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
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(956): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGA TAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTA TGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGT GTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATAT CTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGT GTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTA AGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTA TATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTAT GCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTG TGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATC CCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATA ACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATG CATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGT GTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	262	0.0038	963	c.199 others(980): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCC TAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTA TGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAA CAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTT GTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCAT AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGT GTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGT GTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTA TGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAA GGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAAC AGTCATTTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCA TATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTA ATCCCTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTG TGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACA GTCATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(956): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGA TAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTA TGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGT GTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATAT CTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTC CTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGT GTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTA AGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTA TATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGC ATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTGTG TGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATCCC TTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATA ACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATG CATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGT GTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02965.hp2 HG03453.hp1 HG02895.hp2 HG02965.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0215 a0001c0001t0002g0043 a0001c0001t0002g0215	3	264	0.0114	963	c.199 others(980): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCC TAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTA TGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAA CAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTT GTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCAT AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATG TATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGT GTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTA TGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAA GGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAG TCATTTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATA TCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTA ATCCCTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTG TGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACA GTCATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(956): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATG TATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCAT ATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTC CTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGT GTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTATA TGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCAT ACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTGTGTG TGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTT CTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATA ACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATG CATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGT GTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	262	0.0038	963	c.199 others(980): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTG TATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGAT AACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGT TTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTC ATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATG TATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATG TGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGG ATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTC ATTTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATC TGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTA ATCCCTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTG TGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACA GTCATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(956): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATG TATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCAT ATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTC CTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGT GTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTATA TGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGC ATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTGTG TGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATCCC TTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATA ACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATG CATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGT GTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18942.hp2 NA19086.hp1 HG04204.hp1 NA18942.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0033 a0001c0001t0002 a0001c0001t0033	a0001c0001t0002g0025 a0001c0001t0033g0025 a0001c0001t0002g0025 a0001c0001t0033g0025	3	264	0.0114	963	c.199 others(980): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTG TATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGAT AACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGT TTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTC ATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATG TATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATG TGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGG ATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAG TCATTTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATA TCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTA ATCCCTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTG TGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACA GTCATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(956): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATG TATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCAT ATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTG TCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGT GTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTA AGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTA TATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTAT GCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTG TGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATC CCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGATA ACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATG CATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGT GTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	262	0.0038	963	c.199 others(980): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTG TATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGAT AACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGT TTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTC ATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTA TGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGT GTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGT GTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTA TGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAA GGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAAC AGTCATTTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCA TATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTA ATCCCTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTG TGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACA GTCATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930542	G G	GGGGGTTA others(956): Show GGGGGTTAGGAAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGACCAA GGGTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGG GAGGCCAGGGGTTAGGGAGGCCGGGGTCAGGGAGGCCGGGGTTAGGGAGG CTGGGGTTAGGGAGGCCGGGGTCAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTA GGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTCAGGGAGGCC GGGGTTAGGGAGGCCAGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAG GGAGGCCGGGGTCAGGGAGGCCGGGGTCAGGGAGGCCGGGGTTAGGGAGG CCAGGGGTTAGGGAGGCCGGGGTCAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGT AGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTCAGGGAGGC CGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGG GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTA GGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGA GGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGGAGGCCG GGGTCAGGGAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	285	0.0035	963	c.50 others(974): Show c.5048_*5049insGGCCTCCCTGACCCCGGCCTCCCTAACCCCGGCC TCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCC TAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCTG GCCTCCCTAACCCTGGCCTCCCTAACCCCGGCCTCCCTGACCCCGGCCTC CCTAACCCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCC TGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTGACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCC CTGACCCCGGCCTCCCTGACCCCGGCCTCCCTAACCCCTGGCCTCCCTAA CCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCC AGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCCTCCCTGACCCCGGCCT CCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCC CTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGG CCTCCCTGACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCC CTGACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCCCTG ACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTACCCT GGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCCTG GCCTCCCTAACCCCAGCCTTCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4827		chr11	TogoVar
TUBB2B_chr6_3219277_3232653	3222288	T T	TCACCATC others(956): Show TCACCATCATCACCACCACCACCACTACCACTACCACCATCATAATTACC ACCACCATCACCACCACCACCACCACTATCACCATCATCACCACCACCAC CACCACCACTAGCACAACCACAACACTACCACATCACCACCACCACTACC ACTACTACCATCACCATCACCACCACCATCACCACCACCACCACAATACT ACCACATCACCACCACGATCACCATCATCACCACCACCACCACCACTAGC ACAACCACAACACTACCACATCACCACCACCACTACCACCACCACCACCA TCACTACTACCATCACCACCACCACCACCATCACCACCACCACGACCACC ACAACACTACCACATCACCACCACCACCATCATCATCACCACCACTACCA CCACCACTACCACCACCACCACCATCACTACTACCATCACCACCACCACC ACCATCACCACCACCACGACCACCACAACACTACCACATCACCACCACCA CCATCACCACTGCCACCACCACTACCACCACCACCACTACCACCATCGCC ACCATCACCACCACATCACCACCACCACCACACTACCACCACCACCACCA TCACCACTACTACCATCACCACTACTACCACCACCACCATCACAATCACC ACTATCACCATCATCACCATCACTACCACCACCACCATCACCATCATCGC CACCACCACCAACACTACTGCCACCACCACTATTACCATCACCACCACTA CTACCACCACCACTACCATAACCACCATCATCACCATCACCATCATTACT GCTATTATGACCACCATCACTACCACCATTATCACCACCACCACTAAACT ACCACCACTACCTCACTGCCATCATCACCATCACCATTACTAACATCACC ATTACTAACATCACCATTATAATACTACCACCATCACTACCACCACCACC ACCACCACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	50	0.0200	963	c.24 others(974): Show c.2462_*2463insGTGATGGTGGTGGTGGTGGTGGTGGTAGTGATGG TGGTAGTATTATAATGGTGATGTTAGTAATGGTGATGTTAGTAATGGTGA TGGTGATGATGGCAGTGAGGTAGTGGTGGTAGTTTAGTGGTGGTGGTGAT AATGGTGGTAGTGATGGTGGTCATAATAGCAGTAATGATGGTGATGGTGA TGATGGTGGTTATGGTAGTGGTGGTGGTAGTAGTGGTGGTGATGGTAATA GTGGTGGTGGCAGTAGTGTTGGTGGTGGTGGCGATGATGGTGATGGTGGT GGTGGTAGTGATGGTGATGATGGTGATAGTGGTGATTGTGATGGTGGTGG TGGTAGTAGTGGTGATGGTAGTAGTGGTGATGGTGGTGGTGGTGGTAGTG TGGTGGTGGTGGTGATGTGGTGGTGATGGTGGCGATGGTGGTAGTGGTGG TGGTGGTAGTGGTGGTGGCAGTGGTGATGGTGGTGGTGGTGATGTGGTAG TGTTGTGGTGGTCGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTAG TAGTGATGGTGGTGGTGGTGGTAGTGGTGGTGGTAGTGGTGGTGATGATG ATGGTGGTGGTGGTGATGTGGTAGTGTTGTGGTGGTCGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTAGTAGTGATGGTGGTGGTGGTGGTAGTG GTGGTGGTGATGTGGTAGTGTTGTGGTTGTGCTAGTGGTGGTGGTGGTGG TGATGATGGTGATCGTGGTGGTGATGTGGTAGTATTGTGGTGGTGGTGGT GATGGTGGTGGTGATGGTGATGGTAGTAGTGGTAGTGGTGGTGGTGATGT GGTAGTGTTGTGGTTGTGCTAGTGGTGGTGGTGGTGGTGGTGATGATGGT GATAGTGGTGGTGGTGGTGGTGATGGTGGTGGTAATTATGATGGTGGTAG TGGTAGTGGTGGTGGTGGTGATGATGGTG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		1988		chr6	TogoVar
USP2_chr11_119350215_119386690	119351506	C C	CTCCTCTC others(956): Show CTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCC CTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCC CTCCTCTCTCCTCCCCTCCCCTCCCCTCCCTCTCTCCTCCCCTCCCCTCC TCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCTCCTCCCCTCCCCTCCCCC TCCTCTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCC TCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCT CCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCT CCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCC TCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCT CCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCT CCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCT CTCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTT CCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCT CCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCT CCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCT CTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCTCT CCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTCT CCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCCCT CCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTTT CTCCTCCCTTGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0138 a0004c0011t0001g0138	1	194	0.0052	963	c.53 others(974): Show c.5328_*5329insCGGCAAGGGAGGAGAAAGGAGGGGAGGGGAGCCG TGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGAGGAG AGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGAGAGG AGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGAGGGG AGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGG AAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGG AGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGG AGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGG AGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGG AAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGG AGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGG AGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGG AGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGA GGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGAGA GGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGA GGGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGGAGGGGAGGGGAGGAG AGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGA GGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAG AGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGACAGAGGAGGAGAGAGGA	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3708		chr11	TogoVar
ZNF407_chr18_74592870_75070671	74616905	A A	ACACCACA others(956): Show ACACCACACATATCCATATCCACACAGCACACACATCCATATCCACACAC CACACACATCCATATCCACACACATCCATATCCACACACCACACACACCC ATATCCACACACCACACACATCCATATCCACACATCCATATCCATGCACC ACACACATCCATATCCACACACATCCATTTCCACGCACATCCATATCCAC ACACCACACACATCCATATCCACGCACCACACACATCCATATCCACACAC ATCCATATCCACGCACATCCATATCCACACACATCCATATCCACACACCA CACACATCCATATCCACACACCACACACATCCATATCCACACACATCCAT ATCCACACACATCCATATCCACGCACCACACACATCCATATCCACACACC ACACACATCCATATCCATGCGCCACACACATCCATATCCACACACATCCA TATCCACACACCACACACATCCATATCCACACACCACACACATCCACACA CCACATACATCCATATCCACGCACATCCATATCCACATGCCACACACATC CATATCCACACACCACACACATCCATATCCACACACCACACACATTCATA TCCATACACCACACACACCCATATCCACACACCATACACATCCATATCCA CACACCACACACATCCATATCCACGCACCACACACATCGATATCCACGTA CATCCATATCCACGCACCACACACATCCATATCCATGCACATCCATATCC ACACACATCCATATCCACTCACCACACACATCCATATCCACACACATCCA TATCCACACACCACACACATCCATATCCACACACCACACACATCCATGTC CACACACATCCATATCCACACACCACACACATCCATATTCACACACATCC ATATCCGCACACCACACACATCCATATTCACACACATCCATATCCACGCA CATCCATATCTATG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp1 HG01175.hp2 others(11): Show HG00642.hp2 HG01109.hp1 HG01175.hp2 HG01243.hp2 HG01358.hp1 HG01952.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02809.hp1 HG03195.hp1 HG03540.hp1 HG03540.hp2 NA20129.hp2	a0003 a0006 a0007 others(1): Show a0003 a0006 a0007 a0008	a0003c0005 a0003c0006 a0003c0030 others(3): Show a0003c0005 a0003c0006 a0003c0030 a0006c0013 a0007c0032 a0008c0031	a0003c0005t0001 a0003c0005t0003 a0003c0006t0002 others(6): Show a0003c0005t0001 a0003c0005t0003 a0003c0006t0002 a0003c0006t0004 a0003c0006t0006 a0003c0030t0011 a0006c0013t0007 a0007c0032t0002 a0008c0031t0002	a0003c0005t0001g0021 a0003c0005t0001g0022 a0003c0005t0001g0036 others(11): Show a0003c0005t0001g0021 a0003c0005t0001g0022 a0003c0005t0001g0036 a0003c0005t0001g0083 a0003c0005t0001g0086 a0003c0005t0003g0037 a0003c0006t0002g0084 a0003c0006t0002g0085 a0003c0006t0004g0092 a0003c0006t0006g0087 a0003c0030t0011g0023 a0006c0013t0007g0008 a0007c0032t0002g0020 a0008c0031t0002g0030	14	86	0.1628	963	c.-53 others(982): Show c.-53-14059_-53-14058insCACACATATCCATATCCACACAGCAC ACACATCCATATCCACACACCACACACATCCATATCCACACACATCCATA TCCACACACCACACACACCCATATCCACACACCACACACATCCATATCCA CACATCCATATCCATGCACCACACACATCCATATCCACACACATCCATTT CCACGCACATCCATATCCACACACCACACACATCCATATCCACGCACCAC ACACATCCATATCCACACACATCCATATCCACGCACATCCATATCCACAC ACATCCATATCCACACACCACACACATCCATATCCACACACCACACACAT CCATATCCACACACATCCATATCCACACACATCCATATCCACGCACCACA CACATCCATATCCACACACCACACACATCCATATCCATGCGCCACACACA TCCATATCCACACACATCCATATCCACACACCACACACATCCATATCCAC ACACCACACACATCCACACACCACATACATCCATATCCACGCACATCCAT ATCCACATGCCACACACATCCATATCCACACACCACACACATCCATATCC ACACACCACACACATTCATATCCATACACCACACACACCCATATCCACAC ACCATACACATCCATATCCACACACCACACACATCCATATCCACGCACCA CACACATCGATATCCACGTACATCCATATCCACGCACCACACACATCCAT ATCCATGCACATCCATATCCACACACATCCATATCCACTCACCACACACA TCCATATCCACACACATCCATATCCACACACCACACACATCCATATCCAC ACACCACACACATCCATGTCCACACACATCCATATCCACACACCACACAC ATCCATATTCACACACATCCATATCCGCACACCACACACATCCATATTCA CACACATCCATATCCACGCACATCCATATCTATGCAC	ZNF407	ENSG00000215421.10	transcript	ENST00000299687.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
ABCB11_chr2_168915781_169036324	168975303	T T	TTATAAAT others(957): Show TTATAAATATATAAATATATACATATTTATATATTTATAGATAAATATAT ACATATTTATATATTTATAGATAAATATATAAATATTTATATATTTATAC ATAAATGTAAAAATATTTTTATATTTATACATAAATGTATAAATATTTTT ATATTTATACATAAATGTATAAATATTTTTATATTTATACATAAATGTAT AAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAG ATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTT ATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTAT AAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAG ATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTT ATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTAT AAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAG ATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTT ATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTAT AAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAG ATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTT ATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGAT AAATATATAAATATATAAATATTTATATATTTATAGATAAATATATAAAT ATATAAATATTTATATATTTATAGATAAATATATAAATATATATATATTT ATATATTTATAGATAAATATATAAATATATATATTTATATATTTATAGAT AAATATATAAATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	280	0.0036	964	c.130 others(983): Show c.1308+1273_1308+1274insTATATTTATATATTTATCTATAAATA TATAAATATATATATTTATATATTTATCTATAAATATATAAATATATATA TATTTATATATTTATCTATAAATATATAAATATTTATATATTTATATATT TATCTATAAATATATAAATATTTATATATTTATATATTTATCTATAAATA TAAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTA TACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATA AAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATC TATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTA TACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATA AAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATC TATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTA TACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATA AAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATC TATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTA TACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATA AAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATG TATAAATATAAAAATATTTATACATTTATGTATAAATATAAAAATATTTA TACATTTATGTATAAATATAAAAATATTTTTACATTTATGTATAAATATA TAAATATTTATATATTTATCTATAAATATATAAATATGTATATATTTATC TATAAATATATAAATATGTATATATTTATATATTTATA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(957): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAG GAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAG GGAAGGAAAGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAA AGGAGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGG AAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAG GGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGA AGGAAAGGAGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGG GAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAT GGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGG AGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAG GAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0065 a0002c0065	a0002c0065t0006 a0002c0065t0006	a0002c0065t0006g0176 a0002c0065t0006g0176	1	25	0.0400	964	c.259 others(985): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCATCCCTCCT TTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCC CATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCT CCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCA TCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCC CTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTT CCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCA TCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCC TCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCCTCCCATCCCTCCTTT CCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCA TCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCC CTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTT CCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCC TTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADGRE2_chr19_14727392_14783560	14763752	T T	TCTCCTCT others(957): Show TCTCCTCTCCTCCTCCTCCTCTTGTCCACCACCTCCTCCTCTCCTCCTCC TCTTCTGCTCCTCTTCCTCCTCTCCTCCTCCTCTCCACCTCCTCCTCCCC TTCTCCTCCTCCCCCTCCTCCTCCCCTCTCCTCCTCCCCCTCTCCTCCTT CCCCTCTCCTCCTCCCCCCTCCTCCTCCCCCTCTCCTCCTCCCCCTCTCC TCCTTCCCCTCTCCTCCTCCCCCATCCTCCTCCCCCTCTCCTCCTCCCCC TCCCCTCCTCCCCCTCTCCTCCTCCCCCTCCTCCTCCTCTCCTCCTCCTC CTCTCCTCCTCCTCCTCTCCTCCTCCTCTTTTCCTCCTCTCCTCCTCTCC TCTTCCTCTCCTTCTCCTCCCCTCATCCTGCTCCTCTCGTCCTCCTCTCC TCCTCCTTCTCTCCTCTTCCTGCTCCTCTCGTCCTCCTCTCCTCCTCCTC TCCTCTTCCTCTCCTGCCCCTCCTCCTCTCCTGCCCCTCCTCCTCTCCTC CCCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCTTCCTCCTCCTCT TCTCCTCCTCCTCTCCTCTTCCTCTCCTCCTCCTCTCTTCCTCCTCTCCT CCTCCTCCTCTTCTTTTCCTCTCCTCCTCCTCTCTTCCTTCTCTCCTCCT CTCCTCTTCCTCTCCTTCTCCTCTCCTCCTCCTCTCTTCCTCTCCTCCTC CTCTCCTCTTTTCCTCATCCTCTCCTCCTTCTCCTCTCCTCTGCCTCCTC CTCTCCTCCTCCTTGTCTCCTCCTCCTACCCTCCTCCTTCCCTCTTCCTC CTCTCCTCCTCCTCTTCTTTTCCTCCTCTCCTCCTTCTTGTCTCCTCCCC GTCCTCTTCTCCTTCCCTCTTCCTCCTCCACTCCTCCTCCTCTCCTCCTT CTCCTCCTCCTCCTCTCCTCCTTCTTCTCTCCTCCTCCACTCCTCCTCTT CCTCCTCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0066 a0003c0003t0011g0066	1	194	0.0052	964	c.108 others(981): Show c.1084+680_1084+681insGAGGAGGAGAGGAGGAAGAGGAGGAGTG GAGGAGGAGAGAAGAAGGAGGAGAGGAGGAGGAGGAGAAGGAGGAGAGGA GGAGGAGTGGAGGAGGAAGAGGGAAGGAGAAGAGGACGGGGAGGAGACAA GAAGGAGGAGAGGAGGAAAAGAAGAGGAGGAGGAGAGGAGGAAGAGGGAA GGAGGAGGGTAGGAGGAGGAGACAAGGAGGAGGAGAGGAGGAGGCAGAGG AGAGGAGAAGGAGGAGAGGATGAGGAAAAGAGGAGAGGAGGAGGAGAGGA AGAGAGGAGGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAGAAG GAAGAGAGGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGGAGAGGAGGAA GAGAGGAGGAGGAGAGGAAGAGGAGAGGAGGAGGAGAAGAGGAGGAGGAA GGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGA GGGGCAGGAGAGGAGGAGGGGCAGGAGAGGAAGAGGAGAGGAGGAGGAGA GGAGGACGAGAGGAGCAGGAAGAGGAGAGAAGGAGGAGGAGAGGAGGACG AGAGGAGCAGGATGAGGGGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGA GGAGGAAAAGAGGAGGAGGAGAGGAGGAGGAGGAGAGGAGGAGGAGGAGA GGAGGAGGAGGGGGAGGAGGAGAGGGGGAGGAGGGGAGGGGGAGGAGGAG AGGGGGAGGAGGATGGGGGAGGAGGAGAGGGGAAGGAGGAGAGGGGGAGG AGGAGAGGGGGAGGAGGAGGGGGGAGGAGGAGAGGGGAAGGAGGAGAGGG GGAGGAGGAGAGGGGAGGAGGAGGGGGAGGAGGAGAAGGGGAGGAGGAGG TGGAGAGGAGGAGGAGAGGAGGAAGAGGAGCAGAAGAGGAGGAGGAGAGG AGGAGGTGGTGGACAAGAGGAGGAGGAGGAGAGGAG	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	11/20			chr19	TogoVar
ADGRE2_chr19_14727392_14783560	14763755	C C	CCTCTCCT others(957): Show CCTCTCCTCCTCCTCCTCTTGTCCACCACCTCCTCCTCTCCTCCTCCTCT TCTGCTCCTCTTCCTCCTCTCCTCCTCCTCTCCACCTCCTCCTCCCCTTC TCCTCCTCCCCCTCCTCCTCCCCTCTCCTCCTCCCCCTCTCCTCCTTCCC CTCTCCTCCTCCCCCCTCCTCCTCCCCCTCTCCTCCTCCCCCTCTCCTCC TTCCCCTCTCCTCCTCCCCCATCCTCCTCCCCCTCTCCTCCTCCCCCTCC CCTCCTCCCCCTCTCCTCCTCCCCCTCCTCCTCCTCTCCTCCTCCTCCTC TCCTCCTCCTCCTCTCCTCCTCCTCTTTTCCTCCTCTCCTCCTCTCCTCT TCCTCTCCTTCTCCTCCCCTCATCCTGCTCCTCTCGTCCTCCTCTCCTCC TCCTTCTCTCCTCTTCCTGCTCCTCTCGTCCTCCTCTCCTCCTCCTCTCC TCTTCCTCTCCTGCCCCTCCTCCTCTCCTGCCCCTCCTCCTCTCCTCCCC CTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCTTCCTCCTCCTCTTCT CCTCCTCCTCTCCTCTTCCTCTCCTCCTCCTCTCTTCCTCCTCTCCTCCT CCTCCTCTTCTTTTCCTCTCCTCCTCCTCTCTTCCTTCTCTCCTCCTCTC CTCTTCCTCTCCTTCTCCTCTCCTCCTCCTCTCTTCCTCTCCTCCTCCTC TCCTCTTTTCCTCATCCTCTCCTCCTTCTCCTCTCCTCTGCCTCCTCCTC TCCTCCTCCTTGTCTCCTCCTCCTACCCTCCTCCTTCCCTCTTCCTCCTC TCCTCCTCCTCTTCTTTTCCTCCTCTCCTCCTTCTTGTCTCCTCCCCGTC CTCTTCTCCTTCCCTCTTCCTCCTCCACTCCTCCTCCTCTCCTCCTTCTC CTCCTCCTCCTCTCCTCCTTCTTCTCTCCTCCTCCACTCCTCCTCTTCCT CCTCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0013 a0003c0003t0013	a0003c0003t0013g0216 a0003c0003t0013g0216	1	44	0.0227	964	c.108 others(981): Show c.1084+677_1084+678insAAGGAGGAGGAGAGGAGGAAGAGGAGGA GTGGAGGAGGAGAGAAGAAGGAGGAGAGGAGGAGGAGGAGAAGGAGGAGA GGAGGAGGAGTGGAGGAGGAAGAGGGAAGGAGAAGAGGACGGGGAGGAGA CAAGAAGGAGGAGAGGAGGAAAAGAAGAGGAGGAGGAGAGGAGGAAGAGG GAAGGAGGAGGGTAGGAGGAGGAGACAAGGAGGAGGAGAGGAGGAGGCAG AGGAGAGGAGAAGGAGGAGAGGATGAGGAAAAGAGGAGAGGAGGAGGAGA GGAAGAGAGGAGGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAG AAGGAAGAGAGGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGGAGAGGAG GAAGAGAGGAGGAGGAGAGGAAGAGGAGAGGAGGAGGAGAAGAGGAGGAG GAAGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGGAGGAGAGGA GGAGGGGCAGGAGAGGAGGAGGGGCAGGAGAGGAAGAGGAGAGGAGGAGG AGAGGAGGACGAGAGGAGCAGGAAGAGGAGAGAAGGAGGAGGAGAGGAGG ACGAGAGGAGCAGGATGAGGGGAGGAGAAGGAGAGGAAGAGGAGAGGAGG AGAGGAGGAAAAGAGGAGGAGGAGAGGAGGAGGAGGAGAGGAGGAGGAGG AGAGGAGGAGGAGGGGGAGGAGGAGAGGGGGAGGAGGGGAGGGGGAGGAG GAGAGGGGGAGGAGGATGGGGGAGGAGGAGAGGGGAAGGAGGAGAGGGGG AGGAGGAGAGGGGGAGGAGGAGGGGGGAGGAGGAGAGGGGAAGGAGGAGA GGGGGAGGAGGAGAGGGGAGGAGGAGGGGGAGGAGGAGAAGGGGAGGAGG AGGTGGAGAGGAGGAGGAGAGGAGGAAGAGGAGCAGAAGAGGAGGAGGAG AGGAGGAGGTGGTGGACAAGAGGAGGAGGAGGAGAG	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	11/20			chr19	TogoVar
ADPRHL1_chr13_113394611_113458488	113419002	T T	TCCTTCCT others(957): Show TCCTTCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCC CTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTC CTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTT CCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCCTCCC TCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTC CTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTT CCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCTCCTTCCCTT CCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT CCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCC TTCCCCTCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT TCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCC TTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0027 a0002c0008t0027	a0002c0008t0027g0257 a0002c0008t0027g0257	1	82	0.0122	964	c.106 others(983): Show c.1061+3823_1061+3824insGAGGGAGGGAGGGAAGGAGGGAAGGA AAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAG GGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGAGGGGAAGGGGAAGAAAG GAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAA GAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGAG AGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAA AGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGA AGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGGAGG GAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGG AAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAG GAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGG GAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGA AGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAG GGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGAAGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
CACNA1H_chr16_1148106_1226768	1185961	T T	TGCGTAGG others(957): Show TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCG TAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCG TGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTC GGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGA GTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAG GTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGG GTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0054 a0001c0001t0015g0054	1	266	0.0038	964	c.300 others(981): Show c.300-8843_300-8842insACGTGGGGGGCGGGTGAGTAGACGGCAT GTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACG GTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTG AGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGT ACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGG TGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGGG CGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGG TGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648025	G G	GACACCCA others(957): Show GACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCA GTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACC CAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTG GAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAG GCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGA CGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGA CCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGC GGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGG TGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAA AGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCC GACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGA GACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGT GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGA AAAGGCCGCCGACGT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	385	0.0026	964	c.253 others(979): Show c.253-695_253-694insACGTCGGCGGCCTTTTCTCCACCGACCCCG CACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGT CTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGT CGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCC TTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCC ACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCC CGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGG GTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCAC GTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGG CCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCT CCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACT GGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCA CTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCACTGGGTGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CTCCCTCC others(957): Show CTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCT CTCCCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTC CCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCC ACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCT TCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTC CCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCA CCTCCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	68	0.0147	964	c.-42 others(975): Show c.-4215_-4214insTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCT CTCCACCTCCCCTCTCTCCCTCCCTCCCTCTCCACCTCCCCTCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCC CTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTC CCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCA CCTTCCCTGTCTCCACCTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(957): Show TCTCTCCCCCCCCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTCT CCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCCT CTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCTC TCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCCT GTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCCT CTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCTC TCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCC TCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTC TCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACC TCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCC TCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCC TCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCCC TCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCTCTCCTCCTC TCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCA TCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCC CTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCT CTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCTC CCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCCT TCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCCT CCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18999.hp1 NA18942.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0301 a0001c0001t0001g0264 a0001c0001t0001g0301	2	7	0.2857	964	c.380 others(981): Show c.380-7767_380-7766insCCCCCCTCTCCCTCTCCCTCACCTCCTC TCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTC TCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCAT CCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCC TTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACAT CCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCT CTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCT CTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCT CTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCC CTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCC CTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTC CTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCT CTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCT CTGCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCT CTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTC TTCCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCT TCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCC TCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTT CCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTC TCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(957): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCCTCTCCCTCTCCCCCCCTCCCTCTCTCCCTCTCCCTCACGTC CTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCC CCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTC CTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCT ACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCG TCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCT CCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCC CCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCTCTCCTCC TCTCCCTCTCTCCCTCTTCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCC ATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTC CCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCC TCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCT CCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCT TCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCCT CCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0292 a0001c0001t0003g0292	1	6	0.1667	964	c.380 others(981): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCCTCTCCCTCTCCCCCCCTCCCTCTCTC CCTCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTT CCTCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATC CCTCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTC CCCCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTC TCCCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTC CTCCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCC CCTCTCTCCCTCTCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCT CTCTGCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCTCTCCCCCTCTCCC TCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCT CTTCCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTC TTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTC CTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCT TCCCCATCTCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTC TCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(957): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCT CTCTCTCTGCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCC CTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTAC CTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTC CTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCC CTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCC CTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCTCTCCTCCT CTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCC ATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTC CCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCC TCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCT CCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCATCTCCCCCCT TCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCCT CCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	6	0.1667	964	c.380 others(981): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCC TCTCCCTCACGTCCTCTCTCTCTGCCCCCTCCCCCTCCCTCTCCCCTTCC TCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCC CCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTC CCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCT CCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCC TCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTC TCTGCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCC TCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCT CTTCCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTC TTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTC CTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCT TCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTC TCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(957): Show TCTCTCCCCCCTTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCC CTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTAC CTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTC CTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCC CTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCCCCTCTCCCC CTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCTCTCCTCCTC TCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCA TCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCC CTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCT CTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCTC CCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCCT TCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCCT CCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	6	0.1667	964	c.380 others(981): Show c.380-7767_380-7766insCCCCTTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCC TCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCC CCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTC CCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCT CCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCC TCTTCCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCT CTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCT CTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTC TTCCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCT TCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCC TCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTT CCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTC TCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613681	C C	CACCTCCT others(957): Show CACCTCCTCTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTC CTCTCCCTCTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCT CTCCCCCATCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCC CCCTCCCCCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCT CCCTCACATCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCTCCCT CTCTCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTC CCCTTCCTCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTC TAATCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTC CTCTCCCCCTCTCCCTCTCTACCTCTCCCCCTCTACCTCTCCCCGTCTCC CTCTCTCCCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCC CTCTCCTCCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCC CTCCCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCT CTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCC CTCTCCCTCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTC CCACCCTCTTCCTCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCC TCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCC TCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCCT CCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTC TCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCC CTCTCCTCCTCTCTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0133 a0001c0001t0016g0133	1	314	0.0032	964	c.380 others(981): Show c.380-7748_380-7747insACCTCCTCTCTCTCTCCCCCTCTCCCTC TCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCCTCTCCC CTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCTCTCCCT CTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCCTGTCTC CCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCCTCTCCC CCTCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCTCTCTCTC TCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTCC TCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTCTC TCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTCCC CCTCTACCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCTC TCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCCC CCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCCCTCTCTC CCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTC TCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATCTCCC TCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCCC CTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCT CCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCC TCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTC CCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCT CCCCCTCCCTCTCCCCCTCCCCTCTCCTCCTCTCTA	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10			chr1	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(957): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG TGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATA GATAATATGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATAT GGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGG GGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGA TAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGG GCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGT GTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATAT GGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAG GGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTA GATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGG TGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp2 HG03453.hp2 HG02280.hp2 HG02886.hp2 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0009 a0001c0006 a0001c0009	a0001c0006t0019 a0001c0009t0003 a0001c0009t0023 a0001c0006t0019 a0001c0009t0003 a0001c0009t0023	a0001c0006t0019g0264 a0001c0009t0003g0261 a0001c0009t0023g0263 a0001c0006t0019g0264 a0001c0009t0003g0261 a0001c0009t0023g0263	3	15	0.2000	964	c.109 others(983): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTG GTGCAGTTTATAGATAATATGGGGGCGGGGCGGTGGTGCAGTTTATAGAT AATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGG GCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTT TATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGG GGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGT ATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAA TATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTA GGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTT TATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATG GGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGG GTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAG ATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DLGAP2_chr8_732628_1713476	1384506	G G	GTGCCCGG others(957): Show GTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGG CCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGGCCCCTGAG AACTTGGTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGAT GCACAGTTACCCCGGCCTCTGCCCGTCCCCTGAGAACTTGGTGCACAGTT ACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGC CTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCC GTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTG AGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTG GTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTGGTGCACAG TTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCG GCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGC CTGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATACCCGGCCCC TGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCTGTCCCCTGAGAACT TGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTGGTGCAC AGTTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCC CGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTAT GCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCAGCCTGTGCCCGTCC CCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGAA CTTGGTGCAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCAC AGTTACCCCGGCCTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	39	0.0256	964	c.107 others(985): Show c.107-116693_107-116692insCTGCCCGTCCCCTGAGAACTTGGT GCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTT ACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGC CTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCC GGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTG AGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTG GTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAG TTACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCG GCCTATGCCTGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATAC CCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCTGTCCCC TGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACT TGGTGCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCAC AGTTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCC CGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCAGCCTGT GCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGTCC CCTGAGAACTTGGTGCAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACT TGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTGGTGCAC AGTTACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCC CGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGT GCCCGTCCCCTGAGAACTTGATGCACAGTTACCCCGGCCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1384506	G G	GTGCCCGG others(957): Show GTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGG CCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGGCCCCTGAG AACTTGGTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGAT GCACAGTTACCCCGGCCTCTGCCCGTCCCCTGAGAACTTGGTGCACAGTT ACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGC CTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCC GTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGGCCCCTG AGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTG GTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTGGTGCACAG TTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCG GCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGC CTGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATACCCGGCCCC TGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCTGTCCCCTGAGAACT TGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTGGTGCAC AGTTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCC CGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTAT GCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCAGCCTGTGCCCGTCC CCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGAA CTTGGTGCAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCAC AGTTACCCCGGCCTA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0035 a0002c0001t0005g0035	1	39	0.0256	964	c.107 others(985): Show c.107-116693_107-116692insCTGCCCGTCCCCTGAGAACTTGGT GCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTT ACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGC CTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCC GGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTG AGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTG GTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAG TTACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCG GCCTATGCCTGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATAC CCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCTGTCCCC TGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACT TGGTGCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCAC AGTTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCC CGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCAGCCTGT GCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGTCC CCTGAGAACTTGGTGCAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACT TGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTGGTGCAC AGTTACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCC CGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGT GCCCGTCCCCTGAGAACTTGATGCACAGTTACCCCGGCCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1384637	C C	CGTCCCCT others(957): Show CGTCCCCTGAGAACTTGATGCACAGTTACCCCGGCCTCTGCCCGTCCCCT GAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGAACTT GGTGCACAGTTACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACA GTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCC GGCCTATGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTG CCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCC CTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAAC TTGGTGCACAGTTACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCA CAGTTACCCCGGCCTATGCCTGTCCCCTGAGAACTTGGTGCACAGTTACC CCGGCCTATACCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTA TGCCTGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGGC CCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGA ACTTGGTGCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTG CACAGTTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTA CCCCAGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCC TATGCCCGTCCCCTGAGAACTTGGTGCAGTTACCCCGGCCTGTGCCCGTC CCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGA ACTTGGTGCACAGTTACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTG CACAGTTACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTA CCCCGGCCTGTGCCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02922.hp2 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0019 a0002c0001t0002 a0002c0001t0019	a0002c0001t0002g0032 a0002c0001t0019g0031 a0002c0001t0002g0032 a0002c0001t0019g0031	2	40	0.0500	964	c.107 others(985): Show c.107-116693_107-116692insCTGCCCGTCCCCTGAGAACTTGGT GCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTT ACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGC CTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCC GGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTG AGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTG GTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAG TTACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCG GCCTATGCCTGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATAC CCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCTGTCCCC TGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACT TGGTGCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCAC AGTTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCC CGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCAGCCTGT GCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGTCC CCTGAGAACTTGGTGCAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACT TGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTGGTGCAC AGTTACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCC CGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGT GCCTGTCCCCTGAGAACTTGATGCACAGTTACCCCGGCCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPP6_chr7_154047398_154899285	154779089	C C	CTCTACCA others(957): Show CTCTACCACCACCACCACCACCATCACCTCCACCACCACCACCACAACCA CCCCCACCATCACCTCCACCACCACCACCACAACTACCCCCACCATCACC ACCATCACCTCCATCACCTCCACAACCTCTACCACCACCACCACCACCAT CACCTCCACCACCACCACCACAACCACCCCCACCATCACCTCCAAAACCT CCACCACCAGCACCACCACCATCACTTCCACCACCACCACAACTACCCCC ACCATCACCTCCATCACCTCCACAACCTCTACCACCACCACCACCATCAT CACCTCCACCACCATCACCACTATCACCACCAACCCATCATCACCACCTC CACCACCACCACCATCACCCCCCCATCACCTCCACCACCACCACCACAAC CACCCCACCATCACCTCCATCACCTCCACAATCTCCACCGCCAGCATCAC CACCATCACCTCCACCACCACCACCACAACTACCCCCACCATCACCTCCA TCACCTCCACAACCACCACCACCATCATCACCTCCACCACCATCACCACT ATCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCACCCCC CCATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCCATCA CCTCCACAATCTCCACCGCCAGCATCACCACCATCACCTCCACCACCACC ACCACAACTACCCCCACCATCACCTCCATCACCTCCACAACCACCACCAC CATCATCACCTCCACCACCATCACCACTATCACCACCAACCCATCATCAC CACCTCCACCACCACCACCATCACCCCCACCGTCACCTCCACCACCACCT CCATTACCTCCACAACTTCTACCACCACCACCCCCACCACCACCAGCACC ACTATCACCACTATCACCACCACCCCCACCATCACCTCCACACCACCTCC ATTACCTCCACAATT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0028 a0002c0004t0006g0028	1	2	0.5000	964	c.113 others(983): Show c.1136+6165_1136+6166insACCATCACCTCCACCACCACCACCAC AACCACCCCCACCATCACCTCCACCACCACCACCACAACTACCCCCACCA TCACCACCATCACCTCCATCACCTCCACAACCTCTACCACCACCACCACC ACCATCACCTCCACCACCACCACCACAACCACCCCCACCATCACCTCCAA AACCTCCACCACCAGCACCACCACCATCACTTCCACCACCACCACAACTA CCCCCACCATCACCTCCATCACCTCCACAACCTCTACCACCACCACCACC ATCATCACCTCCACCACCATCACCACTATCACCACCAACCCATCATCACC ACCTCCACCACCACCACCATCACCCCCCCATCACCTCCACCACCACCACC ACAACCACCCCACCATCACCTCCATCACCTCCACAATCTCCACCGCCAGC ATCACCACCATCACCTCCACCACCACCACCACAACTACCCCCACCATCAC CTCCATCACCTCCACAACCACCACCACCATCATCACCTCCACCACCATCA CCACTATCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCA CCCCCCCATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTC CATCACCTCCACAATCTCCACCGCCAGCATCACCACCATCACCTCCACCA CCACCACCACAACTACCCCCACCATCACCTCCATCACCTCCACAACCACC ACCACCATCATCACCTCCACCACCATCACCACTATCACCACCAACCCATC ATCACCACCTCCACCACCACCACCATCACCCCCACCGTCACCTCCACCAC CACCTCCATTACCTCCACAACTTCTACCACCACCACCCCCACCACCACCA GCACCACTATCACCACTATCACCACCACCCCCACCATCACCTCCACACCA CCTCCATTACCTCCACAATTTCTACCACCACCACCACC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXD3_chr9_137301896_137428162	137328603	T T	TACACGGG others(957): Show TACACGGGACTACACGGGGCTACACGGGGCTACACGGGACTACACGGGAC TACACGGGGCTACACGGGACTACACAGGGTCACACGGGACTACACGGGGC TACACGGGGCTACACGGGGCTACACGGGGCTACACGGGACTACACAGGGT CACACGGGACTACACGGGACTACACGGGGCTACACGGGGCTACACGGGGC TACACGGGAACTACACGGGAGCTACACGGGACTACACGGGGCTACACGGG ACTACACGGGGCTACACGGGGCTACACGGGAGCTACACGGGACTACACGG GGCTACACGGGGCTACACGGGAGCTACACGGGGCTACACGGGGCTACACG GGGCTACACGGGAGCTACACGGGGCTACACGGGGCTACACGGGAGCTACA CGGGAGCTACACGGGGCTACACGGGACTACACGGGGCTACACGGGGCTAC ACGGGAGCTACACGGGGCTACACGGGGCTACACGGGGCTACACGGGAGCT ACACGGGGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGGCT ACACGGGAGCTACACGGGAGCTACACGGGGCTACACGGGAGCTACACGGG AGCTACACGGGGCTACACGGGAGCTACACGGGACTACACAGGGTCACACG GGACTACACGGGACTACAGGGGACTACACGGGGTCACACGGGACTACACG GGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACG GGACTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACG GGGCTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACG GGACTACACGGGGTCACACGGGACTACACGGGACTACACGGGGCTACACG GGACTACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACG GGACTACACAGGGTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0014 a0014	a0014c0025 a0014c0025	a0014c0025t0001 a0014c0025t0001	a0014c0025t0001g0072 a0014c0025t0001g0072	1	72	0.0139	964	c.199 others(983): Show c.1999-4461_1999-4460insGACCCTGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCC GTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCC GTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCC GTGTGACCCCGTGTAGTCCCCTGTAGTCCCGTGTAGTCCCGTGTGACCCT GTGTAGTCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCT CCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCTCCCGTGTAGCCCCGTGTA GCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCTCCCGTGT AGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCCCCGTG TAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCTCCCG TGTAGCCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCC GTGTAGCCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCC CGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCC CCGTGTAGTCCCGTGTAGCTCCCGTGTAGTTCCCGTGTAGCCCCGTGTAG CCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCTGTGTAG TCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAG TCCCGTGTGACCCTGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAG TCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
KIRREL3_chr11_126418358_127005770	126632686	G G	GCCACAAG others(957): Show GCCACAAGCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGC AGCCCTGGGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACA TGGGTGAGAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGT AAAGCCTGCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGG GAGATAAAAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCT AATATGCAGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAG AAGAAGAAAAAGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAACGGTAGCGG CTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTTATGCAGCTCAGATG CCCACTCCATGACAGGTATGAGCTGACCTGGGCATGCATTCTCTGCAGGG AGACAATTACTGTTGCTGTGTGTGACAGGGTTGATACATCCTGCTGAAGG TAGGCATCTCTGTGTTTCCTTATTTTGTAATCCTTTCAAGCCTTCTGAAT CCAGCCTCTGTCTCCAGCTGTCCAGTTCTGGACAAGCCTGCTACTCAGTG GAACCCCTCGTTTCTACCCCCAGGTGGTCTAGGCACTGAGGCTACAGAGG GCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCCTTCCT TTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTC CTTTCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTC TCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0049 a0001c0001t0046g0049	1	16	0.0625	964	c.56- others(981): Show c.56-69775_56-69774insGGAGAGAGAGAGAGAGAGAGAAAAGAAG AAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAAGGAAGGAACGGT AGCGGCTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTCTGTAGCCTC AGTGCCTAGACCACCTGGGGGTAGAAACGAGGGGTTCCACTGAGTAGCAG GCTTGTCCAGAACTGGACAGCTGGAGACAGAGGCTGGATTCAGAAGGCTT GAAAGGATTACAAAATAAGGAAACACAGAGATGCCTACCTTCAGCAGGAT GTATCAACCCTGTCACACACAGCAACAGTAATTGTCTCCCTGCAGAGAAT GCATGCCCAGGTCAGCTCATACCTGTCATGGAGTGGGCATCTGAGCTGCA TAAGGGCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCC TTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCT TCCTTTCCTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCTCT CTCTCTCTCTCCCCACAAGCCTCCTCCACTGCATATTAGCCACTGCTGTA ACAAGTATACTAATGTCTCCTCATCAATTTTTATCTCCCAATGCCCAGTA TGCAGCAACGATATGAACAAGAGTTCAGGCAGGCTTTACAGGATTCCCAC CAGGTTGGGTGGGAGGTGCGGACATGCTTCTCACCCATGTTTTCTGGCAT TCGCAGTCCCTCACTCAATTGCCCCCTCCCCAGGGCTGCTCTTGGGCAGG ACAGAAAAGCAGCTGCACAGGGAAGGAGGCTTGTGG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126632686	G G	GCCACAAG others(957): Show GCCACAAGCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGC AGCCCTGGGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACA TGGGTGAGAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGT AAAGCCTGCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGG GAGATAAAAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCT AATATGCAGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAG AAGAAGAAAAAGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAACGGTA GCGGCTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTTATGCAGCTCA GATGCCCACTCCATGACAGGTATGAGCTGACCTGGGCATGCATTCTCTGC AGGGAGACAATTACTGTTGCTGTGTGTGACAGGGTTGATACATCCTGCTG AAGGTAGACATCTCTGTGTTTCCTTATTTTGTAATCCTTTCAAGCCTTCT GAATCCAGCCTCTGTCTCCAGCTGTCCAGTTCTGGACAAGCCTGCTACTC AGTGGAACCCCTCGTTTCTACCCCCAGGTGGTCTAGGCACTGAGGCTACA GAGGGCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCCT TCCTTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTC CTTTCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTC TCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0006 a0001c0002t0024g0006	1	16	0.0625	964	c.56- others(981): Show c.56-69775_56-69774insGGAGAGAGAGAGAGAGAGAGAAAAGAAG AAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAAGGAAGGAACGGTAGCG GCTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTCTGTAGCCTCAGTG CCTAGACCACCTGGGGGTAGAAACGAGGGGTTCCACTGAGTAGCAGGCTT GTCCAGAACTGGACAGCTGGAGACAGAGGCTGGATTCAGAAGGCTTGAAA GGATTACAAAATAAGGAAACACAGAGATGTCTACCTTCAGCAGGATGTAT CAACCCTGTCACACACAGCAACAGTAATTGTCTCCCTGCAGAGAATGCAT GCCCAGGTCAGCTCATACCTGTCATGGAGTGGGCATCTGAGCTGCATAAG GGCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCCTTCC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCT TCCTTTCCTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCTCT CTCTCTCTCTCCCCACAAGCCTCCTCCACTGCATATTAGCCACTGCTGTA ACAAGTATACTAATGTCTCCTCATCAATTTTTATCTCCCAATGCCCAGTA TGCAGCAACGATATGAACAAGAGTTCAGGCAGGCTTTACAGGATTCCCAC CAGGTTGGGTGGGAGGTGCGGACATGCTTCTCACCCATGTTTTCTGGCAT TCGCAGTCCCTCACTCAATTGCCCCCTCCCCAGGGCTGCTCTTGGGCAGG ACAGAAAAGCAGCTGCACAGGGAAGGAGGCTTGTGG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATA others(957): Show TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATCCATATA TATATATCCATATATATATATATATCCATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATCCATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TCCATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATCCATATATATATATATCCATA TATATATCCATATATATATATATCCATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATATCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0225 a0002c0002t0002g0225	1	207	0.0048	964	c.126 others(981): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATGGATATATATATATATGGATATATATATATGGATAT ATATATATATGGATATATATATATGGATATATATATATATGGATATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATATAT GGATATATATATGGATATATATATATATGGATATATATATGGATATATAT ATATATGGATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATGGATATATATATGGAT ATATATATATGGATATATATATATATGGATATATATATATGGATATATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT GGATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATGGATATATATATATATATGGATATATATATATGGATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATAT GGATATATATATATATGGATATATATATATGGATATATATATATGGATAT ATATATATATGGATATATATATATATGGATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(957): Show TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATATCCATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATCCATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATCCATATATATATATATCCATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0249 a0002c0002t0002g0249	1	207	0.0048	964	c.126 others(981): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATGGATAT ATATATATATGGATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATGGATAT ATATATGGATATATATATATGGATATATATATATATGGATATATATATAT GGATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATGGATATATATATGGATATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATATATGGAT ATATATATATGGATATATATATATATGGATATATATATATGGATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATGGAT ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATATGGATATATATATATATGGATATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATGGATATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(957): Show CCTCCCCCTCTCCCTCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCT CCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTC CCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGT CCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCC CCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCC CCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCTTCCCCC TCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCT CTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCT TCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCT CCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCTC TCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTC TCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCTT CCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCCC CACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCCCATCTCCCCCT CCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTC CCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCCTCCCC CTCTCCCCCTCCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCTCCTCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG03225.hp2 others(2): Show HG02109.hp2 HG02615.hp2 HG03225.hp2 HG03486.hp1 NA20129.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0023 a0001c0001 a0011c0023	a0001c0001t0001 a0001c0001t0014 a0001c0001t0056 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0056 a0011c0023t0001	a0001c0001t0001g0049 a0001c0001t0001g0089 a0001c0001t0014g0065 others(2): Show a0001c0001t0001g0049 a0001c0001t0001g0089 a0001c0001t0014g0065 a0001c0001t0056g0028 a0011c0023t0001g0025	5	10	0.5000	964	c.100 others(983): Show c.1005+3279_1005+3280insTCCCTCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTC CCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCA CTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCT CCCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCC ATCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTT CCCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCT CTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCC ATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCC CATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCC TCTTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCC CCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCT CCCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTC TCCCTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCAC CCCTCCCCCTCCCCCTCTCCCCCTCCCCCCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCCCCCTCTCCCCCTCTCCTCCTCCCCCTCTCCCCCTCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(957): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCCTC CCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCT CCCCCCCTCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCTC CCTCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCC CCTCCCCCTCCCTCCCCCTCCCCTCCCTCCCCCTCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCTCTCCCCTCCCTCCCC CTCCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCC CTCCCCCCTTCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCCCCTCCC CTCCACCCTCCCCCTCTCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCTT CCCCTCCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCCCTCCCCT CCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCC CTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCC CCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTCCCTT CCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCTCCCC CCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTC TCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCT TCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCACC CCTCCCCTCCCCCAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0172 a0002c0014t0001g0172	1	8	0.1250	964	c.115 others(981): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCCTCCCTCCCCCTGCCCTCCCCCCTCCC CTCCCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCC CCTCCCCCCCTCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CTCCCTCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCCTCCCTCCCCCTCCCCTCCCTCCCCCTCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCTCTCCCCTCCCTC CCCCTCCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCC CCCCTCCCCCCTTCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCCCCT CCCCTCCACCCTCCCCCTCTCCTCCCCTCCCTTCCCCTCCCCTCCCCTCC CTTCCCCTCCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCCCTCC CCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATC CCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGCC TCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTCC CTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCTC CCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTC CTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTC CCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCC ACCCCTCCCCTCCCCCACCCCTCCCCTCCCCTCCCC	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(957): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGG AGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGA GGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGG GGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAG AGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAG GAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAA GGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGG GGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGA GCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAG AAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAG AAGAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGG CGGAGCAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGA AAAGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGA GGAGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGA AAGGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGG GGAGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGA AGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG01123.hp2 others(13): Show HG00639.hp1 HG00642.hp2 HG01123.hp2 HG02015.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp1 HG02615.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03195.hp2 HG03516.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0011 a0017 a0034	a0001c0001 a0001c0002 a0001c0007 others(6): Show a0001c0001 a0001c0002 a0001c0007 a0004c0023 a0005c0005 a0005c0055 a0011c0043 a0017c0017 a0034c0027	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0004c0023t0001 a0005c0005t0001 a0005c0055t0001 a0011c0043t0003 a0017c0017t0003 a0034c0027t0001	a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0126 others(12): Show a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0126 a0001c0001t0001g0177 a0001c0001t0001g0204 a0001c0002t0001g0088 a0001c0002t0001g0176 a0001c0007t0001g0018 a0004c0023t0001g0244 a0005c0005t0001g0002 a0005c0055t0001g0044 a0011c0043t0003g0125 a0017c0017t0003g0127 a0017c0017t0003g0128 a0034c0027t0001g0025	16	23	0.6957	964	c.641 others(979): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTC CCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCT CCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCT CCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCG CCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCC TCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTT TCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(957): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGGAGGAGGC GGAGCAGTAGGGAGAGAAGAGTGAAGAGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGAGGGAGAGAAGGGGGGAGGA GGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAG GGAGAGGAGGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGG GGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAG AGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAG GAGGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAA AGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAG GGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGAAAAGGGGAGGAGGCGGA GCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAG AAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAG AAGAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGG CGGAGCAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGA AAAGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGA GGAGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGA AAGGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGG GGAGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGA AGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0005 a0005	a0005c0074 a0005c0074	a0005c0074t0001 a0005c0074t0001	a0005c0074t0001g0111 a0005c0074t0001g0111	1	8	0.1250	964	c.641 others(979): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTC ACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCC CCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCCTCCTCCCCCCTCCTCTC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCCTCCCCCCCTCCTCTCCCTCTTCACTCTTCTC TCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTC TCCCTCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCG CCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCC TCCTCTCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTT TCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(957): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGTGAGAGAAGGGGGGAGGAGG GGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAG AGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAG GAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGG AGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGG GGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAG AGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAG GAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAA GGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGG GGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGA GCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAG AAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAG AAGAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGG CGGAGCAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGA AAAGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGA GGAGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGA AAGGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGG GGAGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGA AGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0001 a0001c0049t0001	a0001c0049t0001g0102 a0001c0049t0001g0102	1	8	0.1250	964	c.641 others(979): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTC CCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCT CCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCT TCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTC TCTCACTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(957): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAG GGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGG GGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGG GAGGGGGAGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGG GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAG GGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAG GGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGG GGGAGGGAGGAGGGAGGGGAGTGGAGGGGAGGGGGAGGGAGGGGAGGGGA GGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAGTGGAGGGG GAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGA GGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGG AGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	213	0.0047	964	c.250 others(979): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCT CCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCT CCCCCTCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTCC CCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCTC TTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTC TTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCTCC CCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCATCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCTCCTCCCCTCCCCCCTCCCTCCCCCTCCCCCTCCATCCTCCC CTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCC CCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCC CCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTT CCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(957): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAG GGGGAGGGGGAGGGGGAGGGGAGGAGGGGAGGAAGGGGGAGGGGGAGGGA GGAGGGGAGGAAGGGGGAGGGGGAGGGAGGGGAGGGGGGAGGGGAGGAGG TGGGAGGGGGAGGGGAGGATGGGGAGGGGAGAAGGGGGGGGAGGAGGGGA GGGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGG GGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAG GGGAGGGGAGGAGGGGAGGAGGGGGAGGGGAGGAGGAGGAGGGGAGGAGG GGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGTAGGGGGAGGGGGGGAGGG GGAGGGGAGGGGGGAGGAAGGGGGAGGGAGGAGGGGAGGAAGGGGGAGGG AGGAGGGGAAGAAGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGAGGAG GGGGGAGGGGAGGAGGGGTGAGAGGAGGAGAGAGGAGGGGAGGAGGGGGA GGGGAGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGGAGGGGAG GAGGGGAGGGGAGGAGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAGG GGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGGA GGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGGA GGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAGG GAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGGA GAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0153 a0001c0008t0001g0153	1	4	0.2500	964	c.279 others(979): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTC TCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCC CTTCCTTTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCT CCTCTCTCCTCCTCTCACCCCTCCTCCCCTCCCCCCTCCTCCCCTCCCCC TCCCCCTCCCTCCCCCTCCCCCTTCTTCCCCTCCTCCCTCCCCCTTCCTC CCCTCCTCCCTCCCCCTTCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCCC CCTACTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CTCCTCCCCTCCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCCC CCTTCTCCCCTCCCCATCCTCCCCTCCCCCTCCCACCTCCTCCCCTCCCC CCTCCCCTCCCTCCCCCTCCCCCTTCCTCCCCTCCTCCCTCCCCCTCCCC CTTCCTCCCCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCC TCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTTCCCCTCCCC TCCCCTTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCCTT CCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NXN_chr17_794310_984776	841572	G G	GGCGCATC others(957): Show GGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCA CGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACGCCGGCGAGC AGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCT GACCACGGCGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGC ATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGG GCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTC CCCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACG GCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACA CGGGCGAGCAGGTCCCCCCGACCACGGAGCATCTCACACGGGCGAGCAGG TCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCACCCTGACC ACGGCGCATCTCACATGGGCGAGCAGGTCCTCCCGACCACGGCGCATCTC ACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGC AGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCT GACCACGGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCA TCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGC GAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCA CCCTGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCTGACCACAG CGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACAC GGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGG TCCACCCTGACCACA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0150 a0001c0001t0022g0150	1	230	0.0043	964	c.361 others(983): Show c.361-15495_361-15494insTGTGGTCAGGGTGGACCTGCTCGCCC GTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGG GGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTC GCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGT CGGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCT GCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCG TGGTCGGGAGGACCTGCTCGCCCATGTGAGATGCGCCGTGGTCAGGGTGG ACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCC GTGTGAGATGCTCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCG CCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGG GGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGGGGACCTGCTCGC CCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGAT GCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTC AGGGGGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTCAGGGGGGACCT GCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCGGCG TGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCGCC GTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841591	A A	AGCAGGTC others(957): Show AGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCC CCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCTCCCGACCATGGA GCATCTCACACGGGCAAGCAGGTCCACCCTGACCACGGCGCATCTCACAC GGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCAAGCAGG TCCTCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACC ACGGAGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGAGCATCTC ACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAG CAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCC GACCACAGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGC ATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACGCCGG CGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCC CCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACA GCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACAGCGCATCTCAC ACGGGCGAGCAGGTCCCCCCGACCACAGCGCATCTCACACGGGCAAGCAG GTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGAC CATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATC TCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGG GCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCC TGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGC ATCTCACACCCACAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	205	0.0049	964	c.361 others(983): Show c.361-15514_361-15513insCTGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTG AGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTG GTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGAC CTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTTGCCCG TGTGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGC TGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCGGGA GGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCG CCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGA TGCTCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTC AGGGGGGACCTGCTCGCCGGCGTGAGATGCTCTGTGGTCGGGGGGACCTG CTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGT GAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCG TGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCTCCGTGGTCAGGGTGG ACCTGCTCGCCCGTGTGAGATGCTCCATGGTCGGGAGGACCTGCTTGCCC GTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCAGGGTGGACCTGCTTGCCCGTGTGAGATGCTCCATGGTCGG GAGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCT CGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(957): Show TGGGGAGAGAAGGGGAGGGAGAAGGGGATGGGGAGAGAAGGGGATGGGGA GAGAAGGGGATGGGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGA GAAGGGGAGGGGGAGACAAGGGGGAGAGAAGGGGAGGGGGAGACAAGGGG GAGAGAAGGGGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGGGAGAGGGG GAGGGGGAGAGAGGGGGAGAGAAAGGGAGGGGGAGAGAGGGGGAGAGGGG GAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAG GGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGG AGGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGG GAGAGGGGGAGAGAAGGGGAGAGAAGGGGAGGGAGAGGAGGGGGAGGAGG GGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGGAGG GGGAGAGGGGGAGAGGGGGAGGAGGGGGGAGGGGGAGAGGGGGAGAGGGG GAGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGG GAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAATGGGAAGGGGCA AGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAG AGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAG AGGGTGGGCAAGAGAGAGAGGGCAAGGGCGAGAGAGAGAGAGGGCGGGCG AGAGAGGGCGGGCGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGG CGGGCAAGAGAGAGAGAGAGAGGGCGGTCAAGAGAGAGAGAGAGGGCGGG CAAGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAG GGAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0232 a0003c0004t0001g0232	1	24	0.0417	964	c.371 others(981): Show c.3718+654_3718+655insTTTCTCTCCCTCTCCCTCTCGCCCTCTC CCTCTCTCTCCCTCTCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTC TCTCTCTTGACCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTC TCTTGCCCACCCTCTCTCTCTCTCGCCCGCCCTCTCTCGCCCGCCCTCTC TCTCTCTCGCCCTTGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTCTCGC CCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTCACTC GCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTCCCAT TTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCT CCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCTCCT CCCCCTCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTC CTCTCCCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCCTCCCCC TCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCCT CCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCT CTCTCCCCCTCCCTTTCTCTCCCCCTCTCTCCCCCTCCCCCTCTCCCCCC CTCTCCCCCTCCCCTTCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCC CCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCC CACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTT CTCTCCCCATCCCCTTCTCCCTCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCTATC others(957): Show CATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCTATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATC CATCCATCCATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCTATCCA TCCATCCATCCATCTACCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCTATCCATCTATCCATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATC TATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCTATCCA TCCATCCATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATC CATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0059 a0002c0003t0006g0059	1	273	0.0037	964	c.107 others(981): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGG ATGGATGGATGGGTAGATGGATGGATGGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATAGATGGAT GGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATAGATGGATGG ATAGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATAGATGGATAGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197206	C C	CATCCATC others(957): Show CATCCATCCATCCATCCATCTATCCATCCATCTACCCATCCATCCATCCA TCCATCCATCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCTATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCA TCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATC CATCCATCCATCCATCCATCCATCTAACCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATC CATCTATCCATCCATCTATCCATCCATCCATCCATCTATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATCCATC CATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATTCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCTATCCAGTGTTGGTCCATCTACCATCCATCATCCTCCCCCTC CTCTTTCTCATGGTA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0053 a0002c0003t0001g0053	1	224	0.0045	964	c.107 others(981): Show c.1075+170_1075+171insTACCATGAGAAAGAGGAGGGGGAGGATG ATGGATGGTAGATGGACCAACACTGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATGGTTAGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATAGAT GGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGAAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGAT GGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGGTGGATGGATGGATGGATGGATGGAT GGGTAGATGGATGGATAGATGGATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A3_chr5_1387794_1450440	1422856	C C	CCACAGTG others(957): Show CCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGT ACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCC AGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCAC GCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTAC CCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAC AGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCAT GCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGC CCACCGCTGCCCACAGTACTGCCCAAGGTGCTGGGTGCCCACCGCTGCCC ACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAGTGCTGCCCAC GCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCCC ACCGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCAC GCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTGCCC ACCGATGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAC AGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGCCCAA GGTGCTGGGTAACCACCGCTGCCCACAGTGCTGCTCACGGTGCTGGGTAC CCACCGCTGCCCACAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCC ACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCC ACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 NA18522.hp2 HG02258.hp1 HG02280.hp1 NA18522.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0011 a0001c0009t0005g0022 a0001c0009t0005g0042 a0001c0009t0005g0011 a0001c0009t0005g0022 a0001c0009t0005g0042	3	205	0.0146	964	c.654 others(979): Show c.654-843_654-842insTGGGCAGCGGTGGGCACCCAGCAGCGTGGG CAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCACCGTGGGCAGCACTGTGGGCAGCGGTGGGTACCCAGCACCGTG AGCAGCACTGTGGGCAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTG GGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGG CACCCAGCAGCGTGGGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCG TGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTG GGCAGCGGTGGGCACCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCG TGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGG CAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTG GGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGG CACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTG GGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTG GGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCA CCCAGCACCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGG CAGCACTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCA GCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(957): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATATATAATATATTATATAA CTATATATTATATATATATTATATATTATATAACTATATATTATATATTA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATAATATATATATTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATATATATTATATATTATATAACTAT ATATTATATATATATATTATATATTATATAACATATATTATATATATATA TTATATATTATATAACTATATATTATATATATATTATATATTATATAACT ATATATTATATATATATTATATATTATATAACTATATATTATATATATAT TATATATTATATAACTATATATTATATATAATATATATATTATATATTAT ATATAATATATATATTATATATTATATAACTATATATTATATATAATATA TATATTATATATTATATAACTATATATTATATATAATATATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	149	0.0067	964	c.73 others(975): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATATA TAATATATTATATAACTATATATTATATATATATTATATATTATATAACT ATATATTATATATTATATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATATATTATATATATATATTAT ATATTATATAACTATATATTATATATATATATTATATATTATATAACATA TATTATATATATATATTATATATTATATAACTATATATTATATATATATT ATATATTATATAACTATATATTATATATATATTATATATTATATAACTAT ATATTATATATATATTATATATTATATAACTATATATTATATATAATATA TATATTATATATTATATATAATATATATATTATATATTATATAACTATAT ATTATATATAATATATATATTATATATTATATAACTATATATTATATATA ATATATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(957): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATATATATTATATATTATAT AACTATATATTATATATATATTATATATTATATAACTATATATTATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATATATATTATATATTATATAACTATATA TTATATATATATATTATATATTATATAACTATATATTATATATATATATT ATATATTATATAACATATATTATATATATATATTATATATTATATAACTA TATATTATATATATATATTATATATTATATAACTATATATTATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACATATATTATATATAATATATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	149	0.0067	964	c.73 others(975): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATATA TATTATATATTATATAACTATATATTATATATATATTATATATTATATAA CTATATATTATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATATATATTATATA TTATATAACTATATATTATATATATATATTATATATTATATAACTATATA TTATATATATATATTATATATTATATAACATATATTATATATATATATTA TATATTATATAACTATATATTATATATATATATTATATATTATATAACTA TATATTATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACATATATTATATATA ATATATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
WDR7_chr18_56646359_57034792	57024580	A A	AATTTCAC others(957): Show AATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATG ATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCC TTACAGGATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGA GCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTC ACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTT ATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGA TATGTGAGCTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTAT TCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTACAG GATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAGCTATG ATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCC CTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTG AACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAG ACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTT CACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGGTAGT TATGTCCCTTACAGG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0081 a0001c0004t0004g0081	1	94	0.0106	964	c.427 others(983): Show c.4270-2401_4270-2400insACAGGAATAGGGATATGTGAGCTATG ATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCC TTACAGGATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGA GCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTC ACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTT ATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGA TATGTGAGCTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTAT TCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTACAG GATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAGCTATG ATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCC CTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTG AACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAG ACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTT CACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGGTAGT TATGTCCCTTACAGGATTTCACATATCCCTATTCTCAG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
ADGRA1_chr10_133082924_133136675	133111178	A A	AACCACCC others(958): Show AACCACCCCTCCTAATCCCACCAGACAACCTGCCCGCCATGAGCACCTCC CTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC AGACACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTA ATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCCCC AGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACC TGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACC ACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCAC CTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCC TAATCCCTCCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCA CCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCA CCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCA CCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGAC ACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCT CCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGAC CACCTGCCCACCACAG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	300	0.0033	965	c.401 others(982): Show c.401+8336_401+8337insACCACCCCTCCTAATCCCACCAGACAAC CTGCCCGCCATGAGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCA CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATGCCTCCAGACC ACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCC ACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGA CACCTCCCTCCTAATCCCCCCAGACAACCTGCCCACCACGGGCACCTCCC TCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATC CCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGA CCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGC CCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACA GGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTC CCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAA TCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCA GACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCT GCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCA CGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACC TCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
CDH4_chr20_61247261_61945617	61331582	C C	CCCCAGGC others(958): Show CCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCTCAGATCTACCTCCTGC CCCGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGA CCCACCTCCTGACCCGACCACCTCCCCCAGGCTCACCTCCTGCCCCGGCC ACCTGCCCTAGAGCCACCTCCTGCCCCGGCCACCTGCCTCAGGCCCACCT CCTGCCCCGGCCACCTGCCCCAGATCTACCTCCTGACCCGACCACCTCCC CCAGGCTCACCTCCTGCCCTGGCCACCTGCCCCAGACCCACCTCCTGCCC CGGCCACCTGCCCCAGAGCCACCTCCTGACCCGACCACCTCCCCCAGGCT CACCTCCTGCCCCGACCACCTGCCCCAGGCCCACCTCCTGCCCCAGACCC ACCTCCTGCCTCAGCCACCTGCCCCAGACTCACCTCCTGCCCCGGCCACC TGCCCCAGAGCCACCTCCTGCCCCGGCCACCTACCCCAGACCCACCTCCT GCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCA GGCCCACCTCCTGCCCCAGACCCACCTCCTGCCTCAGCCACCTGCCCCAG ACTCACCTCCTGCCCCGGCCACCTGCCCCAGAGCCACCTCCTGCCCCGGC CACCTACCCCAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACC TCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGC CCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCC CCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCCGCCAACTGCCCCAGGT CTACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGTCA CCTGTCCCAGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCC TGCCCCGGCCACCTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG01106.hp1 others(12): Show HG00408.hp2 HG00738.hp2 HG01106.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG02040.hp1 HG02040.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG03209.hp2 HG03453.hp1 HG03704.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(5): Show a0001c0001 a0001c0003 a0001c0007 a0001c0013 a0002c0002 a0002c0004 a0002c0005 a0002c0024	a0001c0001t0002 a0001c0001t0008 a0001c0001t0046 others(12): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0046 a0001c0003t0002 a0001c0007t0009 a0001c0013t0006 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0013 a0002c0002t0036 a0002c0004t0002 a0002c0005t0005 a0002c0005t0007 a0002c0024t0015	a0001c0001t0002g0059 a0001c0001t0008g0021 a0001c0001t0046g0062 others(12): Show a0001c0001t0002g0059 a0001c0001t0008g0021 a0001c0001t0046g0062 a0001c0003t0002g0002 a0001c0007t0009g0038 a0001c0013t0006g0035 a0002c0002t0003g0069 a0002c0002t0004g0014 a0002c0002t0011g0082 a0002c0002t0013g0061 a0002c0002t0036g0057 a0002c0004t0002g0079 a0002c0005t0005g0103 a0002c0005t0007g0099 a0002c0024t0015g0051	15	67	0.2239	965	c.169 others(984): Show c.169+76677_169+76678insTCAGATCTACCTCCTGCCCCGGCCAC CTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGACCCACCTCC TGACCCGACCACCTCCCCCAGGCTCACCTCCTGCCCCGGCCACCTGCCCT AGAGCCACCTCCTGCCCCGGCCACCTGCCTCAGGCCCACCTCCTGCCCCG GCCACCTGCCCCAGATCTACCTCCTGACCCGACCACCTCCCCCAGGCTCA CCTCCTGCCCTGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCT GCCCCAGAGCCACCTCCTGACCCGACCACCTCCCCCAGGCTCACCTCCTG CCCCGACCACCTGCCCCAGGCCCACCTCCTGCCCCAGACCCACCTCCTGC CTCAGCCACCTGCCCCAGACTCACCTCCTGCCCCGGCCACCTGCCCCAGA GCCACCTCCTGCCCCGGCCACCTACCCCAGACCCACCTCCTGCCCCGGCC ACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCT CCTGCCCCAGACCCACCTCCTGCCTCAGCCACCTGCCCCAGACTCACCTC CTGCCCCGGCCACCTGCCCCAGAGCCACCTCCTGCCCCGGCCACCTACCC CAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCC GGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCC ACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACC TGCCCCAGGCCCACCTCCTGCCCCCGCCAACTGCCCCAGGTCTACCTCCT GCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGTCACCTGTCCCA GCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGC CACCTGTCCCAGGCCCACCTCCTGCCCCGGCCACCTGCC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar

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