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
RPH3AL_chr17_207389_357807	272976	A A	AGCGAGGG others(1981): Show AGCGAGGGCGACATCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGA GACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGAGTGACTTCA GGGTGAGACCCCGGCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGCG ACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCG AGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACATCAGGAAGAGACC CCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGA GAGACCCCAGCGCGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGT CAGGGAGAGACCCCAGCGCGGGTGACGTCAGGGAGAGACCCCAGCGCGGG TGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAG CGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGGTGAGA CCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGTGATGTCAGG GAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGAC GTCAGGGAGAGACCCCAGCGCGGGTGACGTCAGGGAGAGACCCCAGCGAG GGTGACGTCAGGGAGAGACCCCAGCGCGGGTGACGTCAGGGAGAGACCCC AGCGCGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGA GACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCA GGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGTG ATGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCG AGGGTGACGTCAGGGAGAGACCCCAGCGCGGGTGACGTCAGGGAGAGACC CCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGCGGGTGACGTCAGGGA GAGACCCCAGCGCGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGT CAGGGAGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGG TGACTTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAG CAAGGGTGATGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGA CCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGCGGGTGACTTCAGG GTGAGACCCCAGCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGTGAT GTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAG GGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCC AGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGA GACCCCAGCGAGGGCGACATCAGGAAGAGACCCCAGCGAGGGTGACGTCA GGGAGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGCG ACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCG AGGGTGACGTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACC CCAGCAAGGGTGATGTCAGGGAGAGACCCCAGCGAGGGTGACTTCAGGGT GAGACCCCGGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGT CAGGGAGAGACCCCAGCGCGGGTGACGTCAGGGAGAGACCCCAGCGAGGG CGACGTCAGGGAGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCGG CGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGA CCCCAGCGCGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGG GAGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0007 a0001c0015t0007	a0001c0015t0007g0026 a0001c0015t0007g0026	1	132	0.0076	1988	c.438 others(2005): Show c.438+8791_438+8792insCGGGGTCTCACCCTGAAGTCACCCTCGC TGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCAC CCGCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGA CGTCGCCCTCGCCGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCT CCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCGCGCTGGG GTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTC GCCGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCTCCCTGACATC ACCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCACCCT GACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCT CTCCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGAAGTCACCCTCGCTG GGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTTCCTGATGTCGCCC TCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGAAG TCACCCGCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCC CTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGT CTCTCCCTGACATCACCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGC TGGGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGTCGC CCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGA CATCACCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCA CCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCTCGCTGGG GTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCGC GCTGGGGTCTCTCCCTGACGTCACCCGCGCTGGGGTCTCTCCCTGACGTC ACCCTCGCTGGGGTCTCTCCCTGACGTCACCCGCGCTGGGGTCTCTCCCT GACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCT CTCCCTGACATCACCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTG GGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGTCACCC TCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACG TCACCCGCGCTGGGGTCTCTCCCTGACGTCACCCGCGCTGGGGTCTCTCC CTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCGCGCTGGGGT CTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGC TGGGGTCTCTCCCTGACATCACCCTTGCTGGGGTCTCTCCCTGACGTCGC CCTCGCTGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGA AGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCT CCCTGACGTCACCCGCGCTGGGGTCTCTCCCTGACGTCACCCGCGCTGGG GTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCGC GCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTC GCCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTCGCTGGGGTCTCTCCCT GACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCT CTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCCG GGGTCTCACCCTGAAGTCACTCTCGCTGGGGTCTCTCCCTGACGTCACCC TCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGATG TCGCCCTCGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273463	C C	CGTCAGGA others(1981): Show CGTCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGA GAGTGACGTCAGGGAGAGACCCCAGCGAGAGTGACGTCAGGGAGAGACCC CAGCGCGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAG AGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTC AGGGAGAGACCCCAGCGCGGGTGACGTCAGGGAGAGACCCCAGCGAGGGT GACGTCAGGGAGAGACCCCAGCGAGGGCGACATCAGGGAGAGACCCCAGC GCGGGTGACTTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGAC CCCAGCGAGGGCGACATCAGGGAGAGACCCCAGCGCGGGTGACGTCAGGG AGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACT TCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGG GCGACATCAGGGAGAGACCCCAGCGCGGGTGACGTCAGGGAGAGACCCCA GCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACTTCAGGGTGAG ACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCGGCGAGGGCGACGTCAG GGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGA CGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGA GGGCGACGTCAGGGAGAGACCCCAGCGCGGGCGACGTCAGGGAGAGACCC CAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAG AGACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGCGACGTC AGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGC GACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGC GCGGGTGACGTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGAC CCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACATCAGGG AGAGACCCCAGCGCGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACT TCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGTGAGACCCCAGCAAGG GCTACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGAAGAGACCCCA GCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAG ACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAG GGAGAGACCCCAGCGAGGGCGACGTCAGGAAGAGACCCCAGCGAGGGTGA CTTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAA GGGCTACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGAAGAGACCC CAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAG AGACCCCAGCGAGGGCGACATCAGGGAGAGACCCCAGCGCGGGTGACGTC AGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGC GACGTCAGGGAGAGACCCCAGCGAGGGTGATGTCAGGGAGAGACCCCAGC GCGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGAC CCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGCGGGTGACTTCAGGG TGAGACCCCAGCGAGGGCGACGTCAGGAAGAGACCCCAGCGAGGGTGACG TCAGGGAGAGACCCCAGCGCGGGTGACGTCAGGGAGAGACCCCAGCGAGG GCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCA GCGAGGGTGACGTCAGGGAGAGACCCCAGCAAGGGTGAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0122 a0001c0003t0030g0122	1	128	0.0078	1988	c.438 others(2005): Show c.438+8304_438+8305insATCACCCTTGCTGGGGTCTCTCCCTGAC GTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTC CCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCGCGCTGGGG TCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTTCCTGACGTCGCCCTCG CTGGGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGTCA CCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTG ACGTCGCCCGCGCTGGGGTCTCTCCCTGACATCACCCTCGCTGGGGTCTC TCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGG GGTCTCTCCCTGACGTCACCCGCGCTGGGGTCTCTCCCTGATGTCGCCCT CGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGT CACCCTCGCTGGGGTCTCTTCCTGACGTCGCCCTCGCTGGGGTCTCTCCC TGACGTAGCCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTC TCACCCTGAAGTCACCCTCGCTGGGGTCTCTTCCTGACGTCGCCCTCGCT GGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACC CTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGAC GTCACCCTCGCTGGGGTCTCTTCCTGACGTCGCCCTCGCTGGGGTCTCTC CCTGACGTAGCCCTTGCTGGGGTCTCACCCTGACGTCGCCCTCGCTGGGG TCTCACCCTGAAGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCGCG CTGGGGTCTCTCCCTGATGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCA CCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCACCCTG ACGTCACCCGCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTC TCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGG GGTCTCTTCCTGACGTCGCCCTCGCTGGGGTCTCACCCTGAAGTCACCCG CGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGT CGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCGCGCTGGGGTCTCTCCC TGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTC TCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCT GGGGTCTCTCCCTGACGTCGCCCTCGCCGGGGTCTCTCCCTGACGTCGCC CTCGCTGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCTCCCTGAC GTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCGCGCTGGGGTCTCTC CCTGATGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGG TCTCACCCTGAAGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCG CTGGGGTCTCTCCCTGACGTCACCCGCGCTGGGGTCTCTCCCTGATGTCG CCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTG AAGTCACCCGCGCTGGGGTCTCTCCCTGATGTCGCCCTCGCTGGGGTCTC TCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCGCGCTGG GGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCT CGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGT CGCCCGCGCTGGGGTCTCTCCCTGACGTCACTCTCGCTGGGGTCTCTCCC TGACGTCACTCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTC TCTTCCTGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(1981): Show ATATATATATAAATATATATATATATATAAATATATATATATATAAATAT ATATAAATATATATAAATATATATATAAATATATATAAATATATATAAAT ATATATATAAATATATATAAATATATATAAATATATATATAAATATATAT AAATATATATATAAATATATATATAAAAATATATAAAAAATATATAAAAA TATATATAAAAATATATATAAATATATATATAAATATATATAAATATATA TATAAATATAAATATAAATATATATATAAATATATATATAAATATATATA TAAATATATATATAAATATATATATAAATACATATATATAAAAATATGTA TAAATATATATAAATATATATATAAAAATATATATAAATATATAGATAAA TATATAGATAAATATATATATAAATATATAGATAAATATATAGATAAATA TATATATAAATATATAGATAAATATATATAAATATATAGATAAATATATA GATAAATATATATAAATATATAAAAATATATGTATATAAATATATATATA AATATATATATAAATATATATAAATATATATATAAATATATATAAATATA TATAAATATATATATATAAATATATATATAAATATATATATAAATATATT TATATATAAATATATATATAAATATATATATAAATATATATAAATATATA TATAAATATATAAAAATATATAAAAATATATATATAAATATATATAAATA TATATATAAATATATATATAAATATATATATAAGTATATATAAAAATATA TATAAATATATATAAATATATATAAAAATATATAAAAATATATATAAATA TATAAATATATATAAATATATATAAAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA AATATATATATAAATTTATATATAAATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATAAATATATAAATATATATAAATATATATA TAAATATATATAAATATATATAAATATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATACA TATATATAAATATATATAAATATATATACATATATAAATATATAAAAAAT ATATAAATATATAAAAAATATATAAATATATAAAAATATATATAAATATA TATAAATATATATACATATATATACATATATATAAATATATAAAAATATA TAAATATATATAAATATAAATATATACAAATATATATATAAATATGTATA AATATATAAAAATATATATATAAATATATAAAAATATATATATTAATATA TAAAAATATATATATTAATATATAAAAATATATATAAATATATATATAAA TATATATATATAAATATATATAAAAATATATATAAAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATAAATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA TAAATATATATAAACATATATAAATATATATAAAAATATATATAAATATA TATAAATATATATAAATATATATAAAAATATATATAAATATATATATAAA TATATATAAATATATATATAAATATATATAAATATATATAAATATATAAA AAATATATATAAATATATAAATATATATATATAAATATATATAAATATAT AAAAAAATATATATAAATATATATAAATATATTTATATATATAAATATAT TTATATATAAATATAAATATATATAAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	28	0.0357	1988	c.-50 others(1999): Show c.-5060_-5059insTATATATATAAATATATATATATATATAAATATA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATATAAATATATATATAAAAATATATA AAAAATATATAAAAATATATATAAAAATATATATAAATATATATATAAAT ATATATAAATATATATATAAATATAAATATAAATATATATATAAATATAT ATATAAATATATATATAAATATATATATAAATATATATATAAATACATAT ATATAAAAATATGTATAAATATATATAAATATATATATAAAAATATATAT AAATATATAGATAAATATATAGATAAATATATATATAAATATATAGATAA ATATATAGATAAATATATATATAAATATATAGATAAATATATATAAATAT ATAGATAAATATATAGATAAATATATATAAATATATAAAAATATATGTAT ATAAATATATATATAAATATATATATAAATATATATAAATATATATATAA ATATATATAAATATATATAAATATATATATATAAATATATATATAAATAT ATATATAAATATATTTATATATAAATATATATATAAATATATATATAAAT ATATATAAATATATATATAAATATATAAAAATATATAAAAATATATATAT AAATATATATAAATATATATATAAATATATATATAAATATATATATAAGT ATATATAAAAATATATATAAATATATATAAATATATATAAAAATATATAA AAATATATATAAATATATAAATATATATAAATATATATAAAAATATATAT AAATATATATAAATATATATATAAATATATATAAATATATATATAAATAT ATATAAATATATATAAATATATATATAAATTTATATATAAATATATATAA ATATATATAAATATATATATAAATATATATAAATATATATAAATATATAT ATAAATATATATAAATATATATAAATATATATATAAATATATATAAATAT ATATAAATATATATATAAATATATATAAATATATATAAATATATAAATAT ATATAAATATATATATAAATATATATAAATATATATAAATATATATATAA ATATATATAAATATATATATAAATATATATAAATATATATAAATATATAT ATAAATATATATACATATATATAAATATATATAAATATATATACATATAT AAATATATAAAAAATATATAAATATATAAAAAATATATAAATATATAAAA ATATATATAAATATATATAAATATATATACATATATATACATATATATAA ATATATAAAAATATATAAATATATATAAATATAAATATATACAAATATAT ATATAAATATGTATAAATATATAAAAATATATATATAAATATATAAAAAT ATATATATTAATATATAAAAATATATATATTAATATATAAAAATATATAT AAATATATATATAAATATATATATATAAATATATATAAAAATATATATAA AAATATATATAAATATATATATAAATATATATAAATATATATAAATATAT ATAAATATATATAAATATATATAAATATATATAAATATATATATAAATAT ATATAAATATATATATAAATATATATAAACATATATAAATATATATAAAA ATATATATAAATATATATAAATATATATAAATATATATAAAAATATATAT AAATATATATATAAATATATATAAATATATATATAAATATATATAAATAT ATATAAATATATAAAAAATATATATAAATATATAAATATATATATATAAA TATATATAAATATATAAAAAAATATATATAAATATATATAAATATATTTA TATATATAAATATATTTATATATAAATATAAATATATATAAATATATATA TATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
SUPT3H_chr6_44821726_45382934	45309270	T T	TGAGGAGA others(1981): Show TGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTGAGAAGTGAGGAGCCC CTCCGCCGGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCTGG CAGCCACCCCATCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCACCCC ATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCGGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTC AGCCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCC CTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCGGCCCCCCGCCCGGCCAGCCGCCCCATCCGAAAGGGAGGTGGGGGGG CCGGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTC GGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGCTCA GCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGGC CAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTTCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGCGGGGGGGGAGGGGGTCAGCCCCCCTGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAGGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTG TGCCCAACAGCTCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTG GAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTG CCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCT GCACTAAGAAAAATTCCTCTGCCTTGGGATCCTTACCCCCAACCCTGTGC TCTCTGAAACATGTGCTATGTCCACTCAGGGTTAAATGGATTAAGGGCGG TGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTGGTTAA GAGTCATCACCACTCCCTAATCTCAAGTAATCAGGGACACAAACACTGCG GAAGGCCGCAGGGTCCCCTGCCTAGGAAAACCAGAGACCTTTGTTCACTT GTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATC CCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTAAAA AAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0003	1	261	0.0038	1988	c.101 others(2007): Show c.101+55930_101+55931insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTATTTTTTTTAATTTATTTTTTTATTGATAATTCTTGGGTGTT TCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGG TCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGGGGA CCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGA GTGGTGATGACTCTTAACCAGCATGCTGCCTTCAAGCATCTGTTTAACAA AGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACATAGCA CATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGATCCCAAGGCAGAGGAA TTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTC TACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCC CGCCTTTCTATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAAT GAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCT CCTCACCTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCTCCCCCCCCGCCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGAACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGGCTGGCCCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCTGAGCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGGGGGCCGGCCCCCCCACCTCCCTTTCGGATGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCT CCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC AGGCGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCC GGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCC GGGCCGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCAC CTCCCTCCCGGATGGGGTGGCTGGCCAGGCGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCA GATGGGGTGGCTGCCAGGCGGAGAGGCTCCTCACTTCTCAGACGGGGCAG CTGCCCGGCGGAGGGGCTCCTCACTTCTCAGACGGGGTGGTTGCCAGGCA GAGGGTCTCCTC	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
TGS1_chr8_55768446_55831445	55815926	A A	ATTTATTT others(1981): Show ATTTATTTATTTATTTTATTTATTTATTTATGGAGATAGGGTTTCTCTCT GTCACGCAGACTGGAGTGCAGTAGCAGTAGCATGATCATAGCTCACTGCA ACCTCAAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTTCTAAAGT GCTGGGATCTCAAATCCAATTCAAAAAGCCCAGAGTAAGCATATTTTATC TGCTTGATGCCTGTATCTTGCCATGCTTTCCTTTCTTTCTTTCCTTGGAC AGCTGGAGAATTCCAGCTAATTCTAGCTTTGGATCTACCATGCTTCACAA ACATGAAAGGTTTCTCTCTTAAGTGGTAAACCTATTGAACATATTAATAG ATGGAAATCTCTGAACAGACAAGGACTTAGTCCTTCCCAAAGGAAGATGC AGGCAGCAATTATCAAACACCACCTTTGTGTGAAATCCTTGTGGGTGGAA TCTCTGACATAAGGAGTCTTGTCTCTTAGCCCAAGGCAGGAATGAAGAGA GGAAGTCTGCTGGTCCGTTTGATATGGCAGCTTCTCATCCTTGTTTAATT TTATAATTAGACATAAAACATCTAGTCTCAGAAAAGCAATAGCGTTTGTA CTTTTCAGGTAAGATAAGTTAAGTTACTTATCTTTGTCATGGTATGTATC TTACCAATACAGAGAGCAGGGCAACATTAAGCAACATCCCTAAGAATTAT GTTTAAAAAATGAACTGTATCATGTTAATTCCTGGCCTTTGTCTGGCAGA CATACTCCACCCTTCCATGGCTTCCCCAGGCACATGTCATGTAACATTTG GGCAAGGCAAATCCTACCTTTTTTGTTTCCTCATAAAGCGGAGAAGTTTA CAAATTAACTAATACTTAAATAAATGCTAAGTATAAAATTGATGTTAGAT TTAATAATGGAATTCATCTCTATTTTATTTTATTTTATTTTTTTTGAGAC AGAGTCTTGCTCTGTTGCCCAGGCCAGAGTGCAGTGGTGTTTTATATCTA CTTCTCATATGATTCAGAGCTGCTTTCTAGACTGCCAGATAAGGTTGAGC CTAACAATTCCATAATTTCTGTTTTTCTCATATATGAATATTATGCTCTA CATCGTCTCATCAGAGACGATGTGATCCTTATATTAAATGTAGACAGCCT CATTTGAGTACTTGAATAACGAGAGGAAATTCACTGTTTATCATGCAATT TATGCTGATTAACTTTTTCTAGTTACATTAACACTTTCACAAAGAGAAAG TTAACTTTTTAATTTGTGTTTTTGGTTTATTTCAAAAACTTTCCAGAATT GGAGTTGGTGATTCATGTTTTTTTGCCTCTAGAGGGAGTAATGACACTAG GGAATAATGAAACCAAGAAAGACTGATGAGATTTCAAGTGTATTAATTTT TTTTGCTATCAAATTTTGATCAGATTACAGTGGGAAATCAACTTTTTTTT AATGAAGAAAATGTATCCGTATGTAGGACCTTTTTAATGACAGGAGACAG TACTAAAAATTGAGAGAAATCACAGTTGCAAAGAAAATTAACTTTTTTTT GTTAAGGAACTTTTAGAATGTTACAACAACCTGAATTTGCAAATGGTTTG GGATCCCAAGTGTGTCACTGTCTGCTGTTTGAAACTCAGGCTGCATTTTT CTCATATGAAGGACAGTTAATTTCCCATCCAGGGAGATTGTACTCTTAGA TAATATTTATATCATCCTAAACAGCATGGATTCAATACAAATACAACTTA TCTCAAATATTTCCATGTAAGAGGTGATGCTAATTGTTTCCTGTATCTAG TGAAATGTTTTCCTAGGTCCCTTATTACCTCAATCTTCTATTCCTTTTTT CTATTTGGAGATGATTCCAAGACATGCATTTCTTGCTAAGAACTGAGTAA TTTAGAAAAATATCTTTTTGTGAGAGGCTCTTTGGAGGTAAGGTATATAC CTTACTCTTGAAATTGCTGTTGAAACCCAAGGACTAATT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0280 a0002c0002t0003g0280	1	368	0.0027	1988	c.243 others(2007): Show c.2439+2823_2439+2824insTATTTATTTATTTATGGAGATAGGGT TTCTCTCTGTCACGCAGACTGGAGTGCAGTAGCAGTAGCATGATCATAGC TCACTGCAACCTCAAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCT TCTAAAGTGCTGGGATCTCAAATCCAATTCAAAAAGCCCAGAGTAAGCAT ATTTTATCTGCTTGATGCCTGTATCTTGCCATGCTTTCCTTTCTTTCTTT CCTTGGACAGCTGGAGAATTCCAGCTAATTCTAGCTTTGGATCTACCATG CTTCACAAACATGAAAGGTTTCTCTCTTAAGTGGTAAACCTATTGAACAT ATTAATAGATGGAAATCTCTGAACAGACAAGGACTTAGTCCTTCCCAAAG GAAGATGCAGGCAGCAATTATCAAACACCACCTTTGTGTGAAATCCTTGT GGGTGGAATCTCTGACATAAGGAGTCTTGTCTCTTAGCCCAAGGCAGGAA TGAAGAGAGGAAGTCTGCTGGTCCGTTTGATATGGCAGCTTCTCATCCTT GTTTAATTTTATAATTAGACATAAAACATCTAGTCTCAGAAAAGCAATAG CGTTTGTACTTTTCAGGTAAGATAAGTTAAGTTACTTATCTTTGTCATGG TATGTATCTTACCAATACAGAGAGCAGGGCAACATTAAGCAACATCCCTA AGAATTATGTTTAAAAAATGAACTGTATCATGTTAATTCCTGGCCTTTGT CTGGCAGACATACTCCACCCTTCCATGGCTTCCCCAGGCACATGTCATGT AACATTTGGGCAAGGCAAATCCTACCTTTTTTGTTTCCTCATAAAGCGGA GAAGTTTACAAATTAACTAATACTTAAATAAATGCTAAGTATAAAATTGA TGTTAGATTTAATAATGGAATTCATCTCTATTTTATTTTATTTTATTTTT TTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCCAGAGTGCAGTGGTGTTT TATATCTACTTCTCATATGATTCAGAGCTGCTTTCTAGACTGCCAGATAA GGTTGAGCCTAACAATTCCATAATTTCTGTTTTTCTCATATATGAATATT ATGCTCTACATCGTCTCATCAGAGACGATGTGATCCTTATATTAAATGTA GACAGCCTCATTTGAGTACTTGAATAACGAGAGGAAATTCACTGTTTATC ATGCAATTTATGCTGATTAACTTTTTCTAGTTACATTAACACTTTCACAA AGAGAAAGTTAACTTTTTAATTTGTGTTTTTGGTTTATTTCAAAAACTTT CCAGAATTGGAGTTGGTGATTCATGTTTTTTTGCCTCTAGAGGGAGTAAT GACACTAGGGAATAATGAAACCAAGAAAGACTGATGAGATTTCAAGTGTA TTAATTTTTTTTGCTATCAAATTTTGATCAGATTACAGTGGGAAATCAAC TTTTTTTTAATGAAGAAAATGTATCCGTATGTAGGACCTTTTTAATGACA GGAGACAGTACTAAAAATTGAGAGAAATCACAGTTGCAAAGAAAATTAAC TTTTTTTTGTTAAGGAACTTTTAGAATGTTACAACAACCTGAATTTGCAA ATGGTTTGGGATCCCAAGTGTGTCACTGTCTGCTGTTTGAAACTCAGGCT GCATTTTTCTCATATGAAGGACAGTTAATTTCCCATCCAGGGAGATTGTA CTCTTAGATAATATTTATATCATCCTAAACAGCATGGATTCAATACAAAT ACAACTTATCTCAAATATTTCCATGTAAGAGGTGATGCTAATTGTTTCCT GTATCTAGTGAAATGTTTTCCTAGGTCCCTTATTACCTCAATCTTCTATT CCTTTTTTCTATTTGGAGATGATTCCAAGACATGCATTTCTTGCTAAGAA CTGAGTAATTTAGAAAAATATCTTTTTGTGAGAGGCTCTTTGGAGGTAAG GTATATACCTTACTCTTGAAATTGCTGTTGAAACCCAAGGACTAATTTTT ATTTATTTATTT	TGS1	ENSG00000137574.11	transcript	ENST00000260129.6	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
YBEY_chr21_46281342_46302751	46293880	A A	ACAGCCAC others(1981): Show ACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC ATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC ACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCC GGGACTCAGTGGAGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGG GACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTA GATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC ACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACAC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	296	0.0034	1988	c.340 others(2005): Show c.340-2275_340-2274insGCAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTA AACTCTAGATTAAATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCATGCCCGGGACTCAGTGGAGACAGCCACACAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGG AGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAG TCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGAT TCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCA CACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACG CAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AGTCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ARHGEF16_chr1_3449665_3486113	3477303	G G	GTCACCCC others(1982): Show GTCACCCCCACACTACCCACCCCCATCACCCCACAACCCACCCCCATCAC CCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCACAC TACCCATCCCCATCACCCCCACACGACCCACCCCCATCACCCCCACACTA CCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCA CCCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCC CCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCA TCACCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCAC CCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCGCACA CTACCCACCCCCATCACCCCACACTACCCATCCCCATCACCCCCACACGA CCCACCCCATCACCCCACACGACCCACCCCCATCACCCTCACTACCCACC CCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCC ATCACCCCACACTACCCACCCCTATCACCCCACACTACCCACCCCCATCA CCCCACACTACCCACCCCATCACCCTCACTACCCACCCCATCACCCCACA CTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACC CACCCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCAC CCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCC ATCACCCTCACTACCCACCCCATCACCCCCACACTACCCACCCCCATCAC CCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCC CACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCACA CTACCCACCCCCATCACCCCCACACTACCCACCCCTATCACCCCCACACT ACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCC ACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCAC CCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCC CATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCA TCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCAC CCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCC ACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCCACAC TACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTAC CCACCCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCA CCCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCC CCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCA TCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCA GCCCCACTACCCACCCCCATCACCCTCACTACCCATCACCCGCACACTAC CCACCCCATCACCCGCACACTACCCACCCCATCACCCGCACACTACCCAG GCCCATCACCCCGCTACCCACCCCATCACCCCCACGCCACCCACCCCATC ACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCC CCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01069.hp1 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	2	51	0.0392	1989	c.147 others(2006): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCACACT ACCCATCCCCATCACCCCCACACGACCCACCCCCATCACCCCCACACTAC CCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCAC CCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCC CATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCAT CACCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCGCACAC TACCCACCCCCATCACCCCACACTACCCATCCCCATCACCCCCACACGAC CCACCCCATCACCCCACACGACCCACCCCCATCACCCTCACTACCCACCC CCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCA TCACCCCACACTACCCACCCCTATCACCCCACACTACCCACCCCCATCAC CCCACACTACCCACCCCATCACCCTCACTACCCACCCCATCACCCCACAC TACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACCC ACCCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACC CCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCA TCACCCTCACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCAC ACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCACAC TACCCACCCCCATCACCCCCACACTACCCACCCCTATCACCCCCACACTA CCCACCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCA CCCCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACC CCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCC ATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCAT CACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACC CCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCCA CACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCCACACT ACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACC CACCCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCAC CCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCC CATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCAT CACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCAG CCCCACTACCCACCCCCATCACCCTCACTACCCATCACCCGCACACTACC CACCCCATCACCCGCACACTACCCACCCCATCACCCGCACACTACCCAGG CCCATCACCCCGCTACCCACCCCATCACCCCCACGCCACCCACCCCATCA CCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCC CACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACA CTACCCACCCC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf127_chr1_10941475_10987076	10971075	A A	AGAGGCAG others(1982): Show AGAGGCAGAGGCTGCAGTGAGTCCAGCCTGGGGGACAGAGTGAGACCCTG TCTCAAAAAGAAAAAAAAAACAGCATAGGCACTGGTGTCAGTAGGCATCT GGGTTTGAATCCCACCTCTGTTGTGTGTATGTGTGTGTGTGTGTGTGTGT ACCTGTTGCTTAGTTTCAGTTTATTTCTGTGAGTTGATTGTATGATAATG ATGGTGATGATAGTAATAATAGTGATGGTAGTAGAGGGATGATATTGATG GTGATGGTGGTGATGATGATGTGAATGGTGGTGATGATAGTGATGGTGGT GATGGTGGTGATGATGATGGTGATGGTGACAATCATGGTAGTGATGGTCA CAGTGATGATGGTGCTGGTGATGGTGGTGATGATGGTGTTAATGGTGGTG ATGATAGAAATGATGGTGGTGATGATGGTGTTAATGGTGGTGATGATAGT AATGATGGTGGTGATGGTGGTGATCATGATGGTGATGGTGACAATCGTGG TAGTGATGGTCACAGTGATGATGGTGCTACTGATGGTGATGATGATGGTG TTAATGGTGGTGATGATAGTGATGGTGGTGATCATGATGGTGATGGTGAT AATCGTGGTAGTGATGGTCACAGTGCTGATGGTGCTGGTGATGGTGGTGA TGGTGTTATTTGTGGTAGTGATGATGGTGATAATAGTGATATGATGATGG TGATTATGGTGTCGGTGGTGGTAATGATGGTGGTAGTGATGATGGTGGTA TTGGTGCTAGTGACAGTGATGATGGCAATAATAGTGATGGTGACTATGGT GGTGATGGTGGTGGTGGTAATGGTGGTGATGATAGTAATGATGGTGGTGA TGGTGGTGATCACGATGGTGATGGTGATAATCGTGGTAGTGATGGTCACA GTGATGATGGTGGTGATGATGGTGTTAATGGTGGTGATGATAGTAATGAT GGTGGTGATCATGATGGTGATGGTGATAATCGTGGTAGTGATGGTCACAG TGATGATGGTGGTGATGGTGTTAATGGTGGTGATGATAGTAATGATGGTG GTGATCATGATGGTGATGGTGATAATTGTGGTAGTGATGGTCACAGTGAT GATGGTGCTGGTGATGGTGTTATTCATGGTAGTGATTATGGCAATAATAG TGATATGATGATGGTGATTATGGTGTCGATGGTGGTGGTAATGATGCTGG TAGTGATGATGGTGGTACTGGTGCTAGTGACAGTGATGATGGCAATAATA GTGATGGTGACTATGGTGGTGATGGTGGTGGTGATGTGGTGGTGGTAATG GTGGTGATGGTGGTGATGATGGCAGTGATGGGACTTCATAAGATGTGAGA CTTTAATGAGTTAACACATATAAAAGTCTTTACAGGGTGATCACTGCAGA GCACTTGCCTAAAGGTGACAGCTCTTATGATAATAATAATTACTGTCATC CAGAGATGAAAGGACTTATCCAGGAACAGAGCAGCAGGACCAGCGGCCCA AACTCCCCACCATCATTTTCCAGCCCATCACAGAGCCAGACGGAGTATTA GAGAAATCGAGTAAATGTTAGAATACACATGACACTGAATCAATAACGAA CCCAATGTTGTGTTCCTCTGCAGGTATGAGACATATGTCTGACTCCTACA GGCCTCAGGGCTTCATTGTGGACACAGCCTCCCACTGTCTAGGAGAGCTG GTAGAGAAACTGGGAGGTCTCCCCTGAATCTGCTTGACATGGATTATGGG ATACTCACGTGTACTTTAAAAAATACAGGCTGGGGCCGAGCACGGTGGCT CACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAG GTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTAC TAAACATACAAAAATTAGCAGGGCATGGTGGTGTGTACCTGTAATCCCAG CTACCCAGGAGGCTGAGGCAGGAGAATCACTGGAACCCGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0105 a0005c0008t0004g0105	1	89	0.0112	1989	c.128 others(2004): Show c.128-987_128-986insCCGGGTTCCAGTGATTCTCCTGCCTCAGCC TCCTGGGTAGCTGGGATTACAGGTACACACCACCATGCCCTGCTAATTTT TGTATGTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTG AACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGGT TACAGGCGTGAGCCACCGTGCTCGGCCCCAGCCTGTATTTTTTAAAGTAC ACGTGAGTATCCCATAATCCATGTCAAGCAGATTCAGGGGAGACCTCCCA GTTTCTCTACCAGCTCTCCTAGACAGTGGGAGGCTGTGTCCACAATGAAG CCCTGAGGCCTGTAGGAGTCAGACATATGTCTCATACCTGCAGAGGAACA CAACATTGGGTTCGTTATTGATTCAGTGTCATGTGTATTCTAACATTTAC TCGATTTCTCTAATACTCCGTCTGGCTCTGTGATGGGCTGGAAAATGATG GTGGGGAGTTTGGGCCGCTGGTCCTGCTGCTCTGTTCCTGGATAAGTCCT TTCATCTCTGGATGACAGTAATTATTATTATCATAAGAGCTGTCACCTTT AGGCAAGTGCTCTGCAGTGATCACCCTGTAAAGACTTTTATATGTGTTAA CTCATTAAAGTCTCACATCTTATGAAGTCCCATCACTGCCATCATCACCA CCATCACCACCATTACCACCACCACATCACCACCACCATCACCACCATAG TCACCATCACTATTATTGCCATCATCACTGTCACTAGCACCAGTACCACC ATCATCACTACCAGCATCATTACCACCACCATCGACACCATAATCACCAT CATCATATCACTATTATTGCCATAATCACTACCATGAATAACACCATCAC CAGCACCATCATCACTGTGACCATCACTACCACAATTATCACCATCACCA TCATGATCACCACCATCATTACTATCATCACCACCATTAACACCATCACC ACCATCATCACTGTGACCATCACTACCACGATTATCACCATCACCATCAT GATCACCACCATCATTACTATCATCACCACCATTAACACCATCATCACCA CCATCATCACTGTGACCATCACTACCACGATTATCACCATCACCATCGTG ATCACCACCATCACCACCATCATTACTATCATCACCACCATTACCACCAC CACCATCACCACCATAGTCACCATCACTATTATTGCCATCATCACTGTCA CTAGCACCAATACCACCATCATCACTACCACCATCATTACCACCACCGAC ACCATAATCACCATCATCATATCACTATTATCACCATCATCACTACCACA AATAACACCATCACCACCATCACCAGCACCATCAGCACTGTGACCATCAC TACCACGATTATCACCATCACCATCATGATCACCACCATCACTATCATCA CCACCATTAACACCATCATCATCACCATCAGTAGCACCATCATCACTGTG ACCATCACTACCACGATTGTCACCATCACCATCATGATCACCACCATCAC CACCATCATTACTATCATCACCACCATTAACACCATCATCACCACCATCA TTTCTATCATCACCACCATTAACACCATCATCACCACCATCACCAGCACC ATCATCACTGTGACCATCACTACCATGATTGTCACCATCACCATCATCAT CACCACCATCACCACCATCACTATCATCACCACCATTCACATCATCATCA CCACCATCACCATCAATATCATCCCTCTACTACCATCACTATTATTACTA TCATCACCATCATTATCATACAATCAACTCACAGAAATAAACTGAAACTA AGCAACAGGTACACACACACACACACACACATACACACAACAGAGGTGGG ATTCAAACCCAGATGCCTACTGACACCAGTGCCTATGCTGTTTTTTTTTT CTTTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGACTCACTGCAGC CTCTGCCTC	C1orf127	ENSG00000175262.15	transcript	ENST00000377004.9	protein_coding	2/12			chr1	TogoVar
C1orf127_chr1_10941475_10987076	10971075	A A	AGAGGCAG others(1982): Show AGAGGCAGAGGCTGCAGTGAGTCCAGCCTGGGGGACAGAGTGAGACCCTG TCTCAAAAAGAAAAAAAAAACAGCATAGGCACTGGTGTCAGTAGGCATCT GGGTTTGAATCCCACCTCTGTTGTGTGTATGTGTGTGTGTGTGTGTGTGT ACCTGTTGCTTAGTTTCAGTTTATTTCTGTGAGTTGATTGTATGATAATG ATGGTGATGATAGTAATAATAGTGATGGTAGTAGAGGGATGATATTGATG GTGATGGTGGTGATGATGATGTGAATGGTGGTGATGATAGTGATGGTGGT GATGGTGGTGATGATGATGGTGATGGTGACAATCATGGTAGTGATGGTCA CAGTGATGATGGTGCTGGTGATGGTGGTGATGATGGTGTTAATGGTGGTG ATGATAGAAATGATGGTGGTGATGATGGTGTTAATGGTGGTGATGATAGT AATGATGGTGGTGATGGTGGTGATCATGATGGTGATGGTGACAATCGTGG TAGTGATGGTCACAGTGATGATGGTGCTACTGATGGTGATGATGATGGTG TTAATGGTGGTGATGATAGTGATGGTGGTGATCATGATGGTGATGGTGAT AATCGTGGTAGTGATGGTCACAGTGCTGATGGTGCTGGTGATGGTGGTGA TGGTGTTATTTGTGGTAGTGATGATGGTGATAATAGTGATATGATGATGG TGATTATGGTGTCGGTGGTGGTAATGATGGTGGTAGTGATGATGGTGGTA TTGGTGCTAGTGACAGTGATGATGGCAATAATAGTGATGGTGACTATGGT GGTGATGGTGGTGGTGGTAATGGTGGTGATGATAGTAATGATGGTGGTGA TGGTGGTGATCACGATGGTGATGGTGATAATCGTGGTAGTGATGGTCACA GTGATGATGGTGGTGATGATGGTGTTAATGGTGGTGATGATAGTAATGAT GGTGGTGATCATGATGGTGATGGTGATAATCGTGGTAGTGATGGTCACAG TGATGATGGTGGTGATGGTGTTAATGGTGGTGATGATAGTAATGATGGTG GTGATCATGATGGTGATGGTGATAATTGTGGTAGTGATGGTCACAGTGAT GATGGTGCTGGTGATGGTGTTATTCATGGTAGTGATTATGGCAATAATAG TGATATGATGATGGTGATTATGGTGTCGATGGTGGTGGTAATGATGCTGG TAGTGATGATGGTGGTACTGGTGCTAGTGACAGTGATGATGGCAATAATA GTGATGGTGACTATGGTGGTGATGGTGGTGGTGATGTGGTGGTGGTAATG GTGGTGATGGTGGTGATGATGGCAGTGATGGGACTTCATAAGATGTGAGA CTTTAATGAGTTAACACATATAAAAGTCTTTACAGGGTGATCACTGCAGA GCACTTGCCTAAAGGTGACAGCTCTTATGATAATAATAATTACTGTCATC CAGAGATGAAAGGACTTATCCAGGAACAGAGCAGCAGGACCAGCGGCCCA AACTCCCCACCATCATTTTCCAGCCCATCACAGAGCCAGACGGAGTATTA GAGAAATCGAGTAAATGTTAGAATACACATGACACTGAATCAATAACGAA CCCAATGTTGTGTTCCTCTGCAGGTATGAGACATATGTCTGACTCCTACA GGCCTCAGGGCTTCATTGTGGACACAGCCTCCCACTGTCTAGGAGAGCTG GTAGAGAAACTGGGAGGTCTCCCCTGAATCTGCTTGACATGGATTATGGG ATACTCACGTGTACTTTAAAAAATACAGGCTGGGGCCGAGCACGGTGGCT CACGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAG GTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTAC TAAACATACAAAAATTAGCAGGGTATGGTGGTGTGTACCTGTAATCCCAG CTACCCAGGAGGCTGAGGCAGGAGAATCACTGGAACCCGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0375 a0001c0003t0001g0375	1	89	0.0112	1989	c.128 others(2004): Show c.128-987_128-986insCCGGGTTCCAGTGATTCTCCTGCCTCAGCC TCCTGGGTAGCTGGGATTACAGGTACACACCACCATACCCTGCTAATTTT TGTATGTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTG AACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGGT TACAGGCGTGAGCCACCGTGCTCGGCCCCAGCCTGTATTTTTTAAAGTAC ACGTGAGTATCCCATAATCCATGTCAAGCAGATTCAGGGGAGACCTCCCA GTTTCTCTACCAGCTCTCCTAGACAGTGGGAGGCTGTGTCCACAATGAAG CCCTGAGGCCTGTAGGAGTCAGACATATGTCTCATACCTGCAGAGGAACA CAACATTGGGTTCGTTATTGATTCAGTGTCATGTGTATTCTAACATTTAC TCGATTTCTCTAATACTCCGTCTGGCTCTGTGATGGGCTGGAAAATGATG GTGGGGAGTTTGGGCCGCTGGTCCTGCTGCTCTGTTCCTGGATAAGTCCT TTCATCTCTGGATGACAGTAATTATTATTATCATAAGAGCTGTCACCTTT AGGCAAGTGCTCTGCAGTGATCACCCTGTAAAGACTTTTATATGTGTTAA CTCATTAAAGTCTCACATCTTATGAAGTCCCATCACTGCCATCATCACCA CCATCACCACCATTACCACCACCACATCACCACCACCATCACCACCATAG TCACCATCACTATTATTGCCATCATCACTGTCACTAGCACCAGTACCACC ATCATCACTACCAGCATCATTACCACCACCATCGACACCATAATCACCAT CATCATATCACTATTATTGCCATAATCACTACCATGAATAACACCATCAC CAGCACCATCATCACTGTGACCATCACTACCACAATTATCACCATCACCA TCATGATCACCACCATCATTACTATCATCACCACCATTAACACCATCACC ACCATCATCACTGTGACCATCACTACCACGATTATCACCATCACCATCAT GATCACCACCATCATTACTATCATCACCACCATTAACACCATCATCACCA CCATCATCACTGTGACCATCACTACCACGATTATCACCATCACCATCGTG ATCACCACCATCACCACCATCATTACTATCATCACCACCATTACCACCAC CACCATCACCACCATAGTCACCATCACTATTATTGCCATCATCACTGTCA CTAGCACCAATACCACCATCATCACTACCACCATCATTACCACCACCGAC ACCATAATCACCATCATCATATCACTATTATCACCATCATCACTACCACA AATAACACCATCACCACCATCACCAGCACCATCAGCACTGTGACCATCAC TACCACGATTATCACCATCACCATCATGATCACCACCATCACTATCATCA CCACCATTAACACCATCATCATCACCATCAGTAGCACCATCATCACTGTG ACCATCACTACCACGATTGTCACCATCACCATCATGATCACCACCATCAC CACCATCATTACTATCATCACCACCATTAACACCATCATCACCACCATCA TTTCTATCATCACCACCATTAACACCATCATCACCACCATCACCAGCACC ATCATCACTGTGACCATCACTACCATGATTGTCACCATCACCATCATCAT CACCACCATCACCACCATCACTATCATCACCACCATTCACATCATCATCA CCACCATCACCATCAATATCATCCCTCTACTACCATCACTATTATTACTA TCATCACCATCATTATCATACAATCAACTCACAGAAATAAACTGAAACTA AGCAACAGGTACACACACACACACACACACATACACACAACAGAGGTGGG ATTCAAACCCAGATGCCTACTGACACCAGTGCCTATGCTGTTTTTTTTTT CTTTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGACTCACTGCAGC CTCTGCCTC	C1orf127	ENSG00000175262.15	transcript	ENST00000377004.9	protein_coding	2/12			chr1	TogoVar
COL18A1_chr21_45400165_45518720	45500921	T T	TGTTGGGT others(1982): Show TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT GTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGTG TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGGTGTGTGTG TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG TGGGGGTGTGGTTTGTGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTT TTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGGTGTGGTGTGTGGT TGTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0008 a0001c0004t0001g0008	1	236	0.0042	1989	c.268 others(2008): Show c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGGTG TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGT GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTG TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT TGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTTTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGTGTGTGTGTTGGGT GTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT AGTGGGGGTGTGGTGTGTGGTTGTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
DOCK8_chr9_209865_470255	400506	T T	TCACCACC others(1982): Show TCACCACCTCCTCCATCACCACCACCATCTTCACCATCACCACCACCTTC ACCATCACCACCACCTCCACCACCATCACCACCACCACCGCCACCACCAC CATCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCA CCATCACCATCACCACCACCTCCACTATCACCACCACCTCCACCATCACC ACCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCAC CTCCACCATCACCACCACCACCTCCACCACCACCACCTCCACCACCACCA CCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACC ACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCACCTCCAC CACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCACAT CCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACC TCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCACCTCCAC CACCTCCACCACCACCACCACCTCCACCACCTCCACCACCACCACCACCA CCACCACCACCACCACCACCTCCACCATCACCACCACCACCTCCACCACC ACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCACCACCTCCACCACCACCTCCACCACCT CCACCACCACCACCACCTCCACCACCACCTCCACCACCACCACCACCACC ACCACCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCAC CACCACCACCTCCACCACCACCTCCACCACCTCCACCACCACCACCACCT CCACCACCACCTCCACCACCTCCACCATCACCACCACCACCTCCACCACC ACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCT CCACCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCTCC ACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTC CACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCTCCA CCACCTCCACCATCACCACCACCACCTCCACCATCACCATCACCACCACC ACCGCCACCACCACCATCACCACCACCTCCACCACCAGCACTTCCACCAT CACCACCACCTCCACCACCACCACCACCACCTCCACCATCACCACCACCA CCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACC ACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCAC CACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCACCACCA CCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACC ACCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCTCCAC CATCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCT CCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACC ACCTCCACCACCACCTCCACCACCTCCACCACCACCACCACCTCCACCAC CACCTCCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCA CCTCCACCACCACCACCACCACCACCTCCACCACCACCTCCACCACCACC ACCTCCACCACCACCACCACCTCCACCACCACCTCCACCACCTCCACCAC CACCACCACCTCCACCACCACCTCCACCACCTCCACCATCACCACCACCA CCTCCACCACCACCACCTCCACCACCACCACCACCTCCAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0047 a0047	a0047c0047 a0047c0047	a0047c0047t0008 a0047c0047t0008	a0047c0047t0008g0012 a0047c0047t0008g0012	1	181	0.0055	1989	c.323 others(2008): Show c.3234+1254_3234+1255insTCCTCCATCACCACCACCATCTTCAC CATCACCACCACCTTCACCATCACCACCACCTCCACCACCATCACCACCA CCACCGCCACCACCACCATCACCACCACCTCCACCACCAGCACTTCCACC ATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACTATCACCAC CACCTCCACCATCACCACCACCACCACCTCCACCACCACCACCACCACCA CCACCACCACCACCACCTCCACCATCACCACCACCACCTCCACCACCACC ACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCATCAC CACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTCCA CCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCTCC ACCACCACCACCACATCCACCACCACCACCTCCACCACCACCACCACCTC CACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCT CCACCACCACCTCCACCACCTCCACCACCACCACCACCTCCACCACCTCC ACCACCACCACCACCACCACCACCACCACCACCACCTCCACCATCACCAC CACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCA CCACCACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACC ACCACCTCCACCACCTCCACCACCACCACCACCTCCACCACCACCTCCAC CACCACCACCACCACCACCACCACCACCACCTCCACCACCACCTCCACCA CCACCACCTCCACCACCACCACCACCTCCACCACCACCTCCACCACCTCC ACCACCACCACCACCTCCACCACCACCTCCACCACCTCCACCATCACCAC CACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCA CCACCACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACC ATCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCAC CACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCA CCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCACC TCCACCACCACCTCCACCACCTCCACCATCACCACCACCACCTCCACCAT CACCATCACCACCACCACCGCCACCACCACCATCACCACCACCTCCACCA CCAGCACTTCCACCATCACCACCACCTCCACCACCACCACCACCACCTCC ACCATCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCAC CTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCA CCACCTCCACCATCACCACCACCACCTCCACCACCACCACCTCCACCACC ACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTCCACCAC CACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCACCA CCACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCACCTCC ACCACCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCAC CTCCACCACCACCACCACCTCCACCACCACCTCCACCACCTCCACCACCA CCACCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACC ACCACCTCCACCACCACCTCCACCACCACCACCACCACCACCTCCACCAC CACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCT CCACCACCTCCACCACCACCACCACCTCCACCACCACCTCCACCACCTCC ACCATCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCAC CTCCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
LMF1_chr16_848634_975984	914617	C C	CCATGACC others(1982): Show CCATGACCATTGGTGACACACTCCCTCCCTCCTTCCCATGACCATTGGTG ACACACTCCCTCCCTCCCTCCCCATGACCATTGGTGACACACTCCCTTCC TCCTTTCCATGACCACTGGTGACACACTCCCTCCCTCCTTCCCATGACCA TTGGTAACACACTCCCTCCCTCCTTCCCATGACCACTGGTGACACACTCC CTCCCTCCCTCCCCATGACCATTGGTGACACACTCCCTCCCTCCCTCCCT TCCCATGACCATTGGTGACACACTCCTTCCCTCCCTCCCCATGACCATTG GTGACACACTCCCTCCCTCCCTCCCCATGACCATTGGTGACACACTCCCT CCCTCCCTCCCTTCCCATGACCATTGGTAACACACTCCCTCCCTCCCTTC CCATGACCATTGGTGACACACTCCCTCCCTCCCTCCCCATGACTATCAGT GACACACTCCCTCCCTCCCTCATGACCATTGGTGACACACTCCCTCCCTC CTGATGACCATTGGTGACACACTACCTCCCTCCCTCCCCATGACCATTGG TGAAACATTCCCTCCCTCCCTCCCTCCCTCCCAATGACTATTGGTGACAC ACTCCCTCCCTCCCTCCCTCCTCATGACCATTGGTGACACGATCCCTCCC TCCCTCCCTTCCCGTGACCATTGGTGACACACTCCGTCCCTCCTTTCCCA TGACCATTGGTGACACACTCCCTCCCTCCCTCCCCATGACTATTGGTGAC ACACTCCCTCCCTCCCTCATGACCATTGGTGACACACTCCCTCCCTCCCT CCCCATGACTTGGTGACACACTCCCTCCCTCCCTCCTCATGACGATTGGT GACACACTACCTCCCTCCTTCCTCATGACCATTGGTGACACACTCCCTCC CTCCCTCCCTTCCCATGACCATTGGTGACACACTCCCTCCCTCCCTCCCT CCCCATGACTATCGGTGACACACTCCCTCCCTCCCCATGACTATCGGTGA CACACTCCCTCCCTCCTCATGACCATTGGTGACACAATCCCTCCCTCCCC ATGACTATCGGTGACACACTCCCTCCCTCCTCATGACCATTGGTGACACA CTCCCTCCCTCCCTCCCCATGACCATTGGTGACACACTCCCTCCCTCCCT CCCCATGACCATTGGTGACACACTCCCTTCCTCCCTTCCTATGACCATTG GTGACACACTCCCTCCCTCCCTTCCCATGACCATTGGTGACACAATCCCT CCCTCCCTTCCCACGACCATTGGTGACACAATCCCTCCCTCCCTTCCCAT GACCATTGGTGACACACTCCCTCCCTCCCTTCACATGACCATTGGTGACA CACTCCCTCCCTCCCTTCCCATGACCACTGGTGACACACTCCCTCCGTTC CTCCCCATGACCATTGGTGACACACTCCCTCCCTCCCCATGACTATTGGT AACACACTCCCTCCATCCCTCCCCATGACTATTGATGACACTCTCCCTCC CTCCTTCCCTCCTCATAACCATTGGTGACACACTCCCTCCCTCCCTCCCA ATGACTATTGGTGACACACTCCCTCCCTCCCTCCCCATGACTATTGGTGA CACACTCCCTCCCTTCCTCATGACCATTGGTGACACACTGCCTCCCTCCC CATGACTACTGGTGACACACTCCCTCCCTCCCTCTTCATGACCATTGGTG ACACACTCCCTCCCTCCCTCCCCATGACCATTGGTGACACACTCCCTCCC TCCTCATGAGCATTGGTGACACACTCCCTCCCTCCCATGACCATTGGTGA CACACTCCCTCCCTCCCTCCTCATGACCATTGGTGGCACACTCCCTCCCT CCTTATGACCATTGGTGACACACTCCCTCCCTCCCTATGACTATTGGTGA CACACTCCCTCCCTCCCTCATGACCATTGGTGACACATTCCCTCCCTCCA TCCTCATGACCATTGGTGACACACTCCCTCCCTCCCTCCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	4	0.2500	1989	c.515 others(2006): Show c.515-3539_515-3538insAGGAGGGAGGGAGGGAGTGTGTCACCAA TGGTCATGAGGATGGAGGGAGGGAATGTGTCACCAATGGTCATGAGGGAG GGAGGGAGTGTGTCACCAATAGTCATAGGGAGGGAGGGAGTGTGTCACCA ATGGTCATAAGGAGGGAGGGAGTGTGCCACCAATGGTCATGAGGAGGGAG GGAGGGAGTGTGTCACCAATGGTCATGGGAGGGAGGGAGTGTGTCACCAA TGCTCATGAGGAGGGAGGGAGTGTGTCACCAATGGTCATGGGGAGGGAGG GAGGGAGTGTGTCACCAATGGTCATGAAGAGGGAGGGAGGGAGTGTGTCA CCAGTAGTCATGGGGAGGGAGGCAGTGTGTCACCAATGGTCATGAGGAAG GGAGGGAGTGTGTCACCAATAGTCATGGGGAGGGAGGGAGGGAGTGTGTC ACCAATAGTCATTGGGAGGGAGGGAGGGAGTGTGTCACCAATGGTTATGA GGAGGGAAGGAGGGAGGGAGAGTGTCATCAATAGTCATGGGGAGGGATGG AGGGAGTGTGTTACCAATAGTCATGGGGAGGGAGGGAGTGTGTCACCAAT GGTCATGGGGAGGAACGGAGGGAGTGTGTCACCAGTGGTCATGGGAAGGG AGGGAGGGAGTGTGTCACCAATGGTCATGTGAAGGGAGGGAGGGAGTGTG TCACCAATGGTCATGGGAAGGGAGGGAGGGATTGTGTCACCAATGGTCGT GGGAAGGGAGGGAGGGATTGTGTCACCAATGGTCATGGGAAGGGAGGGAG GGAGTGTGTCACCAATGGTCATAGGAAGGGAGGAAGGGAGTGTGTCACCA ATGGTCATGGGGAGGGAGGGAGGGAGTGTGTCACCAATGGTCATGGGGAG GGAGGGAGGGAGTGTGTCACCAATGGTCATGAGGAGGGAGGGAGTGTGTC ACCGATAGTCATGGGGAGGGAGGGATTGTGTCACCAATGGTCATGAGGAG GGAGGGAGTGTGTCACCGATAGTCATGGGGAGGGAGGGAGTGTGTCACCG ATAGTCATGGGGAGGGAGGGAGGGAGGGAGTGTGTCACCAATGGTCATGG GAAGGGAGGGAGGGAGGGAGTGTGTCACCAATGGTCATGAGGAAGGAGGG AGGTAGTGTGTCACCAATCGTCATGAGGAGGGAGGGAGGGAGTGTGTCAC CAAGTCATGGGGAGGGAGGGAGGGAGTGTGTCACCAATGGTCATGAGGGA GGGAGGGAGTGTGTCACCAATAGTCATGGGGAGGGAGGGAGGGAGTGTGT CACCAATGGTCATGGGAAAGGAGGGACGGAGTGTGTCACCAATGGTCACG GGAAGGGAGGGAGGGAGGGATCGTGTCACCAATGGTCATGAGGAGGGAGG GAGGGAGGGAGTGTGTCACCAATAGTCATTGGGAGGGAGGGAGGGAGGGA GGGAATGTTTCACCAATGGTCATGGGGAGGGAGGGAGGTAGTGTGTCACC AATGGTCATCAGGAGGGAGGGAGTGTGTCACCAATGGTCATGAGGGAGGG AGGGAGTGTGTCACTGATAGTCATGGGGAGGGAGGGAGGGAGTGTGTCAC CAATGGTCATGGGAAGGGAGGGAGGGAGTGTGTTACCAATGGTCATGGGA AGGGAGGGAGGGAGGGAGTGTGTCACCAATGGTCATGGGGAGGGAGGGAG GGAGTGTGTCACCAATGGTCATGGGGAGGGAGGGAAGGAGTGTGTCACCA ATGGTCATGGGAAGGGAGGGAGGGAGGGAGTGTGTCACCAATGGTCATGG GGAGGGAGGGAGGGAGTGTGTCACCAGTGGTCATGGGAAGGAGGGAGGGA GTGTGTTACCAATGGTCATGGGAAGGAGGGAGGGAGTGTGTCACCAGTGG TCATGGAAAGGAGGAAGGGAGTGTGTCACCAATGGTCATGGGGAGGGAGG GAGGGAGTGTGTCACCAATGGTCATGGGAAGGAGGGAGGGAGTGTGTCAC CAATGGTCATG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar
MICAL3_chr22_17782649_18029561	17877036	G G	GGGAAGTT others(1982): Show GGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATG GAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGA AGTTATGGAGGTTATGGCAGTTATGGAGGTGAGGGAGGTTATGGAGGTTA GGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAG GTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAG GGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGG TTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAAGTTATG GAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGT TATGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGG AGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTT AGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGA GATTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTAT GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGG TTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGATTATG GAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAGGTTAGGG AGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTGAGGGAGGTT ATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGA GGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTTA GGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGTTAG GGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGG TTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGG GAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGT TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGG AGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTT ATGGAGGTTAGGGAAGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTA TGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	212	0.0047	1989	c.224 others(2008): Show c.2242-5014_2242-5013insATAACCTCCATAACCTCCCTCACCTC CCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAA CCTCCCTCACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCC CTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAAC CTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACT TCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCAT AACTTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCATAACCT CCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTC ACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTC CCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAA CCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTCACCTCC CTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCATAACTTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTTCCC TAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACC TCCCTAACCTCCATAACCTCCCTCACCTCCATAACTGCCATAACCTCCAT AACTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCCTAACCT CCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTA ACCTCCCTAACCTCCATAATCTCCCTAACCTCCCTAACCTCCCTAACCTC CATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCCTAA CCTCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCCTAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCC TAACCTCCATAATCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACC TCCATAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACCTCCAT AACTTCCCTAACCTCCATAACCTCCATAACCTCCCTCACCTCCCTAACCT CCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTC ACCTCCATAACCTCCATAACTTCCCTAACCTCCATAATCTCCCTAACCTC CATAACTTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAA CCTCCCTAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCC CTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAAC CTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACTGCCA TAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTCACC TCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCAT AACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCT CCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATA ACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTC CCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCC CTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCATAACTTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877558	T T	TGGAGGTT others(1982): Show TGGAGGTTAGGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGG TGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGG AGATTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTT AGGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGA GATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTA GGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAG GTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTAT GGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGG GAAGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAGGTTATGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTGAGGG AGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGT TATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGG AAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTT ATGGAGGTTAGGGAGATTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGA GGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTA GGGAGATTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGG GAGGTTATGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTGAGGGAGGT TATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGG AGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAG	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	216	0.0046	1989	c.224 others(2008): Show c.2242-5536_2242-5535insCTCACCTCCATAACCTCCCTAACCTC CATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAA CTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCAC CTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCA TAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACC TCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCT CACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCT CCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACTTCCCTA ACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTC CATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CTTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCC CTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAAC CTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAACTTCCC TAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCATAATC TCCCTAACCTCCATAACTGCCATAACCTCCATAACCTCCCTAACCTCCAT AACCTCCATAACTTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTG CCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATA ACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTC CCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAA CCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCC ATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAAC TTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACC TCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCT AACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACTTCCCTAACCT CCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATA ACCTCCCTAACTTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTC CATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAA CTTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCC ATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAAC CTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCC TAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAACC TCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCT AACCTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCT CCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTC ACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTC CATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCC ATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAAC CTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
NXN_chr17_794310_984776	952378	G G	GGTCAGAG others(1982): Show GGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGGGTCAG ACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGG GGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGA CGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCG GCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACC AAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTG GAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACA CTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTA CCACGGACGGTCACACTGTGGGGGGGGGCTGGAGTCAGAGAGACCAAGGT TGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGGCTGGGG TCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTG TGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCAC GGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAAC CCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAG ACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGC TGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCA CACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGT ACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTT GGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCA GACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGG GGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGA CGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCG GCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACC AAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTG GAGTCAGACCAAGGTTGCAACCCGGCAGGTACCACGGACGGTCACACTGT GGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACG GACGGTCACACTGTGGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAAC CCGGCAGGTACCACGGACGGTCACACTGTGGGGGGCTGGAGTCAGACAGA CCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGC TGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCA CACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGT ACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTT GGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTC AGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTG GGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGG ACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACC CGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	114	0.0088	1989	c.360 others(2008): Show c.360+26940_360+26941insTCCAGCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCC CACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCT GACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCA ACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCA GCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGG TCTGTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCG GGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCACAGTGTGACCGTCC GTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTGCAA CCTTGGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTC TGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCC AACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCA GCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGG TCTGTCTGACTCCAGCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGG GTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTCC GTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCA CAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGA CCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAAC CTTGGTCTCTCTGACCCCAGCCCCCCCCCACAGTGTGACCGTCCGTGGTA CCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCCACAGT GTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCC AGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTT GGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTC TGACCCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTC CAACCTTGGTCTGTCTGACCCCAGCCCCCCCCACAGTGTGACCGTCCGTG GTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACA GTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACT CCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCT TGGTCTCTCTGAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
RAB11FIP3_chr16_420649_528011	458604	G G	GGGTTCAC others(1982): Show GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGG CCTGGGGGGCCTTCCTCGGGTTCAGTGATGTTCACAGGGCCTGGGGGGCC TTCCTCGGGTTCAGTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTC ACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGGCCTGG GGGGCCTTCCTCAGATTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCT CGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTG ATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCACCGATGCCCACAGG GCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGC CTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGT TCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCC CACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTG GGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCC TCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACC GATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAG GGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGG CCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGC CCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCAGATTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTT CCTCAGATTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCTCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGAT GCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGC CTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCT TCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTC ACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCA CAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGG GGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTC GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0104 a0001c0001t0012g0104	1	207	0.0048	1989	c.715 others(2006): Show c.715-2787_715-2786insCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGC TCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGTTCACAGGGCCT GGGGGGCCTTCCTCGGGTTCAGTGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCTCACA GGGCCTGGGGGGCCTTCCTCAGATTCACCGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGAT GCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCT TCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTC ACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCA CAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGG GGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTC GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAGATTCACCGATGCCC ACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGG GGGGCCTTCCTCAGATTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCT CGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTG ATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGG GCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGC CTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGT TCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCC CACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTG GGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCC TCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGT GATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAG GGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGG CCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAGG TTCACCGATGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
SERINC2_chr1_31408213_31439678	31432146	A A	ATAGGGTG others(1982): Show ATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTA GGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTG GATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGG ATAGGGTGGACAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATA GGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAG GGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG TTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGG TGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGT GGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGG GTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGT GGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGACAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0298 a0002c0002t0001g0298	1	344	0.0029	1989	c.101 others(2006): Show c.1014-821_1014-820insTAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTG GACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGG ATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGG TGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGATAGGATGGTT AGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATA GGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAGA GGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAGAG GGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAG AGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAG GGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTA GGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTG GATAGGATGGT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SLC6A3_chr5_1387794_1450440	1414431	A A	ACTGGGTG others(1982): Show ACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGG GGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCCTGGAGG GGCAGGGCGGAGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGG GAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGG GTGGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGGCC TGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAG GGCGGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCAGGGAAGG CACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGG GGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGG CAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAA GGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGG GGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGG GGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGG AAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGT GGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGA GGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGG GGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCTGGGAGGGGCAG GGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGC GCTGGGTGGGGGGGCTGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGG GGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGG CAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAA GGCACTGGGTGGGGGGGCTGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTG GGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCTGGGA GGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAG GGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGTGCTGG GTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGA AGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGG CCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA GGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGAGAAGG CACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0035 a0001c0012t0035	a0001c0012t0035g0362 a0001c0012t0035g0362	1	315	0.0032	1989	c.115 others(2006): Show c.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCTCTGCCCTGACCCTCCAGGCCCCCCACCCAGTG CCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCC TGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGG CCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAG TGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGC CCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCC GGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCC AGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCT TCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTC CCGGCCCCCCACCCAGCACCTTCCCTGCCCTGCCCCTCCCGGCCCCCCAC CCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCC CCGCCCTGCCCCTCCCAGCCCCCCCACCCAGTGCCTTCCCCGCCCTGCCC CTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCAGCCCCC CCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCC TTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTG CCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCAGCC CCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGT GCCTTCCCCGCCCTGCCCCTCCCAGCCCCCCCACCCAGTGCCTTCCCCGC CCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCC GGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCC AGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCC GCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTC CAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCAC CCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC CCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCC TCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCC ACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTT CCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCC CCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCC CCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGCGCC TTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTG CCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCC CCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCCACCCAGT GCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTCCCCGC CCTGCCCCTCCAGGCCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCC AGGCCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCCA CCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTT CTCCGCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTCCCCGCCCTGC CCCTCCAGGCCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCC CCCCCACCCAG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
ZNF605_chr12_132913306_132961306	132954454	A A	AAGGGTGG others(1982): Show AAGGGTGGGGAGGGGAGGAAAAGGGTGGGGAGGGGGGGAGAAGGGTGGGG AGGGGAGGAGAAGGGTGGGGAGGGGGGGGAGAAGGGTGGGGAGGGGGGAG AAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGA GGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGTGTGGGGAGGGGGGGAGAA GGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAG GGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAG GGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGG GGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGT GGGGAGGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGA GGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTG GGGAGGGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGG AGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGG GGAGGGGGGGAGAAGGGTGGGGAGGGGAGGAAAAGGGTGGGGAGGGGGGG AGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGG GAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGGAGGGGGGAG AAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGAGGAGAAGGGTGGGG AGGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGGGAG AAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGG AGGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGAGGAG AAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGA GGGGGGGAGAAGGGTGGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGGAGA AGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAG GGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGG GTGGGGAGGGGGGAGAAGGGTGGGGGAGGGGAGGAGAAGGGTGGGGAGGG GGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGAGAGAAGGGG TGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGG GGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGG GGAGGGGAGGAAAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGAG GAAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGTGTGG GGAGGGGGGGAGAAGGGTGGGGAGGGGGAGAAGGGTGGGGAGGGGGGGGA GAAGGGTGGGGAGGGGGGGAGAAGTGTGGGGAGGGGGGGAGAAGGGTGGG GAGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGAGGAGA AGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAG GGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGGGGAGA AGGGTGGGGAGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGG GGAGGAGAAGTGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAG GGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGTGTGGGGAGGGG GGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGGGAGGGGGGGAGAAGTG GGTGGGGGAAGGGGGGAGGGGGAGAAGGGTGGGAGGGGGGGAGAAGGGTG GGGAAGGGGAAGGGGGGGGAGAAGGGTAGGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0104 a0001c0003t0010g0104	1	124	0.0081	1989	c.-28 others(2008): Show c.-286+1788_-286+1789insCTCCTCCCTCCCTACCCTTCTCCCCC CCCTTCCCCTTCCCCACCCTTCTCCCCCCCTCCCACCCTTCTCCCCCTCC CCCCTTCCCCCACCCACTTCTCCCCCCCTCCCCCCACCCTTCTCCCCCCT CCCCACCCTTCTCCCCCCTCCCCACACTTCTCCCCCCTCCCCACCCTTCT CCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCCTCCC CACACTTCTCCTCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTC CCCCTCCCCACCCTTCTCCCCCCCCCTCCCCACCCTTCTCCCCCCTCCCC ACCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCC CCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCCTCCCCA CCCTTCTCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACACTTCTCCCCC CCTCCCCACCCTTCTCCCCCCCCTCCCCACCCTTCTCCCCCTCCCCACCC TTCTCCCCCCCTCCCCACACTTCTCCCCCCCTCCCCACCCTTCTCCCCCC CTCCCCACCCTTTCCTCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCC TTTTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCT CCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTC TCCCCCCCTCCCCACCCCTTCTCTCCCCTCCCCACCCTTCTCCCCCCCTC CCCACCCTTCTCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCCACCCTTC TCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCTCCCCTCCC CACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCC CCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCCA CCCTTCTCCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCC CCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCCTCCCCAC CCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCCC CCCTCCCCACCCTTCTCCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCAC CCTTCTCCCCCCCTCCCCACCCTTCTCCTCCCCCTCCCCACCCTTCTCCC CCCTCCCCACCCTTCTCCCCCCTCCCCCACCCTTCTCCCCCCTCCCCACC CTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCTCCC CTCCCCACCCTTCTCCCCCCCTCCCCACCCTTTTCCTCCCCTCCCCACCC TTCTCCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCTCCC CTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTT CTCCCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCT CCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTT CTCCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTC CCCACCCTTCTCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCT CCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCC ACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCC TCCCCTCCCCACCCTTCTCCCCCCCTCCCCACACTTCTCCCCCCTCCCCA CCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCC CCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCCCTCCCCAC CCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTTTCCTC CCCTCCCCACCCT	ZNF605	ENSG00000196458.11	transcript	ENST00000360187.9	protein_coding	1/4			chr12	TogoVar
ARHGEF16_chr1_3449665_3486113	3477317	A A	ACCCACCC others(1983): Show ACCCACCCCCATCACCCCACAACCCACCCCCATCACCCCCACACTACCCA CCCCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACC CCATCACCCGCACACTACCCACCCCCATCACCCCCACACTACCCACCATC ACCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCC CACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCCAC ACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCCACACT ACCCACCCCATCACCCTCACTACCCACCCCATCACCCCCACACTACCCAC CCCATCACCCCCACACTACCCACCCCATCACCCCACACTACCCACCCCCA TCACCCCCACACGACCCACCCCCATCACCCCACACTACCCACCCCCATCA CCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCT CACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCCACACT ACCCACCCCCATCACCCCCACACGACCCACCCCCATCACCCCACACTACC CACCCCCATCACCCCACACTACCCACCCCCATCACCCCCACACTACCCAC CCCATCACCCTCACTACCCACCCCATCACCCCCACACTACCCACCCCATC ACCCCACACTACCCACCCCCATCACCCCCACACGACCCACCCCCATCACC CCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCCA CACTACCCACCCCATCACCCTCACTACCCACCCCATCACCCCCACACTAC CCACCCCATCACCCCACACTACCCACCCCCATCACCCCCACACGACCCAC CCCCATCACCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCC ATCACCCCCACACTACCCACCCCATCACCCTCACTACCCACCCCATCACC CCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCAC ACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCACAC TACCCACCCCATCACCCTCACTACCCACCCCATCACCCCCACACTACCCA CCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACCCACCCCA TCACCCGCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCA CCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCC CACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCCAC ACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCTCACTACC CACCCCATCACCCGCACACTACCCACCCCCATCACCCCCACACTACCCAC CCCATCACCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCC ATCACCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCA CCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCC CACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCCACA CTACCCACCCCCATCACCCTCACTACCCATCACCCGCACACTACCCACCC CATCACCCGCACACTACCCACCCCATCACCCGCACACTACCCAGGCCCAT CACCCCGCTACCCACCCCATCACCCCCACGCCACCCACCCCATCACCCCC ACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGC CGCCCACCCCATCACCCCCACGCCGCCCACCCCCATCACCCCCACGCCGC CCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCAC CCCATCACCCCCACGCCGCCCACCCCATCACCCCCACACTG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0052 a0002c0002t0002g0052	1	294	0.0034	1990	c.147 others(2007): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCC CACACTACCCACCCCATCACCCGCACACTACCCACCCCCATCACCCCCAC ACTACCCACCATCACCCCACACTACCCACCCCCATCACCCCACACTACCC ACCCCCATCACCCCACACTACCCACCCCCATCACCCCACACTACCCACCC CCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCA TCACCCCCACACTACCCACCCCATCACCCTCACTACCCACCCCATCACCC CCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCACA CTACCCACCCCCATCACCCCCACACGACCCACCCCCATCACCCCACACTA CCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCCACACTACCC ACCCCATCACCCTCACTACCCACCCCATCACCCCCACACTACCCACCCCA TCACCCCCACACTACCCACCCCCATCACCCCCACACGACCCACCCCCATC ACCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCC CCACACTACCCACCCCATCACCCTCACTACCCACCCCATCACCCCCACAC TACCCACCCCATCACCCCACACTACCCACCCCCATCACCCCCACACGACC CACCCCCATCACCCCACACTACCCACCCCCATCACCCCACACTACCCACC CCCATCACCCCCACACTACCCACCCCATCACCCTCACTACCCACCCCATC ACCCCCACACTACCCACCCCATCACCCCACACTACCCACCCCCATCACCC CCACACGACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCAC ACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCTCACTAC CCACCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCAC CCCATCACCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCC ATCACCCCCACACTACCCACCCCATCACCCTCACTACCCACCCCATCACC CCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTC ACTACCCACCCCATCACCCGCACACTACCCACCCCCATCACCCCCACACT ACCCACCCCATCACCCCACACTACCCACCCCCATCACCCCCACACTACCC ACCCCCATCACCCCACACTACCCACCCCCATCACCCCACACTACCCACCC CCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCAT CACCCTCACTACCCACCCCATCACCCGCACACTACCCACCCCCATCACCC CCACACTACCCACCCCATCACCCCACACTACCCACCCCCATCACCCCCAC ACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCACACTA CCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACC CACCCCATCACCCCACACTACCCACCCCCATCACCCCACACTACCCACCC CATCACCCCCACACTACCCACCCCCATCACCCTCACTACCCATCACCCGC ACACTACCCACCCCATCACCCGCACACTACCCACCCCATCACCCGCACAC TACCCAGGCCCATCACCCCGCTACCCACCCCATCACCCCCACGCCACCCA CCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCC ATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATC ACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCC CCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCAC ACTGCCCACCCC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLEC1_chr3_38034208_38129025	38084560	A A	AGTAGTGG others(1983): Show AGTAGTGGGGGGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGT AGTAGTGGTGGTGGTAGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGGGG GGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGG TGGTAGTGGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTAGTA GTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTAGTAGTAGTAGT GGTTGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAG TGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTG GTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGT GGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTTGTGGTGGTAGTAGTGG TAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGATGGTAGTAGTGGTGGTA GTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGT AGTGGTGGTAGTAGTGGTAATAGTAGTGGTGGTGGTAGTAGTAGTAGTGG TGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTTGTG GTAGTAGTAGTGGTAGTAGTAGTAGTAGTAGTAGTAGTGGTAGTAGTAGT GGTGGTGGTAGTAGTGGTGGTGGTGGTAGTGGTGGTAGTAGTGGTAATAG TAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGTGGTAGTA GTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTGGT GGTGGTAGTAGTAGTGGTGGTGGTAGTAGTAGTAGTAGTGGTGGTGGTAG TAGTAGTAGTAGTAGTGGTGGTGGTGGTAGTAGTAGTAGTAGTAGTGGTG GTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTGGTTGTGGTGGTAGTAGT GGTAGTAGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTTGTAGTAGTAG TGGTAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTA GTAGTAGTGGTGGTGGTAGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGT GGTGGTAGTAGTGGTAATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTG TGGTAGTAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTG GTGGTAGTAGTAGTGGTGGTGGTAGTAGTAGTAGTAGTGGTGGTGGTAGT AGTAGTAGTAGTAGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAG TGGTTGTGGTGGTAGTAGTAGTGGTGGTTGTAGTAGTAGTGGTAGTGGTA GTAGTAGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTGGT GGTGGTAGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAG TGGTAATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTAGTAGTG GTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGT AGTGGTGGTGGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTAGTAGTAG TAGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTGGTTGTGGTG GTAGTAGTAGTGGTGGTTGTAGTAGTAGTGGTAGTGGTAGTAGTAGTGGT GGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTAG TAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTA GTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTAGTAGTGGTAGTAGTAGT GGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGG TAGTAGTGGTGGTAGTAGCAGTGATAGTAATAGTAGTGGTG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0193 a0001c0002t0001g0193	1	158	0.0063	1990	c.126 others(2007): Show c.1261+317_1261+318insAGTGGGGGGGTGGTAGTAGTAGTGGTAG TAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTGGTAGTAGTAGTG GTAGTAGTAGTAGTGGGGGGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTG GTAGTAGTAGTAGTGGTGGTGGTAGTGGTGGTGGTAGTAGTAGTGGTAGT AGTAGTAGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGG TGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGTAGTGGTAGTAGTA GTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGT AATAGTAGTAGTGGTGGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGG TAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTG GTTGTGGTGGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGT GATGGTAGTAGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGG TAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTGGTG GTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAAT AGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTAGTAG TAGTAGTGGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTGGTAGTG GTGGTAGTAGTGGTAATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGT GGTGGTAGTAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGG TGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTA GTAGTAGTGGTGGTGGTAGTAGTAGTAGTAGTAGTGGTGGTGGTGGTAGT AGTAGTAGTAGTAGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAG TGGTTGTGGTGGTAGTAGTGGTAGTAGTAGTGGTGGTGGTGGTAGTAGTA GTGGTGGTTGTAGTAGTAGTGGTAGTGGTAGTAGTAGTGGTGGTGGTGGT GGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTAGTAGTAG TAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTGGTGGTG GTAGTAGTAGTAGTGGTTGTGGTAGTAGTGGTAGTAGTAGTGGTGGTGGT GGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTAG TAGTAGTGGTGGTGGTAGTAGTAGTAGTAGTAGTGGTGGTGGTGGTAGTG GTGGTGGTGGTAGTAGTAGTGGTTGTGGTGGTAGTAGTAGTGGTGGTTGT AGTAGTAGTGGTAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTAGTGGTGG TGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTAGTAGTAGTAGTGGTGGTG GTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTGGTGGTGGTAGTAGTAGT AGTGGTTGTGGTAGTAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAG TAGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTAGTAGTAGTGGTG GTGGTAGTAGTAGTAGTAGTAGTGGTGGTGGTGGTAGTGGTGGTGGTGGT AGTAGTAGTGGTTGTGGTGGTAGTAGTAGTGGTGGTTGTAGTAGTAGTGG TAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTA GTAGTGGTGGTGGTAGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGT GGTAGTAGTGGTAATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGG TAGTAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTG GTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGCAGTGATAGTAAT AGTAGTGGTGGT	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	7/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
FOXRED1_chr11_126264154_126283126	126276308	T T	TGTGTGTG others(1983): Show TGTGTGTGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGGT GTGTGTGTGTATGTATGGGTTGGGGAGAGTGTGTATGTGTGTGTGTATGG GGTTGGGGAAGGTGTGTGTGTGTGTGTGTGGGGTTGGGGAGAGTGTGTAT GTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGGTGTGTGTGT AGGGTTGGGGAAAGTGTATGTGTGTGTGTATGGGGTTGGGGAGGGTGTGT GTGTGTGTGTGTATGGGGTTGGGGAAGGTGTGTGTGTGTGTGTATGGGGT TGGGGAGAGTGTGTATGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTG TGTGTGTGGTGTGTGTGTAGGGTTGGGGAAAGTGTATGTGTGTGTGTATG GGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTATG GGGTTGAGGAGGGTGTGTGTGTATGGGGTCGGGGAGGGTGTGTGTGTGTG TATGGGGTTGGGGAGAGTGGGGGTGTGTGTGTGTGTGTATGGGGTTGGGG AGAGTGGGGGTGTGTGTGTGTGTGTGTATGTGGGGTTGAGGAGGGTGTGT GTGTGGGGACAGGGTTGGGGAGGGTGTGTGTGTGTGGGGTTAGGGAGGGT GTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGTATGT GTGTATGGGGTTGGGGAGGGTGTGTGTGTGGGGTTGGGGAGGGGTTGTGT GTGTGTTTATGGGGTTGGAGAGGGTGTGTGTGTATGGGGTTGGGGAGGGA GGGTGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTAGGGGGT TGGGGAGGGTGTGTGTGTGTGGGTATAGGGTTGGGAAGGGTGTGTGTGTG TGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGATGGTGTG TGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTATGGGGTTGGGG AGGGGGTGTGTGTGTGTATGGGGTTGGGGAGGGGGTGTGTGTGTGTGTGT GTGGACGGGGTTGGGGAGGGTTGCCGGCCATGCTGTTCCTGCAGTTCATA ACTGCATTAGGGGTGTGTGTGTGTGCTGGGTTGGGTAGTGTATGTGGGGG GGTTGGGGAGGGGGTGTGTGTGTGTGTGTGCTGGGTTGGGGAAAGTGTAT GTGGGGGGGTTGGGGAGGGGGTGTGTGTGTGTGCTGGGTTGGGGAGAGTG TATGTGGGGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGCATGTGTATGGG GTTGGGGAGGGTGTGTGTGTGTGTGTGCTGGGTTGGGGAGAGTGTATGTG GGGGGGTTGGGGAGTGTGTGTGTGTGTGTGTGTGCATGTGTATGGGGTTG GGGAGGGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTG GGGACGGGGTTGGGGTGGGTGTGTGTGTGTGTGTATGGGGTTGGGGAGGT GTGTGTATGTATGTATGGGGTTGGGGAAGGTGTGTGTATGGTGTGTGTGT GTATGGGATTGGGGAGGGGGTGTGTGTGTGTGTGTATGGGGTCAGGGAGG GTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGTGTGTGTATGGGGT TGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGCGTATG GGGTTGGGGAGGGTGTGTGTGTGGGGGGACAGGGTTGGGGAGGGTGTGTG GGGGTGGGAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGG ACGGGGTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGG GTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTGGG GGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGG GGAGGGTGTGTGGGGGTGCGGGGTAGACAGGGTTGGGGAGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0177 a0001c0001t0009g0177	1	4	0.2500	1990	c.972 others(2003): Show c.972-78_972-77insTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGT GTGTGTGGTGTGTGTGTGTATGTATGGGTTGGGGAGAGTGTGTATGTGTG TGTGTATGGGGTTGGGGAAGGTGTGTGTGTGTGTGTGTGGGGTTGGGGAG AGTGTGTATGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGG TGTGTGTGTAGGGTTGGGGAAAGTGTATGTGTGTGTGTATGGGGTTGGGG AGGGTGTGTGTGTGTGTGTGTATGGGGTTGGGGAAGGTGTGTGTGTGTGT GTATGGGGTTGGGGAGAGTGTGTATGTGTGTATGGGGTTGGGGAGGGTGT GTGTGTGTGTGTGTGTGGTGTGTGTGTAGGGTTGGGGAAAGTGTATGTGT GTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGT GTGTGTATGGGGTTGAGGAGGGTGTGTGTGTATGGGGTCGGGGAGGGTGT GTGTGTGTGTATGGGGTTGGGGAGAGTGGGGGTGTGTGTGTGTGTGTATG GGGTTGGGGAGAGTGGGGGTGTGTGTGTGTGTGTGTATGTGGGGTTGAGG AGGGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGTGTGTGGGGTT AGGGAGGGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGG GGAGTATGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGGGGTTGGGGAG GGGTTGTGTGTGTGTTTATGGGGTTGGAGAGGGTGTGTGTGTATGGGGTT GGGGAGGGAGGGTGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGT GTAGGGGGTTGGGGAGGGTGTGTGTGTGTGGGTATAGGGTTGGGAAGGGT GTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGG GATGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTATG GGGTTGGGGAGGGGGTGTGTGTGTGTATGGGGTTGGGGAGGGGGTGTGTG TGTGTGTGTGTGGACGGGGTTGGGGAGGGTTGCCGGCCATGCTGTTCCTG CAGTTCATAACTGCATTAGGGGTGTGTGTGTGTGCTGGGTTGGGTAGTGT ATGTGGGGGGGTTGGGGAGGGGGTGTGTGTGTGTGTGTGCTGGGTTGGGG AAAGTGTATGTGGGGGGGTTGGGGAGGGGGTGTGTGTGTGTGCTGGGTTG GGGAGAGTGTATGTGGGGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGCAT GTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGCTGGGTTGGGGAGA GTGTATGTGGGGGGGTTGGGGAGTGTGTGTGTGTGTGTGTGTGCATGTGT ATGGGGTTGGGGAGGGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTGT GTGTGTGTGGGGACGGGGTTGGGGTGGGTGTGTGTGTGTGTGTATGGGGT TGGGGAGGTGTGTGTATGTATGTATGGGGTTGGGGAAGGTGTGTGTATGG TGTGTGTGTGTATGGGATTGGGGAGGGGGTGTGTGTGTGTGTGTATGGGG TCAGGGAGGGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGTGTGT GTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGT GTGCGTATGGGGTTGGGGAGGGTGTGTGTGTGGGGGGACAGGGTTGGGGA GGGTGTGTGGGGGTGGGAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGT CGGGGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGG TTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGT GGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTGGGGGTGGA CGGGGTTGGGGAGGGTGTGTGGGGGTGCGGGGTAGACAGGGTTGGGGAGG GTGTGTGG	FOXRED1	ENSG00000110074.12	transcript	ENST00000263578.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
FSHR_chr2_48957157_49159515	49159511	T T	TAGATATA others(1983): Show TAGATATACCAGCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTATCTT ACATTTTTATTTTTTTATTTTTATTTTTATTTTTTTTATTGTTTGCCATC TTAATTTCTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAG GGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCAT GCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCC CAATGCTATCCCTCCCCCGTCCCCCGACCCCACCACAGTCCCCAGAGTGT GATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTA TGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTG AGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTC ATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTT TCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTT GCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATA GCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTG GGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGAC TTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGT TCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAA TGATTGCCATTCTAAATGGTGTGAGATGATATCTCATAGTGGTTTTGATT TGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTT GGCTGCATAAATGTCTTCAGCAAAGTCTCAGGATACAAAATCAATGTACA AAAATCACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAAA TCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTA GGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAA ACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATGGAAGAACATTC CATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCCC AAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTT CTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAA GAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGC ATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAAC AGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAG AGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAA CCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTG CTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCC TTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTT AAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCA GGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGG CAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTC TGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACATG GGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAA TCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATC AAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02976.hp1 HG02280.hp1 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0009 a0002c0002t0002g0011 a0001c0001t0002g0009 a0002c0002t0002g0011	2	337	0.0059	1990	c.-50 others(2001): Show c.-5095_-5094insTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCC ACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCA TTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAAT TTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTG CTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCT TTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCC TATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTT TAGGTTTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTTTGTATAA GGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTT TTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTT TCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCT GAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGTA CCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTA GTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAATG CGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTC TGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTGTAAA TTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCCTACCCAT GAGCATGGAATGTTCTTCCATTTGTTTGTCTCCTCTTTTATTTCCTTGAG CAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGTT GGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCA CCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGAATGCTTG TGATTTTTGTACATTGATTTTGTATCCTGAGACTTTGCTGAAGACATTTA TGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAG AAATGCAAATCAAAACCACTATGAGATATCATCTCACACCATTTAGAATG GCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGA AATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCAT TGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCA TTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATC ATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCA CAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGG ATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAA AAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCA TCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTC TCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGG GAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGACGGGGGAGGGAT AGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCG CACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCAC ATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAG AAATTAAGATGGCAAACAATAAAAAAAATAAAAATAAAAATAAAAAAATA AAAATGTAAGATAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGCTGGT ATATCT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding		4997		chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132173041	C C	CCCCCTCT others(1983): Show CCCCCTCTCCTTCCCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCC CCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCT CCCCCTCTCCTTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCCCT CTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCC CTCTCCTTCCCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCC CTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCC CCCTCTCCTTCCCTCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCCCT CCCCCTCTCCTTCCCTCTCTCCTTCCCCCTCTCCTTCCCCCTCTCCTTCC CCCTCTCCCTCCCCCTCTCCTTCCCTCTCTCCCTCCCCATCTCCTTCCCT CTCTCCCTCTCCCCCTCTCCTTCCTCTCTCTCCCTCTCCCTCCCTCTCTC TCCCTCTCCTTCCCTCTCTCTCTCCCCTTCCCTCTCTCTCTCCCCTTCCC TCTCTCTCCCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTCCCTCTCTCTC CCTCTCCCTCCCTCTCCCTCCCTCTCCTCCCTCTCCCTCCCTCTCTCTCC CTCTCCTTCCCTCTCTCTCTCTCTCCTTCCCTCTCTCTCTCCCCTTCCCT CTCTCTCTCCCCTTCCCTCTCTCTCTCTCCCCTTCCCTCTCTCTCTCCCC CTCTCCTTCCCTCTCCCTCTCTTACCCTTTCCTTCCCTCTCCTTCCCTCT CCATCCCTCTCCCTCTCCTTCCCTCTCCTTCCCTCTCCCTCTCTCCCCCC TCCTTCCCTCTCCCTCTCTCCCCCCTCCTTCCCTCTCCCTCTCTCCCCCC TCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCC TCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCC TCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCC TCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCC TCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCC TCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCTCCCCCTCTCCCC CTCTCCCCCCCTCCCCCCCTCCCCCTCTCCCCCCCTCCCCCCTCTCCCCC TCTCCCCCCCTCCCCCCTCTCCCCCTCTCTCCCCCCCTCCCCCCTCTCCC CCTCTCCCCCCTCTCCCCCTCTCTCCCCCCCTCCCCCCTCCCCCCTCTCT CCCCCTCTCCCCCTCTCCCCCCCTCCCCCCCTCCCCCTCTCCCCCCCTCC CCCCTCTCCCTCTCTCCCCCCCTCCCCCCTCCCCCCTCTCTCCCCCTCTC CCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCCTCC TTCCCTCTCTCTCCCTCTCCCCCTCCTACCCTCTCTCTCCCTCTCCCCCT CCTTCCCTCTCTCACCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCTCCCC CTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCTCT CTCCCCCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCTCCTTCC CTCTCTCTCCCCCTCCCCCTCCTTCTCCTTCCCTCTCTCTCCCCCTCCCC CTCCTTCTCCTTTCCTCTCTCTCTCCCCCTCCCCCTCCCCCTCCTTCTCC TTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCC CCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCC CCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCTCTCTCT CTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0008 a0008	a0008c0044 a0008c0044	a0008c0044t0002 a0008c0044t0002	a0008c0044t0002g0031 a0008c0044t0002g0031	1	95	0.0105	1990	c.11 others(2011): Show c.1103+4008_*1103+4009insCCCCTCTCCTTCCCTCTCTCTCCC CCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTC CCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTC CCTCTCCTTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCTCCCCC TCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCC TCTCCTTCCCTCTCTCTCTCCCCCCCTCTCCTTCCCTCTCTCTCTCTCCC CCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTC TCCCCCTCTCCTTCCCTCTCTCCCTCCCCCTCTCCTTCCCTCTCTCCTTC CCCCTCTCCTTCCCCCTCTCCTTCCCCCTCTCCCTCCCCCTCTCCTTCCC TCTCTCCCTCCCCATCTCCTTCCCTCTCTCCCTCTCCCCCTCTCCTTCCT CTCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCC CCTTCCCTCTCTCTCTCCCCTTCCCTCTCTCTCCCCCTCTCCCTCCCTCT CTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTCCCTCTCCCTCCCTCT CCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCTCTC CTTCCCTCTCTCTCTCCCCTTCCCTCTCTCTCTCCCCTTCCCTCTCTCTC TCTCCCCTTCCCTCTCTCTCTCCCCCTCTCCTTCCCTCTCCCTCTCTTAC CCTTTCCTTCCCTCTCCTTCCCTCTCCATCCCTCTCCCTCTCCTTCCCTC TCCTTCCCTCTCCCTCTCTCCCCCCTCCTTCCCTCTCCCTCTCTCCCCCC TCCTTCCCTCTCCCTCTCTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCC TCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCC TCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCC TCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCC TCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCC TCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCC TCCTTCCCTCTCTCCCCCTCTCCCCCTCTCCCCCCCTCCCCCCCTCCCCC TCTCCCCCCCTCCCCCCTCTCCCCCTCTCCCCCCCTCCCCCCTCTCCCCC TCTCTCCCCCCCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCTC CCCCCCTCCCCCCTCCCCCCTCTCTCCCCCTCTCCCCCTCTCCCCCCCTC CCCCCCTCCCCCTCTCCCCCCCTCCCCCCTCTCCCTCTCTCCCCCCCTCC CCCCTCCCCCCTCTCTCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCC CTCCCCCCTCCCCCTCCCCCCCTCCTTCCCTCTCTCTCCCTCTCCCCCTC CTACCCTCTCTCTCCCTCTCCCCCTCCTTCCCTCTCTCACCCCCTCCCCC TCCTTCCCTCTCTCTCTCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTC CCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCCCCTCCCCC TCCTTCCCTCTCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTC TCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCTCCTTTCCTCTCTCTCTC CCCCTCCCCCTCCCCCTCCTTCTCCTTCCCTCTCTCTCTCCCCCTCCCCC TCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCC TCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTC TCCCCCTCCCCCTCCTTCTCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTC TCTCTCTCCCCCTCCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23			chr10	TogoVar
LMF1_chr16_848634_975984	954023	C C	CCACCCCA others(1983): Show CCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCC TCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCC ACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCC ACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAG CCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGT CCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCAC CCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCC TCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCC ACACAGACACCCACCCCACACCAGCGTCCTACACGTCCACACAGACACCC ACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAG CCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGT CCACACAGACACCCACCCCAAACCAGCTTCCTACACGTCCACACAGACAC CCACCCCACACCAGCGTCCTACACGTCCACACAGACACCCCAAACCAGCC TCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCC ACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCC ACCCCACACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTC CTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCAC ACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCA CACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCT ACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACAC AGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCC CAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTC CTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCAC ACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCAC CCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCC TCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCC ACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCC ACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAG CCTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGT CCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACAC CCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACC AGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCTTCCTACAC GTCCACACAGACACACACCCCAAACCAGCCTCCTACACGTCCACACAGAC ACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAG CCTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGT CCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACAC CCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACC AGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACAC GTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGAC ACCCACCCCAAACCAGCTTCCTACACGTCCACACAGACACA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	267	0.0037	1990	c.503 others(2005): Show c.503+333_503+334insTGTGTCTGTGTGGACGTGTAGGAAGCTGGT TTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTG TCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACG TGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTG GTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGG TGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGA CGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTTTGGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGTGTG TCTGTGTGGACGTGTAGGAAGCTGGTTTGGGGTGGGTGTCTGTGTGGACG TGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTG GTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGG TGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGA CGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTG GGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTG GACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAG GCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGG TGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTG TGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGG AGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGG GGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTG TGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTA GGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTT GGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTG TGGACGTGTAGGAGGCTGGTTTGGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTG GGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTG GACGTGTAGGAGGCTGGTTTGGGGTGTCTGTGTGGACGTGTAGGACGCTG GTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTGGGGTGGG TGTCTGTGTGGACATGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGA CGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGACGCTGGTGTGGGGTG GGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTG GACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAG GCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGG TGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGA CATGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTG GGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTG GACGTGTAGGAGGCTGGTTTGGGGTGTCTGTGTGGACGTGTAGGAGGCTG GTTTGGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(1983): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCT CCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGT GTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCG CACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGG GCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGA GTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCC CCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCACCTCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCACATGGGCTC CTGGCGAGTGTGCCCCCCACGCCTCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCAC CTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCACATGG GCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGA GTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCC ACGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCT GGCGAGTGTGCCCCCCACGCCTCCTCACATGGGCTCCTGGCGAGTGTGCC CCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCT CCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTG TGCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCA CCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGC CTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACAT GGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTGGCG AGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCC CGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCAC ATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTGG CGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCC CGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCT GGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCC CCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGT GTGCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACG CCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0142	1	32	0.0313	1990	c.218 others(2005): Show c.2189-97_2189-96insAGGCGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGC GCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGCAC ACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACACTCGCCAGG AGCCCATGTGAGGAGGCGCCGGGGGGGCACACTCGCCAGGAGCCCATGTG AGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGG GCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGCACACTCGCC AGGAGCCCATGTGAGGAGGCGGGGGGGCACACTCGCCAGGAGCCCATGTG AGGAGGCGCCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGG GGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGC CAGGAGCCCATGTGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGG GGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTC GCCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACACTCGCCAGGAGCC CATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCG CGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGCACA CTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGG CGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCAC ACTCGCCAGGAGCCCATGTGAGGAGGCGTGGGGGGCACACTCGCCAGGAG CCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGG AGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTGGGGG GCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCC AGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATG TGAGGAGGCGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCG GGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACAC TCGCCAGGAGCCCATGTGAGGAGGCGTGGGGGGCACACTCGCCAGGAGCC CATGTGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAG GCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTGGGGGGC ACACTCGCCAGGAGCCCATGTGAGGAGGCGTGGGGGGCACACTCGCCAGG AGCCCATGTGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGA GGAGGCGCCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGG GGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACAC TCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCG CGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCA CACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGG AGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCA CGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGCACA CTCGCCAGGAGCCCATGTGAGGAGGTGTGGGGGGCACACTCGCCAGGAGC CCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
NXN_chr17_794310_984776	952751	G G	GGGGGGGC others(1983): Show GGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACG GACGGTCACACTGTGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCC GGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGAC CAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCT GGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCAC ACTGTGGGGGGGCTGGAGTCAGACCAAGGTTGCAACCCGGCAGGTACCAC GGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAAC CCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGGGTCAGACA GACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGG CTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTC ACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGG TACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGT TGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTC AGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTG GGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGG ACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACC CGGCAGGTACCACGGACGGTCACACTGTTGGGGGGGCTGGAGTCAGACAG ACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGG CTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTC ACACTGTTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAG GTACCACGGACGGTCACACTGTTGGGGGGGCTGGAGTCAGACAGACCAAG GTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAG TCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTG TGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCAC GGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAAC CCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGGGTCAGACA GACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGG GCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGT CACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCA GGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAA GGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGG AGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTAC CACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTG GAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCA GACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGG GGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGG ACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCC GGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGAC CAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0010 a0001c0001t0027g0010	1	154	0.0065	1990	c.360 others(2009): Show c.360+26567_360+26568insACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTC TGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTC CAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTG GTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACA GTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACT CCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACC TTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACC TGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTG ACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGC CCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGT CTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGG GTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTG ACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAA CCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTAC CTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCAACAGTGT GACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAG CCCCCCCAACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGG TCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCG GGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCAACAGTGTGACCGT CCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTC TGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCC AACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCA GCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGG TCTGTCTGACTCCAGCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGG GTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTGCAACCTTGGTCTGACTC CAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTT GGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCC CACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCT GACTCCAGCCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
VCX_chrX_7838171_7849143	7844201	T T	TGGTGTGT others(1983): Show TGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA GGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG AGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGATGT GTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAG GGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0002 a0003c0019t0002	a0003c0019t0002g0004 a0003c0019t0002g0004	1	293	0.0034	1990	c.18 others(1999): Show c.185_*186insGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGT GGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGT GTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAG GAAGAGGTGATGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		59		chrX	TogoVar
COL23A1_chr5_178232618_178595393	178585563	G G	GGGGGTAA others(1984): Show GGGGGTAACACTCCACAGCCCTGGATGACGCTGGAGTAACACTCCACAGC CCTGGTTGATGCTGGGGGTAACACTCCACAGCCCTGGATGACGCTGGAGT AACACTCCACGTCCCTGGTTGATGCTGGAGTAACACTCCACAGCCCTGGT TGATGCTGGGGGTAACACTCCACAGCCCTGGTTGACGCTGGAGTAACACT CCACAGCCCTGGATGACGCTGGAGTAACACTCCACAGCCCTGGTTGATGC TGGGGGTAACACTCCACAGCCCTGGATGACGCTGGAGTAACACTCCACAG CCCTGGTTGATGCTGGGGGTAACACTCCACAGCCCTGGATGACGCTGGAG TAACACTCCACAGCCCTGGTTGATGCTGGAGTAACACTCCACGTCCCTGG TTGATGCTGGAGTAACACTCCACGTCCCTGGTTGATGCTGGGGGTAACAC TCCACAGCCCTGGATGACGCTGGGGTAACACTCCACAGCCCTGGATGACG CTGGGGTAACACTCCACAGCCCTGGATGACGCTGGGGTAACACTCCACAG CCCTGGTTGATGCTGGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGG TAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGG TTGATGCTGGGGGTAACACTCCACAGCCCTGGTTGACGCTGGAGTAACAC TCCACAGCCCTGGATGACGCTGGAGTAACACTCCACAGCCCTGGATGGCG CTGGGGTAACACTCCACAGCCCTGGTTGGCGCTGGGGTAACACTCCACAG CCCTGGTTGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGT AACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGA TGGCGCTGGGGTAACGCTCCACAGCCCTGGATGGCGCTGGGGTAACGCTC CACAGCCCTGGTTGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCT GGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCA CTGGTTGGCGCTGGGGTAATGCCCTACAGCACTGGTTGGCGCTGGGGTAA TGCCCTACAGCCCTGGTTGGCGCTGGGGTAACGCCCTACAGCCCTGGTTG GCGCTGGGGTAACGCCCTACAGCCCTGGTTGGCGCTGGGGTAACACTCCA CAGCCCTGGTTGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGG GGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCT GGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATG CCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGTTGGC GCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCTACA GCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGTTGGCGCTGGGG TAACACTCCACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGG ATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCC CTACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGTTGGCGC TGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGC CCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGTTGGCGCTGGGGTA ACACTCCACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGAT GGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCT ACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTG GGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCC TGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0093 a0005c0008t0002g0095 a0005c0008t0002g0093 a0005c0008t0002g0095	2	175	0.0114	1991	c.294 others(2008): Show c.294+4340_294+4341insAGCGCCATCCAGGGCTGTGGAGTGTTAC CCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCT GTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCG CCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGC ATTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCA GGGCTGTGGAGTGTTACCCCAGCGCCAACCAGGGCTGTGGAGTGTTACCC CAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGT GGAGTGTTACCCCAGCGCCAACCAGGGCTGTGGAGTGTTACCCCAGCGCC ATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCAT TACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGG GCTGTGGAGTGTTACCCCAGCGCCAACCAGGGCTGTGGAGTGTTACCCCA GCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTGG AGTGTTACCCCAGCGCCAACCAGGGCTGTGGAGTGTTACCCCAGCGCCAT CCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTA CCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGC GCCAACCAGGGCTGTGGAGTGTTACCCCAGCGCCAACCAGGGCTGTAGGG CGTTACCCCAGCGCCAACCAGGGCTGTAGGGCGTTACCCCAGCGCCAACC AGGGCTGTAGGGCATTACCCCAGCGCCAACCAGTGCTGTAGGGCATTACC CCAGCGCCAACCAGTGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTG TAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGC CAACCAGGGCTGTGGAGCGTTACCCCAGCGCCATCCAGGGCTGTGGAGCG TTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAG GGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCC AGCGCCAACCAGGGCTGTGGAGTGTTACCCCAGCGCCAACCAGGGCTGTG GAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACTCCAGCGTCA TCCAGGGCTGTGGAGTGTTACTCCAGCGTCAACCAGGGCTGTGGAGTGTT ACCCCCAGCATCAACCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGG GCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCC AGCATCAACCAGGGCTGTGGAGTGTTACCCCAGCGTCATCCAGGGCTGTG GAGTGTTACCCCAGCGTCATCCAGGGCTGTGGAGTGTTACCCCAGCGTCA TCCAGGGCTGTGGAGTGTTACCCCCAGCATCAACCAGGGACGTGGAGTGT TACTCCAGCATCAACCAGGGACGTGGAGTGTTACTCCAGCATCAACCAGG GCTGTGGAGTGTTACTCCAGCGTCATCCAGGGCTGTGGAGTGTTACCCCC AGCATCAACCAGGGCTGTGGAGTGTTACTCCAGCGTCATCCAGGGCTGTG GAGTGTTACCCCCAGCATCAACCAGGGCTGTGGAGTGTTACTCCAGCGTC ATCCAGGGCTGTGGAGTGTTACTCCAGCGTCAACCAGGGCTGTGGAGTGT TACCCCCAGCATCAACCAGGGCTGTGGAGTGTTACTCCAGCATCAACCAG GGACGTGGAGTGTTACTCCAGCGTCATCCAGGGCTGTGGAGTGTTACCCC CAGCATCAACCAGGGCTGTGGAGTGTTACTCCAGCGTCATCCAGGGCTGT GGAGTGTTACCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
DNAH10_chr12_123757301_123940714	123911541	C C	CTGTCCTG others(1984): Show CTGTCCTGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGTCTGTCCCA GGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGTCTGTCCTGGGGGGA CTGTCCTGGGGGGATCTGTCCTGGGGGGGTCTGTCCTGGGGGCATCCGTC CTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGATCTGTCCTGGG GGGTTTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTCTGTCCTGGAGGGGT CTGTCCTAGGGGAGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGT CCCGGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGGTCTGTCCTGGG GGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG GTCTGTCCCAGGGGATCTGTCCTTGGGGGACTGTCCTGGGGGGGTCTGTC CTGGGGGCATCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCCAG GGGGTCTGTCCTGGGGGGATCTGTCCTGGGGAGGTCTGTCCTGGGGGGTC TGTCCTGGAGGTGTCTGTCCTTGGGGGGGGTCTGTCCTGGGGGAGTCTGT CCTGGGGGGGTCTGTCCTAGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGG GGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGG AGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGTCTG TCCTGGGGGCGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCT GGGGGGGTCTGTCCTGGGGGGGAGGTCTGTCCTGGGGGAGTCTGTCCTGG GGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGCG TCTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGTC TGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCC TGGGGGAGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGG GGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGG TCTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTG TCCTGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTCTGTCCT GGGGGGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGTTCTGTCCTGGGGGG GTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTG TCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGGGTCTGT CCTGGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCC TGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGG GGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGT CTGTCCTGGGGGGGGGTCTGTCCTGGGGGGCCTGTCCTGGGGGGGGGTCT GTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTC CTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGCCTGTCCTGGG GGGGGGTCTGTCCTGGGGGAGGGTCTGTCCTGGGGGGTCTGTCCTGGGGG GGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTT GTCCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGTC CTGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTG GGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTGTCCTGGGGGTT CTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCC TGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0036 a0002c0004t0002g0036	1	127	0.0079	1991	c.101 others(2010): Show c.10134+878_10134+879insGGGTCTGTCCCGGGGGGACTGTCCTG GGGGGTCTGTCCCAGGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGT CTGTCCTGGGGGGACTGTCCTGGGGGGATCTGTCCTGGGGGGGTCTGTCC TGGGGGCATCCGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGG GGATCTGTCCTGGGGGGTTTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTC TGTCCTGGAGGGGTCTGTCCTAGGGGAGTCTGTCCTGGGGGGGGTCTGTC CTGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGG GGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGGGGG TCTGTCCTGGGGGGGTCTGTCCCAGGGGATCTGTCCTTGGGGGACTGTCC TGGGGGGGTCTGTCCTGGGGGCATCTGTCCTGGGGGGGGTCTGTCCTGGG GGGGTCTGTCCCAGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGAGGTC TGTCCTGGGGGGTCTGTCCTGGAGGTGTCTGTCCTTGGGGGGGGTCTGTC CTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTAGGGGGGTCTGTCCTGGG GGGTTTGTCCTGGGGGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGGGGG GTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGT CCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGGGGTCTGTCCTG GGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGAGGTCTGTCCTGGG GGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGT CTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTGT CCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCC TGGGGGGTCTGTCCTGGGGGAGGGTCTGTCCTGGGGGGTCTGTCCTGGGG GGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTT TGTCCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGT CCTGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCT GGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGT TCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTC CTGGGAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTG GGGGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTG GGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGG GTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGT CTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGCCTGTC CTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTG GGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGG GGGCCTGTCCTGGGGGGGGGTCTGTCCTGGGGGAGGGTCTGTCCTGGGGG GTCTGTCCTGGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCT GTCCTGGGGGGTTTGTCCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCCT GGGAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGG GGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGT CTGTCCTGGGGGTTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCC TGGGGGGTTTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGG GGGGTTTGTCCTGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911541	C C	CTGTCCTG others(1984): Show CTGTCCTGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGTCTGTCCCA GGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGTCTGTCCTGGGGGGA CTGTCCTGGGGGGATCTGTCCTGGGGGGGTCTGTCCTGGGGGCATCCGTC CTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGATCTGTCCTGGG GGGTTTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTCTGTCCTGGAGGGGT CTGTCCTAGGGGAGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGT CCCGGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGGTCTGTCCTGGG GGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG GTCTGTCCCAGGGGATCTGTCCTTGGGGGACTGTCCTGGGGGGGTCTGTC CTGGGGGCATCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCCAG GGGGTCTGTCCTGGGGGGATCTGTCCTGGGGAGGTCTGTCCTGGGGGGTC TGTCCTGGAGGTGTCTGTCCTTGGGGGGGGTCTGTCCTGGGGGAGTCTGT CCTGGGGGGGTCTGTCCTAGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGG GGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGG AGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGTCTG TCCTGGGGGCGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCT GGGGGGGTCTGTCCTGGGGGGGAGGTCTGTCCTGGGGGAGTCTGTCCTGG GGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGCG TCTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGTC TGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCC TGGGGGAGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGG GGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGGT CTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTGT CCTGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTCTGTCCTG GGGGGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGTTCTGTCCTGGGGGGG TCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTGT CCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGGGGTCTGT CCTGGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCC TGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGG GGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGT CTGTCCTGGGGGGGGGTCTGTCCTGGGGGGCCTGTCCTGGGGGGGGGTCT GTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTC CTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGCCTGTCCTGGG GGGGGGTCTGTCCTGGGGGAGGGTCTGTCCTGGGGGGTCTGTCCTGGGGG GGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTT GTCCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGTC CTGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTG GGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTGTCCTGGGGGTT CTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCC TGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0072 a0072	a0072c0091 a0072c0091	a0072c0091t0002 a0072c0091t0002	a0072c0091t0002g0001 a0072c0091t0002g0001	1	127	0.0079	1991	c.101 others(2010): Show c.10134+878_10134+879insGGGTCTGTCCCGGGGGGACTGTCCTG GGGGGTCTGTCCCAGGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGT CTGTCCTGGGGGGACTGTCCTGGGGGGATCTGTCCTGGGGGGGTCTGTCC TGGGGGCATCCGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGG GGATCTGTCCTGGGGGGTTTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTC TGTCCTGGAGGGGTCTGTCCTAGGGGAGTCTGTCCTGGGGGGGGTCTGTC CTGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGG GGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGGGGG TCTGTCCTGGGGGGGTCTGTCCCAGGGGATCTGTCCTTGGGGGACTGTCC TGGGGGGGTCTGTCCTGGGGGCATCTGTCCTGGGGGGGGTCTGTCCTGGG GGGGTCTGTCCCAGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGAGGTC TGTCCTGGGGGGTCTGTCCTGGAGGTGTCTGTCCTTGGGGGGGGTCTGTC CTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTAGGGGGGTCTGTCCTGGG GGGTTTGTCCTGGGGGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGGGGG GTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGT CCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGGGGTCTGTCCTG GGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGAGGTCTGTCCTGGG GGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGT CTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTGT CCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCC TGGGGGGTCTGTCCTGGGGGAGGGTCTGTCCTGGGGGGTCTGTCCTGGGG GGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTT GTCCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGTC CTGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTG GGGGGTCTGTCCTGGGGGGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGTT CTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCC TGGGAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGG GGGGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTG GGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGG GTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGT CTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGCCTGTC CTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTG GGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGG GGGCCTGTCCTGGGGGGGGGTCTGTCCTGGGGGAGGGTCTGTCCTGGGGG GTCTGTCCTGGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCT GTCCTGGGGGGTTTGTCCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCCT GGGAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGG GGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGT CTGTCCTGGGGGTTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCC TGGGGGGTTTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGG GGGGTTTGTCCTGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
FSHR_chr2_48957157_49159515	49159511	T T	TAGATATA others(1984): Show TAGATATACCAGCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTATCTT ACATTTTTATTTTTTTATTTTTATTTTTATTTTTTTTATTGTTTGCCATC TTAATTTCTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTA GGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCA TGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTC CCAATGCTATCCCTCCCCCGTCCCCCGACCCCACCACAGTCCCCAGAGTG TGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCT ATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACT GAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACT CATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATT TTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTT TGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTAT AGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCT GGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGA CTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTG TTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTA ATGATTGCCATTCTAAATGGTGTGAGATGATATCTCATAGTGGTTTTGAT TTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTT TGGCTGCATAAATGTCTTCAGCAAAGTCTCAGGATACAAAATCAATGTAC AAAAATCACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAA ATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCT AGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACA AACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATGGAAGAACATT CCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCC CAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTT TCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAA AGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGG CATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAA CAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACA GAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAA ACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGT GCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTC CTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGT TAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTC AGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATG GCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTT CTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACAT GGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGA ATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCAT CAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	336	0.0030	1991	c.-50 others(2002): Show c.-5095_-5094insTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCC ACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCA TTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAAT TTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTG CTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCT TTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCC TATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTT TAGGTTTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTTTGTATAA GGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTT TTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTT TCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCT GAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGTA CCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTA GTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAATG CGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTC TGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTGTAAA TTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCCTACCCAT GAGCATGGAATGTTCTTCCATTTGTTTGTCTCCTCTTTTATTTCCTTGAG CAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGTT GGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCA CCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGAATGCTTG TGATTTTTGTACATTGATTTTGTATCCTGAGACTTTGCTGAAGACATTTA TGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAG AAATGCAAATCAAAACCACTATGAGATATCATCTCACACCATTTAGAATG GCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGA AATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCAT TGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCA TTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATC ATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCA CAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGG ATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAA AAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCA TCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTC TCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGG GAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGACGGGGGAGGGAT AGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCG CACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCAC ATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAA GAAATTAAGATGGCAAACAATAAAAAAAATAAAAATAAAAATAAAAAAAT AAAAATGTAAGATAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGCTGG TATATCT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding		4997		chr2	TogoVar
FSHR_chr2_48957157_49159515	49159511	T T	TAGATATA others(1984): Show TAGATATACCAGCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTATC TTACATTTTTATTTTTTTATTTTTATTTTTATTTTTTTTATTGTTTGCCA TCTTAATTTCTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTA GGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCA TGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTC CCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTG TGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCT ATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACT GAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACT CATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATT TTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTT TGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTAT AGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCT GGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGA CTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTG TTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTA ATGATTGCCATTCTAAATGGTGTGAGATGATATCTCATAGTGGTTTTGAT TTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTT TGGCTGCATAAATGTCTTCAGCAAAGTCTCAGGATACAAAATCAATGTAC AAAAATCACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAA ATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCT AGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACA AACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATGGAAGAACATT CCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCC CAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTT TCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAA AGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGG CATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAA CAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACA GAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAA ACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGT GCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTC CTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGT TAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTC AGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATG GCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTT CTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACAT GGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGA ATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCAT CAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0019 a0003c0003t0002g0019	1	336	0.0030	1991	c.-50 others(2002): Show c.-5095_-5094insTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCC ACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCA TTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAAT TTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTG CTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCT TTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCC TATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTT TAGGTTTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTTTGTATAA GGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTT TTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTT TCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCT GAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGTA CCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTA GTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAATG CGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTC TGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTGTAAA TTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCCTACCCAT GAGCATGGAATGTTCTTCCATTTGTTTGTCTCCTCTTTTATTTCCTTGAG CAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGTT GGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCA CCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGAATGCTTG TGATTTTTGTACATTGATTTTGTATCCTGAGACTTTGCTGAAGACATTTA TGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAG AAATGCAAATCAAAACCACTATGAGATATCATCTCACACCATTTAGAATG GCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGA AATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCAT TGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCA TTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATC ATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCA CAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGG ATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAA AAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCA TCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTC TCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGG GAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGAT AGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCG CACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCAC ATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAGA AATTAAGATGGCAAACAATAAAAAAAATAAAAATAAAAATAAAAAAATAA AAATGTAAGATAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGCTGG TATATCT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding		4997		chr2	TogoVar
FSHR_chr2_48957157_49159515	49159511	T T	TAGATATA others(1984): Show TAGATATACCAGCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTATC TTACATTTTTATTTTTTTATTTTTATTTTTATTTTTTTTATTGTTTGCCA TCTTAATTTCTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTA GGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCA TGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTC CCAATGCTATCCCTCCCCCGTCCCCCGACCCCACCACAGTCCCCAGAGTG TGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCT ATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACT GAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACT CATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATT TTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTT TGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTAT AGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCT GGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGA CTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTG TTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTA ATGATTGCCATTCTAAATGGTGTGAGATGATATCTCATAGTGGTTTTGAT TTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTT TGGCTGCATAAATGTCTTCAGCAAAGTCTCAGGATACAAAATCAATGTAC AAAAATCACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCAA ATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCT AGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACA AACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATGGAAGAACATT CCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGCC CAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACTT TCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAA AGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGG CATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAA CAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACA GAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAA ACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGT GCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTC CTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGT TAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTC AGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATG GCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTT CTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACAT GGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGA ATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCAT CAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	336	0.0030	1991	c.-50 others(2002): Show c.-5095_-5094insTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCC ACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCA TTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAAT TTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTG CTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCT TTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCC TATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTT TAGGTTTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTTTGTATAA GGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTT TTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTT TCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCT GAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGTA CCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTA GTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAATG CGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTC TGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTGTAAA TTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCCTACCCAT GAGCATGGAATGTTCTTCCATTTGTTTGTCTCCTCTTTTATTTCCTTGAG CAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGTT GGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCA CCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGAATGCTTG TGATTTTTGTACATTGATTTTGTATCCTGAGACTTTGCTGAAGACATTTA TGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAG AAATGCAAATCAAAACCACTATGAGATATCATCTCACACCATTTAGAATG GCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGA AATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCAT TGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCA TTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATC ATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCA CAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGG ATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAA AAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCA TCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTC TCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGG GAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGACGGGGGAGGGAT AGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCG CACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCAC ATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAGA AATTAAGATGGCAAACAATAAAAAAAATAAAAATAAAAATAAAAAAATAA AAATGTAAGATAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGCTGG TATATCT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding		4997		chr2	TogoVar
RGS10_chr10_119494817_119547719	119547323	C C	CGCTCCGT others(1984): Show CGCTCCGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATGGTA ACCTCTGCCTCCCAGGTTCAAGCGGTTCTCCTACCTTAGCCTCCTGAGTA GCTGGGATTACAGGTGTGTGCCACCACATCCGGCTAATTTTCGTATTTTT AGTAGAGACGGGGTTTCACCATGTTGGCGAGGCTGGTCTCAAAATCCTGA CCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGT AAGCCAATGTGCCCAGCCGTCATTCATTTATTTTTGTAGAGCTGGGGTCT TGTTATGCTGCCCAGGATGGTCACAAACTCCTGACCTCCTACCTTGGCCT CCCAAAGTGCTGGGATTACAGGTGGGAGCTACAGCATCTGGTCCCTACCC ACCTCCCCTCCCCGCCCCCACTTTTTTTAAGAGTCAGGGTCTCACCGGGC ATGGTTTCTCACGCCCGTAATCCCAGCACTTTGGGAGGCTGAGGGGGGCA GATCACGAGGTCAGGAGATCAACATCATCCTGGCCAACATAGTGAAACTC CGTTTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGCACATGCCTG TAGTCCCTGGTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGA GTCGGAGATTGCAGTGAGCCGAGATCACGCCACTGCACTCCAACCTGGTG ACAGAGTGAGACTCTGTCTCAGAAAACAAAAACAAGAAGAGCCAAGGTCT CCATCTGTCATCCGGGCTAGAGTGCAGTGATACAATCATAGCTCACTGCT ACCCACTCCTGGGTAAGCCTTCATTTTTACATTAGTTTTGCTTTCTTAAA ACTCTTAATTTCCCATTGAAGGAGCAAGCAGACACTGGCTGCGTTTCCCA TCTTTGATCTCTCTTGCACTTCAAGTCCCACATTCCTGGCATATCACAGC TGGAGGGATCCTTGGAGATCAGCATATTATGCTGCAGATCAGGAAACTGA GGCTCAGACAGCCGCTGAACTTGTGTTTAGCTATGATGTGATACTAGGTT TCCCGACTCCTGGGCAGGCAGTTTTCCTGGTACAGCACTCTTTATCTGGT TTGTTTGTTTGTTTATTTGTTTGTTTGTTTGAGACAGAGTCTCGTAATGT CACCCAGGCTGGAATGCAATGATGCAGTCACAGCTTACTGCAGCCTCCAC CTCCCAGGCTCAAGCAATCCTCTCCTCCCACCTCAGCCCTCTTCAGTAGC TGGGACCACAGGTGTGCACTACCACGCCTAGCTAATTTTATTTATTTATT TATTTATTTATTTATTTATTTATTTATTGCAGAGATGGGGGTCTGTCTCC CTTTGTTGCCCAGGCTCAACTGGAATTTCTGGGTTCAAGTGATCCTCCCT CCTTAGCCTTCTAAGTAGCTGGGACTACAGGCACATGCCACTATGCATGG CTAATTTTTTTAAGTTTTTTATTATTATTATTTTTTTTTGAGACAGAGTT TCGCTCTTGTTGCCCAGGCTGGAGTGCTGCAATGGTGCAATCTCGGCCCA TTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCC GAGTAGCTGGGATTACAGGCATGCGGCACCACGCCTGGCTAATTTTGTAT TTTTTAGTAAAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACT CCCGACCTCAGGTGATCCGTCCTCCTAGGCCTCCCAAAGGGTTGGGATTA TAGGCTTGAGCCACCACGTCTAGCTGGCTAGGTTTTTTTAATACAATTTT TTTTAAAGTAAACTTTATTATATTATTATTTTATTTTTATTTTTTTGAGA CCAAGTCTCACTCTGTCGCCAGGCTGGAATGCAGTGGCACAATCTTGGCT TACTGCAACCTCCATCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGTTGCGTGCCACCACACCTGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0318 a0001c0001t0003g0318	1	4	0.2500	1991	c.-46 others(2002): Show c.-4686_-4685insAGCCAGGTGTGGTGGCACGCAACTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGGGAATTGCTTGAACCTGGGAGATGGAGG TTGCAGTAAGCCAAGATTGTGCCACTGCATTCCAGCCTGGCGACAGAGTG AGACTTGGTCTCAAAAAAATAAAAATAAAATAATAATATAATAAAGTTTA CTTTAAAAAAAATTGTATTAAAAAAACCTAGCCAGCTAGACGTGGTGGCT CAAGCCTATAATCCCAACCCTTTGGGAGGCCTAGGAGGACGGATCACCTG AGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTTT ACTAAAAAATACAAAATTAGCCAGGCGTGGTGCCGCATGCCTGTAATCCC AGCTACTCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCAGA GGTTGCAATGGGCCGAGATTGCACCATTGCAGCACTCCAGCCTGGGCAAC AAGAGCGAAACTCTGTCTCAAAAAAAAATAATAATAATAAAAAACTTAAA AAAATTAGCCATGCATAGTGGCATGTGCCTGTAGTCCCAGCTACTTAGAA GGCTAAGGAGGGAGGATCACTTGAACCCAGAAATTCCAGTTGAGCCTGGG CAACAAAGGGAGACAGACCCCCATCTCTGCAATAAATAAATAAATAAATA AATAAATAAATAAATAAATAAAATTAGCTAGGCGTGGTAGTGCACACCTG TGGTCCCAGCTACTGAAGAGGGCTGAGGTGGGAGGAGAGGATTGCTTGAG CCTGGGAGGTGGAGGCTGCAGTAAGCTGTGACTGCATCATTGCATTCCAG CCTGGGTGACATTACGAGACTCTGTCTCAAACAAACAAACAAATAAACAA ACAAACAAACCAGATAAAGAGTGCTGTACCAGGAAAACTGCCTGCCCAGG AGTCGGGAAACCTAGTATCACATCATAGCTAAACACAAGTTCAGCGGCTG TCTGAGCCTCAGTTTCCTGATCTGCAGCATAATATGCTGATCTCCAAGGA TCCCTCCAGCTGTGATATGCCAGGAATGTGGGACTTGAAGTGCAAGAGAG ATCAAAGATGGGAAACGCAGCCAGTGTCTGCTTGCTCCTTCAATGGGAAA TTAAGAGTTTTAAGAAAGCAAAACTAATGTAAAAATGAAGGCTTACCCAG GAGTGGGTAGCAGTGAGCTATGATTGTATCACTGCACTCTAGCCCGGATG ACAGATGGAGACCTTGGCTCTTCTTGTTTTTGTTTTCTGAGACAGAGTCT CACTCTGTCACCAGGTTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAA TCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGACC AGGGACTACAGGCATGTGCCACCACGCCCAGCTGATTTTTGTATTTTTAG TAGAAACGGAGTTTCACTATGTTGGCCAGGATGATGTTGATCTCCTGACC TCGTGATCTGCCCCCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGA GAAACCATGCCCGGTGAGACCCTGACTCTTAAAAAAAGTGGGGGCGGGGA GGGGAGGTGGGTAGGGACCAGATGCTGTAGCTCCCACCTGTAATCCCAGC ACTTTGGGAGGCCAAGGTAGGAGGTCAGGAGTTTGTGACCATCCTGGGCA GCATAACAAGACCCCAGCTCTACAAAAATAAATGAATGACGGCTGGGCAC ATTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGA TCACGAGGTCAGGATTTTGAGACCAGCCTCGCCAACATGGTGAAACCCCG TCTCTACTAAAAATACGAAAATTAGCCGGATGTGGTGGCACACACCTGTA ATCCCAGCTACTCAGGAGGCTAAGGTAGGAGAACCGCTTGAACCTGGGAG GCAGAGGTTACCATGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGGG ACGGAGC	RGS10	ENSG00000148908.15	transcript	ENST00000369103.3	protein_coding		4605		chr10	TogoVar
RGS10_chr10_119494817_119547719	119547323	C C	CGCTCCGT others(1984): Show CGCTCCGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATGGTA ACCTCTGCCTCCCAGGTTCAAGCGGTTCTCCTACCTTAGCCTCCTGAGTA GCTGGGATTACAGGTGTGTGCCACCACATCCGGCTAATTTTCGTATTTTT AGTAGAGACGGGGTTTCACCATGTTGGCGAGGCTGGTCTCAAAATCCTGA CCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGT AAGCCAATGTGCCCAGCCGTCATTCATTTATTTTTGTAGAGCTGGGGTCT TGTTATGCTGCCCAGGATGGTCACAAACTCCTGACCTCCTACCTTGGCCT CCCAAAGTGCTGGGATTACAGGTGGGAGCTACAGCATCTGGTCCCTACCC ACCTCCCCTCCCCGCCCCCACTTTTTTTAAGAGTCAGGGTCTCACCGGGC ATGGTTTCTCACGCCCGTAATCCCAGCACTTTGGGAGGCTGAGGGGGGCA GATCACGAGGTCAGGAGATCAACATCATCCTGGCCAACATAGTGAAACTC CGTTTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGCACATGCCTG TAGTCCCTGGTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGA GTCGGAGATTGCAGTGAGCCGAGATCACGCCACTGCACTCCAACCTGGTG ACAGAGTGAGACTCTGTCTCAGAAAACAAAAACAAGAAGAGCCAAGGTCT CCATCTGTCATCCGGGCTAGAGTGCAGTGGTACAATCATAGCTCACTGCT ACCCACTCCTGGGTAAGCCTTCATTTTTACATTAGTTTTGCTTTCTTAAA ACTCTTAATTTCCCATTGAAGGAGCAAGCAGACACTGGCTGCGTTTCCCA TCTTTGATCTCTCTTGCACTTCAAGTCCCACATTCCTGGCATATCACAGC TGGAGGGATCCTTGGAGATCAGCATATTATGCTGCAGATCAGGAAACTGA GGCTCAGACAGCCGCTGAACTTGTGTTTAGCTATGATGTGATACTAGGTT TCCCGACTCCTGGGCAGGCAGTTTTCCTGGTACAGCACTCTTTATCTGGT TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGAGACAGAGTCTCGTAATGT CACCCAGGCTGGAATGCAATGATGCAGTCACAGCTTACTGCAGCCTCCAC CTCCCAGGCTCAAGCAATCCTCTCCTCCCACCTCAGCCCTCTTCAGTAGC TGGGACCACAGGTGTGCACTACCACGCCTAGCTAATTTTATTTATTTATT TATTTATTTATTTATTTATTTATTTATTGCAGAGATGGGGGTCTGTCTCC CTTTGTTGCCCAGGCTCAACTGGAATTTCTGGGTTCAAGTGATCCTCCCT CCTTAGCCTTCTAAGTAGCTGGGACTACAGGCACATGCCACTATGCATGG CTAATTTTTTTAAGTTTTTTATTATTATTATTTTTTTTTGAGACAGAGTT TCGCTCTTGTTGCCCAGGCTGGAGTGCTGCAATGGTGCAATCTCGGCCCA TTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCC GAGTAGCTGGGATTACAGGCATGCGGCACCACGCCTGGCTAATTTTGTAT TTTTTAGTAAAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACT CCCGACCTCAGGTGATCCGTCCTCCTAGGCCTCCCAAAGGGTTGGGATTA TAGGCTTGAGCCACCACGTCTAGCTGGCTAGGTTTTTTTAATACAATTTT TTTTAAAGTAAACTTTATTATATTATTATTTTATTTTTATTTTTTTGAGA CCAAGTCTCACTCTGTCGCCAGGCTGGAATGCAGTGGCACAATCTTGGCT TACTGCAACCTCCATCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGTTGCGTGCCACCACACCTGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03516.hp2 NA20129.hp1 HG03139.hp2 HG03516.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0151 a0001c0001t0001g0293 a0001c0001t0001g0137 a0001c0001t0001g0151 a0001c0001t0001g0293	3	6	0.5000	1991	c.-46 others(2002): Show c.-4686_-4685insAGCCAGGTGTGGTGGCACGCAACTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGGGAATTGCTTGAACCTGGGAGATGGAGG TTGCAGTAAGCCAAGATTGTGCCACTGCATTCCAGCCTGGCGACAGAGTG AGACTTGGTCTCAAAAAAATAAAAATAAAATAATAATATAATAAAGTTTA CTTTAAAAAAAATTGTATTAAAAAAACCTAGCCAGCTAGACGTGGTGGCT CAAGCCTATAATCCCAACCCTTTGGGAGGCCTAGGAGGACGGATCACCTG AGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTTT ACTAAAAAATACAAAATTAGCCAGGCGTGGTGCCGCATGCCTGTAATCCC AGCTACTCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCAGA GGTTGCAATGGGCCGAGATTGCACCATTGCAGCACTCCAGCCTGGGCAAC AAGAGCGAAACTCTGTCTCAAAAAAAAATAATAATAATAAAAAACTTAAA AAAATTAGCCATGCATAGTGGCATGTGCCTGTAGTCCCAGCTACTTAGAA GGCTAAGGAGGGAGGATCACTTGAACCCAGAAATTCCAGTTGAGCCTGGG CAACAAAGGGAGACAGACCCCCATCTCTGCAATAAATAAATAAATAAATA AATAAATAAATAAATAAATAAAATTAGCTAGGCGTGGTAGTGCACACCTG TGGTCCCAGCTACTGAAGAGGGCTGAGGTGGGAGGAGAGGATTGCTTGAG CCTGGGAGGTGGAGGCTGCAGTAAGCTGTGACTGCATCATTGCATTCCAG CCTGGGTGACATTACGAGACTCTGTCTCAAACAAACAAACAAACAAACAA ACAAACAAACCAGATAAAGAGTGCTGTACCAGGAAAACTGCCTGCCCAGG AGTCGGGAAACCTAGTATCACATCATAGCTAAACACAAGTTCAGCGGCTG TCTGAGCCTCAGTTTCCTGATCTGCAGCATAATATGCTGATCTCCAAGGA TCCCTCCAGCTGTGATATGCCAGGAATGTGGGACTTGAAGTGCAAGAGAG ATCAAAGATGGGAAACGCAGCCAGTGTCTGCTTGCTCCTTCAATGGGAAA TTAAGAGTTTTAAGAAAGCAAAACTAATGTAAAAATGAAGGCTTACCCAG GAGTGGGTAGCAGTGAGCTATGATTGTACCACTGCACTCTAGCCCGGATG ACAGATGGAGACCTTGGCTCTTCTTGTTTTTGTTTTCTGAGACAGAGTCT CACTCTGTCACCAGGTTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAA TCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGACC AGGGACTACAGGCATGTGCCACCACGCCCAGCTGATTTTTGTATTTTTAG TAGAAACGGAGTTTCACTATGTTGGCCAGGATGATGTTGATCTCCTGACC TCGTGATCTGCCCCCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGA GAAACCATGCCCGGTGAGACCCTGACTCTTAAAAAAAGTGGGGGCGGGGA GGGGAGGTGGGTAGGGACCAGATGCTGTAGCTCCCACCTGTAATCCCAGC ACTTTGGGAGGCCAAGGTAGGAGGTCAGGAGTTTGTGACCATCCTGGGCA GCATAACAAGACCCCAGCTCTACAAAAATAAATGAATGACGGCTGGGCAC ATTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGA TCACGAGGTCAGGATTTTGAGACCAGCCTCGCCAACATGGTGAAACCCCG TCTCTACTAAAAATACGAAAATTAGCCGGATGTGGTGGCACACACCTGTA ATCCCAGCTACTCAGGAGGCTAAGGTAGGAGAACCGCTTGAACCTGGGAG GCAGAGGTTACCATGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGGG ACGGAGC	RGS10	ENSG00000148908.15	transcript	ENST00000369103.3	protein_coding		4605		chr10	TogoVar
RGS10_chr10_119494817_119547719	119547323	C C	CGCTCCGT others(1984): Show CGCTCCGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATGGTA ACCTCTGCCTCCCAGGTTCAAGCGGTTCTCCTACCTTAGCCTCCTGAGTA GCTGGGATTACAGGTGTGTGCCACCACATCCGGCTAATTTTCGTATTTTT AGTAGAGACGGGGTTTCACCATGTTGGCGAGGCTGGTCTCAAAATCCTGA CCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGT AAGCCAATGTGCCCAGCCGTCATTCATTTATTTTTGTAGAGCTGGGGTCT TGTTATGCTGCCCAGGATGGTCACAAACTCCTGACCTCCTACCTTGGCCT CCCAAAGTGCTGGGATTACAGGTGGGAGCTACAGCATCTGGTCCCTACCC ACCTCCCCTCCCCGCCCCCACTTTTTTTAAGAGTCAGGGTCTCACCGGGC ATGGTTTCTCACGCCCGTAATCCCAGCACTTTGGGAGGCTGAGGGGGGCA GATCACGAGGTCAGGAGATCAACATCATCCTGGCCAACATAGTGAATCTC CGTTTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGCACATGCCTG TAGTCCCTGGTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGA GTCGGAGATTGCAGTGAGCCGAGATCACGCCACTGCACTCCAACCTGGTG ACAGAGTGAGACTCTGTCTCAGAAAACAAAAACAAGAAGAGCCAAGGTCT CCATCTGTCATCCGGGCTAGAGTGCAGTGGTACAATCATAGCTCACTGCT ACCCACTCCTGGGTAAGCCTTCATTTTTACATTAGTTTTGCTTTCTTAAA ACTCTTAATTTCCCATTGAAGGAGCAAGCAGACACTGGCTGCGTTTCCCA TCTTTGATCTCTCTTGCACTTCAAGTCCCACATTCCTGGCATATCACAGC TGGAGGGATCCTTGGAGATCAGCATATTATGCTGCAGATCAGGAAACTGA GGCTCAGACAGCCGCTGAACTTGTGTTTAGCTATGATGTGATACTAGGTT TCCCGACTCCTGGGCAGGCAGTTTTCCTGGTACAGCACTCTTTATCTGGT TTGTTTGTTTGTTTATTTGTTTGTTTGTTTGAGACAGAGTCTCGTAATGT CACCCAGGCTGGAATGCAATGATGCAGTCACAGCTTACTGCAGCCTCCAC CTCCCAGGCTCAAGCAATCCTCTCCTCCCACCTCAGCCCTCTTCAGTAGC TGGGACCACAGGTGTGCACTACCACGCCTAGCTAATTTTATTTATTTATT TATTTATTTATTTATTTATTTATTTATTGCAGAGATGGGGGTCTGTCTCC CTTTGTTGCCCAGGCTCAACTGGAATTTCTGGGTTCAAGTGATCCTCCCT CCTTAGCCTTCTAAGTAGCTGGGACTACAGGCACATGCCACTATGCATGG CTAATTTTTTTAAGTTTTTTATTATTATTATTTTTTTTTGAGACAGAGTT TCGCTCTTGTTGCCCAGGCTGGAGTGCTGCAATGGTGCAATCTCGGCCCA TCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCC GAGTAGCTGGGATTACAGGCATGCGGCACCACGCCTGGCTAATTTTGTAT TTTTTAGTAAAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACT CCCGACCTCAGGTGATCCGTCCTCCTAGGCCTCCCAAAGGGTTGGGATTA TAGGCTTGAGCCACCACGTCTAGCTGGCTAGGTTTTTTTAATACAATTTT TTTTAAAGTAAACTTTATTATATTATTATTTTATTTTTATTTTTTTGAGA CCAAGTCTCACTCTGTCGCCAGGCTGGAATGCAGTGGCACAATCTTGGCT TACTGCAACCTCCATCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGTTGCGTGCCACCACACCTGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	4	0.2500	1991	c.-46 others(2002): Show c.-4686_-4685insAGCCAGGTGTGGTGGCACGCAACTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGGGAATTGCTTGAACCTGGGAGATGGAGG TTGCAGTAAGCCAAGATTGTGCCACTGCATTCCAGCCTGGCGACAGAGTG AGACTTGGTCTCAAAAAAATAAAAATAAAATAATAATATAATAAAGTTTA CTTTAAAAAAAATTGTATTAAAAAAACCTAGCCAGCTAGACGTGGTGGCT CAAGCCTATAATCCCAACCCTTTGGGAGGCCTAGGAGGACGGATCACCTG AGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTTT ACTAAAAAATACAAAATTAGCCAGGCGTGGTGCCGCATGCCTGTAATCCC AGCTACTCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCAGA GGTTGCGATGGGCCGAGATTGCACCATTGCAGCACTCCAGCCTGGGCAAC AAGAGCGAAACTCTGTCTCAAAAAAAAATAATAATAATAAAAAACTTAAA AAAATTAGCCATGCATAGTGGCATGTGCCTGTAGTCCCAGCTACTTAGAA GGCTAAGGAGGGAGGATCACTTGAACCCAGAAATTCCAGTTGAGCCTGGG CAACAAAGGGAGACAGACCCCCATCTCTGCAATAAATAAATAAATAAATA AATAAATAAATAAATAAATAAAATTAGCTAGGCGTGGTAGTGCACACCTG TGGTCCCAGCTACTGAAGAGGGCTGAGGTGGGAGGAGAGGATTGCTTGAG CCTGGGAGGTGGAGGCTGCAGTAAGCTGTGACTGCATCATTGCATTCCAG CCTGGGTGACATTACGAGACTCTGTCTCAAACAAACAAACAAATAAACAA ACAAACAAACCAGATAAAGAGTGCTGTACCAGGAAAACTGCCTGCCCAGG AGTCGGGAAACCTAGTATCACATCATAGCTAAACACAAGTTCAGCGGCTG TCTGAGCCTCAGTTTCCTGATCTGCAGCATAATATGCTGATCTCCAAGGA TCCCTCCAGCTGTGATATGCCAGGAATGTGGGACTTGAAGTGCAAGAGAG ATCAAAGATGGGAAACGCAGCCAGTGTCTGCTTGCTCCTTCAATGGGAAA TTAAGAGTTTTAAGAAAGCAAAACTAATGTAAAAATGAAGGCTTACCCAG GAGTGGGTAGCAGTGAGCTATGATTGTACCACTGCACTCTAGCCCGGATG ACAGATGGAGACCTTGGCTCTTCTTGTTTTTGTTTTCTGAGACAGAGTCT CACTCTGTCACCAGGTTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAA TCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGACC AGGGACTACAGGCATGTGCCACCACGCCCAGCTGATTTTTGTATTTTTAG TAGAAACGGAGATTCACTATGTTGGCCAGGATGATGTTGATCTCCTGACC TCGTGATCTGCCCCCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGA GAAACCATGCCCGGTGAGACCCTGACTCTTAAAAAAAGTGGGGGCGGGGA GGGGAGGTGGGTAGGGACCAGATGCTGTAGCTCCCACCTGTAATCCCAGC ACTTTGGGAGGCCAAGGTAGGAGGTCAGGAGTTTGTGACCATCCTGGGCA GCATAACAAGACCCCAGCTCTACAAAAATAAATGAATGACGGCTGGGCAC ATTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGA TCACGAGGTCAGGATTTTGAGACCAGCCTCGCCAACATGGTGAAACCCCG TCTCTACTAAAAATACGAAAATTAGCCGGATGTGGTGGCACACACCTGTA ATCCCAGCTACTCAGGAGGCTAAGGTAGGAGAACCGCTTGAACCTGGGAG GCAGAGGTTACCATGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGGG ACGGAGC	RGS10	ENSG00000148908.15	transcript	ENST00000369103.3	protein_coding		4605		chr10	TogoVar
RGS10_chr10_119494817_119547719	119547323	C C	CGCTCCGT others(1984): Show CGCTCCGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATGGTA ACCTCTGCCTCCCAGGTTCAAGCGGTTCTCCTACCTTAGCCTCCTGAGTA GCTGGGATTACAGGTGTGTGCCACCACATCCGGCTAATTTTCGTATTTTT AGTAGAGACGGGGTTTCACCATGTTGGCGAGGCTGGTCTCAAAATCCTGA CCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGT AAGCCAATGTGCCCAGCCGTCATTCATTTATTTTTGTAGAGCTGGGGTCT TGTTATGCTGCCCAGGATGGTCACAAACTCCTGACCTCCTACCTTGGCCT CCCAAAGTGCTGGGATTACAGGTGGGAGCTACAGCATCTGGTCCCTACCC ACCTCCCCTCCCCGCCCCCACTTTTTTTAAGAGTCAGGGTCTCACCGGGC ATGGTTTCTCACGCCCGTAATCCCAGCACTTTGGGAGGCTGAGGGGGGCA GATCACGAGGTCAGGAGATCAACATCATCCTGGCCAACATAGTGAATCTC CGTTTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGCACATGCCTG TAGTCCCTGGTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGA GTCGGAGATTGCAGTGAGCCGAGATCACGCCACTGCACTCCAACCTGGTG ACAGAGTGAGACTCTGTCTCAGAAAACAAAAACAAGAAGAGCCAAGGTCT CCATCTGTCATCCGGGCTAGAGTGCAGTGGTACAATCATAGCTCACTGCT ACCCACTCCTGGGTAAGCCTTCATTTTTACATTAGTTTTGCTTTCTTAAA ACTCTTAATTTCCCATTGAAGGAGCAAGCAGACACTGGCTGCGTTTCCCA TCTTTGATCTCTCTTGCACTTCAAGTCCCACATTCCTGGCATATCACAGC TGGAGGGATCCTTGGAGATCAGCATATTATGCTGCAGATCAGGAAACTGA GGCTCAGACAGCCGCTGAACTTGTGTTTAGCTATGATGTGATACTAGGTT TCCCGACTCCTGGGCAGGCAGTTTTCCTGGTACAGCACTCTTTATCTGGT TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGAGACAGAGTCTCGTAATGT CACCCAGGCTGGAATGCAATGATGCAGTCACAGCTTACTGCAGCCTCCAC CTCCCAGGCTCAAGCAATCCTCTCCTCCCACCTCAGCCCTCTTCAGTAGC TGGGACCACAGGTGTGCACTACCACGCCTAGCTAATTTTATTTATTTATT TATTTATTTATTTATTTATTTATTTATTGCAGAGATGGGGGTCTGTCTCC CTTTGTTGCCCAGGCTCAACTGGAATTTCTGGGTTCAAGTGATCCTCCCT CCTTAGCCTTCTAAGTAGCTGGGACTACAGGCACATGCCACTATGCATGG CTAATTTTTTTAAGTTTTTTATTATTATTATTTTTTTTTGAGACAGAGTT TCGCTCTTGTTGCCCAGGCTGGAGTGCTGCAATGGTGCAATCTCGGCCCA TTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCC GAGTAGCTGGGATTACAGGCATGCGGCACCACGCCTGGCTAATTTTGTAT TTTTTAGTAAAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACT CCCGACCTCAGGTGATCCGTCCTCCTAGGCCTCCCAAAGGGTTGGGATTA TAGGCTTGAGCCACCACGTCTAGCTGGCTAGGTTTTTTTAATACAATTTT TTTTAAAGTAAACTTTATTATATTATTATTTTATTTTTATTTTTTTGAGA CCAAGTCTCACTCTGTCGCCAGGCTGGAATGCAGTGGCACAATCTTGGCT TACTGCAACCTCCATCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGTTGCGTGCCACCACACCTGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01192.hp1 HG01261.hp2 others(4): Show HG00741.hp1 HG01192.hp1 HG01261.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0001t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0044 a0001c0001t0001g0114 a0001c0001t0001g0115 others(4): Show a0001c0001t0001g0044 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0006g0106 a0001c0002t0001g0002 a0001c0002t0001g0043 a0001c0002t0001g0049	7	10	0.7000	1991	c.-46 others(2002): Show c.-4686_-4685insAGCCAGGTGTGGTGGCACGCAACTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGGGAATTGCTTGAACCTGGGAGATGGAGG TTGCAGTAAGCCAAGATTGTGCCACTGCATTCCAGCCTGGCGACAGAGTG AGACTTGGTCTCAAAAAAATAAAAATAAAATAATAATATAATAAAGTTTA CTTTAAAAAAAATTGTATTAAAAAAACCTAGCCAGCTAGACGTGGTGGCT CAAGCCTATAATCCCAACCCTTTGGGAGGCCTAGGAGGACGGATCACCTG AGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTTT ACTAAAAAATACAAAATTAGCCAGGCGTGGTGCCGCATGCCTGTAATCCC AGCTACTCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCAGA GGTTGCAATGGGCCGAGATTGCACCATTGCAGCACTCCAGCCTGGGCAAC AAGAGCGAAACTCTGTCTCAAAAAAAAATAATAATAATAAAAAACTTAAA AAAATTAGCCATGCATAGTGGCATGTGCCTGTAGTCCCAGCTACTTAGAA GGCTAAGGAGGGAGGATCACTTGAACCCAGAAATTCCAGTTGAGCCTGGG CAACAAAGGGAGACAGACCCCCATCTCTGCAATAAATAAATAAATAAATA AATAAATAAATAAATAAATAAAATTAGCTAGGCGTGGTAGTGCACACCTG TGGTCCCAGCTACTGAAGAGGGCTGAGGTGGGAGGAGAGGATTGCTTGAG CCTGGGAGGTGGAGGCTGCAGTAAGCTGTGACTGCATCATTGCATTCCAG CCTGGGTGACATTACGAGACTCTGTCTCAAACAAACAAACAAACAAACAA ACAAACAAACCAGATAAAGAGTGCTGTACCAGGAAAACTGCCTGCCCAGG AGTCGGGAAACCTAGTATCACATCATAGCTAAACACAAGTTCAGCGGCTG TCTGAGCCTCAGTTTCCTGATCTGCAGCATAATATGCTGATCTCCAAGGA TCCCTCCAGCTGTGATATGCCAGGAATGTGGGACTTGAAGTGCAAGAGAG ATCAAAGATGGGAAACGCAGCCAGTGTCTGCTTGCTCCTTCAATGGGAAA TTAAGAGTTTTAAGAAAGCAAAACTAATGTAAAAATGAAGGCTTACCCAG GAGTGGGTAGCAGTGAGCTATGATTGTACCACTGCACTCTAGCCCGGATG ACAGATGGAGACCTTGGCTCTTCTTGTTTTTGTTTTCTGAGACAGAGTCT CACTCTGTCACCAGGTTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAA TCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGACC AGGGACTACAGGCATGTGCCACCACGCCCAGCTGATTTTTGTATTTTTAG TAGAAACGGAGATTCACTATGTTGGCCAGGATGATGTTGATCTCCTGACC TCGTGATCTGCCCCCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGA GAAACCATGCCCGGTGAGACCCTGACTCTTAAAAAAAGTGGGGGCGGGGA GGGGAGGTGGGTAGGGACCAGATGCTGTAGCTCCCACCTGTAATCCCAGC ACTTTGGGAGGCCAAGGTAGGAGGTCAGGAGTTTGTGACCATCCTGGGCA GCATAACAAGACCCCAGCTCTACAAAAATAAATGAATGACGGCTGGGCAC ATTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGA TCACGAGGTCAGGATTTTGAGACCAGCCTCGCCAACATGGTGAAACCCCG TCTCTACTAAAAATACGAAAATTAGCCGGATGTGGTGGCACACACCTGTA ATCCCAGCTACTCAGGAGGCTAAGGTAGGAGAACCGCTTGAACCTGGGAG GCAGAGGTTACCATGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGGG ACGGAGC	RGS10	ENSG00000148908.15	transcript	ENST00000369103.3	protein_coding		4605		chr10	TogoVar
RGS10_chr10_119494817_119547719	119547323	C C	CGCTCCGT others(1984): Show CGCTCCGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATGGTA ACCTCTGCCTCCCAGGTTCAAGCGGTTCTCCTACCTTAGCCTCCTGAGTA GCTGGGATTACAGGTGTGTGCCACCACATCCGGCTAATTTTCGTATTTTT AGTAGAGACGGGGTTTCACCATGTTGGCGAGGCTGGTCTCAAAATCCTGA CCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGT AAGCCAATGTGCCCAGCCGTCATTCATTTATTTTTGTAGAGCTGGGGTCT TGTTATGCTGCCCAGGATGGTCACAAACTCCTGACCTCCTGACCAAGGTC ACAAACACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCTACAG CATCTGGTCCCTACCCACCTCCCCTCCCCGCCCCCACTTTTTTTAAGAGT CAGGGTCTCACCGGGCATGGTTTCTCACGCCCGTAATCCCAGCACTTTGG GAGGCTGAGGGGGGCAGATCACGAGGTCAGGAGATCAACATCATCCTGGC CAACATAGTGAAACTCCGTTTCTACTAAAAATACAAAAATCAGCTGGGCG TGGTGGCACATGCCTGTAGTCCCTGGTCTCGGGAGGCTGAGGCAGGAGAA TCGCTTGAACCAGGGAGTCGGAGATTGCAGTGAGCCGAGATCACGCCACT GCACTCCAACCTGGTGACAGAGTGAGACTCTGTCTCAGAAAACAAAAACA AGAAGAGCCAAGGTCTCCATCTGTCATCCGGGCTAGAGTGCAGTGGTACA ATCATAGCTCACTGCTACCCACTCCTGGGTAAGCCTTCATTTTTACATTA GTTTTGCTTTCTTAAAACTCTTAATTTCCCATTGAAGGAGCAAGCAGACA CTGGCTGCGTTTCCCATCTTTGATCTCTCTTGCACTTCAAGTCCCACATT CCTGGCATATCACAGCTGGAGGGATCCTTGGAGATCAGCATATTATGCTG CAGATCAGGAAACTGAGGCTCAGACAGCCGCTGAACTTGTGTTTAGCTAT GATGTGATACTAGGTTTCCCGACTCCTGGGCAGGCAGTTTTCCTGGTACA GCACTCTTTATCTGGTTGGTTTGTTTGTTTGTTTGTTTGTTTGTTTGAGA CAGAGTCTCGTAATGTCACCCAGGCTGGAATGCAATGATGCAGTCACAGC TTACTGCAGCCTCCACCTCCCAGGCTCAAGCAATCCTCTCCTCCCACCTC AGCCCTCTTCAGTAGCTGGGACCACAGGTGTGCACTACCACGCCTAGCTA ATTTTATTTATTTATTTATTTATTTATTGCAGAGATGGGGGTCTGTCTCC CTTTGTTGCCCAGGCTCAACTGGAATTTCTGGGTTCAAGTGATCCTCCCT CCTTAGCCTTCTAAGTAGCTGGGACTACAGGCACATGCCACTATGCATGG CTAATTTTTTTAAGTTTTTTATTATTATTATTTTTTTTTGAGACAGAGTT TCGCTCTTGTTGCCCAGGCTGGAGTGCTGCAATGGTGCAATCTCGGCCCA TCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCC GAGTAGCTGGGATTACAGGCATGCGGCACCACGCCTGGCTAATTTTGTAT TTTTTAGTAAAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACT CCCGACCTCAGGTGATCCGTCCTCCTAGGCCTCCCAAAGGGTTGGGATTA TAGGCTTGAGCCACCACGTCTAGCTGGCTAGGTTTTTTTAATACAATTTT TTTTAAAGTAAACTTTATTATATTATTATTTTATTTTTATTTTTTTGAGA CCAAGTCTCACTCTGTCGCCAGGCTGGAATGCAGTGGCACAATCTTGGCT TACTGCAACCTCCATCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCTGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03471.hp2 HG06807.hp1 HG02559.hp1 HG03471.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0105 a0001c0001t0002g0018 a0001c0001t0001g0105 a0001c0001t0002g0018	3	6	0.5000	1991	c.-46 others(2002): Show c.-4686_-4685insAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGGGAATTGCTTGAACCTGGGAGATGGAGG TTGCAGTAAGCCAAGATTGTGCCACTGCATTCCAGCCTGGCGACAGAGTG AGACTTGGTCTCAAAAAAATAAAAATAAAATAATAATATAATAAAGTTTA CTTTAAAAAAAATTGTATTAAAAAAACCTAGCCAGCTAGACGTGGTGGCT CAAGCCTATAATCCCAACCCTTTGGGAGGCCTAGGAGGACGGATCACCTG AGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTTT ACTAAAAAATACAAAATTAGCCAGGCGTGGTGCCGCATGCCTGTAATCCC AGCTACTCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCAGA GGTTGCGATGGGCCGAGATTGCACCATTGCAGCACTCCAGCCTGGGCAAC AAGAGCGAAACTCTGTCTCAAAAAAAAATAATAATAATAAAAAACTTAAA AAAATTAGCCATGCATAGTGGCATGTGCCTGTAGTCCCAGCTACTTAGAA GGCTAAGGAGGGAGGATCACTTGAACCCAGAAATTCCAGTTGAGCCTGGG CAACAAAGGGAGACAGACCCCCATCTCTGCAATAAATAAATAAATAAATA AATAAAATTAGCTAGGCGTGGTAGTGCACACCTGTGGTCCCAGCTACTGA AGAGGGCTGAGGTGGGAGGAGAGGATTGCTTGAGCCTGGGAGGTGGAGGC TGCAGTAAGCTGTGACTGCATCATTGCATTCCAGCCTGGGTGACATTACG AGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAACCAACCAGATA AAGAGTGCTGTACCAGGAAAACTGCCTGCCCAGGAGTCGGGAAACCTAGT ATCACATCATAGCTAAACACAAGTTCAGCGGCTGTCTGAGCCTCAGTTTC CTGATCTGCAGCATAATATGCTGATCTCCAAGGATCCCTCCAGCTGTGAT ATGCCAGGAATGTGGGACTTGAAGTGCAAGAGAGATCAAAGATGGGAAAC GCAGCCAGTGTCTGCTTGCTCCTTCAATGGGAAATTAAGAGTTTTAAGAA AGCAAAACTAATGTAAAAATGAAGGCTTACCCAGGAGTGGGTAGCAGTGA GCTATGATTGTACCACTGCACTCTAGCCCGGATGACAGATGGAGACCTTG GCTCTTCTTGTTTTTGTTTTCTGAGACAGAGTCTCACTCTGTCACCAGGT TGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAATCTCCGACTCCCTGGT TCAAGCGATTCTCCTGCCTCAGCCTCCCGAGACCAGGGACTACAGGCATG TGCCACCACGCCCAGCTGATTTTTGTATTTTTAGTAGAAACGGAGTTTCA CTATGTTGGCCAGGATGATGTTGATCTCCTGACCTCGTGATCTGCCCCCC TCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGAAACCATGCCCGGTG AGACCCTGACTCTTAAAAAAAGTGGGGGCGGGGAGGGGAGGTGGGTAGGG ACCAGATGCTGTAGCTCCCACCTGTAATCCCAGCACTTTGGGAGGCCAAG GTGTTTGTGACCTTGGTCAGGAGGTCAGGAGTTTGTGACCATCCTGGGCA GCATAACAAGACCCCAGCTCTACAAAAATAAATGAATGACGGCTGGGCAC ATTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGA TCACGAGGTCAGGATTTTGAGACCAGCCTCGCCAACATGGTGAAACCCCG TCTCTACTAAAAATACGAAAATTAGCCGGATGTGGTGGCACACACCTGTA ATCCCAGCTACTCAGGAGGCTAAGGTAGGAGAACCGCTTGAACCTGGGAG GCAGAGGTTACCATGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGGG ACGGAGC	RGS10	ENSG00000148908.15	transcript	ENST00000369103.3	protein_coding		4605		chr10	TogoVar
RGS10_chr10_119494817_119547719	119547323	C C	CGCTCCGT others(1984): Show CGCTCCGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCATGGTA ACCTCTGCCTCCCAGGTTCAAGCGGTTCTCCTACCTTAGCCTCCTGAGTA GCTGGGATTACAGGTGTGTGCCACCACATCCGGCTAATTTTCGTATTTTT AGTAGAGACGGGGTTTCACCATGTTGGCGAGGCTGGTCTCAAAATCCTGA CCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGT AAGCCAATGTGCCCAGCCGTCATTCATTTATTTTTGTAGAGCTGGGGTCT TGTTATGCTGCCCAGGATGGTCACAAACTCCTGACCTCCTACCTTGGCCT CCCAAAGTGCTGGGATTACAGGTGGGAGCTACAGCATCTGGTCCCTACCC ACCTCCCCTCCCCGCCCCCACTTTTTTTAAGAGTCAGGGTCTCACCGGGC ATGGTTTCTCACGCCCGTAATCCCAGCACTTTGGGAGGCTGAGGGGGGCA GATCACGAGGTCAGGAGATCAACATCATCCTGGCCAACATAGTGAAACTC CGTTTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGCACATGCCTG TAGTCCCTGGTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGA GTCGGAGATTGCAGTGAGCCGAGATCACGCCACTGCACTCCAACCTGGTG ACAGAGTGAGACTCTGTCTCAGAAAACAAAAACAAGAAGAGCCAAGGTCT CCATCTGTCATCCGGGCTAGAGTGCAGTGGTACAATCATAGCTCACTGCT ACCCACTCCTGGGTAAGCCTTCATTTTTACATTAGTTTTGCTTTCTTAAA ACTCTTAATTTCCCATTGAAGGAGCAAGCAGACACTGGCTGCGTTTCCCA TCTTTGATCTCTCTTGCACTTCAAGTCCCACATTCCTGGCATATCACAGC TGGAGGGATCCTTGGAGATCAGCATATTATGCTGCAGATCAGGAAACTGA GGCTCAGACAGCCGCTGAACTTGTGTTTAGCTATGATGTGATACTAGGTT TCCCGACTCCTGGGCAGGCAGTTTTCCTGGTACAGCACTCTTTATCTGGT TTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGAGACAGAGTCTCGTAATGT CACCCAGGCTGGAATGCAATGATGCAGTCACAGCTTACTGCAGCCTCCAC CTCCCAGGCTCAAGCAATCCTCTCCTCCCACCTCAGCCCTCTTCAGTAGC TGGGACCACAGGTGTGCACTACCACGCCTAGCTAATTTTATTTATTTATT TATTTATTTATTTATTTATTTATTTATTGCAGAGATGGGGGTCTGTCTCC CTTTGTTGCCCAGGCTCAACTGGAATTTCTGGGTTCAAGTGATCCTCCCT CCTTAGCCTTCTAAGTAGCTGGGACTACAGGCACATGCCACTATGCATGG CTAATTTTTTTAAGTTTTTTATTATTATTATTTTTTTTTGAGACAGAGTT TCGCTCTTGTTGCCCAGGCTGGAGTGCTGCAATGGTGCAATCTCGGCCCA TTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCC GAGTAGCTGGGATTACAGGCATGCGGCACCACGCCTGGCTAATTTTGTAT TTTTTAGTAAAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACT CCCGACCTCAGGTGATCCGTCCTCCTAGGCCTCCCAAAGGGTTGGGATTA TAGGCTTGAGCCACCACGTCTAGCTGGCTAGGTTTTTTTAATACAATTTT TTTTAAAGTAAACTTTATTATATTATTATTTTATTTTTATTTTTTTGAGA CCAAGTCTCACTCTGTCGCCAGGCTGGAATGCAGTGGCACAATCTTGGCT TACTGCAACCTCCATCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGTTGCGTGCCACCACACCTGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	4	0.2500	1991	c.-46 others(2002): Show c.-4686_-4685insAGCCAGGTGTGGTGGCACGCAACTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGGGAATTGCTTGAACCTGGGAGATGGAGG TTGCAGTAAGCCAAGATTGTGCCACTGCATTCCAGCCTGGCGACAGAGTG AGACTTGGTCTCAAAAAAATAAAAATAAAATAATAATATAATAAAGTTTA CTTTAAAAAAAATTGTATTAAAAAAACCTAGCCAGCTAGACGTGGTGGCT CAAGCCTATAATCCCAACCCTTTGGGAGGCCTAGGAGGACGGATCACCTG AGGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTTT ACTAAAAAATACAAAATTAGCCAGGCGTGGTGCCGCATGCCTGTAATCCC AGCTACTCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCCGGGAGGCAGA GGTTGCAATGGGCCGAGATTGCACCATTGCAGCACTCCAGCCTGGGCAAC AAGAGCGAAACTCTGTCTCAAAAAAAAATAATAATAATAAAAAACTTAAA AAAATTAGCCATGCATAGTGGCATGTGCCTGTAGTCCCAGCTACTTAGAA GGCTAAGGAGGGAGGATCACTTGAACCCAGAAATTCCAGTTGAGCCTGGG CAACAAAGGGAGACAGACCCCCATCTCTGCAATAAATAAATAAATAAATA AATAAATAAATAAATAAATAAAATTAGCTAGGCGTGGTAGTGCACACCTG TGGTCCCAGCTACTGAAGAGGGCTGAGGTGGGAGGAGAGGATTGCTTGAG CCTGGGAGGTGGAGGCTGCAGTAAGCTGTGACTGCATCATTGCATTCCAG CCTGGGTGACATTACGAGACTCTGTCTCAAACAAACAAACAAACAAACAA ACAAACAAACCAGATAAAGAGTGCTGTACCAGGAAAACTGCCTGCCCAGG AGTCGGGAAACCTAGTATCACATCATAGCTAAACACAAGTTCAGCGGCTG TCTGAGCCTCAGTTTCCTGATCTGCAGCATAATATGCTGATCTCCAAGGA TCCCTCCAGCTGTGATATGCCAGGAATGTGGGACTTGAAGTGCAAGAGAG ATCAAAGATGGGAAACGCAGCCAGTGTCTGCTTGCTCCTTCAATGGGAAA TTAAGAGTTTTAAGAAAGCAAAACTAATGTAAAAATGAAGGCTTACCCAG GAGTGGGTAGCAGTGAGCTATGATTGTACCACTGCACTCTAGCCCGGATG ACAGATGGAGACCTTGGCTCTTCTTGTTTTTGTTTTCTGAGACAGAGTCT CACTCTGTCACCAGGTTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAA TCTCCGACTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGACC AGGGACTACAGGCATGTGCCACCACGCCCAGCTGATTTTTGTATTTTTAG TAGAAACGGAGTTTCACTATGTTGGCCAGGATGATGTTGATCTCCTGACC TCGTGATCTGCCCCCCTCAGCCTCCCAAAGTGCTGGGATTACGGGCGTGA GAAACCATGCCCGGTGAGACCCTGACTCTTAAAAAAAGTGGGGGCGGGGA GGGGAGGTGGGTAGGGACCAGATGCTGTAGCTCCCACCTGTAATCCCAGC ACTTTGGGAGGCCAAGGTAGGAGGTCAGGAGTTTGTGACCATCCTGGGCA GCATAACAAGACCCCAGCTCTACAAAAATAAATGAATGACGGCTGGGCAC ATTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGA TCACGAGGTCAGGATTTTGAGACCAGCCTCGCCAACATGGTGAAACCCCG TCTCTACTAAAAATACGAAAATTAGCCGGATGTGGTGGCACACACCTGTA ATCCCAGCTACTCAGGAGGCTAAGGTAGGAGAACCGCTTGAACCTGGGAG GCAGAGGTTACCATGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGGG ACGGAGC	RGS10	ENSG00000148908.15	transcript	ENST00000369103.3	protein_coding		4605		chr10	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(1984): Show ATATATATATAAATATATATATATATATAAATATATATATATAAATATAT ATAAATATATATAAATATATATATAAATATATATAAATATATATAAATAT ATATATAAATATATATAAATATATATAAATATATATATAAATATATATAA ATATATATATAAATATATATATAAAAATATATAAAAAATATATAAAAATA TATATAAAAATATATATAAATATATATATAAATATATATAAATATATATA TAAATATAAATATAAATATATATATAAATATATATATAAATATATATATA AATATATATATAAATATATATATAAATACATATATATAAAAATATGTATA AATATATATAAATATATATATAAAAATATATATAAATATATAGATAAATA TATAGATAAATATATATATAAATATATAGATAAATATATAGATAAATATA TATATAAATATATAGATAAATATATATAAATATATAGATAAATATATAGA TAAATATATATAAATATATAAAAATATATGTATATAAATATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATATAAATATATATATAAATATATATATAAATATATAAAAATA TATAAAAATATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATATAAGTATATATAAAAATA TATATAAATATATATAAATATATATAAAAATATATAAAAATATATATAAA TATATAAATATATATAAATATATATAAAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATAAATATATAAATATATATAAATATATA TATAAATATATATAAATATATATAAATATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA CATATATATAAATATATATAAATATATATACATATATAAATATATAAAAA ATATATAAATATATAAAAAATATATAAATATATAAAAATATATATAAATA TATATAAATATATATACATATATATACATATATATAAATATATAAAAATA TATAAATATATATAAATATAAATATATACAAATATATATATAAATATGTA TAAATATATAAAAATATATATATAAATATATAAAAATATATATATTAATA TATAAAAATATATATATTAATATATAAAAATATATATAAATATATATATA AATATATATATATAAATATATATAAAAATATATATAAAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATAAATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TATAAATATATATAAACATATATAAATATATATAAAAATATATATAAATA TATATAAATATATATAAATATATATAAAAATATATATAAATATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA AAAAATATATATAAATATATAAATATATATATATAAATATATATAAATAT ATAAAAAATATATATATAAATATATATAAATATATTTATATATATAAATA TATTTATATATAAATATAAATATATATAAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	28	0.0357	1991	c.-50 others(2002): Show c.-5060_-5059insTATATATATAAATATATATATATATATAAATATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATATAAATATATATATAAAAATATATAAA AAATATATAAAAATATATATAAAAATATATATAAATATATATATAAATAT ATATAAATATATATATAAATATAAATATAAATATATATATAAATATATAT ATAAATATATATATAAATATATATATAAATATATATATAAATACATATAT ATAAAAATATGTATAAATATATATAAATATATATATAAAAATATATATAA ATATATAGATAAATATATAGATAAATATATATATAAATATATAGATAAAT ATATAGATAAATATATATATAAATATATAGATAAATATATATAAATATAT AGATAAATATATAGATAAATATATATAAATATATAAAAATATATGTATAT AAATATATATATAAATATATATATAAATATATATAAATATATATATAAAT ATATATAAATATATATAAATATATATATATAAATATATATATAAATATAT ATAAATATATATAAATATATATATATAAATATATATATAAATATATATAT AAATATATAAAAATATATAAAAATATATATATAAATATATATAAATATAT ATATAAATATATATAAATATATATAAATATATATATAAATATATATATAA GTATATATAAAAATATATATAAATATATATAAATATATATAAAAATATAT AAAAATATATATAAATATATAAATATATATAAATATATATAAAAATATAT ATAAATATATATAAATATATATATAAATATATATAAATATATATATAAAT ATATATAAATATATATAAATATATATATAAATATATATATAAATATATAT AAATATATATAAATATATATATAAATATATATAAATATATATAAATATAT ATATAAATATATATAAATATATATAAATATATATATAAATATATATAAAT ATATATAAATATATATATAAATATATATAAATATATATAAATATATAAAT ATATATAAATATATATATAAATATATATAAATATATATAAATATATATAT AAATATATATAAATATATATATAAATATATATAAATATATATAAATATAT ATATAAATATATATACATATATATAAATATATATAAATATATATACATAT ATAAATATATAAAAAATATATAAATATATAAAAAATATATAAATATATAA AAATATATATAAATATATATAAATATATATACATATATATACATATATAT AAATATATAAAAATATATAAATATATATAAATATAAATATATACAAATAT ATATATAAATATGTATAAATATATAAAAATATATATATAAATATATAAAA ATATATATATTAATATATAAAAATATATATATTAATATATAAAAATATAT ATAAATATATATATAAATATATATATATAAATATATATAAAAATATATAT AAAAATATATATAAATATATATATAAATATATATAAATATATATAAATAT ATATAAATATATATAAATATATATAAATATATATAAATATATATATAAAT ATATATAAATATATATATAAATATATATAAACATATATAAATATATATAA AAATATATATAAATATATATAAATATATATAAATATATATAAAAATATAT ATAAATATATATATAAATATATATAAATATATATATAAATATATATAAAT ATATATAAATATATAAAAAATATATATAAATATATAAATATATATATATA AATATATATAAATATATAAAAAATATATATATAAATATATATAAATATAT TTATATATATAAATATATTTATATATAAATATAAATATATATAAATATAT ATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
SPI1_chr11_47349860_47383547	47371360	A A	AAAAAAAA others(1984): Show AAAAAAAAAAAAAGAAAAGAAAAAAGAAAGACAGACTGGAAAAATAGCTT TTATCAATCTCTGATATGCTACATATGTCATGGAGAAATGCAGAATGGCA TGATATGAAATTCCATTTTTGAATGAATAAAATATACATGTGTATGTATA TATACTTATTAACACTTAGGATTATATACACACAATAAAACGTCTGTAAG GATAAACTAAGGTTCTATCAGTGGGAAATGAGATTGAAAAGAGGGGGATG TGTTACTTGATATGCTGTTGTATTTTTAAAGTTTTTGCAATTAATATTTG TTACTTTAATAATTAAAAATTAGGCTGGGCGTGGTGGCTCACACTTGTAA TCTCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCTTGAGCCCAGGAGT TCGAGACCAGCCTAGGCAAACATGGTGAAACCCCATCTCTATAAAAAATA CAAAAAATTAGCCAGGCCATGGTGGCACAAACCTGTAGTCCCAGCTACTT GGGGGCCTGAGGCAGGAGAATTGCTTGAACCCCATAGGTAGAGGCTGCAG TGAGCCAAGATTGCACCACTGCACTCCAGCTTGGGTGACAAAGTGAGACC CTGCCTTTTTTTTTTAATTTTCGAGACGAAGTCTCGCTCTGTTGCCCAGG CTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCA AGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAAAGATGGAGTTT CATCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCCACC TGCCTCAGCCTCCCAAAGTGCTAAGATTACAGGCATGAGCCACTGGGCCT GGCCTAATTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCT GGTCTTTAACTCCTGACCTCAAGTGATCCACCTGTCTCCGCATCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCTTTTCTTTCTTTCT TTTTTTTTTTTTTAAGACAGTGTCTTGGCCAGGCACGGTGGCTCACGCCT GTAATCCCAACACTTTGGGACGCTGAGACAGGTGGATCACTTGAGTCAGG AGTTCAAGACCAGCCTGGCCAACATAATGAAGCCCCATCTCTACTAAAAA TACAAAAATTAGGCTGGGCTCAGTGGCTCACGCCTGTAATCCTAGCACTT TGGGAGCTGAGGCGGGTGGATCACCTGAGATCAGGATTTCAACCAACCTG GCCAACATGGTGAAACCCGTATCTACTAAAATACAAAAATTAGCCGGGCA TGGTGGCGGGCACCTATAATCCCAGCTACTCAGAAGACTGAGGCAGGAGA ATCACTTGAACCCAGGGGCAGAGGTTGCAGTGAGCCAAAATCGCGCCACT GCACTCCAGCCTGGGTGAGACAGTGAAACCCTGTCTCAAAAAAATAAAAA TTAAAATACAAAAATTAGCCAGGCGTGTTGGCATGTGCCTGTAGTCCCAG GTACTCGGGAGGCTGAGGCAGGAGGAGAATAACTTGAACCCAGGAGGCAG AAGTTGCAGTGAGCGAGATTGCGCCACTGCGCTCCAGCCTGGGTGACAGA GCGAGACTCCGTCTCAAAAATAAATAAGACCCCAAAATAGTAAAAATAAA AATTAGAAGATTTTGCCCAGGCGCAGTGGCTCACACCTATAATCCTAGCA CTTTGGGAGGCCGAGGTGGGTGGATTGCTTGAGCCTAGGAGTTCAAGACC AGCTGGGCAACATGGCGAAACCCCATCTCTACAAAGAATACAAAAATTAG CTGAGCATGGTGGCAGGTGCCTGTACTCCCAGTGAATCGGAAGGTTGAGG TGGGAGAATCACCTTAGCCCAGGAGGTCAAGGCTGCAGTGAGCTGTGATC ATGCATTGCACTCCACCCTGGGTGAGAGTGAGACTCTATCTC	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	86	0.0116	1991	c.142 others(2008): Show c.142+4272_142+4273insGAGATAGAGTCTCACTCTCACCCAGGGT GGAGTGCAATGCATGATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTA AGGTGATTCTCCCACCTCAACCTTCCGATTCACTGGGAGTACAGGCACCT GCCACCATGCTCAGCTAATTTTTGTATTCTTTGTAGAGATGGGGTTTCGC CATGTTGCCCAGCTGGTCTTGAACTCCTAGGCTCAAGCAATCCACCCACC TCGGCCTCCCAAAGTGCTAGGATTATAGGTGTGAGCCACTGCGCCTGGGC AAAATCTTCTAATTTTTATTTTTACTATTTTGGGGTCTTATTTATTTTTG AGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGCGCAGTGGCGCAATCTC GCTCACTGCAACTTCTGCCTCCTGGGTTCAAGTTATTCTCCTCCTGCCTC AGCCTCCCGAGTACCTGGGACTACAGGCACATGCCAACACGCCTGGCTAA TTTTTGTATTTTAATTTTTATTTTTTTGAGACAGGGTTTCACTGTCTCAC CCAGGCTGGAGTGCAGTGGCGCGATTTTGGCTCACTGCAACCTCTGCCCC TGGGTTCAAGTGATTCTCCTGCCTCAGTCTTCTGAGTAGCTGGGATTATA GGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTAGTAGATACGGGT TTCACCATGTTGGCCAGGTTGGTTGAAATCCTGATCTCAGGTGATCCACC CGCCTCAGCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGAGCCCA GCCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCATTATGTTGGCCAG GCTGGTCTTGAACTCCTGACTCAAGTGATCCACCTGTCTCAGCGTCCCAA AGTGTTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAAGACACTGTCT TAAAAAAAAAAAAAAGAAAGAAAGAAAAGGCTGGGCATGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGATGCGGAGACAGGTGGATCACTTGAGGTC AGGAGTTAAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAA AAATAAATTAGGCCAGGCCCAGTGGCTCATGCCTGTAATCTTAGCACTTT GGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAACC TGGCCAACATGATGAAACTCCATCTTTACTAAAAATACAAAAATTAGCTG GGCATGGTGGCGCTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCA CCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTTCGTCTCGAAAATTA AAAAAAAAAGGCAGGGTCTCACTTTGTCACCCAAGCTGGAGTGCAGTGGT GCAATCTTGGCTCACTGCAGCCTCTACCTATGGGGTTCAAGCAATTCTCC TGCCTCAGGCCCCCAAGTAGCTGGGACTACAGGTTTGTGCCACCATGGCC TGGCTAATTTTTTGTATTTTTTATAGAGATGGGGTTTCACCATGTTTGCC TAGGCTGGTCTCGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTC CCAAAGTGCTGAGATTACAAGTGTGAGCCACCACGCCCAGCCTAATTTTT AATTATTAAAGTAACAAATATTAATTGCAAAAACTTTAAAAATACAACAG CATATCAAGTAACACATCCCCCTCTTTTCAATCTCATTTCCCACTGATAG AACCTTAGTTTATCCTTACAGACGTTTTATTGTGTGTATATAATCCTAAG TGTTAATAAGTATATATACATACACATGTATATTTTATTCATTCAAAAAT GGAATTTCATATCATGCCATTCTGCATTTCTCCATGACATATGTAGCATA TCAGAGATTGATAAAAGCTATTTTTCCAGTCTGTCTTTCTTTTTTCTTTT CTTTTTTTTTTTT	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding	2/4			chr11	TogoVar
DIP2C_chr10_269201_694668	477345	A A	AGGGGGAG others(1985): Show AGGGGGAGGGAGGGGAGGAAGGGGGAGGGAGGGGGAGAGAGGGGAGGAAG GGGGAGGGAGGGGAGGAAGGGGGAGGGAGGGGGAGAGAGGGGAGGAAGGG GGAGGGAGGGGGAGAGAGGGGAGGAAGGGGGAGGGAGGGGGAGAGAGGGG AGGAAGGGGGAGGGAGGGGGAGAGGGGAGGAAGGGGGAGGGAGGGGGAGA GAGGGGAGGAAGGGGGAGGGAGGGGGAGGGAGGGGGAGAGAGGGGAGGGA GGGGGAGGGAGGGGGAGAGAGGGGAGGGAGGGGGAGGGAGGGGGAGAGGG GAGGAAGGGGAGGGGAAGTGGATAGATGGCAGGTGGGGGAGAGAGAGGAG AAAGGTGGATAAAGGGAGGGGGAGAGGAAGGAGGGGGCACAGGGGGAGGA AGGGGCACGGGGGAAGGTGGGGGGGTGGGGGGAGGAAGGTGGATGGGGGG AGGAAGGTGGATGGGGGGAGGCGGGGGGAGGAAGGTGGATGGGGGGAGGC GGGGGGAGGAAGGTGGATGGGGGGAGACGGGGGGAGGAAGGTGGATGGGG GGAGGCGGGGGGAGGAAGGTGGATGGGGGGAGGCGGGGGGAGGAAGGTGG ATGGGGGGAGGCGGGGGGAGGAAGGTGGATGGGGGGAGGCGGGGGGAGGA AGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAG GTGGATGGGGAGGAAGGTGGATGGGGGAGGCGGGGGGAGGAAGGTGGATG GGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGG GAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGA GGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGG AAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAA GGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGG TGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTG GATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGA TGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATG GGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGG GAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGA GGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGG AAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAA GGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGG TGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTG GATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGA TGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATG GGGAGGAAGGCAGGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGA GGAAGGCGGGGGGAGGAAGGTGGATGGGGGGAGGCAGGGGGAGGAAGGTG GATGGGGAGGAAGGCGGGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATG GGGAGGAAGGCGGGGGGAGGAAGGTGGATGGGGGGAGGCGGGGGGAGGAA GGTGGATGGGGGGAGGCGGGGGGAGGAAGGTGGATGGGGGGAGACGGGGG GAGGAAGGTGGATGGGGGGAGGCGGGGGGAGGAAGGTGGATGGGGGGAGG CGGGAGGAGGAAGGTGGATGGGGGGAGGCGGGGGGAGGAAGGTGGATGGG GAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGGGGA GGAAGGTGGATGGGGAGGAAGGTGGATGGGGAGGAAGGTGGAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0077 a0001c0007t0002g0077	1	37	0.0270	1992	c.158 others(2009): Show c.158-4797_158-4796insATCCACCTTCCTCCCCATCCACCTTCCT CCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCC CCATCCACCTTCCTCCCCATCCACCTTCCTCCCCCCGCCTCCCCCCATCC ACCTTCCTCCTCCCGCCTCCCCCCATCCACCTTCCTCCCCCCGCCTCCCC CCATCCACCTTCCTCCCCCCGTCTCCCCCCATCCACCTTCCTCCCCCCGC CTCCCCCCATCCACCTTCCTCCCCCCGCCTCCCCCCATCCACCTTCCTCC CCCCGCCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCCC GCCTTCCTCCCCATCCACCTTCCTCCCCCTGCCTCCCCCCATCCACCTTC CTCCCCCCGCCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCC CCCTGCCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCAT CCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCC ACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCAC CTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCT TCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTC CTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCT CCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCC CCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCC ATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCAT CCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCC ACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCAC CTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCT TCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTC CTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCT CCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCC CCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCC ATCCACCTTCCTCCCCATCCACCTTCCTCCCCCCGCCTCCCCCATCCACC TTCCTCCCCATCCACCTTCCTCCCCATCCACCTTCCTCCCCATCCACCTT CCTCCCCATCCACCTTCCTCCCCCCGCCTCCCCCCATCCACCTTCCTCCC CCCGCCTCCCCCCATCCACCTTCCTCCCCCCGCCTCCCCCCATCCACCTT CCTCCCCCCGCCTCCCCCCATCCACCTTCCTCCCCCCGTCTCCCCCCATC CACCTTCCTCCCCCCGCCTCCCCCCATCCACCTTCCTCCCCCCGCCTCCC CCCATCCACCTTCCTCCCCCCATCCACCTTCCTCCCCCCACCCCCCCACC TTCCCCCGTGCCCCTTCCTCCCCCTGTGCCCCCTCCTTCCTCTCCCCCTC CCTTTATCCACCTTTCTCCTCTCTCTCCCCCACCTGCCATCTATCCACTT CCCCTCCCCTTCCTCCCCTCTCCCCCTCCCTCCCCCTCCCTCCCCTCTCT CCCCCTCCCTCCCCCTCCCTCCCCTCTCTCCCCCTCCCTCCCCCTCCCTC CCCCTTCCTCCCCTCTCTCCCCCTCCCTCCCCCTTCCTCCCCTCTCCCCC TCCCTCCCCCTTCCTCCCCTCTCTCCCCCTCCCTCCCCCTTCCTCCCCTC TCTCCCCCTCCCTCCCCCTTCCTCCCCTCTCTCCCCCTCCCTCCCCCTTC CTCCCCTCCCTCCCCCTTCCTCCCCTCTCTCCCCCTCCCTCCCCCTTCCT CCCCTCCCTCCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DNAH10_chr12_123757301_123940714	123911541	C C	CTGTCCTG others(1985): Show CTGTCCTGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGTCTGTCCCA GGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGTCTGTCCTGGGGGGA CTGTCCTGGGGGGATCTGTCCTGGGGGGGTCTGTCCTGGGGGCATCCGTC CTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGATCTGTCCTGGG GGGTTTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTCTGTCCTGGAGGGGT CTGTCCTAGGGGAGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGT CCCGGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGGTCTGTCCTGGG GGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG GTCTGTCCCAGGGGATCTGTCCTTGGGGGACTGTCCTGGGGGGGTCTGTC CTGGGGGCATCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCCAG GGGGTCTGTCCTGGGGGGATCTGTCCTGGGGAGGTCTGTCCTGGGGGGTC TGTCCTGGAGGTGTCTGTCCTTGGGGGGGGTCTGTCCTGGGGGAGTCTGT CCTGGGGGGGTCTGTCCTAGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGG GGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGG AGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGTCTG TCCTGGGGGCGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCT GGGGGGGTCTGTCCTGGGGGGGAGGTCTGTCCTGGGGGAGTCTGTCCTGG GGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGCG TCTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGTC TGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCC TGGGGGAGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGG GGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGG TCTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTG TCCTGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTCTGTCCT GGGGGGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGTTCTGTCCTGGGGGG GTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTG TCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGGGGTCTG TCCTGGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTC CTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGG GGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGG TCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGCCTGTCCTGGGGGGGGGTC TGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGT CCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGCCTGTCCTGG GGGGGGGTCTGTCCTGGGGGAGGGTCTGTCCTGGGGGGTCTGTCCTGGGG GGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTT TGTCCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGT CCTGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCT GGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTGTCCTGGGGGT TCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTC CTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0050 a0050	a0050c0073 a0050c0073	a0050c0073t0002 a0050c0073t0002	a0050c0073t0002g0123 a0050c0073t0002g0123	1	127	0.0079	1992	c.101 others(2011): Show c.10134+878_10134+879insGGGTCTGTCCCGGGGGGACTGTCCTG GGGGGTCTGTCCCAGGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGT CTGTCCTGGGGGGACTGTCCTGGGGGGATCTGTCCTGGGGGGGTCTGTCC TGGGGGCATCCGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGG GGATCTGTCCTGGGGGGTTTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTC TGTCCTGGAGGGGTCTGTCCTAGGGGAGTCTGTCCTGGGGGGGGTCTGTC CTGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGG GGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGGGGG TCTGTCCTGGGGGGGTCTGTCCCAGGGGATCTGTCCTTGGGGGACTGTCC TGGGGGGGTCTGTCCTGGGGGCATCTGTCCTGGGGGGGGTCTGTCCTGGG GGGGTCTGTCCCAGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGAGGTC TGTCCTGGGGGGTCTGTCCTGGAGGTGTCTGTCCTTGGGGGGGGTCTGTC CTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTAGGGGGGTCTGTCCTGGG GGGTTTGTCCTGGGGGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGGGGG GTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGT CCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGGGGTCTGTCCTG GGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGAGGTCTGTCCTGGG GGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGT CTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTGT CCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCC TGGGGGGTCTGTCCTGGGGGAGGGTCTGTCCTGGGGGGTCTGTCCTGGGG GGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTT TGTCCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGT CCTGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCT GGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGT TCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTC CTGGGAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTG GGGGGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCT GGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGG GGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGG TCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGCCTGT CCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCT GGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGG GGGGCCTGTCCTGGGGGGGGGTCTGTCCTGGGGGAGGGTCTGTCCTGGGG GGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTC TGTCCTGGGGGGTTTGTCCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCC TGGGAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTG GGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGG TCTGTCCTGGGGGTTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTC CTGGGGGGTTTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTG GGGGGTTTGTCCTGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DYM_chr18_49031387_49465645	49203061	G G	GCCCCCCG others(1985): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACC CTGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCGCCCC GTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GAAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCCGGAAGGAGGTGGGGGGG TCAGCCCCGCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGT CAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGTCCGGCCAGCCGCT CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCTGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGTCCGGCCAGC CGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCTGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGACTGGGAGGTGAGGGGCGC CTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCTGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCTCCGCCCGGCCAG CCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCTTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCGGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCGGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0143 a0001c0001t0018g0143	1	73	0.0137	1992	c.162 others(2011): Show c.1625+6489_1625+6490insGCTGACCCCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACCGGGCGGCTGGCCGGGCAG GGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CCGGGGGCCGACCCCCCCACCTCCCTCCCGGAAGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGTCGGGGCGGCTGGCC GGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCA GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGAGCGGCTGGCCGGACGGGGGGCCGACACCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGAGCGGCTGGCCGGACGGGGGGCCGACACCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGCGGGGCTGACCCCCCCACCTCCTTCCGGGACGGGGCGGCTGG CCGGGCAGAGGGGCTTCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGTTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCC ATCTCCCTCCCGGACAGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGG	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	14/17			chr18	TogoVar
EXD3_chr9_137301896_137428162	137355484	A A	AGGAGAAA others(1985): Show AGGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGAGGACGGAGGAAGGAGGA TGGAGGAAGGAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAAGGAGGAA GGAGGAAGGGAGGAAGGAGGATGGAGGAAGGAGGACGGAGGAAGGAGGAT GGAGGAAGGAGGAAGGAGGATGGAGGAAGGGAGGATGGAGGAAGGAGGAT GGAGGAGGAGGAGGAAGGAGGAAGGAGGAAGGGAGGATGGAGGAAGGAGA AAGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGGA AGGAGGAAGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAA GGAGAAAGGGAGAAGGAGAAAGGAGGAAGGAGGACGGAGGAAGGAGGAAG GAGGACGGAGGAAGGAGGAAGGAGGATGGAGGAAGGGAGGATGGAGGAAG GAGGAAGGAGGAAGGAGGATGGAGGATGGAGGAAGGAGAAAGGAGGAAGG AGAAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGA GGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGA GGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGGAGGAAGGA GGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGGAGGAAGGAGGAAGGA GGAAGGAGGAAGGAGGATGGAGGATGGAGGAAGGAGAAAGGAGGAAGGAG GAAGGAGGACGGAGGAAGGAGGAAGGAGGATGGAGGAAGGGAGGAAGGAG GAAGGAGGAAGGAGGAAGGAGGATGGAGGATGGAGGAAGGAGAAAGGAGG AAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGGAAGGAGGA AGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGA AGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGGAGGA AGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGGAGGAAGGAGGA AGGAGGAAGGAGGAAGGAGGATGGAGGAAGGGAGGAAGGAGGAAGGAGGA AGGAGGAAGGAGGATGGAGGATGGAGGAAGGAGGACGGAGGAAGGAGGAA GGAGGACGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGAGGATGGAGGATGGAGGAAGGAGAAAGGAGGAAGG AGAAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGA GGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGA GGAAGGAGGAAGGAGGAAGGAGGATTGAGGAAGGAGGAAGGGAGGAAGGA GGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGGAGGAAGGAGGAAGGA GGATGGAGGAAGGGAGGATGGAGGAAGGAGAAAGGAGGAAGGAGAGAAAG GAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGG AGAAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGG AGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGG AGAAAGGAGGAAGGAGGACGGAGGAAGGAGAAGGGAGGAAGGAGGAAAGA GGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGGAGGGAGGAAGGAG GAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGGAGGAAGGAG GAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGGAGGAAGGAAGGGAGGA AGGAGGAAGGAGGATGGAGGAAGGGAGGATGGAGGAAGGAGAAAGGAGGA AGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGGAT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	80	0.0125	1992	c.758 others(2007): Show c.758-712_758-711insATCCTCCTTTCTCCTTCCTCCTTCCTCCTT CCTCCTTTCTCCTTCCTCCTTTCTCCTTCCTCCATCCTCCCTTCCTCCAT CCTCCTTCCTCCTTCCTCCCTTCCTTCCTCCCTTCCTCCATCCTCCTTCC TCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCATCCTCCTTCC TCCTTCCTCCTTCCTCCTTCCTCCCTCCTCCTTCCTCCTTCCTCCTTCCT CCTTTCTCCTTCCTCTTTCCTCCTTCCTCCCTTCTCCTTCCTCCGTCCTC CTTCCTCCTTTCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCATCCTC CTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTC CTTCCTCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCC TTCCTCCTTCCTCCTTTCTCTCCTTCCTCCTTTCTCCTTCCTCCATCCTC CCTTCCTCCATCCTCCTTCCTCCTTCCTCCCTTCCTCCATCCTCCTTCCT CCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCAATCCTCCTTCCT CCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCT CCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTCCTC CTTCCTCCTTTCTCCTTCCTCCTTTCTCCTTCCTCCATCCTCCATCCTCC TTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCT TCCTCCGTCCTCCTTCCTCCTTCCTCCGTCCTCCTTCCTCCATCCTCCAT CCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCATCCTCCTT CCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCATCCTCCTTCCTCCTT CCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTT CCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTT TCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTCCTCCTTC CTCCTTTCTCCTTCCTCCTTTCTCCTTCCTCCATCCTCCATCCTCCTTCC TCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCATCCTCCTTCCTCCTTCC TCCGTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCATCCTCCATCCT CCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCATCCTCCTTCCT CCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCATCCTCCTTCCT CCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCT CCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTCCTC CTTCCTCCTTTCTCCTTCCTCCTTTCTCCTTCCTCCATCCTCCATCCTCC TTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCATCCTCCTTCCTCC TTCCTCCGTCCTCCTTCCTCCTTCCTCCGTCCTCCTTCCTCCTTTCTCCT TCTCCCTTTCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTT CCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTT CTCCTTCCTCCTTTCTCCTTCCTCCATCCTCCCTTCCTCCTTCCTCCTTC CTCCTCCTCCTCCATCCTCCTTCCTCCATCCTCCCTTCCTCCATCCTCCT TCCTCCTTCCTCCATCCTCCTTCCTCCGTCCTCCTTCCTCCATCCTCCTT CCTCCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCGTCCTCCTT CCTCCTTCCTCCATCCTCCTTCCTCCGTCCTCCTTCCTCCTTTCTCCTTC CTCCCTTTCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FOXK2_chr17_82514732_82609602	82586259	G G	GGGGAAAG others(1985): Show GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGG GAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAA TGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAT GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAT GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAATGG AGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAATGGAG GAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAATGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTCAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGA CCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCCGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTCAAAGGTGGGCCGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTCAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTAGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCCGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAG GTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTG GGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGG GCGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCG GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0113 a0002c0002t0002g0113	1	261	0.0038	1992	c.157 others(2007): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTAGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCGGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGG TAGGCGGAGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCCGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCCGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTG GGCGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGG GCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC CGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC AGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCG GGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAG TGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGT GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGG AGACCACAGGGAGGTCAAAGGTAGGCAGTGGGGAAAGGAGGAGAGGGGAG ACCACAGGGAGGTGAAAGGTGGGCCGGGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTCAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTCAAAGGTGGGCGGGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTCAAAGGTGGGCGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCA AAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCAGTGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586547	G G	GCGGGGGG others(1985): Show GCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGG GGAATGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAG GAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCAGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGA CCACAGGGAGGTCAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAA AGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGG TGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGG GCCGGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTG GGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG CAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0043 a0001c0017t0043	a0001c0017t0043g0016 a0001c0017t0043g0016	1	277	0.0036	1992	c.157 others(2009): Show c.1576+350_1576+351insGGGGGAATGGAGGAGAGGGGAGACCACA GGGAGGTCAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTG GGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGG GCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGG CCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG CCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC CGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCA GTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGG AGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAG ACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGA CCACAGGGAGGTCAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCCGGGGGGGGGAATGGAGGAGAGGGGAGACC ACAGGGAGGTCAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTCAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTCAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCCGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FSHR_chr2_48957157_49159515	49159511	T T	TAGATATA others(1985): Show TAGATATACCAGCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTATCTTA CATTTTTATTTTTTTATTTTTATTTTTTTTTTTTTTATTGTTTGCCATCT TAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTT AGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCC ATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCT CCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGT GTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACC TATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTAC TGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAAC TCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACAT TTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCT TTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTA TAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGC TGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTG ACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGT GTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTT AATGATTGCCATTCTAAATGGTGTGAGATGATATCTCATAGTGGTTTTGA TTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTT TTGGCTGCATAAATGTCTTCAGCAAAGTCTCAGGATACAAAATCAATGTA CAAAAATCACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCA AATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACC TAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTAC AAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATGGAAGAACAT TCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGC CCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACT TTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAA AAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAG GCATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAA ACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAAC AGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACA AACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGG TGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTT CCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACG TTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATT CAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAAT GGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCT TCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACA TGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAG AATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCA TCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	336	0.0030	1992	c.-50 others(2003): Show c.-5095_-5094insTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCC ACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCA TTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAAT TTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTG CTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCT TTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCC TATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTT TAGGTTTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTTTGTATAA GGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTT TTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTT TCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCT GAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGTA CCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTA GTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAATG CGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTC TGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTGTAAA TTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCCTACCCAT GAGCATGGAATGTTCTTCCATTTGTTTGTCTCCTCTTTTATTTCCTTGAG CAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGTT GGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCA CCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGAATGCTTG TGATTTTTGTACATTGATTTTGTATCCTGAGACTTTGCTGAAGACATTTA TGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAG AAATGCAAATCAAAACCACTATGAGATATCATCTCACACCATTTAGAATG GCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGA AATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCAT TGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCA TTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATC ATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCA CAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGG ATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAA AAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCA TCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTC TCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGG GAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGAT AGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCG CACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCAC ATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAA AAGAAATTAAGATGGCAAACAATAAAAAAAAAAAAAATAAAAATAAAAAA ATAAAAATGTAAGATAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGCTG GTATATCT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding		4997		chr2	TogoVar
FSHR_chr2_48957157_49159515	49159511	T T	TAGATATA others(1985): Show TAGATATACCAGCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTATC TTACATTTTTATTTTTTTATTTTTATTTTTTTTTTTTTTATTGTTTGCCA TCTTAATTTCTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTT AGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCC ATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCT CCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGT GTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACC TATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTAC TGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAAC TCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACAT TTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCT TTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTA TAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGC TGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTG ACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGT GTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTT AATGATTGCCATTCTAAATGGTGTGAGATGATATCTCATAGTGGTTTTGA TTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTT TTGGCTGCATAAATGTCTTCAGCAAAGTCTCAGGATACAAAATCAATGTA CAAAAATCACAAGCATTCTTATACACCAACAACAGACAAACAGAGAGCCA AATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACC TAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTAC AAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATGGAAGAACAT TCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCATACTGC CCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTACCAATGACT TTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAA AAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAG GCATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAA ACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAAC AGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACA AACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGG TGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTT CCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACG TTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATT CAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAAT GGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCT TCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAACA TGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAG AATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCA TCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0002 a0007c0005t0002	a0007c0005t0002g0018 a0007c0005t0002g0018	1	336	0.0030	1992	c.-50 others(2003): Show c.-5095_-5094insTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCC ACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCA TTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAAT TTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTG CTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCT TTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCC TATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTT TAGGTTTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTTTGTATAA GGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTT TTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTT TCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCT GAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGTA CCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTA GTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAATG CGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTC TGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTGTAAA TTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCCTACCCAT GAGCATGGAATGTTCTTCCATTTGTTTGTCTCCTCTTTTATTTCCTTGAG CAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGTT GGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCA CCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGAATGCTTG TGATTTTTGTACATTGATTTTGTATCCTGAGACTTTGCTGAAGACATTTA TGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAG AAATGCAAATCAAAACCACTATGAGATATCATCTCACACCATTTAGAATG GCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGA AATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCAT TGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCA TTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATC ATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCA CAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGG ATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAA AAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCA TCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTC TCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGG GAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGAT AGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCG CACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCAC ATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAG AAATTAAGATGGCAAACAATAAAAAAAAAAAAAATAAAAATAAAAAAATA AAAATGTAAGATAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGCTG GTATATCT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding		4997		chr2	TogoVar

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