Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MBD3L3_chr19_7051207_7063676	7061870	T T	TATAATAT others(581): Show TATAATATATAATTATATTCTATATAGAATATAATTATATAATATATAAT TATATTATATATTATATAATTATAATATAATTATATAATATAATTATATT ATATAATTATAATATAATTATATAATATAATTATATTATATATAATTATA TTAAATATATTATATAATATATAATTATATTATATATTATATAATATATA ATTATATTATATATTATATAATATATAATTATATTATATATTATATAATA TATAATTATATTATATATTATAATACATTTAATATAATTATATTATAGAT TATAATCTATAATATAATTATATTAATAGTATTATAATATATAATATATT ATATATAATTATATTATAACATATTATATATAATTATATTATAGATCATA ATCTATAATATAATTATATATAATATGTTATAATATATAATTATATTCTA TATATAATTATATATAATATAATTATATTCTGTATATAATTATATATAAT ATAATTATATTCTGTATATAATTATATATAATTATATTCTATATATAATA TAATTATATATAATTATATACAGAATATAATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG01168.hp1 others(3): Show HG01074.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp1 HG02683.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	262	0.0229	588	c.-32 others(599): Show c.-3266_-3265insTATATATAATTATATTCTGTATATAATTATATAT AATTATATTATATATAGAATATAATTATATATAATTATATACAGAATATA ATTATATTATATATAATTATATACAGAATATAATTATATTATATATAATT ATATATAGAATATAATTATATATTATAACATATTATATATAATTATATTA TAGATTATGATCTATAATATAATTATATATAATATGTTATAATATAATTA TATATAATATATTATATATTATAATACTATTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAAATGTATTATAATATATAATATAA TTATATATTATATAATATATAATATAATTATATATTATATAATATATAAT ATAATTATATATTATATAATATATAATATAATTATATATTATATAATATA TTTAATATAATTATATATAATATAATTATATTATATAATTATATTATAAT TATATAATATAATTATATTATATAATTATATTATAATTATATAATATATA ATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATA TTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3195		chr19	TogoVar
MELTF_chr3_196996740_197034817	197030146	G G	GCACAGCT others(581): Show GCACAGCTGCACAGAGGATCTGGGATACGGGGGAGCCCAGGCCGAGCGCC CTGGCGAGGGGGGAGCCGGGCAGGGGCACCTCGGCCACAGCTGCACAGAG GATCTGGGATACGGGGGAGCCCAGGCCGAGCGCCCTGGCGAGGGGGGAGC CGGGCAGGGGCATCTCGGCCACAGCTGCACAGAGGATCTGGGATACAGGG GAGCCCAGGCCGAGCGCCCTGGCGAGGGGGGAGCCGGGCAGGGGCATCTC GGCCACAGCTGCACAGAGGATCTGGGATACGGGGGAGCCCAGGCCGAGCG CCCTGGCGAGGGGGGAGCCGGGCAGGGGCATCTCGGCCACAGCTGCACAG AGGATCTGGGATACGGGGGAGCCCAGGCCGAGCGCCCTGGCGAGGGGGGA GCCGGGCAGGGGCATCTCGGCCACAGCTGCACAGAGGATCTGGGATACGG GGGAGCCCAGGCCGAGGGCCCTGGCGAGGGGGGAGCCGGGCAGGGGCATC TCGGCCACAGCTGCACAGAGGATCTGGGATACGGGGGAGCCCAGGCCGAG CGCCCTGGCGAGGGGGGAGCCGGGCAGGGGCATCTCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0303 a0001c0001t0006g0303	1	248	0.0040	588	c.-44 others(597): Show c.-445_-444insGCCGAGATGCCCCTGCCCGGCTCCCCCCTCGCCAGG GCGCTCGGCCTGGGCTCCCCCGTATCCCAGATCCTCTGTGCAGCTGTGGC CGAGATGCCCCTGCCCGGCTCCCCCCTCGCCAGGGCCCTCGGCCTGGGCT CCCCCGTATCCCAGATCCTCTGTGCAGCTGTGGCCGAGATGCCCCTGCCC GGCTCCCCCCTCGCCAGGGCGCTCGGCCTGGGCTCCCCCGTATCCCAGAT CCTCTGTGCAGCTGTGGCCGAGATGCCCCTGCCCGGCTCCCCCCTCGCCA GGGCGCTCGGCCTGGGCTCCCCCGTATCCCAGATCCTCTGTGCAGCTGTG GCCGAGATGCCCCTGCCCGGCTCCCCCCTCGCCAGGGCGCTCGGCCTGGG CTCCCCTGTATCCCAGATCCTCTGTGCAGCTGTGGCCGAGATGCCCCTGC CCGGCTCCCCCCTCGCCAGGGCGCTCGGCCTGGGCTCCCCCGTATCCCAG ATCCTCTGTGCAGCTGTGGCCGAGGTGCCCCTGCCCGGCTCCCCCCTCGC CAGGGCGCTCGGCCTGGGCTCCCCCGTATCCCAGATCCTCTGTGCAGCTG TG	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		330		chr3	TogoVar
MEX3D_chr19_1549672_1573325	1550069	C C	AACCCTCC others(581): Show AACCCTCCCATCCATCCACCCATCCATCCACCTGTCCACCCATCCACCCA TTCATCCACCCACCCACCCATCCATCCATCCATCCACCCATCCATTCACT CACCTGCCCATCCACCCATCCATTCACTCACCTGCCCATCCACCCATCCA TGCACTCACCTGCCTATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAATCATCCACCCACCCATCCATCCATCCATCCAACCA TCCACCCACTCATCTATCCATCCATCCATCCATCCATCCATCCATTTACC CACCCTCTCATCCATCCACCCACCCATCCACTTGTCCACCCATCCACCTG TTCACCCATCCACCCATCCATCCATCCATCCAACCATCCACCCATCTATC CATCCATCCATCCAACCACTCATCCGTCCATCCATCCATCCATCCATCCA TTTACCCACTCTCCCATCCACCCACCCATCGACTTGTCCACCCATACACC TGTTCACCCATCCACCCATCCATCCATCCATCCATCCAACCATCCACCCA TCCATCCATCCACCCATCCATCCATCCATCCATCCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0240 a0001c0001t0016g0240	1	239	0.0042	588	c.54 others(599): Show c.5494_*5495insGGTGGATGGATGGATGGATGGATGGGTGGATGGA TGGATGGGTGGATGGTTGGATGGATGGATGGATGGATGGGTGGATGGGTG AACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGGG TAAATGGATGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGATG GATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGGG TGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGAG GGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGATGAGTGGG TGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGGCAGGTGAG TGCATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGGCA GGTGAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGGGTGGGTGGA TGAATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGATGGATGGGAG GGTT	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4603		chr19	TogoVar
MFSD3_chr8_144504070_144516213	144513791	C C	CGTGGGGA others(581): Show CGTGGGGAGTGAGGAGGGGTCAGCGTGGGCGGTGGGGGAGTGAGGGAGGG GGTCGGCGTGGGCGGTGGGGAGTGAGGACGGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGTGGGCGGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGGGTGGGGAGTGAGGAGGGGTCGGGCTGG GCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGGTCGGCGGG TGGCGGTGGGGAGTGAGGAGGGGTCGGCGGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCTGGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGGCGGTGGGGAGTGAGGAGGGGTCG GCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	336	0.0030	588	c.26 others(599): Show c.2627_*2628insGTGGGGAGTGAGGAGGGGTCAGCGTGGGCGGTGG GGGAGTGAGGGAGGGGGTCGGCGTGGGCGGTGGGGAGTGAGGACGGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGT GGGCGGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGGGTGGGGAGTGAG GAGGGGTCGGGCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGGTCGGCGGGTGGCGGTGGGGAGTGAGGAGGGGTCGGCGGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCTGGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGGCGGTGGGG AGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTG GGCG	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2579		chr8	TogoVar
MTTP_chr4_99569824_99628997	99589024	T T	TGTATATT others(581): Show TGTATATTCATATATATATGTTCATATATATATTCATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATGTTC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0197 a0002c0002t0002g0197	1	350	0.0029	588	c.394 others(603): Show c.394-619_394-618insGTATATTCATATATATATGTTCATATATAT ATTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATGTTC	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(581): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0285 a0002c0002t0002g0285	1	165	0.0061	588	c.394 others(603): Show c.394-573_394-572insGTTCATGTATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(581): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0279 a0002c0002t0002g0279	1	165	0.0061	588	c.394 others(603): Show c.394-573_394-572insGTTCATGTATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(581): Show ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0275 a0002c0002t0002g0275	1	165	0.0061	588	c.394 others(603): Show c.394-608_394-607insTATATATATGTTCATATATATATTCATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(581): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0201 a0002c0002t0002g0201	1	165	0.0061	588	c.394 others(603): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(581): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0202 a0002c0002t0002g0202	1	165	0.0061	588	c.394 others(603): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(581): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18956.hp2 NA18963.hp1 HG04115.hp1 NA18956.hp2 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0183 a0002c0002t0002g0196 a0002c0002t0002g0292 a0002c0002t0002g0183 a0002c0002t0002g0196 a0002c0002t0002g0292	3	167	0.0180	588	c.394 others(603): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589062	T T	TATATATA others(581): Show TATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATGTTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18969.hp2 HG04228.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	2	362	0.0055	588	c.394 others(603): Show c.394-573_394-572insGTTCATGTATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
NOTCH1_chr9_136489433_136551048	136535614	G G	GGTGGGTC others(581): Show GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATG GGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAAT GGGTGCATGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCC CGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTC CCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCC TCCCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTC AGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACT CAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGATCA CTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG04204.hp1 others(1): Show HG00099.hp1 HG00099.hp2 HG04204.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0008 a0001c0001 a0001c0007 a0001c0008	a0001c0001t0006 a0001c0007t0005 a0001c0008t0005 a0001c0001t0006 a0001c0007t0005 a0001c0008t0005	a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0007t0005g0080 others(1): Show a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0007t0005g0080 a0001c0008t0005g0176	4	316	0.0127	588	c.140 others(605): Show c.140+8409_140+8410insTCCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGATCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCAC TCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCAC CCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCC ACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCC ACCATGCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCTCTCCACC CACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCAC CCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCC CCCGACCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NTM_chr11_131365615_132341822	132070111	G G	GTCACAGG others(581): Show GTCACAGGTTAGTTAACACGTCACACAGCCAAGTTAACACGTCAAACTGA CCGTCACAGGTTAGTTAACACGTCACACAGCCAAGTTAACACGTCAAACT GACCATCACAGGTTAGTTAACACGTCACACAGCCAAAACACATCAAACTG ACCATCACAGGTTAGTTAACGTGTCACACAGCCAAGTTAACACGTCAAAC TGACGATCACAGGTTAGTTTACACGTCACACAGCCAAAACACGTCAAACT GACCATCACAGGTTAGTTAACACGTCACACAGCCAAGTAAGTTAACACGT CAAACTGACCGTCACAGGTTAGTTAACACGTCACACAGCCAAGTTAACAC ATCACACAGCCAAGTTAACACGTCAAACTGACCGTCACAGGTTAGTTAAC ACGTCACACAGCCAAGTTAACACGTCAAACTGACCGTCACAGTTTAGTTA ACACGTCACACAGCCAAGTTAACACGTCAAACTGACCATCACAGGTTAGT TAACACGTCACACAGCCAAAACACGTCAAACTGACCACCACAGGTTAGTT AACACGTCACACAGCCAAGTTAGCACGTCAAACTGACCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	85	0.0118	588	c.168 others(607): Show c.168-76031_168-76030insATCAAACTGACCATCACAGGTTAGTT AACGTGTCACACAGCCAAGTTAACACGTCAAACTGACGATCACAGGTTAG TTTACACGTCACACAGCCAAAACACGTCAAACTGACCATCACAGGTTAGT TAACACGTCACACAGCCAAGTAAGTTAACACGTCAAACTGACCGTCACAG GTTAGTTAACACGTCACACAGCCAAGTTAACACATCACACAGCCAAGTTA ACACGTCAAACTGACCGTCACAGGTTAGTTAACACGTCACACAGCCAAGT TAACACGTCAAACTGACCGTCACAGTTTAGTTAACACGTCACACAGCCAA GTTAACACGTCAAACTGACCATCACAGGTTAGTTAACACGTCACACAGCC AAAACACGTCAAACTGACCACCACAGGTTAGTTAACACGTCACACAGCCA AGTTAGCACGTCAAACTGACCATCACAGGTTAGTTAACACGTCACACAGC CAAGTTAACACGTCAAACTGACCGTCACAGGTTAGTTAACACGTCACACA GCCAAGTTAACACGTCAAACTGACCATCACAGGTTAGTTAACACGTCACA CAGCCAAAACAC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(581): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTAT CTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	588	c.-26 others(599): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGA TAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGA TAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATC TATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(581): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTAT CTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	588	c.-26 others(599): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGA TAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGA TAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATC TATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(581): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	588	c.-26 others(599): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGA TAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGA TAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATC TATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PDCD6_chr5_266646_319974	309566	T T	TGTCCCCG others(581): Show TGTCCCCGTGTACCCCAGTGATGGCCGCCATCCCCGTGCACCCCAGTGAT GGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCC AGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTG CACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTC CCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCC GCCGTCCCCGTGCACACCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTG AGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACC CCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCG TGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCG TCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGG CCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAG TGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0268 a0001c0001t0005g0268	1	330	0.0030	588	c.368 others(605): Show c.368-1718_368-1717insTACCCCAGTGATGGCCGCCATCCCCGTG CACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTC CCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCC GCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTG ATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACC CCAGTGATGGCCGCCGTCCCCGTGCACACCAGTGATGGCCGCCGTCCCCG TGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCG TCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGG CCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAG TGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCA CCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCC CGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGC CGTCCCCGTG	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	318063	T T	TGCACCTC others(581): Show TGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCCTCACCCTG CACCTCCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCC CCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCAC CTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCA CCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTC CCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTCCC TCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCC CCTCCACGCCCCCTCACCTCCCCCCTCACCCTCCACCTCCCCCCGCACCC TGCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCC CCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCT CCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTC ACCTCCCCCCACCTTCCACCTCCCCCTCCACCTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	349	0.0029	588	c.35 others(599): Show c.3548_*3549insGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTC TCCCCCCTCACCCTGCACCTCCCCCCCTCCACTCCCCCTCACCTCCCCCC CACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTC CACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCT CCACCTCCCCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACC CTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCT CCCTCTCGCCCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTC ATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCTCACCCTCCA CCTCCCCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCCTT ACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCC TCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCC CCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCTCCACCTCC CCCC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3090		chr5	TogoVar
PIEZO1_chr16_88710338_88790220	88731928	C C	CGGGGTGT others(581): Show CGGGGTGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATGGGGATG CACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGA GGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGA TGCACTGAGTCTGGGGGAGGAGGGGGTGTGGGGATGCACTGAGTCTGGGG GGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGGGTGT GGGGATGCACTGAGTCTGGGGGGAGGGGGGGGTGTGGGGATGCACTGAGT CTGGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGG GGTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGGTGTGGGGATGCAC TGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGG GGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGCGTGGGGATGC ACTGAGTCTGGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGG AGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0049 a0049	a0049c0094 a0049c0094	a0049c0094t0001 a0049c0094t0001	a0049c0094t0001g0127 a0049c0094t0001g0127	1	265	0.0038	588	c.299 others(603): Show c.2992-19_2992-18insCCCCCTCCCCCAGACTCAGTGCATCCCCAC GCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCC AGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCC CCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCC CCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCCAGACTCAGTGCAT CCCCACACCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCC TCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCCAGACTCAG TGCATCCCCACACCCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCTCCTCCCCCAGA CTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCAC ACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCA GACTCAGTGCATCCCCATGCCCCGCCCTCTCCCCAGACTCAGTGCATCCC CACACCCC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PLEKHG4B_chr5_87168_194966	166250	G G	GCTCTGAC others(581): Show GCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCAC AGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGG GCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGG GGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTC TGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTA ATCTTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTC ACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCG GGGCTCACAGTAATCCTCTGACGGGGCGGGGCTCACACTAATGCTCTGAC GGGGCAGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCC TCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGACGGGGCTCACAC TAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGC TCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0111 a0001c0001t0016g0111	1	206	0.0049	588	c.347 others(607): Show c.3477-2796_3477-2795insAGCTCACACTAATGCTCTGACGGGGC GGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGA CGGGGCGGGGCTCACACTAATGCTCTGACGGGGCAGGGCTCACACTAATG CTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACA CTAATGCTCTGACGGGACGGGGCTCACACTAATGCTCTGACGGGGCGGGG CTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGG GCGGGGCTCACAGTAATCCTCTGACGGGGCGGGGCTCACACTAATGCTCT GACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAA TGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCA CAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGG AGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACG GGGCGGGGCTCACAGTAATCTTCTGACGGGGCGGAGCTCACACTAATGCT CTGACGGGGCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLE_chr12_132618762_132692342	132685164	C C	CACACCGT others(581): Show CACACCGTCCCAGTACTCCACACAGGCTTTCATTCACAGAGCTACCATTG ACTGGTTACTGTATCACACCGTCCCAGTACTACACACAGGCTCTCATTCA CAGAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCA CACAGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACA CCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCATTGAC TGGTTACTATATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACA GAGAGCTACCATTGACTGGTTACTATATCACACCGTCCCAGTACTCCACA CAGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACACC GTCCCAGTACTCCACACAGGCTCTCATTCACAGAGCTACCATTGACTGGT TACTATATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGC TACCATTGACTGGTTACTATATCACACCGTCCCAGTACTCCACACAGGCT CTCATTCACAGAGAGCTACCATTGACTGGTTACTATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02451.hp1 HG02559.hp1 others(4): Show HG01106.hp2 HG02451.hp1 HG02559.hp1 HG02630.hp2 HG02976.hp2 HG03579.hp1 HG06807.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0007 a0004c0007t0001g0156 a0004c0007t0001g0157 others(2): Show a0004c0007t0001g0007 a0004c0007t0001g0156 a0004c0007t0001g0157 a0004c0007t0001g0158 a0004c0007t0001g0159	7	169	0.0414	588	c.62+ others(603): Show c.62+2089_62+2090insTATATAGTAACCAGTCAATGGTAGCTCTCT GTGAATGAGAGCCTGTGTGGAGTACTGGGACGGTGTGATATAGTAACCAG TCAATGGTAGCTCTGTGAATGAGAGCCTGTGTGGAGTACTGGGACGGTGT GATATAGTAACCAGTCAATGGTAGCTCTGTGAATGAGAGCCTGTGTGGAG TACTGGGACGGTGTGATACAGTAACCAGTCAATGGTAGCTCTCTGTGAAT GAGAGCCTGTGTGGAGTACTGGGACGGTGTGATATAGTAACCAGTCAATG GTAGCTCTCTGTGAATGAGAGCCTGTGTGGAGTACTGGGACGGTGTGATA TAGTAACCAGTCAATGGTAGCTCTCTGTGAATGAGAGCCTGTGTGGAGTA CTGGGACGGTGTGATACAGTAACCAGTCAATGGTAGCTCTCTGTGAATGA GAGCCTGTGTGGAGTACTGGGACGGTGTGATACAGTAACCAGTCAATGGT AGCTCTCTGTGAATGAGAGCCTGTGTGTAGTACTGGGACGGTGTGATACA GTAACCAGTCAATGGTAGCTCTGTGAATGAAAGCCTGTGTGGAGTACTGG GACGGTGT	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	1/48			chr12	TogoVar
PRKCA_chr17_66297613_66815743	66798540	C C	CGGTGGTG others(581): Show CGGTGGTGGTGATGGTGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTG GTGGTGATGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGACGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGT GGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGACGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGACGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGATGATGGTGATGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGATGGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTAATGGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0080 a0001c0003t0080	a0001c0003t0080g0125 a0001c0003t0080g0125	1	92	0.0109	588	c.185 others(607): Show c.1855-5323_1855-5322insATGGTGGTGATGGTAATGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGT GGTGGTGACGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGACGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGACGGTGGT GACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGATGGTGATGGTG ATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTAATG GTGGTGGTGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2106627	C C	CTCAGCAA others(581): Show CTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCC AGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGT CACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTC CATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGC GAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTC CGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGC AGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGA CTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAG GCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGT GTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACC TCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGG GCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0072 a0001c0003t0001g0072	1	210	0.0048	588	c.335 others(607): Show c.335-28621_335-28620insCGGTGGGCGAGGACCTCCACACGTGT CACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTC CACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGC GAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCT CTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGC AAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGA CTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAG GCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCG TGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACC TCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGG GCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCC CTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTC AGCAAGCCCCTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123660	C C	CGGCTGTA others(581): Show CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCATCATGGTG GTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCATGGTGGTGGTTAGCG TCACGGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCATCATGGTGGT AGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCATGGTGGTGGTTAGCGTC ACGGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAG GGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02257.hp1 HG00639.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0257 a0001c0002t0002g0035 a0001c0001t0001g0257 a0001c0002t0002g0035	2	119	0.0168	588	c.335 others(607): Show c.335-11600_335-11599insCTGTAGTTAGGGTCATGGTGGTAGTT AGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGT AGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTGTAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTGGTTA GGGTCATGGTGGTGGTTAGCGTCACGGTGGTGGTTAGGTTCATGGTGGTA GTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGC TGTAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA TGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTGGTTAGG GTCATGGTGGTGGTTAGCGTCACGGTGGTGGTTAGGTTCATGGTGGTAGT TAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGG TTAGGTTCATGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PROZ_chr13_113153648_113177386	113162723	T T	TCCCCCCA others(581): Show TCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACA TCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCTCATCCTCCTC CTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCTCCTGCTCAG GTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGT CCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCA CCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCA CATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCTCC TCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTC AGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCC GTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGC CACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCC CTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0202 a0001c0002t0001g0202	1	234	0.0043	588	c.260 others(603): Show c.260-282_260-281insCCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGT CCCCTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCGCCCCACAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGG TCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC CGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACGTCCCCTCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCC ACCGCCCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PXMP2_chr12_132682587_132709985	132685164	C C	CACACCGT others(581): Show CACACCGTCCCAGTACTCCACACAGGCTTTCATTCACAGAGCTACCATTG ACTGGTTACTGTATCACACCGTCCCAGTACTACACACAGGCTCTCATTCA CAGAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCA CACAGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACA CCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCATTGAC TGGTTACTATATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACA GAGAGCTACCATTGACTGGTTACTATATCACACCGTCCCAGTACTCCACA CAGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACACC GTCCCAGTACTCCACACAGGCTCTCATTCACAGAGCTACCATTGACTGGT TACTATATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGC TACCATTGACTGGTTACTATATCACACCGTCCCAGTACTCCACACAGGCT CTCATTCACAGAGAGCTACCATTGACTGGTTACTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02451.hp1 HG02559.hp1 others(4): Show HG01106.hp1 HG02451.hp1 HG02559.hp1 HG02630.hp2 HG02976.hp1 HG03579.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0007 a0001c0001t0001g0032	7	224	0.0313	588	c.-25 others(599): Show c.-2507_-2506insACACCGTCCCAGTACTCCACACAGGCTTTCATTC ACAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGTACTACAC ACAGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACAC CGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCATTGACT GGTTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAG AGAGCTACCATTGACTGGTTACTATATCACACCGTCCCAGTACTCCACAC AGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTATATCACACCG TCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGG TTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAG CTACCATTGACTGGTTACTATATCACACCGTCCCAGTACTCCACACAGGC TCTCATTCACAGAGCTACCATTGACTGGTTACTATATCACACCGTCCCAG TACTCCACACAGGCTCTCATTCACAGAGAGCTACCATTGACTGGTTACTA TATA	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding		2422		chr12	TogoVar
RAB11FIP3_chr16_420649_528011	492428	C C	CGGGAGAC others(581): Show CGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCC TCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	247	0.0040	588	c.126 others(607): Show c.1265+3449_1265+3450insAGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGC CCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCC GAGGCCGCCCAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492455	T T	TCCCCGGG others(581): Show TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0165 a0001c0002t0002g0165	1	269	0.0037	588	c.126 others(607): Show c.1265+3455_1265+3456insCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504418	C C	CCTCACCT others(581): Show CCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCC TCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCT CACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTT GTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCCA CCTCCTCCTGTACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTAC CCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACC TCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCC CCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCC TTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCC TCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTG TACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTC ACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0267 a0001c0001t0003g0267	1	87	0.0115	588	c.139 others(607): Show c.1396-1105_1396-1104insTCACCTCCTCCTGTACCCCCTCACCT CCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCC TCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCT CACCTCCTCCTGTACCCCCCCACCTCCTCCTGTACCCCCTCACCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCA CCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTAC CCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCT CCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCC CTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCC TTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCC TCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTC CTGTACCCCCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGGA others(581): Show CGTGGGGAGTGAGGAGGGGTCAGCGTGGGCGGTGGGGGAGTGAGGGAGGG GGTCGGCGTGGGCGGTGGGGAGTGAGGACGGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGTGGGCGGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGGGTGGGGAGTGAGGAGGGGTCGGGCTGG GCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGGTCGGCGGG TGGCGGTGGGGAGTGAGGAGGGGTCGGCGGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCTGGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGGCGGTGGGGAGTGAGGAGGGGTCG GCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	333	0.0030	588	c.205 others(603): Show c.2059-80_2059-79insCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCCACGCCGACCCCTCC TCACTCCCCACCGCCCACCAGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACCGCCGACCCCTCCTCACTCC CCACCGCCACCCGCCGACCCCCTCCTCACTCCCCACCGCCCACGCCGACC CCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCC CACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCACT CCCCACCGCCCAGCCCGACCCCTCCTCACTCCCCACCCCGCCCACGCCGA CCCCTCCTCACTCCCCACCCGCCCACACGCCGACCCCTCCTCACTCCCCA CCGCCCACCGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCCT CCTCACTCCCCACCGCCCACGCCGACCCCCGTCCTCACTCCCCACCGCCC ACGCCGACCCCCTCCCTCACTCCCCCACCGCCCACGCTGACCCCTCCTCA CTCCCCAC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RPH3AL_chr17_207389_357807	272967	T T	TGAGACCC others(581): Show TGAGACCCCAGCGACGGCGACATCAGGAAGAGACCCCAGCGAGGGCGACG TCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCAAGG GCGACATCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGTGAGACCCCA GCGAGGGCGACATCAGGAAGAGACCCCAGCGAGGGTGACGTCAGGAAGAG ACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAG GGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGA CGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGAAGAGACCCCAGCGA GGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCGGGGTGAGACCC CAGCGAGGGCGACATCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGTG AGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTC AGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGT GACGTCAGGGAGAGACCCCAGCAAGGGCGACATCAGGAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0113 a0001c0001t0008g0113	1	58	0.0172	588	c.438 others(605): Show c.438+8800_438+8801insTTCCTGATGTCGCCCTTGCTGGGGTCTC TCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGG GGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCT CGCTGGGGTCTCACCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGATGT CGCCCTCGCTGGGGTCTCACCCCGACGTCACCCTCGCTGGGGTCTCTCCC TGACGTCGCCCTCGCTGGGGTCTCTTCCTGACGTCACCCTCGCTGGGGTC TCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCT GGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACC CTCGCTGGGGTCTCTTCCTGACGTCACCCTCGCTGGGGTCTCTTCCTGAT GTCGCCCTCGCTGGGGTCTCACCCTGACGTCGCCCTCGCTGGGGTCTCTT CCTGATGTCGCCCTTGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGG TCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGATGTCGCCGTCG CTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273236	C C	CGACGTCA others(581): Show CGACGTCAGGGAGAGACCCCAGCGAGGGTGACTTCAGGGAGAGACCCCAG CGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGA CCCCAGCGAGGGTGACGTCAGGAAGAGACCCCAGCGAGGGCGACGTCAGG GAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGAC TTCAGGGTGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAG GGCGACGTCAGGGTGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCC AGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGA GACCCCAGCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGCGACATCA GGAAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCG ACGTCAGGGAGAGACCCCAGCAAGGGTGATGTCAGGAAGAGACCCCAGCG AGGGTGACTTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACC CCAGCGAGGGTGACGTCAGGAAGAGACCCCAGCGAGGGT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0074 a0001c0001t0035g0074	1	113	0.0088	588	c.438 others(605): Show c.438+8531_438+8532insACCCTCGCTGGGGTCTCTTCCTGACGTC ACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCT GAAGTCACCCTCGCTGGGGTCTCTTCCTGACATCACCCTTGCTGGGGTCT CTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTG GGGTCTCTTCCTGATGTCGCCCTCGCTGGGGTCTCTCCCTGAAGTCACCC TCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACG TCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCACC CTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGT CTCACCCTGAAGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGC TGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGACGTCAC CCTCGCTGGGGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGA CGTCGCCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCTGGGGTCTCT CCCTGACGTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273432	C C	CGACGTCA others(581): Show CGACGTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAG CGAGGGTGACGTCAGGGAGAGACCCCAGCGCGGGCGACATCAGGAAGAGA CCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGG GAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGAC GTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGCG GGTGACTTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCC AGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGA GACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGCGGGTGACTTCA GGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTG ACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGTGAGACCCCAGCG AGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACC CCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGCGGGT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	94	0.0106	588	c.438 others(605): Show c.438+8335_438+8336insACCCGCGCTGGGGTCTCTCCCTGACGTC GCCCTCGCTGGGGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCTCCCT GACGTCGCCCTCGCTGGGGTCTCACCCTGACGTCGCCCTCGCTGGGGTCT CTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTG GGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGTCACCC TCGCTGGGGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACG TCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCACC CTGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGT CTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGC TGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCAC CCTCGCTGGGGTCTCTTCCTGATGTCGCCCGCGCTGGGGTCTCTCCCTGA CGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCA CCCTGACGTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273604	G G	GTCAGGGT others(581): Show GTCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGGAGAGACCCCAGCGAG GGCGACGTCAGGGTGAGACCCCAGCGAGGGTGACGTCAGGAAGAGACCCC AGCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGA GACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCA GGGAGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGCG ACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCG AGGGTGACGTCAGGGAGAGACCCCAGCGCGGGTGACTTCAGGGTGAGACC CCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGTGATGTCAGGGA GAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGCGGGTGACTT CAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGCGGG TGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGGAGAGACCCCAG CGAGGGTGACGTCAGGGAGAGACCCCAGCGCGGGTGACT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	130	0.0077	588	c.438 others(605): Show c.438+8163_438+8164insAGTCACCCGCGCTGGGGTCTCTCCCTGA CGTCACCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCTGGGGTCTCA CCCTGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGG GTCTCTCCCTGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGTCACCCTC GCTGGGGTCTCTCCCTGACATCACCCTTGCTGGGGTCTCTCCCTGACGTC GCCCTCGCTGGGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTCTCCCT GACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCT CTCCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGAAGTCACCCTCGCTG GGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCC TCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGAAG TCACCCTCGCTGGGGTCTCTTCCTGACGTCACCCTCGCTGGGGTCTCACC CTGACGTCGCCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCTGGGGT CTCACCCTGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304998	A A	AGGGGGAC others(581): Show AGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAG GGAGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGA GACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAG GGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGG CGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCG AGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGA GGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGG GGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGG ACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACA GGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGG GCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	39	0.0256	588	c.351 others(607): Show c.351+14421_351+14422insCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGT CCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCC CCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCT CTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCC CGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCG CCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCC TGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTG TCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCC CTCTCGCCCTGTCTCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTC TCGCCCTGTCTCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCC GCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGGGGGAC others(581): Show AGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG GGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGACAGGGCGGGAGGGG GACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGA CAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACA GGGCAAGAGGGGGACAGGGCGGGAGGGGACAGGGCGGGAGGGGGACAGGG CGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCG AGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGG AGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG GGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGG ACAGGGCGAGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGACA GGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGCAGGGGGACAGG GCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0126 a0001c0002t0009g0126	1	20	0.0500	588	c.351 others(607): Show c.351+14310_351+14311insCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCCCTCCCGCCCTGTCCCCCTGCCGCCCTGTCCCCCTCTCGCCCTGT CCCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCC CCTCTCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCT CTCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGC CCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCC TGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCCCGCCCTGT CCCCCTCTTGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCC CCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCCTC CCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTC GCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SAMD11_chr1_918923_949574	934581	C C	CCGTTACA others(581): Show CCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGG TGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGG CGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	316	0.0032	588	c.843 others(605): Show c.843-1172_843-1171insAGGCGGCTCCGTTACAGGTGGGCGGGGG GGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACA GGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTG GGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTA CAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCT CCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934581	C C	CCGTTACA others(581): Show CCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGG GCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGG CGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACA GGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	316	0.0032	588	c.843 others(605): Show c.843-1172_843-1171insAGGCGGCTCCGTTACAGGTGGGCGGGGG GGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTG GGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTA CAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(581): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC GTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCAAC CCATCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCACCCACACAC CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCC ACCCACCCACCCACCCACCCATCCATCCACCCACCCACC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0289 a0001c0002t0002g0289	1	8	0.1250	588	c.937 others(605): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCAACCCATCC ACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCAT CCATCCATCCATCCATCTACCCATCCACCCACCCACCCACACACCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCAC CCACCCACCCACCCATCCATCCACCCACCCACCCATCCATCCATCCATCC ATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(581): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC GTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCAAC CCATCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCACCCAC ACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCC ACCCACCCACCCACCCACCCATCCATCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03579.hp1 HG02258.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0178 a0001c0002t0002g0275 a0001c0002t0002g0178 a0001c0002t0002g0275	2	9	0.2222	588	c.937 others(605): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCAACCCATCC ACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCAT TCATCCATCCATCCATCCATCTACCCATCCACCCACCCACCCACACACCT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCAC CCACCCACCCACCCATCCATCCACCCACCCACCCATCCATCCATCCATCC ATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(581): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC GTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCAAC CCATCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTC ATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCACCCACACAC CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCC ACCCACCCACCCACCCACCCATCCATCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0280 a0001c0002t0002g0280	1	8	0.1250	588	c.937 others(605): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCAACCCATCC ACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATTCAT CCATCCATCCATCCATCTACCCATCCACCCACCCACCCACACACCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCAC CCACCCACCCACCCATCCATCCACCCACCCACCCATCCATCCATCCATCC ATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(581): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC GTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCAAC CCATCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTC ATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCACCCACACAC CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCC ACCCACCCACCCACCCACCCATCCATCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG02622.hp2 others(7): Show HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02723.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0180 a0001c0002t0002g0281 a0001c0002t0002g0285 others(7): Show a0001c0002t0002g0180 a0001c0002t0002g0281 a0001c0002t0002g0285 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0004g0288	10	17	0.5882	588	c.937 others(605): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCAACCCATCC ACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATTCAT CCATCCATCCATCCATCTACCCATCCACCCACCCACCCACACACCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCAC CCACCCACCCACCCATCCATCCACCCACCCACCCATCCATCCATCCATCC ATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SATL1_chrX_85087284_85248779	85088046	G G	GTATTTAT others(581): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATATGTATAAATACGTACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATGTATAAATACATATACATATTTATACATATATGTATAAATAC ATATACATATTTATACATATATGTATAAATACATATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	196	0.0051	588	c.43 others(599): Show c.4344_*4345insTGTATATGTATTTATACATATATGTATAAATATG TATATGTATTTATACATATATGTATAAATATGTATATGTATTTATACATA TATGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTACG TATTTATACATATATATGTATAAATATGTACGTATTTATACATATATATG TATAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTATT TATACATATATATGTATAAATATGTACGTATTTATACATATATATGTATA AATATGTACGTATTTATACATATATATGTATAAATATGTACGTATTTATA CATATATATGTATAAATATGTACGTATTTATACATATATATGTATAAATA TGTACGTATTTATACATATATATGTATAAATATGTACGTATTTATACATA TATATGTATAAATATGTATGTATTTATACATATATATGTATAAATATGTA TGTATACATATATGTATAAATATGTATGTATTTATACATATATGTATTAA TACGTATTTATACATATATGTATTAATACGTATTTATACATATATGTATA AATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4237		chrX	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(581): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCACCCCTCCCCCCTCCCC CACCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCC TCCCCACCCCCTCCCCATCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03130.hp2 HG03486.hp2 HG02559.hp1 HG03130.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0026 a0001c0001t0002 a0002c0002t0026	a0001c0001t0002g0055 a0001c0001t0002g0133 a0002c0002t0026g0057 a0001c0001t0002g0055 a0001c0001t0002g0133 a0002c0002t0026g0057	3	42	0.0714	588	c.77- others(605): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCACCCCTCCCCC CTCCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTCCCCTCCCCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCT CCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(581): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTTCCTGACCCGCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTT CCCCCTCCCCCCCATCCCCCTCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCACCCCTCCCCCCTCC CCTCCTCCCCACCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCACCCCTCCCCCCTCCCC CACCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCC TCCCCACCCCCTCCCCATCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	40	0.0250	588	c.77- others(605): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTTCCTGACCCGCCCCTCCCCTCCCCTCCCCCCTCCCCCCT CCCCTTCCCCCTCCCCCCCATCCCCCTCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCACCCCTCCC CCCTCCCCTCCTCCCCACCCCACCCCTTCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCACCCCTCCCCC CTCCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTCCCCTCCCCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCT CCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(581): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCACCCCTCCCCCCTCCCC CACCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCC TCCCCACCCCCTCCCCATCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03130.hp1 HG03486.hp1 HG02559.hp2 HG03130.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0023 a0002c0002t0022 a0001c0001t0023 a0002c0002t0022	a0001c0001t0023g0066 a0001c0001t0023g0068 a0002c0002t0022g0070 a0001c0001t0023g0066 a0001c0001t0023g0068 a0002c0002t0022g0070	3	47	0.0638	588	c.22+ others(605): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCACCCCTCCCCC CTCCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTCCCCTCCCCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCT CCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(581): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTTCCTGACCCGCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTT CCCCCTCCCCCCCATCCCCCTCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCACCCCTCCCCCCTCC CCTCCTCCCCACCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCACCCCTCCCCCCTCCCC CACCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCC TCCCCACCCCCTCCCCATCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0073 a0001c0001t0054g0073	1	45	0.0222	588	c.22+ others(605): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTTCCTGACCCGCCCCTCCCCTCCCCTCCCCCCTCCCCCCT CCCCTTCCCCCTCCCCCCCATCCCCCTCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCACCCCTCCC CCCTCCCCTCCTCCCCACCCCACCCCTTCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCACCCCTCCCCC CTCCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTCCCCTCCCCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCT CCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SNX9_chr6_157818246_157950077	157827116	C C	AACATATA others(581): Show AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAACATATAGTTTATATAATATATAAACATATAGTTTATATAATATAT AAACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	47	0.0213	588	c.12+ others(603): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAAC ATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACAT ATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAA CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT AAAATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SPNS3_chr17_4428940_4493204	4462382	C C	CACCAATC others(581): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAA TCTATCCATCCATCCATCCATCCATCCATCCATCCACCAATCTATCCATC CATCCATCCACCCATCCGCCAATCCATCCATCCATCCATCCATCCACCAA TCCATCCACCCACCCATCCACCAATCCATCCATCCACCCACCCACCCACC CACCCACCAATGCATCCATCCACCCACCCACCCACCCACCCACCCATCCA TCCACCAGTCTATCAATCCATCTATCCATCCATCCACCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02280.hp1 others(8): Show HG01884.hp1 HG01891.hp2 HG02280.hp1 HG02647.hp2 HG02970.hp1 HG02976.hp1 HG03209.hp1 HG03516.hp2 HG03834.hp1 NA18948.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0042 others(1): Show a0001c0001 a0001c0006 a0001c0042 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 a0001c0042t0002 a0003c0008t0003	a0001c0001t0001g0111 a0001c0001t0001g0223 a0001c0001t0001g0335 others(8): Show a0001c0001t0001g0111 a0001c0001t0001g0223 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0002g0324 a0001c0001t0002g0330 a0001c0001t0002g0333 a0001c0001t0002g0336 a0001c0006t0002g0043 a0001c0042t0002g0339 a0003c0008t0003g0141	11	323	0.0341	588	c.111 others(607): Show c.1113+9178_1113+9179insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC TACCCACCCATCCATCCACCAATCTATCCATCCATCCATCCATCCATCCA TCCATCCACCAATCTATCCATCCATCCATCCACCCATCCGCCAATCCATC CATCCATCCATCCATCCACCAATCCATCCACCCACCCATCCACCAATCCA TCCATCCACCCACCCACCCACCCACCCACCAATGCATCCATCCACCCACC CACCCACCCACCCACCCATCCATCCACCAGTCTATCAATCCATCTATCCA TCCATCCACCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar

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