Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NME4_chr16_392199_405754	397703	G G	GGGGGGTG others(583): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGG GGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGG AGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGGAGTCGGGGGGTGGGGG TGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	311	0.0032	590	c.91+ others(603): Show c.91+393_91+394insGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGGAG TCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(583): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGAGAGGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGAG GGAGAAGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA TGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGAGAG GGGAGGGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGAGA GGGGGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGA GGGGAAGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGA GGGGGAGGGGGAGGGGAGAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGG AGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAG GAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0063 a0001c0003t0063	a0001c0003t0063g0195 a0001c0003t0063g0195	1	142	0.0070	590	c.154 others(607): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTCTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCTCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATC CCCTCCCCCTCCCCTCTCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCC CTCCCCTCCCCCATCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCATC CCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCATCCTCCTCCCTCCCCCTTCTCCGTCCTCCTTCCTC CTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCT CCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(583): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCT TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCTGAATAGATCTATTCGGATCTATTCTGAATAGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0123	1	50	0.0200	590	c.129 others(607): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCAGAATAGATCCGAATAG ATCTATTCAGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(583): Show AAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGACTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATGTGTATATATATATATATTATATA TGCATATTATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGGAA TTCTGTTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCTTA TCCATGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGAC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0088 a0001c0011t0002g0088	1	63	0.0159	590	c.98- others(605): Show c.98-1437_98-1436insTCAAGGAATTCATAGACTAGCAGAAGAGGG AAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGA GGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCA GTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGT ACTTTGTGTGACTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGA TTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGG GGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTG AGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTC CTACTATATATATATATGTGTATATATATATATATTATATATGCATATTA TGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGGAATTCTGTTAG ACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCTTATCCATGTTA GGAACTGTGGTCATTTTGTGGCCACTGAGGACAAAAAAAATGGGTGTCAC TGTCCAGCTC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
RAMACL_chr6_166578009_166591678	166581999	A A	ACAGGGAG others(583): Show ACAGGGAGAGGTGAGATGGGGTGGGACGCACACTGGGCAGGTGGGCTGGG CAGGAGGGCCCAGGGAGAGGTGAGATGGGGTGGGACGTCCACTGGGCAGG TGGGCTGGGCAGGAGGGCACAGGGAGAGGTGAGATGGGGTGGGACGCCCA CTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGAGGTGAGATGGGGTG GGACGCCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGAGGTGA GATGGGGTGGGACGTCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGG GAGAGGTGAGATGGGGTGGGACGTCCACTGGGCAGGTGGGCTGGGCAGGA GGGCCCAGGGAGAGGTGAGATGGGGTGGGACGCCCACTGGGCAGGTGGGC TGGGCAGGAGGGCCCAGGGAGAGGTGAGATGGGGTGGGACGTCCACTGGG CAGGTGGGCTGGGCAGGAGGGCCCAGGGAGAGGTGAGATGGGGTGGGACG TCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGAGGTGAGATGG GGTGGGACGTCCACTGGGCAGGTGGGCTGGGCAGGAGGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02280.hp2 others(1): Show HG01070.hp1 HG01071.hp1 HG02280.hp2 HG03516.hp1	a0002 a0002	a0002c0000 a0002c0000	a0002c0000t0008 a0002c0000t0008	a0002c0000t0008g0000 a0002c0000t0008g0000	4	57	0.0702	590	c.41 others(601): Show c.4121_*4122insGGCCCTCCTGCCCAGCCCACCTGCCCAGTGGACG TCCCACCCCATCTCACCTCTCCCTGTGCCCTCCTGCCCAGCCCACCTGCC CAGTGGACGTCCCACCCCATCTCACCTCTCCCTGGGCCCTCCTGCCCAGC CCACCTGCCCAGTGGACGTCCCACCCCATCTCACCTCTCCCTGGGCCCTC CTGCCCAGCCCACCTGCCCAGTGGGCGTCCCACCCCATCTCACCTCTCCC TGGGCCCTCCTGCCCAGCCCACCTGCCCAGTGGACGTCCCACCCCATCTC ACCTCTCCCTGTGCCCTCCTGCCCAGCCCACCTGCCCAGTGGACGTCCCA CCCCATCTCACCTCTCCCTGTGCCCTCCTGCCCAGCCCACCTGCCCAGTG GGCGTCCCACCCCATCTCACCTCTCCCTGTGCCCTCCTGCCCAGCCCACC TGCCCAGTGGGCGTCCCACCCCATCTCACCTCTCCCTGTGCCCTCCTGCC CAGCCCACCTGCCCAGTGGACGTCCCACCCCATCTCACCTCTCCCTGGGC CCTCCTGCCCAGCCCACCTGCCCAGTGTGCGTCCCACCCCATCTCACCTC TCCCTG	RAMACL	ENSG00000235272.3	transcript	ENST00000444122.3	protein_coding		1009		chr6	TogoVar
RASA3_chr13_113972783_114137623	114043949	C C	CCCCGCCC others(583): Show CCCCGCCCCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCT CACTCGCTGAGCTCCCCCACCCGCCTCACTCGCTGAGCCCCCCCGCCCCG CCTCACTCGCTGAGCCCCCCCCGCCCCCCCCCGCCCCGCCTCACTCGCTG AGCCCCCCACCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGC TGAGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCGCCCCGCCTCAC TCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCCCCCGCCC CGCCTCACTCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAGCCCCCCCCC CCGCCCCGCCTCACTCGCTGAGCTCCCCCCCGCCTCACTCGCTGAGCTCC CCCCCCGCCTCACTCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAGCACC CCCCCGCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGC CCCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCCGCCTCACTCG CTGAGCTCCCCCCCCCGCCTCACTCGCTGAGCACCCCCCCG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	40	0.0250	590	c.278 others(607): Show c.278-2856_278-2855insCGGGGGGGTGCTCAGCGAGTGAGGCGGG GGGGGGAGCTCAGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGGCG GGGCGGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGT GAGGCGGCGGGGGGGTGCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGA GTGAGGCGGGGGGGGAGCTCAGCGAGTGAGGCGGGGGGGAGCTCAGCGAG TGAGGCGGGGCGGGGGGGGGGGCTCAGCGAGTGAGGCGGGGGGGGAGCTC AGCGAGTGAGGCGGGGCGGGGGGGGGGGGCTCAGCGAGTGAGGCGGGGCG GGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGCTCAGCGAGTGAGGCGG GGCGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGG CGGGTGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGCGGGGGGGGC TCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGTGGGGG AGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCGG GGGGGGGGCGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(583): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGTCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0110 a0001c0002t0005g0110	1	5	0.2000	590	c.880 others(607): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTC ACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(583): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	81	0.0123	590	c.132 others(607): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RPH3AL_chr17_207389_357807	305060	G G	GAGGGGGA others(583): Show GAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAG GGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGG ACAGGGCGGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGG ACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGAC AGGGCAAGAGGGGGACAGGGCGGGAGGGGACAGGGCGGGAGGGGGACAGG GCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGC GAGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGG GAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGA GGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGG GGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGA CAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	128	0.0078	590	c.351 others(609): Show c.351+14359_351+14360insGCCGCCCTGTCCCCCTCTCGCCCTGT CCCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCC CCTCTCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCT CTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCC CGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCG CCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCCCGCCCTG TCCCCCTCTTGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCC CCCTCCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCC CCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCC TCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCC CGCCCTGTCCCCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPS6KA2_chr6_166404364_166632251	166581999	A A	ACAGGGAG others(583): Show ACAGGGAGAGGTGAGATGGGGTGGGACGCACACTGGGCAGGTGGGCTGGG CAGGAGGGCCCAGGGAGAGGTGAGATGGGGTGGGACGTCCACTGGGCAGG TGGGCTGGGCAGGAGGGCACAGGGAGAGGTGAGATGGGGTGGGACGCCCA CTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGAGGTGAGATGGGGTG GGACGCCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGAGGTGA GATGGGGTGGGACGTCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGG GAGAGGTGAGATGGGGTGGGACGTCCACTGGGCAGGTGGGCTGGGCAGGA GGGCCCAGGGAGAGGTGAGATGGGGTGGGACGCCCACTGGGCAGGTGGGC TGGGCAGGAGGGCCCAGGGAGAGGTGAGATGGGGTGGGACGTCCACTGGG CAGGTGGGCTGGGCAGGAGGGCCCAGGGAGAGGTGAGATGGGGTGGGACG TCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGAGGTGAGATGG GGTGGGACGTCCACTGGGCAGGTGGGCTGGGCAGGAGGGCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03516.hp1 HG02280.hp2 HG03516.hp1	a0001 a0001	a0001c0015 a0001c0022 a0001c0015 a0001c0022	a0001c0015t0023 a0001c0022t0017 a0001c0015t0023 a0001c0022t0017	a0001c0015t0023g0003 a0001c0022t0017g0195 a0001c0015t0023g0003 a0001c0022t0017g0195	2	35	0.0571	590	c.100 others(609): Show c.100-43216_100-43215insGGCCCTCCTGCCCAGCCCACCTGCCC AGTGGACGTCCCACCCCATCTCACCTCTCCCTGTGCCCTCCTGCCCAGCC CACCTGCCCAGTGGACGTCCCACCCCATCTCACCTCTCCCTGGGCCCTCC TGCCCAGCCCACCTGCCCAGTGGACGTCCCACCCCATCTCACCTCTCCCT GGGCCCTCCTGCCCAGCCCACCTGCCCAGTGGGCGTCCCACCCCATCTCA CCTCTCCCTGGGCCCTCCTGCCCAGCCCACCTGCCCAGTGGACGTCCCAC CCCATCTCACCTCTCCCTGTGCCCTCCTGCCCAGCCCACCTGCCCAGTGG ACGTCCCACCCCATCTCACCTCTCCCTGTGCCCTCCTGCCCAGCCCACCT GCCCAGTGGGCGTCCCACCCCATCTCACCTCTCCCTGTGCCCTCCTGCCC AGCCCACCTGCCCAGTGGGCGTCCCACCCCATCTCACCTCTCCCTGTGCC CTCCTGCCCAGCCCACCTGCCCAGTGGACGTCCCACCCCATCTCACCTCT CCCTGGGCCCTCCTGCCCAGCCCACCTGCCCAGTGTGCGTCCCACCCCAT CTCACCTCTCCCTG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	1/20			chr6	TogoVar
SCNN1D_chr1_1275436_1297025	1288867	T T	TCCCGTGT others(583): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGA GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC CCCCGAGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0065 a0002c0003t0002g0065	1	251	0.0040	590	c.166 others(607): Show c.1662+851_1662+852insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGA GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC CCCCGAGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TTAAAATA others(583): Show TTAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAA TATATATACATATGTTTTATAAGTGTATATATACACATATAAAATATATA TACATATGTTTTATATGTGTATATATACACATATAAAATATATATACATA TGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTTT ATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATGT GTATATATACACATATAAAATATATATACATATGTTTTATATGTATATAT ACATATAAAATATATATACATATGTTTTATATGTATATATATACATATAA AATATATATACATATAAAATATATACATATAAAATATATATGTTTTATAT GTATATATACATATAAAATATATATACATATGTTTTATATGTATATATAC ACATATAAAACATATATACATATGTTTTATATGTGTATATATACATAGAA AATATATATAATATATATACATATGTTTTATATGTATATATATACATAGA AAATATATATACATATGTTTTATATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	158	0.0063	590	c.626 others(607): Show c.626+5409_626+5410insTAAAATATATATACATATGTTTTATAAG TGTATATATACACATATAAAATATATATACATATGTTTTATAAGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTGTATATATACACATATA AAATATATATACATATGTTTTATATGTGTATATATACACATATAAAATAT ATATACATATGTTTTATATGTGTATATATACACATATAAAATATATATAC ATATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTA TATGTATATATATACATATAAAATATATATACATATAAAATATATACATA TAAAATATATATGTTTTATATGTATATATACATATAAAATATATATACAT ATGTTTTATATGTATATATACACATATAAAACATATATACATATGTTTTA TATGTGTATATATACATAGAAAATATATATAATATATATACATATGTTTT ATATGTATATATATACATAGAAAATATATATACATATGTTTTATATGTAT ATATATACATAG	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6			chr13	TogoVar
SLC35E2B_chr1_1656478_1697795	1660731	A A	AGCCTCAG others(583): Show AGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCGCCT GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTCGCCA GGATGGTCTCGATCTCCTTACCTTGTGATTCGCCCGCCTTGGCCTCCCAG AGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTAGCTATTTTTATTTTT TCTGATAGGGAGACTCGCTCTGGCCCAGGCTGGAGGGCAGTGGCGGGATC TCCGCTCATTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCCGCCTC CACTCCATTCTCCCATCTTAGGCTCCAGAGTAGCTGGGCCACCATGCCCG GCTAATTTTTTGTATTTTTAGTTGAGACCGGGTTTCACTGTGTTAGCCAG GATGGTCTTGATCTCGTGACCTCGTGATCTGCCTGCCTTGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACAGCACCCTGCCCTTTTTTTTGAGA AATAAGTCTCACTGTGTCACCCAGGCTGGAGTAGAGTGACACAATTTTGG GTAACTGCAGCTTCCACCTCCCAGGTTCAAGTGATTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0104 a0002c0003t0104	a0002c0003t0104g0295 a0002c0003t0104g0295	1	338	0.0030	590	c.50 others(601): Show c.5050_*5051insAGGAGAATCACTTGAACCTGGGAGGTGGAAGCTG CAGTTACCCAAAATTGTGTCACTCTACTCCAGCCTGGGTGACACAGTGAG ACTTATTTCTCAAAAAAAAGGGCAGGGTGCTGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCACGAGATCAA GACCATCCTGGCTAACACAGTGAAACCCGGTCTCAACTAAAAATACAAAA AATTAGCCGGGCATGGTGGCCCAGCTACTCTGGAGCCTAAGATGGGAGAA TGGAGTGGAGGCGGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAAT GAGCGGAGATCCCGCCACTGCCCTCCAGCCTGGGCCAGAGCGAGTCTCCC TATCAGAAAAAATAAAAATAGCTAGGCGCAGTGGCTCACGCCTGTAATCC CAGCACTCTGGGAGGCCAAGGCGGGCGAATCACAAGGTAAGGAGATCGAG ACCATCCTGGCGAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCAGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGC	SLC35E2B	ENSG00000189339.12	transcript	ENST00000617444.5	protein_coding		746		chr1	TogoVar
SLC35F1_chr6_117902264_118322671	117923680	T T	TATGTACA others(583): Show TATGTACATATATACATATGTATATATGCATATATGTACATATGTACATA TATACATATGTATATATGCATATATGTACATATGTACATATATACATATG TATATATGCATATATGTACATATGTACATATGTACATATGTATATATGCA TATATGTACATATGTACATATGTACATATGTATATATGCATATATGTACA TATGTACATATGTACATATGTATATATGCATATATGTACATATGTACATA TGTACATATGTATATATGCATATATGTACATATGTACATATGTACATATG TATATATGCATATATGTACATATGTACATATGTACATATGTACATATATG CATATATGTACATATGTACATATGTACATATGTATATATGCATATATGTA CATATGTACATATGTACATATGTATATATGCATATATGTACATATGTACA TATGTATATATACGTATATGTACATACGTACATATATACATATGTATATA TACGTATATGTACATATGTACATATATACATATGTATATATACGTATATG TACATATGTACATATATACATATACATATGTACATATACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0106 a0001c0001t0007g0106	1	95	0.0105	590	c.173 others(609): Show c.173+15783_173+15784insGTACATATATACATATGTATATATGC ATATATGTACATATGTACATATATACATATGTATATATGCATATATGTAC ATATGTACATATATACATATGTATATATGCATATATGTACATATGTACAT ATGTACATATGTATATATGCATATATGTACATATGTACATATGTACATAT GTATATATGCATATATGTACATATGTACATATGTACATATGTATATATGC ATATATGTACATATGTACATATGTACATATGTATATATGCATATATGTAC ATATGTACATATGTACATATGTATATATGCATATATGTACATATGTACAT ATGTACATATGTACATATATGCATATATGTACATATGTACATATGTACAT ATGTATATATGCATATATGTACATATGTACATATGTACATATGTATATAT GCATATATGTACATATGTACATATGTATATATACGTATATGTACATACGT ACATATATACATATGTATATATACGTATATGTACATATGTACATATATAC ATATGTATATATACGTATATGTACATATGTACATATATACATATACATAT GTACATATACACAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AAATATAA others(583): Show AAATATAAATATATTATATATTATATATAAATATAAATATATTATATATA TTATATATAAATATAAATATATTATATATATTATATATAAATATAAATAT ATTATATATATTATATATAAATATAAATATATTATATATATTATATATAA TATAAATATATTATATATATTATATATAATATAAATATATTATATATATT ATATATAAATATAAATATATTATATATATTATATATAAATATAAATATAT TATATATATTATATATAAATATAAATATATTATATATATTATATATAAAT ATAAATATATTATATATATTATATATAAATATAAATATATTATATATATT ATATATAATATAAATATATTATATATATTATATATAATATAAATATATTT ATATATTATATATAATATAAATATATTTATATATTATATATAAATATAAA TATATTATATATATTATATATAAAATATAAATATATTATATATATTATAT ATAAATATAAATATATTATATATATTATATATAAATATAAATATATTATA TATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp1 HG02055.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0111 a0002c0002t0002g0112 a0002c0002t0001g0111 a0002c0002t0002g0112	2	281	0.0071	590	c.-70 others(607): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTTATATATAATATATATAATA TATTTATATTTATATATAATATATATAATATATTTATATTTTATATATAA TATATATAATATATTTATATTTATATATAATATATAAATATATTTATATT ATATATAATATATAAATATATTTATATTATATATAATATATATAATATAT TTATATTATATATAATATATATAATATATTTATATTTATATATAATATAT ATAATATATTTATATTTATATATAATATATATAATATATTTATATTTATA TATAATATATATAATATATTTATATTTATATATAATATATATAATATATT TATATTTATATATAATATATATAATATATTTATATTATATATAATATATA TAATATATTTATATTATATATAATATATATAATATATTTATATTTATATA TAATATATATAATATATTTATATTTATATATAATATATATAATATATTTA TATTTATATATAATATATATAATATATTTATATTTATATATAATATATAA TATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC6A3_chr5_1387794_1450440	1422744	C C	CCACAGTG others(583): Show CCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGC CCAAGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGG GTGCCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGC CCAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCAGTGCTGCCCACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCC ACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCTGC CCACAGTGCTGCTCACGGTGCTGGGTACCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA19011.hp1 NA19081.hp1 HG03710.hp2 NA19011.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0090 a0001c0001t0001g0151 a0001c0001t0001g0069 a0001c0001t0001g0090 a0001c0001t0001g0151	3	189	0.0159	590	c.654 others(605): Show c.654-731_654-730insTGGGCAGCGGTGGGTACCCAGCACCGTGAG CAGCACTGTGGGCAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTGGG CAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCGTG GGCAGCACTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTG GGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCA GCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACC CAGCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGG CAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGG CAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SPADH_chr10_122667850_122684494	122681289	C C	CGGAGATA others(583): Show CGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCA TGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATG GTTTTCTCATGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTG TCAACCATGGTTTTCTCATGTGTGAACTGGAGATAGAAACATCAGACCTT TTACCTCTGTCAACCATGGTTTCCTCGTGTGTGAACGGGAGATAGAAACA TCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCGTGTGTGAACTGGAG ATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCATGTGT GAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTT CTCGTGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAAC CATGGTTTTCTCATGTGTGAACTGGAGATAGAAACATCAGACCTTTTACC TCTGTCAACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACATCAGA ACTTTTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG02109.hp1 HG02451.hp1 others(14): Show HG01192.hp1 HG02109.hp1 HG02451.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03516.hp2 HG03540.hp2 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0023 a0001c0001t0003g0003 a0001c0001t0003g0023	17	304	0.0559	590	c.22 others(601): Show c.2241_*2242insGGAGATAGAAACATCAGACCTTTTACCTCTGTCA ACCATGGTTTTCTCATGTGTGAACTGGAGATAGAAACATCAGACCTTTTA CCTCTGTCAACCATGGTTTTCTCATGTGTGAACTGGAGATAGAAACATCA GACCTTTTACCTCTGTCAACCATGGTTTTCTCATGTGTGAACTGGAGATA GAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCGTGTGTGAA CGGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTC GTGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCAT GGTTTTCTCATGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCT GTCAACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACATCAGACCT TTTACCTCTGTCAACCATGGTTTTCTCATGTGTGAACTGGAGATAGAAAC ATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAACTGGA GATAGAAACATCAGAACTTTTACCTCTGTCAACCATGGTTTTCTCGTGTG TGAACT	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		1796		chr10	TogoVar
SPADH_chr10_122667850_122684494	122681456	A A	ATGTGTGA others(583): Show ATGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCAT GGTTTCCTCGTGTGTGAACGGGAGATAGAAACATCAGACCTTTTACCTCT GTCAACCATGGTTTCCTCGTGTGTGAACTGGAGATAGAAACATCAGACCT TTTACCTCTGTCAACCATGGTTTTCTCATGTGTGAACTGGAGATAGAAAC ATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAACTGGA GATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCATGTG TGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTT TCTCGTGTGTGAACTGGAGATAGAAACATCAGAACTTTTACCTCTGTCAA CCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACATCAGACCTTTTAC CTCTGTCAACCATGGTTTCCTCACGTGTGAACTGGAGATAGAAACATCAG ACCTTTTACCTCTGTCAACCATGGTTTCCTCATGTGTGAACTGGAGATAG AAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	328	0.0030	590	c.24 others(601): Show c.2408_*2409insTGTGTGAACTGGAGATAGAAACATCAGACCTTTT ACCTCTGTCAACCATGGTTTCCTCGTGTGTGAACGGGAGATAGAAACATC AGACCTTTTACCTCTGTCAACCATGGTTTCCTCGTGTGTGAACTGGAGAT AGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCATGTGTGA ACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCT CGTGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCA TGGTTTTCTCATGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTC TGTCAACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACATCAGAAC TTTTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAA CATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCACGTGTGAACTGG AGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCATGT GTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTT TTCTCG	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		1963		chr10	TogoVar
SPADH_chr10_122667850_122684494	122681570	C C	CCTCGTGT others(583): Show CCTCGTGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAA CCATGGTTTTCTCATGTGTGAACTGGAGATAGAAACATCAGACCTTTTAC CTCTGTCAACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACATCAG ACCTTTTACCTCTGTCAACCATGGTTTTCTCATGTGTGAACTGGAGATAG AAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAAC TGGAGATAGAAACATCAGAACTTTTACCTCTGTCAACCATGGTTTTCTCG TGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATG GTTTCCTCACGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTG TCAACCATGGTTTCCTCATGTGTGAACTGGAGATAGAAACATCAGACCTT TTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACA TCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCGTGTGTGAACCGGAG ATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	354	0.0028	590	c.25 others(601): Show c.2522_*2523insCTCGTGTGTGAACTGGAGATAGAAACATCAGACC TTTTACCTCTGTCAACCATGGTTTTCTCATGTGTGAACTGGAGATAGAAA CATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAACTGG AGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCATGT GTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTT TTCTCGTGTGTGAACTGGAGATAGAAACATCAGAACTTTTACCTCTGTCA ACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACATCAGACCTTTTA CCTCTGTCAACCATGGTTTCCTCACGTGTGAACTGGAGATAGAAACATCA GACCTTTTACCTCTGTCAACCATGGTTTCCTCATGTGTGAACTGGAGATA GAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAA CTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTC GTGTGTGAACCGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCAT GGTTTT	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		2077		chr10	TogoVar
STUM_chr1_226543764_226614230	226583206	G G	GATTCTAC others(583): Show GATTCTACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA TAGCTAAAGGATTTATTTATTCACTGAAGAAGAAATCCACATGGGCTCTG AAACTTAAAAGACATTAGTCCTTGTGATATGCATGCTAAATCTTTCTACA AGTCAGTAACTTTTGACTATATATGGCATTTCTCTTTTTTTTTTTTTTCA TTTATTTTTATTTTATTTTATTTTTTTTTTTTTATTATACTCGATAAGTT TTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTG CCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATAT CTCCCAATACTATCCCTACCCCCTCCCCCAACCCCACCACAGTCCCCAGA GTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCA CCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTT ACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGA ACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0300 a0001c0001t0069g0300	1	400	0.0025	590	c.203 others(609): Show c.203-13584_203-13583insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTATAGCTAAAGGATTTATTTATTCACTGAAGAAGAAATCCA CATGGGCTCTGAAACTTAAAAGACATTAGTCCTTGTGATATGCATGCTAA ATCTTTCTACAAGTCAGTAACTTTTGACTATATATGGCATTTCTCTTTTT TTTTTTTTTCATTTATTTTTATTTTATTTTATTTTTTTTTTTTTATTATA CTCGATAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATAT GTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGC ATTAGGTATATCTCCCAATACTATCCCTACCCCCTCCCCCAACCCCACCA CAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTG TTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCT TGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTAC AAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGT ATATTCTACTTCTT	STUM	ENSG00000203685.11	transcript	ENST00000366788.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUFU_chr10_102498972_102638535	102637474	A A	ATTATATA others(583): Show ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATAATATAACTATATATTATATATAATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0224	1	228	0.0044	590	c.73 others(601): Show c.7319_*7320insTTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATAATATAACTATATATTATATATAAT ATATAG	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3940		chr10	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(583): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGACAGCGG GGTGGGAGAACGGGGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGG TGGGAGAACGGGGTGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCG AGGTGGGAGAACGGGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAG AGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGAGGGAG CGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCG GGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGG GTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGT GGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGG GGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	4	0.2500	590	c.157 others(609): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCC CGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCCG TTCCCCCACCCCGCTCTCACCCCCACCCCGCTCTCCCACCCCGCTCTCAC CCCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCCACCCCCTCCCACCCC CACCCCGTTCTCCCACCCCTCCCACCCTGCTCTCCCACCCCGCTCTCCCA CCCCGTTCTCCCACCCCGCTGTCCCACCCCGCTGTCCCACCCCGCTCTCA CCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTT CTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCAC CCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(583): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGGG GAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGG GGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0014 a0001c0007t0001g0014	1	4	0.2500	590	c.157 others(609): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTC CCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCC CCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCGTTCCCCC ACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCAC CCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCC CGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCACCCCGCTCTCCC ACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCCAC CCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCCTGCTCTCCCA CCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCCACCCCGCTCTCA CCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTT CTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCAC CCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(583): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGG GAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGG GAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0205 a0001c0002t0001g0205	1	4	0.2500	590	c.157 others(609): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGT TCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTC CCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCC CCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCC ACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCAC CCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCC CGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCACCCCGCTCTCCC ACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCCAC CCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCCTGCTCTCCCA CCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCCACCCCGCTCTCA CCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTT CTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCAC CCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(583): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGGGAACGGGGAGAGAGCG GGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGG GTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGT GGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGG GGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	4	0.2500	590	c.157 others(609): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGTTCCCCCAC CCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCC CGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCACCCCGCTCTCCC ACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCCAC CCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCCTGCTCTCCCA CCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCCACCCCGCTCTCA CCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTT CTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCAC CCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TAF4_chr20_61969798_62070881	62058444	T T	TCTACACA others(583): Show TCTACACACCAGGCCACAGACAGTGGGGCTCGGGGGGCCAACCTCAGCAA GACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAGTGG GGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTC TACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGA CCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGG CTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTAC ACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCT CAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTC GGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAG GAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGG GGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0274 a0001c0002t0001g0274	1	308	0.0032	590	c.136 others(609): Show c.1360+6006_1360+6007insGCCTGTGTCCGTCCTTCCTGAGGTCT TGCTGAGGTTGGCCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGGC CTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCGAGCCCCAT TGTCTGTGGCCTGGTGTGTAGGCCTGTGTCCGTCCTTCCTGAGGTCTTGC TGAGGTTGGCCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGGCCTG TGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGAGCCCCATTG TCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTG AGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGT CCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGAGCCCCATTGTCT GTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGG TTGGCCCCCCGAGCCCCACTGTCTGTGGCCTGGTGTGTAGACCTGTGTCC GTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGAGCCCCACTGTCTGT GGCCTGGTGTGTAG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAFA5_chr22_48484553_48756932	48605186	G G	GTGATGAT others(583): Show GTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGATGATGGT GGTGATGATGGTGATGGTGATGGTGGTGACGATGGTGATGGTGAGGATGA TGGTGGTGGTGATGGTGAAGGTAATGGTGGTGGTGATGGTGATGGTGATA ATGTGGCGATGGTGATGGTAATGATGGTGGTGATGGTGTTGATTGTGATG GTGATCATGGTAATGGTGATGATGGTGGTGGCGGTGACGGTGATGGTAAT GATGGTGGTGATAGTGATGATGATGGTGATGGTGGTGGTGGTGATGGTGA TGTTAATGATGGTGGTGATAGTGATGACGGTGATGGTGGCGGTGGCGGTG ATGGCGATGGTGATGGTAATAATGGTGGTGATGGTGACGGTGATGATGGT GATGATGATGATGAGGGTGATGGTGATGATGTTGGTGATGGTGATGGTGG TGATGATAATGATGGTGGTGATGGTGGTGGTGGTGATGGTGATGATGGTG GTGATGGTGTTGATGGTGATCTTGGTAATGGTGATGATGGTGGTGGTGAT GGCAATGGTGATGATGGTGGTGATGGTGTTGATGGTGATCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG00621.hp2 others(22): Show HG00323.hp2 HG00597.hp2 HG00621.hp2 HG00735.hp1 HG01071.hp1 HG01175.hp2 HG01256.hp2 HG01993.hp1 HG02083.hp1 HG02135.hp2 HG02647.hp2 HG03471.hp1 HG03540.hp1 HG03831.hp1 NA18612.hp2 NA18747.hp2 NA18947.hp1 NA18979.hp2 NA19012.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0038 a0001c0001t0001g0094 a0001c0001t0001g0100 others(22): Show a0001c0001t0001g0038 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0124 a0001c0001t0001g0151 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0002g0030 a0001c0001t0002g0040 a0001c0001t0002g0075 a0001c0001t0002g0085 a0001c0001t0002g0093 a0001c0001t0002g0111 a0001c0001t0002g0159 a0001c0001t0002g0225 a0001c0001t0003g0110 a0001c0001t0003g0138 a0001c0001t0003g0206 a0001c0001t0005g0081 a0001c0001t0005g0119 a0001c0001t0008g0214	25	81	0.3086	590	c.113 others(609): Show c.113-41409_113-41408insATGATGGTGATGGTGATGATGATGGT GGTGGTGATGGTGATGATGGTGGTGATGATGGTGATGGTGATGGTGGTGA CGATGGTGATGGTGAGGATGATGGTGGTGGTGATGGTGAAGGTAATGGTG GTGGTGATGGTGATGGTGATAATGTGGCGATGGTGATGGTAATGATGGTG GTGATGGTGTTGATTGTGATGGTGATCATGGTAATGGTGATGATGGTGGT GGCGGTGACGGTGATGGTAATGATGGTGGTGATAGTGATGATGATGGTGA TGGTGGTGGTGGTGATGGTGATGTTAATGATGGTGGTGATAGTGATGACG GTGATGGTGGCGGTGGCGGTGATGGCGATGGTGATGGTAATAATGGTGGT GATGGTGACGGTGATGATGGTGATGATGATGATGAGGGTGATGGTGATGA TGTTGGTGATGGTGATGGTGGTGATGATAATGATGGTGGTGATGGTGGTG GTGGTGATGGTGATGATGGTGGTGATGGTGTTGATGGTGATCTTGGTAAT GGTGATGATGGTGGTGGTGATGGCAATGGTGATGATGGTGGTGATGGTGT TGATGGTGATCATG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48605186	G G	GTGATGAT others(583): Show GTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGATGATGGT GGTGGTGATGGTGATGGTGATGGTGGTGACGATGGTGATGGTGAGGATGA TGGTGGTGGTGATGGTGAAGGTAATGGTGGTGGTGATGGTGATGGTGATA ATGTGGCGATGGTGATGGTAATGATGGTGGTGATGGTGTTGATTGTGATG GTGATCATGGTAATGGTGATGATGGTGGTGGCGGTGACGGTGATGGTAAT GATGGTGGTGATAGTGATGATGATGGTGATGGTGGTGGTGGTGATGGTGA TGTTAATGATGGTGGTGATAGTGATGACGGTGATGGTGGCGGTGGCGGTG ATGGCGATGGTGATGGTAATAATGGTGGTGATGGTGACGGTGATGATGGT GATGATGATGATGAGGGTGATGGTGATGATGTTGGTGATGGTGATGGTGG TGATGATAATGATGGTGGTGATGGTGGTGGTGGTGATGGTGATGATGGTG GTGATGGTGTTGATGGTGATCTTGGTAATGGTGATGATGGTGGTGGTGAT GGCAATGGTGATGATGGTGGTGATGGTGTTGATGGTGATCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp2 HG01167.hp2 others(5): Show HG00642.hp1 HG01106.hp2 HG01167.hp2 HG01258.hp2 HG01934.hp2 HG02004.hp2 HG02280.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0097 a0001c0001t0002g0120 a0001c0001t0002g0252 others(5): Show a0001c0001t0001g0097 a0001c0001t0002g0120 a0001c0001t0002g0252 a0001c0001t0003g0122 a0001c0001t0003g0251 a0001c0001t0005g0143 a0001c0001t0006g0001 a0001c0001t0006g0072	8	64	0.1250	590	c.113 others(609): Show c.113-41409_113-41408insATGATGGTGATGGTGATGATGATGGT GGTGGTGATGGTGATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGA CGATGGTGATGGTGAGGATGATGGTGGTGGTGATGGTGAAGGTAATGGTG GTGGTGATGGTGATGGTGATAATGTGGCGATGGTGATGGTAATGATGGTG GTGATGGTGTTGATTGTGATGGTGATCATGGTAATGGTGATGATGGTGGT GGCGGTGACGGTGATGGTAATGATGGTGGTGATAGTGATGATGATGGTGA TGGTGGTGGTGGTGATGGTGATGTTAATGATGGTGGTGATAGTGATGACG GTGATGGTGGCGGTGGCGGTGATGGCGATGGTGATGGTAATAATGGTGGT GATGGTGACGGTGATGATGGTGATGATGATGATGAGGGTGATGGTGATGA TGTTGGTGATGGTGATGGTGGTGATGATAATGATGGTGGTGATGGTGGTG GTGGTGATGGTGATGATGGTGGTGATGGTGTTGATGGTGATCTTGGTAAT GGTGATGATGGTGGTGGTGATGGCAATGGTGATGATGGTGGTGATGGTGT TGATGGTGATCATG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D16_chr17_79927343_80040872	80024453	C C	CACACCAT others(583): Show CACACCATAGACACACACCACACGCACCATAGACAAACCACACGCACCAT ACACACACCACACACCATATACACACACGCCACACACCACACACCATAGG CACACACACCACACACCACACACCATAGACATACACACCACACACCATAA GCACACACACCACACACACCATAGACACACATACCACACACCACACACCA CACACCATACCACACACCACAACACACACCATAGACACACACACCATACA CCATAGACACATACCACACACACCATAGACACACACACTACACATCATAG ACACACACACCACACACCATAGACACACACCACACGCACCATAGACAAAC CACACACACCATACACACACCACACACCATATACACACACACCACACACC ACACACCATAGGCACACACACCACACACCACACACCATAGACACACACAC CACACACCATAAGCACACACACCACACACACCATAGACACACATACCACA CACCACACACCATACCACACACAACACACACCATACACACACACCATACA CCATAGACACACATACCACACACATCATAGACACACACACT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02027.hp1 HG02040.hp2 others(15): Show HG00438.hp1 HG02027.hp1 HG02040.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02273.hp1 NA18944.hp1 NA18955.hp1 NA18975.hp1 NA18995.hp2 NA19007.hp2 NA19012.hp1 NA19054.hp2 NA19060.hp1 NA19066.hp2 NA19077.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0001t0024 a0001c0001t0029 a0001c0001t0053 a0001c0001t0080 a0001c0002t0029 a0001c0003t0010 a0001c0003t0019 a0001c0004t0001 a0001c0004t0007 a0001c0004t0049	a0001c0001t0001g0042 a0001c0001t0002g0038 a0001c0001t0002g0045 others(15): Show a0001c0001t0001g0042 a0001c0001t0002g0038 a0001c0001t0002g0045 a0001c0001t0003g0059 a0001c0001t0004g0091 a0001c0001t0014g0028 a0001c0001t0015g0034 a0001c0001t0015g0036 a0001c0001t0024g0049 a0001c0001t0029g0033 a0001c0001t0053g0007 a0001c0001t0080g0041 a0001c0002t0029g0040 a0001c0003t0010g0027 a0001c0003t0019g0035 a0001c0004t0001g0050 a0001c0004t0007g0046 a0001c0004t0049g0031	18	63	0.2857	590	c.-62 others(609): Show c.-62-10845_-62-10844insAGTGTGTGTGTCTATGATGTGTGTGG TATGTGTGTCTATGGTGTATGGTGTGTGTGTATGGTGTGTGTTGTGTGTG GTATGGTGTGTGGTGTGTGGTATGTGTGTCTATGGTGTGTGTGGTGTGTG TGCTTATGGTGTGTGGTGTGTGTGTCTATGGTGTGTGGTGTGTGGTGTGT GTGCCTATGGTGTGTGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTGTG TGTATGGTGTGTGTGGTTTGTCTATGGTGCGTGTGGTGTGTGTCTATGGT GTGTGGTGTGTGTGTCTATGATGTGTAGTGTGTGTGTCTATGGTGTGTGT GGTATGTGTCTATGGTGTATGGTGTGTGTGTCTATGGTGTGTGTTGTGGT GTGTGGTATGGTGTGTGGTGTGTGGTGTGTGGTATGTGTGTCTATGGTGT GTGTGGTGTGTGTGCTTATGGTGTGTGGTGTGTATGTCTATGGTGTGTGG TGTGTGGTGTGTGTGCCTATGGTGTGTGGTGTGTGGCGTGTGTGTATATG GTGTGTGGTGTGTGTATGGTGCGTGTGGTTTGTCTATGGTGCGTGTGGTG TGTGTCTATGGTGT	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11			chr17	TogoVar
TBC1D22A_chr22_46757650_47180693	46772292	T T	TACACATA others(583): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACATACACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACACACATATATATGTA TACACACACATATATATGTATACACACACATATATATGTATACACACACA TATATATGTATACACACACATATATATGTATACACACATACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CACATACATATATATGTATACACACATACATATATATGTATACACACATA CATATATATGTATACACACATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0043 a0001c0001t0008g0043	1	101	0.0099	590	c.62+ others(605): Show c.62+9445_62+9446insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACATACACATATATATGTATACACACATACACATATATATGTA TACACACATACACATATATATGTATACACACATACACATATATATGTATA CACACATACACATATATATGTATACACACATACACATATATATGTATACA CACACACATATATATGTATACACACACATATATATGTATACACACACATA TATATGTATACACACACATATATATGTATACACACACATATATATGTATA CACACATACATATATATGTATACACACATACATATATATGTATACACACA TACATATATATGTATACACACATACATATATATGTATACACACATACATA TATATGTATACACACATACATATATATGTATACACACATACATATATATG TATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
THNSL2_chr2_88165346_88191627	88181109	C C	CTCCTCTC others(583): Show CTCCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTC TCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCCTC TCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCT CTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCC TCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTC TCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCT CTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC TCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCT CTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTC TCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0023 a0004c0011t0001g0023	1	52	0.0192	590	c.803 others(607): Show c.803-1579_803-1578insCTCTCTCTCTCCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTC CTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCC TCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCT CTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCT CCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTC TCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCT CTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTC TCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCT CTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTC TTCCTCTCTCTC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM120B_chr12_121707752_121787068	121747391	G G	GCTGGGGT others(583): Show GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	285	0.0035	590	c.189 others(605): Show c.189-922_189-921insTGGGAGGCACTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATATTTAT others(583): Show ATATTTATATTTTATTTTTATATTTATATTATATATATATTTTTATATTT ATATTTATATATTATTATATTATATTTATATATTATATAAAAATATATAT CATATATATTTATATATTATATAAAAATATATATCATATATATTTATATA TTATATAAAAATATATATCATATATATTTATATATTATATAAAAATATAT ATCATATATATTTATATATTATATAAAAATATATATCATATATATTTATA TATTATATAAAAATATATATCATATATATTTATATATTATATAAAAATAT ATATCATATATATTTATATATTAAAAATATATATCATATATATTTATATA TTAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATA TATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATAT ATATCATATATATTTATATATTAAAAATATATATCATATATATTTATATA TTAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATA TATTTATATATTAAAAATATATATCATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0049 a0001c0003t0018g0049	1	58	0.0172	590	c.143 others(611): Show c.1437+28904_1437+28905insTTTATATTTTATTTTTATATTTAT ATTATATATATATTTTTATATTTATATTTATATATTATTATATTATATTT ATATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTATATAAAAATATATATCATATATAT TTATATATTATATAAAAATATATATCATATATATTTATATATTATATAAA AATATATATCATATATATTTATATATTATATAAAAATATATATCATATAT ATTTATATATTATATAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTA	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
YBEY_chr21_46281342_46302751	46292548	A A	ACAGCCAC others(583): Show ACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCA GCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	308	0.0032	590	c.339 others(607): Show c.339+1159_339+1160insTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGC CACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAAT TCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292587	C C	CGGTCAGC others(583): Show CGGTCAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAG ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAAC TCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGT GGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	388	0.0026	590	c.339 others(607): Show c.339+1128_339+1129insCAGCCTGACCCGTGCCCGGGACTCAGTG GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGG GACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGA CAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCTTGGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292770	T T	TCAGCCAC others(583): Show TCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCA CGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	302	0.0033	590	c.339 others(607): Show c.339+1315_339+1316insGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAG ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTT AGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293564	G G	GTGCCCGG others(583): Show GTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCC ACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCTGGAGTCAGCCACAC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACACAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	304	0.0033	590	c.339 others(607): Show c.339+2129_339+2130insACAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCTGGAGTCAGCCACACAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACACAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGT GGAGTCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294687	A A	AGTGGGGA others(583): Show AGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCTGGAGT CAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGAAGTGAGTGGAGTCGGCCACGCAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18959.hp1 NA18954.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	2	275	0.0073	590	c.340 others(607): Show c.340-1471_340-1470insGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCGGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCC GGGACTCGGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(583): Show GTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGT CAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGC CACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCA TGCCCGGGACTCTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCGGTGGAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	198	0.0051	590	c.340 others(607): Show c.340-1461_340-1460insGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCATGCCCGGGACTCTGGAGTCAGCCACACAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCGGT GGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
AP3D1_chr19_2095988_2156566	2128712	C C	CGCTCCGA others(584): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCC GCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGC ACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAG CCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCC CCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCC GACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACC CCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCG GCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCC GCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0001 a0004c0024t0001	a0004c0024t0001g0286 a0004c0024t0001g0286	1	252	0.0040	591	c.806 others(606): Show c.806+377_806+378insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCG GCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGG CCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACG GGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTG TCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGT GGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCG GCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGG TGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCG GAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGG CGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTC CACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGC AGTGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128830	A A	AGCTCCGA others(584): Show AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGC ACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAG CCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCC CCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCAC CCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCC GGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCA CAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	360	0.0028	591	c.806 others(606): Show c.806+259_806+260insGGCGGGGGCGGGCCGGCTCCACGGGGTGCA GTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCT GTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGC CGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGG GGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGT CGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCG GGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCG GCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGG TGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGG AGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGG CGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCT CCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGC AGTGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(584): Show TCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTG CACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC TGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0201 a0002c0028t0001g0201	1	192	0.0052	591	c.-48 others(606): Show c.-48+997_-48+998insGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCA CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCC GCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACAC CCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTC ACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCAGGG others(584): Show GGGCAGGGGGGCTGACACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGG CGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTAACCCCC CCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCC CCATCTCCCTCCCGGACAGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGCA CGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCG CGGCTGGCCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGC GGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	2	0.5000	591	c.-14 others(606): Show c.-14-841_-14-840insCAGGGGGGCTGACACCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCG GGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCAG GCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGG TGGGAGGGCTGACCCCCCCATCTCCCTCCCGGACAGGGTGGCTGGCCGGG CTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACCCCTCCACC TCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCAC CTCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(584): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGCGG AGGTGGGAACGTTGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACGTTGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACGTTGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGA ACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0226 a0002c0002t0002g0226	1	76	0.0132	591	c.955 others(608): Show c.955-6211_955-6210insAACTGTCAGGGTCAGAGCAGAGGCGGAG GTGGGAACGTTGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACGTTGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGA ACGTTGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAAC TGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAG AGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(584): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGAGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGG AGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAG CGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGG AGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0038 a0002c0003t0001g0038	1	8	0.1250	591	c.-70 others(600): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGAGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAG GGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGG GAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAA GGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGG GGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGG AAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGG GGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(584): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGGAAGGGGGAGGAGGAAGAGGGGAAGGGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGG AGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAG CGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGG AGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	8	0.1250	591	c.-70 others(600): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAG GGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGAGGGGAAGGG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGG GAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAA GGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGG GGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGG AAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGG GGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(584): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGG AGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAG CGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGG AGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00544.hp1 others(43): Show HG00099.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01106.hp2 HG01123.hp2 HG01884.hp1 HG01952.hp1 HG02027.hp2 HG02165.hp1 HG03139.hp2 HG03688.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18945.hp1 NA18951.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18969.hp2 NA18982.hp1 NA18983.hp1 NA18990.hp1 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19056.hp2 NA19066.hp1 NA19084.hp1 NA19085.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0002c0014 others(2): Show a0001c0002 a0002c0003 a0002c0014 a0002c0016 a0003c0008	a0001c0002t0001 a0002c0003t0001 a0002c0014t0001 others(2): Show a0001c0002t0001 a0002c0003t0001 a0002c0014t0001 a0002c0016t0001 a0003c0008t0001	a0001c0002t0001g0002 a0002c0003t0001g0003 a0002c0003t0001g0018 others(4): Show a0001c0002t0001g0002 a0002c0003t0001g0003 a0002c0003t0001g0018 a0002c0003t0001g0040 a0002c0014t0001g0041 a0002c0016t0001g0003 a0003c0008t0001g0003	46	53	0.8679	591	c.-70 others(600): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAG GGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGG GAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAA GGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGG GGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGG AAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGG GGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(584): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGG AGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAG CGGGAGGAGGAAGGGGAAGAAGGGGGGAGTGGAGGAGGAGGGAAGAAGGA GGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGGAAGAGGGGAAGAAGG GAAGGGGGAAGTGGGAGAAGAAGGGGAAGAGGAGGAGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	8	0.1250	591	c.-70 others(600): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAG GGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGG GAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAA GGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGGGGGAGTGGAGGAG GAGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGGAA GAGGGGAAGAAGGGAAGGGGGAAGTGGGAGAAGAAGGGGAAGAGGAGGAG GGGAA	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BRD3OS_chr9_134020481_134036587	134025267	C C	CAGCCCCT others(584): Show CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAACAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCTCC TCCAGCCCCTCCTCCTCCTCCAGCCCCGCCTCCTGCCCCTCCTCCTCCTC CAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCA GCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCC AGCCCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCC CAGCTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCC CAGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCAT CCAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCC TCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTC CTCCTTCAGCCCCTCCTCCTCCAGTCCCTCCTCCTCCTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01884.hp2 HG02970.hp2 others(1): Show HG01255.hp2 HG01884.hp2 HG02970.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0050 a0001c0001t0016 a0001c0001t0050	a0001c0001t0016g0003 a0001c0001t0050g0003 a0001c0001t0016g0003 a0001c0001t0050g0003	4	145	0.0276	591	c.-10 others(602): Show c.-1056_-1055insAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCA GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCGCCTCCTG CCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCA GCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGC CCCTCCTCCTCATCCAGCCCCTCCTCCTCATCCAGCCCTTTCTCCTCTCC CAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTC CCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGC GCAGACCCTCACCATCCAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCT TCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTC CTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGTCCCTCCTCCT CCTCCAG	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		213		chr9	TogoVar
BRD3OS_chr9_134020481_134036587	134025267	C C	CAGCCCCT others(584): Show CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAACAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCTCC TCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTGCCCCTCCTCCTCCTC CAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCC CCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCC AGCCCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCC CAGCTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCC CAGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCAT CCGGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCC TCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTC CTCCTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG02257.hp2 others(1): Show HG01243.hp1 HG02109.hp2 HG02257.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0063 a0001c0001t0020 a0001c0001t0063	a0001c0001t0020g0001 a0001c0001t0063g0003 a0001c0001t0020g0001 a0001c0001t0063g0003	4	145	0.0276	591	c.-10 others(602): Show c.-1056_-1055insAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCA GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTG CCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCC CCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGC CCCTCCTCCTCATCCAGCCCCTCCTCCTCATCCAGCCCTTTCTCCTCTCC CAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTC CCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGC GCAGACCCTCACCATCCGGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCT TCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTC CTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCT CCTCCAG	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		213		chr9	TogoVar

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