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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(833): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGG AGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAG GGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGG GAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGA GGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGG ACGGAAGGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATGGAA GGATGGAGGGAGGAAAGAATGGAGGGAGGGAGGGAAGAATGGAGGGAGGG AGGGAGGGAAGAATGGAGGAAGGGAGGGAGGGAGGGGAGAATGGAGGAAG GGAGGGAGGGAGGGAAGAATGGAGGGAAGAATGGAGGGAGGGAGGGAGGG AGGGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAGGGAGGTAAGAAT GGAGGGAGGGAGGGAAGAATGCAGGGAGGGAGGGAGGGAAGAATGCAGAG AGGGAGGGAAGAATGGAAGAATGGAGGGAGGGAAGAATGGAGGGAGGGAA GAGTGGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAGGGAGGGAAGA GTGGAAAAATGGAGGGAGCGAGTGAGGGAGGGAAGAATGGAAGAATGGAA GAATGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAATGCAAGA CTGGAGGGAGGGAAGAATGGAAGAATGGACGGAAGGAAGAGTGGAAGAAT GGAGGGAGGGAGGGAGGGAGGGAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0085 a0001c0085	a0001c0085t0020 a0001c0085t0020	a0001c0085t0020g0060 a0001c0085t0020g0060	1	2	0.5000	840	c.415 others(861): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGC TCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTC TCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCT TCCATTCTTCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGCATT CTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCTCCC TCCCTCCATTCTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCATT CTTCCCTCCCTCCCTCCCTTCCTCCATTCTCCCCTCCCTCCCTCCCTTCC TCCATTCTTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCCTCCCTCCATT CTTTCCTCCCTCCATCCTTCCATCCCTCCCTCCTTCTAGCCTCGCCTCCC TCCTTCCCTCCTTCCGTCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTC CCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCC TCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTC CCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCC TCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTCCTTCCATCCTCCCCTC CCTCCCTCCCTCCCTC		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(833): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGG AGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAG GGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGG GAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGA GGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGG ACGGAAGGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATGGAG GGAGGGATGGAAGGATGGAGGGAGGAAAGAATGGAGGGAGGGAGGGAAGA ATGGAGGGAGGGAGGGAGGGAAGAATGGAGGAAGGGAGGGAGGGAGGGAA GAATGGAGGAAGGGAGGGATGGAGGGAAGAATGGAGGGAGGGAGGGAGGG AGGGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAGGGAGGTAAGAAT GGAGGGAGGGAGGGAAGAATGCAGGGAGGGAGGGAGGGAAGAATGCAGAG AGGGAGGGAAGAATGGAAGAATGGAGGGAGGGAAGAATGGAGGGAGGGAA GAGTGGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAGGGAGGGAAGA GTGGAAAAATGGAGGGAGCGAGTGAGGGAGGGAAGAATGGAAGAATGGAA GAATGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAATGCAAGA CTGGAGGGAGGGAAGAATGGAAGAATGGACGGAAGGAAGAGTGGAAGAAT GGAGGGAGGGAGGGAGGGAGGGAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0076 a0002c0076	a0002c0076t0039 a0002c0076t0039	a0002c0076t0039g0014 a0002c0076t0039g0014	1	2	0.5000	840	c.415 others(861): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGC TCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTC TCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCT TCCATTCTTCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGCATT CTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCTCCC TCCCTCCATTCTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCATC CCTCCCTTCCTCCATTCTTCCCTCCCTCCCTCCCTTCCTCCATTCTTCCC TCCCTCCCTCCCTCCATTCTTCCCTCCCTCCCTCCATTCTTTCCTCCCTC CATCCTTCCATCCCTCCCTCCATCCCTCCCTCCTTCTAGCCTCGCCTCCC TCCTTCCCTCCTTCCGTCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTC CCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCC TCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTC CCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCC TCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTCCTTCCATCCTCCCCTC CCTCCCTCCCTCCCTC		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
CTDP1_chr18_79674803_79759503	79687173	T T	TCAGTTCA others(833): Show TCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCAGTTCACT GGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTG CACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCATGCACCGCAGCA GTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCT CCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACT GGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTG CACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCACAGCA GTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCG TCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCAGT GGTGGGCATGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTG CACCAGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCA GTTGGCTTCGCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCG TCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTCACT GGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCAGTTCACTGGTGGGCCTG CACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGGAGCA GTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCT CCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0005 a0005c0015t0005	a0005c0015t0005g0359 a0005c0015t0005g0359	1	303	0.0033	840	c.314 others(857): Show c.314+6950_314+6951insGCCAGTTCACTGGTGGGCCTGCACCGCA GCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCT TCTCCAGTTCACTGGTGGGCATGCACCGCAGCAGTTGGCTTCTCCAGTTC ACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGC CTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCGCA GCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCT TCGTCAGTTCACTGGTGGGCCTGCACCACAGCAGTTGGCTTCTCCAGTTC ACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGC CTGCACCGCAGCAGTTGGCTTCTCCAGTTCAGTGGTGGGCATGCACCGCA GCAGTTGGCTTCGTCAGTTCACTGGTGGGCCTGCACCAGAGCAGTTGGCT TCTCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGCCAGTTC ACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCGTCAGTTCACTGGTGGGC CTGCACCGGAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCA GCAGTTGGCTTCGCCAGTTCACTGGTGGGCCTGCACCGCAGCAGTTGGCT TCGTCAGTTCACTGGTGGGCCTGCACCGGAGCAGTTGGCTTCTCCAGTTC ACTGGTGGGCCTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGC CTGCACCGCAGCAGTTGGCTTCTCCAGTTCACTGGTGGGCCTGCACCGCA GCAGTTGGCTTC		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CYP4F11_chr19_15907377_15939529	15933585	G G	GAGAGGAA others(833): Show GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAGTGAGTGAGCGAGCAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGAGAAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGAGGAGAGGAGTGAGTGAGCGAGCAGAGGAGTG AGTGAGCGAGCAGAGGAGTGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0330 a0001c0002t0007g0330	1	326	0.0031	840	c.198 others(855): Show c.198+625_198+626insGCCCACTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT GCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT GCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCACTCCTCT GCTCGCTCACTCACTCCTCTGCTCGCTCACTCACTCCTCTCCTCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTTCTCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTGCTCGCTCACTCACTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCT		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
DSC1_chr18_31124236_31167856	31152938	T T	TTGCAAGT others(833): Show TTGCAAGTGGTGTTTCTTTTTTTATTTTTTTTTATTTTTTTATTTTTTTA TTTTTTTTTTTAATTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACAT GTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTG CGCTGCACCCACTAACTCGTCATCTAGCCTTAGGTATATCTCCCAATGCT ATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATACCT GTGTCCATGTGATCTAATTGTTCAATTCCCACCTATGAGTGAGAATATGC GGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCC AATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGC TGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTA TCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGT GCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATA GTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGATCAAATGGTATTT CTAGTTCTAGATCCCTGAGGAATTGCCACACTGACTTCCACAATGGTTGA ACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACA TCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAA CTGGTGTGAGATGATATCTCATAATGGTTTTGATTTGCATTTCTCTGATG GCCAGTGATGATGAGCTCTGAGCTACGGGAGGACATTCAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02559.hp2 others(1): Show HG02055.hp1 HG02451.hp2 HG02559.hp2 HG02976.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0040 a0001c0013t0001g0295 a0001c0013t0001g0296 a0001c0013t0001g0040 a0001c0013t0001g0295 a0001c0013t0001g0296	4	248	0.0161	840	c.627 others(857): Show c.627+1835_627+1836insTTTGAATGTCCTCCCGTAGCTCAGAGCT CATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCATTATGAGATAT CATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAG GTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGG ACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCAATTCCTCAGG GATCTAGAACTAGAAATACCATTTGATCCAGCCATCCCATTACTGGGTAT ATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTA TGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAA TGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCAT GGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGA CATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAA AAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATTAG ATCACATGGACACAGGTATCACACTCTGGGGACTGTGGTGGGGTCGGGGG AGGGGGGAGGGATAGCATTGGGAGATATACCTAAGGCTAGATGACGAGTT AGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCT GCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAA TTAAAAAAAAAAATAAAAAAATAAAAAAATAAAAAAAAATAAAAAAAGAA ACACCACTTGCA		DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	5/15						chr18	TogoVar
DSC1_chr18_31124236_31167856	31152938	T T	TTGCAAGT others(833): Show TTGCAAGTGGTGTTTCTTTTTTTATTTTTTTTTATTTTTTTATTTTTTTA TTTTTTTTTTTAATTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACAT GTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTG CGCTGCACCCACTAACTCGTCATCTAGCCTTAGGTATATCTCCCAATGCT ATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATACCT GTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGC GGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCC AATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGC TGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTA TCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGT GCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATA GTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGATCAAATGGTATTT CTAGTTCTAGATCCCTGAGGAATTGCCACACTGACTTCCACAATGGTTGA ACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACA TCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAA CTGGTGTGAGATGATATCTCATAATGGTTTTGATTTGCATTTCTCTGATG GCCAGTGATGATGAGCTCTGAGCTACGGGAGGACATTCAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	245	0.0041	840	c.627 others(857): Show c.627+1835_627+1836insTTTGAATGTCCTCCCGTAGCTCAGAGCT CATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCATTATGAGATAT CATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAG GTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGG ACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCAATTCCTCAGG GATCTAGAACTAGAAATACCATTTGATCCAGCCATCCCATTACTGGGTAT ATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTA TGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAA TGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCAT GGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGA CATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAA AAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG ATCACATGGACACAGGTATCACACTCTGGGGACTGTGGTGGGGTCGGGGG AGGGGGGAGGGATAGCATTGGGAGATATACCTAAGGCTAGATGACGAGTT AGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCT GCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAA TTAAAAAAAAAAATAAAAAAATAAAAAAATAAAAAAAAATAAAAAAAGAA ACACCACTTGCA		DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	5/15						chr18	TogoVar
EHMT1_chr9_137614005_137841127	137716506	G G	GTGTCATG others(833): Show GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGG GGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGT GGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTC ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGG AAGTGGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AGGAAGTGGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	132	0.0076	840	c.86- others(853): Show c.86-118_86-117insTCATGGTGGGGGAGGAAGTTGTGGTGTCATGG TGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTG TCATGGTGGGGGAGGAAGTGGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTGGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGTTG		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
FLT3_chr13_27998274_28105576	27999113	A A	ATATGTAT others(833): Show ATATGTATATTATATACATATAAATATATATTTACATACATATAAATATA TATTTACATACATATAAATATATATATTTACATACATATAAATATATATT TACATACATATAACTATATATATTTACATACATATAACTATATATATTTA CATACATATAACTATATATATTTACATACATATAACTATATATATTTACA TACATATAAATATATATATTTACATACATATAAATATATATATTTACATA CATATAAATATATATATTTACATACATATAAATATATATATTTACATACA TATAAATATATATATTTACATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATT TATATACTTATATACATATAAATTTATATACTTATATACATATAAATTTA TATACATATAAATATATATATTTATATACATATAAATATATATATTTATA TGCATATAAATATATATATTTATATGCATATATATATATTTATATGCATA TAAATATATATATTTATATGTATATAAATATATATATTTATATGCATATA AATATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TTTATATGTATATAAGTATATAAATTTATATGTATATAAGTATATAAATA TATATTTATATACATATAAATATATATTTATATACATATAAAAATATATT TATATACATATAAAAATATATATTTATATACATATAAAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0016 a0016	a0016c0043 a0016c0043	a0016c0043t0004 a0016c0043t0004	a0016c0043t0004g0224 a0016c0043t0004g0224	1	24	0.0417	840	c.49 others(851): Show c.4938_*4939insATATATTTATATGTATATAAATATATATATTTAT ATGTATATAAATATATATTTTTATATGTATATAAATATATATTTTTATAT GTATATAAATATATTTTTATATGTATATAAATATATATTTATATGTATAT AAATATATATTTATATACTTATATACATATAAATTTATATACTTATATAC ATATAAATTTATATACATATAAATATATATATTTATATACATATAAATAT ATATATTTATATGCATATAAATATATATATTTATATACATATAAATATAT ATATTTATATGCATATAAATATATATATATGCATATAAATATATATATTT ATATGCATATAAATATATATATTTATATGTATATAAATATATATATTTAT ATGTATATAAATTTATATGTATATAAGTATATAAATTTATATGTATATAA GTATATAAATTTATATGTATATAAATATATATTTATATGTATATAATTAT ATATATTTATATGTATATAATTATATATTTATATGTATGTAAATATATAT ATTTATATGTATGTAAATATATATATTTATATGTATGTAAATATATATAT TTATATGTATGTAAATATATATATTTATATGTATGTAAATATATATATTT ATATGTATGTAAATATATATAGTTATATGTATGTAAATATATATAGTTAT ATGTATGTAAATATATATAGTTATATGTATGTAAATATATATAGTTATAT GTATGTAAATATATATTTATATGTATGTAAATATATATATTTATATGTAT GTAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAATA TACATA		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding					4160		chr13	TogoVar
GTPBP6_chrX_299759_323796	323687	T T	TGTGTGTG others(833): Show TGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCG TTTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTC AGGGACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAGCCGTCA ATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGA GGGCGTCCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTG TGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAG AGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTTTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTG GGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCC CCAGGTGGTGAGCTCAGGGACGTTTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGT TCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCT CCTGGGTTCCGTCTGCCCTGTTCATAGAGACGGAATGAGGGCGTCCCCAG GTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAG AGACGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0100 a0001c0003t0002g0100	1	149	0.0067	840	c.-49 others(851): Show c.-4901_-4900insCGTCCCTGAGCTCACCACCTGGGGACGCCCTCAT TCCGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGAC GGCTACACACACACACACACACACACACACACACACACACGTCCCTGAGC TCACCACCTGGGGACGCCCTCATTCCGTCTCTATGAACAGGGCAGACGGA ACCCAGGAGCCCAGGAGATTGACGGCTACACACACACACACACACACACA CACACACACACGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATC TCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACGGCTAC ACACACACACACACACACACACACACACACACAAACGTCCCTGAGCTCAC CACCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCC AGGAGCCCAGGAGACTGACGGCTACACACACACACACACACACACACACA CACACACACACACAAACGTCCCTGAGCTCACCACCTGGGGACGCCCTCAT TCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTGAC GGCTACACACACACACACACACACACACGTCCCTGAGCTCACCACCTGGG GACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCC AGGAGATTGACGGCTAAACACACACACACACACACACACACACACACACA CGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACA GGGCAAACGGAACCCAGGAGCCCAGGAGATTGACGGCTACACACACACAC ACACAC		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					4892		chrX	TogoVar
HPCAL1_chr2_10297904_10432604	10399208	G G	GCACCACC others(833): Show GCACCACCACCACCACCACCACCGCCGCTGCCGCTACCACCATCACCACC ACCACCACCACCACCACCATCACCACCACCACCATCACCATCATCACCAC CACCACCACCACCACCATCACCACCACCACCATCACCGCCACCACCATCA CCATCACCACCACCACCACCACCACCATCACCGCCACCACCATCACCATC ACCATCACCGCCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCATCATCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCATCACCATCATCACCACCACCACCATCACCATCATCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCATCAT CACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCA CCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCAC CGCCACCACCACCACCATCACCGCCACCACCATCACCATCACCACCACCA CCACCACCACCACCACCACCACCACCACCATCACCATCATCACCACCACC ACCACCACCACCGCCACCACCACCACCATCACCGCCACCACCATCACCAT CACCACCACCACCACCACCACCACCACCACCACCATCACCGCCACCACCA TCACCATCATCACCACCACCACCACCATCACCACCACCACCACCACCACC GCCACCACCACCATCACCACCACCACCATCACCATCACCAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	279	0.0036	840	c.-25 others(857): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCACCACCATCACCACCACCACCATCACCATCATCACCACC ACCACCACCACCACCATCACCACCACCACCATCACCGCCACCACCATCAC CATCACCACCACCACCACCACCACCATCACCGCCACCACCATCACCATCA CCATCACCGCCACCACCATCACCACCACCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCATCATCACCACCACCACCATCACCATCATCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCATCACCATCATC ACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCAC CACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACC GCCACCACCACCACCATCACCGCCACCACCATCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCACCATCACCATCATCACCACCACCA CCACCACCACCGCCACCACCACCACCATCACCGCCACCACCATCACCATC ACCACCACCACCACCACCACCACCACCACCACCATCACCGCCACCACCAT CACCATCATCACCACCACCACCACCATCACCACCACCACCACCACCACCG CCACCACCACCATCACCACCACCACCATCACCATCACCACCACCACCACC ACCACCACCACC		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
IFFO2_chr1_18899280_18961676	18925816	A A	ATGGATGG others(833): Show ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0011 a0001c0001t0037g0011	1	285	0.0035	840	c.666 others(857): Show c.666-4696_666-4695insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCC ATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCA		IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8						chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(833): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	89	0.0112	840	c.666 others(857): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCA		IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8						chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(833): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	89	0.0112	840	c.666 others(857): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCA		IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8						chr1	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406508	C C	CGTCTTCC others(833): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTAGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGC CTTCAGTGTGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCC TCAGGCCTTCAATGTGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCG TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTGTGTCACTGAGTG GACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTGTGTCAC TGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTT TGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAATG TGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCT TCAGTGTGTGTGTGTCACTGAGTGGACCTCTGTGACATCTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0148 a0001c0001t0023g0148	1	226	0.0044	840	c.32 others(849): Show c.325_*326insTAGATGTCACAGAGGTCCACTCAGTGACACACACAC ACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAC ACACACATTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAG TGACAAACACACACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCC ACTCAGTGACACACACACACTGAAGGCCTGAGGAAGACTAGATGTCACAG AGGTCCACTCAGTGACACACACACATTGAAGGCCTGAGGAAGACGAGATG TCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGAC GAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAG GAAGACGAGATGTCACAGAGGTCCACTCAGTGACACACACACATTGAAGG CCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACACACACACAC TGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAAC ACACACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTG ACAAACACACACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCAC TCAGTGACAAACACACACTGAAGGCCTGAGGAAGACTAGATGTCACAGAG GTCCACTCAGTGACAAACACACATTGAAGGCCTGAGGAAGACTAGATGTC ACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGA GATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGA AGAC		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				325		chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132173149	T T	TCTCTCTC others(833): Show TCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTC CTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTC CCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTC TCCCCCTCCCCTCCCCCTGTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCC CCTCCCCCCTCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCATCCCCT CCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCATCCGCCTC CCCCCTCTCCCCCTCCCCCATCCCCCTCCCCTCCCCCCTCTCCCCCTCCC CCCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTCTCCCCC TCCCCTCCCCCCTCCCCCTCCCCCTCTCTCCCCCTCCCCTCCCCCCTCCC CCTCCCGTCCCCCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCT TCCCTCTCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCT CCCCCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTC TCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTC TCTCCCCCCCTCCTTCCCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTC TCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTC TCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCCTCTCTCTC TCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0014 a0001c0001t0036g0014	1	144	0.0069	840	c.11 others(861): Show c.1103+4125_*1103+4126insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCC TCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTC CTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTGTCTCCCCCTCCCCCC TCTCTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCCTCCC CCTCCCCCCATCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCCCATCCGCCTCCCCCCTCTCCCCCTCCCCCATCCCCCTCCCCTCC CCCCTCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCC CTCCCCCCTCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCTCTCCCCC TCCCCTCCCCCCTCCCCCTCCCGTCCCCCTCTCCCCCTCCCCCCTCTCTC TCCCCCTCCCCCTCCTTCCCTCTCCCCTCCCCCTCCTTCCCTCTCCCCCT CCCCCTCCTTCCCTCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCTCCCC CCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCC CCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCCCCCCC TCCTTCCCTCTGTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCC TCCTTCCCCCTGTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCC TCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCC TCCTTCCCTCTCTCTC		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF26A_chr14_104133587_104185894	104153599	C C	CGGACCCC others(833): Show CGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCC ACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGC CACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGT GCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTG GCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGA GCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACC CCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTT GCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAG GTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCC TGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCA GAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAA CCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCC TTGCCACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCACG AGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCACGAGGTGCCT CCTGGCCCCAGAGCTGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCC CAGAGCTGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCTG AACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0041 a0041	a0041c0088 a0041c0088	a0041c0088t0012 a0041c0088t0012	a0041c0088t0012g0113 a0041c0088t0012g0113	1	110	0.0091	840	c.735 others(857): Show c.735+1139_735+1140insGACCCCACCCTTGCCACGAGGTGCCTCC TGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCA GAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGA CCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCC TTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACG AGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCT CCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCC CAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCG GACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCAC CCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCA CGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGC CTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGC CCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGC TGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCC ACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGC CACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCATGAGGT GCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCATGAGGTGCCTCCTG GCCCCAGAGCTG		KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr14	TogoVar
KIRREL3_chr11_126418358_127005770	126799454	C C	CTGTGTGC others(833): Show CTGTGTGCATGTGTGTACCTGTAGGCATGTGCATGTGTGTATGTGTGTGT GCATGTGTGTATCTCTGTGTGTGCATGTGTGTATCTGTGTGCATGTGTGT ATCTGTGTGCATGTGCATGTGTATATCTGTATGTGTGCATGTGTGTATCA CTGTGTGCATGTATGTGTCTGTGTGTGAATGTGTGTATCTGTGTATGTGC ATGTAGCTGTGTGTGTGCATGTATCTGTGTGCATGTGGTATCTGTGTGTG CGCATGTGTATCTGCATATGTGTGTATCCATGTGCACATGTGTGTATCTG TGTGCATGTGCATGTGATGTGTGTATCTGTGTGTGCATATATCTGTGTGT GCATGTGTGTATCTGTGTGTGCATATGTGTATCTGCATATGTGCATGTAT CTATGTGTGCATGTGTGTCTGTGTGTGCATGTGCATGTATCTGTGCATGT GCATGTATCTGTGCATGTGTGTATCTGTGTGCATGTGCACGTGGTATCTG GGTGTGTGCATGTGTGTGCATGTGTGTATCTGTGTGTGCATATGTGTATC TGTGTGTGCATGTGTGTATCTGTGTGTGTGCATGTGTATATCTGTGTGTG CATGTGCGTATCTGTGTTGTGCATGTGTGTATCTGTGTGTGTGCATGTGT GTATCTGTGTGTGCACGTGGTATCTGTGTGTGTGCATGTATCTGCGTGTG TGTATTCATGTGTGCATGTGTGTATCTGTGTGTACACATATCTGTGTGTG CATGTATCTGTGTGTGCACATGTGTGTATCTGTGTTTGCATGTGTGTATC TGTGTGTGTGCATGTGTGTATCTGTGTTGTGCATGTATCTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01192.hp2 HG01433.hp2 others(3): Show HG00280.hp2 HG01192.hp2 HG01433.hp2 HG01516.hp2 HG02040.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0002t0002 a0001c0002t0036 a0001c0003t0001	a0001c0001t0003g0058 a0001c0001t0005g0010 a0001c0001t0010g0046 others(3): Show a0001c0001t0003g0058 a0001c0001t0005g0010 a0001c0001t0010g0046 a0001c0002t0002g0085 a0001c0002t0036g0079 a0001c0003t0001g0048	6	39	0.1538	840	c.55+ others(859): Show c.55+201000_55+201001insCAGATACATGCACAACACAGATACAC ACATGCACACACACAGATACACACATGCAAACACAGATACACACATGTGC ACACACAGATACATGCACACACAGATATGTGTACACACAGATACACACAT GCACACATGAATACACACACGCAGATACATGCACACACACAGATACCACG TGCACACACAGATACACACATGCACACACACAGATACACACATGCACAAC ACAGATACGCACATGCACACACAGATATACACATGCACACACACAGATAC ACACATGCACACACAGATACACATATGCACACACAGATACACACATGCAC ACACATGCACACACCCAGATACCACGTGCACATGCACACAGATACACACA TGCACAGATACATGCACATGCACAGATACATGCACATGCACACACAGACA CACATGCACACATAGATACATGCACATATGCAGATACACATATGCACACA CAGATACACACATGCACACACAGATATATGCACACACAGATACACACATC ACATGCACATGCACACAGATACACACATGTGCACATGGATACACACATAT GCAGATACACATGCGCACACACAGATACCACATGCACACAGATACATGCA CACACACAGCTACATGCACATACACAGATACACACATTCACACACAGACA CATACATGCACACAGTGATACACACATGCACACATACAGATATACACATG CACATGCACACAGATACACACATGCACACAGATACACACATGCACACACA GAGATACACACATGCACACACACATACACACATGCACATGCCTACAGGTA CACACATGCACACA		KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16						chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126799454	C C	CTGTGTGT others(833): Show CTGTGTGTATGTGTGTACCTGTAGGCATGTGCATGTGTGTATGTGTGTGT GCATGTGTGTATCTCTCTGTGTGCATGTGTATATCTGTGTGCATGTGTGT ATCTGTGTGCATGTGCATGTGTATATCTGTATGTGTGCATGTGTGTATCA CTGTGTGCATGTATGTGTCTGTGTGTGAATGTGTGTATCTGTGTATGTGC ATGTAGCTGTGTGTGTGCATGTATCTGTGTGCATGTGGTATCTGTGTGTG CGCATGTGTATCTGCATATGTGTGTATCCATGTGCACATGTGTGTATCTG TGTGCATGTGCATGTGATGTGTGTATCTGTGTGCATATATCTGTGTGTGC ATGTGTGTATCTGTGTGTGCATATGTGTATCTGCATATGTGCATGTATCT ATGTGTGCATGTGTGTGTCTGTGTGTGCATGTGCATGTATCTGTGCATGT GCATGTATCTGTGCATGTGTGTATCTGTGTGCATGTGCACGTGGTATCTG GGTGTGTGCATGTGTGTGCATGTGTGTGCATGTGTGTGCATATGTGTATC TGTGTGTGCATGTGTGTATCTGTGTGTGTGCATGTGTATATCTGTGTGTG CATGTGCGTATCTGTGTTGTGCATGTGTGTATCTGTGTGTGTGCATGTGT GTATCTGTGTGTGCACGTGGTATCTGTGTGTGTGCATGTATCTGCGTGTG TGTATTCATGTGTGCATGTGTGTATCTGTGTGTACACATATCTGTGTGTG CATGTATCTGTGTGTGCGCATGTGTGTATCTGTGTTTGCATGTGTGTATC TGTGTGTGTGCATGTGTGTATCTGTGTTGTGCATGTATCTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03225.hp2 HG03579.hp1 HG02723.hp2 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0002t0008 a0001c0001t0004 a0001c0002t0004 a0001c0002t0008	a0001c0001t0004g0073 a0001c0002t0004g0076 a0001c0002t0008g0103 a0001c0001t0004g0073 a0001c0002t0004g0076 a0001c0002t0008g0103	3	36	0.0833	840	c.55+ others(859): Show c.55+201000_55+201001insCAGATACATGCACAACACAGATACAC ACATGCACACACACAGATACACACATGCAAACACAGATACACACATGCGC ACACACAGATACATGCACACACAGATATGTGTACACACAGATACACACAT GCACACATGAATACACACACGCAGATACATGCACACACACAGATACCACG TGCACACACAGATACACACATGCACACACACAGATACACACATGCACAAC ACAGATACGCACATGCACACACAGATATACACATGCACACACACAGATAC ACACATGCACACACAGATACACATATGCACACACATGCACACACATGCAC ACACATGCACACACCCAGATACCACGTGCACATGCACACAGATACACACA TGCACAGATACATGCACATGCACAGATACATGCACATGCACACACAGACA CACACATGCACACATAGATACATGCACATATGCAGATACACATATGCACA CACAGATACACACATGCACACACAGATATATGCACACAGATACACACATC ACATGCACATGCACACAGATACACACATGTGCACATGGATACACACATAT GCAGATACACATGCGCACACACAGATACCACATGCACACAGATACATGCA CACACACAGCTACATGCACATACACAGATACACACATTCACACACAGACA CATACATGCACACAGTGATACACACATGCACACATACAGATATACACATG CACATGCACACAGATACACACATGCACACAGATATACACATGCACACAGA GAGATACACACATGCACACACACATACACACATGCACATGCCTACAGGTA CACACATACACACA		KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16						chr11	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(833): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTG AGGGTGATGATGGTGGGGGTAATGACGGTGGGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGATGATGGTGGG GGTGATGACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGGGGGTGGG GGTGGGGGTGGGGGTGAGGGTGATGATGGTGGGGGTGATGATGGTGATGG TGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTG GGGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGATGGTGAG GGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGATGGTGGGGGTGG GGGTGGGGGTAATGACGGTGGGGTGGGGGTAATGACGGTGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0137 a0004c0004t0001g0137	1	31	0.0323	840	c.956 others(857): Show c.956+1962_956+1963insCCACCGTCATTACCCCCACCCCACCGTC ATTACCCCCACCCCCACCCCCACCATCACCCCCACCCCCACCATCACCCC CACCATCATCACCCTCACCATCATCACCCCCACCATCACCGTCATCACCC CCACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCACC ATCATCACCCCCACCATCACCATCATCACCCCCACCATCATCACCCTCAC CCCCACCCCCACCCCCACCCCCACCATCATCACCTCTACCATCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCGCCAT CACCGTCATCACCCCCACCATCATCGTCATCACCCCCACCATCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCACCGTCATTACCCCCA CCATCATCACCCTCACCATCATCACCCCCACCCCCACCATCATCACCCCC ACCATCACCATCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCAC CGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCA CCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACA TCACCGTCATCACCCCCCCACCCCCATCATCACCGTCATCACCCCTCCAC CCCCATCATCACCGTCATCACCCCCACCATCATCACCCCCAGCCCCACCG TCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCATCACCACC CCCACCCCCACC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79						chr20	TogoVar
LARS1_chr5_146108034_146187650	146174557	T T	TATATATA others(833): Show TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATATCCATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATCCATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATCCATATATATATA TATCCATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0222 a0002c0002t0002g0222	1	279	0.0036	840	c.126 others(857): Show c.126-1784_126-1783insGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATATGGATATATATAT GGATATATATATATATGGATATATATATATGGATATATATATATATGGAT ATATATATGGATATATATATATATGGATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATGGATATATATATGGATATATATATATGGATAT ATATATATATGGATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATATGG ATATATATATGGATATATATATATATGGATATATATATATGGATATATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATGGATATAT ATATATATATGGATATATATATATGGATATATATATATATGGATATATAT ATATATGGATATATATATATATGGATATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATATGGATATATATATAT GGATATATATAT		LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31						chr5	TogoVar
LMF1_chr16_848634_975984	859506	C C	CAGTGGTG others(833): Show CAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGATGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGATGTCACGG GACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTG TGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGA GTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGAGACGGGTGTGCAGTG ATGTCTCGGGACGGGTGTGCACTGATGTCACGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGAGTGATGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACG GGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTG TGAGTGGTGTCACGGGACGGGTGTGCAGTGGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGACTGGTGTCTCGGGACGGTTGTGCAGTGG TGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	283	0.0035	840	c.153 others(859): Show c.1530-4801_1530-4800insCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTGCACAACCGTCCCGAGACACCAGTCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACCACTGCACACCCGTC CCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGT GACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGAC ATCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACATCAGTGCACA CCCGTCCCGAGACATCACTGCACACCCGTCTCGAGACACCACTCACACCC GTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCC CGTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGT GACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACA CCACTCACACCCGTCCCGTGACATCACTGCACACCCGTCCCGTGACACCA CTCACACCCATCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTC ACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCAC ACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTGCACACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGT CCCGAGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LOC114841035_chr11_64236095_64249132	64237126	G G	GGAGAGGG others(833): Show GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAG AGGAGAGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGGAGAGGGAGGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGGAG AGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGAGG GAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGAGTGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGACAGACAGAGACAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	229	0.0044	840	c.-41 others(851): Show c.-4154_-4153insGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGG GAGAGGGAGAGGGAGAGGAGAGGAGAGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGGAGGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGTGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGACAGACAGAGA CAGACA		LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding					3968		chr11	TogoVar
LORICRIN_chr1_153254687_153267124	153256763	A A	ATATATAG others(833): Show ATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATAT AAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATAT GTATATAAAACTATATATAGTTATATGTATATAAAACTATATATAGTTAT ATGTATATAAAACTATAGTCATATATGTATATAAAACTATATACAGTCAT ATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAG TCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTAT ATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAA AACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCAT ATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAC AGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACT ATATAGTTATATATGTATATAAAACTATATAGTTATATATGTATATAAAA CTATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACT ATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAG TTATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATAT ATGTATGTAAAACTATATACAGTTATATATGTATGTAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0005 a0005c0008t0001g0005	1	409	0.0024	840	c.-29 others(851): Show c.-2994_-2993insTATATAGTCACATATGTATATAAAACTATATATA GTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTA TATATAGTCACATATGTATATAAAACTATATATAGTTATATGTATATAAA ACTATATATAGTTATATGTATATAAAACTATAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTA TATAAAACTATATAGTCATATATGTATATAAAACTATATACAGTCATATA TGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTA TATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATA TATGTATATAAAACTATATAGTTATATATGTATATAAAACTATATAGTTA TATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATA TATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATG TATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTATGTA AAACTATAGTTATATATGTATGTAAAACTATATACAGTTATATATGTATG TAAAAC		LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding					2923		chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364368	T T	TACACCCA others(833): Show TACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACTCACC CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCA CCCTTACATCTACCTCCACACCCACACTCACACCCACCCACCCTTACACC CACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACA CCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTA CACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCTTACA TCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTA CATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCT TACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACG CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCA CCCTTACATCTACCTCCACACCCACACTCACACCCACGCTTACATCTACC TCCACACCCACACTCACACTCATGCTTACATCTACCTCCACACCCACACT CACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACA CTCACACTCATGCTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACGCTTACATCTACCTCCACACCCACACTC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0261 a0001c0002t0004g0261	1	220	0.0045	840	c.129 others(859): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTTACACTCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACCCTTACACCCACGCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTC ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACGCTTACATCTACCTCCACACCCACACTCACACTCATGCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCT ACCTCCACACCCACACTCACACTCATGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCAC		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
MAGEC1_chrX_141898894_141914374	141905995	A A	ACTCCAGA others(833): Show ACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTT TCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAG TCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAG TCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTC CCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTA TTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCA CTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTT GAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTC CTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTA CTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCC TCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCA GAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCC GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGA ACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGT GAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTG AGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02109.hp2 HG02109.hp2	a0021 a0021	a0021c0018 a0021c0018	a0021c0018t0001 a0021c0018t0001	a0021c0018t0001g0002 a0021c0018t0001g0002	1	352	0.0028	840	c.661 others(847): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCA GTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGA GTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTT GCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTT AGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGG GTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCC ACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTT TGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCGCTCCTTCT CCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGT ACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTC CTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTC AGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGC CGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAG AA	p.Arg others(853): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heAlaGlnSerProLeuGlnIleProValSerProSerSerSerSerThr LeuLeuSerLeuPheGlnSerPheSerGluArgThrGlnSerThrPheGl uGlyPheAlaGlnSerSerLeuGlnIleProValSerProSerPheSerS erThrLeuValSerIlePheGlnSerSerProGluArgThrGlnSerThr PheGluGlyPheProGlnSerProLeuGlnIleProValSerSerSerSe rSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArgThrGlnS erThrPheGluGlyPheAlaGlnSerSerLeuGlnIleProValSerArg SerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGluArgTh rGlnSerThrPheGluGlyPheAlaGlnSerProLeuGlnIleProValS erProSerSerSerSerThrLeuLeuSerLeuPheGlnSerPheSerGlu ArgThrGlnSerThrPheGluGlyPheAlaGlnSerSerLeuGlnIlePr oValSerArgSerPheSerSerThrLeuLeuSerIlePheGlnSerSerP roGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(833): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCAC CAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC ACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACCCTCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAAC GCGCAGCCACCAGACAACCCACAGCCACCACACAACGCACAGCCACCAGA CAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCAC CAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAG CCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02647.hp2 HG03486.hp2 others(1): Show HG01167.hp2 HG02647.hp2 HG03486.hp2 NA18522.hp1	a0009 a0017 a0019 others(1): Show a0009 a0017 a0019 a0066	a0009c0009 a0017c0020 a0019c0017 others(1): Show a0009c0009 a0017c0020 a0019c0017 a0066c0094	a0009c0009t0036 a0017c0020t0010 a0019c0017t0015 others(1): Show a0009c0009t0036 a0017c0020t0010 a0019c0017t0015 a0066c0094t0017	a0009c0009t0036g0246 a0017c0020t0010g0231 a0019c0017t0015g0247 others(1): Show a0009c0009t0036g0246 a0017c0020t0010g0231 a0019c0017t0015g0247 a0066c0094t0017g0232	4	86	0.0465	840	c.377 others(857): Show c.377-3834_377-3833insCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTGTGGTGGCTGTGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGAGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(833): Show AAGGGGGGAAGGGGGGAAGGAGGGGGGAAGGAGGGGGAAGGAGGGGGAAG GAGGGGGAAGGAGGGGGGAAGGAGGAAGGCGGAAAGGGGAGGGGAGAAGG GGAGGGGCAGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGC GGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTG GGGGGAAGGGGGAAGGGGAAAGGTGGGGGGAAGGGGGGAAGGGGGAAAGG GGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGG GGAAGGGGGTGAGGGGAGGATGGAGGGGGGAGGGGAGGGGGAGGGTGAGG GGAGGGGGAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGA GGGGGAGGGGAGGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGA GGGGGGGAGGGGGAGGGGAGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAG GGGGGGAGGGGGGAGGGTGGAGGGGGGGGAGGGGGAGGGGAGGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGAGGGAGGGA AGGGAGGGGGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAG GGGAGGGGGGGAGTGGAGGGGGGGAGGGGGAGGGGGAGGGGATGGGAGTG GAGGGGGAGGGGGAGGGAGGAGGGATGGGGAGGGGGGAGGGGGAGGGAGG AGAGGGGAGGGGAGGGGGAGGGAGGAGGAGGGGGAGGGGGAGGGAAGGGA GGAGGGGGAGGGGGAGGGAGGGAGGAGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	8	0.1250	840	c.250 others(855): Show c.250+581_250+582insCCACCCTCCCTCCCCTCCTCCCTCCCTCCC CCTCCCCCTCCTCCCTTCCCTCCCCCTCCCCCTCCTCCTCCCTCCCCCTC CCCTCCCCTCTCCTCCCTCCCCCTCCCCCCTCCCCATCCCTCCTCCCTCC CCCTCCCCCTCCACTCCCATCCCCTCCCCCTCCCCCTCCCCCCCTCCACT CCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCC TCCCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCCTCCACCCTCC CCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCTCCCCTCC CCCTCCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCC TCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCTCCCCCTCCCCTCACCCTCCCCCTCCCCTCCCCCCTCCATCCTCCCCT CACCCCCTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCC TTCCCCCCACCCCTTTCCCCCTTCCCCCCTTCCCCCCACCTTTCCCCTTC CCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCC CCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCC CCTGCCCCTCCCCTTCTCCCCTCCCCTTTCCGCCTTCCTCCTTCCCCCCT CCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTCCTTCCCCC CTTCCCCCCT		MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10						chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(833): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCC TCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCT CCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0001 a0013c0023t0001	a0013c0023t0001g0139 a0013c0023t0001g0139	1	4	0.2500	840	c.114 others(859): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCC TCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTC CCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCC CCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTC CCCCCTCCTCCCCT		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144233382	A A	ACCCACCA others(833): Show ACCCACCATCAACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCAACC TTCCCTCCCCCGCAGCTCTGCACCCCACCATCCGCCTTCTCTCCCCCGCA GCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCC ACCATCCACCTTCCCTCTCCCACAGCTCCTGCACCCACCATCCACCTTCC CTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTC CTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATC CACCTTCTGTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCCC CCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGTA CCCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACC TTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCTCCCCCGCA GCTCCTGCACCCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCA CCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCT CTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCT CCTGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCA TCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTC CCCCGCAGCTCCTGCACCCCACTATCCACCTTCTCTCCCCCGCAGCTCCT GCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	134	0.0075	840	c.133 others(859): Show c.1339-5365_1339-5364insAACCTTCCCTCCCCCGCAGCTCCTGC ACCCACCATCAACCTTCCCTCCCCCGCAGCTCTGCACCCCACCATCCGCC TTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGC AGCTCCTGCACCCCACCATCCACCTTCCCTCTCCCACAGCTCCTGCACCC ACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCC CTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTC CTGCACCCACCATCCACCTTCTGTCCCCCGCAGCTCCTGCACCCCACCAT CCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCC CCGCAGCTCCTGTACCCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGC ACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACC TTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCCCCCGC AGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCC ACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTC TCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCTCCCCCGCAGCT CCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACC ATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACTATCCACCTTCTCT CCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCC TGCACCCCACCATC		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144233418	A A	ACCCACCA others(833): Show ACCCACCATCAACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCGC CTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCTCCCG CAGCTCCTGCACCCCACCATCCACCTTCCCTCTCCCACAGCTCCTGCACC CACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTC CCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCT CCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCAT CCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCC CCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGC ACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCAC CTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCG CAGCTCCTGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCC ACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTC TCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGC TCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCAC CATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCT CCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCTCCCCCGCAGCTCCT GCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp1 NA18522.hp1 HG02280.hp1 HG02572.hp1 NA18522.hp1	a0002 a0008 a0002 a0008	a0002c0004 a0002c0013 a0008c0012 a0002c0004 a0002c0013 a0008c0012	a0002c0004t0001 a0002c0013t0001 a0008c0012t0001 a0002c0004t0001 a0002c0013t0001 a0008c0012t0001	a0002c0004t0001g0023 a0002c0013t0001g0022 a0008c0012t0001g0024 a0002c0004t0001g0023 a0002c0013t0001g0022 a0008c0012t0001g0024	3	103	0.0291	840	c.133 others(859): Show c.1339-5329_1339-5328insAACCTTCCCTCCCCCGCAGCTCCTGC ACCCCACCATCCGCCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCA CCTTCTCTCTCCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCTCCC ACAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACC CACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTC CCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCT CCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCAT CCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCC CCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTG CACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCA CCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCTCCCCCG CAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCC CACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTT CTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAG CTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCAC CATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCT CCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCC TGCACCCCACCATC		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MUC4_chr3_195741771_195816929	195775965	C C	CCATACCT others(833): Show CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACAGTCATACCTTCCACATCCATACCTTC CACGGCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACGGTCATACCTTCCACGGCCATA CCTTCCACGGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCGCACCCTTACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACGGCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATA CCTTCCGCACCCATACCTTCCACAGTCATAACTTCCACAGTCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0165 a0008c0009t0002g0166 a0008c0009t0002g0165 a0008c0009t0002g0166	2	226	0.0088	840	c.129 others(861): Show c.12944-1661_12944-1660insACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGTTATGACTGTGGAA GGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTAAGGGTGCGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAA GGTATGACCGTGGAAGGTATGGCCGTGGAAGGTATGACCGTGGAAGGTAT GGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGCCGTGGAAGGTATGGATGTGGAAGGTATGACTGTGGAA GGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195775965	C C	CCATACCT others(833): Show CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACAGTCATACCTTCCACATCCATACCTTC CACGGCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACGGTCATACCTTCCACGGCCATA CCTTCCACGGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCGCACCCTTACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACGGCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATA CCTTCCGCACCCATACCTTCCACAGTCATAACTTCCACAGTCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0168 a0008c0009t0002g0168	1	225	0.0044	840	c.129 others(861): Show c.12944-1661_12944-1660insACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGTTATGACTGTGGAA GGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTAAGGGTGCGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAA GGTATGACCGTGGAAGGTATGGCCGTGGAAGGTATGACCGTGGAAGGTAT GGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGCCGTGGAAGGTATGGATGTGGAAGGTATGACTGTGGAA GGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195775965	C C	CCATACCT others(833): Show CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACAGTCATACCTTCCACATCCATACCTTC CACGGCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACGGTCATACCTTCCACGGCCATA CCTTCCACGGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCGCACCCTTACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATA CCTTCCGCACCCATACCTTCCACACCCATACCTTCCACGGCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATA CCTTCCGCACCCATACCTTCCACAGTCATAACTTCCACAGTCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0167 a0006c0008t0002g0167	1	225	0.0044	840	c.129 others(861): Show c.12944-1661_12944-1660insACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTG TGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGTTATGACTGTGGAA GGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGGTGTGGAA GGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTAT GGGTGCGGAAGGTATGGGTGCGGAAGGTAAGGGTGCGGAAGGTATGGGTG TGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAA GGTATGACCGTGGAAGGTATGGCCGTGGAAGGTATGACCGTGGAAGGTAT GGGTGTGGAAGGTAAGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTG TGGAAGGTATGGCCGTGGAAGGTATGGATGTGGAAGGTATGACTGTGGAA GGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GGGTGTGGAAGGTATG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
NFATC1_chr18_79390930_79534323	79532268	T T	TCGGCAGA others(833): Show TCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC TCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0178 a0002c0002t0003g0178	1	59	0.0169	840	c.46 others(851): Show c.4691_*4692insCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding					2946		chr18	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(833): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGGAG GGGAGGGGGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGA GGAGGGGGAGGAAGGGGAGGGAGGAGGGGAGGAGGGGGAGGGAGGAGGGG AGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGGAGG GGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAGGG GGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGA GGAGGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGAGGGGAGGGGAGG AGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGG AGGAAAGGAAGGGAGGGAAGGGGAGGGGAGGAGTGGAGAGGAGGATGAGG GGAGGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAG GGAGGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGAGGGGTGCGGGAGGG GAGGGGTGCGGGAGGGGAGGGTAAAGGAAGGGAGGGGAGGGTGGGGGAAG GGAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp1 HG02965.hp2 HG03195.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0172 a0001c0005t0001g0173 a0001c0005t0001g0172 a0001c0005t0001g0173	2	5	0.4000	840	c.279 others(855): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCTTCCCCCACCCTCCCCTCCCTTCCTTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTC TCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCC CTTCCTTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCCCCTCCCCTCCCCCCCTCC CCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCC TCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCT CCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCTCCCTCCCCTT CCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCC TCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCC CCCTTCCCCTCCCCCTTCCCCTCCCCTCCCCTTCCCCTCCCCTTCCCACC CCTCCCTTCTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTTCTCCCCCCTC CCCTCTCTTC		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29						chr1	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(833): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACACATATAACATATATGTATTACATATATGTATTACACATATAACATA TATGTATTACATATATGTATTACACATATAACATATATGTATTACATATA TGTATTACACATATAACATATATGTATTACATATATGTATTACACATATA ACATATATGTATTACATATATGTATTACACATATAACATATATGTATTAC ATATATGTAATACACATATAACATATATGTATTACATATATGTAATACAC ATATAACATATATGTATTACATATATGTAATACACATATAACATATATGT ATTACATATATGTAATACACATATAACATATATGTATTACATATATGTAA TACACATATAACATATATGTATTACATATATGTAATACACATATAACATA TATGTATTACATATATGTAATACACATATAACATATATGTATTACATATA TGTAATACACATATAACATACATGTATTACATATATGTAATACACATATA ACATATATGTATTACATATATGTAATACATATATAACATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	122	0.0082	840	c.70 others(851): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACACATATAACATATATGTATTACATATATGTAT TACACATATAACATATATGTATTACATATATGTATTACACATATAACATA TATGTATTACATATATGTATTACACATATAACATATATGTATTACATATA TGTATTACACATATAACATATATGTATTACATATATGTATTACACATATA ACATATATGTATTACATATATGTAATACACATATAACATATATGTATTAC ATATATGTAATACACATATAACATATATGTATTACATATATGTAATACAC ATATAACATATATGTATTACATATATGTAATACACATATAACATATATGT ATTACATATATGTAATACACATATAACATATATGTATTACATATATGTAA TACACATATAACATATATGTATTACATATATGTAATACACATATAACATA TATGTATTACATATATGTAATACACATATAACATACATGTATTACATATA TGTAATACACATATAACATATATGTATTACATATATGTAATACATATATA ACATAC		PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding					3166		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(833): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	182	0.0055	840	c.-26 others(851): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTA TCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(833): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCTGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0053 a0001c0020t0001g0053	1	218	0.0046	840	c.129 others(857): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAA		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17						chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(833): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCTGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCTGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0140 a0001c0001t0004g0140	1	218	0.0046	840	c.129 others(857): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCAGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTG AGTAGATCCGAA		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17						chr7	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(833): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTT CCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCC CCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTC TCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCT TCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTC CTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCC TTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	67	0.0149	840	c.306 others(859): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCC TTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCC CTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTC TCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCT CCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCC CTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTC TCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTCCC CTTCTCTCCTCCCC		PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
PROZ_chr13_113153648_113177386	113161882	G G	GTCCCCCC others(833): Show GTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCC ACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCC ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACCTCCCCTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCC CCTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGT TCCCCCATCCTCCTCCCGCTCAGGTCCCCGTCCCTGCCACC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	272	0.0037	840	c.259 others(855): Show c.259+915_259+916insCCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCT CCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGG TCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC CTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACCTCCCCTCATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCC ACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCC CCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACGTTCCCCCATCCTCCTCCCGCTCAGGTCCCCGTCCCTG CCACCTCCCC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162008	C C	CTCCCCCC others(833): Show CTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCC ACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCC ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCC TCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGT CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	337	0.0030	840	c.260 others(855): Show c.260-998_260-997insCCCCATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC GTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCC ACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTC ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACGTCC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
PROZ_chr13_113153648_113177386	113162428	C C	CTCCTCAC others(833): Show CTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCC ACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCC ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACGTCCCCACATCCTCCTCCTGCTCAGCTCCCCGTCCCTGCCACGTCC CCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCT CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	323	0.0031	840	c.260 others(855): Show c.260-578_260-577insTCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC GTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCC ACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCC ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGCTCCC CGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACGTCC		PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(833): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATATGTAATACATTATACATTATTATATAAGTATATGTAATACAT TATACATTATTATATAAGTATATGTAATATATATTATACATTATTATATA AGTATATGTAATATATATTATACATTATTATATAAGCATATAATATATAA TACATAATACATTATATATAAGCATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	19	0.0526	840	c.24+ others(857): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATATGTAATACATTATACATTATT ATATAAGTATATGTAATACATTATACATTATTATATAAGTATATGTAATA TATATTATACATTATTATATAAGTATATGTAATATATATTATACATTATT ATATAAGCATATAATATATAATACATAATACATTATATATAAGCATATAA CAATACATAATA		RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4						chr5	TogoVar
RASGEF1C_chr5_180095795_180214211	180134844	C C	CCATCCAC others(833): Show CCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCC ACCCACCCACCCATCCACCTTCCCCTCCATCTATTCACCCATCCACCCAC CCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCC CTCCATCTATTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCAT CTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTATTC ACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTATTCACCCAT CCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCC ACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCAC CCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCC ACCTTCCCCTCCATCTATTCACCCATCCACCCACCCACCCATCCACCTTC CCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCC ATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTAT TCACCCATCCACCCACCCACCCATCTACCTTTCTCTCCACCTATTCACCC ATCCACCCACCCACCCATCTACCTTCCTCTCCATCTATTCAACTATCCAC CCACCCACCCACCTATCCACTTTCCCCTCCATCTATTCAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02602.hp2 HG03209.hp2 others(1): Show HG01192.hp1 HG02602.hp2 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0005 a0001c0003t0059 a0001c0008t0004 a0001c0003t0005 a0001c0003t0059 a0001c0008t0004	a0001c0003t0005g0173 a0001c0003t0005g0224 a0001c0003t0059g0065 others(1): Show a0001c0003t0005g0173 a0001c0003t0005g0224 a0001c0003t0059g0065 a0001c0008t0004g0180	4	5	0.8000	840	c.438 others(857): Show c.438+1533_438+1534insTTTGAATAGATGGAGGGGAAAGTGGATA GGTGGGTGGGTGGGTGGATAGTTGAATAGATGGAGAGGAAGGTAGATGGG TGGGTGGGTGGATGGGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTG GGTGGATGGGTGAATAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGA TGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTG AGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAATAGA TGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGG GGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGG TGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATG GGTGGGTGGGTGGATGGGTGAATAGATGGAGGGGAAGGTGGATGGGTGGG TGGGTGGATGGGTGAATAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTG GATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGG TGAATAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTA GATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGA GGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAA GGTGGATGGGTGGGTGGGTGGATGGGTGAATAGATGGAGGGGAAGGTGGA TGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTG GGTGGGTGGATG		RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13						chr5	TogoVar
RIMBP2_chr12_130391133_130721299	130392436	C C	CGTGTCCA others(833): Show CGTGTCCATCAGTTACCTGTTGAATATTGAATATTGTGATGACCCAGTCA CCATCATCACGTGTGTCTGTCAGTTACCTGGTGAATATTGAATGTTGTGA TGACCCGGTGACCGTCATCACGTGTGTGTGTCAGTTACCTGTTGAATATT GAATATTGTGATGACCCAGTCACCATCATCACGTGTGTCTGTCAGTTACC TGGTGAATATTGAATGTTGTGAGGACCCAGTCACCGTCATCACATGTGTC CGTCAGTTACCTGGTGAATATTGAATATTGTGATGACCCAGTCACCGTCA TCACATGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGAGGACCC GGTCACCGTCATCACGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTG TGATGACCCGGTCACCGTCATCACGTGTCCGTCAGTTACCTGGTGAGTAT TGAATGTTGTGAGGACCCGGTCACCGTCATCACGTGTGTGTGTCAGTTAC CTGGTGAATGTTGAATGTTGTGAGGACCCGGTCACCGTCATCACGTGTCC GTCAGTTACCTGGTGAGTATTGAACGTTGTGATGACCCGGTCACCGTCAT CACGTGTCCGTCAGTTACCTGGTGAATATTGAACGTTGTGAGGACCCGGT CACCGTCATCACGTGTCTGTCAGTTACCTGGTGAATATTGAATGTTGTGA TGACCCAGTCACCGTCATCACGTGTCCGTCAGTTACCTGGTGAATGTTGA ATGTTGTGAGGACCCGGTCACCGTCATCACGTGTCTGTCAGTTACCTGTT GAATATTGAATATTGTGATGACCCAGTCACCATCATCACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01891.hp1 HG01978.hp1 others(5): Show HG01346.hp1 HG01891.hp1 HG01978.hp1 HG01981.hp1 HG02451.hp2 HG03540.hp1 HG06807.hp1 NA21309.hp1	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0021 a0001c0022 a0002c0010 a0017c0047	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0021t0001 a0001c0022t0001 a0002c0010t0001 a0017c0047t0001	a0001c0001t0001g0119 a0001c0003t0001g0148 a0001c0004t0001g0020 others(5): Show a0001c0001t0001g0119 a0001c0003t0001g0148 a0001c0004t0001g0020 a0001c0006t0001g0061 a0001c0021t0001g0014 a0001c0022t0001g0101 a0002c0010t0001g0131 a0017c0047t0001g0013	8	118	0.0678	840	c.49 others(851): Show c.4924_*4925insACGTGATGATGGTGACTGGGTCATCACAATATTC AATATTCAACAGGTAACTGACAGACACGTGATGACGGTGACCGGGTCCTC ACAACATTCAACATTCACCAGGTAACTGACGGACACGTGATGACGGTGAC TGGGTCATCACAACATTCAATATTCACCAGGTAACTGACAGACACGTGAT GACGGTGACCGGGTCCTCACAACGTTCAATATTCACCAGGTAACTGACGG ACACGTGATGACGGTGACCGGGTCATCACAACGTTCAATACTCACCAGGT AACTGACGGACACGTGATGACGGTGACCGGGTCCTCACAACATTCAACAT TCACCAGGTAACTGACACACACACGTGATGACGGTGACCGGGTCCTCACA ACATTCAATACTCACCAGGTAACTGACGGACACGTGATGACGGTGACCGG GTCATCACAACATTCAATATTCACCAGGTAACTGACGGACACGTGATGAC GGTGACCGGGTCCTCACAACATTCAATATTCACCAGGTAACTGACGGACA CATGTGATGACGGTGACTGGGTCATCACAATATTCAATATTCACCAGGTA ACTGACGGACACATGTGATGACGGTGACTGGGTCCTCACAACATTCAATA TTCACCAGGTAACTGACAGACACACGTGATGATGGTGACTGGGTCATCAC AATATTCAATATTCAACAGGTAACTGACACACACACGTGATGACGGTCAC CGGGTCATCACAACATTCAATATTCACCAGGTAACTGACAGACACACGTG ATGATGGTGACTGGGTCATCACAATATTCAATATTCAACAGGTAACTGAT GGACAC		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding					3696		chr12	TogoVar
RIN2_chr20_19753258_20007456	19924228	C C	CATACTCC others(833): Show CATACTCCCACCTTCATACCCTCACCTTCATACCTCACTTCTTCATACCC TCACCTTCATACCCCACCTCTTCATACCCCCACCTTCACACCCTCACCTT CATACCCTCACCTTCATACCCCCACCTTCGTACCCCCACCTTCATACCCC ACCTTCATACACCCACCTTCATACCCCACCTTCATACCCCACCTTCATAC CCTCACCTTCATACCCTCACCTCCATACCCTCACCTCCATACCTCACCTT CCTACCCCCACCTTCATACCCCCACCTTCATAACCTCACCTTCATACCCC CACCTTCATACCCCACCTTCATACCCTCACCTTCATACCCCCACCTTCAT ACCCCACCTTCATACCCTCACCTCCATAACCTCACCTCCATACCCCACCT TCCTACCCCCACCTTCATACCCTCACCTTCATACCCCCACCTTCATACCC CACCTCTTCATACCCTCACCTTCATACCCCACCTCTTCATACCCCACCTC TTCATACCCCCACCTTCATACCCCCACCTTCATACCCTCACCTTCATACC CCCACCTTCATACCCTCACCTTCATACCCCACCTCCATACCCCACCTTCA TACCCCCACCTTCATATCCCTACCTTCATACTCCCACCTTCATACTCCCA CCTTTTCATACCCCACCTCTTCATACCCCACCTCTTCATACCCCATCTTC ATACCCCTACCTTCATACTCCCACCTCTTCATACCCCCACCTTCATACTC CCACCTTCATACCCCACCTCTTCATACCCCCAACTTCATACCCCACCTTC ATACTCCACCTCTTCATACCCCATCTTCATACCCCTACCTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0159 a0001c0001t0009g0159	1	253	0.0040	840	c.58- others(857): Show c.58-10871_58-10870insATACTCCCACCTTCATACCCTCACCTTC ATACCTCACTTCTTCATACCCTCACCTTCATACCCCACCTCTTCATACCC CCACCTTCACACCCTCACCTTCATACCCTCACCTTCATACCCCCACCTTC GTACCCCCACCTTCATACCCCACCTTCATACACCCACCTTCATACCCCAC CTTCATACCCCACCTTCATACCCTCACCTTCATACCCTCACCTCCATACC CTCACCTCCATACCTCACCTTCCTACCCCCACCTTCATACCCCCACCTTC ATAACCTCACCTTCATACCCCCACCTTCATACCCCACCTTCATACCCTCA CCTTCATACCCCCACCTTCATACCCCACCTTCATACCCTCACCTCCATAA CCTCACCTCCATACCCCACCTTCCTACCCCCACCTTCATACCCTCACCTT CATACCCCCACCTTCATACCCCACCTCTTCATACCCTCACCTTCATACCC CACCTCTTCATACCCCACCTCTTCATACCCCCACCTTCATACCCCCACCT TCATACCCTCACCTTCATACCCCCACCTTCATACCCTCACCTTCATACCC CACCTCCATACCCCACCTTCATACCCCCACCTTCATATCCCTACCTTCAT ACTCCCACCTTCATACTCCCACCTTTTCATACCCCACCTCTTCATACCCC ACCTCTTCATACCCCATCTTCATACCCCTACCTTCATACTCCCACCTCTT CATACCCCCACCTTCATACTCCCACCTTCATACCCCACCTCTTCATACCC CCAACTTCATACCCCACCTTCATACTCCACCTCTTCATACCCCATCTTCA TACCCCTACCTT		RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12						chr20	TogoVar
RIN2_chr20_19753258_20007456	19924228	C C	CATACTCC others(833): Show CATACTCCCACCTTCATACCCTCACCTTCATACCTCACTTCTTCATACCC TCACCTTCATACCCCACCTCTTCATACCCCCACCTTCACACCCTCACCTT CATACCCTCACCTTCATACCCCCACCTTCGTACCCCCACCTTCATACCCC GCCTTCATACACCCACCTTCATACCCCACCTTCATACCCCACCTTCATAC CCTCACCTTCATACCCTCACCTCCATACCCTCACCTCCATACCTCACCTT CCTACCCCCACCTTCATACCCCCACCTTCATAACCTCACCTTCATACCCC CACCTTCATACCCCACCTTCATACCCTCACCTTCATACCCCCACCTTCAT ACCCCACCTTCATACCCTCACCTCCATAACCTCACCTCCATACCCCACCT TCCTACCCCCACCTTCATACCCTCACCTTCATACCCCCACCTTCATACCC CACCTCTTCATACCCTCACCTTCATACCCCACCTCTTCATACCCCACCTC TTCATACCCCCACCTTCATACCCCCACCTTCATACCCTCACCTTCATACC CCCACCTTCATACCCTCACCTTCATACCCCACCTCCATACCCCACCTTCA TACCCCCACCTTCATATCCCTACCTTCATACTCCCACCTTCATACTCCCA CCTTTTCATACCCCACCTCTTCATACCCCACCTCTTCATACCCCATCTTC ATACCCCTACCTTCATACTCCCACCTCTTCATACCCCCACCTTCATACTC CCACCTTCATACCCCACCTCTTCATACCCCCAACTTCATACCCCACCTTC ATACTCCACCTCTTCATACCCCATCTTCATACCCCTACCTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	253	0.0040	840	c.58- others(857): Show c.58-10871_58-10870insATACTCCCACCTTCATACCCTCACCTTC ATACCTCACTTCTTCATACCCTCACCTTCATACCCCACCTCTTCATACCC CCACCTTCACACCCTCACCTTCATACCCTCACCTTCATACCCCCACCTTC GTACCCCCACCTTCATACCCCGCCTTCATACACCCACCTTCATACCCCAC CTTCATACCCCACCTTCATACCCTCACCTTCATACCCTCACCTCCATACC CTCACCTCCATACCTCACCTTCCTACCCCCACCTTCATACCCCCACCTTC ATAACCTCACCTTCATACCCCCACCTTCATACCCCACCTTCATACCCTCA CCTTCATACCCCCACCTTCATACCCCACCTTCATACCCTCACCTCCATAA CCTCACCTCCATACCCCACCTTCCTACCCCCACCTTCATACCCTCACCTT CATACCCCCACCTTCATACCCCACCTCTTCATACCCTCACCTTCATACCC CACCTCTTCATACCCCACCTCTTCATACCCCCACCTTCATACCCCCACCT TCATACCCTCACCTTCATACCCCCACCTTCATACCCTCACCTTCATACCC CACCTCCATACCCCACCTTCATACCCCCACCTTCATATCCCTACCTTCAT ACTCCCACCTTCATACTCCCACCTTTTCATACCCCACCTCTTCATACCCC ACCTCTTCATACCCCATCTTCATACCCCTACCTTCATACTCCCACCTCTT CATACCCCCACCTTCATACTCCCACCTTCATACCCCACCTCTTCATACCC CCAACTTCATACCCCACCTTCATACTCCACCTCTTCATACCCCATCTTCA TACCCCTACCTT		RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12						chr20	TogoVar
RNF223_chr1_1065967_1079306	1078446	G G	GGCTGAGG others(833): Show GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGCACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCT ATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGA GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTC CATCGGGGGAGGCTGAGGCTAGGGGGACTCCGTCGGGGGAGGCTGAGGCT ATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGA GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTC CGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGT GGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTC CGTGGCGGGAGGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCT ATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGT GGCTGTGGCTATGGGGACTCCGTGCCGGGTGGCTGTGGCTATGGGGACTC CGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGA GGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0030 a0002c0003t0001g0030	1	244	0.0041	840	c.-44 others(851): Show c.-4441_-4440insGTCCCCCCACGGAGTCCCCATAGCCTCAGCGTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGC CTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCC CGGCACGGAGTCCCCATAGCCACAGCCACCCGGCACGGAGTCCCCATAGC CACAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAG TCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGCCTCAGCCTCC CGCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGC CTCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGC CTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCAACGGAG TCCCCATAGCCTCAGCCTCCCCCGACGGAGTCCCCCTAGCCTCAGCCTCC CCCGATGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGC CTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTGCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGC CTCAGC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					4141		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078446	G G	GGCTGAGG others(833): Show GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCATCGGGGGAGGCTGAGGCTAGGGGGACTC CGTCGGGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGA GGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCT ATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGA GGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGGGACTC CGTGGCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCT ATGGGGACTCCGTGCGGGGTGGCTGTGGCTATGGGGACTCCGTGCCGGGT GGCTGTGGCTATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTC CGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGA GGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	244	0.0041	840	c.-44 others(851): Show c.-4441_-4440insGTCCCCCCACGGAGTCCCCATAGCCTCAGCGTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGC CTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCC CGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCATAGC CACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CGCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGC CTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAG TCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCTCCCCCGACGGAGTCCCCATAGCCTCAGCCTCC CCCGACGGAGTCCCCCTAGCCTCAGCCTCCCCCGATGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGC CTCAGC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					4141		chr1	TogoVar

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