Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(400): Show GATTATAAAATATAATCATATATTATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATATTATATATGATTATAAAATATAATTATATATATTAT ATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATATAAAATATAATTATATATGATTATAAAATATATTATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0102 a0001c0002t0002g0102	1	9	0.1111	407	c.75 others(418): Show c.7501_*7502insATTATAAAATATAATCATATATTATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATATTATATATGATTATAAAATAT AATTATATATATTATATATGATTATAAAATATAATTATATATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATATAAAATATAATTATATATGATTATAAAATATA TTATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATAT		SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding					4122		chr10	TogoVar
SYN3_chr22_32502820_33063381	32572436	T T	TTCCCTCC others(400): Show TTCCCTCCCTCCTTTCCTTCCTTCCTTCCTCCTTCCTTCCCTCCTTTCCT TCCTTCCTTCTCTCCTCCTTTCCTTCCTTCTCTCCCCCTTCCTTCCCTCC CTTCCTCCCTCCCTCCCTTCCTTCTTTTCCTTCCCTTCCCTTCTCTTCCT TCCTTCCCCCTTCCTTCCCTTCTTCCTTAGCTCCTTCTCTTCATTTCCTT CCTTCCTTCCCCTTTTCCTCCCTCCCTCCCTCCTTCCCTCCCTTCCTGCC TTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCCTTACTCCCTTCC CTTCCTTCCGTCCCTCCCTTCCTTCCTTCCTTCCCCTTTTCCTCCCTCCC TCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCTTCCTGCCTTTCCT TCCCTCCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01258.hp1 HG02071.hp1 others(16): Show HG00673.hp2 HG01258.hp1 HG02071.hp1 HG02074.hp2 HG02165.hp2 HG02622.hp1 HG03669.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18984.hp2 NA18995.hp2 NA19063.hp1 NA19065.hp2 NA19088.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0061 a0001c0001t0062 a0001c0001t0068 a0001c0001t0069 a0001c0001t0074 a0001c0001t0075 a0002c0002t0022 a0002c0002t0071	a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0117 others(16): Show a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0117 a0001c0001t0001g0179 a0001c0001t0002g0007 a0001c0001t0002g0123 a0001c0001t0002g0174 a0001c0001t0003g0017 a0001c0001t0003g0125 a0001c0001t0003g0176 a0001c0001t0015g0058 a0001c0001t0061g0034 a0001c0001t0062g0181 a0001c0001t0068g0122 a0001c0001t0069g0126 a0001c0001t0074g0071 a0001c0001t0075g0178 a0002c0002t0022g0001 a0002c0002t0071g0155	19	105	0.1810	407	c.774 others(426): Show c.774+24237_774+24238insGGGAGGGAAGGAAAGGCAGGAAGGGA GGGAGGGAAGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGAAAAGGGG AAGGAAGGAAGGAAGGGAGGGACGGAAGGAAGGGAAGGGAGTAAGGGAGG GAAGGAAGGAAGGAGGGAGGGAGGGAAGGAAAGGCAGGAAGGGAGGGAAG GAGGGAGGGAGGGAGGAAAAGGGGAAGGAAGGAAGGAAATGAAGAGAAGG AGCTAAGGAAGAAGGGAAGGAAGGGGGAAGGAAGGAAGAGAAGGGAAGGG AAGGAAAAGAAGGAAGGGAGGGAGGGAGGAAGGGAGGGAAGGAAGGGGGA GAGAAGGAAGGAAAGGAGGAGAGAAGGAAGGAAGGAAAGGAGGGAAGGAA GGAGGAAGGAAGGAAGGAAAGGAGGGAGGGA		SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	7/13						chr22	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(400): Show AGAGGGAGGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGG AGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGG GGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGA GGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGA GGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGA GGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGA GGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGGGGGGAGAGAGAG GGGGGAGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	170	0.0059	407	c.-18 others(426): Show c.-18+37491_-18+37492insCCTCCCCCCTCTCTCTCCCCCCCCTC TCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTC CCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCC CTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTC TCTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCC CCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCC CTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTC CCCCTCTCTCTCCCCCTCCCCCCCCTCCCTC		SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8						chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(400): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGG GGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGG GGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGA GAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGA GAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGGGAGG GAGAGAGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0264 a0001c0001t0038g0264	1	108	0.0093	407	c.-18 others(426): Show c.-18+37479_-18+37480insTCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCT CTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCCTCCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCT CCCCCTCTCTCCCCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCA CTCTCTCCCCCTCCCCCTCTCTCTCCCCCTC		SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8						chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(400): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGGGGGGAGAGAGGGGGGGGAGGGGGGAGAGAGGGGGAG GGAGGGGGGAGAGAGGGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGA GAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGA GAGGGGGAGGGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGA GAGAGAGA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp2 HG02083.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0020 a0001c0001t0001 a0001c0003t0020	a0001c0001t0001g0013 a0001c0003t0020g0005 a0001c0001t0001g0013 a0001c0003t0020g0005	2	109	0.0183	407	c.-18 others(426): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCC CCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCT CCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCC TCCCCCCCCTCTCTCCCCCCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCC CCTCCCTCCCTCCCCCTCTCTCTCCCCCCTC		SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8						chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(400): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGGAGAGAGGGGGGGGGAGAGAGGGGGGGGAGGGGGGAGAGAGGGGGAG GGAGGGGGGAGAGAGGGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGA GAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGA GAGGGGGAGGGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGA GAGAGAGA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0018 a0001c0001t0009g0018	1	108	0.0093	407	c.-18 others(426): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCC CCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCT CCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCC TCCCCCCCCTCTCTCCCCCCCCCTCTCTCCCCCCCTCCCCCTCTCTCCCC CCTCCCTCCCTCCCCCTCTCTCTCCCCCCTC		SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8						chr1	TogoVar
TCF3_chr19_1604292_1657615	1629106	G G	GGGGGTGG others(400): Show GGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTC ACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGA AGGGGACAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAG CGGGAAGGGGACAGCAGAGCTCATGGGGATGGGGTGGGAAGGGGACAGCA GAGCTCAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0023 a0002c0001t0023	a0002c0001t0023g0305 a0002c0001t0023g0305	1	299	0.0033	407	c.299 others(424): Show c.299-1681_299-1680insGTGAGCTCTGCTGTCCCCTTCCCACCCC ATCCCCATGAGCTCTGCTGTCCCCTTCCCGCTCCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCC GCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAG CTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCC CACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGA GCTCTGCTGTCCCCTTCCTGCCCCACCCC		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF3_chr19_1604292_1657615	1629112	A A	AGGTGGGA others(400): Show AGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGGAAGGGGACA GCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG TGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGAC AGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGG GTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGG ACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACG GGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGGGAA GGGGACAGCAGAGCTCATGGGGATGGGGTGGGAAGGGGACAGCAGAGCTC ACGGGTGG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19066.hp2 NA18945.hp2 NA19066.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0064 a0002c0001t0006g0067 a0002c0001t0006g0064 a0002c0001t0006g0067	2	221	0.0090	407	c.299 others(424): Show c.299-1687_299-1686insCCACCCGTGAGCTCTGCTGTCCCCTTCC CACCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCTCCACCCCCTGTG AGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCT TCCCGCCCCACCCTCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCC GTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCC CCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCC CGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCTGCCCCACC CCCGTGAGCTCTGCTGTCCCCTTCCCACC		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TMCO3_chr13_113486021_113555229	113543295	C C	CCCACCTC others(400): Show CCCACCTCCTCCCCTTGCCCCCCCGCCCTCCCTCTGTCCGTGACCCCCAC CTCCTCTCCCTGCCCCCACTCTGTCCGTGACCCCCACCTCCTCCCCCTGA CCCCCTGCCCTCCCTCTGTCCGTGACCCCCTCCTCCCCCTGTGCCCCACC CTCCCTGTGTGTGACCCCCACCTCCTCCCCCTGCCCCCGCCCTCCCTCTG TGGGTGACTCCACTTCCTCCCCCTGCCCCCCGCCCTCCCTGTCCGTGACC ACCTCCTCCCCCTGCCCTCCCTCTGTCCGTGACCCCCACCTCCTCCCCTT GCCCCCCCGCCCTCCCTCTGTCCGTGACCCCCTCCTCCCCCTGTGCCCCA CCCTCTCTGTCTGTGACCCCCACCTCCTCCCCCTGCCCCCCGCCCTCCCT GTCCGTGA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0082 a0003c0002t0002g0082	1	361	0.0028	407	c.169 others(426): Show c.1690+3801_1690+3802insTTGCCCCCCCGCCCTCCCTCTGTCCG TGACCCCCACCTCCTCTCCCTGCCCCCACTCTGTCCGTGACCCCCACCTC CTCCCCCTGACCCCCTGCCCTCCCTCTGTCCGTGACCCCCTCCTCCCCCT GTGCCCCACCCTCCCTGTGTGTGACCCCCACCTCCTCCCCCTGCCCCCGC CCTCCCTCTGTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGCCCTCCCT GTCCGTGACCACCTCCTCCCCCTGCCCTCCCTCTGTCCGTGACCCCCACC TCCTCCCCTTGCCCCCCCGCCCTCCCTCTGTCCGTGACCCCCTCCTCCCC CTGTGCCCCACCCTCTCTGTCTGTGACCCCCACCTCCTCCCCCTGCCCCC CGCCCTCCCTGTCCGTGACCACCTCCTCCCC		TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(400): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCCCCCC TCCTCTCCCCTCCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCT CCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCT CTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCC TCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTC CCCTCTCCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCT CCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCC CTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCC CTCCCCCT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	46	0.0217	407	c.-25 others(426): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCCCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTC TCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCT CCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCC TCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCCTCTCCCCTCCCCTCCCAT CTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCC TCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCC CTTCCCTCCCCTCCCCTCCCCCTCCCCCTTC		TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr19	TogoVar
TRIM2_chr4_153199443_153344317	153222058	A A	AAGGAAGG others(400): Show AAGGAAGGAGAGAGGGAGCGAGGGAGGAAGGAAGGAAGGAAGGAGGAAGG AAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGA AGGGAGGAAGGAAGGGAGGGAGGGAGAGGGAGAAAAGGAACGAAAGAGTG AGGAAGGAAGGAAAGAGGGAGGAAGGGAGGAAGGGAGAGAGGAAGGAAGG AAGGAAAGAAGGAAGGAAAGAGCAAGGAAGGAAGGAAAGAGCAAGGAAGG AAGGAAAGAGCGAGGAAGGGAGGGAGGAAGGAAGGAAGGAGGAAGGAAGG AAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGAAGGA GGGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAAAAGAGCGAGGGAGGG AGGGAGGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0155 a0001c0002t0007g0155	1	87	0.0115	407	c.30+ others(424): Show c.30+17506_30+17507insGAGAGGGAGCGAGGGAGGAAGGAAGGAA GGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGG GAAGGAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGGAGAGGGAGAAAAG GAACGAAAGAGTGAGGAAGGAAGGAAAGAGGGAGGAAGGGAGGAAGGGAG AGAGGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAGCAAGGAAGGAAGGAA AGAGCAAGGAAGGAAGGAAAGAGCGAGGAAGGGAGGGAGGAAGGAAGGAA GGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAG GAGGAAGGAAGGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAAAA GAGCGAGGGAGGGAGGGAGGGAGGAAGGA		TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
TWIST2_chr2_238843085_238915534	238870876	A A	ACCCCATA others(400): Show ACCCCATACACACCACACACACCACACACACCACACACCCCACACACACC ACACAAACCACACACCCTACACACCCCACACACACCACACCCCACACACA CCACACACCCCACACACACCACACACACCACACACCCCACACACCCTACA CACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACAACACACCCCACACACAC CACACAAACCACATACCACACACCCCACACACACCACACACCCCACACAC ACCACACCCCATACACACCACACACCCCACACACACCACACAAACCACAC ACCCTACACACCCCACACACACCACACCCCACACACACCCCACACACCAC ACACACAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	244	0.0041	407	c.35 others(426): Show c.35+22144_*35+22145insCCCATACACACCACACACACCACACA CACCACACACCCCACACACACCACACAAACCACACACCCTACACACCCCA CACACACCACACCCCACACACACCACACACCCCACACACACCACACACAC CACACACCCCACACACCCTACACACCCCATACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACACCACACACCCCACAC ACACAACACACCCCACACACACCACACAAACCACATACCACACACCCCAC ACACACCACACACCCCACACACACCACACCCCATACACACCACACACCCC ACACACACCACACAAACCACACACCCTACACACCCCACACACACCACACC CCACACACACCCCACACACCACACACACACC		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC5D_chr8_35230475_35801540	35248332	T T	TATATAAT others(400): Show TATATAATATATAAATATATGTTATATAAGATATATAATATATAAATATA TGTTATATAAGATATATAATATATAAATATATGTTATATAAGATATATAA TATATAAATATATGTTATATAAGATATATAATATATAAATATATGTTATA TAAGATATATAATATATAAATATATGTTATATAAGATATATAATATATAA ATATATGTTATATAAGATATATAATATATAAATATATGTTATATAAGATA TATAATATATAAATATATGTTATATAAGATATATAATATATAAATATATG TTATATAAGATATATAATATATAAATATATGTTATATAAGATATATAATA TATAAATATATGTTATATAAGAAATATAATATATAAATATATGTTATATA AGAAATAG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	24	0.0417	407	c.103 others(426): Show c.103+12475_103+12476insTATATAATATATAAATATATGTTATA TAAGATATATAATATATAAATATATGTTATATAAGATATATAATATATAA ATATATGTTATATAAGATATATAATATATAAATATATGTTATATAAGATA TATAATATATAAATATATGTTATATAAGATATATAATATATAAATATATG TTATATAAGATATATAATATATAAATATATGTTATATAAGATATATAATA TATAAATATATGTTATATAAGATATATAATATATAAATATATGTTATATA AGATATATAATATATAAATATATGTTATATAAGATATATAATATATAAAT ATATGTTATATAAGAAATATAATATATAAATATATGTTATATAAGAAATA GATATAATATATAAATATATGTTATATAAGA		UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
VCX_chrX_7838171_7849143	7844370	A A	AGGGAGGG others(400): Show AGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	150	0.0067	407	c.35 others(416): Show c.354_*355insGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTG		VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding					228		chrX	TogoVar
VPS50_chr7_93227366_93366123	93347520	T T	TGTTTGTT others(400): Show TGTTTGTTTTTTGGAGACAAGATCGTGCTCCGTCACTCAGGCTGGAGTGC AATGGCATGATCACAGCTCACTGCAGTCTTGACCTCCCAGGTTCAAGCGA TCCATTCACCTTAGCCCCCTGAGTAGCTGAGTCTACAGTCACCTGCCACC ACACCCAGCTAATTTTTTTTTTTTTTTTGAGATGGCATTTCCCTCTTGTC ATCCAGGCTGGGGTGCAATGGTGTGATCTTGGCTCACTGCAACCTCTGCC TCCCGAGTTCAAGCGATTCTCCTGCCTCGAACTCCTGAGCAACACGCCCA GCTAATATTTAAAAATTTGTAGAGATAAGGGTCTCAGCTTGTTGCCCAGG ATGGTCTTGAACTCCTAGGCTCAAGCCATCCTCCTGCCTCAGCCTCCTAA AGTGCTGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00558.hp1 others(184): Show HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01257.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01517.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0001c0013 a0001c0015 a0001c0017 a0004c0008 a0005c0011 a0006c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0002t0012 a0001c0002t0015 a0001c0002t0017 a0001c0002t0022 a0001c0002t0029 a0001c0003t0008 a0001c0012t0004 a0001c0013t0001 a0001c0015t0005 a0001c0017t0002 a0004c0008t0004 a0005c0011t0002 a0006c0014t0002	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0014 others(181): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0139 a0001c0001t0001g0154 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0275 a0001c0001t0001g0292 a0001c0001t0002g0017 a0001c0001t0002g0049 a0001c0001t0002g0081 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0149 a0001c0001t0003g0048 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0086 a0001c0001t0003g0091 a0001c0001t0003g0098 a0001c0001t0003g0270 a0001c0001t0004g0099 a0001c0001t0005g0005 a0001c0001t0005g0126 a0001c0001t0005g0131 a0001c0001t0005g0135 a0001c0001t0006g0013 a0001c0001t0006g0018 a0001c0001t0006g0130 a0001c0001t0007g0058 a0001c0001t0010g0004 a0001c0001t0010g0107 a0001c0001t0010g0108 a0001c0001t0010g0119 a0001c0001t0011g0141 a0001c0001t0012g0140 a0001c0001t0019g0111 a0001c0001t0025g0075 a0001c0001t0026g0106 a0001c0001t0027g0142 a0001c0002t0001g0002 a0001c0002t0001g0012 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0030 a0001c0002t0001g0053 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0083 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0114 a0001c0002t0001g0120 a0001c0002t0001g0144 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0242 a0001c0002t0001g0245 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0271 a0001c0002t0001g0276 a0001c0002t0001g0289 a0001c0002t0001g0291 a0001c0002t0002g0047 a0001c0002t0002g0072 a0001c0002t0002g0077 a0001c0002t0002g0082 a0001c0002t0002g0104 a0001c0002t0002g0273 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0294 a0001c0002t0003g0002 a0001c0002t0003g0063 a0001c0002t0003g0070 a0001c0002t0003g0089 a0001c0002t0003g0093 a0001c0002t0003g0243 a0001c0002t0003g0293 a0001c0002t0004g0010 a0001c0002t0004g0020 a0001c0002t0004g0051 a0001c0002t0004g0068 a0001c0002t0004g0069 a0001c0002t0004g0143 a0001c0002t0004g0148 a0001c0002t0004g0240 a0001c0002t0004g0241 a0001c0002t0004g0268 a0001c0002t0005g0133 a0001c0002t0006g0052 a0001c0002t0006g0287 a0001c0002t0006g0288 a0001c0002t0007g0302 a0001c0002t0011g0166 a0001c0002t0011g0167 a0001c0002t0011g0222 a0001c0002t0011g0261 a0001c0002t0012g0010 a0001c0002t0012g0244 a0001c0002t0015g0145 a0001c0002t0015g0151 a0001c0002t0017g0132 a0001c0002t0022g0084 a0001c0002t0029g0272 a0001c0003t0008g0286 a0001c0012t0004g0050 a0001c0013t0001g0298 a0001c0015t0005g0105 a0001c0017t0002g0110 a0004c0008t0004g0260 a0005c0011t0002g0280 a0006c0014t0002g0153	187	297	0.6296	407	c.220 others(426): Show c.2208-1190_2208-1189insTTTGTTTTTTGGAGACAAGATCGTGC TCCGTCACTCAGGCTGGAGTGCAATGGCATGATCACAGCTCACTGCAGTC TTGACCTCCCAGGTTCAAGCGATCCATTCACCTTAGCCCCCTGAGTAGCT GAGTCTACAGTCACCTGCCACCACACCCAGCTAATTTTTTTTTTTTTTTT GAGATGGCATTTCCCTCTTGTCATCCAGGCTGGGGTGCAATGGTGTGATC TTGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTC GAACTCCTGAGCAACACGCCCAGCTAATATTTAAAAATTTGTAGAGATAA GGGTCTCAGCTTGTTGCCCAGGATGGTCTTGAACTCCTAGGCTCAAGCCA TCCTCCTGCCTCAGCCTCCTAAAGTGCTGGG		VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding	23/27					INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS50_chr7_93227366_93366123	93347520	T T	TGTTTGTT others(400): Show TGTTTGTTTTTTGGAGACAAGATTGTGCTCCGTCACTCAGGCTGGAGTGC AATGGCATGATCACAGCTCACTGCAGTCTTGACCTCCCAGGTTCAAGCGA TCCATTCACCTTAGCCCCCTGAGTAGCTGAGTCTACAGTCACCTGCCACC ACACCCAGCTAATTTTTTTTTTTTTTTTGAGATGGCATTTCCCTCTTGTC ATCCAGGCTGGGGTGCAATGGTGTGATCTTGGCTCACTGCAACCTCTGCC TCCCGAGTTCAAGCGATTCTCCTGCCTCGAACTCCTGAGCAACACGCCCA GCTAATATTTAAAAATTTGTAGAGATAAGGGTCTCAGCTTGTTGCCCAGG ATGGTCTTGAACTCCTAGGCTCAAGCCATCCTCCTGCCTCAGCCTCCTAA AGTGCTGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp1 HG02896.hp2 others(6): Show HG02280.hp1 HG02630.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03195.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0002c0006t0001 a0001c0001t0001 a0001c0001t0002 a0002c0006t0001	a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0042 others(6): Show a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0085 a0001c0001t0001g0269 a0001c0001t0002g0015 a0002c0006t0001g0016 a0002c0006t0001g0036 a0002c0006t0001g0038	9	119	0.0756	407	c.220 others(426): Show c.2208-1190_2208-1189insTTTGTTTTTTGGAGACAAGATTGTGC TCCGTCACTCAGGCTGGAGTGCAATGGCATGATCACAGCTCACTGCAGTC TTGACCTCCCAGGTTCAAGCGATCCATTCACCTTAGCCCCCTGAGTAGCT GAGTCTACAGTCACCTGCCACCACACCCAGCTAATTTTTTTTTTTTTTTT GAGATGGCATTTCCCTCTTGTCATCCAGGCTGGGGTGCAATGGTGTGATC TTGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCTC GAACTCCTGAGCAACACGCCCAGCTAATATTTAAAAATTTGTAGAGATAA GGGTCTCAGCTTGTTGCCCAGGATGGTCTTGAACTCCTAGGCTCAAGCCA TCCTCCTGCCTCAGCCTCCTAAAGTGCTGGG		VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding	23/27					INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(400): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATATATCATATATCACACATATGATATATATCATACAT ATCACATATATCATATATATCATACATATCACATATATCATATATATCAT ACATATCACATATATGATATATATCATATATATCACATATATGATATATA TCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	166	0.0060	407	c.-36 others(418): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATATATCATATATCACACATATG ATATATATCATACATATCACATATATCATATATATCATACATATCACATA TATCATATATATCATACATATCACATATATGATATATATCATATATATCA CATATATGATATATATCATATAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATATA others(400): Show CATATATATCACATATATGATATATATCATATGTGATATATATCATATAT ATCACATATATGATATATATCATGTGATATATATAGCATATATATCATAT GTGATATATATCATATATATCACATATGATATATATCATATATATCATAT GTGATATATAGCATATATATCATATGTGATATATAGCATATATATCATAT GTGATATATATCATATATATCATATATCATATATATCATATATATCATAT ATCATATATATCATATATATCATATATCATATATCATATATATCATATAT CATATATATCATATGTGATATATATGATATATATGATATATATGATATAT ATGATATATAGTGATATATATCATATATATGTGATATATATGATATATAT CATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03225.hp2 HG03098.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	2	224	0.0089	407	c.-34 others(418): Show c.-3494_-3493insATATATATCACATATATGATATATATCATATGTG ATATATATCATATATATCACATATATGATATATATCATGTGATATATATA GCATATATATCATATGTGATATATATCATATATATCACATATGATATATA TCATATATATCATATGTGATATATAGCATATATATCATATGTGATATATA GCATATATATCATATGTGATATATATCATATATATCATATATCATATATA TCATATATATCATATATCATATATATCATATATATCATATATCATATATC ATATATATCATATATCATATATATCATATGTGATATATATGATATATATG ATATATATGATATATATGATATATAGTGATATATATCATATATATGTGAT ATATATGATATATATCATATATT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3390		chr10	TogoVar
ABR_chr17_998519_1184981	1153534	C C	CCCAGGCA others(401): Show CCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGG GCTGGGGGTCCAGGCACACCTGCGGGAGGGCTAGGGATCCAGGCACACCT GCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAG GCACACCTGCGGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTG GGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGG GAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCAC ACCTGCGGGAGGGCTGGGGATCCAGGCACACCTGCGGGAGGGCTGGGGGT CCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGGAGG GCTGGGGGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	273	0.0037	408	c.61+ others(425): Show c.61+26132_61+26133insACCCCCAGCCCTCCCCGCAGGTGTGCCT GGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAG GTGTGCCTGGATCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCC TCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTGCCTGGACC CCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTG CCTGGACCCCCAGCCCTCCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCC GTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATCCCTA GCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTGCCTG GACCCCCAGCCCTCCCGCAGGTGTGCCTGG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22						chr17	TogoVar
ABR_chr17_998519_1184981	1164255	C C	CCCTGGCA others(401): Show CCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGGGGCCCCAG ATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGGATCTAGGTAGG ACGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGGGAC CCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCTAG GTAGGACGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCA GGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCA TCCAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGC AGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGC ATCTAGGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(219): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0014 a0002c0005 a0003c0008 a0004c0011 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(75): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0041 a0001c0001t0049 a0001c0001t0050 a0001c0001t0056 a0001c0001t0058 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0080 a0001c0001t0081 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0042 a0001c0002t0084 a0001c0003t0016 a0001c0003t0021 a0001c0003t0052 a0001c0003t0054 a0001c0003t0079 a0001c0003t0082 a0001c0004t0048 a0001c0007t0003 a0001c0009t0018 a0001c0010t0001 a0001c0012t0055 a0001c0014t0010 a0002c0005t0001 a0003c0008t0020 a0004c0011t0009 a0005c0015t0061	a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0063 others(219): Show a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0002g0052 a0001c0001t0002g0087 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0113 a0001c0001t0002g0130 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0171 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0210 a0001c0001t0002g0224 a0001c0001t0003g0091 a0001c0001t0003g0116 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0142 a0001c0001t0003g0149 a0001c0001t0003g0193 a0001c0001t0003g0201 a0001c0001t0003g0208 a0001c0001t0003g0220 a0001c0001t0003g0223 a0001c0001t0003g0239 a0001c0001t0004g0249 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0264 a0001c0001t0004g0291 a0001c0001t0004g0299 a0001c0001t0004g0301 a0001c0001t0004g0309 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0317 a0001c0001t0004g0320 a0001c0001t0004g0330 a0001c0001t0004g0333 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0005g0255 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0274 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0292 a0001c0001t0005g0298 a0001c0001t0005g0305 a0001c0001t0005g0310 a0001c0001t0005g0316 a0001c0001t0005g0319 a0001c0001t0005g0321 a0001c0001t0005g0323 a0001c0001t0006g0088 a0001c0001t0006g0093 a0001c0001t0006g0140 a0001c0001t0006g0146 a0001c0001t0006g0205 a0001c0001t0006g0209 a0001c0001t0006g0218 a0001c0001t0006g0219 a0001c0001t0006g0234 a0001c0001t0007g0250 a0001c0001t0007g0254 a0001c0001t0007g0281 a0001c0001t0007g0283 a0001c0001t0007g0289 a0001c0001t0007g0307 a0001c0001t0007g0318 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0007g0326 a0001c0001t0007g0327 a0001c0001t0007g0334 a0001c0001t0008g0010 a0001c0001t0008g0023 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0041 a0001c0001t0009g0017 a0001c0001t0009g0022 a0001c0001t0009g0031 a0001c0001t0009g0033 a0001c0001t0009g0035 a0001c0001t0009g0044 a0001c0001t0009g0049 a0001c0001t0010g0261 a0001c0001t0010g0262 a0001c0001t0010g0275 a0001c0001t0010g0294 a0001c0001t0010g0300 a0001c0001t0010g0311 a0001c0001t0010g0315 a0001c0001t0010g0322 a0001c0001t0011g0166 a0001c0001t0011g0233 a0001c0001t0011g0238 a0001c0001t0011g0247 a0001c0001t0012g0092 a0001c0001t0012g0184 a0001c0001t0013g0027 a0001c0001t0014g0096 a0001c0001t0015g0263 a0001c0001t0015g0276 a0001c0001t0015g0293 a0001c0001t0017g0112 a0001c0001t0017g0226 a0001c0001t0019g0212 a0001c0001t0019g0217 a0001c0001t0020g0135 a0001c0001t0021g0273 a0001c0001t0021g0282 a0001c0001t0026g0026 a0001c0001t0026g0029 a0001c0001t0027g0038 a0001c0001t0029g0178 a0001c0001t0030g0211 a0001c0001t0031g0242 a0001c0001t0032g0260 a0001c0001t0032g0304 a0001c0001t0033g0265 a0001c0001t0035g0013 a0001c0001t0041g0014 a0001c0001t0049g0197 a0001c0001t0050g0133 a0001c0001t0056g0175 a0001c0001t0058g0165 a0001c0001t0060g0148 a0001c0001t0062g0190 a0001c0001t0063g0240 a0001c0001t0064g0136 a0001c0001t0065g0237 a0001c0001t0066g0090 a0001c0001t0068g0152 a0001c0001t0069g0214 a0001c0001t0070g0186 a0001c0001t0071g0176 a0001c0001t0073g0114 a0001c0001t0074g0155 a0001c0001t0075g0172 a0001c0001t0077g0290 a0001c0001t0080g0253 a0001c0001t0081g0303 a0001c0001t0083g0331 a0001c0001t0085g0302 a0001c0001t0086g0312 a0001c0001t0087g0296 a0001c0001t0088g0332 a0001c0001t0089g0297 a0001c0001t0090g0287 a0001c0002t0001g0163 a0001c0002t0001g0206 a0001c0002t0002g0065 a0001c0002t0002g0099 a0001c0002t0002g0154 a0001c0002t0002g0173 a0001c0002t0005g0306 a0001c0002t0007g0295 a0001c0002t0008g0036 a0001c0002t0042g0015 a0001c0002t0084g0329 a0001c0003t0016g0221 a0001c0003t0021g0277 a0001c0003t0052g0216 a0001c0003t0054g0232 a0001c0003t0079g0288 a0001c0003t0082g0286 a0001c0004t0048g0199 a0001c0007t0003g0139 a0001c0009t0018g0101 a0001c0010t0001g0138 a0001c0012t0055g0236 a0001c0014t0010g0308 a0002c0005t0001g0187 a0002c0005t0001g0198 a0003c0008t0020g0131 a0004c0011t0009g0028 a0005c0015t0061g0213	222	286	0.7762	408	c.61+ others(425): Show c.61+15411_61+15412insCACCTAGATGCTCCGACATCCATGTTCA CTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTG TGTGTGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATCCATGTTC ACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCT GTGTGTGACACTTTGCCAGGGTCCGTCCTACCTAGATGCTCCGACATCCA TGTTCACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCA GTGCTGTGTGTGACACTTTGCCAGGGTCCGTCCTACCTAGATCCTCCGAC ATCCATGTTCACTGGGCGTCTTGCAGTTTATCTGGGGCCCCTGCGTCTGG ATTCAGTGCTGTGTGTGACACTTTGCCAGG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22						chr17	TogoVar
ACOT11_chr1_54543228_54615329	54561916	C C	CGCCCCCC others(401): Show CGCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCAGG GGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	370	0.0027	408	c.33+ others(425): Show c.33+13574_33+13575insGCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGA CCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCG		ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15						chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561916	C C	CGCCCCCC others(401): Show CGCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCAG GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG02109.hp1 others(6): Show HG01109.hp1 HG01255.hp1 HG02109.hp1 HG03041.hp1 HG03098.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0023 others(3): Show a0001c0001 a0001c0006 a0001c0023 a0002c0002 a0002c0022 a0002c0025	a0001c0001t0005 a0001c0006t0003 a0001c0006t0005 others(4): Show a0001c0001t0005 a0001c0006t0003 a0001c0006t0005 a0001c0023t0002 a0002c0002t0003 a0002c0022t0004 a0002c0025t0003	a0001c0001t0005g0319 a0001c0006t0003g0071 a0001c0006t0003g0072 others(6): Show a0001c0001t0005g0319 a0001c0006t0003g0071 a0001c0006t0003g0072 a0001c0006t0005g0058 a0001c0023t0002g0081 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0022t0004g0161 a0002c0025t0003g0055	9	378	0.0238	408	c.33+ others(425): Show c.33+13574_33+13575insGCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGA CCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCG		ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15						chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561917	C C	CCCCCCCC others(401): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCTCTCACCTCCCGGAC GGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCAGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp2 HG02630.hp2 others(7): Show HG00639.hp2 HG02257.hp2 HG02630.hp2 HG02647.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03139.hp1 HG03471.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0172 a0002c0002t0003g0001 a0002c0002t0003g0156 others(6): Show a0002c0002t0002g0172 a0002c0002t0003g0001 a0002c0002t0003g0156 a0002c0002t0003g0157 a0002c0002t0003g0158 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0173 a0002c0002t0003g0174	10	291	0.0344	408	c.33+ others(425): Show c.33+13614_33+13615insGGGGGGCTGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCG GGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GTGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGC		ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561945	G G	GGCTGGCC others(401): Show GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGA CCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG03654.hp2 HG00099.hp1 HG00140.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330	3	344	0.0087	408	c.33+ others(425): Show c.33+13614_33+13615insGGGGGGCTGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCG GGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GTGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCAGCTGGCCGGGC		ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACSF2_chr17_50421218_50479837	50476102	C C	CCAGCGCG others(401): Show CCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGC AGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCCCAG CGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCG CGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCGCAGCGCG CCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCC TGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTG CCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCC CCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCC CTTACCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 NA18522.hp1 HG02970.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0033 a0001c0001t0001g0038	2	285	0.0070	408	c.15 others(419): Show c.1550_*1551insCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCT GCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGC CCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCC CCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCC TTACCTCGCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTT ACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTAC CTCGCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCT CGCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCG CAGCGCGCCTGCCCCCTTACCTCG		ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding					1266		chr17	TogoVar
ACTL8_chr1_17750333_17832063	17754332	G G	GTTTTTTT others(401): Show GTTTTTTTTTTTTTTTTTTTTTTCCTCTCACATATTCTTCTTTGTTTTAT TTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTTTTTTTTTTTTTTAT TATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACAT ATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTCATCTA GCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCAC CACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCAT TGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTCGTT CTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCT ATGTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0355 a0001c0005t0003g0355	1	345	0.0029	408	c.-11 others(419): Show c.-1197_-1196insTTTTTTTTTTTTTTTTTTTTTTCCTCTCACATAT TCTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTT TTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGT GCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCA CTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCC CTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTG TCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGT GTTTGGTTTTTCGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAAT TTCATCCATGTCCCTATGTTTTTT		ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding					1000		chr1	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(401): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGG GAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGA GGGAGGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGA GGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAGAG AAGGAAAGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAG GGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGA TGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0022 a0002c0011t0022	a0002c0011t0022g0103 a0002c0011t0022g0103	1	25	0.0400	408	c.259 others(429): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCC ATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTC CCTCCCTCCCATCCCTCCCTCCCTCCCTCCCTCCCTCCCATCCCTCCTTT CCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCA TCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCACC CTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCC TCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21						chr15	TogoVar
ADAMTS3_chr4_72275969_72574221	72456150	T T	TTATATAT others(401): Show TTATATATAGTATATATACTATATATATTTTATATATAGTATATATACTA TATATATTTTATATATAGTATATATACTGTATATACTATATATATTTTAT ATATAGTATATATACTGTATATACTATATATATTTTATATATAGTATATA TACTGTATATACTATATATATTTTATATATAGTATATATACTGTATATAC TATATATATTTTATATATAGTATATATACTGTATATACTATATATATTTT ATATATATTTTATATATAGTATGTACTCTATATATTTTATATATAGTATG TACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATAG TATGTACTCTATATATTTTATATATAGTATGTACTATATATTTTATATAT AGTATGTAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0107 a0001c0003t0001g0107	1	172	0.0058	408	c.505 others(427): Show c.505-41180_505-41179insGTACATACTATATATAAAATATATAG TACATACTATATATAAAATATATAGAGTACATACTATATATAAAATATAT AGAGTACATACTATATATAAAATATATAGAGTACATACTATATATAAAAT ATATAGAGTACATACTATATATAAAATATATATAAAATATATATAGTATA TACAGTATATATACTATATATAAAATATATATAGTATATACAGTATATAT ACTATATATAAAATATATATAGTATATACAGTATATATACTATATATAAA ATATATATAGTATATACAGTATATATACTATATATAAAATATATATAGTA TATACAGTATATATACTATATATAAAATATATATAGTATATATACTATAT ATAAAATATATATAGTATATATACTATATATA		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21						chr4	TogoVar
ADARB2_chr10_1172313_1742525	1327470	A A	ACAGCGCC others(401): Show ACAGCGCCTCCCCACGGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCA CGGCACAGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCCCAGCGCCTC CCCACTGCCCAGCGCCTCCCCACGGCACAGCGCCTCCCCACGGCACAGCG CCTCCCCACTGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACGGCCC AGCGCCTCCCCACGGCACAGCGCCTCACTGCACAGCGCCTCCTCACTGCC CAGCGCCTCCCCACTGCCCAGCGCCTCCTCACTGCACAGCGCCTCCCCAC GGCACAGCGCCTCACTGCACAGCGCCTCCTCACTGCACAGTGCCTCGTCA CAGTTTAGTGCCTGCCCACAGTTCAGCGCCTCCCCAAGGCACAGCGCCTC CTCACAGTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0040 a0001c0001t0049g0040	1	91	0.0110	408	c.107 others(429): Show c.1077+35557_1077+35558insAACTGTGAGGAGGCGCTGTGCCTT GGGGAGGCGCTGAACTGTGGGCAGGCACTAAACTGTGACGAGGCACTGTG CAGTGAGGAGGCGCTGTGCAGTGAGGCGCTGTGCCGTGGGGAGGCGCTGT GCAGTGAGGAGGCGCTGGGCAGTGGGGAGGCGCTGGGCAGTGAGGAGGCG CTGTGCAGTGAGGCGCTGTGCCGTGGGGAGGCGCTGGGCCGTGGGGAGGC GCTGGGCAGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTGCCGTGGGG AGGCGCTGTGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGGGCAGT GGGGAGGCGCTGTGCCGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGGG CAGTGGGGAGGCGCTGGGCCGTGGGGAGGCGCTG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1327485	T T	TGCCCAGC others(401): Show TGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACGGCACAGCGCCTCC CCACGGCACAGCGCCTCCCCACTGCCCAGCGCCTCCCCACTGCCCAGCGC CTCCCCACGGCACAGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCCCA GCGCCTCCCCACTGCCCAGCGCCTCCCCACGGCCCAGCGCCTCCCCACGG CACAGCGCCTCACTGCACAGCGCCTCCTCACTGCCCAGCGCCTCCCCACT GCCCAGCGCCTCCTCACTGCACAGCGCCTCCCCACGGCACAGCGCCTCAC TGCACAGCGCCTCCTCACTGCACAGTGCCTCGTCACAGTTTAGTGCCTGC CCACAGTTCAGCGCCTCCCCAAGGCACAGCGCCTCCTCACAGTTCAGCGC CTCCCCACG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0042 a0002c0002t0008g0042	1	74	0.0135	408	c.107 others(429): Show c.1077+35542_1077+35543insCGTGGGGAGGCGCTGAACTGTGAG GAGGCGCTGTGCCTTGGGGAGGCGCTGAACTGTGGGCAGGCACTAAACTG TGACGAGGCACTGTGCAGTGAGGAGGCGCTGTGCAGTGAGGCGCTGTGCC GTGGGGAGGCGCTGTGCAGTGAGGAGGCGCTGGGCAGTGGGGAGGCGCTG GGCAGTGAGGAGGCGCTGTGCAGTGAGGCGCTGTGCCGTGGGGAGGCGCT GGGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGGGCAGTGGGGAGG CGCTGTGCCGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGGGCAGTGGG GAGGCGCTGGGCAGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGTGCCG TGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGGGC		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1460168	G G	GAGTTTAC others(401): Show GAGTTTACCTGTGTAACAAACCTGCCTGTGACCTGAGTTTACCTGTGTAA CAAACCTGCCTGTGACCTGAGTTTACCTGCGTTACGAACCTGCCTGTGAC CTGAGTTTACCTGTGTAACAAACCTGCCTGTGACCTGAGTTTACCTGTGT AACGAACCTGCCTGTGACCTGAGTTTACCTGTGTAACAAACCTGCCTGTG ACCTGAGTTTACCTGTGTAACGAACCTGCCTGTGACCTGAGTTTACCTGT GTAACAAACCTGCCTGTGACCTGAGTTTACCTGTGTAACGAACCTGCCTG TGACCTGAGTTTACCTGTGTAACAAACCTGCCTGTGACCTGAGTTTACCT GTGTAACAAACCTGCCTGTGACCTGAGTTTACCTGTGTAACAAACCTGCC TGTGACCTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0027 a0001c0001t0018g0027	1	85	0.0118	408	c.101 others(427): Show c.101-81009_101-81008insGAGGTCACAGGCAGGTTTGTTACACA GGTAAACTCAGGTCACAGGCAGGTTTGTTACACAGGTAAACTCAGGTCAC AGGCAGGTTTGTTACACAGGTAAACTCAGGTCACAGGCAGGTTCGTTACA CAGGTAAACTCAGGTCACAGGCAGGTTTGTTACACAGGTAAACTCAGGTC ACAGGCAGGTTCGTTACACAGGTAAACTCAGGTCACAGGCAGGTTTGTTA CACAGGTAAACTCAGGTCACAGGCAGGTTCGTTACACAGGTAAACTCAGG TCACAGGCAGGTTTGTTACACAGGTAAACTCAGGTCACAGGCAGGTTCGT AACGCAGGTAAACTCAGGTCACAGGCAGGTTTGTTACACAGGTAAACTCA GGTCACAGGCAGGTTTGTTACACAGGTAAACT		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(401): Show TTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0007 a0003c0003t0004g0007	1	123	0.0081	408	c.-1- others(423): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAAGAAGAAGGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGAAGAAGAA		ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28						chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(401): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	123	0.0081	408	c.-1- others(423): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAA GAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGAAGAAGAAGAAGAA		ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28						chrX	TogoVar
AHRR_chr5_316714_443285	318068	C C	CTCCCTTG others(401): Show CTCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTC CCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTTCCACCTCCCCCCGTC CACCTCCCCCCTCACCTCCTCCCCAGCCCTCCACCTCTCCCCCCTCACCT CCCCCCTCACACTCACCACCAACCTCCTCCCCTCACCCTCCACCTCCCCC CGACACCCTGCACCTCCCCCCTGCATCCCTGCACCTCCCACCCTTACCCT GCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCT GCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTTGCACCTCCCCCCT CCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCC CCCTCACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0051 a0002c0002t0051	a0002c0002t0051g0194 a0002c0002t0051g0194	1	263	0.0038	408	c.-37 others(419): Show c.-3762_-3761insTCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCC CTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTT CCACCTCCCCCCGTCCACCTCCCCCCTCACCTCCTCCCCAGCCCTCCACC TCTCCCCCCTCACCTCCCCCCTCACACTCACCACCAACCTCCTCCCCTCA CCCTCCACCTCCCCCCGACACCCTGCACCTCCCCCCTGCATCCCTGCACC TCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCC TGCACCTCCCTCTCTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCC TTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCC CCCCTCCACCTCCCCCCCTCACTT		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding					3645		chr5	TogoVar
AHRR_chr5_316714_443285	391569	C C	CGGACACA others(401): Show CGGACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCAC GGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACG AACACACGGGTGCAGGGCGAGGCAGGCGCAGGGCGAGGCAGGGCCAGAGC GTGCACGGACGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCG TGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGT GCACGAACACACGGGTGCAGGGCGAGGCAGGCGCAGGGCGAGGCAGGGCC AGAGCGTGCACGGACGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCA GAGCATGCACGGGCGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAG AGCGTGCAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0249 a0002c0002t0007g0249	1	207	0.0048	408	c.351 others(427): Show c.351+14855_351+14856insACACAGGGCGAGGAGGGCGCAGGGTG AGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGA GGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAGGCAGGCGC AGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGGAGGGCGCA GGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAG GGTGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAGGCA GGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGGCGG GCGCAGGGTGAGGCAGGGCCAGAGCATGCACGGGCGCAGGGCGAGGCGGG CGCAGGGCGAGGCAGGGCCAGAGCGTGCATGG		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415376	T T	TGGGAGGC others(401): Show TGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGC CGAGTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGG GGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGG GCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGT CGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGGCCTAG GGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTG GTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCT AGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCC TGGTCGGGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0031 a0001c0001t0009g0031	1	249	0.0040	408	c.441 others(425): Show c.441+1965_441+1966insCCCTGGTCGGGCGGGAGGCCTAGGGGCC GAGTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGG GCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGG CCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTC GGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGGCCTAGG GGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGG TGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTA GGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCT GGTCGGGCGGGAGGCCTAGGGGCCGAGTCT		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415410	T T	TGGGAGGC others(401): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCG GGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGG GCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGT CTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAG GGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTG GTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCT AGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCC TGGTGGGGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0078 a0001c0001t0005g0078	1	195	0.0051	408	c.441 others(425): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGA GGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAAT CTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGG GAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGA ATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGC GGGAGGCCTAGGGGCCGAATCTGCCTGGTC		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415648	C C	CGGGAGGC others(401): Show CGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGC CGAGTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGG GGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGG GCCGAGTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGT GGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAG GGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCCTG GTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCT AGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCC TGGTGGGGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	255	0.0039	408	c.441 others(425): Show c.441+2264_441+2265insCGAGTCTGCCTGGTCTGCTGGGAGGCCT AGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCC TGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGGC CTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTC CCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAG GCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATC TGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGG AGGCCTAGGGGCCGAATCTGCCTGGTGGGGTGGGAGGCCTAGGGGCCGAA TCTGCCTGGTCGGGCGGGAGGCCTAGGGGC		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(401): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGA GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGA CTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCT GAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGA GGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGG CTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00738.hp1 HG03516.hp2 HG00738.hp1 HG03516.hp2	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0001 a0012c0021t0001	a0012c0021t0001g0002 a0012c0021t0001g0026 a0012c0021t0001g0002 a0012c0021t0001g0026	2	4	0.5000	408	c.546 others(417): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGG CTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGACTGAGGCT GGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGAGGTTGG GGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGG CTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCT CGGGCTGAGGCTGGGGCTGGGG	p.Gly others(423): Show p.Gly1820_Ala1821insValGlyAlaGlyValGlyAlaGlyAlaGly AlaGluAlaGluAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAl aGlyAlaGlyThrGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaG lyAlaGlyAlaGlyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGlu AlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGlyAlaGlyTh rGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgAlaGluAlaG luValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArgAlaGlu AlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAl aGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP10A_chr15_25673712_25868327	25758057	A A	ACTCATTC others(401): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTC CGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTA ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	272	0.0037	408	c.655 others(427): Show c.655-21917_655-21916insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATAGGAA TGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGA TCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGC AGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(401): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCTGTCCAGGCCCCGACGC GTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCTGTCCAG GCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	299	0.0033	408	c.36 others(419): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCTG TCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCTGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCG		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					3471		chr19	TogoVar
B4GALNT3_chr12_454939_568509	511884	T T	TCCACCTT others(401): Show TCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTT CCACCTTCCACCTTCCGCCTTCGACCTTCTTCCACCTTCCACCTTCCGCC TTCCACCTTCGACCTTCTTCCACCTTCGACCTTCCACCTTCCACCTTCTT CCACCTTCGAGCTTCCACCTTCCGCCTTCTGCCTTCCACCTTCCACCTTC CTTCCACCTTCCACCTTCGACCTTCCGCCTTCCGCCTTCCGCCTTCCACC TTCTGTCTTCCACCTTCCTTCCACCTTCCGCCTTCCACCTTCCTTCCACC TTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTT CCACCTTCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCT TCCACCTTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0166 a0001c0001t0061g0166	1	116	0.0086	408	c.170 others(427): Show c.170-23281_170-23280insCACCTTCCACCTTCTTCCACCTTCCA CCTTCCACCTTCTACCTTCCTTCCACCTTCCACCTTCCGCCTTCGACCTT CTTCCACCTTCCACCTTCCGCCTTCCACCTTCGACCTTCTTCCACCTTCG ACCTTCCACCTTCCACCTTCTTCCACCTTCGAGCTTCCACCTTCCGCCTT CTGCCTTCCACCTTCCACCTTCCTTCCACCTTCCACCTTCGACCTTCCGC CTTCCGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTC CGCCTTCCACCTTCCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCC ACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCTTCCACCTTC CACCTTCCACCTTCTTCCACCTTCCACCTTCC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGAGG others(401): Show GAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGG AGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GGAGGAGGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	109	0.0092	408	c.784 others(423): Show c.784-574_784-573insAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGG GAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAG GGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGGAGGAGGAAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BRF1_chr14_105204286_105306001	105229861	G G	GCAGCCCC others(401): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGG AGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGG ACAGCCTGA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	67	0.0149	408	c.695 others(423): Show c.695-949_695-948insTCAGGCTGTCCCCCGCCCCCAGCTGGGCGA CTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGC TCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCT GGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGT TGTTGCTCCTGAGGGTGCCACGGGGCTG		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17						chr14	TogoVar
BRF1_chr14_105204286_105306001	105231595	G G	GCAGCCCC others(401): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGG AGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGG ACAGCCTGA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	66	0.0152	408	c.695 others(425): Show c.695-2683_695-2682insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCCCAGCT GGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGT TGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAG CTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAG GTTGTTGCTCCTGAGGGTGCCACGGGGCTG		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17						chr14	TogoVar
BRF1_chr14_105204286_105306001	105231799	G G	GCAGCCCC others(401): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGG AGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGG ACAGCCTGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	66	0.0152	408	c.695 others(425): Show c.695-2887_695-2886insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCT GGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGT TGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAG CTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAG GTTGTTGCTCCTGAGGGTGCCACGGGGCTG		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17						chr14	TogoVar
BRF1_chr14_105204286_105306001	105232418	C C	CGTGGCAC others(401): Show CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGC CCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACA GCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGA CAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCT GGCAGCCCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0061 a0001c0002t0005g0061	1	64	0.0156	408	c.695 others(425): Show c.695-3506_695-3505insAGGGCTGCCAGGCTGTCCCCCGCCCCCA GCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTA GGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCC CAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGC TAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCC CCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCAC		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17						chr14	TogoVar
BRF1_chr14_105204286_105306001	105233329	G G	GCAGCCCC others(401): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGG AGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGG ACAGCCTGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0002 a0001c0001t0010g0002	1	66	0.0152	408	c.695 others(425): Show c.695-4417_695-4416insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCT GGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGT TGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAG CTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAG GTTGTTGCTCCTGAGGGTGCCACGGGGCTG		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17						chr14	TogoVar
BRF1_chr14_105204286_105306001	105236090	T T	TGTGGCAC others(401): Show TGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGC CCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCA GCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGG CAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCT GGCAGCCCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	23	0.0435	408	c.694 others(425): Show c.694+5174_694+5175insGGGGCTGCCAGGCTGTCCCCCGCCCCCA GCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTGAGATGCTA GGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCC CAGCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTGAGATGC TAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCC CCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCAC		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17						chr14	TogoVar
BRF1_chr14_105204286_105306001	105237014	C C	CCCTCAGG others(401): Show CCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTG TCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGG CACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCAC TGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCCGT GGCAGCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACC ACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCC GTGGCAGCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACA CCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCC CCGTGGCAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	70	0.0143	408	c.694 others(425): Show c.694+4250_694+4251insCTGCCACGGGGCTGCCAGGCTGTCCCCC GCCCCCAGCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTGA GATGCTAGGTTGTTGCTCCTGAGGCTGCCACGGGGCTGCCAGGCTGTCCC CCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCT GAGATGCTAGGTTGTTGCTCCTGAGGCTGCCACGGGGCTGTCAGGCTGTC CCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTC CTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTG TCCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTC TCCTGAGATGCTAGGTTGTTGCTCCTGAGG		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17						chr14	TogoVar

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