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
MTTP_chr4_99569824_99628997	99589024	T T	TGTATATT others(401): Show TGTATATTCATATATATATGTTCATGTATATTCATATATATATGTTCATA TATATATTCATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0039 a0004c0004t0001g0039	1	350	0.0029	408	c.394 others(423): Show c.394-619_394-618insGTATATTCATATATATATGTTCATGTATAT TCATATATATATGTTCATATATATATTCATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTC	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
NCAPG2_chr7_158626169_158709804	158667663	T T	TTCCTTAC others(401): Show TTCCTTACCGACCCTGGGTCCCTCCGCCCCCCGTTACCCACTACTGGGTC CCTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACT ACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC CGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTG GGTCCCTCCGCCCTCCTTACCCACTACTGGGGTCCCTCCGCCCTCCTTAC CCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCC CTCCCTTACCCACAACTGGGTCCCTCCGCCTCCTTACCCACTACTGGGTC CCTCCGCCC	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	163	0.0061	408	c.148 others(427): Show c.1480-2914_1480-2913insGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGG ACCCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCG GGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGG GTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCC AGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC CTAGGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCAGTAGTGGGTAA CGGGGGGCGGAGGGACCCAGGGTCGGTAAGGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667982	T T	TTCCTTAC others(401): Show TTCCTTACCGACCCTGGGTCCCTCCGCCCCCCGTTACCCACTACTGGGTC CCTCCGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACT ACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC CGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTG GGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACC CACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCC TCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTC CCTCCGCCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	154	0.0065	408	c.148 others(427): Show c.1480-3233_1480-3232insGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCG GGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGG GTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCC AGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC CTAGGGACACAAGGTAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAA CGGGGGGCGGAGGGACCCAGGGTCGGTAAGGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667983	T T	TCCTTACC others(401): Show TCCTTACCGACCCTGGGTCCCTCCGCCCCCCCTTACCCACTACTGGGTCC CTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTA CTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTT ACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCC GCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACAACTGG GTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCC ACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCT CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCC CTCCGCCCG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0189 a0001c0004t0001g0189	1	257	0.0039	408	c.148 others(427): Show c.1480-3234_1480-3233insCGGGCGGAGGGACCCAGTTGTGGGTA AGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTG GGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGAC CCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGG CCTAGGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCAGTAGTGGGTA AGGGGGGGCGGAGGGACCCAGGGTCGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCR1_chr19_54901148_54918073	54916317	C C	CTTTTTTT others(401): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGAAGT CCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCTGCA ACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAAGTGCGTGCCACCACGCCCGGCTAATTTTTGTATTTTT AGTAGAGATGGGGTTTCTCCATGTTGGTCTCAAACTCCTGGTCTCAGGTG ATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCAC CACACCCAGCTACTTGTGCTTTTTGACCAACATCTTCCTCTCCTACCACC CCCAGCCCCTGATAACCTCCACCTACTCTCACTTCTAGGAGATCAACTGT TCTATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 NA18612.hp2 NA18747.hp1 others(2): Show HG02523.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18992.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0002 a0003c0004t0006 a0002c0002t0002 a0003c0004t0006	a0002c0002t0002g0024 a0003c0004t0006g0007 a0003c0004t0006g0122 a0002c0002t0002g0024 a0003c0004t0006g0007 a0003c0004t0006g0122	5	150	0.0333	408	c.34 others(419): Show c.3446_*3447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGAAGTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGC GATCTTGACTCTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAAGTGCGTGCCACCACGCCCGGCT AATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCTCAAAC TCCTGGTCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGACGTGAGCCACCACACCCAGCTACTTGTGCTTTTTGACCAACATCT TCCTCTCCTACCACCCCCAGCCCCTGATAACCTCCACCTACTCTCACTTC TAGGAGATCAACTGTTCTATTTTT	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding		3245		chr19	TogoVar
NELFB_chr9_137250327_137278542	137273778	G G	GGGGAGGA others(401): Show GGGGAGGATGATATAATTTCTGGGGAGGTTGATGTAATTTCTGGGGAGGT TGATATAATTTCTGGGGAGGATATAATAATTTCTGGGGGAGGTTGATAAA ATTTCTGGGGGAGGATATAATAATTTCTGGGGAGGTTGATATAATTTCTG GGGGAGGTTGATATAATTTCTGGGGAGGATGATATAATAATTTCTGGGGG AAGTTGATATAATTTCTGGGGGAGGTTGATGTAATTTCTGGGGAGGTTGA TATAATTTCTGGGGGAGGATATAATTTCTGGGGGAGGTTGATATAATTTC TGGGGAGGTTGATATAATTTCTGGGGAGGATATAATAATTTCTGGGGGAG GTTGATATAATTTCTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGAT ATAATTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0048	1	362	0.0028	408	c.85 others(417): Show c.850_*851insGGGAGGATGATATAATTTCTGGGGAGGTTGATGTAA TTTCTGGGGAGGTTGATATAATTTCTGGGGAGGATATAATAATTTCTGGG GGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGAGGTT GATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGAGGATGATATAA TAATTTCTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTAATTT CTGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGGGAGG TTGATATAATTTCTGGGGAGGTTGATATAATTTCTGGGGAGGATATAATA ATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTAATTTCT GGGGGAGGTTGATATAATTTCT	NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding		237		chr9	TogoVar
NFILZ_chr19_8625633_8686151	8663415	G G	GTGGGGAA others(401): Show GTGGGGAAGGTGGAGGGGGAGCTGGTGGTGGGGAGGGGTGGAACTGCCAT GAACTGAGATGGGGAAGGTGGAGGGGACGCTGGTGGTGGGGAGGGGTGGA ACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGGCGCTGGTGGTGGGGA GGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGGAGCTGG TGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGG GACGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAG GTGGAGGGGGCGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGA TGGGGAAGGTGGAGGGGGGCGCTGGTGGTGGGGAGGGGTGGAACTGCCAT GAACTGAGA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0262 a0002c0002t0025g0262	1	273	0.0037	408	c.-16 others(429): Show c.-163-10991_-163-10990insGGGAGGGGGTGGAACTGCCATGAA CTGAGATGGGGAAGGTGGAGGGGGAGCTGGTGGTGGGGAGGGGTGGAACT GCCATGAACTGAGATGGGGAAGGTGGAGGGGACGCTGGTGGTGGGGAGGG GTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGGCGCTGGTGGT GGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGGGC GCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTG GAGGGGGAGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGG GGAAGGTGGAGGGGACGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAAC TGAGATGGGGAAGGTGGAGGGGGCGCTGGTGGTG	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTAGCCTG others(401): Show CTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCT AGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGG CTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTAT GTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGT GTGTGTGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGG CTAGCCTGGCGCCTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCC TGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	11	0.0909	408	c.26 others(419): Show c.2690_*2691insTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTG TGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTG TGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGG TGCCCGTGTGTGTGTGTGTGTGGGGGGGCTAGCCTTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGGCTAGCCTGGCGCCTGTGTGTGTGTGTGTGTGTGTG TGTGTCTGGCTAGCCTGGCACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535880	G G	GGTCGGGG others(401): Show GGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTG CAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCA ATGAGTGCA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	302	0.0033	408	c.140 others(425): Show c.140+8143_140+8144insTGCACTCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCCCGACCCACCCTGCACTCATTGCCCCGGGAGG GATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCGAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRXN3_chr14_78165373_79873291	79257520	G G	GTGGTGGT others(401): Show GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTAATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTAATGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGG TGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0021 a0001c0004t0006g0021	1	10	0.1000	408	c.326 others(431): Show c.3263-209669_3263-209668insATGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAAT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTAATGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(401): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCACCCTC CCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCC CCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTT CCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCC TCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCC TTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0159 a0001c0001t0041g0159	1	206	0.0049	408	c.433 others(425): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGG AAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGG GGGAGGGGAGGGGAGGGGAAGGGGAGGGGGGGAGGGTGGGAGGGGAGGGG AGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(401): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCACCCTC CCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCC TCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCC CCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTT CCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCC TCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCC TTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0189 a0001c0001t0102g0189	1	206	0.0049	408	c.433 others(425): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGG AAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGG GGGAGGGGAGGGGAGGGGAAGGGGAGGGGGGGAGGGTGGGAGGGGAGGGG AGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCC others(401): Show ACCCCCCCACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA20752.hp2 HG01192.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0094 a0001c0001t0002g0096	2	14	0.1429	408	c.242 others(425): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCCCCACCTCCCTCCCGGACGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCC others(401): Show ACCCCCCCACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGG GGCTGACCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0109 a0001c0001t0019g0109	1	13	0.0769	408	c.242 others(425): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCCCACCTCCCTCCCGGACGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALLD_chr4_168492052_168933441	168793354	C C	CATATATA others(401): Show CATATATATGTGTGCATATATACACATATATATGTGTGCATATACACATA TATATGTGTGCATATATACACATATATATGTGTGCATATATACACATATA TATGTGTGCATATATACACATATATATGTGTGCATATATACACATATATA TGTGTGCATATATACACATATATATGTGTGCATATATACACATATATATG TGTGCATATATACACATATATATGTGTGCATATATACACATATATATGTG TGCATATATACACATATATATGTGTGCATATATACACATATATATGTGTG CATATATACACATATATATGTGTGCATATATACACATATATATGTGTGCA TATATACACATATATATGTGTGCATATATACACATATATATGTGTGCATA TATACACAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0046 a0002c0006t0007g0046	1	123	0.0081	408	c.196 others(429): Show c.1964+81437_1964+81438insATGTGTGCATATATACACATATAT ATGTGTGCATATACACATATATATGTGTGCATATATACACATATATATGT GTGCATATATACACATATATATGTGTGCATATATACACATATATATGTGT GCATATATACACATATATATGTGTGCATATATACACATATATATGTGTGC ATATATACACATATATATGTGTGCATATATACACATATATATGTGTGCAT ATATACACATATATATGTGTGCATATATACACATATATATGTGTGCATAT ATACACATATATATGTGTGCATATATACACATATATATGTGTGCATATAT ACACATATATATGTGTGCATATATACACATATATATGTGTGCATATATAC ACATATATATGTGTGCATATATACACATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PAM16_chr16_4335251_4356321	4344799	G G	GTGTGAGA others(401): Show GTGTGAGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGAC TGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGG GGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAG GAGGGGGTTCTGTGAGAGAAGGGGACTGTGTGAGAGGAGGGGGTTCCGTG AGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTC CGTGAGAGGAGGGGATTGTGTGAGGGGGGGGTTCCGTGAGAGGAGGGGGT TCCGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAGAGGAGG GGATTGTGTGAGGGGGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAGAGG AGGGGGTTC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	356	0.0028	408	c.4-1 others(421): Show c.4-1509_4-1508insGAACCCCCTCCTCTCACGGAACCCCCTCCTCT CACGGAACCCCCCCCCTCACACAATCCCCTCCTCTCACGGAACCCCCTCC TCTCACGGAACCCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCC CCCCTCACACAATCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAACC CCCTCCTCTCACAGAACCCCCTCCTCTCACGGAACCCCCTCCTCTCACAC AGTCCCCTTCTCTCACAGAACCCCCTCCTCTCACACAATCCCCTCCTCTC ACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCC TCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACAGAACCCC CTCCTCTCACAGAACCCCCTCTCACA	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(401): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATG TATTACATATATGTATTACATATATAACATGTATTACATATATGTAATAC ATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	122	0.0082	408	c.70 others(419): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATGTATTACATATATGTATTACATATATAACATGTATT ACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(401): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATG TATTACATATATGTAATACATATATAACATGTATTACATATATGTAATAC ATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18966.hp1 NA18952.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	123	0.0163	408	c.70 others(419): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATGTATTACATATATGTAATACATATATAACATGTATT ACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721656	A A	ATATATGT others(401): Show ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATTACGTAT ATGTAATACACATATAACATATATTACGTATATGTAATACACATATAACA TATATTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	278	0.0036	408	c.70 others(419): Show c.7094_*7095insTATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATTACGTATATGTAATACACATATAACATATATTACGTATATGT AATACACATATAACATATATTACG	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3176		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721656	A A	ATATATGT others(401): Show ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACGTATATGTATTACATATATAACATATATTACGTAT ATGTAATACACATATAACATATATTACGTATATGTAATACACATATAACA TATATTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0072 a0001c0001t0013g0072	1	278	0.0036	408	c.70 others(419): Show c.7094_*7095insTATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACGTATATGTATTACATATATA ACATATATTACGTATATGTAATACACATATAACATATATTACGTATATGT AATACACATATAACATATATTACG	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3176		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(401): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0020 a0001c0004t0001g0020	1	182	0.0055	408	c.-26 others(419): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(401): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	321	0.0031	408	c.-26 others(419): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(401): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGA CACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCC TCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACACCTCCCTCCCG GACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGA CGGGGCGGC	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA19090.hp2 HG02132.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0026 a0001c0001t0005 a0001c0001t0026	a0001c0001t0005g0025 a0001c0001t0026g0093 a0001c0001t0005g0025 a0001c0001t0026g0093	2	82	0.0244	408	c.633 others(425): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCC CGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGGC AGGGGGGCTGACCCCCCCCACACCTCCCTCCCGGACGGGGCGGCTGGCCG GGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(401): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGA CACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCC TCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGA CGGGGCGGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01069.hp2 others(20): Show HG00323.hp2 HG00639.hp1 HG01069.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01884.hp1 HG01981.hp1 HG02735.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03490.hp1 HG03516.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18993.hp2 NA19043.hp2 NA20805.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0006 a0009 a0010 a0012 a0021 a0024 a0027 a0028 a0032 a0039 a0040 a0047	a0001c0001 a0001c0004 a0001c0049 others(20): Show a0001c0001 a0001c0004 a0001c0049 a0001c0063 a0002c0009 a0002c0017 a0002c0084 a0003c0051 a0004c0035 a0006c0012 a0006c0067 a0009c0021 a0010c0007 a0012c0022 a0012c0092 a0021c0090 a0024c0048 a0027c0027 a0028c0088 a0032c0096 a0039c0050 a0040c0064 a0047c0075	a0001c0001t0002 a0001c0004t0007 a0001c0049t0013 others(20): Show a0001c0001t0002 a0001c0004t0007 a0001c0049t0013 a0001c0063t0003 a0002c0009t0007 a0002c0017t0008 a0002c0084t0011 a0003c0051t0013 a0004c0035t0047 a0006c0012t0006 a0006c0067t0001 a0009c0021t0011 a0010c0007t0058 a0012c0022t0016 a0012c0092t0050 a0021c0090t0001 a0024c0048t0055 a0027c0027t0057 a0028c0088t0001 a0032c0096t0039 a0039c0050t0015 a0040c0064t0001 a0047c0075t0004	a0001c0001t0002g0077 a0001c0004t0007g0036 a0001c0049t0013g0120 others(20): Show a0001c0001t0002g0077 a0001c0004t0007g0036 a0001c0049t0013g0120 a0001c0063t0003g0066 a0002c0009t0007g0037 a0002c0017t0008g0059 a0002c0084t0011g0092 a0003c0051t0013g0121 a0004c0035t0047g0123 a0006c0012t0006g0023 a0006c0067t0001g0058 a0009c0021t0011g0091 a0010c0007t0058g0012 a0012c0022t0016g0048 a0012c0092t0050g0082 a0021c0090t0001g0150 a0024c0048t0055g0138 a0027c0027t0057g0043 a0028c0088t0001g0110 a0032c0096t0039g0009 a0039c0050t0015g0116 a0040c0064t0001g0061 a0047c0075t0004g0080	23	103	0.2233	408	c.633 others(425): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCC CGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGGC AGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDXK_chr21_43714129_43767299	43743497	T T	TTGCACCC others(401): Show TTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCTCG CCTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCTC ACTTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCT CACTTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGACACC TCACTTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGACAC CTCACTTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACA CCTCGCCTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGAC ACCTCACTTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGA CACCTCGCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG03490.hp2 others(1): Show HG01168.hp1 HG01169.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0002 a0001c0001t0024	a0001c0001t0002g0007 a0001c0001t0002g0129 a0001c0001t0002g0204 others(1): Show a0001c0001t0002g0007 a0001c0001t0002g0129 a0001c0001t0002g0204 a0001c0001t0024g0007	4	241	0.0166	408	c.248 others(423): Show c.248-155_248-154insAGCCCCTGAGCACTGTGGGGACACCTCACT TGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCTCAC TTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGACACCTCA CTTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGACACCTC ACTTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACACCT CGCCTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGACACC TCACTTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACAC CTCGCCTGCACCCACCTCCCTCCCCCCAGCCCCTGAGCACTGTGGGGACA CCTCGCCTGCACCCACCTCCCTCCCCCC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31906170	T T	TGCCACCA others(401): Show TGCCACCACGCCTGGCTAATTTTTTTTTTTTTTGTATTTTTAGTAGAGAT GGGGTTTCACCATGTTAGCCAGAATGGGCTCAATCTCCATTGATTACAGG GATTACAGGCATAAGCCACCACGCCCAGCCTTATTTTATTTTTTTGAGAT GGAGTCTCACTCTGTCACCCAGGCTGGAGTGGAGTGGTGTGTTCTTGGCT CACTGCAACTTCTGCCTCCCAGGTTCAAGCTATTCTCCAGCCTCAGACTC CCAAGTAGCCGGGATTACAGGTACATGCCACCACGCCCAGTTAATTTTTG TATTTTTAGTAGAGATGGGGTTTTACTATGTTGGCCAAGTTGGTCCAAAC TCCTGAACTCAAGTGACAACCCGCCTTGGGCTCCCAAAGTGCTGGGATTA CAGGCATGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02922.hp2 HG03098.hp2 others(2): Show HG01358.hp2 HG02922.hp2 HG03098.hp2 HG03209.hp1 HG04184.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0028	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0005c0009 a0028c0054	a0001c0001t0017 a0002c0002t0001 a0003c0004t0011 others(2): Show a0001c0001t0017 a0002c0002t0001 a0003c0004t0011 a0005c0009t0013 a0028c0054t0009	a0001c0001t0017g0069 a0002c0002t0001g0165 a0003c0004t0011g0090 others(2): Show a0001c0001t0017g0069 a0002c0002t0001g0165 a0003c0004t0011g0090 a0005c0009t0013g0058 a0028c0054t0009g0039	5	94	0.0532	408	c.477 others(427): Show c.477-76977_477-76976insGCCTGGCTAATTTTTTTTTTTTTTGT ATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGAATGGGCTCAATC TCCATTGATTACAGGGATTACAGGCATAAGCCACCACGCCCAGCCTTATT TTATTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGGAGT GGTGTGTTCTTGGCTCACTGCAACTTCTGCCTCCCAGGTTCAAGCTATTC TCCAGCCTCAGACTCCCAAGTAGCCGGGATTACAGGTACATGCCACCACG CCCAGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACTATGTTGGC CAAGTTGGTCCAAACTCCTGAACTCAAGTGACAACCCGCCTTGGGCTCCC AAAGTGCTGGGATTACAGGCATGAGCCACCAC	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PERM1_chr1_970198_987093	977309	T T	TCCCCCCG others(401): Show TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	404	0.0025	408	c.215 others(425): Show c.2150-686_2150-685insGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAG TGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTT CCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGGA GTGGGAGGCGGTTCCCGGGGTTGCGGGGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PGC_chr6_41731711_41752397	41738241	T T	TATATATG others(401): Show TATATATGCATATATATATGCATATATATATGCATATATATACGTATATA TATGCATATATATATGCATATATATGCATATATATACGTATATATATGCA TATATATATGCATATATATATGCATATATATACGTATATATATGCATATA TATGCATATATATACGTATATATATACATATATATGCATATATATATACA TATATATATGCATATATATGCATATATATATACGTATATATATGCATATA TATATGCATATATATACGTATATATATGCATATATATATGCATATATATA CGTATATATATATATGCATATATATACGTATATATATGCATATATATATG CATATATATACGTATATATATGCATATATATATGCATATATATATACATA TATATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	459	0.0022	408	c.916 others(423): Show c.916-414_916-413insGTATATATATATGTATATATATATGCATAT ATATATGCATATATATACGTATATATATGCATATATATATGCATATATAT ACGTATATATATGCATATATATATATACGTATATATATGCATATATATAT GCATATATATACGTATATATATGCATATATATATGCATATATATACGTAT ATATATATGCATATATATGCATATATATATGTATATATATATGCATATAT ATGTATATATATACGTATATATATGCATATATATGCATATATATACGTAT ATATATGCATATATATATGCATATATATATGCATATATATACGTATATAT ATGCATATATATGCATATATATATGCATATATATACGTATATATATGCAT ATATATATGCATATATATATGCATATAT	PGC	ENSG00000096088.16	transcript	ENST00000373025.7	protein_coding	7/8			chr6	TogoVar
PHKA1_chrX_72573814_72719306	72682077	G G	GGGGGGGT others(401): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCAAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCG CCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	230	0.0043	408	c.537 others(425): Show c.537+2420_537+2421insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTTGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72682077	G G	GGGGGGGT others(401): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGATTGGGGGGGGGGTCAGCCCCCCC GCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTGG GAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	2	231	0.0087	408	c.537 others(425): Show c.537+2420_537+2421insACCTCCCTCCCAGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCC CCAATCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTAGCCTG others(401): Show CTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCT AGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGG CTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTAT GTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGT GTGTGTGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGG CTAGCCTGGCGCCTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCC TGGCACCCG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0016 a0001c0008t0016	a0001c0008t0016g0314 a0001c0008t0016g0314	1	11	0.0909	408	c.-10 others(425): Show c.-10+1014_-10+1015insAGCCTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGT GTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGC CCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAG CCTGGTGCCCGTGTGTGTGTGTGTGTGGGGGGGCTAGCCTTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGGCTAGCCTGGCGCCTGTGTGTGTGTGTGTGT GTGTGTGTGTCTGGCTAGCCTGGCACCCGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLEKHN1_chr1_961482_980865	977476	C C	CAACCCCG others(401): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0004	1	245	0.0041	408	c.29 others(419): Show c.2901_*2902insAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAAC CGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGC AACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCC CACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1612		chr1	TogoVar
PLPPR1_chr9_101023727_101330135	101120938	T T	TTAAATAG others(401): Show TTAAATAGCATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTG CAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CGCGCCCGGCTAATTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	202	0.0050	408	c.-45 others(427): Show c.-45-64497_-45-64496insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTTTTTTTTTTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCTAAATAGCATTTTCT	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRKCA_chr17_66297613_66815743	66798891	T T	TGATGGTG others(401): Show TGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGACGGTGGTGACGGTGGTG ACGGTGGTGACGGTGGTGACGGTGGTGGTGGTGGTGACGGTGGTGGTGGT GGTGACGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0148 a0001c0001t0099g0148	1	174	0.0057	408	c.185 others(427): Show c.1855-4981_1855-4980insATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGACGGTGGTGACGGTGGTGACGGTGGTGACGGTGGTGACGGTGGTGG TGGTGGTGACGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTG ACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGG TGATGGTGGTGGTGGTGGTGGTGGTGGTGACG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2124101	C C	CTATAGTT others(401): Show CTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTA GGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGT GGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTC ACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAG CATCATGGT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19002.hp1 NA19055.hp2 NA18970.hp1 NA19002.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0252 a0001c0001t0001g0272 a0001c0001t0001g0064 a0001c0001t0001g0252 a0001c0001t0001g0272	3	161	0.0186	408	c.335 others(427): Show c.335-11161_335-11160insTATAGTTGGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGT AGTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGAT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTA GTTAGGGTCACAGCGATAGTTAGCATCATGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(401): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAG TCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACT GCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAG TAGCTTGTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCC TGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAG CGTGAGCCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTC ACATATTAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	20	0.0500	408	c.479 others(427): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT TTTTTTTTTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAA TGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATT CTCCTGCTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATG CCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGG CCAGGCTGGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCC CAAAGTGTTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCA TATTTATATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(401): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGC GGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGG CGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGATG GCGGGGACAGGGTGAGCACACAGTCCGGGTCCCCGCTGTAAGGACCAGGT GGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGG TGGCGGGGA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	166	0.0060	408	c.405 others(425): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACG TCCCCGCTGTAAGGACCAGATGGCGGGGACAGGGTGAGCACACAGTCCGG GTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5			chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429889	A A	AGGTGGCG others(401): Show AGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGAC CAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGA CCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGG ACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAG GACCAGATGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAA GGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTA AGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGT AAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTG TAAGGACCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03486.hp1 HG02717.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0039 a0001c0001t0017 a0001c0001t0039	a0001c0001t0017g0022 a0001c0001t0039g0043 a0001c0001t0017g0022 a0001c0001t0039g0043	2	171	0.0117	408	c.405 others(425): Show c.405-1028_405-1027insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACGTC CCCGCTGTAAGGACCAGATGGCGGGGACAGGGTGAGCGCACAGTCCGGGT CCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGG TCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGG GTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCG GGTCCCCGCTGTAAGGACCCGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PWWP2B_chr10_132392200_132422859	132392560	A A	AATGGTGA others(401): Show AATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGA TGGTGATGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGATGGTG GTGGTGGTGATAACGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGG TGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATAATGGTGATG GTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGAT GATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGA TGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATG ATGATGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0009 a0002c0003t0001g0009	1	316	0.0032	408	c.-46 others(419): Show c.-4667_-4666insATGGTGATGATGGTGATGGTGATGATGGTGGTGG TGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGATGGTGATG GTGATGATGATGGTGGTGGTGGTGATAACGGTGATGGTGATGGTGGTGGT GGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGA TGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATG GTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGAT GATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGG TGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATG GGGGTGGTGGTAATGATGATGGTG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4639		chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132392560	A A	AATGGTGA others(401): Show AATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGA TGGTGATGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGATGGTG GTGGTGGTGATAACGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGG TGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATG GTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGAT GATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGA TGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATG ATGATGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01175.hp1 HG01261.hp1 others(21): Show HG00673.hp1 HG01175.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG02040.hp2 HG02080.hp1 HG03492.hp1 NA18950.hp1 NA18951.hp2 NA18984.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19085.hp1 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0002c0003t0001 a0003c0004t0001 a0001c0001t0001 a0002c0003t0001 a0003c0004t0001	a0001c0001t0001g0002 a0002c0003t0001g0005 a0002c0003t0001g0008 others(10): Show a0001c0001t0001g0002 a0002c0003t0001g0005 a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0029 a0002c0003t0001g0165 a0002c0003t0001g0166 a0002c0003t0001g0167 a0003c0004t0001g0007 a0003c0004t0001g0049 a0003c0004t0001g0051 a0003c0004t0001g0052 a0003c0004t0001g0198	24	339	0.0708	408	c.-46 others(419): Show c.-4667_-4666insATGGTGATGATGGTGATGGTGATGATGGTGGTGG TGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGATGGTGATG GTGATGATGATGGTGGTGGTGGTGATAACGGTGATGGTGATGGTGGTGGT GGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGA TGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGAT GATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGG TGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATG GGGGTGGTGGTAATGATGATGGTG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4639		chr10	TogoVar
PXDNL_chr8_51314577_51814445	51696870	T T	TACACACA others(401): Show TACACACAGGTCCACACACATACACAGGCCCACACACATACACACACAGG TCCACGCACATCCACACACACCGGTCCACGCACATCCACACACAGGTCCA CACACATACACACACATACGTCCACACACATCCACACACACACACACACA GGTCCACACACATCCACACACAGGCCCACACACATCCACACACACAGGTC CACACATATCCACACACACAGGTCCACACATATACACATACACAGTTCCA CACACAACCACACACAGGTCCACACACATCCACATACAGGTCCATGCACA TACACACACAGGTCCACACACATACACATACACAGTTCCACACACATCCA CACACAAGTCCACACACATCCACACGCACGTCCACGCATCCACACACAGG TCCACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02109.hp1 HG02258.hp2 others(12): Show HG01192.hp2 HG02109.hp1 HG02258.hp2 HG02630.hp1 HG02717.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0009 a0012 a0025 a0028 a0033	a0001c0001 a0001c0011 a0002c0002 others(8): Show a0001c0001 a0001c0011 a0002c0002 a0003c0005 a0004c0004 a0006c0024 a0009c0008 a0012c0014 a0025c0043 a0028c0026 a0033c0035	a0001c0001t0002 a0001c0001t0003 a0001c0011t0003 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0011t0003 a0002c0002t0003 a0002c0002t0004 a0003c0005t0003 a0004c0004t0003 a0006c0024t0003 a0009c0008t0003 a0012c0014t0003 a0025c0043t0003 a0028c0026t0003 a0033c0035t0003	a0001c0001t0002g0110 a0001c0001t0003g0013 a0001c0011t0003g0008 others(12): Show a0001c0001t0002g0110 a0001c0001t0003g0013 a0001c0011t0003g0008 a0002c0002t0003g0016 a0002c0002t0003g0017 a0002c0002t0004g0015 a0003c0005t0003g0006 a0003c0005t0003g0010 a0004c0004t0003g0001 a0006c0024t0003g0009 a0009c0008t0003g0007 a0012c0014t0003g0018 a0025c0043t0003g0005 a0028c0026t0003g0002 a0033c0035t0003g0011	15	37	0.4054	408	c.165 others(427): Show c.165-42111_165-42110insGTGTGTGGACCTGTGTGTGGATGCGT GGACGTGCGTGTGGATGTGTGTGGACTTGTGTGTGGATGTGTGTGGAACT GTGTATGTGTATGTGTGTGGACCTGTGTGTGTATGTGCATGGACCTGTAT GTGGATGTGTGTGGACCTGTGTGTGGTTGTGTGTGGAACTGTGTATGTGT ATATGTGTGGACCTGTGTGTGTGGATATGTGTGGACCTGTGTGTGTGGAT GTGTGTGGGCCTGTGTGTGGATGTGTGTGGACCTGTGTGTGTGTGTGTGT GGATGTGTGTGGACGTATGTGTGTGTATGTGTGTGGACCTGTGTGTGGAT GTGCGTGGACCGGTGTGTGTGGATGTGCGTGGACCTGTGTGTGTATGTGT GTGGGCCTGTGTATGTGTGTGGACCTGTGTGT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
RAB11FIP3_chr16_420649_528011	468230	G G	GGGAGGAG others(401): Show GGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGC TGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGG GGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTC AGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCATCAGGGAGGAG GTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTC CTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGG CGTCAGGGA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0268 a0001c0001t0003g0268	1	202	0.0050	408	c.809 others(425): Show c.809-3058_809-3057insATGCTGGGACGTCAGGGAGGAGGTCCTT GGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGA GGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGA GGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGT CCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGG GCATCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCA GGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGG AGGAGGTGCAGGGGCGTCAGGGAGGAGGAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468230	G G	GGGAGGAG others(401): Show GGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGC TGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGG GGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTC AGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTC CTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGG CGTCAGGGA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG03704.hp2 HG01258.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0070 a0001c0002t0005g0074 a0001c0002t0005g0070 a0001c0002t0005g0074	2	203	0.0099	408	c.809 others(425): Show c.809-3058_809-3057insATGCTGGGACGTCAGGGAGGAGGTCCTT GGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGA GGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGA GGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGT CCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGG GCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCA GGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGG AGGAGGTGCAGGGGCGTCAGGGAGGAGGAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RGS12_chr4_3288021_3444913	3341539	G G	GGGGGAGG others(401): Show GGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGAGGGTGGAGA GATGGGGGTATGGCGGGGAGGGGACAAGGGTGGAGAGATGGGGGTGTGGG GGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAG ATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGG AGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGG TGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGTTT GGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGG GGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGA TGGGGGTGT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0008 a0004c0008t0001g0008	1	298	0.0034	408	c.188 others(427): Show c.1882-1366_1882-1365insGGGAGGGAGGGTGGAGAGATGGGGGT ATGGCGGGGAGGGGACAAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGAG GGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTG TGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAG AGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGG AGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGTTTGGAGAGATG AGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGG GTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGT GGGGAGGGAGGGTGGAGAGATGGGGGTGTGGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(401): Show AATATATATATTTAAATATATATATTTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATATTAATATATATTTAAAATATATATTTAAAT ATATATTAATATATATATTTAAAGATATATATTAAATTATATATATTAAA ATATGTATATTAATATATATTTAAATTATATAATTTAAATATACATATTT AAAAATATATATATTTAAATATATATATTTTTAATATATATATTTTTAAA TATATATATATTTATATATATATTTTTAAATATATATATATATTTATATA TATATTTTTAAATATATATATATATTTATATATATATTTTTAAATATATA TATATATTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA19067.hp1 NA19087.hp2 others(1): Show HG04184.hp2 NA19067.hp1 NA19087.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0030 a0001c0002t0004g0134 a0001c0002t0001g0030 a0001c0002t0004g0134	4	9	0.4444	408	c.182 others(425): Show c.182-2703_182-2702insTATATATATTTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATATTAATATATATTTAAAATATATAT TTAAATATATATTAATATATATATTTAAAGATATATATTAAATTATATAT ATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATATAC ATATTTAAAAATATATATATTTAAATATATATATTTTTAATATATATATT TTTAAATATATATATATTTATATATATATTTTTAAATATATATATATATT TATATATATATTTTTAAATATATATATATATTTATATATATATTTTTAAA TATATATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF17_chr13_24759169_24884921	24882005	G G	GATACATC others(401): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0017 a0017	a0017c0023 a0017c0023	a0017c0023t0001 a0017c0023t0001	a0017c0023t0001g0180 a0017c0023t0001g0180	1	355	0.0028	408	c.22 others(419): Show c.2279_*2280insATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2085		chr13	TogoVar
RSAD1_chr17_50473860_50490974	50476102	C C	CCAGCGCG others(401): Show CCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGC AGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCCCAG CGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCG CGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCGCAGCGCG CCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCC TGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTG CCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCC CCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCC CTTACCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 NA18522.hp2 HG02970.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	2	346	0.0058	408	c.-27 others(419): Show c.-2783_-2782insCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCT GCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGC CCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCC CCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCC TTACCTCGCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTT ACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTAC CTCGCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCT CGCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCG CAGCGCGCCTGCCCCCTTACCTCG	RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding		2757		chr17	TogoVar
RTEL1_chr20_63653312_63701245	63693503	C C	CTCCACCA others(401): Show CTCCACCACCTCCACCTCCACCACCTCCACCTCCACCACCTCCACCTCCA CCTCCACCTCCACCACCTCCACCACCACCACCTCCACCTCCACCACCACC ACCTCCACCTCCACCACCTCCACCTTCACCACCACCACCTCCATCACCAC CACCTCCACCACCTCCACCTCCACCTCCACCACCTCCACCACCACCACCT CCACCACCACCTCCACCACCTCCACCTCCACCACCTCCACCTTCACCACC ACCACCTCCACCTTCACCACCACCACCACCACCTCCACCACCTCCACCTC CACCACCACCACCACCTCCACCTTCACCACCACCACCACCACCTCCACCA CCTCCACCACCACCTCTACCTCCACCTCCACCACCTCCACCACCACCTCC ACCACCTCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0026 a0011c0008t0001g0026	1	58	0.0172	408	c.299 others(425): Show c.2992+220_2992+221insTCCACCACCTCCACCTCCACCACCTCCA CCTCCACCACCTCCACCTCCACCTCCACCTCCACCACCTCCACCACCACC ACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCTCCACCTTCAC CACCACCACCTCCATCACCACCACCTCCACCACCTCCACCTCCACCTCCA CCACCTCCACCACCACCACCTCCACCACCACCTCCACCACCTCCACCTCC ACCACCTCCACCTTCACCACCACCACCTCCACCTTCACCACCACCACCAC CACCTCCACCACCTCCACCTCCACCACCACCACCACCTCCACCTTCACCA CCACCACCACCACCTCCACCACCTCCACCACCACCTCTACCTCCACCTCC ACCACCTCCACCACCACCTCCACCACCTCT	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34			chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25808836	G G	GAGGCGGG others(401): Show GAGGCGGGCAGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACAC GGTGAAACCCCCGTCTCTACTAAAAAATAGAAAAAATTAGCTGGGCGTGG TGGCGGGCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATC ACGAGGTCAGGAAATCGAGAACACCCTGGCTAACACGGTGAAACCCCTAT CTCTACTAAAAAATAGAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGT AATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAAA TCGAGAACACCCTGGCTAACACGGTGAAACCCCTATCTCTACTAAAAAAT AGAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCACTTT GGGAGGCCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0024 a0001c0010t0024	a0001c0010t0024g0309 a0001c0010t0024g0309	1	21	0.0476	408	c.156 others(427): Show c.1565-4085_1565-4084insTGGCCTCCCAAAGTGCTGGGACTACA GGCGCCCGCCACCACGCCCAGCTAATTTTTTCTATTTTTTAGTAGAGATA GGGGTTTCACCGTGTTAGCCAGGGTGTTCTCGATTTCCTGACCTCGTGAT CTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGCCCGCCACCA CGCCCAGCTAATTTTTTCTATTTTTTAGTAGAGATAGGGGTTTCACCGTG TTAGCCAGGGTGTTCTCGATTTCCTGACCTCGTGATCTGCCCGCCTTGGC CTCCCAAAGTGCTGGGATTACAGGCGCCCGCCACCACGCCCAGCTAATTT TTTCTATTTTTTAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATTTCCTGACCTCGTGATCTGCCCGCCT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	9/23			chr4	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(401): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG AGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGA GGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGA GCGAGGGGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	40	0.0250	408	c.-30 others(427): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCT CGCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCC CCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCG CTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar

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