Joint Open Genome and Omics Platform (JoGo)

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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
PDE8B_chr5_77205680_77433256	77395390	T T	TAGGCGTG others(307): Show TAGGCGTGAGCCACCGTGCCCGGCCAATTCAATTTATTTTTTATTTATTT ATTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCCAGAGTGCAGTGG TGCTATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTATTCTC CTGCCTAAGCCTCTCCAGTAGCTGGGACTACAGGCGCCCGCCACTGCTCC CGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCC AGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTTTCA AAGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp2 HG01168.hp1 others(16): Show HG00741.hp2 HG01109.hp2 HG01168.hp1 HG01192.hp2 HG02109.hp1 HG02486.hp1 HG02647.hp2 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03669.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0026 a0001c0001t0027 a0001c0001t0038 a0001c0003t0007 a0002c0004t0014	a0001c0001t0001g0216 a0001c0001t0002g0007 a0001c0001t0002g0303 others(16): Show a0001c0001t0001g0216 a0001c0001t0002g0007 a0001c0001t0002g0303 a0001c0001t0007g0033 a0001c0001t0007g0144 a0001c0001t0007g0163 a0001c0001t0007g0199 a0001c0001t0007g0293 a0001c0001t0007g0311 a0001c0001t0011g0304 a0001c0001t0013g0217 a0001c0001t0013g0218 a0001c0001t0013g0219 a0001c0001t0026g0036 a0001c0001t0027g0164 a0001c0001t0027g0310 a0001c0001t0038g0312 a0001c0003t0007g0135 a0002c0004t0014g0184	19	314	0.0605	314	c.116 others(333): Show c.1168-4843_1168-4842insTGCCCGGCCAATTCAATTTATTTTTT ATTTATTTATTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCCAGAG TGCAGTGGTGCTATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CTATTCTCCTGCCTAAGCCTCTCCAGTAGCTGGGACTACAGGCGCCCGCC ACTGCTCCCGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCG TGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTTTCAAAGTGCTGGGATTACAGGCGTGAGCCACCG	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE8B_chr5_77205680_77433256	77395390	T T	TAGGCGTG others(307): Show TAGGCGTGAGCCACCGTGCCCGGCCAATTCAATTTATTTTTTATTTATTT ATTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCCAGAGTGCAGTGG TGCTATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTATTCTC CTGCCTAAGCCTCTCCAGTAGCTGGGACTACAGGCGCCCGCCACTGCTCC CGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTTTCA AAGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	314	0.0032	314	c.116 others(333): Show c.1168-4843_1168-4842insTGCCCGGCCAATTCAATTTATTTTTT ATTTATTTATTTTTTTGAGACGGAGTCTCCCTCTGTCGCCCAGGCCAGAG TGCAGTGGTGCTATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CTATTCTCCTGCCTAAGCCTCTCCAGTAGCTGGGACTACAGGCGCCCGCC ACTGCTCCCGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTTTCAAAGTGCTGGGATTACAGGCGTGAGCCACCG	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDGFD_chr11_103902189_104169147	104041415	C C	CAAAAATC others(307): Show CAAAAATCCTCCTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGCAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02615.hp2 others(2): Show HG02257.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0005 others(1): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0005 a0001c0002t0014	a0001c0001t0003g0195 a0001c0002t0001g0001 a0001c0002t0005g0025 others(2): Show a0001c0001t0003g0195 a0001c0002t0001g0001 a0001c0002t0005g0025 a0001c0002t0005g0094 a0001c0002t0014g0198	5	200	0.0250	314	c.125 others(333): Show c.125-41161_125-41160insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCTGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT GCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAAGAGGAGGATTTTT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(307): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTA CAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCTGAATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02080.hp1 HG02148.hp1 others(8): Show HG01358.hp1 HG02080.hp1 HG02148.hp1 HG02300.hp2 HG02717.hp2 HG02735.hp2 HG03669.hp2 HG03710.hp2 NA18993.hp2 NA19060.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0017 others(1): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0017 a0002c0002t0033	a0002c0002t0002g0143 a0002c0002t0002g0145 a0002c0002t0002g0166 others(8): Show a0002c0002t0002g0143 a0002c0002t0002g0145 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0169 a0002c0002t0002g0191 a0002c0002t0002g0198 a0002c0002t0003g0165 a0002c0002t0003g0170 a0002c0002t0017g0184 a0002c0002t0033g0193	11	228	0.0483	314	c.-38 others(333): Show c.-38-11568_-38-11567insTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTAC AGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCTGAATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(307): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTA CAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCTGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0046 a0002c0002t0046	a0002c0002t0046g0125 a0002c0002t0046g0125	1	228	0.0044	314	c.-38 others(333): Show c.-38-11568_-38-11567insTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTAC AGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCTGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(307): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACT ACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCTGAATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02683.hp2 HG03704.hp1 others(6): Show HG01243.hp1 HG02683.hp2 HG03704.hp1 HG03831.hp2 HG04204.hp2 NA18947.hp2 NA19064.hp2 NA19067.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0012 others(2): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0012 a0002c0002t0015 a0002c0002t0027	a0002c0002t0002g0187 a0002c0002t0002g0195 a0002c0002t0002g0196 others(6): Show a0002c0002t0002g0187 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0199 a0002c0002t0002g0213 a0002c0002t0003g0203 a0002c0002t0012g0204 a0002c0002t0015g0159 a0002c0002t0027g0202	9	228	0.0395	314	c.-38 others(333): Show c.-38-11568_-38-11567insTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTA CAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCTGAATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PIGK_chr1_77083989_77224430	77168629	T T	TAAAATTG others(307): Show TAAAATTGCTTCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAATGCTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03486.hp1 HG02723.hp2 HG03486.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0352 a0002c0005t0005g0353 a0002c0005t0005g0352 a0002c0005t0005g0353	2	366	0.0055	314	c.375 others(329): Show c.375+630_375+631insTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCAGCATTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTTGAAGCAATTTT	PIGK	ENSG00000142892.15	transcript	ENST00000370812.8	protein_coding	4/10			chr1	TogoVar
PIGN_chr18_62036164_62192056	62046486	A A	AGGTTGTG others(307): Show AGGTTGTGCACTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATATCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTCAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG00738.hp2 others(15): Show HG00323.hp1 HG00609.hp1 HG00738.hp2 HG02056.hp1 HG02071.hp2 HG02486.hp1 HG03688.hp2 HG03834.hp2 HG04199.hp2 NA18747.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18986.hp1 NA18989.hp1 NA19058.hp2 NA19067.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0019 a0001c0001 a0001c0003 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0017 a0001c0001t0023 a0001c0001t0030 a0001c0001t0040 a0001c0001t0056 a0001c0001t0071 a0001c0003t0001 a0001c0019t0001	a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0002g0178 others(15): Show a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0002g0178 a0001c0001t0003g0190 a0001c0001t0003g0193 a0001c0001t0003g0238 a0001c0001t0005g0187 a0001c0001t0005g0194 a0001c0001t0005g0214 a0001c0001t0013g0189 a0001c0001t0017g0210 a0001c0001t0023g0188 a0001c0001t0030g0183 a0001c0001t0040g0250 a0001c0001t0056g0186 a0001c0001t0071g0015 a0001c0003t0001g0110 a0001c0019t0001g0191	18	342	0.0526	314	c.267 others(331): Show c.2673-508_2673-507insGGCCGGGCGCGGTGGCTGACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGATATC GAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAGAAGTGCACAACC	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(307): Show GGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGG AGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGG GGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAG GGGATGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	312	0.0032	314	c.53 others(325): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGG GGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGG GAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGA GGGAAGGGGGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(307): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGG GGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAG GGGATGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG02145.hp2 HG01256.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	2	312	0.0064	314	c.53 others(325): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGAGGAGATGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGG GAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGA GGGAAGGGGGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455737	G G	GGGGGAAT others(307): Show GGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAGG GGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGG GAAGAGGGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	312	0.0032	314	c.53 others(325): Show c.5390_*5391insGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGA AGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGG GGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAA GAGGGGATGGGAGGGGAAGAGGGGAGGGGA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4269		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(307): Show GGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGG AGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGG GGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAG GGGATGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0124 a0001c0001t0010g0124	1	218	0.0046	314	c.262 others(329): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTC CCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCCTCTTCCCTCTTC CCTCCTCTCCCCTCCCCTATTCCCCCTCCCCTCCCTTCCCCTCTTCCCCC TCCCATCTCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCCCCTCTTCC CCCTCCCCTCCCCTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(307): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGG GGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAG GGGATGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02145.hp2 HG01256.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0074 a0001c0001t0020 a0001c0001t0074	a0001c0001t0020g0186 a0001c0001t0074g0159 a0001c0001t0020g0186 a0001c0001t0074g0159	2	218	0.0092	314	c.262 others(329): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTC CCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCCTCTTCCCTCTTC CCTCCTCTCCCCTCCCCTATTCCCCCTCCCCTCCCTTCCCCTCTTCCCCC TCCCATCTCCTCCCCTCCCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCT CCCCTCTTCCCCCTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PJA2_chr5_109329722_109414974	109357304	C C	CAAAAATA others(307): Show CAAAAATAGTTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02257.hp2 HG03017.hp2 HG02071.hp2 HG02257.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0013 a0001c0001t0006g0287 a0001c0001t0006g0011 a0001c0001t0006g0013 a0001c0001t0006g0287	3	346	0.0087	314	c.165 others(333): Show c.1653-1279_1653-1278insTTTTTTTTTTTTTTTTTTTTGAGACA GAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCAAAACTATTTTT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	6/9			chr5	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(307): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGGAA GGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAA GGAAGGAAGAAAGGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0004 a0002c0021t0004	a0002c0021t0004g0128 a0002c0021t0004g0128	1	134	0.0075	314	c.575 others(335): Show c.5751+20407_5751+20408insTCCTTTCTTCCTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTTCC TTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTT CCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCC TTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCC TCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989903	G G	GGAAGGAA others(307): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGA AGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGA AGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGGAAGG AAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGG AAGAAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0092 a0002c0092	a0002c0092t0004 a0002c0092t0004	a0002c0092t0004g0002 a0002c0092t0004g0002	1	134	0.0075	314	c.575 others(335): Show c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTT CCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCT TTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTT CCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCT CCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKP2_chr12_32785755_32901777	32901725	T T	TAAAATGC others(307): Show TAAAATGCTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	342	0.0029	314	c.-49 others(325): Show c.-4995_-4994insTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGT GGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTC CGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGGAAGCATTTT	PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding		4949		chr12	TogoVar
PKP3_chr11_389209_409908	401971	G G	GACCCGCT others(307): Show GACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCC CGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTC ACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCC GGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCG ACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCC GCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTC ACACCCGACCCGCTC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	216	0.0046	314	c.173 others(333): Show c.1738-1103_1738-1102insGCTCACCCCCGACCCGCTCACCCCGG GCCCCGCTCACACCCGCCCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCA CCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCCGCTCACAC CCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGA CCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCC GCTCACACCCGACCCGCTCACACCCGACCCGCTCACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCL1_chr2_197799593_198154863	197898721	G G	GTCTTTCC others(307): Show GTCTTTCCTAGTTTCTTTCTTTTTTCTTTTTCTTTTTTCTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCTCGGCTCATTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGC CCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTTTA GCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTGGGAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0005 a0002c0007t0005	a0002c0007t0005g0003 a0002c0007t0005g0003	1	204	0.0049	314	c.240 others(333): Show c.240+93383_240+93384insCTTTCCTAGTTTCTTTCTTTTTTCTT TTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCL1_chr2_197799593_198154863	197898724	T T	TTTCCTAG others(307): Show TTTCCTAGTTTCTTTCTTTTTTCTTTTTCTTTTTTCTTTTCTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG CGATCTCGGCTCATTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	204	0.0049	314	c.240 others(333): Show c.240+93399_240+93400insCTTTTTTCTTTTTCTTTTTTCTTTTC TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGCGATCTCGGCTCATTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTT TTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCTGGGATTACTTCCTAGTTTCTTT	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCL1_chr2_197799593_198154863	197898724	T T	TTTCCTAG others(307): Show TTTCCTAGTTTCTTTCTTTTTTCTTTTTCTTTTTTCTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG CGATCTCGGCTCATTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00558.hp2 others(70): Show HG00408.hp1 HG00423.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01070.hp1 HG01081.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01258.hp2 HG01346.hp2 HG01515.hp1 HG01891.hp1 HG01978.hp2 HG02027.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03491.hp1 HG03516.hp2 HG03710.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18956.hp1 NA18957.hp1 NA18963.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp2 NA18995.hp1 NA19002.hp2 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19066.hp2 NA19077.hp1 NA19085.hp1 NA19089.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0002c0002 others(2): Show a0001c0004 a0001c0005 a0002c0002 a0002c0008 a0002c0009	a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 others(20): Show a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 a0001c0004t0013 a0001c0004t0025 a0001c0004t0030 a0001c0004t0043 a0001c0005t0001 a0001c0005t0010 a0001c0005t0013 a0001c0005t0025 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0002t0013 a0002c0002t0031 a0002c0002t0032 a0002c0002t0033 a0002c0008t0001 a0002c0009t0008	a0001c0004t0001g0126 a0001c0004t0001g0134 a0001c0004t0003g0081 others(70): Show a0001c0004t0001g0126 a0001c0004t0001g0134 a0001c0004t0003g0081 a0001c0004t0003g0128 a0001c0004t0005g0059 a0001c0004t0013g0080 a0001c0004t0013g0095 a0001c0004t0025g0122 a0001c0004t0030g0061 a0001c0004t0043g0120 a0001c0005t0001g0064 a0001c0005t0001g0065 a0001c0005t0001g0066 a0001c0005t0001g0067 a0001c0005t0001g0133 a0001c0005t0010g0117 a0001c0005t0010g0118 a0001c0005t0010g0135 a0001c0005t0013g0068 a0001c0005t0025g0121 a0002c0002t0001g0069 a0002c0002t0001g0072 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0139 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0087 a0002c0002t0003g0089 a0002c0002t0003g0090 a0002c0002t0003g0099 a0002c0002t0003g0103 a0002c0002t0003g0104 a0002c0002t0003g0105 a0002c0002t0003g0106 a0002c0002t0003g0107 a0002c0002t0003g0123 a0002c0002t0005g0073 a0002c0002t0005g0074 a0002c0002t0005g0083 a0002c0002t0005g0094 a0002c0002t0005g0127 a0002c0002t0005g0129 a0002c0002t0005g0132 a0002c0002t0005g0136 a0002c0002t0008g0058 a0002c0002t0008g0076 a0002c0002t0008g0091 a0002c0002t0008g0111 a0002c0002t0008g0125 a0002c0002t0009g0116 a0002c0002t0009g0130 a0002c0002t0009g0131 a0002c0002t0011g0071 a0002c0002t0011g0088 a0002c0002t0011g0093 a0002c0002t0011g0100 a0002c0002t0011g0112 a0002c0002t0013g0108 a0002c0002t0031g0101 a0002c0002t0032g0124 a0002c0002t0033g0060 a0002c0008t0001g0075 a0002c0009t0008g0085	73	204	0.3578	314	c.240 others(333): Show c.240+93399_240+93400insCTTTTTTCTTTTTCTTTTTTCTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGCGATCTCGGCTCATTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTT TTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCTGGGATTACTTCCTAGTTTCTTT	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCL1_chr2_197799593_198154863	197898724	T T	TTTCCTAG others(307): Show TTTCCTAGTTTCTTTCTTTTTTCTTTTTCTTTTTTCTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG CGATCTCGGCTCATTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCA AAGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG01891.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0016 a0001c0006t0009 a0001c0006t0016	a0001c0006t0009g0050 a0001c0006t0016g0053 a0001c0006t0009g0050 a0001c0006t0016g0053	2	204	0.0098	314	c.240 others(333): Show c.240+93399_240+93400insCTTTTTTCTTTTTCTTTTTTCTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGCGATCTCGGCTCATTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTT TTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTC GGCCTCCCAAAGTGCTGGGATTACTTCCTAGTTTCTTT	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLEKHN1_chr1_961482_980865	976938	G G	GCAACCCC others(307): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACC GCCTGCCCCCCGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0004 a0004	a0004c0028 a0004c0028	a0004c0028t0001 a0004c0028t0001	a0004c0028t0001g0129 a0004c0028t0001g0129	1	422	0.0024	314	c.23 others(325): Show c.2363_*2364insCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACTCCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCA CCAACCCCGGGAACCGCCTGCCCCCCGCCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1074		chr1	TogoVar
PLXDC2_chr10_19811432_20294856	19916316	T T	TTGTATTT others(307): Show TTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCACCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG01069.hp1 others(4): Show HG00323.hp1 HG00639.hp1 HG01069.hp1 HG01123.hp1 HG03704.hp1 NA18747.hp1 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0069 a0001c0001t0098 a0001c0001t0099 others(4): Show a0001c0001t0069 a0001c0001t0098 a0001c0001t0099 a0002c0002t0007 a0002c0002t0020 a0002c0002t0035 a0002c0002t0091	a0001c0001t0069g0169 a0001c0001t0098g0122 a0001c0001t0099g0118 others(4): Show a0001c0001t0069g0169 a0001c0001t0098g0122 a0001c0001t0099g0118 a0002c0002t0007g0050 a0002c0002t0020g0121 a0002c0002t0035g0116 a0002c0002t0091g0149	7	180	0.0389	314	c.113 others(333): Show c.113-85447_113-85446insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCACCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTGTATTTTTTTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(307): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATAATATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATAATATAT TATATATAATATATTATATATATTATATATAATATATTATATATATTATA TTATATATATTATATATAATATATTATATATATTATATTATATATAATAT ATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	286	0.0035	314	c.-50 others(325): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATATATAATATAATATATATAATATAT TATATATAATATATATAATATATTATATATAATATATTATATATAATATA TTATATATAATATAATATATATAATATATTATATATAATATATTATATAT AATATATTATATATAATATAATATATATAAATATATTTTTATATATAATA ATTATATTATATATAATATATTTTTATATAAATATATATTATATATTTTT ATATAAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137502729	G G	GCGGGGGG others(307): Show GCGGGGGGCGGGGGGGGACGGGGGGGATGGGGGGGACGGGGGGGACGGGG GGGACGCGGGGGGGACGCGGGGGACGGGGGGGCGGGGGGGGCGGGGGGGG ACGCGGGGGGCGGGGGGGACGGGGGGGACGCGGGGGGCGGGGGGGACGGG GGGGACGGGGGGGACGTGGGGGACGGGGGGGACGTGGGGGACGGGGGGGA CGGGGGGGACGGGGGGGACGGGGGGGGACGCGGGGGACGCGGGGGGGACG GGGGGGACGGGGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGACGGGGG GGGACGGGGGGGACA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0181 a0005c0007t0002g0181	1	188	0.0053	314	c.147 others(333): Show c.1474-1003_1474-1002insTGTCCCCCCCGTCCCCCCCCGTCCCC CCCGCCCCCCCCGCCCCCCCCGCCCCCCCCCGTCCCCCCCGTCCCCCCCG CGTCCCCCGCGTCCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTC CCCCACGTCCCCCCCGTCCCCCACGTCCCCCCCGTCCCCCCCGTCCCCCC CGCCCCCCGCGTCCCCCCCGTCCCCCCCGCCCCCCGCGTCCCCCCCCGCC CCCCCCGCCCCCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCC CCGTCCCCCCCATCCCCCCCGTCCCCCCCCGCCCCCCG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PPP2CB_chr8_30780616_30817818	30786497	A A	ATGGTGAA others(307): Show ATGGTGAAAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTTGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02818.hp1 NA18948.hp1 HG02809.hp1 HG02818.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0100 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0100	3	304	0.0099	314	c.858 others(329): Show c.858-191_858-190insGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CAAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAATTTTCACCA	PPP2CB	ENSG00000104695.13	transcript	ENST00000221138.9	protein_coding	6/6			chr8	TogoVar
PRICKLE4_chr6_41775782_41792452	41787917	T T	TTGTTTTT others(307): Show TTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	454	0.0022	314	c.78 others(323): Show c.788_*789insTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCC	PRICKLE4	ENSG00000278224.7	transcript	ENST00000458694.6	protein_coding		466		chr6	TogoVar
PRRX2_chr9_129660647_129727674	129689821	T T	TGGCTCAC others(307): Show TGGCTCACTGCAACCTCTGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCA GTCTCCAGAGTAGCTGGAATTACAGGCATGCGCCACCACACCCAGCTAAT TTTTGTATTTGTAGTAGGGACGGGGTTTCGCCATGTTAGTCAGGCTGGTC TCAAACTGCTGACCTCAGGTGATTCGCCCGTCTCAGCCTCCCAACGTGTT GGGATTACAGGCATGAGCCACTGTGCCCAGCCAATGGCATCTTTTTTTTT TTTTTTTCTTTTTCTGAGATGAAGTCTCACTCTGTTGCCAGGCTGGAGTG CAGTGGCGTGATCTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp2 HG02451.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0026 a0001c0001t0015g0027 a0001c0001t0002g0026 a0001c0001t0015g0027	2	358	0.0056	314	c.259 others(333): Show c.259+23719_259+23720insGGGTTCAAGTGATTCTCCTGCCTCAG TCTCCAGAGTAGCTGGAATTACAGGCATGCGCCACCACACCCAGCTAATT TTTGTATTTGTAGTAGGGACGGGGTTTCGCCATGTTAGTCAGGCTGGTCT CAAACTGCTGACCTCAGGTGATTCGCCCGTCTCAGCCTCCCAACGTGTTG GGATTACAGGCATGAGCCACTGTGCCCAGCCAATGGCATCTTTTTTTTTT TTTTTTCTTTTTCTGAGATGAAGTCTCACTCTGTTGCCAGGCTGGAGTGC AGTGGCGTGATCTCGGCTCACTGCAACCTCTGTCTCCC	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PTPRD_chr9_8309246_10618002	10461248	T T	TAAGAATG others(307): Show TAAGAATGGGGGAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0012 a0001c0001t0022g0012	1	34	0.0294	314	c.-59 others(337): Show c.-599-120232_-599-120231insTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTTTTCCCCCATTCTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
RAB2A_chr8_60511987_60628644	60614220	T T	TCCAGCCC others(307): Show TCCAGCCCTGCATTCTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	358	0.0028	314	c.475 others(331): Show c.475-4342_475-4341insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCAGCCCTGCATTCTTCT	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB30_chr11_82968133_83076897	83041457	T T	TAGAAAGG others(307): Show TAGAAAGGGCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp2 HG03139.hp1 others(1): Show HG02145.hp1 HG02630.hp2 HG03139.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0061 a0001c0001t0016 a0001c0001t0061	a0001c0001t0016g0004 a0001c0001t0016g0199 a0001c0001t0061g0200 a0001c0001t0016g0004 a0001c0001t0016g0199 a0001c0001t0061g0200	4	328	0.0122	314	c.-9+ others(331): Show c.-9+30233_-9+30234insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTAGCCCTTTCT	RAB30	ENSG00000137502.10	transcript	ENST00000527633.6	protein_coding	1/4			chr11	TogoVar
RAD21L1_chr20_1221044_1260876	1258877	T T	TGTTTCCT others(307): Show TGTTTCCTTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATACAA ACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGGGATCTTCCCTC TTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGGTTT GAGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCT AGGTAACTGATTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGC TCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTAATAC AAACACATAAAGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01261.hp2 HG01433.hp1 others(5): Show HG01109.hp2 HG01261.hp2 HG01433.hp1 HG02055.hp1 HG02559.hp2 HG03209.hp1 HG03540.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0061 a0002c0002t0002g0074 others(1): Show a0002c0002t0002g0004 a0002c0002t0002g0061 a0002c0002t0002g0074 a0002c0002t0002g0078	8	364	0.0220	314	c.44 others(325): Show c.4420_*4421insGTTTCCTTCTAGGTAACTGGTTTGAGATCTTCCC TCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGAT TTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTT CTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAA GCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTAAT ATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTC CCTCTTTTCTAATACAAACACATAAAGCTC	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		3002		chr20	TogoVar
REPS2_chrX_16941658_17158272	17050147	T T	TTCCTTCC others(307): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	166	0.0060	314	c.908 others(331): Show c.908-2234_908-2233insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RFTN1_chr3_16310845_16518699	16403868	T T	TATATAAT others(307): Show TATATAATATATAATACATATTTTATATATATTTTATATATAATATATAA TACATATTTTATATATATTTTATATATAATATATATTTTATATATATTTT ATATATAATATATATTTTATATATATTTTATATATAATATATATTTTATA TATATTTTATATATAATATATATTTTATATATATTATATATAATATATTA TATTTTATATATATTTTATATATAAAATATAATATATATTTTATATATAT TTTATATATAATATATAATATATATTTTATATATATTTTATATATAATAT ATAATATATATTTTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG01358.hp2 HG00642.hp1 HG01099.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0020 a0001c0001t0001g0147 a0001c0001t0001g0150	3	268	0.0112	314	c.441 others(331): Show c.441+5506_441+5507insTAAAATATATATTATATATTATATATAA AATATATATAAAATATATATTATATATTATATATAAAATATATATAAAAT ATATATTATATTTTATATATAAAATATATATAAAATATAATATATTATAT ATAATATATATAAAATATATATTATATATAAAATATATATAAAATATATA TTATATATAAAATATATATAAAATATATATTATATATAAAATATATATAA AATATATATTATATATAAAATATATATAAAATATGTATTATATATTATAT ATAAAATATATATAAAATATGTATTATATATTATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RGS12_chr4_3288021_3444913	3375550	G G	GCCTCATC others(307): Show GCCTCATCTCCAGCCCTCATCTCCAGCCTCATCTCCAGCCTCATCTCCAT CCCTCATCTCCAGCCCTCATCTCCAGCCTCATCTCCAGCCCTCATCTCCA GCCTCATCTCCATCCCTCATCTCCAGCCCTCATCTCCAGCCTCATCTCCA GCCCTCATCTCCAGCCTCATCTCCAGCCTCATCTCCAGCCCTCATCTCCA GCCTCATCTCCAGCCTCATCTCCATCCCTCATCTCCAGCCCTCATCTCCA GCCTCATCTCCAGCCCTCATCTCCAGCCTCATCTCCAGCCCTCATCTCCA GCCCTCATCTCCAGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03453.hp1 HG02965.hp2 HG03453.hp1	a0008 a0008	a0008c0030 a0008c0030	a0008c0030t0005 a0008c0030t0005	a0008c0030t0005g0141 a0008c0030t0005g0142 a0008c0030t0005g0141 a0008c0030t0005g0142	2	312	0.0064	314	c.199 others(335): Show c.1999-10827_1999-10826insTCATCTCCATCCCTCATCTCCAGC CCTCATCTCCAGCCTCATCTCCAGCCCTCATCTCCAGCCTCATCTCCATC CCTCATCTCCAGCCCTCATCTCCAGCCTCATCTCCAGCCCTCATCTCCAG CCTCATCTCCAGCCTCATCTCCAGCCCTCATCTCCAGCCTCATCTCCAGC CTCATCTCCATCCCTCATCTCCAGCCCTCATCTCCAGCCTCATCTCCAGC CCTCATCTCCAGCCTCATCTCCAGCCCTCATCTCCAGCCCTCATCTCCAG CCCTCATCTCCAGCCCTCATCTCCAGCCTCATCTCCAGCC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RHEX_chr1_206048173_206107449	206054462	T T	TAAAAGGT others(307): Show TAAAAGGTTAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0278 a0001c0001t0013g0278	1	334	0.0030	314	c.-97 others(331): Show c.-97+1208_-97+1209insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGTTAAA	RHEX	ENSG00000263961.8	transcript	ENST00000331555.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMS2_chr8_103495610_104259430	103517500	A A	ACAGAGAC others(307): Show ACAGAGACACTAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCT CCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp2 HG02922.hp2 others(1): Show HG02615.hp1 HG02895.hp2 HG02922.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0006 a0001c0007t0001 a0001c0001t0006 a0001c0007t0001	a0001c0001t0006g0129 a0001c0007t0001g0127 a0001c0007t0001g0128 others(1): Show a0001c0001t0006g0129 a0001c0007t0001g0127 a0001c0007t0001g0128 a0001c0007t0001g0130	4	172	0.0233	314	c.176 others(333): Show c.176+16455_176+16456insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCAGAGACACTAATTTTT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(307): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATAAAATATATATATATAATATATATATATAAAATATA TATATAAAATATATATATATAATATATATATATAAAATATATATATAAAA TATATATATATAATATATATATAAAATATATATATAAAATATATATATAT AATATATATATAAAATATATATATATAATATATATATATATAAAATATAT ATAAAATATATATATAATATATATATAAAATATATATATAATATATATAT AATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0212 a0004c0005t0006g0212	1	410	0.0024	314	c.67- others(327): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATATTATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATTTTATATATATATTATATATATATATTTTATATATATATTTT ATATATATATATTATATATATATATTTTATATATATATTTTATATATATA TATTATATATATATATTTTATATATATTATATATATATATTTTATATATA TATATTATATATATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(307): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATATAATATATATATAATATATATATATAAAATATATATATAA AATATATATATATAATATATATATAAAATATATATATATATTATATATAT ATATAAAATATATATAAAATATATATATAATATATATATAAAATATATAT ATAATATATATATAATATATATATATAATATATATATATAATATATATAT AATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0174 a0002c0002t0001g0174	1	410	0.0024	314	c.67- others(327): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATATTATATATATATATTATATATATATTATATATATATTTTATATAT ATATTATATATATATTTTATATATATTTTATATATATATATAATATATAT ATATATTTTATATATATATTATATATATATATTTTATATATATATTTTAT ATATATATATTATATATATATTATATATATATATTTTATATATATATATT ATATATATATATTTTATATATATATATTATATATATATATTTTATATATA TATATTATATATATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTTCTTT others(307): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	280	0.0036	314	c.3+2 others(329): Show c.3+24902_3+24903insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RMND1_chr6_151399762_151457126	151430881	T T	TATTAATG others(307): Show TATTAATGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0313 a0003c0003t0001g0313	1	392	0.0026	314	c.690 others(329): Show c.690-705_690-704insTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCGCCATTAAT	RMND1	ENSG00000155906.20	transcript	ENST00000444024.3	protein_coding	4/11			chr6	TogoVar
RNF17_chr13_24759169_24884921	24881896	C C	CTATATAG others(307): Show CTATATAGATATATAATCTATATAGATATATAATCTATATAGATATATAG ATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACAT CTATATAGATATATAGATACATCTATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	426	0.0024	314	c.21 others(325): Show c.2170_*2171insTATATAGATATATAATCTATATAGATATATAATC TATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATA GATATATAGATACATCTATATAGATATATAGATACATCTATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1976		chr13	TogoVar
RNF213_chr17_80255852_80403794	80265065	G G	GGGAGTTT others(307): Show GGGAGTTTTTTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGTGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0023 a0023	a0023c0110 a0023c0110	a0023c0110t0076 a0023c0110t0076	a0023c0110t0076g0171 a0023c0110t0076g0171	1	292	0.0034	314	c.97+ others(329): Show c.97+1304_97+1305insTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGTGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGGAGTTTTTTTGTTCTT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	2/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	288427	A A	ACCCTCTC others(307): Show ACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCAGA CCTCACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCA GACCTCACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGT CAGACCTCACTCCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACC GTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCA CCGTCAGACCTCACT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0060 a0001c0002t0006g0060	1	133	0.0075	314	c.352 others(331): Show c.352-6574_352-6573insAGTGAGGTCTGACGGTGGAGAGAGGGTG TGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAGGG AGTGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAG GGTGCGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAGAG AGGGTGCGAGGTCTGACGGTGGAGAGAGGGAGTGAGGTCTGACGGTGGAG AGAGAGGGAGTGAGGTCTGACGGTGGAGAGAGGGTGCGAGGTCTGACGGT GGAGAGAGGGAGTGAGGTCTGACGGTGGAGAGAGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPS7_chr2_3570260_3585920	3582716	G G	GAAAAGAA others(307): Show GAAAAGAAGAAACTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	430	0.0023	314	c.18 others(325): Show c.1834_*1835insAAAAGAAGAAACTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCC	RPS7	ENSG00000171863.15	transcript	ENST00000645674.2	protein_coding		1797		chr2	TogoVar
RPS7_chr2_3570260_3585920	3582716	G G	GAAAAGAA others(307): Show GAAAAGAAGAAACTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	430	0.0023	314	c.18 others(325): Show c.1834_*1835insAAAAGAAGAAACTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCC	RPS7	ENSG00000171863.15	transcript	ENST00000645674.2	protein_coding		1797		chr2	TogoVar
RSU1_chr10_16585611_16822424	16645978	G G	GTGTATAT others(307): Show GTGTATATATACATATATACACATATATGTATATACACATATATGTATAT ATACATATATATACATATATGTGTATATATACATATATACACATATACGT ATATATACATATATGTATATATACATATACGTATATATACATATATGTAT ATATACATATACGTATATATACATATATGTATATATACATATACGTATAT ATACATATATGTATATATACATATACGTATATATACATATGTGTATATAT ACATATACGTATATATACATATGTGTATATATACATATATATGTGTGTGT ATATACATATATGTA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0042 a0001c0001t0047g0042	1	190	0.0053	314	c.731 others(333): Show c.731+49044_731+49045insTACATATATGTATATACACACACATA TATATGTATATATACACATATGTATATATACGTATATGTATATATACACA TATGTATATATACGTATATGTATATATACATATATGTATATATACGTATA TGTATATATACATATATGTATATATACGTATATGTATATATACATATATG TATATATACGTATATGTATATATACATATATGTATATATACGTATATGTG TATATATGTATATATACACATATATGTATATATATGTATATATACATATA TGTGTATATACATATATGTGTATATATGTATATATACA	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16748873	T T	TCCCAGAG others(307): Show TCCCAGAGCTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTC CGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTG GGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACAGGGTTTCACCGTGTTAGCCAGGAGGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp2 HG02886.hp2 others(4): Show HG02615.hp1 HG02630.hp2 HG02886.hp2 HG03471.hp2 HG03486.hp2 NA18906.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0031 a0001c0001t0046 a0001c0001t0061	a0001c0001t0002g0033 a0001c0001t0002g0052 a0001c0001t0006g0143 others(4): Show a0001c0001t0002g0033 a0001c0001t0002g0052 a0001c0001t0006g0143 a0001c0001t0010g0028 a0001c0001t0031g0003 a0001c0001t0046g0050 a0001c0001t0061g0186	7	190	0.0368	314	c.598 others(331): Show c.598+3665_598+3666insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCCTCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGA GGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGA GCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAGAGCTCTGGG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(307): Show GGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGG GAGGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGGAGGAGGGAGGG GGAGAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGA GGAAGAGGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAG GAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGAGGA GAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0352 a0001c0002t0005g0352	1	396	0.0025	314	c.807 others(331): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTCCTCCTCCTCCT TCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCTC CCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCC CTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar

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