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
PDGFA_chr7_492258_524846	510747	A A	AGGAGGGG others(18): Show AGGAGGGGAGGGGAGAGGAGAGGAGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp2 HG03471.hp2 others(1): Show HG03098.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0032 a0001c0001t0045 a0001c0001t0054 others(1): Show a0001c0001t0032 a0001c0001t0045 a0001c0001t0054 a0001c0002t0055	a0001c0001t0032g0154 a0001c0001t0045g0011 a0001c0001t0054g0022 others(1): Show a0001c0001t0032g0154 a0001c0001t0045g0011 a0001c0001t0054g0022 a0001c0002t0055g0018	4	276	0.0145	25	c.453 others(38): Show c.453+37_453+61dupCCTCCTCTCCTCTCCCCTCCCCTCC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDGFA_chr7_492258_524846	519896	T T	TCCCCCGC others(18): Show TCCCCCGCCCCCGCCCCCGCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0234 a0001c0001t0038g0234	1	298	0.0034	25	c.-92 others(34): Show c.-920_-896dupGGGGGGGCGGGGGCGGGGGCGGGGG	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding		51		chr7	TogoVar
PDGFD_chr11_103902189_104169147	104084787	A A	ATATAAAA others(18): Show ATATAAAATATATATTTTATAAGTAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp2 others(89): Show HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp2 HG01123.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01496.hp2 HG01891.hp1 HG01978.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02129.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18950.hp1 NA18953.hp1 NA18957.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18973.hp1 NA18979.hp1 NA18980.hp1 NA18985.hp1 NA18990.hp1 NA18992.hp1 NA19002.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19085.hp2 NA19088.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0006t0002 a0003c0005t0002	a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0038 others(89): Show a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0056 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0193 a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0010 a0001c0001t0003g0074 a0001c0001t0003g0082 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0112 a0001c0001t0003g0120 a0001c0001t0003g0123 a0001c0001t0003g0140 a0001c0001t0003g0148 a0001c0001t0003g0152 a0001c0001t0007g0122 a0001c0001t0009g0124 a0001c0001t0009g0154 a0001c0001t0010g0067 a0001c0001t0015g0165 a0001c0001t0019g0153 a0001c0001t0020g0197 a0001c0001t0021g0199 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0014 a0001c0002t0001g0028 a0001c0002t0001g0042 a0001c0002t0001g0047 a0001c0002t0001g0050 a0001c0002t0001g0066 a0001c0002t0001g0076 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0105 a0001c0002t0001g0114 a0001c0002t0001g0121 a0001c0002t0001g0126 a0001c0002t0001g0136 a0001c0002t0001g0149 a0001c0002t0001g0156 a0001c0002t0001g0161 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0179 a0001c0002t0001g0184 a0001c0002t0004g0026 a0001c0002t0004g0034 a0001c0002t0004g0070 a0001c0002t0004g0072 a0001c0002t0004g0173 a0001c0002t0005g0002 a0001c0002t0005g0025 a0001c0002t0005g0180 a0001c0002t0006g0088 a0001c0002t0008g0103 a0001c0002t0012g0189 a0001c0002t0013g0069 a0001c0002t0013g0071 a0001c0006t0002g0158 a0003c0005t0002g0187	92	183	0.5027	25	c.124 others(44): Show c.124+78992_124+79016dupATACTTATAAAATATATATTTTATA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104119329	T T	TATATAAT others(18): Show TATATAATATATTGATATAATATATA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18985.hp1 NA18957.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0007 a0001c0002t0001g0005 a0001c0001t0003g0007 a0001c0002t0001g0005	2	179	0.0112	25	c.124 others(44): Show c.124+44450_124+44474dupTATATATTATATCAATATATTATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104119457	T T	TATATAAT others(18): Show TATATAATATATTGATATAATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	197	0.0051	25	c.124 others(44): Show c.124+44322_124+44346dupTATATATTATATCAATATATTATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRA_chr4_54224293_54303245	54271979	T T	TCCCCCCT others(18): Show TCCCCCCTCCCCTCCCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0280 a0003c0006t0003g0280	1	103	0.0097	25	c.123 others(42): Show c.1238-410_1238-409insCTCCCCTCCCCCCTCCCCTCCCCCC	PDGFRA	ENSG00000134853.12	transcript	ENST00000257290.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDGFRL_chr8_17572216_17648144	17577082	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02280.hp2 others(2): Show HG02055.hp2 HG02145.hp2 HG02280.hp2 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0333 a0001c0001t0001g0334 others(2): Show a0001c0001t0001g0317 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337	5	15	0.3333	25	c.-17 others(34): Show c.-171_-170insAAAAAAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding		133		chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00673.hp2 others(54): Show HG00438.hp2 HG00609.hp2 HG00673.hp2 HG00741.hp2 HG01069.hp2 HG01192.hp2 HG01257.hp1 HG01358.hp1 HG01496.hp1 HG01928.hp1 HG01952.hp2 HG02056.hp1 HG02071.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG02486.hp2 HG02615.hp1 HG02735.hp1 HG03239.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18956.hp1 NA18956.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18997.hp1 NA18999.hp2 NA19007.hp1 NA19009.hp2 NA19070.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0037 a0001c0001t0001g0056 a0001c0001t0001g0057 others(54): Show a0001c0001t0001g0037 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0374 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0008g0124 a0001c0002t0001g0064 a0001c0002t0001g0111 a0001c0002t0001g0113 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0291 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0375 a0001c0002t0001g0376 a0002c0003t0001g0290 a0002c0003t0001g0312	57	81	0.7037	25	c.353 others(40): Show c.353+491_353+492insAAAAAAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(18): Show TCCCCGCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp2 HG03041.hp1 HG02257.hp2 HG02965.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0185 a0001c0001t0001g0395 a0001c0001t0001g0046 a0001c0001t0001g0185 a0001c0001t0001g0395	3	42	0.0714	25	c.940 others(40): Show c.940-710_940-709insCCCCCCCCCCCCCCCCCCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(18): Show TCCCCGCCCCGCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	40	0.0250	25	c.940 others(40): Show c.940-710_940-709insCCGCCCCCCCCCCCCCCCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDIA2_chr16_278164_292215	286148	C C	CCTCCCTG others(18): Show CCTCCCTGTCAGGCCCTGCAGAGGAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	434	0.0023	25	c.112 others(42): Show c.1120-199_1120-175dupTGTCAGGCCCTGCAGAGGATCTCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA5_chr3_123062025_123167104	123117374	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	11	0.0909	25	c.609 others(42): Show c.609+1076_609+1077insATATATATATATATATATATATATA	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16			chr3	TogoVar
PDILT_chr16_20354175_20409737	20402290	A A	ATCTTTTC others(18): Show ATCTTTTCTTTTCTTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01192.hp1 others(19): Show HG01069.hp2 HG01071.hp2 HG01192.hp1 HG01255.hp2 HG01433.hp2 HG02004.hp1 HG02129.hp1 HG02293.hp2 HG02630.hp1 HG02895.hp1 HG02896.hp1 NA18947.hp1 NA18948.hp1 NA18962.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA19012.hp2 NA19064.hp1 NA19066.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0003 a0002c0004 others(2): Show a0001c0001 a0002c0003 a0002c0004 a0003c0002 a0010c0014	a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 others(2): Show a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 a0003c0002t0001 a0010c0014t0001	a0001c0001t0001g0017 a0001c0001t0001g0099 a0001c0001t0001g0113 others(18): Show a0001c0001t0001g0017 a0001c0001t0001g0099 a0001c0001t0001g0113 a0001c0001t0001g0134 a0001c0001t0001g0223 a0001c0001t0001g0238 a0001c0001t0001g0259 a0001c0001t0001g0283 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0002c0003t0001g0226 a0002c0004t0001g0308 a0003c0002t0001g0074 a0003c0002t0001g0075 a0003c0002t0001g0222 a0003c0002t0001g0302 a0010c0014t0001g0119 a0010c0014t0001g0225	22	48	0.4583	25	c.-8+ others(40): Show c.-8+2181_-8+2205dupAAAGAAAAGAAAAGAAAAGAAAAGA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	1/11			chr16	TogoVar
PDK1_chr2_172551090_172613669	172590777	A A	ATTTTACA others(18): Show ATTTTACAGAGTGCTGATTGGTGCAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(122): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01167.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18977.hp1 NA18979.hp2 NA18988.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0006 a0004c0007	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(54): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0002t0013 a0001c0002t0014 a0001c0002t0022 a0001c0002t0025 a0001c0002t0082 a0001c0002t0083 a0001c0002t0084 a0001c0002t0085 a0001c0002t0086 a0001c0002t0087 a0001c0002t0088 a0001c0002t0089 a0001c0002t0093 a0001c0004t0040 a0001c0004t0041 a0002c0003t0010 a0003c0006t0008 a0004c0007t0098	a0001c0001t0002g0007 a0001c0001t0002g0022 a0001c0001t0002g0023 others(112): Show a0001c0001t0002g0007 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0299 a0001c0001t0002g0304 a0001c0001t0008g0001 a0001c0001t0008g0297 a0001c0001t0008g0298 a0001c0001t0008g0301 a0001c0001t0008g0303 a0001c0001t0010g0071 a0001c0001t0010g0072 a0001c0001t0010g0073 a0001c0001t0017g0206 a0001c0001t0017g0264 a0001c0001t0017g0265 a0001c0001t0017g0267 a0001c0001t0018g0205 a0001c0001t0018g0207 a0001c0001t0018g0208 a0001c0001t0023g0009 a0001c0001t0023g0059 a0001c0001t0024g0008 a0001c0001t0024g0029 a0001c0001t0024g0030 a0001c0001t0026g0025 a0001c0001t0026g0285 a0001c0001t0026g0289 a0001c0001t0037g0271 a0001c0001t0037g0272 a0001c0001t0038g0263 a0001c0001t0038g0268 a0001c0001t0039g0065 a0001c0001t0039g0066 a0001c0001t0042g0027 a0001c0001t0042g0032 a0001c0001t0043g0033 a0001c0001t0043g0034 a0001c0001t0044g0296 a0001c0001t0044g0302 a0001c0001t0047g0074 a0001c0001t0048g0193 a0001c0001t0049g0202 a0001c0001t0078g0269 a0001c0001t0079g0266 a0001c0001t0080g0067 a0001c0001t0081g0070 a0001c0001t0090g0008 a0001c0001t0091g0060 a0001c0001t0092g0028 a0001c0001t0094g0035 a0001c0001t0095g0057 a0001c0001t0096g0090 a0001c0001t0097g0274 a0001c0001t0099g0204 a0001c0001t0100g0286 a0001c0001t0101g0278 a0001c0001t0102g0300 a0001c0001t0103g0281 a0001c0001t0104g0283 a0001c0001t0105g0024 a0001c0001t0106g0001 a0001c0001t0107g0294 a0001c0001t0108g0026 a0001c0001t0109g0026 a0001c0002t0013g0036 a0001c0002t0013g0037 a0001c0002t0013g0038 a0001c0002t0013g0039 a0001c0002t0013g0040 a0001c0002t0013g0050 a0001c0002t0014g0043 a0001c0002t0014g0048 a0001c0002t0014g0051 a0001c0002t0014g0054 a0001c0002t0014g0055 a0001c0002t0014g0064 a0001c0002t0022g0041 a0001c0002t0022g0052 a0001c0002t0022g0063 a0001c0002t0025g0042 a0001c0002t0025g0049 a0001c0002t0025g0056 a0001c0002t0082g0044 a0001c0002t0083g0058 a0001c0002t0084g0045 a0001c0002t0085g0047 a0001c0002t0086g0053 a0001c0002t0087g0046 a0001c0002t0088g0062 a0001c0002t0089g0061 a0001c0002t0093g0031 a0001c0004t0040g0144 a0001c0004t0040g0145 a0001c0004t0041g0014 a0002c0003t0010g0010 a0002c0003t0010g0075 a0002c0003t0010g0270 a0003c0006t0008g0295 a0004c0007t0098g0177	125	340	0.3676	25	c.105 others(44): Show c.1057-2136_1057-2135insCATTTTTACAGAGTGCTGATTGGTG	PDK1	ENSG00000152256.14	transcript	ENST00000282077.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
PDLIM1_chr10_95232572_95296003	95256986	A A	AAAAAGAA others(18): Show AAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	87	0.0115	25	c.533 others(42): Show c.533+6877_533+6878insCTTTCTTTCTTTCTTTCTTTCTTTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM7_chr5_177478394_177502604	177497008	G G	GGGGGAGG others(18): Show GGGGGAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00642.hp1 others(20): Show HG00099.hp2 HG00408.hp2 HG00642.hp1 HG01123.hp1 HG01192.hp2 HG02080.hp2 HG02735.hp2 HG02976.hp1 HG03209.hp2 HG03225.hp1 HG03490.hp1 HG03491.hp1 HG03688.hp1 NA18942.hp1 NA18949.hp2 NA18964.hp2 NA18979.hp2 NA18998.hp2 NA19004.hp1 NA19057.hp1 NA19068.hp1 NA19070.hp1 NA19090.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0018 a0001c0001 a0001c0002 a0007c0018	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0007c0018t0001	a0001c0001t0001g0262 a0001c0001t0001g0271 a0001c0002t0001g0002 others(15): Show a0001c0001t0001g0262 a0001c0001t0001g0271 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0020 a0001c0002t0001g0040 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0130 a0001c0002t0001g0146 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0002g0038 a0007c0018t0001g0261	23	227	0.1013	25	c.-11 others(40): Show c.-11-486_-11-485insTCCCCTCCCCTCCCCTCCCCTCCCC	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	1/12			chr5	TogoVar
PDPK1_chr16_2533021_2608188	2533430	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02071.hp2 NA18960.hp1 others(1): Show HG01934.hp2 HG02071.hp2 NA18960.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0095 a0001c0001t0001g0107 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0166	4	8	0.5000	25	c.-46 others(36): Show c.-4683_-4682insTTTTTTTTTTTTTTTTTTTTTTTTT	PDPK1	ENSG00000140992.19	transcript	ENST00000342085.9	protein_coding		4590		chr16	TogoVar
PDPN_chr1_13578832_13622957	13588980	A A	AGCTACTA others(18): Show AGCTACTATTCAATAAATTGAATAGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(146): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp2 NA18949.hp2 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18994.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19060.hp2 NA19063.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0043 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0002t0026 a0001c0002t0034 a0001c0002t0054 a0002c0003t0055	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(137): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0301 a0001c0001t0001g0408 a0001c0001t0002g0031 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0082 a0001c0001t0002g0094 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0139 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0388 a0001c0001t0003g0048 a0001c0001t0003g0193 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0004g0045 a0001c0001t0004g0047 a0001c0001t0004g0050 a0001c0001t0004g0060 a0001c0001t0004g0067 a0001c0001t0004g0074 a0001c0001t0004g0076 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0092 a0001c0001t0004g0096 a0001c0001t0004g0128 a0001c0001t0004g0135 a0001c0001t0004g0144 a0001c0001t0004g0164 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0180 a0001c0001t0005g0008 a0001c0001t0005g0046 a0001c0001t0005g0119 a0001c0001t0005g0212 a0001c0001t0007g0053 a0001c0001t0007g0063 a0001c0001t0007g0077 a0001c0001t0007g0113 a0001c0001t0007g0124 a0001c0001t0007g0137 a0001c0001t0007g0140 a0001c0001t0007g0389 a0001c0001t0008g0054 a0001c0001t0008g0061 a0001c0001t0008g0062 a0001c0001t0008g0175 a0001c0001t0009g0095 a0001c0001t0009g0133 a0001c0001t0009g0166 a0001c0001t0009g0174 a0001c0001t0009g0178 a0001c0001t0010g0049 a0001c0001t0012g0001 a0001c0001t0012g0182 a0001c0001t0016g0008 a0001c0001t0020g0065 a0001c0001t0020g0134 a0001c0001t0021g0111 a0001c0001t0021g0120 a0001c0001t0021g0123 a0001c0001t0025g0162 a0001c0001t0026g0101 a0001c0001t0027g0070 a0001c0001t0027g0071 a0001c0001t0029g0091 a0001c0001t0029g0108 a0001c0001t0043g0122 a0001c0001t0045g0121 a0001c0001t0047g0081 a0001c0001t0048g0118 a0001c0001t0049g0409 a0001c0001t0050g0078 a0001c0001t0058g0170 a0001c0001t0059g0115 a0001c0001t0060g0103 a0001c0002t0026g0098 a0001c0002t0034g0030 a0001c0002t0054g0302 a0002c0003t0055g0093	149	395	0.3772	25	c.67+ others(40): Show c.67+4897_67+4898insTGAATAGTGCTACTATTCAATAAAT	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDS5A_chr4_39817863_39982911	39826473	T T	TTTTATTT others(18): Show TTTTATTTATTTATTTATTTATTTAA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0205 a0001c0002t0005g0205	1	120	0.0083	25	c.401 others(42): Show c.4011-986_4011-985insTTAAATAAATAAATAAATAAATAAA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	32/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842909	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	21	0.0476	25	c.354 others(42): Show c.3549-854_3549-853insTATATATATATATATATATATATAT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39909040	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00741.hp2 others(16): Show HG00099.hp1 HG00140.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01192.hp1 HG01243.hp1 HG01515.hp1 HG02027.hp1 HG03130.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03942.hp2 NA18944.hp1 NA18973.hp2 NA18988.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0009 a0003c0005 a0001c0002 a0001c0009 a0003c0005	a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 others(2): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0009t0003 a0003c0005t0002	a0001c0002t0002g0214 a0001c0002t0003g0134 a0001c0002t0003g0137 others(16): Show a0001c0002t0002g0214 a0001c0002t0003g0134 a0001c0002t0003g0137 a0001c0002t0003g0139 a0001c0002t0003g0143 a0001c0002t0003g0145 a0001c0002t0003g0148 a0001c0002t0003g0150 a0001c0002t0003g0153 a0001c0002t0003g0161 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0010g0136 a0001c0002t0010g0165 a0001c0009t0003g0142 a0003c0005t0002g0196	19	109	0.1743	25	c.108 others(42): Show c.1088-525_1088-501dupATTTTATTTTATTTTATTTTATTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	10/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655368	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0052 a0001c0001t0013g0052	1	329	0.0030	25	c.313 others(42): Show c.313-2870_313-2869insTTTTTTTTTTTTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655372	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0014	1	324	0.0031	25	c.313 others(42): Show c.313-2866_313-2865insTTTTTTTTTTTTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0111 a0001c0001t0011g0111	1	117	0.0085	25	c.313 others(42): Show c.313-2864_313-2863insATATATATATATATATATATTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655375	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA18942.hp1 NA19057.hp2 HG01516.hp1 NA18942.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0134 a0001c0001t0003g0188 a0001c0001t0003g0122 a0001c0001t0003g0134 a0001c0001t0003g0188	3	214	0.0140	25	c.313 others(42): Show c.313-2864_313-2863insATATATATATATATATATATATATA	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34			chr13	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02132.hp1 HG02165.hp2 others(7): Show HG02071.hp1 HG02132.hp1 HG02165.hp2 NA18952.hp2 NA18960.hp2 NA18973.hp2 NA18975.hp1 NA18984.hp1 NA19004.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0001t0001g0084 others(6): Show a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0135 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0226	10	69	0.1449	25	c.163 others(40): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAAAAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS2_chr6_107147562_107464564	107173572	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	57	0.0175	25	c.104 others(46): Show c.1042-18820_1042-18796dupTTTTTTTTTTTTTTTTTTTTTTTT T	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	7/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107225161	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18975.hp1 NA19084.hp2 NA18906.hp1 NA18975.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0007g0156 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0007g0156	3	204	0.0147	25	c.703 others(44): Show c.703-12880_703-12879insATATATATATATATATATATATATA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107225162	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0230 a0001c0001t0007g0230	1	220	0.0045	25	c.703 others(44): Show c.703-12881_703-12880insTATATATATATATATATATATATAT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0095 a0001c0001t0005g0095	1	107	0.0093	25	c.296 others(44): Show c.296+29088_296+29089insATATATATATATATATTTTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAATACAT others(18): Show AAATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	107	0.0093	25	c.296 others(44): Show c.296+29088_296+29089insATATATATATATATATATATGTATT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	107	0.0093	25	c.296 others(44): Show c.296+29088_296+29089insATATATATATATATATATATATATT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDXDC1_chr16_14970026_15043332	14984495	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0035 a0002c0002t0009g0035	1	169	0.0059	25	c.21+ others(40): Show c.21+9276_21+9277insATATATATATATATATATATATTTT	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0004 a0007c0013t0004	a0007c0013t0004g0198 a0007c0013t0004g0198	1	30	0.0333	25	c.-36 others(46): Show c.-361+49917_-361+49918insATATATATATATATATTTTTTTTT T	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0026 a0026	a0026c0046 a0026c0046	a0026c0046t0014 a0026c0046t0014	a0026c0046t0014g0080 a0026c0046t0014g0080	1	30	0.0333	25	c.-36 others(46): Show c.-361+49917_-361+49918insATATATATATATATTTTTTTTTTT T	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31969509	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0027 a0002c0002t0003g0027	1	22	0.0455	25	c.477 others(44): Show c.477-13644_477-13620dupAAAAAAAAAAAAAAAAAAAAAAAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31988453	A A	ATCACCCT others(18): Show ATCACCCTCCTGGCATGTGGATGTAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03098.hp1 HG03239.hp1 HG02818.hp2 HG03098.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0010 a0001c0001 a0001c0007 a0001c0010	a0001c0001t0001 a0001c0007t0009 a0001c0010t0015 a0001c0001t0001 a0001c0007t0009 a0001c0010t0015	a0001c0001t0001g0122 a0001c0007t0009g0067 a0001c0010t0015g0199 a0001c0001t0001g0122 a0001c0007t0009g0067 a0001c0010t0015g0199	3	197	0.0152	25	c.978 others(42): Show c.978+4828_978+4852dupCTCCTGGCATGTGGATGTATTCACC	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32025591	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01978.hp2 NA18747.hp2 HG00621.hp1 HG01978.hp2 NA18747.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0001c0001t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0169 a0002c0002t0001g0123 a0003c0004t0001g0047 a0001c0001t0001g0169 a0002c0002t0001g0123 a0003c0004t0001g0047	3	28	0.1071	25	c.140 others(46): Show c.1408-11636_1408-11612dupTTTTTTTTTTTTTTTTTTTTTTTT T	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZRN3_chr3_73377431_73629941	73563014	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03239.hp2 NA19010.hp2 HG02818.hp1 HG03239.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0124 a0001c0001t0002g0178 a0001c0001t0002g0053 a0001c0001t0002g0124 a0001c0001t0002g0178	3	189	0.0159	25	c.918 others(44): Show c.918+39339_918+39340insTATATATATATATATATATATATAT	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41214430	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG04115.hp2 NA20752.hp1 HG02622.hp2 HG04115.hp2 NA20752.hp1	a0001 a0004 a0015 a0001 a0004 a0015	a0001c0013 a0004c0003 a0015c0039 a0001c0013 a0004c0003 a0015c0039	a0001c0013t0001 a0004c0003t0001 a0015c0039t0001 a0001c0013t0001 a0004c0003t0001 a0015c0039t0001	a0001c0013t0001g0068 a0004c0003t0001g0081 a0015c0039t0001g0043 a0001c0013t0001g0068 a0004c0003t0001g0081 a0015c0039t0001g0043	3	48	0.0625	25	c.843 others(44): Show c.843+20262_843+20263insAAAAAAAAAAAAAAAAAAAAAAAAA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41266310	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	172	0.0058	25	c.843 others(44): Show c.843+72123_843+72147dupAAAAAAAAAAAAAAAAAAAAAAAAA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77182749	C C	CAATAAAA others(18): Show CAATAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0316 a0001c0001t0010g0316	1	102	0.0098	25	c.-11 others(42): Show c.-114-710_-114-709insTTTTTTTTTTTTTTTTTTTTTTATT	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77226044	G G	GATATATA others(18): Show GATATATATAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0110 a0002c0002t0004g0110	1	173	0.0058	25	c.-11 others(46): Show c.-115+26322_-115+26323insATATATATATATATATTATATATA T	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PEAR1_chr1_156888718_156921429	156911076	T T	TCTTTCTT others(18): Show TCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00558.hp2 others(13): Show HG00280.hp2 HG00544.hp1 HG00558.hp2 HG02129.hp1 HG02145.hp1 HG02647.hp2 HG02976.hp1 HG03516.hp1 HG03834.hp1 NA18612.hp1 NA18949.hp2 NA18951.hp2 NA18983.hp1 NA18993.hp2 NA19005.hp1 NA19057.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0016	a0001c0002 a0001c0018 a0002c0001 others(4): Show a0001c0002 a0001c0018 a0002c0001 a0002c0006 a0003c0020 a0006c0017 a0016c0036	a0001c0002t0003 a0001c0002t0004 a0001c0018t0002 others(5): Show a0001c0002t0003 a0001c0002t0004 a0001c0018t0002 a0002c0001t0001 a0002c0006t0005 a0003c0020t0003 a0006c0017t0002 a0016c0036t0019	a0001c0002t0003g0002 a0001c0002t0003g0067 a0001c0002t0003g0071 others(10): Show a0001c0002t0003g0002 a0001c0002t0003g0067 a0001c0002t0003g0071 a0001c0002t0003g0082 a0001c0002t0004g0026 a0001c0002t0004g0107 a0001c0002t0004g0114 a0001c0018t0002g0116 a0002c0001t0001g0001 a0002c0006t0005g0006 a0003c0020t0003g0077 a0006c0017t0002g0020 a0016c0036t0019g0036	16	199	0.0804	25	c.195 others(42): Show c.1951+350_1951+351insTTTCTTTCCTTTCTTTCTTTCTTTC	PEAR1	ENSG00000187800.14	transcript	ENST00000292357.8	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEBP1_chr12_118131124_118150584	118133194	A A	ATTATTTT others(18): Show ATTATTTTATTTTATTTTATTTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02698.hp1 HG03704.hp1 others(1): Show HG02257.hp2 HG02698.hp1 HG03704.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0018 a0001c0001t0004 a0001c0001t0008 a0001c0001t0018	a0001c0001t0004g0075 a0001c0001t0008g0048 a0001c0001t0018g0123 a0001c0001t0004g0075 a0001c0001t0008g0048 a0001c0001t0018g0123	4	190	0.0211	25	c.-30 others(36): Show c.-3016_-3015insTTATTTTATTTTATTTTATTTTATT	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding		2929		chr12	TogoVar
PECAM1_chr17_64314415_64395860	64342933	T T	TGGGTGTG others(18): Show TGGGTGTGCACACACTCATGCACACA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0132 a0001c0004t0001g0132	1	286	0.0035	25	c.210 others(44): Show c.2108-1268_2108-1244dupTGTGTGCATGAGTGTGTGCACACCC	PECAM1	ENSG00000261371.6	transcript	ENST00000563924.6	protein_coding	13/15			chr17	TogoVar
PELP1_chr17_4664774_4709137	4668953	C C	CATATATA others(18): Show CATATATATAACACATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0209 a0005c0008t0004g0209	1	280	0.0036	25	c.24 others(36): Show c.2485_*2486insATATATATATATGTGTTATATATAT	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding		820		chr17	TogoVar
PENK_chr8_56435957_56451641	56447971	G G	GAGAACCA others(18): Show GAGAACCAACTGTTCATGGGATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	434	0.0023	25	c.-14 others(36): Show c.-1463_-1462insAAAAATCCCATGAACAGTTGGTTCT	PENK	ENSG00000181195.11	transcript	ENST00000451791.7	protein_coding		1331		chr8	TogoVar
PEPD_chr19_33381950_33526791	33431992	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02559.hp2 HG00558.hp1 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0222 a0001c0003t0001g0251 a0001c0003t0001g0222 a0001c0003t0001g0251	2	112	0.0179	25	c.672 others(44): Show c.672-18350_672-18349insTTTTTTTTTTTTTTTTTTTTTTTTT	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PER3_chr1_7779291_7850177	7806812	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18978.hp2 NA18993.hp2 NA18954.hp2 NA18978.hp2 NA18993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0119 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0119 a0001c0003t0001g0143 a0001c0003t0001g0144	3	44	0.0682	25	c.113 others(44): Show c.1137-2080_1137-2079insAAAAAAAAAAAAATATATATATATA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar

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