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
NT5C1A_chr1_39646229_39677107	39664492	T T	TGTCTCCT others(919): Show TGTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCACCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCTT CCCCTTCCCCTCCCCTCCCCCTTCCCCCTCCCCTCCCCTCCCCCTTCCCC TCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCCCTTCCCTCTCCCCTTCC CCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCC TTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0230 a0001c0001t0006g0230	1	206	0.0049	926	c.433 others(943): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGGAGGG GAAGGGGAGAGGGAAGGGGGAGGGGGAGGGGAGGGGAAGGGGGAGGGGAG GGGAAGGGGGAGGGGAGGGGAGGGGGAAGGGGGAGGGGAGGGGAAGGGGA AGGGGGAGGGGAGGGGAGGGGAGAGGGGAGGGTGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAC	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(919): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGAGAGAAGGGGATGG GGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGGG AGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGG GAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGAG AGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAGAA GGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAG GGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAG GAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGG GGAGGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAG GGGGAGGAGGGGGAGAGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAG GGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAGAGAGAGGGCGAG AGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTGAGAG AGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCAAGAG AGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAGAGAGGGCGGGCG AGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAGAGAGAGGGTGGG CAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAG AGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAGGGCGAGAGGGAG AGAGAGGGAGAGGGCGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAG AAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0127 a0004c0005t0001g0127	1	24	0.0417	926	c.371 others(943): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTTTCTCTCCCTCTCGCCCTCTCCCTCTCTC TCCCTCTCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTC TTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGC CCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTC GCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCCTCTCTC TCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCCTCTCTC TCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCCTCTCTC TCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTCCTCCCCC TCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCTCTCCCCCTCCTCCCCC TCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCCC CCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCC TCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCTCCCCC TCCTCCACCTCTCCCCCTCTCCCCCTCCTCCCCCTCCCCTTCTCTCCCCT TCTCTCCCCTTCTCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTC TCCCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCC CCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTC CCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCC CATCCCCTTCTCTCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(919): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGA GAGGTGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGG GAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGG GGGAGAGGGGGAGGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGG GGAGAGGGGGAGGGGGAGGAGGGGGAGAGGGGAGGAGGGGGAGAGGGGGA GGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAG AGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAG GGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAG GGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAG AGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAG AGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAG AGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAG GGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGAAAGAGGGAGAG AAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0062 a0001c0062	a0001c0062t0001 a0001c0062t0001	a0001c0062t0001g0043 a0001c0062t0001g0043	1	24	0.0417	926	c.371 others(943): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCC TCTCACTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTC TCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTC TCTCTCACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTC TCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCC TCTCTTTCTCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCC TCTCTCTCTCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTC TTGCCCCTTCCCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCT CCCCCTCTCCCCCTCCTCCCCTCTCCCCCTCCTCCCCCTCCCCCTCTCCC CCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCC CTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCC CCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCACCTCT CCCCCTCTCCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTC TCTCCCCTTCTCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTC CCCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCC CCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCC CCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCC ATCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492423	C C	CTCCCGGG others(919): Show CTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGC CGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGA GACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGC CCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCG GGGAGACCCGAGGCCGCCCAGGGCCCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	276	0.0036	926	c.126 others(945): Show c.1265+3427_1265+3428insGGGAGACCCGAGGCCGCCCAGGGCCC TTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCC GCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAG ACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTTCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492460	G G	GGGGAGAC others(919): Show GGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCC AGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACC CGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCC TCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCC GCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGG AGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGG GCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCCCCCCGGGAGACCCG AGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTC CCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCCGAGGCCG CCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGA GACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGG CCCCCCCCGGGAGACCCGAGGCCGCCCAGAGCCTTCCCGGGAGACCCGAG GCCGCCCAGGGCCCCCCCCGGGAGACCCGAGGCCGCCCAGGGCCCCCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCC TTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGC CGCCCAGGGCCCCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGG AGACCCGAGGCCGTCCAGGGCCCCCCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0081 a0001c0001t0007g0081	1	167	0.0060	926	c.126 others(945): Show c.1265+3476_1265+3477insTCCAGAGCCCTCCCGGGAGACCCGAG GCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCG GGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCC AGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACC CGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCT TCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCC GCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCCCCCCGGG AGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGG GCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCC GAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCT CCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCG TCCAGGGCCCCCCCCGGGAGACCCGAGGCCGCCCAGAGCCTTCCCGGGAG ACCCGAGGCCGCCCAGGGCCCCCCCCGGGAGACCCGAGGCCGCCCAGGGC CCCCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCC AGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGAC CCGAGGCCGCCCAGGGCCCCCCCGGGAGACCCGAGGCCGTCCAGAGCCCT TCCCGGGAGACCCGAGGCCGTCCAGGGCCCCCCCGGGAGACCCGAGGCCG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(919): Show TATGTAATACACAATATACATTATATAATATGTAATACACAATATACATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATATGTAATACACAATATATA TTATATAATAATATGTAATACACAATATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAT GTAATACACAATATATTATATAATATGTAATACACAATATATTATATAAT AATATGTAATACACAATATATTATATAATAATATGTAATACACAATATAT TATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACATTATACATTATTATATAAGTATATGTAATACATTATACATTATTATA TAAGTATATGTAATATATATTATACATTATTATATAAGTATATGTAATAT ATATTATACATTATTATATAAGCATATAATATATAATACATAATACATTA TATATAAGCATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0121 a0001c0001t0023g0121	1	19	0.0526	926	c.24+ others(943): Show c.24+14101_24+14102insATGTAATACACAATATACATTATATAAT ATGTAATACACAATATACATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATATGTAATACACAATATATATTATATAATAATATGTAATACACAATATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATATGTAATACACAATATATTATATAATATGTA ATACACAATATATTATATAATAATATGTAATACACAATATATTATATAAT AATATGTAATACACAATATATTATATAATAATATGTAATACACAATATAT TATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACATTATACATTATTATATAAGTATATGT AATACATTATACATTATTATATAAGTATATGTAATATATATTATACATTA TTATATAAGTATATGTAATATATATTATACATTATTATATAAGCATATAA TATATAATACATAATACATTATATATAAGCATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(919): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACATTATACATTATTATA TAAGTATATGTAATACATTATACATTATTATATAAGTATATGTAATATAT ATTATACATTATTATATAAGCATATGTAATATATATTATACATTATTATA TAAGCATATAATATATAATACATAATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	19	0.0526	926	c.24+ others(943): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACATTATACATTATTATATAAGTATATGTAATACATTATACATTATT ATATAAGTATATGTAATATATATTATACATTATTATATAAGCATATGTAA TATATATTATACATTATTATATAAGCATATAATATATAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
SDHA_chr5_213320_262082	261646	A A	AGAGCATT others(919): Show AGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAG CTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGACAGAG CATTACCGTGTGAGCTCCGCCCCCCGTCAGAGCATTACCGTGTGAGCTCC GCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATT ACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCT CCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCG TGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCG TCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTG AGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCT CCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCA TTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGC CTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCCGCAGAGCATTAC CGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCC CGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTG TGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGC AGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAG CTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAG CATTACCGTGTGAGCTCCGCCTCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	219	0.0046	926	c.52 others(937): Show c.5226_*5227insGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGA GCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTC CGCCCCCCGACAGAGCATTACCGTGTGAGCTCCGCCCCCCGTCAGAGCAT TACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCC TCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACC GTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCC GTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGT GAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCA CAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGC TCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGC ATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCG CCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTC CCCGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGT GTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGG CAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGA GCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGA GCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTC CGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4565		chr5	TogoVar
SDK1_chr7_3296252_4274000	3977260	C C	CCACGCAG others(919): Show CCACGCAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACTGGGG GTCCCGGGGCTGAGGCTGCCACACAGAGGGCCCTCCAGAGAATCACTGAG GGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGG GGGTCCCGGGGCTGAGGCTGCCACACAGGGGGCCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GGGGGTCCCGGGGCTGAGGCTGCCACACAGGGGGCCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAGAGGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTC CAGAGAATCACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0025 a0025	a0025c0081 a0025c0081	a0025c0081t0008 a0025c0081t0008	a0025c0081t0008g0075 a0025c0081t0008g0075	1	96	0.0104	926	c.199 others(945): Show c.1994+2715_1994+2716insCACGCAGACGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACGCAGAC GGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGA GGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG AGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACA GGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGC AGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACA CAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGA GGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SLC5A8_chr12_101150493_101215238	101180717	T T	TAAAAAAA others(919): Show TAAAAAAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCAATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAG AAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGA TGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTC TCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTC ATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATAT CACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATT GGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAG CATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAATAATAATAATAATA ATAATAATTTAAGATGTACATATATTCCATCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	371	0.0027	926	c.116 others(943): Show c.1166-622_1166-621insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGATGGAATATATGTACATCTTAAATTATTATT ATTATTATTATTATTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGG TACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGC TGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCA ATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGA TATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATG AGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAG AATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCAT CATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTC TTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGC TATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGC AGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGG TCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATTGCCACACTGACTT CCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTC CTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATG ATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTG CATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGG CTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTTTTT	SLC5A8	ENSG00000256870.3	transcript	ENST00000536262.3	protein_coding	9/14			chr12	TogoVar
TH_chr11_2158929_2176815	2161948	C C	CACCCCTG others(919): Show CACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCT ATCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCA CACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCC TGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCA CACCCCTGTCCCCCGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCC TGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCCGGACCCC TGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCC TGTCCCCAGACCCCTATCCCCAGACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGGACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTA TCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACA CCCCTGTCCCCAGGACCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0038 a0001c0009t0001g0038	1	12	0.0833	926	c.22 others(937): Show c.2284_*2285insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC TGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCTGGGGATAGGGGTCTGGGGACAGGGGTCC TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCC GGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGT GGGGACAGGGGTCCTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGAT AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGT GGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTG TGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		1980		chr11	TogoVar
TMC6_chr17_78102397_78133755	78115744	G G	GGCGAAGG others(919): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCAGAGAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAG CGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGA GTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCAC AGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGA AGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTG GGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGG GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0137 a0002c0002t0010g0137	1	415	0.0024	926	c.227 others(945): Show c.2277+1524_2277+1525insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTCTCTG CCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCC CTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCC CTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCC ACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTT CGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM192_chr4_165065608_165117860	165116330	T T	TAGTTCAG others(919): Show TAGTTCAGCATTTTTTTTTTTTCTTTTGAGACTCAGTCTTGCTTTGTGGT CCAGGCTGGAGTGCAGTGGCATGGTCTCAGCTCACTGCTACCTCCACCTC CCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTAC AGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAAAGGCGA CATTCCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGAT CTGCCCACCTCTACTTTCAAAAGTGCTGGGATTACAGGCATGAGCCACCA CTCCTGGCCAGCAATTTTTTTCTTCTGCAGTTTGAAAATTTTCAAAATAA AGTCAAAAGGGAAAAGATAGGCTAAAGAGCTTGCTTACACTTTAGGGTAG GAATAATCTGTGATTGCCTGGTATAAGCCAGAAGAAAGAAATGGTATCAG GAAATAGAATTCTGAACTTTACAAGGTTTAATAGAAGGAGATTGGTGGAG CTGGAGAGTGAGGTTGTCAGACGGAGAGGTGCAATTCAGTAGGAGACCTT GACCACTGGGAAAAATGATGAGTGGGAGAAAAGGATGTTCTCTGAAAAAT CATGGGTGACTCTACAGAAGGAAGAAGGGGAACAAGATCCACTTTGTCTT ACCATTTGGTTTAGACCTTGTCTTGCAAGAATAGGTGCTATTTCATGTTT AGTGTGTTCAGGTGAAAAGTTAAAGGAAAGTATATAATTGCCACTAAAAG TCATCCATATTCTTTCTCAGGGAATATATGCAGAAACAATGGGTTAGGTG CAGGAATAGGATTCTGTGGAACTCTGTCCAAAATGTACCCCTCCTCGCAA TATATTTGTTTAGTACTTCAGGCATAGATAATATACAGGAATTAAAACTT AGTCCACACAGGGAAATAGTATTTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0209 a0001c0002t0002g0209	1	54	0.0185	926	c.-35 others(937): Show c.-3558_-3557insTTTAAATACTATTTCCCTGTGTGGACTAAGTTTT AATTCCTGTATATTATCTATGCCTGAAGTACTAAACAAATATATTGCGAG GAGGGGTACATTTTGGACAGAGTTCCACAGAATCCTATTCCTGCACCTAA CCCATTGTTTCTGCATATATTCCCTGAGAAAGAATATGGATGACTTTTAG TGGCAATTATATACTTTCCTTTAACTTTTCACCTGAACACACTAAACATG AAATAGCACCTATTCTTGCAAGACAAGGTCTAAACCAAATGGTAAGACAA AGTGGATCTTGTTCCCCTTCTTCCTTCTGTAGAGTCACCCATGATTTTTC AGAGAACATCCTTTTCTCCCACTCATCATTTTTCCCAGTGGTCAAGGTCT CCTACTGAATTGCACCTCTCCGTCTGACAACCTCACTCTCCAGCTCCACC AATCTCCTTCTATTAAACCTTGTAAAGTTCAGAATTCTATTTCCTGATAC CATTTCTTTCTTCTGGCTTATACCAGGCAATCACAGATTATTCCTACCCT AAAGTGTAAGCAAGCTCTTTAGCCTATCTTTTCCCTTTTGACTTTATTTT GAAAATTTTCAAACTGCAGAAGAAAAAAATTGCTGGCCAGGAGTGGTGGC TCATGCCTGTAATCCCAGCACTTTTGAAAGTAGAGGTGGGCAGATCACTT GAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGGAATGTCGCCTT TACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAATCC CAGCTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGG AGGTAGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGACCACAA AGCAAGACTGAGTCTCAAAAGAAAAAAAAAAAATGCTGAACT	TMEM192	ENSG00000170088.14	transcript	ENST00000306480.11	protein_coding		3471		chr4	TogoVar
TMEM192_chr4_165065608_165117860	165116330	T T	TAGTTCAG others(919): Show TAGTTCAGCATTTTTTTTTTTTCTTTTGAGACTCAGTCTTGCTTTGTGGT CCAGGCTGGAGTGCAGTGGCATGGTCTCAGCTCACTGCTACCTCCACCTC CCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTAC AGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAAAGGCGA CGTTCCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGAT CTGCCCACCTCTACTTTCAAAAGTGCTGGGATTACAGGCATGAGCCACCA CTCCTGGCCAGCAATTTTTTTCTTCTGCAGTTTGAAAATTTTCAAAATAA AGTCAAAAGGGAAAAGATAGGCTAAAGAGCTTGCTTACACTTTAGGGTAG GAATAATCTGTGATTGCCTGGTATAAGCCAGAAGAAAGAAATGGTATCAG GAAATAGAATTCTGAACTTTACAAGGTTTAATAGAAGGAGATTGGTGGAG CTGGAGAGTGAGGTTGTCAGACGGAGAGGTGCAATTCAGTAGGAGACCTT GACCACTGGGAAAAATGATGAGTGGGAGAAAAGGATGTTCTCTGAAAAAT CATGGGTGACTCTACAGAAGGAAGAAGGGGAACAAGATCCACTTTGTCTT ACCATTTGGTTTAGACCTTGTCTTGCAAGAATAGGTGCTATTTCATGTTT AGTGTGTTCAGGTGAAAAGTTAAAGGAAAGTATATAATTGCCACTAAAAG TCATCCATATTCTTTCTCAGGGAATATATGCAGAAACAATGGGTTAGGTG CAGGAATAGGATTCTGTGGAACTCTGTCCAAAATGTACCCCTCCTCGCAA TATATTTGTTTAGTACTTCAGGCATAGATAATATACAGGAATTAAAACTT AGTCCACACAGGGAAATAGTATTTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00558.hp2 others(43): Show HG00099.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01255.hp1 HG01261.hp1 HG01928.hp2 HG02015.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02300.hp2 HG02622.hp2 HG02723.hp1 HG03491.hp1 HG04228.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18959.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18987.hp1 NA18993.hp2 NA19000.hp1 NA19007.hp2 NA19010.hp2 NA19043.hp1 NA19060.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19082.hp2 NA19086.hp2 NA19091.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(22): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019 a0001c0001t0066 a0001c0001t0093 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0002t0016 a0001c0002t0017 a0001c0002t0028 a0001c0002t0029 a0001c0002t0031 a0001c0002t0042 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0002t0068 a0001c0002t0073 a0001c0002t0079 a0001c0002t0108	a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0008g0309 others(41): Show a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0008g0309 a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0233 a0001c0001t0011g0242 a0001c0001t0011g0268 a0001c0001t0019g0235 a0001c0001t0019g0236 a0001c0001t0019g0237 a0001c0001t0066g0240 a0001c0001t0093g0234 a0001c0002t0002g0007 a0001c0002t0002g0208 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0221 a0001c0002t0002g0226 a0001c0002t0003g0008 a0001c0002t0003g0224 a0001c0002t0003g0303 a0001c0002t0004g0223 a0001c0002t0006g0211 a0001c0002t0010g0205 a0001c0002t0010g0206 a0001c0002t0010g0239 a0001c0002t0016g0213 a0001c0002t0016g0228 a0001c0002t0017g0222 a0001c0002t0017g0225 a0001c0002t0017g0227 a0001c0002t0028g0212 a0001c0002t0029g0220 a0001c0002t0031g0238 a0001c0002t0042g0217 a0001c0002t0058g0229 a0001c0002t0059g0218 a0001c0002t0060g0219 a0001c0002t0068g0230 a0001c0002t0073g0315 a0001c0002t0079g0207 a0001c0002t0108g0210	46	99	0.4646	926	c.-35 others(937): Show c.-3558_-3557insTTTAAATACTATTTCCCTGTGTGGACTAAGTTTT AATTCCTGTATATTATCTATGCCTGAAGTACTAAACAAATATATTGCGAG GAGGGGTACATTTTGGACAGAGTTCCACAGAATCCTATTCCTGCACCTAA CCCATTGTTTCTGCATATATTCCCTGAGAAAGAATATGGATGACTTTTAG TGGCAATTATATACTTTCCTTTAACTTTTCACCTGAACACACTAAACATG AAATAGCACCTATTCTTGCAAGACAAGGTCTAAACCAAATGGTAAGACAA AGTGGATCTTGTTCCCCTTCTTCCTTCTGTAGAGTCACCCATGATTTTTC AGAGAACATCCTTTTCTCCCACTCATCATTTTTCCCAGTGGTCAAGGTCT CCTACTGAATTGCACCTCTCCGTCTGACAACCTCACTCTCCAGCTCCACC AATCTCCTTCTATTAAACCTTGTAAAGTTCAGAATTCTATTTCCTGATAC CATTTCTTTCTTCTGGCTTATACCAGGCAATCACAGATTATTCCTACCCT AAAGTGTAAGCAAGCTCTTTAGCCTATCTTTTCCCTTTTGACTTTATTTT GAAAATTTTCAAACTGCAGAAGAAAAAAATTGCTGGCCAGGAGTGGTGGC TCATGCCTGTAATCCCAGCACTTTTGAAAGTAGAGGTGGGCAGATCACTT GAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGGAACGTCGCCTT TACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAATCC CAGCTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGG AGGTAGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGACCACAA AGCAAGACTGAGTCTCAAAAGAAAAAAAAAAAATGCTGAACT	TMEM192	ENSG00000170088.14	transcript	ENST00000306480.11	protein_coding		3471		chr4	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(919): Show ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCTACAC ACACCACACACCCCACACACACATCACACACCACACACACCACACACACC CCACACACACCACACACACACATCACATACCACACACCCGACACACGCCA CACACACACCACACACCCCACGCACACATCACATACCACACACAAACCAC ACACCCTACACACACCACACACCCCACACACACCACACACACACACCACA CACACATCACATACCACACACAAACCACACACCCAACACACACATCACAC ACCACACACCCCACACACACATCACATACCACACACAAACCACACACCCC ACACACACATCACATACCACACACAAACCACACACCCCCACACACCCCAC ACACCCCACACACACCACACACCCCACACACACACCACACACCCCACACA CACATCACATACCACACACAAACCACACACCCCACACACCCCACACACCA CACACACACCACACACACATCACATACCACACACAAACCACACACCCTAC ACACACCACACACCCCACACACACCACACACCCGACACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	35	0.0286	926	c.35 others(945): Show c.35+22426_*35+22427insCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCTACACACACCACACACCCCACACACACATCACACACCACACACA CCACACACACCCCACACACACCACACACACACATCACATACCACACACCC GACACACGCCACACACACACCACACACCCCACGCACACATCACATACCAC ACACAAACCACACACCCTACACACACCACACACCCCACACACACCACACA CACACACCACACACACATCACATACCACACACAAACCACACACCCAACAC ACACATCACACACCACACACCCCACACACACATCACATACCACACACAAA CCACACACCCCACACACACATCACATACCACACACAAACCACACACCCCC ACACACCCCACACACCCCACACACACCACACACCCCACACACACACCACA CACCCCACACACACATCACATACCACACACAAACCACACACCCCACACAC CCCACACACCACACACACACCACACACACATCACATACCACACACAAACC ACACACCCTACACACACCACACACCCCACACACACCACACACCCGACACA CGCCACACACACACCACACACCCCACGCACACATCACATACCACACACAA ACCACACACCCTACACACCCCACACACCCCACACACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(919): Show TATAATAATATAATATATATTATTATATGTTATTATATATAATAATATAA TATATATTATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATAATATAATATATATTATTATATGTTATTATATA TTATAATATATATTATTATATGTTATTATATATAATAATATATATTATTA TATGTTATTATATATAATAATATATATTATTATATGTTATTATATATAAT AATATATATTATTATATGTTATTATATATAATAATATAATATATATTATT ATATGTTATTATATATAATAACATATTATATATTATGTTATTATATATAA TAACATAATATATATTATATGTTATTATATATAATAACATAATATATATT ATTATATGTTATTATATATAATAACATAATATATATTATTATATGTTATT ATATATAATAACATAATATATATTATTATATGTTATTATATATAATAACA TAATATATATTATTATATGTTATTATATATAATAACATAATATATATTAT TATATGTTATTATATATAATAATATAATATATATTATTATATGTTATTAT ATATAATAATATAATATATATTATTATGTTATTATATATAATAATATATA TTATATTATTATATGTTATTATATATAATAATATAATATATATTATTATA TGTTATTATATATAATATATATTATATTATATATAATAATATAATATATA TTATATTATTATATATAATAATATAATATATATTATTATATATTATATAT TATTATATATAATATATATATAATTATATTATTATATATTATTATATATA ATATATATAATTATATATATATTATATATATTATATATAATAATAATATA TATAATTATATATATTATATATAATAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0206 a0002c0003t0001g0206	1	99	0.0101	926	c.392 others(943): Show c.392+6154_392+6155insTTATTATATATAATATATATAATTATAT ATATTATTATTATATATAATATATATAATATATATATAATTATATATATT ATATATAATAATATATAATAATATAATTATATATATATTATATATAATAA TATATAATATATAATAATATATATTATATTATTATATATAATAATATAAT ATATATTATATTATTATATATAATATAATATATATTATATATAATAACAT ATAATAATATATATTATATTATTATATATAATAACATATAATAATATAAT ATATATTATTATATATAATAACATAATAATATATATTATATTATTATATA TAATAACATATAATAATATATATTATATTATTATATATAATAACATATAA TAATATATATTATGTTATTATATATAATAACATATAATAATATATATTAT GTTATTATATATAATAACATATAATAATATATATTATGTTATTATATATA ATAACATATAATAATATATATTATGTTATTATATATAATAACATATAATA ATATATATTATGTTATTATATATAATAACATATAATATATATTATGTTAT TATATATAATAACATAATATATAATATGTTATTATATATAATAACATATA ATAATATATATTATATTATTATATATAATAACATATAATAATATATATTA TTATATATAATAACATATAATAATATATATTATTATATATAATAACATAT AATAATATATATTATTATATATAATAACATATAATAATATATATTATAAT ATATAATAACATATAATAATATATATTATATTATTATATATAATAACATA TAATAATATATATTATATTATTATATATAATAACATATAATAATATATAT TATATTATTATATATAATAACATATAATAATATATATTATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ABCB5_chr7_20610667_20762008	20668924	A A	AGGAAGTG others(920): Show AGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGG AGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGG AGGGGGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGAG AGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAG GGGGGTGGAGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCACCT GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGCGGAGGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCCCCCCCCCCGGCCGGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0086 a0007c0011t0001g0086	1	293	0.0034	927	c.170 others(948): Show c.1707+10331_1707+10332insAGTCCGGGAGGGAGGGAGGGAGGT GGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGT GGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGAGAGGGAGGT GGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGGGGTGG AGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAG CCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCACCTGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGG AGGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCCCCCCCCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABR_chr17_998519_1184981	1119319	C C	CCCAGCAT others(920): Show CCCAGCATTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCCCTGAGCCC GAGTTCCTCCCAGCATTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCC CTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAG CGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGT TCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGA GCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTA TCCCTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCTGAGTCCCTC CCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTG AGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCC TGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGC GTTATCGCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTC TTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGC CTGAGTTCCCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTAT CCCTGAGCCTGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCC CAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGA GTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCT GAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGT TATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTC CCAGCGTTAACCCTGAGCCTGAGTTCCT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02738.hp1 HG03834.hp1 HG02135.hp2 HG02738.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0084 a0001c0001t0002g0171 a0001c0001t0007g0334 a0001c0001t0002g0084 a0001c0001t0002g0171 a0001c0001t0007g0334	3	302	0.0099	927	c.246 others(944): Show c.246+5863_246+5864insAGGAACTCAGGCTCAGGGTTAACGCTGG GAGGACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATA ACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTC AGGGATAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAC TCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTG GGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAACTCAGGCTCAGGG ATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGGGGAACTCAG GCTCAGGGATAACGCTGGGGAGGACTCAGGCTCAGGGATAACGCTGGGAA GAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGCGATAAC GCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCA GGGATAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACT CAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTGG GAGGGACTCAGGCTCAGGCAATAACGCTGGGAGGGACTCAGGCTCAGGGA TAACGCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGC TCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTGGGGAGA ACTCAGGCTCAGGGATAACGCTGGGGAGGAACTCGGGCTCAGGGATAACG CTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAG GGATAACGCTGGGAGGAACTCGGGCTCAGGGATAATGCTGGGAGGAACTC GGGCTCAGGGATAACGCTGGGAGGAACTCGGGTTCAGGGATAATGCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(920): Show TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTG TGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCC CGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATC TGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCT TCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGGG TGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCT CCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGTA TCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGGG CTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGG GGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGATGTGGGGG CGTCTGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGCGGG TATCTGGGGGCGTCTGCAGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGG GGCATCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCG GGGGTGTGGGGTCTCCCGTGGGTATCTGGGGGCGTCTGCGGGGGTGTGGG GGCTCCCGCGGGTATCTGGGGGCTTCTGCAGGGGTGTGGGGGCGTCCGCG GGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCTCCCGTGGGTATCTGGG GGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGGCTTCCGCG GGGGTGTGGGGGCGTCCGCGGGTATCTG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	21	0.0476	927	c.539 others(942): Show c.539+384_539+385insCAGATACCCGCGGACGCCCCCACACCCCCG CGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCC CAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCG CGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGGAGCCCC CACACCCCCGCAGACGCCCCCAGATACCCACGGGAGACCCCACACCCCCG CGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGATGCCCC CCCAGATACCCACGGGAGCCCCCACACCCCTGCAGACGCCCCCAGATACC CGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCAGACGCC CCCACATCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCC CGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGAAGCC CCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGAAGCCCCCAGATA CCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCACGGGAG CCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACC CCTGCAGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGAAG CCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGACGCCCCCCCAGA TACCCACGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGG AGCCCCTACACCCCCGCAGACGCCCCCAGATACCCGCGGACGCCCCCACA CCCCCGCGGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGA CGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(920): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGGG GAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAGA GGGAGAGGATGAAGGGGAAGGGGGAAAACAGAGGGAGAGGATGAAGGGGA AGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGAG GGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGAA GGGGGATGGGGAAGGGGGATGGGGGTGGGGAAGGGGGAGGGGGAGGGGAT GGGGAGGGGGGAGGGGGAGGGGATGGGGAGGGGGGAGGGGAGGGGGATAG GGAAGGGGGATGGGGTGGGGAAGGGGGAGGGGAGGGGGAGGGGAAGGGGA AGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATG GGGAAGGGGGGAAGGGGGATGAGGAAGGGGGAAGGGGGATGGGGAAGGGG GATAGGGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGGGGAAGG GGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGGAAGGGGG ATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGG GGATGGGGAAGGGGGAAGGTCGATGGGGAAGGGGGATGGGGAAGGGGGAT GGGGAAGGGGGATGGGGAAGAGGAGATGGGGAAGGGGGGATGGGGAAGGG GGATGGGGAAGGGGAGGGGGAGGGGGAAGGGGAGGGGGAGGGGGAAGGGG GATGGGGAGGGGGAGGAGGAAGGGGGAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00741.hp1 others(4): Show HG00639.hp1 HG00642.hp1 HG00741.hp1 HG01517.hp2 HG01981.hp1 HG02602.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0080 a0001c0001t0001g0109 a0001c0001t0001g0157 others(4): Show a0001c0001t0001g0080 a0001c0001t0001g0109 a0001c0001t0001g0157 a0001c0001t0001g0179 a0001c0001t0001g0191 a0001c0001t0001g0204 a0002c0002t0001g0011	7	9	0.7778	927	c.787 others(942): Show c.787-617_787-616insATCCCCCTTCCTCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCCCC CTTCCCCATCCCCCCTTCCCCATCTCCTCTTCCCCATCCCCCTTCCCCAT CCCCCTTCCCCATCCCCCTTCCCCATCGACCTTCCCCCTTCCCCATCCCC CTTCCCCATCCCCCTTCCCCATCCCCCTTCCCCATCCCCCTTCCCCATCC CCCTTCCCCCCTTCCCCATCCCCCTTCCCCATCCCCCTTCCCCATCCCCC TTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCTATCCC CCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCTTCCCCCCTTCCCCA TCCCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTC CCCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCACCCCATCCCCCTTCCCT ATCCCCCTCCCCTCCCCCCTCCCCATCCCCTCCCCCTCCCCCCTCCCCAT CCCCTCCCCCTCCCCCTTCCCCACCCCCATCCCCCTTCCCCATCCCCCTT CGCCTCCCCCTCCCCTCCACCTCCCCATCCCCTCCACCTCCCCATCCCCT CCACGTCCCCCTCCCCTCCAACCTCCCCCTCCCCTCCAACCTCCCCCTTC CCCTTCATCCTCTCCCTCTGTTTTCCCCCTTCCCCTTCATCCTCTCCCTC TGTTTTCCCCCTTCTCTTTCCCCTCCCCTTCCCCTCCCCTTTCTCCTCCC CTTCCATTCCCGTTTCTCCTCCCTTTCCCCTCCCCTTTCCCCTCCCCTTC CCCTCCCCTTTTGCCTCCCATTTCCCCTCCCGTTTCCCCTCCCCTTTTTT CTCTCCCCTTTTTCCTCTCCTTTTTCCCTCTCCCTCCTCCCCTCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCC others(920): Show AGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGC CAGCCCCGTCCAGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	299	0.0033	927	c.36 others(938): Show c.3611_*3612insGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
BACE1_chr11_117280698_117321256	117319367	G G	GAAAAAAA others(920): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAGAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA AAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	398	0.0025	927	c.-35 others(938): Show c.-3573_-3572insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTCTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTT TTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	BACE1	ENSG00000186318.18	transcript	ENST00000313005.11	protein_coding		3112		chr11	TogoVar
C4orf19_chr4_37448925_37598510	37585521	A A	ATGTTGAG others(920): Show ATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGA GAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGG GGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTT GAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGA GAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGG GGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGG AGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGT GTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGA GGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGG AGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGA GGGAGGGGAGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAG ATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGA GAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGG GGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTT GAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGA GAGGTATTGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGG GGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGG AGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGT GTTGAGGGAGGGGAGGGGAGAGGAGAGG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0132 a0001c0001t0011g0132	1	142	0.0070	927	c.-22 others(944): Show c.-22-3297_-22-3296insATGTTGAGGGAGGGGAGGGGAGAGGAAA GGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGG AGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAG GGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAAATGT TGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGG AGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAG GGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGG GAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGG TATTGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAG AGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGG GAGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGA GGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGA GGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGG AGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAG GGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTAT TGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGG AGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAG GGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGG GAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(920): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCCCTTCCTCCCCCTCCCCCCCTTCCTCCCCCTCCCCCCCTTC CTCCCCCTCCCCCCCTTCCTCCCCCTCCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCT TCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCC CCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCC TCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTC CTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0170 a0001c0003t0001g0170	1	2	0.5000	927	c.162 others(948): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCCTTCCTCCCCCTCCCCCC CTTCCTCCCCCTCCCCCCCTTCCTCCCCCTCCCCCCCTTCCTCCCCCTCC CCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCT CCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCC TCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCC CTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCT CCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTC CACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCT CTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC CCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL5A1_chr9_134636803_134849843	134714529	C C	CTGGTGAT others(920): Show CTGGTGATGGTAGTCATAGAGGTGATGGTGGTGGTGGTGATGGTGGTGGT GGAAGTGATGATGGTGGTGGTGATACTTGTGGAGGTGGTGGTGAAGGTGA TGGTGGTGATGATGGTGGTGGTGGTGGTGATGCTGGTGAAGATGGTGATG GTGGTGATGGTGGTGATGGTGGTGGTGATGCTGGTGATGGTAGTCATAGA GGTGATGGTGGTGGAGGTGATGGTGGTGATGGTGTTGCTTGTGGAGGTGG TGGTGAAGGTAATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGCTGGTG ATGGTAGTTGTAGAGGTGATGGTGGTGGTGGAGGTGATGATGGTGGTGGT GATACTTGTGGAGGTGGTGGTGAAGGTGATGGTGGTGATGATGGTGGTGG TGGTGATGCTGGTGAAGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTG ATGCTGGTGATGGTAGTCGTAGAGGTGATGGTGTTGGTGGAGGTGATGGT GGTGATGGTGATGCTTGTGGAGGTGGTGGTGAAGGTGATGGTGGTGATGG TGGTGATGGTGGTGGTGGTGGTGATGCTGGTGATGGTAGTCGTAGAGGTG ATGGTGGTGGTGGAGGTGATGGTGGTGATGGTGATGCTTGTGGAGGTGGT GGTGAAGGTGATGGTGGTGATGATGGTGGTGGCGGTGGTGGTGGTGATGC TGGTGAAGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGCTGGTGATG GTAGTCATAGAGGTGATGGTGGTGGTGGAGGTGATGGTGGTGATGGTGAT GCTTGTGGAGGTGGTGGTGAAGGTGATGGTGGTGATGCTGGTGAAGGTGG TGATGGTGGTGATGGTGGTGGTGGAGGTGATGGTGGTGATGGTGATGCTT GTGGAGGTGGTGGTGAAGGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0001 a0001c0003t0002g0001	2	270	0.0074	927	c.655 others(946): Show c.655-12735_655-12734insGTGATGGTAGTCATAGAGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGAAGTGATGATGGTGGTGGTGATACTTG TGGAGGTGGTGGTGAAGGTGATGGTGGTGATGATGGTGGTGGTGGTGGTG ATGCTGGTGAAGATGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGAT GCTGGTGATGGTAGTCATAGAGGTGATGGTGGTGGAGGTGATGGTGGTGA TGGTGTTGCTTGTGGAGGTGGTGGTGAAGGTAATGGTGGTGATGGTGGTG GTGGTGGTGGTGATGCTGGTGATGGTAGTTGTAGAGGTGATGGTGGTGGT GGAGGTGATGATGGTGGTGGTGATACTTGTGGAGGTGGTGGTGAAGGTGA TGGTGGTGATGATGGTGGTGGTGGTGATGCTGGTGAAGGTGGTGATGGTG GTGATGGTGGTGGTGGTGGTGATGCTGGTGATGGTAGTCGTAGAGGTGAT GGTGTTGGTGGAGGTGATGGTGGTGATGGTGATGCTTGTGGAGGTGGTGG TGAAGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGCTG GTGATGGTAGTCGTAGAGGTGATGGTGGTGGTGGAGGTGATGGTGGTGAT GGTGATGCTTGTGGAGGTGGTGGTGAAGGTGATGGTGGTGATGATGGTGG TGGCGGTGGTGGTGGTGATGCTGGTGAAGGTGGTGATGGTGGTGATGGTG GTGGTGGTGATGCTGGTGATGGTAGTCATAGAGGTGATGGTGGTGGTGGA GGTGATGGTGGTGATGGTGATGCTTGTGGAGGTGGTGGTGAAGGTGATGG TGGTGATGCTGGTGAAGGTGGTGATGGTGGTGATGGTGGTGGTGGAGGTG ATGGTGGTGATGGTGATGCTTGTGGAGGTGGTGGTGAAGGTGATGGTGGT G	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(920): Show GCTATAACCACCACCACCACCACCATTATCACCATCACCACCACACACCA CAACTACCACCACCACCACCATCACCACTATAACCACTAGCACCACCACT ACTATAACCATCACCACCGCTATAACCACCATCACCACCACCACTACCAC TACTATAACCATCACCACCACCACTGCTATAACCATCACCACTACCACTA CTACCACTACTACAACCATTACCACCATCACTGCTATAACCACCACCACC ACCACTATAACCATCACCACCATCACCACTATAACCACCACTACCACCAC CACCACTATAACCACCACCACCACCACTATAACCACCATCATCATCACCA CCACTACCACTACTACAACCATTACCACCATCACCACTATAACCACCACT ACCACCACCACCACTATAACCACCACCACCACCACTATAACCACCATCAT CATCACCACCACTACCACTACTACAACCATTACCACCATCACTGCTATAA CCACCACCACCATTATAACCATCACCACCACCACTATAACCACCATCATC ATCACCACCACTACCACTACTATAACCATTACCACCATTACTACTATAAC CACCACCACCACCACCACCACCACTATAATCATTACCACTATAACCACCA CTACCACCACTACCACTATGATAACCATCACCAACACCACTATAACCACC AATGCCAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGACCAACCAGG GATAGGACCAACCAGGACCAACCAGGACCAACACCACCACCACTACTACC ACTACTATAACCATCACCACCATCACTGCTATAATCACCACCACCACCAT CACTATAATCATCACCATCATCACCACTATAACCACCACCACCACCACCA CCACCAGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0037 a0001c0003t0001g0037	1	83	0.0120	927	c.724 others(946): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAG TGATGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATAGTA GTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTCCTA TCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTGGCA TTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGTGGT AGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGGTGG TGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGTAGTGGTGGTG ATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGTGGT GGTTATAGCAGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTGGTGGTGA TGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTG GTAGTGGTGGTTATAGTGGTGATGGTGGTAATGGTTGTAGTAGTGGTAGT GGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGG TGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTG GTGGTGGTGGTGGTTATAGCAGTGATGGTGGTAATGGTTGTAGTAGTGGT AGTAGTGGTAGTGGTGATGGTTATAGCAGTGGTGGTGGTGATGGTTATAG TAGTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATA GTAGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGTGGTAGT TGTGGTGTGTGGTGGTGATGGTGATAATGGTGGTGGTGGTGGTGGTTATA G	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
EXD3_chr9_137301896_137428162	137348511	G G	GGCTAGAT others(920): Show GGCTAGATAGAGAGGGGTGGGGATCACAAGGAAGGTGCTAGATAGAGAGG GGTGGGGATCACAAGGAGGGGGTTAGATAGAGAGGGGTGGGGATCACGAG GAAGGTGCTAGATAGAGAGGGGTGAGGATCACAAGGAGGGGGTTAGACAG AGAGGGGTGGGGATCATGGGGAGGGGGGCTAGATAGAGAGGGGTGGGGAT CACGGGGAGGGGGCTAGATAGAGAGGGGTGGGGATCACAAGGAAGGTGCT AGATAGAGAGGGGTGGGGATCACAAGGAGGGGGTTAGATAGAGAGGGGTG GGGATCACGAGGAAGGTGCTAGATAGAGAGGGGTGAGGATCACAAGGAGG GGGTTAGACAGAGAGGGGTGGGGATCATGGGGAGGGGGCTAGATAGAGAG GGGTGGGGATCACGGGGAGGGGTTAGATAGAGAGGGGAGGGGGAGGGGGC TAGATAGAGAGGGGTGGGGATCACGGGGAGGGGTTAGATAGAGAGGGGAG GGGGAGGGGGCTAGATAGAGAGGGGTGGGGATCACGAGGAGGGGCTAGAT AGAGAGGGGTGGGGATCACGGGGAGGGTTCTAGATAGAGAGGGGTGGGGA TCACGGGGAAGGTTCTAGATAGAGAGGGATGGGGATCACGGGGAAGGTTC TAGATAGAGAGGGGTTGGGATCACGGGGAAGGTTCTAGATAGAGAGGGAT GGGGATCACGGGGAAGGTGCTAGATAGAGAGGGGTGGGGATTACGGGGAG AGAGCTAGATAGAGAGGGGTGGGGATCACGGGGAAGGTTCTAGATAGAGA GGGATGGGGATCACGGGGAAGGTGCTAGATAGAGAGGGGTGGGGATTACG GGGAGAGAGCTAGATAGAGAGGGGTGGGGATCACGGGGAGGGGGCTAGAT AGAGAGGGGTGGGGATCACAAGGAAGGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0031 a0031	a0031c0034 a0031c0034	a0031c0034t0001 a0031c0034t0001	a0031c0034t0001g0067 a0031c0034t0001g0067	1	12	0.0833	927	c.183 others(944): Show c.1831-274_1831-273insACCTTCCTTGTGATCCCCACCCCTCTCT ATCTAGCCCCCTCCCCGTGATCCCCACCCCTCTCTATCTAGCTCTCTCCC CGTAATCCCCACCCCTCTCTATCTAGCACCTTCCCCGTGATCCCCATCCC TCTCTATCTAGAACCTTCCCCGTGATCCCCACCCCTCTCTATCTAGCTCT CTCCCCGTAATCCCCACCCCTCTCTATCTAGCACCTTCCCCGTGATCCCC ATCCCTCTCTATCTAGAACCTTCCCCGTGATCCCAACCCCTCTCTATCTA GAACCTTCCCCGTGATCCCCATCCCTCTCTATCTAGAACCTTCCCCGTGA TCCCCACCCCTCTCTATCTAGAACCCTCCCCGTGATCCCCACCCCTCTCT ATCTAGCCCCTCCTCGTGATCCCCACCCCTCTCTATCTAGCCCCCTCCCC CTCCCCTCTCTATCTAACCCCTCCCCGTGATCCCCACCCCTCTCTATCTA GCCCCCTCCCCCTCCCCTCTCTATCTAACCCCTCCCCGTGATCCCCACCC CTCTCTATCTAGCCCCCTCCCCATGATCCCCACCCCTCTCTGTCTAACCC CCTCCTTGTGATCCTCACCCCTCTCTATCTAGCACCTTCCTCGTGATCCC CACCCCTCTCTATCTAACCCCCTCCTTGTGATCCCCACCCCTCTCTATCT AGCACCTTCCTTGTGATCCCCACCCCTCTCTATCTAGCCCCCTCCCCGTG ATCCCCACCCCTCTCTATCTAGCCCCCCTCCCCATGATCCCCACCCCTCT CTGTCTAACCCCCTCCTTGTGATCCTCACCCCTCTCTATCTAGCACCTTC CTCGTGATCCCCACCCCTCTCTATCTAACCCCCTCCTTGTGATCCCCACC CCTCTCTATCTAGCACCTTCCTTGTGATCCCCACCCCTCTCTATCTAGC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	16/21			chr9	TogoVar
FOXK2_chr17_82514732_82609602	82586356	A A	AGGGGAAA others(920): Show AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGGAG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGGAGG GGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTAGGCAGGGGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAATGGAGGAGAGGG GAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAG ACCACAGGGAGGTGAAAGGTAGGCAGGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	125	0.0080	927	c.157 others(944): Show c.1576+187_1576+188insAGTCAAAGGTAGGCGGAGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGAAAGGAGG AGAGGGGAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGAAAGGAGGAGAGG GGAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGGAAAGGAGGAGAGGGG AGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGA CCACAGGGAGGTCAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTAGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCGGGGGGGGAATGGAGGAGAGGGGAGACCACAG GGAAGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTAGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GALR1_chr18_77244848_77282900	77252998	C C	CCACCACC others(920): Show CCACCACCATCACCACCATCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCATCACCACCATCACCACCACCACCACCACCACCACCACCATCACCA TCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAT CACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCA TCACCATCACCACCACCATCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCAC CATCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCA TCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCATC ACCACCATCACCACCACCACCACCACCACCACCACCATCACCATCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0108 a0003c0005t0108	a0003c0005t0108g0045 a0003c0005t0108g0045	1	258	0.0039	927	c.666 others(944): Show c.666+1792_666+1793insTCACCACCATCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCATCACCACCACCACCATCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACC ACCACCATCACCATCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCATCACCACCACCATCACCACCATCACCACCACCACCACC ACCACCACCACCATCACCATCACCACCACCATCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCA CCACCATCACCACCATCACCACCACCACCACCACCATCACCACCACCACC ACCACCATCACCATCACCACCACCATCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCA TCACCATCACCACCACCATCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCATCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GMDS_chr6_1618806_2250605	1927217	A A	AGAGGGTA others(920): Show AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCATGTTGGTGTATTTTTATTCAGAGGGTAGC GTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTC AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCGAAGGGTAGC GTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGTATTTTATTCA GAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCG TGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCA GAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCG TGTTGATGTATTTTTATACAGAGGGTAGCGTGTTGGTGTATTTTTATTCG AAGGGTAGCGTGTTGGTGTATTTTATTCAGAGGGTAGCATGTTGGTGTAT TTTTATTCAGAGGGTAGCATGTTGATGTATTTTTATTCAGAGGGTAGCAT GTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAG AGGGTAGGGTGTTGCTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTAT TTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGT GTTGCTGTATTTTTATTCGGAGGGTAGCATGTTGCTGTATTTTGATTCAG AGGGTAGCGTGTTGGTGTATTTTATTCG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	14	0.0714	927	c.771 others(944): Show c.771+2885_771+2886insCGAATAAAATACACCAACACGCTACCCT CTGAATCAAAATACAGCAACATGCTACCCTCCGAATAAAAATACAGCAAC ACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAA ATACACCAACACGCTACCCTCTGAATAAAAATACAGCAACACCCTACCCT CTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACACCAAC ATGCTACCCTCTGAATAAAAATACATCAACATGCTACCCTCTGAATAAAA ATACACCAACATGCTACCCTCTGAATAAAATACACCAACACGCTACCCTT CGAATAAAAATACACCAACACGCTACCCTCTGTATAAAAATACATCAACA CGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAA TACACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTC TGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACA CGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAA TACACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTC TGAATAAAATACATCAACACGCTACCCTCTGAATAAAAATACACCAACAC GCTACCCTTCGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAAT ACATCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCT GAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACAC GCTACCCTCTGAATAAAAATACACCAACATGCTACCCTCTGAATAAAAAT ACATCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1927217	A A	AGAGGGTA others(920): Show AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGC GTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTC AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCGAAGGGTAGC GTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGTATTTTATTCA GAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCG TGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCA GAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCG TGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCG AAGGGTAGCGTGTTGGTGTATTTTATTCAGAGGGTAGCATGTTGGTGTAT TTTTATTCAGAGGGTAGCATGTTGATGTATTTTTATTCAGAGGGTAGCAT GTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAG AGGGTAGGGTGTTGCTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTAT TTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGT GTTGCTGTATTTTTATTCAGAGGGTAGCATGTTGCTGTATTTTGATTCAG AGGGTAGCGTGTTGGTGTATTTTATTCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	14	0.0714	927	c.771 others(944): Show c.771+2885_771+2886insCGAATAAAATACACCAACACGCTACCCT CTGAATCAAAATACAGCAACATGCTACCCTCTGAATAAAAATACAGCAAC ACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAA ATACACCAACACGCTACCCTCTGAATAAAAATACAGCAACACCCTACCCT CTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACACCAAC ATGCTACCCTCTGAATAAAAATACATCAACATGCTACCCTCTGAATAAAA ATACACCAACATGCTACCCTCTGAATAAAATACACCAACACGCTACCCTT CGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACA CGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAA TACACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTC TGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACA CGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAA TACACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTC TGAATAAAATACATCAACACGCTACCCTCTGAATAAAAATACACCAACAC GCTACCCTTCGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAAT ACATCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCT GAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACAC GCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAAT ACATCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1927217	A A	AGAGGGTA others(920): Show AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGC GTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTC AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCGAAGGGTAGC GTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGTATTTTATTCA GAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCG TGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCA GAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCG TGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCG AAGGGTAGCGTGTTGGTGTATTTTATTCAGAGGGTAGCATGTTGGTGTAT TTTTATTCAGAGGGTAGCATGTTGATGTATTTTTATTCAGAGGGTAGCAT GTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAG AGGGTAGGGTGTTGCTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTAT TTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGT GTTGCTGTATTTTTATTCGGAGGGTAGCATGTTGCTGTATTTTGATTCAG AGGGTAGCGTGTTGGTGTATTTTATTCG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp1 HG01071.hp1 others(27): Show HG00323.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01175.hp2 HG01433.hp1 HG01496.hp2 HG02055.hp2 HG02109.hp1 HG02273.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02896.hp2 HG02970.hp2 HG03017.hp1 HG03225.hp1 HG03471.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG06807.hp1 NA18948.hp1 NA18970.hp1 NA19002.hp1 NA19003.hp2 NA19079.hp1 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0033 others(27): Show a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0099 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0002g0080 a0001c0001t0002g0093 a0001c0001t0002g0115 a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0075 a0001c0002t0001g0095 a0001c0002t0001g0121 a0001c0002t0001g0127 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0159	30	43	0.6977	927	c.771 others(944): Show c.771+2885_771+2886insCGAATAAAATACACCAACACGCTACCCT CTGAATCAAAATACAGCAACATGCTACCCTCCGAATAAAAATACAGCAAC ACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAA ATACACCAACACGCTACCCTCTGAATAAAAATACAGCAACACCCTACCCT CTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACACCAAC ATGCTACCCTCTGAATAAAAATACATCAACATGCTACCCTCTGAATAAAA ATACACCAACATGCTACCCTCTGAATAAAATACACCAACACGCTACCCTT CGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACA CGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAA TACACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTC TGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACA CGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAA TACACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTC TGAATAAAATACATCAACACGCTACCCTCTGAATAAAAATACACCAACAC GCTACCCTTCGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAAT ACATCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCT GAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACAC GCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAAT ACATCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1927217	A A	AGAGGGTA others(920): Show AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGC GTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTC AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCGAAGGGTAGC GTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGTATTTTATTCA GAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCG TGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCA GAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCG TGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCG AAGGGTAGCGTGTTGGTGTATTTTATTCAGAGGGTAGCATGTTGGTGTAT TTTTATTCAGAGGGTAGCATGTTGATGTATTTTTATTCAGAGGGTAGCAT GTTGGTGTATTTTTATTCAGAGGGTAGTGTGTTGGTGTATTTTTATTCAG AGGGTAGGGTGTTGCTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTAT TTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGT GTTGCTGTATTTTTATTCGGAGGGTAGCATGTTGCTGTATTTTGATTCAG AGGGTAGCGTGTTGGTGTATTTTATTCG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	14	0.0714	927	c.771 others(944): Show c.771+2885_771+2886insCGAATAAAATACACCAACACGCTACCCT CTGAATCAAAATACAGCAACATGCTACCCTCCGAATAAAAATACAGCAAC ACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAA ATACACCAACACGCTACCCTCTGAATAAAAATACAGCAACACCCTACCCT CTGAATAAAAATACACCAACACACTACCCTCTGAATAAAAATACACCAAC ATGCTACCCTCTGAATAAAAATACATCAACATGCTACCCTCTGAATAAAA ATACACCAACATGCTACCCTCTGAATAAAATACACCAACACGCTACCCTT CGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACA CGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAA TACACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTC TGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACA CGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAA TACACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTC TGAATAAAATACATCAACACGCTACCCTCTGAATAAAAATACACCAACAC GCTACCCTTCGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAAT ACATCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCT GAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACAC GCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAAT ACATCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GOLM1_chr9_86021146_86104558	86053539	C C	CCACACCA others(920): Show CCACACCATTCCACACCATGCCACACACCACACACACACTCCACACCAAA CCACACACAACCACTCCACACACACATCACACACCACACACCACTCCACA CACACACACACCACACACACCACACATCACACACACCATTCCACCACACA ACACACCACACATCACTCCACAAAACACCACACACACCATGCCACACCAC TCCACACACAGCACACCACTCCACACACAGCACACCACTCCACACACACC ACACACCACTCCACACGCCACAGCACACCACACATCACACCACACACTAC CACACCACACACCACTCCACACCACATACCACTCCACACCAAAACATACC ACACCACACCACACCACTCCACACAACGTGCCACACACCAGCCCACACCA AACCACACACCACACACCACACATCACTCCACACCCCAAACACACCACAC ACCACTCCACACACACCACACACCACTCCACACCAAACCACACCACTCCA CACCAAACCACACGACACACCAAACCACACCACACACATCACACCACACC ACACCATGCCATATGACTCCACACACCAGACCACACCACATACCACTCCA CACCACACCCCACTCCACACACCATGCCACACACACTACACCACACACAC CAAACCACACCACACCACACCACTCCACACACTTCACACCAAACCACACA CCCCACCACACACACTCCACACCAAACCACATCACACCACACCACTCCAC ACCATACACATCACATACCACACCACACACTGCTCCACACAACACATCGC ACCACTCCACACCAAACCACACACCATGCCACACCACTCCATATGACACA CACCACGGCACACACCACATACCACACTCCACACCAAACCACACCACACC ATATACCACACCACACCACACACCACTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02965.hp2 HG03471.hp2 others(2): Show HG01255.hp1 HG02965.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 a0002c0002t0010	a0001c0001t0002g0130 a0001c0001t0013g0109 a0001c0001t0013g0132 others(2): Show a0001c0001t0002g0130 a0001c0001t0013g0109 a0001c0001t0013g0132 a0001c0001t0014g0247 a0002c0002t0010g0122	5	14	0.3571	927	c.310 others(942): Show c.310-949_310-948insAAGTGGTGTGTGGTGTGGTGTGGTATATGG TGTGGTGTGGTTTGGTGTGGAGTGTGGTATGTGGTGTGTGCCGTGGTGTG TGTCATATGGAGTGGTGTGGCATGGTGTGTGGTTTGGTGTGGAGTGGTGC GATGTGTTGTGTGGAGCAGTGTGTGGTGTGGTATGTGATGTGTATGGTGT GGAGTGGTGTGGTGTGATGTGGTTTGGTGTGGAGTGTGTGTGGTGGGGTG TGTGGTTTGGTGTGAAGTGTGTGGAGTGGTGTGGTGTGGTGTGGTTTGGT GTGTGTGGTGTAGTGTGTGTGGCATGGTGTGTGGAGTGGGGTGTGGTGTG GAGTGGTATGTGGTGTGGTCTGGTGTGTGGAGTCATATGGCATGGTGTGG TGTGGTGTGATGTGTGTGGTGTGGTTTGGTGTGTCGTGTGGTTTGGTGTG GAGTGGTGTGGTTTGGTGTGGAGTGGTGTGTGGTGTGTGTGGAGTGGTGT GTGGTGTGTTTGGGGTGTGGAGTGATGTGTGGTGTGTGGTGTGTGGTTTG GTGTGGGCTGGTGTGTGGCACGTTGTGTGGAGTGGTGTGGTGTGGTGTGG TATGTTTTGGTGTGGAGTGGTATGTGGTGTGGAGTGGTGTGTGGTGTGGT AGTGTGTGGTGTGATGTGTGGTGTGCTGTGGCGTGTGGAGTGGTGTGTGG TGTGTGTGGAGTGGTGTGCTGTGTGTGGAGTGGTGTGCTGTGTGTGGAGT GGTGTGGCATGGTGTGTGTGGTGTTTTGTGGAGTGATGTGTGGTGTGTTG TGTGGTGGAATGGTGTGTGTGATGTGTGGTGTGTGTGGTGTGTGTGTGTG TGGAGTGGTGTGTGGTGTGTGATGTGTGTGTGGAGTGGTTGTGTGTGGTT TGGTGTGGAGTGTGTGTGTGGTGTGTGGCATGGTGTGGAATGGTGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GOLM1_chr9_86021146_86104558	86053539	C C	CCACACCA others(920): Show CCACACCATTCCACACCATGCCACACACCACACACACACTCCACACCAAA CCACACACAACCACTCCACACACACATCACACACCACACACCACTCCACA CACACACACACCACACACACCACACATCACACACACCATTCCACCACACA ACACACCACACATCACTCCACAAAACACCACACACACCATGCCACACCAC TCCACACACAGCACACCACTCCACACACAGCACACCACTCCACACACACC ACACACCACTCCACACGCCACAGCACACCACACATCACACCACACACTAC CACACCACACACCACTCCACACCACATACCACTCCACACCAAAACATACC ACACCACACCACACCACTCCACACAACGTGCCACACACCAGCCCACACCA AACCACACACCACACACCACACATCACTCCACACCCCAAACACACCACAC ACCACTCGACACACACCACACACCACTCCACACCAAACCACACCACTCCA CACCAAACCACACGACACACCAAACCACACCACACACATCACACCACACA CCATGCCATATGACTCCACACACCAGACCACACCACATACCACTCCACAC CACACCCCACTCCACACACCATGCCACACACACTACACCACACACACCAA ACCACACCACACCACACCACTCCACACACTTCACACCAAACCACACACCC CACCACACACACTCCACACCAAACCACATCACACCACACCACTCCACACC ATACACATCACATACCACACCACACACTGCTCCACACAACACATCGCACC ACTCCACACCAAACCACACACCATGCCACACCACTCCATATGACACACAC CACGGCACACACCACATACCACACTCCACACCAAACCACACCACACCATA TACCACACCACACCACACACCACCACTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0069 a0001c0004t0002g0069	1	10	0.1000	927	c.310 others(942): Show c.310-949_310-948insAAGTGGTGGTGTGTGGTGTGGTGTGGTATA TGGTGTGGTGTGGTTTGGTGTGGAGTGTGGTATGTGGTGTGTGCCGTGGT GTGTGTCATATGGAGTGGTGTGGCATGGTGTGTGGTTTGGTGTGGAGTGG TGCGATGTGTTGTGTGGAGCAGTGTGTGGTGTGGTATGTGATGTGTATGG TGTGGAGTGGTGTGGTGTGATGTGGTTTGGTGTGGAGTGTGTGTGGTGGG GTGTGTGGTTTGGTGTGAAGTGTGTGGAGTGGTGTGGTGTGGTGTGGTTT GGTGTGTGTGGTGTAGTGTGTGTGGCATGGTGTGTGGAGTGGGGTGTGGT GTGGAGTGGTATGTGGTGTGGTCTGGTGTGTGGAGTCATATGGCATGGTG TGTGGTGTGATGTGTGTGGTGTGGTTTGGTGTGTCGTGTGGTTTGGTGTG GAGTGGTGTGGTTTGGTGTGGAGTGGTGTGTGGTGTGTGTCGAGTGGTGT GTGGTGTGTTTGGGGTGTGGAGTGATGTGTGGTGTGTGGTGTGTGGTTTG GTGTGGGCTGGTGTGTGGCACGTTGTGTGGAGTGGTGTGGTGTGGTGTGG TATGTTTTGGTGTGGAGTGGTATGTGGTGTGGAGTGGTGTGTGGTGTGGT AGTGTGTGGTGTGATGTGTGGTGTGCTGTGGCGTGTGGAGTGGTGTGTGG TGTGTGTGGAGTGGTGTGCTGTGTGTGGAGTGGTGTGCTGTGTGTGGAGT GGTGTGGCATGGTGTGTGTGGTGTTTTGTGGAGTGATGTGTGGTGTGTTG TGTGGTGGAATGGTGTGTGTGATGTGTGGTGTGTGTGGTGTGTGTGTGTG TGGAGTGGTGTGTGGTGTGTGATGTGTGTGTGGAGTGGTTGTGTGTGGTT TGGTGTGGAGTGTGTGTGTGGTGTGTGGCATGGTGTGGAATGGTGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
ICA1_chr7_8108184_8267167	8152656	C C	CCACCACC others(920): Show CCACCACCACCACCATTATCTCCTTCATCACCACTACCCCCACCACTACC ACCATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTT CATCACCACTACCCCCACCACTACCACCACCACCACCATTATCTCCTTCA TCACCACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACC ACCATCTCCTTCAACACCACTACCCCCACCACTACCACCATCACCTCTTC CACCACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATCT CCTTCACCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACT ACCACCATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTT CATCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCA CCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTACC ACCATCACCATCACCTCCACCACCACCACCACCACCACCACCATCTCCTT CAACACCACTACCCCCACCACTACCACCATCACCTCCACCACCACCACCA TCTCCTTCAACACCACTACCCCCACCACTACCACCATCACCATCACCTCC ACCACCACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCAT CACCATCACCTCCACCACCACCACCATCTCCTTCACCACCACTACCCCCA GCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACC ACTACCACCACCACCACCATTATCTCCTTCATCACCACTACCCCCACCAC TACCACCATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCT CCTTCATCACCACTACCCCCACCACTAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	271	0.0037	927	c.804 others(944): Show c.804+4459_804+4460insATAGTGGTGGGGGTAGTGGTGATGAAGG AGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTA GTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAGT GGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGC TGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTG ATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTGGTGGT GGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGA TGGTGGTGGTGGTGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTG AAGGAGATGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGATGGTGATGGT GGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGG TGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATG AAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGT AGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGG AGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTG GAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGT GGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGA TGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGGGGTAGTGGTGATG AAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGT GGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFT140_chr16_1505427_1617072	1599452	G G	GCCGTCCG others(920): Show GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGG GTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGT CAGCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGGGCCAGCCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCGGCCCCCCGCCGGGCCAGCCACCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCGCCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0006 a0002c0003t0003g0006	1	145	0.0069	927	c.369 others(944): Show c.369+2917_369+2918insGGCGGCTGGCCGGGCGGGGGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCACCTCCCTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGAGGGCTG ACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC CCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599452	G G	GCCGTCCG others(920): Show GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGG GTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGT CAGCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGGGCCAGCCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCGGCCCCCCGCCGGGCCAGCCACCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCGCCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0029 a0002c0003t0003g0029	1	145	0.0069	927	c.369 others(944): Show c.369+2917_369+2918insGGCGGCTGGCCGGGCGGGGGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCACCTCCCTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGAGGGCTG ACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC CCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599452	G G	GCCGTCCG others(920): Show GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGG GTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGT CAGCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCACCC CGTCCGGGAGGGAGGTGGGGGGGGGGGCCAGCCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCGGCCCCCCGCCGGGCCAGCCACCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCGCCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0025 a0002c0003t0003g0025	1	145	0.0069	927	c.369 others(944): Show c.369+2917_369+2918insGGCGGCTGGCCGGGCGGGGGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCCCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGAGGGCTG ACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC CCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599452	G G	GCCGTCCG others(920): Show GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGG GTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGT CAGCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCACCC CGTCCGGGAGGGAGGTGGGGGGGGGGGCCAGCCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCGGCCCCCCGCCGGGCCAGCCACCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCGCCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0016 a0002c0003t0003g0016	1	145	0.0069	927	c.369 others(944): Show c.369+2917_369+2918insGGCGGCTGGCCGGGCGGGGGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCCCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGAGGGCTG ACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC CCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599504	G G	GTCCGGGA others(920): Show GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGG TCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTC AGCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCC TGTCCGGGAGGGAGGTGGGGGGGGGGGCCAGCCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCGGCCCCCCGCCGGGCCAGCCACCCCGTCAGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG TGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGT GTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCGGCCCCCCGCCTGGCCAGCCTTCCCA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0003	a0006c0007t0003g0160 a0006c0007t0003g0160	1	322	0.0031	927	c.369 others(944): Show c.369+2865_369+2866insTGGGAAGGCTGGCCAGGCGGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACA CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCTGACGGGGTGGCTGGCCCGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCCCTCCCGGACA GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGAGGGCT GACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGA CCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739065	C C	CCTCATCC others(920): Show CCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTC ATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCC ATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCAC CTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCA TCCACCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCA CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCATCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTCAT CCATCCACACACCAGTATCTCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGC ACCTCATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATC CATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATC CACACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCACACACC AGCACCTCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	152	0.0066	927	c.507 others(944): Show c.507-8422_507-8421insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGT GCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGAGATACTGGTGTGTGGATGG ATGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGA GGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTG TGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGA TGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGAT GAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739065	C C	CCTCATCC others(920): Show CCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTC ATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCC ATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCAC CTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCA TCCACCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCA CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCATCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTCAT CCATCCACACACCAGTATCTCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGC ACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATC CATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATC CACACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCACACACC AGCACCTCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18987.hp1 HG03041.hp2 NA18987.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0048 a0004c0004t0001g0133 a0001c0001t0001g0048 a0004c0004t0001g0133	2	153	0.0131	927	c.507 others(944): Show c.507-8422_507-8421insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGAGATACTGGTGTGTGGATGG ATGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGA GGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTG TGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGA TGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGAT GAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739065	C C	CCTCATCC others(920): Show CCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTC ATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCC ATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCAC CTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCA TCCACCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCA CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCATCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTCAT CCATCCACACACCAGTATCTCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCATGCACACACCAGCACCTCATCCATCCACACACCAGC ACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATC CATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATC CACACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCACACACC AGCACCTCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	152	0.0066	927	c.507 others(944): Show c.507-8422_507-8421insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGCATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGAGATACTGGTGTGTGGATGG ATGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGA GGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTG TGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGA TGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGAT GAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
LINGO2_chr9_27932617_29218601	28189685	G G	GAGGGAGG others(920): Show GAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGAA GGAAGGGAGGAAGAAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGG AAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGA GGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGG AAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAA GGAAGGAAGGGAGGAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGG AGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAG AAGGGAGGAAGGAAGGAAGGAAGGGGGAAGGAAGGAAGGAAGGAGGGAGG AAGGAAGGGAGGAAGGAAGGAAGGGACGGGAGGAAGGAAGGAAGGGAGGA AGGAAGGGAGGAAGAAGGAAGGGAGGAAGGAAGGGAGGAAGAAGGAAGGA AGGAAGGGAGGAAGGAAGGGCGGGAGGAAGGAAGGAGGAAGGAAGGAAGG ACGGGAGGGAGGAAGGAAGGAAGGGAGGAGGAAGGAAGGAAGGGAGGGAG GAAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGG AGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAG GGAGGAAGGAAGGGAGGGGAAGGAAGGGAGGAAGGAAGGGAGGAAGAAAG GAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGG AGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAG GAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGA AGGAAGGGAGGAAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	36	0.0278	927	c.-36 others(948): Show c.-36+105522_-36+105523insTCCTCCCTCCCTCCCTTCCTCCCT TCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTC CTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCT TCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTC CTTCCTTTCTTCCTCCCTTCCTTCCTCCCTTCCTTCCCCTCCCTTCCTTC CTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCT CCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTCC CTTCCTCCCTCCCTTCCTTCCTTCCTCCTCCCTTCCTTCCTTCCTCCCTC CCGTCCTTCCTTCCTTCCTCCTTCCTTCCTCCCGCCCTTCCTTCCTCCCT TCCTTCCTTCCTTCTTCCTCCCTTCCTTCCTCCCTTCCTTCTTCCTCCCT TCCTTCCTCCCTTCCTTCCTTCCTCCCGTCCCTTCCTTCCTTCCTCCCTT CCTTCCTCCCTCCTTCCTTCCTTCCTTCCCCCTTCCTTCCTTCCTTCCTC CCTTCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCT CCCTCCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTTCCTCCCTTCC TTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTT CCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCC TCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTT CCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTTCTTCCTCCC TTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTC CCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LPP_chr3_188149157_188895671	188516629	T T	TAGAAATC others(920): Show TAGAAATCCACTTAGACTCATTTGGGTATATACCCAGTAATGGGATGGCT GGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGA CTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTG TTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTA ATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGAT TTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTT TGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCC CACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTGAGTATAAATC ATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCA CAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGG ATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAA AAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCA TCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTC TCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGG GAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGAT AGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCG CACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCAC ATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAGAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0038 a0002c0004t0004g0038	1	64	0.0156	927	c.307 others(944): Show c.307-8021_307-8020insCTCATTTGGGTATATACCCAGTAATGGG ATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTGAGTA TAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCAC TATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATA GACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGC CATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGG AAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGC ATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAG GAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGG AGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGT GCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAAT GTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAGAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATCCACTTAGA	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRC27_chr10_132327193_132386508	132364601	C C	CACCCACA others(920): Show CACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTC CACACCCACACTCACACCCACCCACACTCACACCCACCCACACTCACACC CACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACA CCCACACTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTCA CACCCACCCACACTCACACCCACCCACACTTACACCCACCCACACTTACA CCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCA CACCCACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTA CCTCCACACCCACACTTACACCCACACTTACATCTACCTCCACGCCCACA CTCACACCCACCCACACTCACACCCACCCACACTCACACCCACCCACACT TACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACA CTTACACCCACCCTTACATCTACCTCCACGCCCACACTCACACCCACCCA CACTTACACCCACCCTTACATCTACCTCCACGCCCACACTCACACCCACC CACACTCACACCCACGCTTACATCTACCTCCACACCCACACTTAACACCC ACGCTTACATCTACCTGCACACCCACACTTACACCCACGCTTACATCTAC CTGCACACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCT ACCTCCACACCCACACTCACACCCACGCTTACATCTACCTCCACACCCAC ACTTAACACCCACGCTTACATCTACCTGCACACCCACACTCACACCCACG CTTACATCTACCTGCACACCCACACTTACACCCACCCACACTTACACCCA CGCTTACATCTACCTCCACACCCACACT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0007 a0003c0008t0007	a0003c0008t0007g0094 a0003c0008t0007g0094	1	269	0.0037	927	c.129 others(944): Show c.1290-823_1290-822insACCCACACTTACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTC ACACCCACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCT ACCTCCACACCCACACTTACACCCACACTTACATCTACCTCCACGCCCAC ACTCACACCCACCCACACTCACACCCACCCACACTCACACCCACCCACAC TTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTCACACCCACCCACACTCACACCCACCCACAC TTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACACTT ACATCTACCTCCACGCCCACACTCACACCCACCCACACTCACACCCACCC ACACTCACACCCACCCACACTTACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACTTACACCCACCCTTACATCTACCTCCAC GCCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACGCCCACACTCACACCCACCCACACTCACACCCACGCTTACATCTACCT CCACACCCACACTTAACACCCACGCTTACATCTACCTGCACACCCACACT TACACCCACGCTTACATCTACCTGCACACCCACACTTACACCCACCCACA CTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACGCT TACATCTACCTCCACACCCACACTTAACACCCACGCTTACATCTACCTGC ACACCCACACTCACACCCACGCTTACATCTACCTGCACACCCACACTTAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10			chr10	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCTCACC others(920): Show GCCTCACCCTCCCCTCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCCCT CCCCCTCCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCCTCCCTC CCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCC CCTCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCCCTCCC CCCTCCCCCTCCTCCCCCCTCCCCCCTTCCCTCCCCCCCTCCCCTCCCCC CTCCCCCTTCCCCTCCCCTCCACCCTCCCCCCTCTCCTCCCCTCCCTTCC CCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCCTTCCCTCCCGCCTCCCC TTCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTC CCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCTCCCCCCTCCC CTCCCCCCTTCGCTCCCTCCCCTCTGCCCTCCCTTCCCGCCCCTCCCCTC CCTTTCCCTCCCTTCCCCTCCCTCACCTCCCCTTCCCTCCCCCTCCCTTC CCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCC CTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCC CCCTCCCCTCCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCC CTCCCCTCCCCACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0006 a0002c0006t0002g0006	1	8	0.1250	927	c.115 others(944): Show c.1157+140_1157+141insTCACCCTCCCCTCCCCCTCCCCTCCCTC CCCCTCCCCTCCCCCCCCTCCCCCTCCCCCCTCCCCTCCCTCCCCCTGCC CTCCCCCCTCCCCTCCCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCT CCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCTCCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCTCCCCCCCTCCCCTCCC CCCTCCCCCCTTCCCTCCCCCCTCCCCCTCCTCCCCCCTCCCCCCTTCCC TCCCCCCCTCCCCTCCCCCCTCCCCCTTCCCCTCCCCTCCACCCTCCCCC CTCTCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCC CCTTCCCTCCCGCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTT CCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTA CCCCTCCCTCCCCCCTCCCCTCCCCCCTTCGCTCCCTCCCCTCTGCCCTC CCTTCCCGCCCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCTCACCTCCC CTTCCCTCCCCCTCCCTTCCCCTCCCCTCCCCCCTCCTCCCCCTCCCTTC CCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCC CCTTCCCTCCCCACCTCCCCCCTCCCCTCCCCTTCCCTCTCCTGTCCCCA CTCCTCCTCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCACCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(920): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAAGGGGGAGGAGGCGGAGCAGTAGGGA GAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAG GAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGAG GAGGGGGGGAAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAA GAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAG GGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGG GGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGA GCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAA AAGGGGGAGGAGGCGGAGCAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGA TGGGGAGGAGGGAAAAGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGG AGAAAGAAGAGGAGGAGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGACA GGGAAGAGGGGGAAAGGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGG AAGAGAAAGAGGGGGAGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGG AGGAACAGGAGGAAGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	8	0.1250	927	c.641 others(942): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTTCCCCCCCTCCT CCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCT TCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCT CCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTC CCTACTGCTCCGCCTCCTCCCCCTTTTTTCCCCCTCCTCCCCCCTTCTCT CCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCG CCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446461	A A	AGTGAGAG others(920): Show AGTGAGAGAAGGGGGAGGAGGGGGAAAAGGGGAGGAGGGCGGAGCAGTAG GGAGAGAAGAGTGAAGAGGGAGAGGTGGGGGGAGGAGGGAGAGAAGGGGG GAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTG AAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAA AAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGAGAGGAG GGGGGAGGAGGGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAG AGGAGGGGGAGGAGGGAAGGAGGGGGGAGGAGGGAGAGGAGGGGGAGGAG GGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGG GAGGAGGGGGAAAAAGGGGGAGGAGGCGCTGTAGGGAGAGAAGAGTGAAG AGGGAGAGGAGGGGGAGGAGTGAGAGAGGGGAGGAGGGGGAAAAGGGAGG AGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGAGGAG GGAGAGAAGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGG GAGAGAAGAGTGAAGAGGGAGAGGGAGGGGGAGGAAGGGGAGAAAAGGGG GAGGAGGCGGAGCAGTAGGGGGAGGGAGAGTGAGGAGGGGAAGGATGGGA GGAGGGAAAAGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAG AAGAGGAGGAGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAG AGGAGGAAGGAGGGTGAGGAGAGGGAGAGAAGAGAGAGAGGAGAGAAGAG GGGGAGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAG AAGAGGAGGGGGAGGAGGGGGAGGTGAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0109 a0005c0005t0001g0109	1	278	0.0036	927	c.641 others(942): Show c.641+251_641+252insCTCACCTCCCCCTCCTCCCCCTCCTCTTCT CCTGTTCCTCCTCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCT CTTCTCTCCTCTCTCTCTTCTCTCCCTCTCCTCACCCTCCTTCCTCCTCT TCCCTGTCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCT TTCTCCCCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTC CCATCCTTCCCCTCCTCACTCTCCCTCCCCCTACTGCTCCGCCTCCTCCC CCTTTTCTCCCCTTCCTCCCCCTCCCTCTCCCTCTTCACTCTTCTCTCCC TACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCTTCTCTCCCT CCTCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCC TCCCTTTTCCCCCTCCTCCCCTCTCTCACTCCTCCCCCTCCTCTCCCTCT TCACTCTTCTCTCCCTACAGCGCCTCCTCCCCCTTTTTCCCCCTCCTCCC CCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCT CCTCCCCCTCCTCTCCCTCCTCCCCCCTCCTTCCCTCCTCCCCCTCCTCT CCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCCCTCCTCCCCCCT CCTCTCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTT TCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCA CTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCC CCCTTCTCTCCCTCCTCCCCCCACCTCTCCCTCTTCACTCTTCTCTCCCT ACTGCTCCGCCCTCCTCCCCTTTTCCCCCTCCTCCCCCTTCTCTCAC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar

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