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
PCBP3_chr21_45638725_45947450	45924678	T T	TGAGGAGA others(587): Show TGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACT GGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	185	0.0054	594	c.718 others(611): Show c.718-5211_718-5210insCGTGGGTAGAAACAGCACACGTAAGATC GGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAA CAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACA GTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGAT GCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGG GTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACA GCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGT CGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGC GAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCG CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACCGGGAACAGTCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924707	A A	AGTGGGTA others(587): Show AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAAC ACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC CGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	2	198	0.0101	594	c.718 others(611): Show c.718-5206_718-5205insGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGC ATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACA CCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGCGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924754	T T	TGAACACT others(587): Show TGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTC GCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTG AACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAA CACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	235	0.0043	594	c.718 others(611): Show c.718-5157_718-5156insTGGGAACAGTCGCATGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCG CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACAC CGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGT GAGGAGATGCGAACAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924952	C C	CGAACACT others(587): Show CGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCATGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTC GCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTG AACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGTAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0088 a0001c0004t0002g0088	1	254	0.0039	594	c.718 others(611): Show c.718-4959_718-4958insTGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCATGAGGAGATGTGAACACCGGGAACAGTCG CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGCGAACACCGGTAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTG GGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC TGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741413	G G	GCTCGCGG others(587): Show GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTG GCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCCGGGGGCTCGCGGGG GGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCG CGGGGGGCTCGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTC GCGGGGGGCTCGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGG GGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTG GCGGGGGGCTCGCGGGGCGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGG GGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0033 a0001c0001t0051g0033	1	353	0.0028	594	c.143 others(609): Show c.143-243_143-242insCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCG GGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCCGGGGGC TCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCT GGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGC TGGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGG GGGGGCTGGCGGGGGGCTCGCGGGGCGCTCGCGGGGGGGCTCGCGGGGGG CTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCG CGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGG GGCCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PNPLA7_chr9_137454952_137555402	137502730	G G	GGGGGGAC others(587): Show GGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGG GACGCGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGC GGGGGACGCGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGG GACGCGGGGGGACGCGGGGGGACGCGGGGGGACGCGGGGGGACGCGGGGG ACGGGGGGGGCGGGGGGGCCGCGGGGGGGCCGCGGGGGGGCCGCGGGGGG GCCGCGGGGGGCGGGGGGACGCGGGGGGCGCGGGGGGCGCGGGGGGCGGG GGGGGCGGGGGGACGCGGGGGGCGCGGGGGGCGCGGGGGGGCGCGGGGGG GCGCGGGGGGGGGCGGGGGGGGGCGGGGGGGGGCGCGGGGGGGACGCGGG GGACGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGACG CGGGGGGCGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGG GACGCGGGGGGACGCGGGGGACGGGGGGGCGCGGGGGGCGGGGGGGGCGG GGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGGACGC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0001 a0002c0032t0001	a0002c0032t0001g0103 a0002c0032t0001g0103	1	113	0.0088	594	c.147 others(613): Show c.1474-1004_1474-1003insGCGTCCCCCCCGTCCCCCCCGCCCCC CCCGCCCCCCCCGCCCCCCCCGCCCCCCCCGCCCCCCGCGCCCCCCCGTC CCCCGCGTCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCC CCGTCCCCCCCGCCCCCCGCGTCCCCCCCGCCCCCCCCGCCCCCCCCGCC CCCCCCGCCCCCCGCGTCCCCCGCGTCCCCCCCGCGCCCCCCCCCGCCCC CCCCCGCCCCCCCCCGCGCCCCCCCGCGCCCCCCCGCGCCCCCCGCGCCC CCCGCGTCCCCCCGCCCCCCCCGCCCCCCGCGCCCCCCGCGCCCCCCGCG TCCCCCCGCCCCCCGCGGCCCCCCCGCGGCCCCCCCGCGGCCCCCCCGCG GCCCCCCCGCCCCCCCCGTCCCCCGCGTCCCCCCGCGTCCCCCCGCGTCC CCCCGCGTCCCCCCGCGTCCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCC CGCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCGCGT CCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCC GCGTCCCCCGCGTCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(587): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGGAGAAGGA AGAAGGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAA AGAAGAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGA AGAAGAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGA AGAAGAAGGAAGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGGAAGAAGAA AGAAGAAGGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAG AAGAAGAAGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAA AAGAAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAA GAAGAAGAAAGAAGAGAAGAAAGAAAGAAGAAAGAAGAAGAAAGAAGAAA GGAAGAAGAAAAAAGGAAGAGGAAGAAAAGAAGAAGGAAGAAGAAAGAAG GAAGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGAAGAAGGAAG AAGGAAGAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0009 a0009	a0009c0030 a0009c0030	a0009c0030t0001 a0009c0030t0001	a0009c0030t0001g0124 a0009c0030t0001g0124	1	14	0.0714	594	c.147 others(613): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTCCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCTTCTTCC TTCTTCCTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTTCCT CTTCCTTTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTCTTT CTTCTCTTCTTTCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTC TTCTTCCTTCTTCCTTCTTTTTCTTCCTTCTTGTTCCTTCTTCCTTCTTC TTCCTTCTTCCTTCTTCTTCTTTCTTCCTTCTTCCTTCTCCTTCCTTCTT CCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCTTCTT TCTTCTTCTTCCTTCTTCTTCTTTCTTCCTTCTTTTTCTTCCTTCTTTTT CCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTCCT TCTTCCTTCTTCTTCTTCTTTCTGCTTCTTCTTCCTTCTTCTTCCTTCTT CTTCTTTCTTCTTCCTTCTTCCTTCTCCCTTCTTCTTTCTATTTCTTTCT TCTTCTCTCTTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
RAB11FIP3_chr16_420649_528011	467520	G G	GGGGGCGT others(587): Show GGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01952.hp1 HG01978.hp1 others(3): Show HG00544.hp1 HG01952.hp1 HG01978.hp1 HG02273.hp2 NA18612.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0017 others(2): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0017 a0001c0001t0028 a0001c0001t0056	a0001c0001t0003g0180 a0001c0001t0007g0052 a0001c0001t0017g0060 others(3): Show a0001c0001t0003g0180 a0001c0001t0007g0052 a0001c0001t0017g0060 a0001c0001t0017g0087 a0001c0001t0028g0091 a0001c0001t0056g0057	6	272	0.0221	594	c.809 others(611): Show c.809-3754_809-3753insGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
REPS2_chrX_16941658_17158272	17050119	C C	CTTCTTTC others(587): Show CTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTTCTTCCTTTCTTTCCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0070 a0001c0001t0005g0070	1	163	0.0061	594	c.908 others(611): Show c.908-2254_908-2253insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTTCTTC CTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(587): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC CGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGC CCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0011 a0001c0003t0004g0011	1	5	0.2000	594	c.880 others(611): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTC CTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGCCCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(587): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGGTCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	5	0.2000	594	c.880 others(611): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCCGCGCCTCCCTCCCGGACGG GGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT GACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGT CCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGCCCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RNF213_chr17_80255852_80403794	80355708	A A	ATGGAGGA others(587): Show ATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGGAGGAAGAAG CGGGGTGAACGGGAATGGGGTCTCAGGGAGGAAGAAGCGGGGTGGACGGG AATGGGGGCTCATGGAGGAAAAAGCGGGGTGACCGGGAATGGGGGCTTAC AGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGGAGGAAGAAGCG GGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGAATGGGA ATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATG GAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCG GGGTGACCGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGTGAACGGGAA TGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAG GGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGG GGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAA TGGGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGTCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0075 a0075	a0075c0048 a0075c0048	a0075c0048t0051 a0075c0048t0051	a0075c0048t0051g0245 a0075c0048t0051g0245	1	285	0.0035	594	c.108 others(615): Show c.10862+1132_10862+1133insTGGAGGAAGAAGCGGGGTGAACGG GAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGTCTCA GGGAGGAAGAAGCGGGGTGGACGGGAATGGGGGCTCATGGAGGAAAAAGC GGGGTGACCGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGA ATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACA GGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCG GGGTGAACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAA TGGGGGCTTACAGGGGGAAGAAGCGGGGTGACCGGGAATGGGAGCTTACA GGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGGAGGAAGAAGCGG GGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGAATGGGAA TGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAG GGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATGGAGGAAGAAGCGG GGTGAACGGGAATGGGGTCT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80355708	A A	ATGGAGGA others(587): Show ATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAA GCGGGGTGAACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGG GAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTA CAGGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGGAGGAAGAAG CGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGG AATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTAC AGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCG GGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGA ATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACA GGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGGAGGAAGAAGCG GGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGGACGGGAA TGGGGGCTTACAGGGGAAGAAGCGGGGTGGACGGGAATGGGGTCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0073 a0073	a0073c0147 a0073c0147	a0073c0147t0017 a0073c0147t0017	a0073c0147t0017g0175 a0073c0147t0017g0175	1	285	0.0035	594	c.108 others(615): Show c.10862+1132_10862+1133insTGGAGGAAGAAGCGGGGTGAATGG GAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTT ATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAG CGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGAACGG GAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTA CAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGC GGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGA ATGGGGGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACA GGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATGGAGGAAGAAGCG GGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGAACGGGA ATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACA GGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACAGGGGAAGAAGCGG GGTGGACGGGAATGGGGTCT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743821	C C	CCCTGGTT others(587): Show CCCTGGTTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTACTAGC AGAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCC CTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTA GTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCT GGTTGCTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTGCTAGCACAG CCCTGGTTACTAGCACAGCCCTGGCTACTAGTACAGCCCTGGTTACTAGC ACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02922.hp2 HG01168.hp1 HG01169.hp1 HG02922.hp2	a0001 a0001	a0001c0012 a0001c0053 a0001c0012 a0001c0053	a0001c0012t0003 a0001c0053t0006 a0001c0012t0003 a0001c0053t0006	a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0053t0006g0122 a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0053t0006g0122	3	174	0.0172	594	c.655 others(613): Show c.655-10184_655-10183insTTACTAGCACAGCCCTGGTTACGAGC ACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGG TTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAG AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCT GGTTACTAGCACTGTCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACTG TCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGT ACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743926	G G	GAGCCCTG others(587): Show GAGCCCTGGCTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGTTACG AGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGT TACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCC TGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGTTACTAGCACA GCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAG CACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTA CTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTG GCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTAT CCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCA CAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACT AGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGC TACTAGTACAGCCCTGGTTACTAGCACTGTCCTGGTTGCTAGCAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0086 a0001c0086	a0001c0086t0004 a0001c0086t0004	a0001c0086t0004g0172 a0001c0086t0004g0172	1	120	0.0083	594	c.655 others(613): Show c.655-10076_655-10075insCTACTAGCAGAGCCCTGGTTACTAGC ACAGCCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATC CTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTT ACTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCT GGTTACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACTGTCCTGGCTACTAGTACAGCCCTGGTTACTAGCACTGTCCTGG TTGCTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744475	T T	TTGCTAGC others(587): Show TTGCTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGTTACTAGCACTGTCCTGGCTACTAGTACAGCCCTGGTTACTAGCACTA TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGG CTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCC CTGGTTACTAGCACTGTCCTGGTTACTAGTACAGCCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0094 a0001c0094	a0001c0094t0057 a0001c0094t0057	a0001c0094t0057g0137 a0001c0094t0057g0137	1	146	0.0068	594	c.655 others(611): Show c.655-9534_655-9533insGCTAGCACAGCCCTGGTTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTAC TAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG TTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGTAC AGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTA TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGT ACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACTATCCTGGCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744655	T T	TTACTAGC others(587): Show TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCC CTGGTTACGAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0063 a0001c0002t0010g0063	1	179	0.0056	594	c.655 others(611): Show c.655-9352_655-9351insTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTG TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCC CTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACTGTCCTGGCTAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744752	C C	CACAGCCC others(587): Show CACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTA CTAGTACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTG GTTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGTTACTAGCACTGT CCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCA CTGTCCTGGTTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGCTACT AGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGT TACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGTACAGCCC TGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACT GTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAG CACTCTCCTGGTTACTAGCACTCTCCTGGTTACTAGCACTGTCCTGGTTA CTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTG GCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0027 a0001c0008t0027	a0001c0008t0027g0129 a0001c0008t0027g0129	1	194	0.0052	594	c.655 others(611): Show c.655-9256_655-9255insAGCCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGTTACTAGTACAGCCCTGGCTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACTG TCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGTACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCC CTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGTTACTAGCACTCTCCTGGTTACTAGCACTCTCCTGGTT ACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGCTACTAGTAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SDCCAG8_chr1_243251041_243505091	243480604	A A	ATGGATGG others(587): Show ATGGATGGATGGATGGGTGGGATGGATGGGGGATGGATGGATGGGTGGGA TGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATGGATG GGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGAT GGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGATGGA TGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGA TGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGG TGGTATGGATGGATGGGTGGTATGGATGGATGGGTGTGATGGATGGATGG ATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATG GATGGATGGATGGATGGATGGATGGGATGGATGAATGGGGGATGGATGGA TGGGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGAT GGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGAT GGATGGATGGGTGGAATGGATGGGTGGGATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	2	0.5000	594	c.198 others(613): Show c.1986-8391_1986-8390insGATGGATGGGGGATGGATGGATGGGT GGGATGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATG GATGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGAT GGATGGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGA TGGATGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGA TGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGA TGGGTGGTATGGATGGATGGGTGGTATGGATGGATGGGTGTGATGGATGG ATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGG GATGGATGGATGGATGGATGGATGGATGGGATGGATGAATGGGGGATGGA TGGATGGGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGAT GGATGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGAT GGATGGATGGATGGGTGGAATGGATGGGTGGGATGGATGGATGGATGGGT GGATGGATGGATGGGTGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431994	T T	TAGGGTGG others(587): Show TAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGATAGGG TGGAGAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGT GGACAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTG CAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAG GGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGACAGG GTGGACAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGCA GAGGGTGCAGAGGGTGCAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGG TGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGTTAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0334 a0002c0002t0001g0334	1	314	0.0032	594	c.101 others(611): Show c.1014-966_1014-965insTTAGGGTGGTTAGGGTGGTTAGGGTGGT TAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGATAGGGTGGACAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAG AGGGTGGATAGGGTGGACAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGA GGGTGGAGAGGGTGCAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTG GAGAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGG AGAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGACAGGGTGGATAGG GTGGATAGGGTGCAGAGGGTGCAGAGGGTGCAGAGGGTGGAGAGGGTGGA GAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGTT AGGGTGGACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC24A3_chr20_19207642_19727926	19663413	C C	CTCCTCCT others(587): Show CTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCTACCTCCT GCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTTCTCCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCT ACCTCCTGCACCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC ACCTCCACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0119 a0002c0006t0002g0119	1	89	0.0112	594	c.688 others(611): Show c.688-2442_688-2441insACCTCCTCCTCCTCCTCCTCCACCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT TCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCC TCCTCCTCCTCTACCTCCTGCACCTCCTCCTCTACCTCCTGCACCTCCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCACCTCCACCTCCTCCTCCACCTCCACCTCCACCTCCTC CTCCACTTCCTCCTCC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(587): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATATAGTATATATTATATATTGTATATAATATATATAGTATAT ATTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAA TATATATAGTATATATTATATATTGTATATATTATATATTGTATATATAA TATATATATTGTATATATTATATATTGTATATATAATATATATATTGTAT ATATTATATATTGTATATATAATATATATATTGTATATATTATATATTGT ATATATAATATATATATTGTATATATTATATATTGTATATATAATATATA TATTGTATATATTATATATTGTATATATAATATATATATTGTATATATTA TATATTGTATATATAATATATATATTGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0052 a0001c0004t0001g0052	1	46	0.0217	594	c.176 others(611): Show c.176-5096_176-5095insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATATTATATATACAAT ATATAATATATACAATATATATATTATATATACAATATATAATATATACA ATATATATATTATATATACAATATATAATATATACAATATATATATTATA TATACAATATATAATATATACAATATATATATTATATATACAATATATAA TATATACAATATATATATTATATATACAATATATAATATATACAATATAT AATATATACTATATATATTATATACAATATATAATATATACTATATATAT TATATACAATATATAATATATACTATATATATTATATACAATATATAATA TATACTATATATATTATATATACAATATAAAATATATATAATATATATTA GATATACAATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(587): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATATAGTATATATTATATATTGTATATAATATATATAGTATAT ATTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATATTGTATATATTATATATTGTATATATAATA TATATTGTATATATTATATATTGTATATATAATATATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATAGTATATATTATATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18951.hp2 NA19086.hp1 HG03710.hp1 NA18951.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0055 a0001c0001t0001g0109 a0001c0001t0001g0114	3	48	0.0625	594	c.176 others(611): Show c.176-5096_176-5095insTATATATACAATATATAATATATACTAT ATATATTATATATACAATATATAATATATACAATATATATATTATATATA CAATATATAATATATACAATATATATATTATATATACAATATATAATATA TACAATATATATATTATATATACAATATATAATATATACAATATATATAT TATATATACAATATATAATATATACAATATATATATTATATATACAATAT ATAATATATACAATATATATTATATATACAATATATAATATATACAATAT ATATATTATATATACAATATATAATATATACAATATATATATTATATATA CAATATATAATATATACAATATATATATTATATATACAATATATAATATA TACAATATATATATTATATATACAATATATAATATATACAATATATATAT TATATATACAATATATAATATATACAATATATAATATATACTATATATAT TATATACAATATATAATATATACTATATATATTATATACAATATATAATA TATACTATATATATTATATATACAATATAAAATATATATAATATATATTA GATATACAATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(587): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATATAGTATATATTATATATTGTATATAATATATATAGTATAT ATTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATTGTATATATTATATATTGTATATATAATATA TATATTGTATATATTATATATTGTATATATAATATATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATAGTATATATTATATATTGTATATATA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	46	0.0217	594	c.176 others(611): Show c.176-5096_176-5095insTATATATACAATATATAATATATACTAT ATATATTATATATACAATATATAATATATACAATATATATATTATATATA CAATATATAATATATACAATATATATATTATATATACAATATATAATATA TACAATATATATATTATATATACAATATATAATATATACAATATATATAT TATATATACAATATATAATATATACAATATATATATTATATATACAATAT ATAATATATACAATATATATATTATATATACAATATATAATATATACAAT ATATATTATATATACAATATATAATATATACAATATATATATTATATATA CAATATATAATATATACAATATATATATTATATATACAATATATAATATA TACAATATATATATTATATATACAATATATAATATATACAATATATATAT TATATATACAATATATAATATATACAATATATAATATATACTATATATAT TATATACAATATATAATATATACTATATATATTATATACAATATATAATA TATACTATATATATTATATATACAATATAAAATATATATAATATATATTA GATATACAATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75280139	T T	TATATATT others(587): Show TATATATTGTATATCTAATATATATTATATATATTATATATTGTATATAT AATATATATAGTATATATTATATATTGTATATAATATATATAGTATATAT TATATATTGTATATAATATATATAGTATATATTATATATTGTATATATTA TATATTGTATATATAATATATATATTGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATAATATA TATATTGTATATATTATATATTGTATATATAATATATATTGTATATATTA TATATTGTATATATAATATATATATTGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0003 a0001c0001t0009g0003	1	123	0.0081	594	c.176 others(611): Show c.176-5098_176-5097insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATTATATATACAATAT ATAATATATACAATATATATATTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATAATATATACTATATAT ATTATATACAATATATAATATATACTATATATATTATATACAATATATAA TATATACTATATATATTATATATACAATATATAATATATATAATATATAT TAGATATACAATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75280139	T T	TATATATT others(587): Show TATATATTGTATATCTAATATATATTATATATATTTTATATTGTATATAT AATATATATAGTATATATTATATATTGTATATAATATATATAGTATATAT TATATATTGTATATAATATATATAGTATATATTATATATTGTATATATTA TATATTGTATATATAATATATATATTGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATAATATA TATATTGTATATATTATATATTGTATATATAATATATATTGTATATATTA TATATTGTATATATAATATATATATTGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATACATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	123	0.0081	594	c.176 others(611): Show c.176-5098_176-5097insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATGTATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATTATATATACAATAT ATAATATATACAATATATATATTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATAATATATACTATATAT ATTATATACAATATATAATATATACTATATATATTATATACAATATATAA TATATACTATATATATTATATATACAATATAAAATATATATAATATATAT TAGATATACAATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75280139	T T	TATATATT others(587): Show TATATATTGTATATCTAATATATATTATATATATTTTATATTGTATATAT AATATATATAGTATATATTATATATTGTATATAATATATATAGTATATAT TATATATTGTATATAATATATATAGTATATATTATATATTGTATATATTA TATATTGTATATATAATATATATATTGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATAATATA TATATTGTATATATTATATATTGTATATATAATATATATTGTATATATTA TATATTGTATATATAATATATATATTGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01516.hp1 NA19005.hp2 HG00673.hp1 HG01516.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0051 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0051	3	125	0.0240	594	c.176 others(611): Show c.176-5098_176-5097insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATTATATATACAATAT ATAATATATACAATATATATATTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATAATATATACTATATAT ATTATATACAATATATAATATATACTATATATATTATATACAATATATAA TATATACTATATATATTATATATACAATATAAAATATATATAATATATAT TAGATATACAATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75280139	T T	TATATATT others(587): Show TATATATTGTATATCTAATATATATTATATATATTTTATATTGTATATAT AATATATATAGTATATATTATATATTGTATATAATATATATAGTATATAT TATATATTGTATATAATATATATAGTATATATTATATATTGTATATATTA TATATTGTATATATAATATATATATTGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATAATATA TATTGTATATATTATATATTGTATATATAATATATATATTGTATATATTA TATATTGTATATATAATATATATATTGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	123	0.0081	594	c.176 others(611): Show c.176-5098_176-5097insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATATTATATATACAAT ATATAATATATACAATATATATTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATAATATATACTATATAT ATTATATACAATATATAATATATACTATATATATTATATACAATATATAA TATATACTATATATATTATATATACAATATAAAATATATATAATATATAT TAGATATACAATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(587): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATATTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATTATATATTATAATATATAATA TATAATATATTATAATATATAATATATTATATATTATAATATATAATATA TTATATATTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAAAATATTATATTTTATAATATATAATATATTATAT TTTATAATATATAAAATATTATATTTTATAATATATAAAATATATTATAT TTTATAATATATAAAATATATTATATTTTATAATATATAATATATATTAT ATTTTATAATATATAATATATATTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	161	0.0062	594	c.17 others(613): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATTTTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATTTTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATTTTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAAAATATAATATATTATATATTATAAAATATAATATAT TATATATTATAATATATAATATATTATATATTATAATATATAATATATTA TATATTATAATATATTATATATTATATATTATAATATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATTATATATT ATAAAATATAATATATTATATATTATAATATATAATATATTATATATTAT AAAATATAATATATATTATATATTATAAAATATAATATATATTATATATT ATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(587): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATTATATATTATAATATATAATA TATAATATATTATAATATATAATATATTATATATTATAATATATAATATA TTATATATTATAATATATAATATATTATATTTTATAATATATTATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAAAATATTATATTTTATAATATATAAAATATTATAT TTTATAATATATAAAATATTATATTTTATAATATATAAAATATATTATAT TTTATAATATATAAAATATATTATATTTTATAATATATAATATATATTAT ATTTTATAATATATAATATATATTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0068 a0001c0001t0005g0068	1	161	0.0062	594	c.17 others(613): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATTTTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATAAT ATTTTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAAAATATAATATATAATATATTATAAAATATAATATAT TATATATTATAATATATAATATATTATATATTATAATATATAATATATTA TATATTATAATATATTATATATTATATATTATAATATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATTATATATT ATAAAATATAATATATTATATATTATAAAATATAATATATTATATATTAT AAAATATAATATATATTATATATTATAAAATATAATATATATTATATATT ATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNTG2_chr2_945849_1372613	1168120	G G	GGCCGCCC others(587): Show GGCCGCCCACAGACGGCAGTACTGAAGCCTACAGGCCGCCCACAGACGGC AGAACTGAAACCTACAAGCCGCCCACAGATGGCAGAACTGAAGCCTAGAA GCCACCCACAGACGGCAGAACTGAAGCCTATAGGCCGCCCACAGACGGCA GAACTGAAGCCTACAGGCCGCCCACGGATGGCAGAACTGAAACCTACAGG CCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGTCAG AACTGAAGCCTACAAGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGC CGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGGCAGA ACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCC GCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGCAGAA CTGAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCG CCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGCAGAAC TGAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAGCCTACAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0046 a0013c0018t0001g0046	1	187	0.0053	594	c.499 others(611): Show c.499+2503_499+2504insTACTGAAGCCTACAGGCCGCCCACAGAC GGCAGAACTGAAACCTACAAGCCGCCCACAGATGGCAGAACTGAAGCCTA GAAGCCACCCACAGACGGCAGAACTGAAGCCTATAGGCCGCCCACAGACG GCAGAACTGAAGCCTACAGGCCGCCCACGGATGGCAGAACTGAAACCTAC AGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGT CAGAACTGAAGCCTACAAGCCGCCCACAGACGGCAGAACTGAAGCCTAGA AGCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGGC AGAACTGAAACCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTAGAA GCCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGCA GAACTGAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAGCCTAGAAG CCGCCCACAGACGGCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGCAG AACTGAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAGCCTACAAGC CGCCCACAGACGGCAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX9_chr6_157818246_157950077	157827116	C C	AACATATA others(587): Show AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAACATATATTATAGTTTATATAATATATAAACATATAGTTTATATAA TATATAAACATATAGTTTATATAATATATAAACATATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATACACATATATTATAGTTTATATAATATATACACATATAT TATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAC ACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATA ATATATACACATATATTATAGTTTATATAATATATACACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0153 a0001c0013t0001g0153	1	47	0.0213	594	c.12+ others(609): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATA AACATATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(587): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	283	0.0035	594	c.909 others(609): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
STMN3_chr20_63634712_63658424	63641929	G G	GCCCCGCC others(587): Show GCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCG GCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCGGCCCAGTGCCC CGCCCCCTGCCTGCTGCTTGCCCTGCCCCCTCCCCGGCCCCTGCCCGCTC CGAGCTCCGCCCCGGCCCCGCCCCGGCCCAGTGCCCCGCCCCCTGCCTGC TGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTG GCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCG GCCCAGTGCCCCGCCCCCTGCCTGCTGCTTGCCCTGCCCCCTCCCCGGCC CCTGCCCGCTCCGAGCTCCGCCCCGGCCCCGCCCCGGCCCAGTGCCCCGC CCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTCCGA GCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGCCTGCTGC TTGCCCTGCCCCCTCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCCGGCC CCGCCCCGGCCCAGTGCCCCGCCCCCTGCCTGCTGCTAGCCCTGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	386	0.0026	594	c.483 others(609): Show c.483+178_483+179insGCAGGGCTAGCAGCAGGCAGGGGGCGGGGC ACTGGGCCGGGGCGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGG GAGGGGGCAGGGCAAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCG GGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGGGCT AGCAGCAGGCAGGGGGCGGGGCACTGGGCCGGGGCGGGGCCGGGGCGGAG CTCGGAGCGGGCAGGGGCCGGGGAGGGGGCAGGGCAAGCAGCAGGCAGGG GGCGGGGCACTGGGCCGGGGCGGGGCCAGGGCGGAGCTCGGAGCGGGCAG GGGCCGGGGCGGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCG GGGGCAGGGCTAGCAGCAGGCAGGGGGCGGGGCACTGGGCCGGGGCGGGG CCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGAGGGGGCAGGGCAAGC AGCAGGCAGGGGGCGGGGCACTGGGCCGGGGCGGGGCCAGGGCGGAGCTC GGAGCGGGCAGGGGCCGGGGCGGGGCCAGGGCGGAGCTCGGAGCGGGCAG GGGCCGGGGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
TBC1D16_chr17_79927343_80040872	80024453	C C	CACACCAT others(587): Show CACACCATAGACACACACCACACGCACCATAGACAAACCACACGCACCAT ACACACACCACACACCATATACACACACGCCACACACCACACACCATAGG CACACACACCACACACCACACACCATAGACATACACACCACACACCATAA GCACACACACCACACACACCATAGACACACATACCACACACCACACACCA CACACCATACCACACACCACAACACACACCATAGACACACACACCATACA CCATAGACACACATACCACACACACCATAGACACACACACTACACATCAT AGACACACACACCACACACCATAGACACACACCACACGCACCATAGACAA ACCACACACACCATACACACACCACACACCATATACACACACACCACACA CCACACACCATAGGCACACACACCACACACCACACACCATAGACACACAC ACCACACACCATAAGCACACACACCACACACACCATAGACACACATACCA CACACCACACACCATACCACACACAACACACACCATAGACACACACACCA TACACCATAGACACACATACCACACACATCATAGACACACACACT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03195.hp2 HG03225.hp1 others(3): Show HG02976.hp2 HG03195.hp2 HG03225.hp1 HG03540.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0008 a0001c0001 a0001c0007 a0001c0008	a0001c0001t0009 a0001c0001t0011 a0001c0001t0021 others(2): Show a0001c0001t0009 a0001c0001t0011 a0001c0001t0021 a0001c0007t0013 a0001c0008t0094	a0001c0001t0009g0116 a0001c0001t0009g0307 a0001c0001t0011g0294 others(3): Show a0001c0001t0009g0116 a0001c0001t0009g0307 a0001c0001t0011g0294 a0001c0001t0021g0295 a0001c0007t0013g0311 a0001c0008t0094g0306	6	51	0.1176	594	c.-62 others(613): Show c.-62-10845_-62-10844insAGTGTGTGTGTCTATGATGTGTGTGG TATGTGTGTCTATGGTGTATGGTGTGTGTGTCTATGGTGTGTGTTGTGTG TGGTATGGTGTGTGGTGTGTGGTATGTGTGTCTATGGTGTGTGTGGTGTG TGTGCTTATGGTGTGTGGTGTGTGTGTCTATGGTGTGTGGTGTGTGGTGT GTGTGCCTATGGTGTGTGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTG TGTGTATGGTGTGTGTGGTTTGTCTATGGTGCGTGTGGTGTGTGTCTATG GTGTGTGGTGTGTGTGTCTATGATGTGTAGTGTGTGTGTCTATGGTGTGT GTGGTATGTGTGTCTATGGTGTATGGTGTGTGTGTCTATGGTGTGTGTTG TGGTGTGTGGTATGGTGTGTGGTGTGTGGTGTGTGGTATGTGTGTCTATG GTGTGTGTGGTGTGTGTGCTTATGGTGTGTGGTGTGTATGTCTATGGTGT GTGGTGTGTGGTGTGTGTGCCTATGGTGTGTGGTGTGTGGCGTGTGTGTA TATGGTGTGTGGTGTGTGTATGGTGCGTGTGGTTTGTCTATGGTGCGTGT GGTGTGTGTCTATGGTGT	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11			chr17	TogoVar
TBC1D22A_chr22_46757650_47180693	46772220	T T	TACACATA others(587): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACATACACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACATACACATATATATGTATACACACACACATATATATGTATA CACACACATATATATGTATACACACACATATATATGTATACACACACATA TATATGTATACACACACATATATATGTATACACACATACATATATATGTA TACACACATACATATATATGTATACACACATACATATATATGTATACACA CATACATATATATGTATACACACATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0044 a0001c0001t0007g0044	1	104	0.0096	594	c.62+ others(609): Show c.62+9373_62+9374insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACATACACATATATATGTATACACACATACACATATATATGTA TACACACATACACATATATATGTATACACACATACACATATATATGTATA CACACATACACATATATATGTATACACACATACACATATATATGTATACA CACATACACATATATATGTATACACACATACACATATATATGTATACACA CACACATATATATGTATACACACACATATATATGTATACACACACATATA TATGTATACACACACATATATATGTATACACACACATATATATGTATACA CACATACATATATATGTATACACACATACATATATATGTATACACACATA CATATATATGTATACACACATACATATATATGTATACACACATACATATA TATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TLCD3A_chr17_727596_747968	727913	T T	TGGGCTCA others(587): Show TGGGCTCAAGTGATCCTCCCGCCTCGGCCTCCTAAAGTGCCGGGATAATA GGCAGGAGCCACCTCCTGGGCTCAAGTGATCCTCCCGCCTCGGCCTCCTA AAGTGCCGGGATAATAGGCAGGAGCCAACTCCGGGGCTCAAGTGATCCTC CCGCCTCGGCCTCCTAAAGTGCCGGGATAATAGGCAGGAGCCACCTCCTG GGCTCAAGTGATCCTCCCGCCTCGGCCTCCTAAAGTGCCGGGATAATAGG CAGGAGCCACCTCCTGGGCTCAAGTGATCCTCCCGCCTCGGCCTCCTAAA GTGCCGGGATAATAGGCAGGAGCCAACTCCGGGGCTCAAGTGATCCTCCC GCCTCGGCCTCCTAAAGTGCCGGGATAATAGGCAGGAGCCAACTCCGGGG CTCAAGTGATCCTCCCGCCTCGGCCTCCTAAAGTGCCGGGATAATAGGCA GGAGCCAACTCCGGGGCTCAAGTGATCCTCCCGCCTCGGCCTCCTAAAGT GCCGGGAAAATAGGCAGGAGCCAACTCCGGGGCTCAAGTGATCCTCCCGC CTCGGCCTCCTAAAGTGCCGGGATAATAGGCAGGAGCCAACTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	148	0.0068	594	c.-47 others(605): Show c.-4735_-4734insGGGCTCAAGTGATCCTCCCGCCTCGGCCTCCTAA AGTGCCGGGATAATAGGCAGGAGCCACCTCCTGGGCTCAAGTGATCCTCC CGCCTCGGCCTCCTAAAGTGCCGGGATAATAGGCAGGAGCCAACTCCGGG GCTCAAGTGATCCTCCCGCCTCGGCCTCCTAAAGTGCCGGGATAATAGGC AGGAGCCACCTCCTGGGCTCAAGTGATCCTCCCGCCTCGGCCTCCTAAAG TGCCGGGATAATAGGCAGGAGCCACCTCCTGGGCTCAAGTGATCCTCCCG CCTCGGCCTCCTAAAGTGCCGGGATAATAGGCAGGAGCCAACTCCGGGGC TCAAGTGATCCTCCCGCCTCGGCCTCCTAAAGTGCCGGGATAATAGGCAG GAGCCAACTCCGGGGCTCAAGTGATCCTCCCGCCTCGGCCTCCTAAAGTG CCGGGATAATAGGCAGGAGCCAACTCCGGGGCTCAAGTGATCCTCCCGCC TCGGCCTCCTAAAGTGCCGGGAAAATAGGCAGGAGCCAACTCCGGGGCTC AAGTGATCCTCCCGCCTCGGCCTCCTAAAGTGCCGGGATAATAGGCAGGA GCCAACTCCG	TLCD3A	ENSG00000167695.15	transcript	ENST00000308278.13	protein_coding		4682		chr17	TogoVar
TMPRSS2_chr21_41459305_41513158	41475639	A A	AGTGAGGG others(587): Show AGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAAGGCGTGAGTGAGGGGG GTAAGGGGATGAGTGAGGGGGTGAGGGGTGAGTGAGGGGGTGAGGGGGTG AGTGAGGGGGCGAGGGGGTGAGTGAGGAGGTGAGCGGTGTGAGTGAGGAG GTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAAGTGAGGAGGTGAGGGGG TGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGTGAGGG GGGCGAGGGGGTGAGTGAGGAGGTGAGCGGGTGAGTGAGGAGGTGAGGGG GTGAGTGAGGAGGTGGGGGGTGACTGAGGAGGTGAGGGGGTGAGTGAGGG GTGAGGGTGAGGGGTGAGGGGGTGAGGGGGTGAGTGAGGGGGCGAGGGGT GTGAGTGAGGAGGTGAGCGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGG AGGTGAGGGGTTGAGTGAGGAGGTGAGCAGGTGGGTGAGTGGATGAAGGG GTGAGTGAGGGGGTGCAGGGGGTGAGTGAGGGGGTGAGGGGTGAATGAGG GGTTGAGTAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	280	0.0036	594	c.727 others(609): Show c.727+937_727+938insCTCCTCACTCACCCCCTCACCTCCTCACTC ACCCCCTACTCAACCCCTCATTCACCCCTCACCCCCTCACTCACCCCCTG CACCCCCTCACTCACCCCTTCATCCACTCACCCACCTGCTCACCTCCTCA CTCAACCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCGCT CACCTCCTCACTCACACCCCTCGCCCCCTCACTCACCCCCTCACCCCCTC ACCCCTCACCCTCACCCCTCACTCACCCCCTCACCTCCTCAGTCACCCCC CACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCGCTCACCTCCTCA CTCACCCCCTCGCCCCCCTCACTCACCCCCTCACCCCCTCACTCACCCCC TCACCTCCTCACTCACCCCCTCACCTCCTCACTTCACCCCCTCACCTCCT CACTCACCCCCTCACCTCCTCACTCACACCGCTCACCTCCTCACTCACCC CCTCGCCCCCTCACTCACCCCCTCACCCCCTCACTCACCCCTCACCCCCT CACTCATCCCCTTACCCCCCTCACTCACGCCTTCACCCCCTCACCCCCTC ACTCACCCCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TRIM67_chr1_231157058_231226565	231202070	G G	GGAGGAGG others(587): Show GGAGGAGGAGGGGGTAGTGGAGGAGGAGGACATAGTGGAGGAGGAGGAGG AGGTGGAAGAGGAGGAGGTGGTGGCTGAGATAATGGAGGAGGAGGAGGAA GTGGTGGCAGAGGAGGAGGAGGTAGAGGAGGTAGTCATGGAGGAGGAGAT GGAGGAGGAGGAGGAGGTGGAAAAGGAGGAGGTGGTGGCTGAGATAATGG AGAAGGAGGAGGAGATGGAGGAGGAGGAAGAGGTAGCGGAGAAGGAGGAG GTAGTGGAGGAGGAGGAGGAGGTGGAAGAGGAGGAAGTGGTGGCTGAGAT AGTGGAGGAGAAGGAGGTAGTAGAGCAGGAGAAGGGGGTAATGGAGGAGG AGGACATAGTGGAGGAGGAGGAGGTGGAAGAGGAGGAGGTGGTGGCTGAG ATAATGGAGGAGGAGGAGGAGGTAATGGTGGAGGAGGAGATGGAGGAGGA GGAAGAGGTAGCGGAGGAGGAGGTAGTGGAGGAGGAGGTGGAAGAGGAGG AGGTGGTGGCTGAGATAGTGGAGGAGAAGGAGGTAGTAGAGCAGGAGAAG GGGGTAATGGAGGAGGAGGACATAGTGGAGGAGGAGGAGGTGGAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp2 HG03130.hp2 others(4): Show HG02717.hp1 HG02895.hp2 HG03130.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0114 a0001c0002t0009g0137 a0001c0002t0009g0153 others(4): Show a0001c0002t0009g0114 a0001c0002t0009g0137 a0001c0002t0009g0153 a0001c0002t0009g0170 a0001c0002t0009g0206 a0001c0002t0009g0207 a0001c0002t0009g0326	7	232	0.0302	594	c.153 others(611): Show c.1534+563_1534+564insGGGTAGTGGAGGAGGAGGACATAGTGGA GGAGGAGGAGGAGGTGGAAGAGGAGGAGGTGGTGGCTGAGATAATGGAGG AGGAGGAGGAAGTGGTGGCAGAGGAGGAGGAGGTAGAGGAGGTAGTCATG GAGGAGGAGATGGAGGAGGAGGAGGAGGTGGAAAAGGAGGAGGTGGTGGC TGAGATAATGGAGAAGGAGGAGGAGATGGAGGAGGAGGAAGAGGTAGCGG AGAAGGAGGAGGTAGTGGAGGAGGAGGAGGAGGTGGAAGAGGAGGAAGTG GTGGCTGAGATAGTGGAGGAGAAGGAGGTAGTAGAGCAGGAGAAGGGGGT AATGGAGGAGGAGGACATAGTGGAGGAGGAGGAGGTGGAAGAGGAGGAGG TGGTGGCTGAGATAATGGAGGAGGAGGAGGAGGTAATGGTGGAGGAGGAG ATGGAGGAGGAGGAAGAGGTAGCGGAGGAGGAGGTAGTGGAGGAGGAGGT GGAAGAGGAGGAGGTGGTGGCTGAGATAGTGGAGGAGAAGGAGGTAGTAG AGCAGGAGAAGGGGGTAATGGAGGAGGAGGACATAGTGGAGGAGGAGGAG GTGGAAGAGGAGGAGG	TRIM67	ENSG00000119283.16	transcript	ENST00000366653.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIML1_chr4_188134441_188152743	188152094	G G	GTGAGAAG others(587): Show GTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGAT GAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGAAGTGAGAGTGGGGCTGAG AAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGAGGGGTGAGAAGGGAAGTGAGAGTGGGGCTGAGAAGGGGA GTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGAAGTG AGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGA GAGTGGGGGTGAGAAGGGGAGTGAGAGGGGTTGAGAAGGGGAGTGAGAGT GGGGGTGAGAAGGGGAGTGAGAGAGGGGTGAGAAGGGGAGTGAGAGTGGG GGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAGTGAGAGAGGGGTTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGGGAGAGAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	200	0.0050	594	c.47 others(605): Show c.4722_*4723insTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGTGGGGATGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGAAGT GAGAGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGA GAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGA GTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTGAGAAGGGAAGTGAGAGTG GGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGG GGTGAGAAGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGG TGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGGGGTTGAG AAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTGAGAAG GGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAG TGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGGG AGAGAGGGGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4352		chr4	TogoVar
TRIP13_chr5_887884_923120	898005	G G	GCAGTCAG others(587): Show GCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATG GGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAA CAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAG TCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGC CCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGG CTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACA GGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	341	0.0029	594	c.388 others(611): Show c.388+1408_388+1409insGCAGTCAGTGTGTGGGGAAACAGGTGGA TTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTG TGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCT TCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCA GGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATT TGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTG GGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTC ATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGG CCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTG GATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGG GAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCAT TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCAT	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(587): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATAATTATATATAATAATATAATATATATTATTATATATAATAATAATAT ATATATATTATTATATATAATTATATATAATAATATAATATATATTATTA TATATAATTATATATAATAATATAAATATATTATTATATATTATTATATA TAATAATATAATATATATTATATATTATTATATATAATAATATAATATAT ATTATATATTATTATATATAATAATATAATATATATTATTATATATTATT ATATATAATAATATAATATATATTATTATATATTATTATATATAATAATA TAATATATATTATTATATATAATAATATAATATATATTATTATATATTAT TATATATAATAATATAATATATATTATTATATATAATAATATAATATATA TTATTATATATTATTATATATAATAATATAATATATATTATTATATATAA TAATATAATATATATTATTATATATTATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0043 a0001c0001t0007g0043	1	83	0.0120	594	c.392 others(611): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATATTATATTATTATAT ATAATAATATATAATAATATATATTATATTATTATATATAATAATATATA TTATATTATTATATATAATAATATATAATAATATATATTATATTATTATA TATAATAATATATATTATATTATTATATATAATAATATATAATAATATAT ATTATATTATTATATATAATAATATATAATAATATATATTATATTATTAT ATATAATAATATATAATATATATTATATTATTATATATAATAATATATAA TATATATTATATTATTATATATAATAATATATAATAATATATTTATATTA TTATATATAATTATATATAATAATATATATTATATTATTATATATAATTA TATATAATAATATATATATATTATTATTATATATAATAATATATATTATA TTATTATATATAATTATATATAATAATATATATTATATTATTATATATAA TTATATATAATAATATATATTATATTATTATATATAATAATATATAATAA TATATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UBE2J2_chr1_1248912_1278854	1248971	G G	GCGAGGGA others(587): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACCCGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	254	0.0039	594	c.62 others(605): Show c.6231_*6232insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGGGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4940		chr1	TogoVar
UBE2J2_chr1_1248912_1278854	1249037	G G	GCGAGGGA others(587): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGACAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	83	0.0120	594	c.61 others(605): Show c.6165_*6166insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGTCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4874		chr1	TogoVar
UBE2J2_chr1_1248912_1278854	1249037	G G	GCGAGGGA others(587): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00438.hp1 others(50): Show HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01258.hp1 HG01358.hp2 HG01496.hp2 HG01928.hp2 HG02004.hp1 HG02015.hp2 HG02074.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG03490.hp2 HG03704.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18943.hp2 NA18944.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18969.hp1 NA18969.hp2 NA18982.hp2 NA18983.hp2 NA18990.hp2 NA18999.hp1 NA19012.hp1 NA19056.hp1 NA19064.hp2 NA19070.hp2 NA19077.hp1 NA19087.hp1 NA19088.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0001c0004t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(48): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0309 a0001c0001t0002g0007 a0001c0001t0002g0178 a0001c0001t0003g0183 a0001c0001t0020g0188 a0001c0004t0001g0307	53	135	0.3926	594	c.61 others(605): Show c.6165_*6166insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4874		chr1	TogoVar
UBE2J2_chr1_1248912_1278854	1249037	G G	GCGAGGGA others(587): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGAGCAAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	83	0.0120	594	c.61 others(605): Show c.6165_*6166insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTTGCTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4874		chr1	TogoVar
UBE2J2_chr1_1248912_1278854	1249037	G G	GCGAGGGA others(587): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 NA18946.hp1 NA18962.hp1 others(5): Show HG01433.hp1 NA18946.hp1 NA18962.hp1 NA18971.hp2 NA18995.hp2 NA19005.hp2 NA19064.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0212 a0001c0001t0001g0234 a0001c0001t0001g0284 others(5): Show a0001c0001t0001g0212 a0001c0001t0001g0234 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0308 a0001c0001t0019g0187	8	90	0.0889	594	c.61 others(605): Show c.6165_*6166insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGCTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4874		chr1	TogoVar
UBE2J2_chr1_1248912_1278854	1249037	G G	GCGAGGGA others(587): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAGCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	83	0.0120	594	c.61 others(605): Show c.6165_*6166insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGCTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGCTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4874		chr1	TogoVar
UBE2J2_chr1_1248912_1278854	1249037	G G	GCGAGGGA others(587): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02818.hp2 HG02886.hp2 others(5): Show HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG03471.hp2 HG03540.hp2 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0190 a0001c0001t0001g0191 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196	8	90	0.0889	594	c.61 others(605): Show c.6165_*6166insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGCTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGCTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4874		chr1	TogoVar
UBE2J2_chr1_1248912_1278854	1249037	G G	GCGAGGGA others(587): Show GCGAGGGAGGCTGGGCCTCCCACTCTGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01358.hp1 HG01952.hp1 others(1): Show HG01081.hp1 HG01358.hp1 HG01952.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0267 others(1): Show a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0267 a0001c0001t0001g0278	4	86	0.0465	594	c.61 others(605): Show c.6165_*6166insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCAGAGTGGGAGGCCCA GCCTCCCTCG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4874		chr1	TogoVar

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