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
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(309): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACT ACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCTGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0002 a0002c0002t0007g0002	1	228	0.0044	316	c.-38 others(335): Show c.-38-11568_-38-11567insTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTA CAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCTGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	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(309): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGAC TACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCTGAATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0219 a0002c0002t0028g0219	1	228	0.0044	316	c.-38 others(335): Show c.-38-11568_-38-11567insTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACT ACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCTGAATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHACTR4_chr1_28364740_28505364	28419029	T T	TCTACTTT others(309): Show TCTACTTTTATGATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0024 a0001c0006t0024	a0001c0006t0024g0117 a0001c0006t0024g0117	1	228	0.0044	316	c.16+ others(333): Show c.16+11585_16+11586insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAG GCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCTACTTTTATGATTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHYHIPL_chr10_59171643_59252770	59225143	T T	TAAGAAAT others(309): Show TAAGAAATGAAAATAGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTAGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp2 HG01255.hp1 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0177 a0002c0002t0001g0189 a0002c0002t0001g0177 a0002c0002t0001g0189	2	202	0.0099	316	c.107 others(333): Show c.107-9143_107-9142insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTAGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAGAAATGAAAATAGAGG	PHYHIPL	ENSG00000165443.12	transcript	ENST00000373880.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PIGK_chr1_77083989_77224430	77168629	T T	TAAAATTG others(309): Show TAAAATTGCTTCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01167.hp2 HG01169.hp1 others(36): Show HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01884.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA19043.hp2 NA19072.hp1 NA20300.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0010 a0002c0002t0021 a0002c0002t0004 a0002c0002t0010 a0002c0002t0021	a0002c0002t0004g0010 a0002c0002t0004g0291 a0002c0002t0004g0292 others(34): Show a0002c0002t0004g0010 a0002c0002t0004g0291 a0002c0002t0004g0292 a0002c0002t0004g0294 a0002c0002t0004g0295 a0002c0002t0004g0296 a0002c0002t0004g0299 a0002c0002t0004g0300 a0002c0002t0004g0301 a0002c0002t0004g0302 a0002c0002t0004g0303 a0002c0002t0004g0304 a0002c0002t0004g0305 a0002c0002t0004g0306 a0002c0002t0004g0307 a0002c0002t0004g0308 a0002c0002t0004g0309 a0002c0002t0004g0310 a0002c0002t0004g0311 a0002c0002t0004g0313 a0002c0002t0004g0314 a0002c0002t0004g0315 a0002c0002t0004g0316 a0002c0002t0004g0317 a0002c0002t0004g0318 a0002c0002t0004g0321 a0002c0002t0004g0324 a0002c0002t0004g0326 a0002c0002t0004g0327 a0002c0002t0004g0328 a0002c0002t0004g0329 a0002c0002t0004g0330 a0002c0002t0004g0331 a0002c0002t0010g0011 a0002c0002t0010g0293 a0002c0002t0010g0323 a0002c0002t0021g0297	39	366	0.1066	316	c.375 others(331): Show c.375+630_375+631insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTTGAAGCAATTTT	PIGK	ENSG00000142892.15	transcript	ENST00000370812.8	protein_coding	4/10			chr1	TogoVar
PIK3C2G_chr12_18256518_18653416	18529123	A A	AGATGACT others(309): Show AGATGACTGTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03130.hp2 NA19043.hp1 others(1): Show HG02559.hp2 HG03130.hp2 NA19043.hp1 NA20129.hp1	a0004 a0004	a0004c0006 a0004c0042 a0004c0006 a0004c0042	a0004c0006t0001 a0004c0006t0002 a0004c0042t0002 a0004c0006t0001 a0004c0006t0002 a0004c0042t0002	a0004c0006t0001g0144 a0004c0006t0002g0058 a0004c0006t0002g0107 others(1): Show a0004c0006t0001g0144 a0004c0006t0002g0058 a0004c0006t0002g0107 a0004c0042t0002g0174	4	176	0.0227	316	c.332 others(335): Show c.3324-9018_3324-9017insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCGATGACTGTTTCTTT	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	24/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIR_chrX_15379799_15498333	15401360	G G	GTAAACCT others(309): Show GTAAACCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp1 HG03195.hp1 others(2): Show HG02258.hp1 HG02922.hp1 HG03195.hp1 HG03225.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 others(2): Show a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0114	5	272	0.0184	316	c.611 others(333): Show c.611-3830_611-3829insTCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAA GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAG TCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGTTTA	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	7/9			chrX	TogoVar
PKN2_chr1_88679273_88841255	88753699	T T	TACACACT others(309): Show TACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0036 a0001c0005t0009g0036	1	330	0.0030	316	c.350 others(333): Show c.350-6513_350-6512insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTG CAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGACACACTTTT	PKN2	ENSG00000065243.20	transcript	ENST00000370521.8	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKP3_chr11_389209_409908	401789	C C	CGCTCACC others(309): Show CGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACC CCCGGCCCCGCTCACACCCGCCCTGCTCACACCCGCCCCGCTCACACCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCAC CCCCAGCCCCGCTCACA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	216	0.0046	316	c.173 others(335): Show c.1737+1084_1737+1085insGCTCACCCCCGGCCCCGCTCACCCCG GCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCC GCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCTGCT CACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCAC ACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACACCCGCCCCGCTCACCCCCAGCCCCGCTCACA	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	401808	G G	GCCCCGCT others(309): Show GCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC GCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCT CACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCC CGCTCACACCCGCCCCGCTCACCCCCAGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0208 a0001c0016t0001g0208	1	216	0.0046	316	c.173 others(335): Show c.1737+1103_1737+1104insCCCCGCTCACACCCGCCCCGCTCACA CCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGG CCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCC GCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCT CACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCAC ACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCA GCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	401808	G G	GCCCCGCT others(309): Show GCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC GCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCT CACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCC CGCTCACACCCGCCCCGCTCACCCCCAGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	216	0.0046	316	c.173 others(335): Show c.1737+1103_1737+1104insCCCCGCTCACACCCGCCCCGCTCACA CCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGG CCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCC GCTCACACCCGGCCCCGCTCACACCGGCCCCGCTCACACCCGGCCCCGCT CACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCA GCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLEKHA6_chr1_204213853_204364929	204269327	C C	CAGAAACC others(309): Show CAGAAACCTCATCTATTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA ATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCG AGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTC AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	270	0.0037	316	c.103 others(333): Show c.103-1016_103-1015insTTTTTTTTTTTTTTTTTGAGACGGAGTT TCGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCGACAATAGATGAGGTTTCT	PLEKHA6	ENSG00000143850.16	transcript	ENST00000272203.8	protein_coding	3/22			chr1	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(309): Show GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGC GCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGC GGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18947.hp1 HG02922.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0005 a0001c0001t0001 a0001c0016t0005	a0001c0001t0001g0159 a0001c0016t0005g0160 a0001c0001t0001g0159 a0001c0016t0005g0160	2	210	0.0095	316	c.45+ others(327): Show c.45+94_45+95insCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGG GGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGG GCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101615	T T	TCTATAGG others(309): Show TCTATAGGGGAGAGATTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAA AAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGG AAAAAGTCTGTAGGGGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTG GGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCC CTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAA GCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATAT AAAGCCCTGGAAAAAGC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0143 a0001c0007t0008g0145 a0001c0007t0008g0143 a0001c0007t0008g0145	2	210	0.0095	316	c.45+ others(331): Show c.45+9341_45+9342insATAGGGGAGAGATTGTTGTGAGGTTAATCC ATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGACTGTTGTGAGGTAA ATCCATATAAAGCCCTGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGG TTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTG AGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTT GTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLPPR1_chr9_101023727_101330135	101308670	T T	TAAGATCC others(309): Show TAAGATCCTCCTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0075 a0001c0001t0021g0075	1	203	0.0049	316	c.386 others(331): Show c.386-530_386-529insGGCCAGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAGATCCTCCT	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLXDC2_chr10_19811432_20294856	19916316	T T	TTGTATTT others(309): Show TTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCACCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01978.hp1 HG02055.hp2 others(1): Show HG01106.hp2 HG01978.hp1 HG02055.hp2 NA19030.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0094 a0002c0002t0048 a0003c0003t0104 others(1): Show a0001c0001t0094 a0002c0002t0048 a0003c0003t0104 a0004c0004t0040	a0001c0001t0094g0105 a0002c0002t0048g0084 a0003c0003t0104g0081 others(1): Show a0001c0001t0094g0105 a0002c0002t0048g0084 a0003c0003t0104g0081 a0004c0004t0040g0007	4	180	0.0222	316	c.113 others(335): Show c.113-85447_113-85446insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCACCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTGTATTTTTTTT	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(309): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATATATTTATATATAATATATATTATAT ATAAAAATATATTTATATATATTATATTATATATAATATATTATATATAT TATATTATATATAATATATTATATATATTATATATAATATATTATATATA TTATATTATATATAATATATTATATATATTATATTATATATAATATATTA TATATATTATATTATATATAATATATTATATATATTATATTATATATAAT ATATTATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA19091.hp1 NA18973.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	286	0.0070	316	c.-50 others(327): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATAATATATATAATATATTATATATAATATAATATATATAATATATTAT ATATAATATATATAATATATTATATATAATATAATATATATAATATATTA TATATAATATAATATATATAAATATATTTTTATATATAATATATATTATA TATAAATATATATTATATATAATATATATTATATTATATATAATATATTT TTATATAAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PPEF2_chr4_75854867_75907452	75861614	G G	GTTTTTTT others(309): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCAGTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	270	0.0037	316	c.200 others(333): Show c.2009-695_2009-694insAAAAACTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	16/16			chr4	TogoVar
PPM1H_chr12_62638994_62940150	62813922	T T	TAAAACGT others(309): Show TAAAACGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0105 a0001c0001t0005g0105	1	252	0.0040	316	c.412 others(335): Show c.412-11763_412-11762insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACGTTTT	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	2/9			chr12	TogoVar
PPP1R16B_chr20_38800697_38928024	38896002	C C	CCTTCCTC others(309): Show CCTTCCTCCCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTTCCCT CCCTCCCTCCTCCCTTCTTTCTTCCCTCCCTCCCTCCTTTCTTCTTTCTT CCCTCCCTCCCTCCTCCCTTCTTTCTTCCCTCCCTCCCTCCTCCCTTCTT TCTTCCCTCCCTCCCTCCTCCCTTCTTTCTCTCCTCCCTTCCTCCCTTCT TTCTTCCCTCCCTCCCTCCTTTCTTCTTTCTTCCCTCCCTCCCTCCTCCC TTCTTTCTCTCCTCCCTTCCTCCCTTCTTTCTTCCCTCCCTCCCTCCCTT TCTTTTTTCTTCCCTCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0025 a0001c0007t0025	a0001c0007t0025g0042 a0001c0007t0025g0042	1	244	0.0041	316	c.467 others(331): Show c.467+297_467+298insTCCCTTCTTTCTTCCCTCCCTCCCTCCTTC CTTCTTTCTTCCCTCCCTCCCTCCTCCCTTCTTTCTTCCCTCCCTCCCTC CTTTCTTCTTTCTTCCCTCCCTCCCTCCTCCCTTCTTTCTTCCCTCCCTC CCTCCTCCCTTCTTTCTTCCCTCCCTCCCTCCTCCCTTCTTTCTCTCCTC CCTTCCTCCCTTCTTTCTTCCCTCCCTCCCTCCTTTCTTCTTTCTTCCCT CCCTCCCTCCTCCCTTCTTTCTCTCCTCCCTTCCTCCCTTCTTTCTTCCC TCCCTCCCTCCCTTTCTTTTTTCTTCCCTCACTTCC	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R3B_chr8_9131255_9155658	9155444	T T	TCCAGAAA others(309): Show TCCAGAAACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	444	0.0023	316	c.-49 others(327): Show c.-4900_-4899insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAGTTTCTGG	PPP1R3B	ENSG00000173281.5	transcript	ENST00000310455.4	protein_coding		4787		chr8	TogoVar
PREX2_chr8_67947046_68242032	68069557	T T	TAGAAATT others(309): Show TAGAAATTTTATATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCAGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0008 a0008	a0008c0053 a0008c0053	a0008c0053t0019 a0008c0053t0019	a0008c0053t0019g0070 a0008c0053t0019g0070	1	190	0.0053	316	c.144 others(333): Show c.1444-262_1444-261insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCAGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAGAAATTTTATATTTT	PREX2	ENSG00000046889.19	transcript	ENST00000288368.5	protein_coding	12/39		INFO_REALIGN_3_PRIME	chr8	TogoVar
PRKACA_chr19_14086688_14122762	14090084	C C	CCGGCGGC others(309): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAG CGGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGG GGGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGC GGCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCG GTGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGGG GCCCCGCGGGGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	358	0.0028	316	c.30 others(327): Show c.3027_*3028insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTCGCC GCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGCCACAGC GCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGCGGGCCG CGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCGGTGGCG CCCCCGGCCGGCCCGCGCCGCGCCCCCCCCGCCCGCCGTCGCCGCCCGGG AGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding		1603		chr19	TogoVar
PRKCZ_chr1_2045411_2190395	2106480	A A	ACCTCCAT others(309): Show ACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCACA CGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCAGTGGGCGAGGA CCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCTGGT GGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCC CCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTT CAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAG GTGACTCTCAGCAAGCC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0059 a0001c0003t0001g0059	1	286	0.0035	316	c.335 others(335): Show c.335-28776_335-28775insTGCGTGTCACCAGGCCAGGTAACTCT CAGCAAGCCCCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCC CCTCCAGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTT CAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAG GTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCAC CAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCAT GCGTGTCACCAGGCCAGGTGACTCTCAGCAAGCCCCTCCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PROZ_chr13_113153648_113177386	113154196	G G	GAGGCGGG others(309): Show GAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGG GCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG GGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGG GCGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCG TGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACG TGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGG AGGCGGGGCGCGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	378	0.0027	316	c.-44 others(327): Show c.-4465_-4464insAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGC GGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGG CGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCG TGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGG GAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGA GGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGA	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4451		chr13	TogoVar
PRPH2_chr6_42691598_42727597	42702568	T T	TAAGAAAT others(309): Show TAAGAAATATCTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(107): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01167.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp2 HG01981.hp1 HG02027.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18960.hp1 NA18968.hp2 NA18969.hp2 NA18973.hp1 NA18983.hp2 NA18984.hp2 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19007.hp1 NA19009.hp2 NA19030.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0006 a0001c0002t0009 a0001c0002t0024	a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0029 others(106): Show a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0006g0089 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0249 a0001c0002t0001g0254 a0001c0002t0001g0257 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0305 a0001c0002t0001g0309 a0001c0002t0001g0312 a0001c0002t0001g0314 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0331 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0337 a0001c0002t0001g0338 a0001c0002t0001g0339 a0001c0002t0001g0342 a0001c0002t0001g0343 a0001c0002t0001g0344 a0001c0002t0001g0346 a0001c0002t0001g0348 a0001c0002t0001g0351 a0001c0002t0001g0352 a0001c0002t0001g0353 a0001c0002t0001g0354 a0001c0002t0006g0289 a0001c0002t0006g0290 a0001c0002t0006g0321 a0001c0002t0006g0332 a0001c0002t0009g0232 a0001c0002t0009g0246 a0001c0002t0009g0258 a0001c0002t0009g0350 a0001c0002t0024g0311	110	392	0.2806	316	c.828 others(333): Show c.828+1796_828+1797insTCTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAGAGATATTTCTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	2/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42702568	T T	TAAGAAAT others(309): Show TAAGAAATATCTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAA AAAAAAAAAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	392	0.0026	316	c.828 others(333): Show c.828+1796_828+1797insTCTTTCTTTTTTTTTTTTTTTGAGACGG AGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAGAGATATTTCTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	2/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42702568	T T	TAAGAAAT others(309): Show TAAGAAATATCTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG06807.hp2 HG02630.hp1 HG02818.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0006 a0001c0001t0001g0027	3	392	0.0077	316	c.828 others(333): Show c.828+1796_828+1797insTCTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAGAGATATTTCTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	2/2			chr6	TogoVar
PRR5L_chr11_36291288_36470204	36351047	T T	TTTATATG others(309): Show TTTATATGTATTTTATATATAAATATATATTTATAAATATATGTATTTTA TATATAAATATATATTTATAAATATATGTATTTTATATATAAATATATAT TTATAAATATATGTATTTTATATATAAATATATATTTATAAATATATGTA TTTTATATATAAATATATATTTATAAATATATGTATTTTATATATAAATA TATATTTATAAATATATGTATTTTATATATAAATATATATTTATAAATAT ATGTATTTTATATATAAATATATATTTATAAATATATGTATTTTATATAT AAATATATATTTATAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0063 a0002c0004t0003g0063	1	272	0.0037	316	c.-12 others(337): Show c.-125-49949_-125-49948insTATATGTATTTTATATATAAATAT ATATTTATAAATATATGTATTTTATATATAAATATATATTTATAAATATA TGTATTTTATATATAAATATATATTTATAAATATATGTATTTTATATATA AATATATATTTATAAATATATGTATTTTATATATAAATATATATTTATAA ATATATGTATTTTATATATAAATATATATTTATAAATATATGTATTTTAT ATATAAATATATATTTATAAATATATGTATTTTATATATAAATATATATT TATAAATATATGTATTTTATATATAAATATATATTTATAAAT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRRX2_chr9_129660647_129727674	129689821	T T	TGGCTCAC others(309): Show TGGCTCACTGCAACCTCTGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCA GTCTCCAGAGTAGCTGGAATTACAGGCATGCGCCACCACACCCAGCTAAT TTTTGTATTTGTAGTAGGGACGGGGTTTCGCCATGTTAGTCAGGCTGGTC TCAAACTGCTGACCTCAGGTGATTCGCCCGTCTCAGCCTCCCAACGTGTT GGGATTACAGGCATGAGCCACTGTGCCCAGCCAATGGCATCTTTTTTTTT TTTTTTTTTCTTTTTCTGAGATGAAGTCTCACTCTGTTGCCAGGCTGGAG TGCAGTGGCGTGATCTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	358	0.0028	316	c.259 others(335): Show c.259+23719_259+23720insGGGTTCAAGTGATTCTCCTGCCTCAG TCTCCAGAGTAGCTGGAATTACAGGCATGCGCCACCACACCCAGCTAATT TTTGTATTTGTAGTAGGGACGGGGTTTCGCCATGTTAGTCAGGCTGGTCT CAAACTGCTGACCTCAGGTGATTCGCCCGTCTCAGCCTCCCAACGTGTTG GGATTACAGGCATGAGCCACTGTGCCCAGCCAATGGCATCTTTTTTTTTT TTTTTTTTCTTTTTCTGAGATGAAGTCTCACTCTGTTGCCAGGCTGGAGT GCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGTCTCCC	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PTPN3_chr9_109370700_109503307	109499103	C C	CAAAAATT others(309): Show CAAAAATTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0002 a0002c0016t0002	a0002c0016t0002g0122 a0002c0016t0002g0122	1	290	0.0035	316	c.-90 others(325): Show c.-903_-902insTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCAGAATTTTT	PTPN3	ENSG00000070159.14	transcript	ENST00000374541.4	protein_coding		797		chr9	TogoVar
PTPRD_chr9_8309246_10618002	10461248	T T	TAAGAATG others(309): Show TAAGAATGGGGGAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAAACCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0022 a0001c0001t0013g0022	1	34	0.0294	316	c.-59 others(339): Show c.-599-120232_-599-120231insTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGTTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTCCCCCATTCTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10461248	T T	TAAGAATG others(309): Show TAAGAATGGGGGAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0027 a0001c0003t0004g0027	1	34	0.0294	316	c.-59 others(339): Show c.-599-120232_-599-120231insTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTCCCCCATTCTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRM_chr18_7562316_8411856	7985582	C C	CTGGTAGA others(309): Show CTGGTAGATACGTAAATATATACATATACTGGTAGATACGTATATAAATA TATACATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGA TACGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATA CATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACG TATATAAATATATACATATACTGGTAGATACGTATATAAATATATACATA TACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATA TAAATATATACATATAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02572.hp1 HG02723.hp1 HG00639.hp2 HG02572.hp1 HG02723.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0010 a0002c0011 a0001c0006 a0002c0010 a0002c0011	a0001c0006t0004 a0002c0010t0001 a0002c0011t0002 a0001c0006t0004 a0002c0010t0001 a0002c0011t0002	a0001c0006t0004g0070 a0002c0010t0001g0047 a0002c0011t0002g0029 a0001c0006t0004g0070 a0002c0010t0001g0047 a0002c0011t0002g0029	3	80	0.0375	316	c.113 others(337): Show c.1132+30181_1132+30182insAATATATACATATACTGGTAGATA CGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATACA TATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTA TATAAATATATACATATACTGGTAGATACGTATATAAATATATACATATA CTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATATA AATATATACATATACTGGTAGATACGTATATAAATATATACATATACTGG TAGATACGTATATAAATATATACATATAATGGTAGATACGTA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB27B_chr18_54823477_54900516	54873094	T T	TCCTACTT others(309): Show TCCTACTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18906.hp1 HG02258.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0029 a0001c0001t0004 a0001c0001t0029	a0001c0001t0004g0110 a0001c0001t0029g0074 a0001c0001t0004g0110 a0001c0001t0029g0074	2	334	0.0060	316	c.-19 others(333): Show c.-19-4461_-19-4460insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCCTACTTTGTTT	RAB27B	ENSG00000041353.10	transcript	ENST00000262094.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB27B_chr18_54823477_54900516	54873642	C C	CAAAAAAA others(309): Show CAAAAAAATCACATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGAGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0194 a0001c0001t0040g0194	1	334	0.0030	316	c.-19 others(333): Show c.-19-3911_-19-3910insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGAGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATCACATA	RAB27B	ENSG00000041353.10	transcript	ENST00000262094.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAD21_chr8_116840934_116879776	116854051	T T	TAGAAATG others(309): Show TAGAAATGCAGGTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0186 a0001c0001t0006g0186	1	428	0.0023	316	c.116 others(333): Show c.1161+193_1161+194insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACACCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGAGACCTGCATTTCT	RAD21	ENSG00000164754.16	transcript	ENST00000297338.7	protein_coding	9/13			chr8	TogoVar
RAD51B_chr14_67814779_68483093	68065803	T T	TAAAATTT others(309): Show TAAAATTTAGGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	84	0.0119	316	c.756 others(337): Show c.756+178613_756+178614insTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAAAATTTAGGTTTT	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RALA_chr7_39618572_39713120	39710094	T T	TCCTCCCA others(309): Show TCCTCCCATATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03491.hp2 HG03490.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0302 a0001c0001t0003g0335 a0001c0001t0003g0302 a0001c0001t0003g0335	2	366	0.0055	316	c.38 others(327): Show c.3849_*3850insCCTCCCATATTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCA	RALA	ENSG00000006451.8	transcript	ENST00000005257.7	protein_coding		1975		chr7	TogoVar
RBM14_chr11_66611630_66634934	66615753	G G	GCTAATTT others(309): Show GCTAATTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0001 a0001c0001t0014g0001	1	408	0.0025	316	c.-96 others(325): Show c.-968_-967insCTAATTTTGTATTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGC	RBM14	ENSG00000239306.5	transcript	ENST00000310137.5	protein_coding		876		chr11	TogoVar
RERE_chr1_8347404_8822640	8386567	A A	AGAACTCT others(309): Show AGAACTCTTTTTTTTTTTTTTTTTTTTTTTTCTTTGAGACGGAGTCTCGC TCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	204	0.0049	316	c.128 others(337): Show c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC TCCGTCTCAAAGAAAAAAAAAAAAAAAAAAAAAAAAGAGTTC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8386567	A A	AGAACTCT others(309): Show AGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG01167.hp2 others(26): Show HG00280.hp1 HG00609.hp2 HG01167.hp2 HG01169.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG02004.hp2 HG02027.hp1 HG02080.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02523.hp1 HG02698.hp2 HG03491.hp2 HG03688.hp1 HG03831.hp2 HG04199.hp2 NA18944.hp1 NA18967.hp1 NA18983.hp2 NA18985.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0018 others(1): Show a0001c0001 a0001c0004 a0001c0018 a0002c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0036 a0001c0004t0001 a0001c0004t0003 a0001c0018t0001 a0002c0006t0003	a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0039 others(26): Show a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0003g0124 a0001c0001t0006g0154 a0001c0001t0006g0170 a0001c0001t0006g0184 a0001c0001t0036g0194 a0001c0004t0001g0049 a0001c0004t0003g0092 a0001c0018t0001g0005 a0002c0006t0003g0139	29	204	0.1422	316	c.128 others(337): Show c.1285-20594_1285-20593insGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTTC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(309): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTGTATACATACGTATGTATGTGTATACA TACATACGTATGTATGTGTATACATACATACGTATGTATGTGTATACATA CGTATGTATGTGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	316	c.-23 others(327): Show c.-2310_-2309insGTATACACATACATACGTATGTATACACATACAT ACGTATGTATGTATACACATACATACGTATGTATGTATACACATACATAC GTATGTATACACATACATACGTATGTATACACATACATACATACGTATGT ATACACATACATACATACGTATGTATACACATACATACATACGTATGTAT ACACATACATACATACGTATGTATACACATACATACATACGTATGTATAC ACATACATACATACGTATGTATACACATACATACATACGTATGTATACAC ATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RFX4_chr12_106578004_106767803	106728297	T T	TCCTCATG others(309): Show TCCTCATGTATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02615.hp2 HG02630.hp2 others(5): Show HG02257.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02896.hp1 HG03195.hp2 HG03471.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0006 a0001c0003 a0003c0006	a0001c0003t0001 a0003c0006t0001 a0001c0003t0001 a0003c0006t0001	a0001c0003t0001g0008 a0001c0003t0001g0018 a0001c0003t0001g0071 others(5): Show a0001c0003t0001g0008 a0001c0003t0001g0018 a0001c0003t0001g0071 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0161 a0001c0003t0001g0230 a0003c0006t0001g0115	8	296	0.0270	316	c.135 others(335): Show c.1352-3822_1352-3821insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCCCTCATGTATT	RFX4	ENSG00000111783.13	transcript	ENST00000392842.6	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
RGS20_chr8_53846795_53964303	53849671	T T	TCTGATGA others(309): Show TCTGATGATAATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02895.hp2 HG02922.hp1 others(12): Show HG02559.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp1 HG06807.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0002g0016 others(12): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0002g0016 a0001c0001t0003g0001 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0002t0001g0005 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0003g0003	15	258	0.0581	316	c.-22 others(327): Show c.-2229_-2228insCTGATGATAATTTCTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGC	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding		2123		chr8	TogoVar
RIPOR3_chr20_50581108_50696542	50666193	T T	TTTTTCCT others(309): Show TTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0088 a0001c0003t0002g0088	1	280	0.0036	316	c.3+2 others(331): Show c.3+24932_3+24933insGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTCCTTT others(309): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCCTTCTTCCTTTCCTTTCCTAT CCTTTCCTTTCCTTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0159 a0002c0002t0002g0159	1	280	0.0036	316	c.3+2 others(331): Show c.3+24902_3+24903insGAAAAGGAAAGGAAAGGATAGGAAAGGAAA GGAAGAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGA AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50685662	T T	TAAAAATA others(309): Show TAAAAATACAGAAATCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCTTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAATACAAAAAAT TAGCCGGGAGTGTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAACCTGGGAGACACAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19087.hp1 NA18952.hp2 NA19087.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0019 a0001c0001 a0014c0019	a0001c0001t0001 a0014c0019t0001 a0001c0001t0001 a0014c0019t0001	a0001c0001t0001g0065 a0014c0019t0001g0064 a0001c0001t0001g0065 a0014c0019t0001g0064	2	280	0.0071	316	c.3+5 others(329): Show c.3+5463_3+5464insTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTGTGTCTCCCAGGTTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCAACACTCCCGGCTAATTTTTTGTATTTTT AGTAGAAACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGT GAGCCACCGCGCCCGGCCTGATTTCTGTATTTTT	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50685662	T T	TAAAAATA others(309): Show TAAAAATACAGAAATCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCTTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAACCTGGGAGACACAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp2 HG01081.hp1 others(36): Show HG00140.hp1 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01943.hp1 HG02027.hp2 HG02129.hp1 HG02132.hp2 HG02258.hp2 HG02622.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG03017.hp2 HG03098.hp1 HG03453.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18950.hp2 NA18951.hp2 NA18955.hp2 NA18986.hp1 NA19002.hp1 NA19010.hp2 NA19012.hp2 NA19070.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0016	a0001c0001 a0001c0003 a0001c0007 others(10): Show a0001c0001 a0001c0003 a0001c0007 a0001c0010 a0001c0021 a0001c0030 a0001c0034 a0002c0002 a0002c0026 a0003c0027 a0005c0012 a0006c0013 a0016c0017	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0007t0002 a0001c0010t0002 a0001c0021t0002 a0001c0030t0001 a0001c0034t0001 a0002c0002t0001 a0002c0002t0002 a0002c0026t0001 a0003c0027t0001 a0005c0012t0001 a0006c0013t0001 a0016c0017t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0045 others(36): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0002g0043 a0001c0001t0002g0084 a0001c0003t0002g0053 a0001c0007t0002g0044 a0001c0010t0002g0083 a0001c0021t0002g0047 a0001c0030t0001g0079 a0001c0034t0001g0059 a0002c0002t0001g0052 a0002c0002t0001g0057 a0002c0002t0001g0061 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0080 a0002c0002t0002g0050 a0002c0002t0002g0062 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0026t0001g0036 a0003c0027t0001g0063 a0005c0012t0001g0042 a0006c0013t0001g0076 a0016c0017t0001g0078	39	280	0.1393	316	c.3+5 others(329): Show c.3+5463_3+5464insTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTGTGTCTCCCAGGTTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCAACACGCCCGGCTAATTTTTTGTATTTTT AGTAGAAACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGT GAGCCACCGCGCCCGGCCTGATTTCTGTATTTTT	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF17_chr13_24759169_24884921	24881964	A A	ATATAGAT others(309): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0182 a0003c0006t0001g0182	1	426	0.0024	316	c.22 others(327): Show c.2238_*2239insTATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2044		chr13	TogoVar

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