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
EFNA2_chr19_1280873_1306431	1282324	G G	GGGGGAAG others(628): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGT GTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAG GAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGA GGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTG TGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGG TGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAA AAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA19074.hp1 NA19088.hp1 NA18971.hp1 NA19074.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0031g0097 a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0031g0097	3	17	0.1765	635	c.-38 others(646): Show c.-3845_-3844insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGA GGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGG GAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGG AGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGG AGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGG AGGGAGGGAGGAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAG GGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAA T	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3548		chr19	TogoVar
EIF3B_chr7_2349827_2385745	2378377	C C	CTCCTGGG others(628): Show CTCCTGGGAAGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGG AGCAGGCGCGAGTGCTGCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGT GTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAAGCCGTGTTGTGT GAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGTGCTGCTGGG AAGCCGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCG CGAGTGCTGCTGGGAATCCGTGTTGTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAAGCCGTG TTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGTGCT GCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAG CAGGCGCGAGTGCTGCTGGGAAGCTGTGTTGTGTGAATGACCCTGGGTGT CGAGGAAGGAGAAGGCGCGAGCACTGCTGGGATGCTGTGTTGTGTGAATG ACCCTCGGTGTCATGGAGGAAGGAACAGGCGAGCGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	230	0.0043	635	c.215 others(652): Show c.2155-304_2155-303insAGCTGTGTTGTGTGAATGACCCTGGGTG TCAAGGAGGAAGGAGCAGGCGCGAGTGCTGCTGGGAAGCCGTGTTGTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGA AGCCGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGC GAGTGCTGCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCAAGGAG GAAGGAGCAGGCGCGAGTGCTGCTGGGAATCCGTGTTGTGTGAATGACCC TGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAATCCGTGT TCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCTCTT CTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGC AGGCGCGAGTGCTGCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTC AAGGAGGAAGGAGCAGGCGCGAGTGCTGCTGGGAAGCTGTGTTGTGTGAA TGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTGCTGGGATGCTG TGTTGTGTGAATGACCCTCGGTGTCATGGAGGAAGGAACAGGCGAGCGTT CCTGGGA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378450	A A	ATCCGTGT others(628): Show ATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGC GAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAG GAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCC TGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGT TCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTC CTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGC AGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTC ATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAA TGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAAT CCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGA GCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGG AGAAGGCGCGAGCACTGCTGGGATGCTGTGTTGTGTGAATGACCCTCGGT GTCATGGAGGAAGGAACAGGCGAGCGCTCCTGGGAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	215	0.0047	635	c.215 others(652): Show c.2155-239_2155-238insTCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAT GCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA AGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAAT GACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTGCTGGGATGCTGT GTTGTGTGAATGACCCTCGGTGTCATGGAGGAAGGAACAGGCGAGCGCTC CTGGGAT	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18			chr7	TogoVar
FAM174C_chr19_1270530_1284228	1282324	G G	GGGGGAAG others(628): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGT GTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAG GAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGA GGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTG TGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGG TGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAA AAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18973.hp2 NA19088.hp1 NA18971.hp2 NA18973.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	3	13	0.2308	635	c.35 others(646): Show c.3547_*3548insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGA GGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGG GAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGG AGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGG AGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAG GGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGG AGGGAGGGAGGAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAG GGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAA T	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3097		chr19	TogoVar
FKBP2_chr11_64236095_64249132	64237115	G G	GGGAGAGG others(628): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAG AGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAG AGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	323	0.0031	635	c.-40 others(646): Show c.-4022_-4021insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGA C	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3979		chr11	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(628): Show TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTC TCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCT CCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCT CCTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0079 a0001c0079	a0001c0079t0004 a0001c0079t0004	a0001c0079t0004g0028 a0001c0079t0004g0028	1	212	0.0047	635	c.633 others(652): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCC TGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTTCCTCCTC TCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
KCNG2_chr18_79792938_79905100	79886450	C C	CGGGGACA others(628): Show CGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGAC GTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACA TAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGAT GGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGA TGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGAC AGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGAC ACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACA TGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGAC GGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACG TGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACAT AGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATG GGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGAT GGGGATGGGAACATAGGGACGTGGGGACGGGGACAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0010 a0001c0005t0001g0010	1	273	0.0037	635	c.625 others(654): Show c.625-12590_625-12589insGGGGACATGGGGACACGGGACAGGGA GATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGG ACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGG ACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGA CATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGG ACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGA CGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAAC ATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGA TGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAG ATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGA CAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGA CACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGAC ATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGA CGGGGACAT	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3			chr18	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATAT others(628): Show ATATATATTATTTATATATATATTTATATATATTTATATATATTTATATA TATATTTATATATATTTATATATATTTATATATATATTTATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TATTTATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATATTTATATATATTTATATATATATATTTATATATATATATTTT TATATATATTTATATATATTTTTATATATAGTTATATATATTTATATATA GTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATA GTTATATATATAGTTATATATAGTTATATATATATTTATATATATATATT TTTATATATATATTTATATATATATATTTTTATATATATATTTATATATA TTTATATATATTTATATATATAAATATATATATATTTATATATATATTTA TATATATAAATATATATATATTTATATATATATTTATATATATTTATATA TATTTATATATTTATATATGTATTTATATATATTTATATATGTATTTATA TATATTTATATATAATTATATGTATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp2 HG02615.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0208 a0001c0001t0001g0209	2	81	0.0247	635	c.125 others(652): Show c.125+9673_125+9674insATATTATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATTTATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATATTTATATATATTTATATATATTTATATATA TATTTATATATATATTTATATATATATTTATATATATTTATATATATATA TTTATATATATATATTTTTATATATATTTATATATATTTTTATATATAGT TATATATATTTATATATAGTTATATATATTTATGTATAGTTATATATAGT TATGTATAGTTATATATAGTTATATATATAGTTATATATAGTTATATATA TATTTATATATATATATTTTTATATATATATTTATATATATATATTTTTA TATATATATTTATATATATTTATATATATTTATATATATAAATATATATA TATTTATATATATATTTATATATATAAATATATATATATTTATATATATA TTTATATATATTTATATATATTTATATATTTATATATGTATTTATATATA TTTATATATGTATTTATATATATTTATATATAATTATATGTATTTATATA TATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LOC114841035_chr11_64236095_64249132	64237115	G G	GGGAGAGG others(628): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAG AGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAG AGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	321	0.0031	635	c.-41 others(646): Show c.-4165_-4164insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGA C	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3979		chr11	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(628): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATATAATATAATTATATAATATATAATTATATTCTATATAGAATA TAATTATATAATATATAATTATATTCTATATTATATAATTATAATATAAT TATATAATATAATTATATTATATATAATTATATTAAATATATGATATAAT ATATAATTATATTATATATGATATAATATATAATTATATTATATATTATA TCATATATAATTATATTATATATTATATCATATATAATTATATTATATAT TATATCATATATAATTATATTATATATTATATCATATATAATTATATTAT ATATTATATCATATATAATTATATTATATATTATATCATATATAATTATA TTATATATTATAATACATTTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAATAGTATTATAATATATAATATATTATATATAATT ATATTATAACATATTATATATAATTATATTATAGATCATAATCTATAATA TAATTATATATAATATGTTATAATATATAATTATATTCTATATATAATTA TATATAATATAATTATATTCTATATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18988.hp1 NA19000.hp1 others(1): Show NA18983.hp2 NA18988.hp1 NA19000.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	111	0.0360	635	c.-32 others(646): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATGATATAATATATAATATAATTATATATGATATAAT ATATAATATAATTATATATGATATAATATATAATATAATTATATATGATA TAATATATAATATAATTATATATGATATAATATATAATATAATTATATAT GATATAATATATAATATAATTATATATTATATCATATATAATATAATTAT ATATTATATCATATATTTAATATAATTATATATAATATAATTATATTATA TAATTATATTATAATTATATAATATAGAATATAATTATATATTATATAAT TATATTCTATATAGAATATAATTATATATTATATAATTATATTATATAGA ATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATA T	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(628): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATATAATATAATTATATAATATATAATTATATTCTATATAGAATA TAATTATATAATATATAATTATATTCTATATTATATAATTATAATATAAT TATATAATATAATTATATTATATATAATTATATTAAATATATGATATACT ATATAATTATATTATATATGATATAATATATAATTATATTATATATTATA TCATATATAATTATATTATATATTATATCATATATAATTATATTATATAT TATATCATATATAATTATATTATATATTATATCATATATAATTATATTAT ATATTATATCATATATAATTATATTATATATTATATCATATATAATTATA TTATATATTATAATACATTTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAATAGTATTATAATATATAATATATTATATATAATT ATATTATAACATATTATATATAATTATATTATAGATCATAATCTATAATA TAATTATATATAATATGTTATAATATATAATTATATTCTATATATAATTA TATATAATATAATTATATTCTATATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18976.hp1 NA18976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	635	c.-32 others(646): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATGATATAATATATAATATAATTATATATGATATAAT ATATAATATAATTATATATGATATAATATATAATATAATTATATATGATA TAATATATAATATAATTATATATGATATAATATATAATATAATTATATAT GATATAATATATAATATAATTATATATTATATCATATATAATATAATTAT ATAGTATATCATATATTTAATATAATTATATATAATATAATTATATTATA TAATTATATTATAATTATATAATATAGAATATAATTATATATTATATAAT TATATTCTATATAGAATATAATTATATATTATATAATTATATTATATAGA ATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATA T	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(628): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATATAATATAATTATATAATATATAATTATATTCTATATAGAATA TAATTATATAATATATAATTATATTCTATATTATATAATTATAATATAAT TATATAATATAATTATATTATATATAATTATATTAAATATATTATATAAT ATATAATTATATTATATATGATATAATATATAATTATATTATATATGATA TAATATATAATTATATTATATATTATATCATATATAATTATATTATATAT TATATCATATATAATTATATTATATATTATATCATATATAATTATATTAT ATATTATATCATATATAATTATATTATATATTATATCATATATAATTATA TTATATATTATAATACATTTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAATAGTATTATAATATATAATATATTATATATAATT ATATTATAACATATTATATATAATTATATTATAGATCATAATCTATAATA TAATTATATATAATATGTTATAATATATAATTATATTCTATATATAATTA TATATAATATAATTATATTCTATATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	635	c.-32 others(646): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATGATATAATATATAATATAATTATATATGATATAAT ATATAATATAATTATATATGATATAATATATAATATAATTATATATGATA TAATATATAATATAATTATATATGATATAATATATAATATAATTATATAT TATATCATATATAATATAATTATATATTATATCATATATAATATAATTAT ATATTATATAATATATTTAATATAATTATATATAATATAATTATATTATA TAATTATATTATAATTATATAATATAGAATATAATTATATATTATATAAT TATATTCTATATAGAATATAATTATATATTATATAATTATATTATATAGA ATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATA T	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(628): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATATAATATAATTATATAATATATAATTATATTCTATATAGAATA TAATTATATAATATATAATTATATTCTATATTATATAATTATAATATAAT TATATAATATAATTATATTATATATAATTATATTAAATATATTATATAAT ATATAATTATATTATATATGATATAATATATAATTATATTATATATTATA TAATATATAATTATATTATATATTATATCATATATAATTATATTATATAT TATATCATATATAATTATATTATATATTATATCATATATAATTATATTAT ATATTATATCATATATAATTATATTATATATTATATCATATATAATTATA TTATATATTATAATACATTTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAATAGTATTATAATATATAATATATTATATATAATT ATATTATAACATATTATATATAATTATATTATAGATCATAATCTATAATA TAATTATATATAATATGTTATAATATATAATTATATTCTATATATAATTA TATATAATATAATTATATTCTATATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	635	c.-32 others(646): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATGATATAATATATAATATAATTATATATGATATAAT ATATAATATAATTATATATGATATAATATATAATATAATTATATATGATA TAATATATAATATAATTATATATGATATAATATATAATATAATTATATAT TATATAATATATAATATAATTATATATTATATCATATATAATATAATTAT ATATTATATAATATATTTAATATAATTATATATAATATAATTATATTATA TAATTATATTATAATTATATAATATAGAATATAATTATATATTATATAAT TATATTCTATATAGAATATAATTATATATTATATAATTATATTATATAGA ATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATA T	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(628): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATATAATATAATTATATAATATATAATTATATTCTATATAGAATA TAATTATATAATATATAATTATATTCTATATTATATAATTATAATATAAT TATATAATATAATTATATTGTATATAATTATATTAAATATATTATATAAT ATATAATTATATTATATATTATATAATATATAATTATATTATATATTATA TAATATATAATTATATTATATATTATATAATATATAATTATATTATATAT TATATAATATATAATTATATTATATATTATATAATATATAATTATATTAT ATATTATATAATATATAATTATATTATATATTATATAATATATAATTATA TTATATATTATAATACATTTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAATAGTATTATAATATATAATATATTATATATAATT ATATTATAACATATTATATATAATTATATTATAGATCATAATCTATAATA TAATTATATATAATATGTTATAATATATAATTATATTCTATATATAATTA TATATAATATAATTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	635	c.-32 others(646): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATATATTATATAATATATAATATAATTATATATTATA TAATATATAATATAATTATATATTATATAATATATAATATAATTATATAT TATATAATATATAATATAATTATATATTATATAATATATAATATAATTAT ATATTATATAATATATTTAATATAATTATATACAATATAATTATATTATA TAATTATATTATAATTATATAATATAGAATATAATTATATATTATATAAT TATATTCTATATAGAATATAATTATATATTATATAATTATATTATATAGA ATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATATA T	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(628): Show AATATATAATTATATTCTATATAGAATATAATTATATATTATATAATTAT ATTCTATATAATATAATTATATAATATATAATTATATTCTATATAGAATA TAATTATATAATATATAATTATATTCTATATTATATAATTATAATATAAT TATATAATATAATTATATTATATATAATTATATTAAATATATTATATAAT ATATAATTATATTATATATGATATAATATATAATTATATTATATATTATA TCATATATAATTATATTATATATTATATCATATATAATTATATTATATAT TATATCATATATAATTATATTATATATTATATCATATATAATTATATTAT ATATTATATCATATATAATTATATTATATATTATATCATATATAATTATA TTATATATTATAATACATTTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAATAGTATTATAATATATAATATATTATATATAATT ATATTATAACATATTATATATAATTATATTATAGATCATAATCTATAATA TAATTATATATAATATGTTATAATATATAATTATATTCTATATATAATTA TATATAATATAATTATATTCTATATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	635	c.-32 others(646): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATGATATAATATATAATATAATTATATATGATATAAT ATATAATATAATTATATATGATATAATATATAATATAATTATATATGATA TAATATATAATATAATTATATATGATATAATATATAATATAATTATATAT GATATAATATATAATATAATTATATATTATATCATATATAATATAATTAT ATATTATATAATATATTTAATATAATTATATATAATATAATTATATTATA TAATTATATTATAATTATATAATATAGAATATAATTATATATTATATAAT TATATTCTATATAGAATATAATTATATATTATATAATTATATTATATAGA ATATAATTATATAATATATAATTATATTCTATATAGAATATAATTATATA T	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(628): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCCTCCCCTCCCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCTCCT CCCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCCTCCCCTC CCCCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTCCC TTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGCCTC CCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCC CCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCC CTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCC CTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCC CCTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTT GCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCC CCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTC CCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0010 a0002c0002t0003g0010	1	8	0.1250	635	c.115 others(652): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCT CCTCCCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCCTCCC CTCCCCCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCT CCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGC CTCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTT CCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCC CCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCG CCCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCT CCCCCTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTG CTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCC TCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCT CTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCACCCCTCCCCTCC CCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(628): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCCTCCCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCTCCT CCCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCCTCCCCTC CCCCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTCCC TTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGCCTC CCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCC CCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCC CTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCC CTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCC CCTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTT GCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCC CCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTC CCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0007 a0002c0002t0003g0007	1	8	0.1250	635	c.115 others(652): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCCTCCCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCT CCTCCCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCCTCCC CTCCCCCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCT CCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGC CTCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTT CCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCC CCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCG CCCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCT CCCCCTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTG CTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCC TCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCT CTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCACCCCTCCCCTCC CCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(628): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCG CTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCAC TAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	130	0.0077	635	c.148 others(654): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCAC TCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCATCCATCCTAGCGC TGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCC AGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACT CCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(628): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCAC TAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	130	0.0077	635	c.148 others(654): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCA TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGC TGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCC AGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACT CCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(628): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGA AGGCGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGC TAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGATGG AGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCTTCCAGCGC TAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGG AGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0021 a0001c0003t0001g0021	1	130	0.0077	635	c.148 others(654): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCA CTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCA CTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGTG CTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCA TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGC TGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCC AGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACT CCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(628): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCAC TAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18974.hp2 HG01123.hp1 NA18974.hp2	a0001 a0108 a0001 a0108	a0001c0018 a0108c0101 a0001c0018 a0108c0101	a0001c0018t0001 a0108c0101t0001 a0001c0018t0001 a0108c0101t0001	a0001c0018t0001g0036 a0108c0101t0001g0126 a0001c0018t0001g0036 a0108c0101t0001g0126	2	131	0.0153	635	c.148 others(654): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCA TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGC TGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCC AGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACT CCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(628): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAT ATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATAT TTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	196	0.0051	635	c.-28 others(646): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT C	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NRCAM_chr7_108142649_108461436	108164029	G G	GTGAGAGG others(628): Show GTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTG GGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGT CATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGT AGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGG TGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGG TCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCG GTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAG GTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAG GTCATACCGGGTGGGGTGGCAGTAATGAGAGGTCATACCAGGTGGGGTGG GGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCG GGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAG AGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTG GGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	150	0.0067	635	c.346 others(654): Show c.3466+2891_3466+2892insTTACCCCACCCCACCCGGTATGACCT CTCACTACCCCACCCCACCTGGTATGACCTCTCACTACCCCACCCCACCT GGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCATTACCG CCACCCCACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACC TCTCACTACCCCACCCCACCTGGTATGACCTCTCATTACTGCCACCCCAC CCGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCACTAC CCCACCCCACCTGGTATGACCTCTCACTACCCCACCCCACCTGGTATGAC CTCTCATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCA CCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCACTA CCCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCCACCCGGTATG ACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCACTACCCCACCCC ACCTGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCATT ACCGCCACCCCACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTAT GACCTCTCA	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(628): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG TCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGC CGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGG GGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0047 a0001c0001t0013g0047	1	59	0.0169	635	c.155 others(654): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(628): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTATAGAGTATATATACTATATATACTCTATA GTATATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	254	0.0039	635	c.-16 others(646): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATAC TATATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATAG TATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAG TATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAG TATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAG T	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(628): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTATAGA GTATATATACTATATATACTCTATAGTATATATAGTATATATACTATAGA GTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	254	0.0039	635	c.-16 others(646): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTATAGAGTATATATACTATATATACTCTATAGTATATATAG TATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATAG TATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAG TATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAG T	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(628): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGTGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGGCAGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0022 a0001c0013t0022	a0001c0013t0022g0081 a0001c0013t0022g0081	1	81	0.0123	635	c.633 others(652): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCTCTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCAACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(628): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAGAAAGAAAGA AAGAAAGAAAGAAAGAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAG AAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGA AAGAAGAAAAGAAAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAA GAAGAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAGAAGAAGGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAA GGAAAGAAAGCAAAAAAAGAAAGAAAGAAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0143	1	202	0.0050	635	c.20- others(650): Show c.20-3989_20-3988insTTCTTCTTTCTTTCTTTCTTTTTTTGCTTT CTTTCCTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCCTTCTTCTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTC TTCTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTTTCTTTT CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTCTCTTTCTTTCTTTCCTTTCTTTCTTTCT TTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTCTTTCTTTC TTTCTTTCTTTCTTTCTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PLEKHG4B_chr5_87168_194966	101556	A A	AAAAAGCC others(628): Show AAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCC TGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAG CCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATA AAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCAT ATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATC CATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAA ATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGG TTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTG AGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTT GTGAGGTAAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACT GTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGAAAGA CTGTTGTGAGGTTAATCCATATAAAGCCCTGGAGAAAGTCTGTAGGGGAG AGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0067 a0001c0007t0067	a0001c0007t0067g0146 a0001c0007t0067g0146	1	205	0.0049	635	c.45+ others(650): Show c.45+9285_45+9286insCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT TAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTG TTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGA CTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAG AGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGG GAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTA GGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGAAAAAGCCT GTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAG TCTGTAGGGAAAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAGAA AGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGG AAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(628): Show AGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCA TCTCTGAGCTTTTCTCTGAGGAGCATGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGCATGAC TTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTC CTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0050 a0001c0002t0005g0050	1	210	0.0048	635	c.227 others(652): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGCATGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGC TTTTCTCTGAGGAGCATGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTG AGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTG TCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGG GGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTC TCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RASGEF1C_chr5_180095795_180214211	180134844	C C	CCATCCAC others(628): Show CCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCC ACCCACCCACCCATCCACCTTCCCCTCCATCTATTCACCCATCCACCCAC CCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCC CTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCAT CTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTC ACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATTTATTCAACCTC CCACCCACCAACCCATCCACCTTCCCCTCTATCTATTCAACTATTCAACC ACCCACCCACCCACCCACCATCCATCCACCTTCCGCTCCACCTATTCACC CATCCACCCACCCACCCATCTACCTTTCTCTCCACCTATTCACCCATCCA CCCACCCACCCATCTACCTTCCTCTCCATCTATTCAACTATCCACCCACC CACCCACCTATCCACTTTCCCCTCCATCTATTCAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0355 a0001c0002t0008g0355	1	2	0.5000	635	c.438 others(652): Show c.438+1533_438+1534insTTTGAATAGATGGAGGGGAAAGTGGATA GGTGGGTGGGTGGGTGGATAGTTGAATAGATGGAGAGGAAGGTAGATGGG TGGGTGGGTGGATGGGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTG GGTGGATGGGTGAATAGGTGGAGCGGAAGGTGGATGGATGGTGGGTGGGT GGGTGGGTGGTTGAATAGTTGAATAGATAGAGGGGAAGGTGGATGGGTTG GTGGGTGGGAGGTTGAATAAATGGAGGGGAAGGTGGATGGGTGGGTGGGT GGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGG GTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGT AGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGG AGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGA AGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGG ATGGGTGGGTGGGTGGATGGGTGAATAGATGGAGGGGAAGGTGGATGGGT GGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGG GTGGATG	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13			chr5	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(628): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0232 a0001c0002t0001g0232	1	81	0.0123	635	c.132 others(652): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(628): Show ATGTATACATATAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGCACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATATATGTATATATAATATATACATATATACATGTATATA TTATACATGTATATATTAATATATAATATATAGTATATATATACATGTAT ATATTATATATAAAGTATATATTATATATACGTGTATACAATATATATAC GTGTATATATATTATATACACGTATATATAATATATTGTATACAGGTATA TATACATGTATATAATATATATGTATATATAATATATTGTATACATGTAT ATATATACATGATATATACACATATATATCGTGTATATATACACATATAT GTATATATATACATGATATATACATACATATATATCATGTGTATATATAT ACATAATATACACGTATATATACATACATATATACATGTATATATACACA TATATACATACATATATATACATGTATATATACACACATATATATGTGTA TGTATATGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATA TATATAATTTTACAACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0162 a0001c0003t0001g0162	1	121	0.0083	635	c.59- others(652): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATACACACACACACACACACACACACA CATATACATACACATATATATGTGTGTATATATACATGTATATATATGTA TGTATATATGTGTATATATACATGTATATATGTATGTATATATACGTGTA TATTATGTATATATATACACATGATATATATGTATGTATATATCATGTAT ATATATACATATATGTGTATATATACACGATATATATGTGTATATATCAT GTATATATATACATGTATACAATATATTATATATACATATATATTATATA CATGTATATATACCTGTATACAATATATTATATATACGTGTATATAATAT ATATACACGTATATATATTGTATACACGTATATATAATATATACTTTATA TATAATATATACATGTATATATATACTATATATTATATATTAATATATAC ATGTATAATATATACATGTATATATGTATATATTATATATACATATATGT ATATATTATATATACATATATATGTATATATAATATATACATATATGTGC ATATAATATACATGTCTATATGTATATATATTATACATACATGTCTATAT GTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(628): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGCAGATCACCTGAGGTCGGGAGCT GGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATATT AAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGGG AGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGA GCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCC GTCTCAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTTTTT TGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCAATC TCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGGCTC AGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGCTAA TTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGT CTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0306 a0003c0003t0001g0306	1	183	0.0055	635	c.684 others(650): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGAT CTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCT CAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCTA ATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTG GCCTCCAGCTCCCGACCTCAGGTGATCTGCCGCCTCGGCCTCCCAAAGTG CCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTAAT ATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCACTTGG GAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(628): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTAA TCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGCT GGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATATT AAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGGG AGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGA GCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCC GTCTCAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTTTTT TGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCAATC TCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGGCTC AGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGCTAA TTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGT CTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0168 a0003c0003t0001g0168	1	183	0.0055	635	c.684 others(650): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGAT CTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCT CAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCTA ATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTG GCCTCCAGCTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGT GCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTAAT ATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCACTTGG GAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(628): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTC GGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGG GGGGTCGGCCCCCCTGCCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18953.hp1 HG00673.hp1 NA18953.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0120 a0001c0003t0002g0168 a0001c0003t0002g0120 a0001c0003t0002g0168	2	106	0.0189	635	c.284 others(654): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CAGGGGGGCCGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(628): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCACCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCTATCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCCA CCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0017 a0001c0001t0058g0017	1	40	0.0250	635	c.77- others(652): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTACCTCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCACCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCT ATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTC CCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCC CCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCC CTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356680	T T	TCCCCCTC others(628): Show TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCCCCCACCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCCCTCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC ACCACCCCCTTCCCCCTCCCCCCTCCCTCCCCCCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCCCTTTCCCTTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0001 a0002c0002t0024g0001	1	141	0.0071	635	c.77- others(652): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCACCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCTATCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCACCACCCCCTTCCCCCTCCCCCCTCCCTCCCCCC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTTTCCCTTCCCCTCCCC TCCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(628): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCACCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCTATCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCCA CCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0056 a0001c0001t0020g0056	1	45	0.0222	635	c.22+ others(652): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTACCTCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCACCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCT ATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTC CCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCC CCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCC CTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356680	T T	TCCCCCTC others(628): Show TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCCCCCACCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCCCTCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC ACCACCCCCTTCCCCCTCCCCCCTCCCTCCCCCCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCCCTTTCCCTTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0103 a0002c0002t0012g0103	1	148	0.0068	635	c.22+ others(652): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCACCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCTATCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCACCACCCCCTTCCCCCTCCCCCCTCCCTCCCCCC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTTTCCCTTCCCCTCCCC TCCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(628): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTGTATATATACACATATAAAATATATATACATAT GTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTTTA TATGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTG TATATATACACATATAAAATATATATACATATGTTTTATATGTGTATATA TACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACA TATAAAATATATATACATATGTTTTATATGTATATATACATATAAAATAT ATATACATATGTTTTATATGTATATATATACATATAAAATATATATACAT ATAAAATATATACATATAAAATATATATGTTTTATATGTATATATACATA TAAAATATATATACATATGTTTTATATGTATATATATACATATAAAACAT ATATACATATGTTTTATATGTGTATATATACATAGAAAATATATATAATA TATATACATATGTTTTATATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	158	0.0063	635	c.626 others(652): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTGTATATATACACATATA AAATATATATACATATGTTTTATATGTATATATACATATAAAATATATAT ACATATGTTTTATATGTATATATATACATATAAAATATATATACATATAA AATATATACATATAAAATATATATGTTTTATATGTATATATACATATAAA ATATATATACATATGTTTTATATGTATATATATACATATAAAACATATAT ACATATGTTTTATATGTGTATATATACATAGAAAATATATATAATATATA TACATATGTTTTATATGTATATATATACATAGAAAATATATATACATATG TTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC16A3_chr17_82224042_82245086	82227685	C C	CACCACCC others(628): Show CACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCAC CCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCC TGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCG GGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCA CCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCC GCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTG GGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGG AGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACC ACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGC CCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGG CGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAG CACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCAC CCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0278 a0001c0001t0006g0278	1	375	0.0027	635	c.-14 others(646): Show c.-1448_-1447insACCACCCGCCCTGGGCGGGAGCACCACCCGCCCT GGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGG GAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCAC CACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCG CCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGG GCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGA GCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCA CCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCC CTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGC GGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGC ACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACC CGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCT GGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGG G	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1356		chr17	TogoVar
SLC45A4_chr8_141202174_141313288	141203363	G G	GAGAGAGA others(628): Show GAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGAGAGAGGAGAGA GAGGGAGAGAGAGACCGTGGAGAGAGGGAGAGGGAGACGTGGAGAGAGAG AGAGAGAGAGGGAGAGAGAGAGAGAGGAGAGAGGGAGAGAGGAGAGAGGG AGAGAGAGACCGTGGAGAGAGGAGAGGGAGACCGTGGAGAGAGAGAGAGA GAGAGGGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGAGAGAGGGAGAG AGGGAGAGAGAGACCGTGGAGAGAGGGAGAGGGAGACCGTGGAGAGAGAG AGAGAGAGGAGAGAGGGAGAGAGGGAGAGAGGAGAGAGGGAGAGAGGGAG AGAGGGAGAGAGAGAGAGAGGGAGAGGGAGACCGTGGAGAGAGGGAGAGG GAGAGGGAGAGGGAGACCGTGGAGAGAGGGAGAGGAGAGGGAGACGTGGA GAGAGAGAGAGGAGATGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAG AGAGAGAGAGGGAGACCGTGGAGAGAGAGAGAGAGAGGGAGAGGGAGAGA GGGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGACCGTGGAGGAGA GAGAGAGAGAGAGAAGAGAGAGAGAGAGACCGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0061 a0002c0001t0001g0061	1	186	0.0054	635	c.82 others(646): Show c.8208_*8209insTCCACGGTCTCTCTCTCTCTCTTCTCTCTCTCTC TCTCTCCTCCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTC CCTCTCTCCCTCTCCCTCTCTCTCTCTCTCTCCACGGTCTCCCTCTCTCT CTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCATCTCCTCTCTCTC TCTCCACGTCTCCCTCTCCTCTCCCTCTCTCCACGGTCTCCCTCTCCCTC TCCCTCTCCCTCTCTCCACGGTCTCCCTCTCCCTCTCTCTCTCTCTCCCT CTCTCCCTCTCTCCCTCTCTCCTCTCTCCCTCTCTCCCTCTCTCCTCTCT CTCTCTCTCTCCACGGTCTCCCTCTCCCTCTCTCCACGGTCTCTCTCTCC CTCTCTCCCTCTCTCCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCCCTC TCTCTCTCTCTCTCTCCACGGTCTCCCTCTCCTCTCTCCACGGTCTCTCT CTCCCTCTCTCCTCTCTCCCTCTCTCCTCTCTCTCTCTCTCCCTCTCTCT CTCTCTCTCTCCACGTCTCCCTCTCCCTCTCTCCACGGTCTCTCTCTCCC TCTCTCTCCTCTCTCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCTCTC T	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3810		chr8	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(628): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGAGGAGAGGGGAGGGG GAAGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGG GGGAGGGGGAGGGGGAGGGGGGGGAGGGAGGGGGAGGGGGAGGGGAGGAG GGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGG AGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAG GAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGA GGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGAGAG GGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG03130.hp1 HG02809.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	4	0.5000	635	c.12 others(646): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCC CCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCC CCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCC TCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCC CCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTC CTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCT CCCTCCTCCCCTCCCCCTCCCCCTCCCTCCCCCCCCTCCCCCTCCCCCTC CCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCATCCCCCT TCCCCCTCCCCTCTCCTCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCC TCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACC TCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTC CCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCC C	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMYD3_chr1_245744347_246512279	246243972	G G	GGCTGAAG others(628): Show GGCTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTG CTATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCC ACTGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AGCTGGTCTCAGTGGCTCATGCCTGTAATACTTGCATATCTTGGGATGGC AAGGAGGGAGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGGCAAC ACACTGAGATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATGGTGCA TGCCTGCAGTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGCTTGAG CCCAGGAAGTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCACTCCAG CCAAGGTGACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAGGCCA ACCAATTTCCCAATCTAATGTGAAATATAAACTGAAGTGTAGCCTGTCAT TTTTAAAAACTTCATACTCTATACATGCATACTTTTTGGTAATCAAATTT ATAACGTGTGTCTAGGCAACCACACATTCAACAGACTACCACGACAGATT TTGCCTAGCACTGTGGTTTAAGAGAAGGATAACTAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01243.hp1 HG02559.hp2 others(2): Show HG00733.hp2 HG01243.hp1 HG02559.hp2 HG02717.hp1 NA18522.hp1	a0002 a0002	a0002c0007 a0002c0008 a0002c0007 a0002c0008	a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 others(1): Show a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002	a0002c0007t0001g0137 a0002c0007t0001g0141 a0002c0007t0004g0111 others(2): Show a0002c0007t0001g0137 a0002c0007t0001g0141 a0002c0007t0004g0111 a0002c0008t0001g0145 a0002c0008t0002g0142	5	102	0.0490	635	c.531 others(654): Show c.531+83228_531+83229insATAGTTATCCTTCTCTTAAACCACAG TGCTAGGCAAAATCTGTCGTGGTAGTCTGTTGAATGTGTGGTTGCCTAGA CACACGTTATAAATTTGATTACCAAAAAGTATGCATGTATAGAGTATGAA GTTTTTAAAAATGACAGGCTACACTTCAGTTTATATTTCACATTAGATTG GGAAATTGGTTGGCCTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTG GTCACCTTGGCTGGAGTGCAGTGGCAATAACACAGCTCACTGTAGCCTTG ACTTCCTGGGCTCAAGCAATCCTGCCACCTCAGACTCTGGAGTAGCTGGG ACTGCAGGCATGCACCATCGCACCCAGCTAATATTTTAATGAGAGATGGA ATCTCAGTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGGCTCAAGTGATG CTCCCTCCTTGCCATCCCAAGATATGCAAGTATTACAGGCATGAGCCACT GAGACCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG GGTAAGCAGTGGGGTTTCACTGTGTTGCCTGGGCTTTAGAATACTGTGGT ATGATCATAGCAGACCGTGGCTTCAAACTCCTAGCCTCAGGTGATCCTCC TGCTTCAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246243972	G G	GGCTGAAG others(628): Show GGCTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTG CTATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCC ACTGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AGCTGGTCTCAGTGGCTCATGCCTGTAATCCTTGCATATCTTGGGATGGC AAGGAGGGAGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGGCAAC ACACTGAGATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATGGTGCA TGCCTGCAGTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGCTTGAG CCCAGGAAGTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCACTCCAG CCAAGGTGACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAGGCCA ACCAATTTCCCAATCTAATGTGAAATATAAACTGAAGTGTAGCCTGTCAT TTTTAAAAACTTCATACTCTATACATGCATACTTTTTGGTAATCAAATTT ATAACGTGTGTCTAGGCAACCACACATTCAACAGACTACCACGACAGATT TTGCCTAGCACTGTGGTTTAAGAGAAGGATAACTAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0109 a0002c0003t0001g0109	1	98	0.0102	635	c.531 others(654): Show c.531+83228_531+83229insATAGTTATCCTTCTCTTAAACCACAG TGCTAGGCAAAATCTGTCGTGGTAGTCTGTTGAATGTGTGGTTGCCTAGA CACACGTTATAAATTTGATTACCAAAAAGTATGCATGTATAGAGTATGAA GTTTTTAAAAATGACAGGCTACACTTCAGTTTATATTTCACATTAGATTG GGAAATTGGTTGGCCTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTG GTCACCTTGGCTGGAGTGCAGTGGCAATAACACAGCTCACTGTAGCCTTG ACTTCCTGGGCTCAAGCAATCCTGCCACCTCAGACTCTGGAGTAGCTGGG ACTGCAGGCATGCACCATCGCACCCAGCTAATATTTTAATGAGAGATGGA ATCTCAGTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGGCTCAAGTGATG CTCCCTCCTTGCCATCCCAAGATATGCAAGGATTACAGGCATGAGCCACT GAGACCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG GGTAAGCAGTGGGGTTTCACTGTGTTGCCTGGGCTTTAGAATACTGTGGT ATGATCATAGCAGACCGTGGCTTCAAACTCCTAGCCTCAGGTGATCCTCC TGCTTCAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246243972	G G	GGCTGAAG others(628): Show GGCTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTG CTATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCC ACTGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GCTGGTCTCAGTGGCTCATGCCTGTAATCCTTGCATATCTTGGGATGGCA AGGAGGGAGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGGCAACA CACTGAGATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATGGTGCAT GCCTGCAGTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGCTTGAGC CCAGGAAGTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCACTCCAGC CAAGGTGACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAGGCCA ACCAATTTCCCAATCTAATGTGAAATATAAACTGAAGTGTAGCCTGTCAT TTTTAAAAACTTCATACTCTATACATGCATACTTTTTGGTAATCAAATTT ATAACGTGTGTCTAGGCAACCACACATTCAACAGACTACCACGACAGATT TTGCCTAGCACTGTGGTTTAAGAGAAGGATAACTAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	98	0.0102	635	c.531 others(654): Show c.531+83228_531+83229insATAGTTATCCTTCTCTTAAACCACAG TGCTAGGCAAAATCTGTCGTGGTAGTCTGTTGAATGTGTGGTTGCCTAGA CACACGTTATAAATTTGATTACCAAAAAGTATGCATGTATAGAGTATGAA GTTTTTAAAAATGACAGGCTACACTTCAGTTTATATTTCACATTAGATTG GGAAATTGGTTGGCCTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGT GGTCACCTTGGCTGGAGTGCAGTGGCAATAACACAGCTCACTGTAGCCTT GACTTCCTGGGCTCAAGCAATCCTGCCACCTCAGACTCTGGAGTAGCTGG GACTGCAGGCATGCACCATCGCACCCAGCTAATATTTTAATGAGAGATGG AATCTCAGTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGGCTCAAGTGAT GCTCCCTCCTTGCCATCCCAAGATATGCAAGGATTACAGGCATGAGCCAC TGAGACCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG GGTAAGCAGTGGGGTTTCACTGTGTTGCCTGGGCTTTAGAATACTGTGGT ATGATCATAGCAGACCGTGGCTTCAAACTCCTAGCCTCAGGTGATCCTCC TGCTTCAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNX9_chr6_157818246_157950077	157827174	A A	AACATATA others(628): Show AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATAAAATATATTATAGTTTATATAATATATAAAATATATTAT AGTTTATATAATATATAAAATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	294	0.0034	635	c.12+ others(650): Show c.12+3990_12+3991insATATATTATAGTTTATATAATATATAAAAT ATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(628): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAGTGCTGGGATTACAGG CATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACA GGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	177	0.0056	635	c.245 others(652): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAGT GCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTT TTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGT GTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(628): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0111 a0001c0001t0020g0111	1	80	0.0125	635	c.64 others(646): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCC GCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC C	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar

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