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
PTPRT_chr20_42067756_43194906	42993447	T T	TATATATA others(384): Show TATATATACACACACATATATATGTGTATATATATATACATACACATATA TATGTGTATGTATATATATATACACATATATATGTGTGTGTATATATATA TACACATATATATGTGTGTGTATATATATATACACATATATATAGTGTGT GTATATATATACATATATTTGTGTATATATATACATATATGTGTGTGTAT ATATATACATATATGTGTGTGTGTATATATACATATGTGTGTGTATATAT ACATATATATGTGTGTGTATATATACACATATATGTGTGTGTATATATAC ATATATATGTGTGTGTATATATACATATATGTGTATATATACACACATAT GTGTATATATACACACACATATATGTGTATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18906.hp2 HG01243.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0003c0024 a0001c0008 a0003c0024	a0001c0008t0001 a0003c0024t0005 a0001c0008t0001 a0003c0024t0005	a0001c0008t0001g0060 a0003c0024t0005g0032 a0001c0008t0001g0060 a0003c0024t0005g0032	2	53	0.0377	391	c.89- others(410): Show c.89-107516_89-107515insGTGTGTGTATATATACACATATATGT GTGTGTATATATACACATATGTGTGTATATATACACATATATGTATATAT ACACACACATATATATGTATATATACACACACATATATGTGTATATATAC ACACACATATATATGTATATATACACACACATATGTATATATACACACAC ACATATATGTATATATATACACACACATATATGTATATATATACACAAAT ATATGTATATATATACACACACTATATATATGTGTATATATATATACACA CACATATATATGTGTATATATATATACACACACATATATATGTGTATATA TATATACATACACATATATATGTGTATGTATATATATATACACATATATA TGTGTGTGTATATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42993447	T T	TATATATA others(384): Show TATATATACACACATATATATATGTGTATATATATATACATACACATATA TATGTGTATGTATATATATATACACATATATATGTGTGTGTATATATATA TACACATATATATGTGTGTGTATATATATATACACATATATATAGTGTGT GTATATATATACATATATTTGTGTATATATATACATATATGTGTGTGTAT ATATATACATATATGTGTGTGTGTATATATACATATGTGTGTGTATATAT ACATATATATGTGTGTGTATATATACACATATATGTGTGTGTATATATAC ATATATGTGTATATATATACACATATGTGTATATATACACACACATATAT GTGTATATATACACACACATATATGTGTATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0008 a0009c0019t0008	a0009c0019t0008g0050 a0009c0019t0008g0050	1	52	0.0192	391	c.89- others(410): Show c.89-107516_89-107515insGTGTGTGTATATATACACATATATGT GTGTGTATATATACACATATATGTGTGTGTATATATACACATATGTGTAT ATATATACACATATATGTATATATACACACACATATATGTGTATATATAC ACACACATATATATGTATATATACACACACATATGTATATATACACACAC ACATATATGTATATATATACACACACATATATGTATATATATACACAAAT ATATGTATATATATACACACACTATATATATGTGTATATATATATACACA CACATATATATGTGTATATATATATACACACACATATATATGTGTATATA TATATACATACACATATATATGTGTATGTATATATATATACACATATATA TATGTGTGTATATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42993451	T T	TATACACA others(384): Show TATACACACATATATATACACATATATGTGTGTGTGTATATATATATACA CATATATATGTGTGTGTATATATATATACACATATATATAGTGTGTGTAT ATATATACATATATTTGTGTATATATATACATATATGTGTGTGTATATAT ATACATATATGTGTGTGTGTATATATACATATGTGTGTGTATATATACAT ATATATGTGTGTGTATATATACACATATATGTGTGTGTATATATACATAT ATGTGTATATATATACACATATATGTATATATACACACACATATATGTGT ATATATACACACACATATATGTGTATATATACACACACATATATGTGTAT ATATACACACACATATATGTATGTGTGTGTATATATATACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02965.hp1 HG01243.hp2 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0023 a0001c0003t0002 a0001c0002t0023 a0001c0003t0002	a0001c0002t0023g0044 a0001c0003t0002g0043 a0001c0002t0023g0044 a0001c0003t0002g0043	2	56	0.0357	391	c.89- others(410): Show c.89-107520_89-107519insGTGTATATATATACACACACATACAT ATATGTGTGTGTATATATACACATATATGTGTGTGTATATATACACATAT ATGTGTGTGTATATATACACATATATGTGTGTGTATATATACATATATGT GTATATATATACACATATATGTATATATACACACACATATATGTGTATAT ATACACACACATATATATGTATATATACACACACATATGTATATATACAC ACACACATATATGTATATATATACACACACATATATGTATATATATACAC AAATATATGTATATATATACACACACTATATATATGTGTATATATATATA CACACACATATATATGTGTATATATATATACACACACACATATATGTGTA TATATATGTGTGTAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RASA3_chr13_113972783_114137623	114044482	G G	GCACCCCC others(384): Show GCACCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTC GCTGAGCTCCCCCCCACGCCTCACTCGCTGAGCTCCCCCCCCCGCCTCAC TCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCT CACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCCGC CTCACTCGCTGAGCTCCCCCCCCCGCCTCACTCGCTGAGCTCCCCCCCCC GCCTCACTCGCTGAGCTCCCCCCCCCGCCTCACTCGCTGAGCTCCCCCCC CCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCC CGCCCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0067	1	30	0.0333	391	c.278 others(408): Show c.278-3389_278-3388insGGGCGGGGGGGCTCAGCGAGTGAGGCGG GGCGGGGGGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTC AGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGGGGGGAGC TCAGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGGGGGGA GCTCAGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGG GGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCG GGGGGGCTCAGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGGCGTG GGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCG GGGCGGGGGGGTG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGGA others(384): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGGTGGGGAGTGA GGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGG TGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCG GCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGA GGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGG TGGGGAGTGAGGAGGGGTCGGCGGTGGGCGGTGGGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0116 a0005c0010t0001g0116	1	333	0.0030	391	c.205 others(406): Show c.2059-80_2059-79insCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCCCACCGCCCACCGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCCCACGCCGACCCCTCCTCACTCCCCA CCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCC TCACTCCCCAC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RPH3AL_chr17_207389_357807	304934	A A	AGGGGGAC others(384): Show AGGGGGACAGGGCGAGAAGGGGACAGGGCGGGAGGGGGACAGGGCGAGAG GGGGACAGGGCGGGAGGGGGACAGGGCGAGAGAGGGGACAGGGCGAGAGG GGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGAGGG GACAGGGCGAGAGGGGGACAGGGCGAGAGAGGGGACAGGGCGGGAGGGGG ACAGGGCGAGAGGGGGACAGGGCGAGAGAGGGGACAGGGCGAGAGGGGGA CAGGGCGAGAGAGGGGACAGGGCGAGAGAGGGGACAGGGCGGGAGGGGGA CAGGGCGGGAGGGGGACAGGGCGGGAGGGGACAGGGCGAGAGGGGGACAG GGCGGGAGGGGGACAGGGCGAGAGAGGGGACAGGGCGAGAGG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	132	0.0076	391	c.351 others(410): Show c.351+14485_351+14486insCCTCTCGCCCTGTCCCCTCTCTCGCC CTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCCCGCCCTG TCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCTCGCCCTGT CCCCTCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCTCGCCCTGT CCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCTCGCCCTGTC CCCCTCTCGCCCTGTCCCCTCTCTCGCCCTGTCCCCCTCTCGCCCTGTCC CCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCTCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCTT CTCGCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963375	T T	TCCCTGTG others(384): Show TCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCC TGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTG CGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGC CCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTC ACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCC CGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTC CCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCT CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0004 a0001c0034t0004	a0001c0034t0004g0131 a0001c0034t0004g0131	1	187	0.0053	391	c.393 others(408): Show c.3939+368_3939+369insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGG CCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963403	G G	GTGCGGCC others(384): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCC CTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG TGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0013 a0001c0013t0013	a0001c0013t0013g0064 a0001c0013t0013g0064	1	162	0.0062	391	c.393 others(408): Show c.3939+368_3939+369insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGG CCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCT CACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963426	C C	CTGCGGCC others(384): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTC TGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0192 a0001c0012t0003g0192	1	74	0.0135	391	c.393 others(408): Show c.3939+391_3939+392insGTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCT GCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGG CCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963449	C C	CTGCGGCC others(384): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTC TGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA20300.hp2 HG02145.hp2 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0047 a0005c0092 a0001c0047 a0005c0092	a0001c0047t0012 a0005c0092t0012 a0001c0047t0012 a0005c0092t0012	a0001c0047t0012g0150 a0005c0092t0012g0163 a0001c0047t0012g0150 a0005c0092t0012g0163	2	144	0.0139	391	c.393 others(408): Show c.3939+437_3939+438insCTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGG CCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963541	C C	CTGCGGCC others(384): Show CTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCC CCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTC TGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0023 a0001c0004t0033g0023	1	135	0.0074	391	c.393 others(408): Show c.3939+552_3939+553insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCT GCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGG CCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSPH1_chr21_42467486_42501224	42477224	T T	TCCACAGC others(384): Show TCCACAGCCCGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCC GGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCC CCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGTGCCCACACCCTCT GACCCCTCCACTCACAGCCCGGGGTGCCCCACACCTCTGCCCCCTCCACC CCACAGCCCGGGATGCCCCACACCCTCTGCCCCTCCACTCCACAGCCCGG GGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCC ACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCACACCCTCTG TCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCAC	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	179	0.0056	391	c.727 others(404): Show c.727+66_727+67insGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCG GGCTGTGGGACAGAGGGTGTGGGCATCCCCGGGCTGTGGGGTGGAGGGGT CAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTG TGGGGCATCCCCGGGCTGTGGAGTGGAGGGGCAGAGGGTGTGGGGCATCC CGGGCTGTGGGGTGGAGGGGGCAGAGGTGTGGGGCACCCCGGGCTGTGAG TGGAGGGGTCAGAGGGTGTGGGCACCCCGGGCTGTGGGGTGGAGGGGGCA GAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTG GGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCC GGGCTGTGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(384): Show TTGTTTATAAATACTGTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	255	0.0039	391	c.632 others(408): Show c.632+8244_632+8245insGTTTATAAATACTGTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430269	A A	AATACAGT others(384): Show AATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTT ATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATAC AGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTA TAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTAT TTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAAT ACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATT TATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGT ATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0319 a0001c0001t0003g0319	1	268	0.0037	391	c.632 others(408): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCNN1A_chr12_6341847_6380563	6369294	T T	TCACCTCC others(384): Show TCACCTCCCTCCTGCCACCCTACGCACCTCCCTCCTGCCACCCTACGCAC CTCCCTCCTGCCACCCTACGCACCTCCCTCCTGCCACCCTACGCGCCTCC CTCCTGCCACCCTACGCACCTCCCTCCTGCCACCCTACGCACCTCCCTCC TGCCACCCTACGCGCCTCCCTCCTGCCACCCTACGCACCTCCCTCCTGCC ACCCTACGCACCTCCCTCCTGCCACCCTACGCACCTCCCTCCTGCCACCC TACGCACCTCCCTCCTGCCACCCTACGCACCTCCCTCCTGCCACCCTACG CACCTCCCTCCTGCCACCCTACGCACCTCCCTCCTGCCACCCTACGCACC TCCCTCCTGCCACCCTACGCACCTCCCTCCTGCCACCCTACG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	392	0.0026	391	c.416 others(408): Show c.416+5073_416+5074insCGTAGGGTGGCAGGAGGGAGGTGCGTAG GGTGGCAGGAGGGAGGTGCGTAGGGTGGCAGGAGGGAGGTGCGTAGGGTG GCAGGAGGGAGGTGCGTAGGGTGGCAGGAGGGAGGTGCGTAGGGTGGCAG GAGGGAGGTGCGTAGGGTGGCAGGAGGGAGGTGCGTAGGGTGGCAGGAGG GAGGTGCGTAGGGTGGCAGGAGGGAGGTGCGTAGGGTGGCAGGAGGGAGG CGCGTAGGGTGGCAGGAGGGAGGTGCGTAGGGTGGCAGGAGGGAGGTGCG TAGGGTGGCAGGAGGGAGGCGCGTAGGGTGGCAGGAGGGAGGTGCGTAGG GTGGCAGGAGGGAGGTGCGTAGGGTGGCAGGAGGGAGGTGCGTAGGGTGG CAGGAGGGAGGTG	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	2/12			chr12	TogoVar
SIGIRR_chr11_400716_419999	401975	C C	CGCTCACC others(384): Show CGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCT CACACCCGACCCGCTCACACCCGACCGGCTCACCCCCGACCCGCTCACCC CCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGAC CCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCGACCC GCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTC ACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACAC CCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGGC CCCGCTCACACCCGCCCCGCTCACCCGGGACCCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0067 a0005c0009t0001g0067	1	203	0.0049	391	c.39 others(402): Show c.3920_*3921insTGTGAGCGGGGGTCCCGGGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAG CGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGG GCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGG GGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGTCCGGTG TGAGCGGGGTCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGCTGGGGTGAG CGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCCGGTCGGGTGTGAGCGGGT CGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGG GGTGAGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3740		chr11	TogoVar
SKI_chr1_2223319_2315213	2282204	C C	CGCCCGAG others(384): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGAC AGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT GGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTT CAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAG AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0154 a0001c0001t0012g0154	1	264	0.0038	391	c.970 others(410): Show c.970-20771_970-20770insCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGA CAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGG TGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC AGAGAGAGAGATGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A6_chr15_34224784_34342781	34310174	A A	AGTGTGTG others(384): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCCCTGTGTCCAGGCTGGTG AACTCCTGGGCTCAAGTGTGTGTGTGTGTCCCCGTATCCAGGCTGGTGTT GAACTCCTGGGCTCAAGTGTGTGTGTGTGTGTGTCCCCGTGTCCAGGCTG GTGTTGAACTCCTGGGCTCAAGTGTGTGTGTGTGTCCCTGTGTCCAGGCT GGTGTTGAACTCCTGGGCTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTCCCCATGTCCAGGCTGGTGTTGAACTCCTGGGCTCAAGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGTGTGTGTCCCCG TGGCCAGGCTGGTGTTGAACTCCTGGGCTCAAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	105	0.0095	391	c.271 others(410): Show c.271+26235_271+26236insACACACACACTTGAGCCCAGGAGTTC AACACCAGCCTGGCCACGGGGACACACACATACATACACACACACACACA CACACACACACACACACACACACACACTTGAGCCCAGGAGTTCAACACCA GCCTGGACATGGGGACACACACACACACACACACACACACACACACGAGC CCAGGAGTTCAACACCAGCCTGGACACAGGGACACACACACACACTTGAG CCCAGGAGTTCAACACCAGCCTGGACACGGGGACACACACACACACACAC TTGAGCCCAGGAGTTCAACACCAGCCTGGATACGGGGACACACACACACA CTTGAGCCCAGGAGTTCACCAGCCTGGACACAGGGACACACACACACACA CACACACACACACAC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1072941	G G	GAGCCCCC others(384): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGTGAGCCCC CAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGG GCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACAC TTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCAC ACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCA GCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGT GAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0025 a0001c0010t0005g0025	1	97	0.0103	391	c.224 others(408): Show c.2241+691_2241+692insGCATAAGTGTGATGCCGTGTGCTGGGGG CTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTG GGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGGCTCAC TGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTG CATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGT GATGCCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGCTGCATAAGTG TGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCG TGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(384): Show CGGGGGGCGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGAG GCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGC GGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGA GGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGGCGG GAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGG GGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAAGGAGGCGGGGGGG GCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	25	0.0400	391	c.914 others(410): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCC CCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCC TCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCC GCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGC CTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCT CCTCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTCCC CCTCCCGCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(384): Show CGGGGGGCGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGA GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGG CGGGAGGGGGAGGAGGCGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGA GGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGGCGG GAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGG GGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAAGGAGGCGGGGGGG GCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	25	0.0400	391	c.914 others(410): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCC CCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCC TCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCG CCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCC TCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCTC CTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTCCC CCTCCCGCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC66A2_chr18_79897420_79956653	79916193	C C	CGGTGCTC others(384): Show CGGTGCTCCCGTACCCATGGCGCTCCCATACCCACAGTGCTTCTGTACCC GCGGTGCTCTCATAGCCGCAGTGCTCCCCGTACCCTCCCATACCCACGGT GCTCCCGTACCCATGGTGCTCTCATTGCCGCAGTGCTCCCGTACCCTCCC ATACCCACGGTGCTCCCGTACCCTCCCATACCCACGGTGCTCCCGTACCC ATGGCGCTCCCATACCCACAGCGCTCCCGTACCCACGGTGCTCTCATAGC CGCAGTGCTCCCGTACCCTCCCATACCCACGGTGCTCCCGTACCCATGGC GCTCCCATACCCACAGCGCTCCCGTACCCACGGTGCTCTCATACCCGCAG TGCTCCCGTACCCTCCCATACCCACGGTGCTCCCGTACCCAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01884.hp2 HG01069.hp1 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0275 a0001c0001t0007g0276	2	293	0.0068	391	c.608 others(408): Show c.608+2990_608+2991insATGGGTACGGGAGCACCGTGGGTATGGG AGGGTACGGGAGCACTGCGGGTATGAGAGCACCGTGGGTACGGGAGCGCT GTGGGTATGGGAGCGCCATGGGTACGGGAGCACCGTGGGTATGGGAGGGT ACGGGAGCACTGCGGCTATGAGAGCACCGTGGGTACGGGAGCGCTGTGGG TATGGGAGCGCCATGGGTACGGGAGCACCGTGGGTATGGGAGGGTACGGG AGCACCGTGGGTATGGGAGGGTACGGGAGCACTGCGGCAATGAGAGCACC ATGGGTACGGGAGCACCGTGGGTATGGGAGGGTACGGGGAGCACTGCGGC TATGAGAGCACCGCGGGTACAGAAGCACTGTGGGTATGGGAGCGCCATGG GTACGGGAGCACC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	5/5			chr18	TogoVar
SMYD3_chr1_245744347_246512279	246009972	G G	GCCCAGCT others(384): Show GCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGG CCAGGCTGGTCTTGAACTGACCTCATGATCTGCCTGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAACCACTGTGCCCGGCCAAGATCATGTTT ATATAAAGTTTGTTATAAAGCTCTCTTGGTATTATCCCCAATAACAAAAA CTTTAAAAAAAAAAAAAAACAGTATTTTTGGCCGGGCACAGTGGCTCATG CCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATTTGAACT CAGGAGTTCAAGACCAGCCTAGGCAACATGGTGAAATCCATCTCTACTAA AAATACAAAAATTAGCCGGGCATGGTGGCACACGGCTGTAAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01243.hp1 others(4): Show HG00733.hp2 HG01109.hp1 HG01243.hp1 HG02257.hp1 HG02451.hp2 HG02559.hp2 HG02717.hp1	a0002 a0002	a0002c0007 a0002c0008 a0002c0007 a0002c0008	a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 others(1): Show a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002	a0002c0007t0001g0135 a0002c0007t0001g0140 a0002c0007t0001g0141 others(4): Show a0002c0007t0001g0135 a0002c0007t0001g0140 a0002c0007t0001g0141 a0002c0007t0004g0111 a0002c0008t0001g0112 a0002c0008t0001g0145 a0002c0008t0002g0142	7	75	0.0933	391	c.532 others(410): Show c.532-80036_532-80035insATTACAGCCGTGTGCCACCATGCCCG GCTAATTTTTGTATTTTTAGTAGAGATGGATTTCACCATGTTGCCTAGGC TGGTCTTGAACTCCTGAGTTCAAATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTATAGGCATGAGCCACTGTGCCCGGCCAAAAATACTGTTT TTTTTTTTTTTTAAAGTTTTTGTTATTGGGGATAATACCAAGAGAGCTTT ATAACAAACTTTATATAAACATGATCTTGGCCGGGCACAGTGGTTCACGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCATGAGGTCAG TTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATA CAAAAATTAGCTGGG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNX6_chr14_34556093_34635148	34557523	C C	CTTCTTCT others(384): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC TCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTC TTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCCT CTTCCTCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCCTCTTCC TCTTCTTCCTCTTCCTCTTCTTCCTCTTCTTCTTCTTCCTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0304 a0001c0001t0003g0304	1	320	0.0031	391	c.55 others(402): Show c.5598_*5599insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAGGAAGAAGAGGAAGAG GAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGA AGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAGG AAGAGGAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAGGAAGAG GAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAA	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3569		chr14	TogoVar
SORCS2_chr4_7187538_7747827	7449171	T T	TCCCTTCC others(384): Show TCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTC CCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCC TTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTC CCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCC TCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCC TCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTC CCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0007 a0007	a0007c0027 a0007c0027	a0007c0027t0002 a0007c0027t0002	a0007c0027t0002g0116 a0007c0027t0002g0116	1	138	0.0072	391	c.548 others(410): Show c.548+52816_548+52817insCCCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT TCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTTCCTCCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26			chr4	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(384): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAAGGGGGAAGGGGAGGGGGAGGTG GGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAA GCGGGAACGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGG GGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGA GGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGA GGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGG GGGAGGGGATATGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0019 a0004c0005t0019	a0004c0005t0019g0175 a0004c0005t0019g0175	1	12	0.0833	391	c.34 others(400): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATATCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCC TCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCC CCTTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGT TCCCGCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCC CCCTCCCACCTCCCCCTCCCCTTCCCCCTTCCCCCTCCCCCTCCCCCTCC CACCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTT CCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPIRE2_chr16_89823475_89876319	89852377	C C	CCCATATT others(384): Show CCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCA TGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTT CCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCT CTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCG GATCCCATGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGC CCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCAT CCTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCAC CCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp2 HG01168.hp1 others(1): Show HG01070.hp1 HG01074.hp2 HG01168.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0219 a0001c0001t0001g0223 others(1): Show a0001c0001t0001g0204 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0224	4	307	0.0130	391	c.645 others(408): Show c.645+1720_645+1721insTATTCCATGGCCCATCTTCCATCCTCCC CCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCA GATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGC CCATCTTCCATCCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCA TCCTCCCCCCACCCCCCGGATCCCATGGCCCATCTTCCATCCTCCCCCCA CCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATC CCCTGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCAT CTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTC TCCCCACCCACCA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852518	A A	ATCCTCCC others(384): Show ATCCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCC CACCCCCCGGATCCCACGGCCCATCTTCCATCCTCCCCCCACCCACCAGA TCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCC ATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCC TCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCC ACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCA TGGCCCATCTTCCATCCTCTCCCCACCCCCCAGATCCCATGGCCCATCTT CAATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	263	0.0038	391	c.646 others(408): Show c.646-1759_646-1758insTCACCCCCCATATTCCATGGCCCATCTT CCATCCTCCCCCCACCCCCCGGATCCCACGGCCCATCTTCCATCCTCCCC CCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAG ATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCC CATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATC CTCTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACC CCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCCCCAGATCCC ATGGCCCATCTTCAATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCT TCCGTCCTCCCTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852518	A A	ATCCTCCC others(384): Show ATCCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCC CACCCCCCGGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCGGA TCCCACGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCC ATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCC TCTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCC CCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCA TGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTT CCATCCTCCCTCCACCCCCCAGATCCCCTGGCCCGTCTTCCG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	263	0.0038	391	c.646 others(408): Show c.646-1759_646-1758insTCACCCCCCATATTCCATGGCCCATCTT CCATCCTCCCCCCACCCCCCGGATCCCATGGCCCATCTTCCATCCTCCCC CCACCCCCCGGATCCCACGGCCCATCTTCCATCCTCCCCCCACCCACCAG ATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCC CATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTTCCATC CTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACC CACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCC CTGGCCCATCTTCCATCCTCCCTCCACCCCCCAGATCCCCTGGCCCGTCT TCCGTCCTCCCTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(384): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGG GGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGG GGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGG GGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGAGGGG AGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0198 a0010c0018t0001g0198	1	6	0.1667	391	c.138 others(410): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCT CCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCC TCCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(384): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGGAGGGGAGGGGGAGGG GGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGG GGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGG GGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGAGGGG AGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0200 a0002c0002t0002g0200	1	6	0.1667	391	c.138 others(410): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCT CCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCT CCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(384): Show AGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGG GGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGG GGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGAGGGG AGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0219 a0002c0002t0002g0219	1	6	0.1667	391	c.138 others(410): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCT CCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCT CCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
STXBP6_chr14_24804454_25055147	24965340	T T	TTGCTGTT others(384): Show TTGCTGTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGATTCTATATTTG GAAGTTATCCTTCCATATTTTTGTACAGCTTTAAAAATTATCACCGGTAC ATCTCTACAAAATGTATCAATAATATGTTAAACAGCACAAAATTTAGAGT TTATAGGAAATCCACTAAAACCTGTACATAAAGTTGACATTGATCCTTTG GCCACTAGTCCTTGAGCCTAGTTCTTTATTTCACTGTGAGTCCATCTAAC TGGAGTTTCATCCTGGCCACAGTGCGTAATATTGTCATCAAGTATTCACT AATTTTGGAATGAGGTTGAAAATACATAAATAATATGTCTGTTTCATCGT AACAATAAAACTTAGTTTCAGAAAAACTACATGACTTATCAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	219	0.0046	391	c.154 others(408): Show c.154+9324_154+9325insTTGATAAGTCATGTAGTTTTTCTGAAAC TAAGTTTTATTGTTACGATGAAACAGACATATTATTTATGTATTTTCAAC CTCATTCCAAAATTAGTGAATACTTGATGACAATATTACGCACTGTGGCC AGGATGAAACTCCAGTTAGATGGACTCACAGTGAAATAAAGAACTAGGCT CAAGGACTAGTGGCCAAAGGATCAATGTCAACTTTATGTACAGGTTTTAG TGGATTTCCTATAAACTCTAAATTTTGTGCTGTTTAACATATTATTGATA CATTTTGTAGAGATGTACCGGTGATAATTTTTAAAGCTGTACAAAAATAT GGAAGGATAACTTCCAAATATAGAATCAAAAAAAAAAAAAAAAAAAAAAA AAAGACAACAGCA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(384): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGAGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGG GGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGA GGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGA GGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGGGGGA GAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0197 a0001c0003t0003g0197	1	108	0.0093	391	c.-18 others(410): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCTCCCTCCCTCCC TCCCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCT CTCTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCT CCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCT CCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCC CTCCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCC CCTCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCCCC TCTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(384): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGAGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGG GGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGA GGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGGGGG GAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0234 a0001c0001t0007g0234	1	108	0.0093	391	c.-18 others(410): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC CCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTC TCTCTCCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCT CCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCT CCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCC CTCCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCC CCTCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCCCC TCTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(384): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGAGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGG GGGAGAGGGGGAGGGAGGGGGGAGGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGA GGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGG GAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGGGG GAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0199 a0001c0003t0003g0199	1	108	0.0093	391	c.-18 others(410): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCC CCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCCTCCCCCC TCCCTCCCCCTCTCCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCC CCTCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCCCC TCTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYTL3_chr6_158645054_158769871	158701195	A A	AAGGAGTG others(384): Show AAGGAGTGTGAGCTGGGGTGTAGATGGAGGAGGTGAGCTGGGGTGTAGAT GAAGGAGGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTA GATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGG TGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTGGGGG AGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTACATG AAGGACTGTCTGGGGGGAGGAGCCGTGGGAAGAGGGTCATGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0193	1	206	0.0049	391	c.395 others(408): Show c.395-6010_395-6009insGAGGAGGTGAGCTGGGGTGTAGATGAAG GAGGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATG AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTA GATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTGGGGGAGGA GCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGG ACTGTCTGGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGC TGGGGTGTAGATG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBC1D22A_chr22_46757650_47180693	47128216	C C	CCATCCTC others(384): Show CCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCC CTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCT ACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCC CTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCC ACCCATCCCTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCC CCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCC TCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCCCCTC CACCCCACCCATCCCCCCTTCCCTCACCCATCCCTCCCTCCG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	7	0.1429	391	c.142 others(412): Show c.1425+16614_1425+16615insATCCTCCCTCCACCCCACCCATCC TCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGC CCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACC CCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGC CCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCAC CACCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCT CCCTCCACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCC CTCCACCCCACCCATCCTCCCCTCCACCCCACCCATCCCCCCTTCCCTCA CCCATCCCTCCCTCCGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(384): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCTCCCTTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCTCTCCCCT CCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCT CCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	165	0.0061	391	c.186 others(408): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCC CTCCTCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTC CCCCCTCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(384): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCT CCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCCCTC CCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCC CCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCCCCCTCC CCCCTCCCCTCCCCCCTCCCCCCATCCCCTCCTCTCCCCTCCCCCCTCCC CCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	165	0.0061	391	c.186 others(408): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCC CCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCC TCCCCTCCCCCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCATCCCCTC CTCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(384): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCC CTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCC CGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	165	0.0061	391	c.186 others(408): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCT CTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCC TCCCCTCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF25_chr16_89868592_89916379	89885103	G G	GCCCCTCT others(384): Show GCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCC CTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTG ACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCT CCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCC TGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCC CTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTC TGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACG CCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGATGC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0268 a0001c0005t0004g0268	1	241	0.0041	391	c.429 others(406): Show c.429+450_429+451insCTCTCCCTCTGCCTGACGCCCTCTCCCTCT GCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCC CCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCT CTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACG CCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTC CCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCC TGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCT CTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTG CCTGATGCCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGCCATC others(384): Show CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCTACGACCGCCATCCACAGTCACCACATCAGGCC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCCACAACCGCCAT CCACAGTCACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACA CATCAGACCCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCAC AACCGCCATCCACAGTCACCACACATCAGACCCCCACAACCGCCATCCAC AGTCACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACACATC AGACCCTACGACCGCCATCCACAGTCACCACATCAGGCCCCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0381 a0001c0023t0001g0381	1	98	0.0102	391	c.228 others(410): Show c.2287-1509_2287-1508insTGGGGCCTGATGTGGTGACTGTGGAT GGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TTGTGGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGCCTGATGTGGTGACTGTGGATGGCGGTCGTAG GGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGG TGACTGTGGATGGCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	376900	T T	TCTGTGCC others(384): Show TCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTGTGCCCCACC CAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	350	0.0029	391	c.-93 others(400): Show c.-931_-930insGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAG AGGCTGGGTGGGGCACACGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGG CACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		875		chr19	TogoVar
THEG_chr19_356747_381026	377445	T T	TGTACCCC others(384): Show TGTACCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGC CTCTCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACC CAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0127 a0001c0001t0008g0127	1	356	0.0028	391	c.-14 others(402): Show c.-1476_-1475insGGGGGGGGAGAGGCTGGGTGGGGCACGGGGGGGG AGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACGGG GGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGT GGGGTAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1420		chr19	TogoVar
TMCO3_chr13_113486021_113555229	113543323	C C	CCTGTCCG others(384): Show CCTGTCCGTGACCCCCTCCTCCCCCTGCGCCCCTACCCTCCCTGTGTGTT ACCCCCACCTCCTCTCCCTGCCCCCCCGTCCGTGACCCCCACCTCCTCCC CCTGCCCCTCGCCCTCCCTGTCCGTGACCCCCTCCTCCCCCTGCGCCCCT ACCCTCCCTGTGTGTTACCCCCACCTCCTCTCCCTGCCCCCCCGTCCGTG ACCCCCACCTCCTCCCCCTGCCCCTCGCCCTCCCTGTCTGTGACCACCTC CTCCCCCTGCGCCCCTACCCTCCCTGTGTGTTACCCCCACCTCCTCTCCC TGCCCCCACTCTGTCCGTGACCCCCACCTCCTCCCCTTGCCCCCCCGCCC TCCCTCTGTCCGTGACCCCCTCCTCCCCCTGTGCCCCACCCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0011 a0003c0002t0002g0011	1	349	0.0029	391	c.169 others(410): Show c.1690+3818_1690+3819insGTCCGTGACCCCCTCCTCCCCCTGCG CCCCTACCCTCCCTGTGTGTTACCCCCACCTCCTCTCCCTGCCCCCCCGT CCGTGACCCCCACCTCCTCCCCCTGCCCCTCGCCCTCCCTGTCCGTGACC CCCTCCTCCCCCTGCGCCCCTACCCTCCCTGTGTGTTACCCCCACCTCCT CTCCCTGCCCCCCCGTCCGTGACCCCCACCTCCTCCCCCTGCCCCTCGCC CTCCCTGTCTGTGACCACCTCCTCCCCCTGCGCCCCTACCCTCCCTGTGT GTTACCCCCACCTCCTCTCCCTGCCCCCACTCTGTCCGTGACCCCCACCT CCTCCCCTTGCCCCCCCGCCCTCCCTCTGTCCGTGACCCCCTCCTCCCCC TGTGCCCCACCCTCT	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(384): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCCCCTCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCT CTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCC CTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCG CCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCC CCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTT CCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCC CCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG04115.hp2 HG04204.hp1 others(1): Show HG03704.hp1 HG04115.hp2 HG04204.hp1 NA18970.hp1	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0002 a0004c0003 a0008c0007 a0002c0002 a0004c0003 a0008c0007	a0002c0002t0001 a0004c0003t0003 a0008c0007t0003 a0002c0002t0001 a0004c0003t0003 a0008c0007t0003	a0002c0002t0001g0061 a0004c0003t0003g0063 a0008c0007t0003g0043 others(1): Show a0002c0002t0001g0061 a0004c0003t0003g0063 a0008c0007t0003g0043 a0008c0007t0003g0060	4	49	0.0816	391	c.-25 others(410): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCCCCCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCC TCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTC CTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCT TCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCC CCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCC CTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCC TCCCCCTCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377594	C C	CTCCCCTC others(384): Show CTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCCCCTCCTCTCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCT CCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCT CTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCC CTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCC TCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCC CTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCC TCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	82	0.0122	391	c.-25 others(410): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCCCCCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCC TCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTC CTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCT TCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCC CCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCC CTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCC TCCCCCTCCCCCTTA	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930756	C C	CAGGGTAG others(384): Show CAGGGTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGT TAAGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	323	0.0031	391	c.48 others(402): Show c.4834_*4835insTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGG CCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTC CCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAAC CCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCG GCCTCCCTACCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCC CTACCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4613		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273203	A A	AATATATA others(384): Show AATATATATAAAAATTATATATATATTATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTGTATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATAAAA ATTATATATATATTATATATATAAAAATTATATATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	259	0.0039	391	c.27 others(402): Show c.2768_*2769insATATATATAAAAATTATATATATATTATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTGTAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATAT ATATTAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2090		chr11	TogoVar

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