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
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(613): Show GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCAC CAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGC CCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTG CACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAG CACCGCCGTGTGCACCCTCCA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	232	0.0043	620	c.202 others(637): Show c.2029-442_2029-441insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCAT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(613): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCC AGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCG TGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	223	0.0045	620	c.36 others(631): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCT GGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(613): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCA GGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18964.hp1 NA18982.hp2 others(4): Show NA18956.hp1 NA18964.hp1 NA18982.hp2 NA19005.hp1 NA19065.hp2 NA19067.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0001t0001g0001 a0001c0002t0001g0002	7	302	0.0232	620	c.36 others(631): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGC CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAG AGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(613): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAG GAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAG GGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGA AGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAG AAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAA GGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGG AGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAG GGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0049 a0002c0003t0001g0049	1	8	0.1250	620	c.-70 others(629): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAG GGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGG GGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAG TGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGG AGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAG GAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGA GGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGG AAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAA GGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(613): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGGTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGT GGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGG GGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGG GGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGG GTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGG GTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	4	0.2500	620	c.712 others(637): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACC CATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCC TTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCC ACCCCACCCCTCCCCCACCCCACCCCACCCCTCCCCCACCCCACCCCAAC CCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCA CCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(613): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGAGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGT GGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGG GGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGG GGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGG GTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGG GTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	4	0.2500	620	c.712 others(637): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACC CATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCC TTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCC ACTCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAAC CCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCA CCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(613): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGT GGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGG GGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGG GGAAGGATGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGG GTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGG GTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03579.hp1 NA18522.hp1 HG02622.hp1 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0104 a0001c0001t0001g0116 a0001c0001t0001g0077 a0001c0001t0001g0104 a0001c0001t0001g0116	3	6	0.5000	620	c.712 others(637): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCATCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACC CATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCC TTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCC ACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAAC CCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCA CCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(613): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGT GGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGG GGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGG GGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGG GTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGG GTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00558.hp1 others(35): Show HG00140.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG01081.hp2 HG01106.hp2 HG01243.hp2 HG01346.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02080.hp2 HG02257.hp1 HG02258.hp2 HG02486.hp2 HG02523.hp1 HG02895.hp2 HG02965.hp2 HG03471.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03704.hp1 HG03831.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18945.hp2 NA18950.hp1 NA18967.hp2 NA18970.hp1 NA19007.hp2 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0014 a0001c0001 a0005c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0005c0014t0001	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0030 others(35): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0095 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0204 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0225 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0254 a0001c0001t0001g0264 a0001c0001t0001g0276 a0001c0001t0004g0039 a0001c0001t0012g0239 a0005c0014t0001g0188	38	41	0.9268	620	c.712 others(637): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACC CATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCC TTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCC ACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAAC CCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCA CCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(613): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGTGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGT GGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGG GGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGG GGAAGGATGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGG GTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGG GTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	4	0.2500	620	c.712 others(637): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCATCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACC CATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCC TTCCCCCACCCCAACCCTCCCCAGCCCCACACACACCCTTCCCCCACCCC ACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAAC CCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCA CCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(613): Show TCCTCACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAG CTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAC AGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATC CTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTT CCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCT CACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCTG CCACGGCCTACCTTCCTGTCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0077 a0006c0012t0001g0077	1	205	0.0049	620	c.411 others(637): Show c.4112+679_4112+680insGGACAGGAAGGTAGGCCGTGGCAGGTGA GGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGA GCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGT GAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGG GAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGA GGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGC GGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGC TGTGGCACGTGAGGATGGGAAAGTGAGCTGTGGCGGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCN4_chr8_133186039_133236690	133214072	C C	CTATATAT others(613): Show CTATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTTAT ACATACTATATATACACTATATATAGTAGTTATACATACACTATATAGTA GTTATATATACTACATATACACTATATATAGTAGTTATATATACTATATA TACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTAG TTATATATACTATATATACACTATATATAGTTTATATATACTATATATAA ACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGTA TATACTATATATACACTATATATAGTAGTTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATAGTAGTTATATAT ACTACTATATATACTACTATATATAGTATATACTATATATACACTATATA TAGCATATATACTATATATACGCTATATATAGTAGTTATATATACTATAT ATACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGT TATATATACTATATATACTATATATAGTAGTTATATATACTATATATAGT TTATATATATACTATATATAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0247 a0001c0002t0011g0247	1	374	0.0027	620	c.349 others(635): Show c.349+946_349+947insCATACTATATATACACTATATATAGTAGTT ATACATACTATATATACACTATATATAGTAGTTATACATACACTATATAG TAGTTATATATACTACATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTTTATATATACTATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATATAGTAGTTATATATACTACTATATAT ACTACTATATATAGTATATACTATATATACACTATATATAGTAGTTATAT ATACTACTATATATACTACTATATATAGTATATACTATATATACACTATA TATAGCATATATACTATATATACGCTATATATAGTAGTTATATATACTAT ATATACACTATACATACACTATATATAGTTTATATATACTATATATAGTA GTTATATATACTATATATACTATATATAGTAGTTATATATACTATATATA GTTTATATATATACTATATATAGTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214072	C C	CTATATAT others(613): Show CTATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTTAT ACATACTATATATACACTATATATAGTAGTTATACATACACTATATAGTA GTTATATATACTACATATACACTATATATAGTAGTTATATATACTATATA TACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTAG TTATATATACTATATATACACTATATATAGTTTATATATACTATATATAA ACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGTA TATACTATATATACACTATATATAGTAGTTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATAGTAGTTATATAT ACTACTATATATACTACTATATATAGTATATACTATATATACGCTATATA TAGCATATATACTATATATACGCTATATATAGTAGTTATATATACTATAT ATACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGT TATATATACTATATATACTATATATAGTAGTTATATATACTATATATAGT TTATATATATACTATATATAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0231 a0001c0002t0018g0231	1	374	0.0027	620	c.349 others(635): Show c.349+946_349+947insCATACTATATATACACTATATATAGTAGTT ATACATACTATATATACACTATATATAGTAGTTATACATACACTATATAG TAGTTATATATACTACATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTTTATATATACTATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATATAGTAGTTATATATACTACTATATAT ACTACTATATATAGTATATACTATATATACACTATATATAGTAGTTATAT ATACTACTATATATACTACTATATATAGTATATACTATATATACGCTATA TATAGCATATATACTATATATACGCTATATATAGTAGTTATATATACTAT ATATACACTATACATACACTATATATAGTTTATATATACTATATATAGTA GTTATATATACTATATATACTATATATAGTAGTTATATATACTATATATA GTTTATATATATACTATATATAGTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(613): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTC CCCTCCCCCCTCCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTC CCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTC CCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCTCTCCCCCTC CCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0074 a0001c0001t0005g0074	1	12	0.0833	620	c.-45 others(641): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCCCTCCCACTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCC CCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTC CTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(613): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATAT AATTTTATATATTTATATATAAATATAATTTTATGTATAAATATATATAA TTATATATATATTTATATATAATTTTATATATAAATATATATAATTATAT ATATTTATGTATAAATATAATTTTATATATAAATATATATAATTTTATAT ATATAATTTTATATATAAATATATATAATTATATATTTATATATAAATAT ATATAATTTTATATATTATATATAATTTTATATATTATATATAAATATAT ATATAATTTATATATAAATATATAAATTATATATAAATATATATAATTTA TATATAAATATATATAATTTATATATATAAATAGATATAATTTTATATAT TTATTTATATAAATTTTATATATTTATATAAATAAATATATATTTATATA TAAAAATTTATATACAAATATATATAAATATATACAAATATATATATAAA TTTATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0011 a0001c0010t0003g0011	1	42	0.0238	620	c.56- others(637): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAACTTTATATATAAATATATATA ATTTTATATATAAATATATATAATTTTATATATTTATATATAAATATAAT TTTATGTATAAATATATATAATTATATATATATTTATATATAATTTTATA TATAAATATATATAATTATATATATTTATGTATAAATATAATTTTATATA TAAATATATATAATTTTATATATATAATTTTATATATAAATATATATAAT TATATATTTATATATAAATATATATAATTTTATATATTATATATAATTTT ATATATTATATATAAATATATATATAATTTATATATAAATATATAAATTA TATATAAATATATATAATTTATATATAAATATATATAATTTATATATATA AATAGATATAATTTTATATATTTATTTATATAAATTTTATATATTTATAT AAATAAATATATATTTATATATAAAAATTTATATACAAATATATATAAAT ATATACAAATATATATATAAATTTATATAAATATATATAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
COL23A1_chr5_178232618_178595393	178585731	C C	CACAGCCC others(613): Show CACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCT GGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCC CTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAA TGCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATG GCGCTGGGGTAACACTCCACAGCCCTGGTTGGCGCTGGGGTAATGCCCTA CAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGG GGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCT GGATGGCGCTGGGGTAACACTCCACAGCCCTGGTTGGCGCTGGGGTAATG CCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGC GCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACA GCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGG TAATGCCCTACAGCACTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGG ATGGCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0112 a0002c0003t0002g0112	1	64	0.0156	620	c.294 others(637): Show c.294+4172_294+4173insAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGTGCTGTAGGGCATTACCCCAGC GCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACC CCAGCGCCAACCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTG TGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGC CATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCA TTACCCCAGCGCCAACCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAG GGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCC AGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTG GAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCA TCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
CRLF2_chrX_1185490_1217649	1198126	G G	GGGAAGGC others(613): Show GGGAAGGCAGGACACCCTCCCTCCCACCTTGAAGGCAGGACACCCTCCCT CCCACCTTCCAGGAAGGCAGGACACCCTCCCTCCCACCTTCCAGGAAGGC AGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCA CCTTCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGA CACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTC CCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACC CTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAG GAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCC CACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACA CCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTAGA AGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCT CCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGA CACCCTCCCTCCCACCTCCCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG06807.hp2 HG02976.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0040 a0001c0002t0005g0128 a0001c0002t0002g0040 a0001c0002t0005g0128	2	161	0.0124	620	c.646 others(635): Show c.646+435_646+436insTGGGAGGTGGGAGGGAGGGTGTCCTGCCTT CGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGT GTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCTAGGTGG GAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCC TTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGG GTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGT GGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTG CCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGA GGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTT CCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGAAGGTGGGAGGGA GGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTG GAAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGAAGGTGGGAGGGAGGGT GTCCTGCCTTCAAGGTGGGAGGGAGGGTGTCCTGCCTTCC	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CYP4F11_chr19_15907377_15939529	15932745	G G	GAGAGGAA others(613): Show GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGCAGAGAAATGAGTGAGTGGGCAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGTGGG CAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0022 a0001c0004t0004g0022	1	342	0.0029	620	c.198 others(637): Show c.198+1465_198+1466insGCCCGCTCACTCATTCCTCTGCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTGCCCACTCACTCATTCCTCTGCCCACTC ACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTGCCCACTCACTCATTTCTCTGCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTGCCCACTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933272	A A	ATGAGTGA others(613): Show ATGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGGAGAGGAG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0019 a0002c0001t0019	a0002c0001t0019g0142 a0002c0001t0019g0142	1	369	0.0027	620	c.198 others(635): Show c.198+938_198+939insCTCCTCTCCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933365	G G	GAGAGGAA others(613): Show GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGAGGAGAGGAGTG AGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGG CAGAGGAGTGAGTGAGCGGGC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0089 a0002c0001t0089	a0002c0001t0089g0173 a0002c0001t0089g0173	1	329	0.0030	620	c.198 others(635): Show c.198+845_198+846insGCCCGCTCACTCACTCCTCTGCCCGCTCAC TCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCT CCTCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DEAF1_chr11_639233_700222	664411	C C	CCAGCTAT others(613): Show CCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACT CTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCA CACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAG GACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACAC CGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTC AGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCT GAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACA CTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGA CAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCC AGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAG CTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGA GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	221	0.0045	620	c.150 others(641): Show c.1503+10124_1503+10125insAGCCAGGACTCAGAGTGACCGAGT GTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCA GAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG AGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTGGG TGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGT GACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGA GTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAG CCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTG TGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTC CTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGA CGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGT GACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DEAF1_chr11_639233_700222	664411	C C	CCAGCTAT others(613): Show CCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACT CTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCA CACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAG GACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACAC CGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTC AGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCT GAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACA CTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGA CAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCG AGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAG CTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGA GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03139.hp1 HG03209.hp1 HG02818.hp2 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0199	3	223	0.0135	620	c.150 others(640): Show c.1503+9505_1503+10124dupAGCCAGGACTCAGAGTGACCGAGTG TGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAG AGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGA GCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGT GTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCT CCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTG ACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAG TGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGC CAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGT GAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCC TCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGAC GCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTG ACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DIDO1_chr20_62872743_62931505	62875268	A A	ACCCCCAC others(613): Show ACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCC GCACCCCCACCCCCACCCGCACCCCCCACCCCCACCCGCACCCGCACCCC CACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGCA CCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACC CCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCG CACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCA CCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCCACC CGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCACCCC CACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCA CCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTCACC CGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCACCCG CACCCCCACCCCCACCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0149 a0002c0002t0001g0149	1	318	0.0031	620	c.39 others(631): Show c.3964_*3965insGTGGGGGTGGGGGTGGGGGTGCGGGTGAGGGTGG GGGTGAGGGTGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGG GTGAGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGT GGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGC GGGTGCGGGTGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGG GTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGT GGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGG GGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGG GTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGT GGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGC GGGTGGGGGTGGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2474		chr20	TogoVar
DIP2C_chr10_269201_694668	323255	G G	GGCGAGAG others(613): Show GGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG GCGAGAGGCCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGG CGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGG GCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGG GTGCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGG TGCGGGGCTCCAGCGAGAGACCGGTGTTGTTAGAACAGTCAGTCGGGGGT GCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGC GGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCG GGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGG GGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGG GGTGCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGG GTGCGGGGGTGCGGGGCTCCA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0032 a0001c0014t0001g0032	1	68	0.0147	620	c.392 others(639): Show c.3924+3750_3924+3751insTGGAGCCCCGCACCCCCGCACCCCCG ACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGC ACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCCGGAGCCCCGCA CCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCCGGAGCCCCGCAC CCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCACC CCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCCGGAGCCCCGCACCC CCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCCGGAGCCCCGCACCCC CGACTGACTGTTCTAACAACACCGGTCTCTCGCTGGAGCCCCGCACCCCC GACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCACCCCCG CACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGC ACCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCCGGA GCCCCGCACCCCCGACTGACTGTTCTAACAACGCCGGCCTCTCGCCGGAG CCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608556	C C	CCACACAC others(613): Show CCACACACACACACACCCCCCCCCACACACACACCCCCCCCACACACACG CCCCCCCCCACACACACATCCCCCCCCCCACACACACATCCCCCCCCACA CACACACATCCCCCCCCACACACACACATCCCCCCCCACACACACACATC CCCCCCCACACACACACATCCCCCCCCACACACACACATCCCCCCCCACA CACACACATCCCCCCCCACACACACACATCCCCCCCCACACACACACATC CCCCCCCACACACACACATCCCCCCCCCCACACACACATCCCCCCCCCCA CACACATCCCCCCCCCCACACACACATCCCCCCCCACACACACACATCCC CCCCCACACACACACATCCCCCCCCACACACACACATCCCCCCCACACAC ACACATCCCCCCCACACACACACATCCCCCCCACACACACACATCCCCCC CACACACACACATCCCCCCCACACACACACATCCCCCCCCACACACACAC ATCCCCCCCCACACACACACATCCCCCCCCACACACACATCCCCCCCCAC ACACACACATCCCCCCCCCCACACACACATCCCCCCCCCCCACACACACA TCCCCCCCCCCACACACACAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	71	0.0141	620	c.85+ others(637): Show c.85+80937_85+80938insATGTGTGTGTGGGGGGGGGGATGTGTGT GTGGGGGGGGGGGATGTGTGTGTGGGGGGGGGGATGTGTGTGTGTGGGGG GGGATGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTG TGTGGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGA TGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTG GGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGT GTGTGTGTGGGGGGGGATGTGTGTGTGGGGGGGGGGATGTGTGTGGGGGG GGGGATGTGTGTGTGGGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGT GTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGG GGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGT GTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGG GGGGATGTGTGTGTGGGGGGGGGGATGTGTGTGTGGGGGGGGGCGTGTGT GTGGGGGGGGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
EBF2_chr8_25836725_26050413	26005383	T T	TAATTATA others(613): Show TAATTATATTATATATAATATATAATATATATAATATATAATATATAAAA TATATAATATATTATATATTATATATATTATATAAATATATAATATATTA TATATAATTATATAAATATATAATATATTACATATAATTATATATTATAT ATTATATATAATATATAATTATATGTAATATATTATATATATAATTATAT ATATATTATATATATAATATATTTTATATATTAAATTATATATAATATAT ATTATATATATAATTTATATATATAATATATATTATATATTATATAAATA TATATATTTTATATATATAAAATATATATTTTATAATATATAATATAGAA ATATATATTATATAATATATAATTATATATAATTATATATTATATAATAT ATATTTCTATATTATATATTTATAATGTATAATATATAAATATATTATAA ATATATATTATATACTATATAATGCATTATAAATATATTATATTTATATA TTATAAATATATTACATATTTATATATTATATATATAATATATATATTAT ATATTATAAATATATTTTATAAAATATAATATATATATTATTATTATATT TTATAAAATATAATAATAATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0220 a0001c0001t0042g0220	1	192	0.0052	620	c.551 others(639): Show c.551+27701_551+27702insTATTATTATTATATTTTATAAAATAT AATAATAATATATATATTATATTTTATAAAATATATTTATAATATATAAT ATATATATTATATATATAATATATAAATATGTAATATATTTATAATATAT AAATATAATATATTTATAATGCATTATATAGTATATAATATATATTTATA ATATATTTATATATTATACATTATAAATATATAATATAGAAATATATATT ATATAATATATAATTATATATAATTATATATTATATAATATATATTTCTA TATTATATATTATAAAATATATATTTTATATATATAAAATATATATATTT ATATAATATATAATATATATTATATATATAAATTATATATATAATATATA TTATATATAATTTAATATATAAAATATATTATATATATAATATATATATA ATTATATATATAATATATTACATATAATTATATATTATATATAATATATA ATATATAATTATATGTAATATATTATATATTTATATAATTATATATAATA TATTATATATTTATATAATATATATAATATATAATATATTATATATTTTA TATATTATATATTATATATATTATATATTATATATAATATAATT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EPHB2_chr1_22705839_22926500	22754841	G G	GGAGGTGA others(613): Show GGAGGTGAGGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGGGAGGTGA GGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGGGGCAGGGGAGG TGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTGAGATGAGGGGC AGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGGGACAGGGGAGG TGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTGAGATGAGGGGC AGGGGAGATGAGATGAGGGGCAGAGAAGATGAGATGAGGGATGGGGAGGT GAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAG GTGAGATGAGGGGCAGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAAGG GAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCAGGTGAGGTGAG ACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGGCAGGG GAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAGGCAAG GGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGG GAGGTGAGGGGCAGGGGAGGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0212 a0001c0001t0012g0212	1	65	0.0154	620	c.62- others(637): Show c.62-26570_62-26569insGCAGGGGAGGGGAGGTGAGGGGCAGGGG AGGGGAGGTGAGGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGG GGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTG AGATGAGGGGCAGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGG GACAGGGGAGGTGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTG AGATGAGGGGCAGGGGAGATGAGATGAGGGGCAGAGAAGATGAGATGAGG GATGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGA GGTGAGGGGAGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAGGTGAGAT GAGGGGCAAGGGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCA GGTGAGGTGAGACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGT GAGGGGCAGGGGAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGA GGTGAGGCAAGGGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGT GAGGGGCAGGGGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB2_chr1_22705839_22926500	22754841	G G	GGAGGTGA others(613): Show GGAGGTGAGGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGGGAGGTGA GGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGGGGCAGGGGAGG TGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTGAGATGAGGGGC AGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGGGACAGGGGAGG TGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTGAGATGAGGGGC AGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGGGATGGGGAGGT GAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAG GTGAGATGAGGGGCAGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAAGG GAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCAGGTGAGGTGAG ACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGGCAGGG GAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAGGCAAG GGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGG GAGGTGAGGGGCAGGGGAGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(45): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00642.hp2 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01978.hp1 HG02145.hp1 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02647.hp2 HG02735.hp2 HG03017.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG04115.hp1 HG04184.hp1 NA18906.hp2 NA18951.hp1 NA18983.hp1 NA19065.hp1 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0027 a0001c0001t0030 a0001c0001t0043 a0001c0001t0045 a0001c0001t0049 a0001c0001t0051 a0001c0002t0001 a0001c0002t0005 a0001c0002t0011 a0001c0002t0017 a0001c0002t0035 a0001c0005t0001 a0001c0006t0022	a0001c0001t0001g0054 a0001c0001t0001g0099 a0001c0001t0001g0103 others(45): Show a0001c0001t0001g0054 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0163 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0002g0033 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0090 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0136 a0001c0001t0002g0152 a0001c0001t0002g0169 a0001c0001t0003g0094 a0001c0001t0003g0194 a0001c0001t0004g0108 a0001c0001t0004g0168 a0001c0001t0005g0035 a0001c0001t0007g0055 a0001c0001t0012g0037 a0001c0001t0015g0084 a0001c0001t0015g0112 a0001c0001t0016g0012 a0001c0001t0016g0069 a0001c0001t0027g0229 a0001c0001t0030g0111 a0001c0001t0043g0115 a0001c0001t0045g0187 a0001c0001t0049g0228 a0001c0001t0051g0135 a0001c0002t0001g0014 a0001c0002t0001g0073 a0001c0002t0001g0093 a0001c0002t0001g0097 a0001c0002t0001g0125 a0001c0002t0001g0182 a0001c0002t0005g0036 a0001c0002t0011g0095 a0001c0002t0011g0138 a0001c0002t0017g0096 a0001c0002t0035g0056 a0001c0005t0001g0091 a0001c0006t0022g0105	48	112	0.4286	620	c.62- others(637): Show c.62-26570_62-26569insGCAGGGGAGGGGAGGTGAGGGGCAGGGG AGGGGAGGTGAGGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGG GGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTG AGATGAGGGGCAGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGG GACAGGGGAGGTGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTG AGATGAGGGGCAGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGG GATGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGA GGTGAGGGGAGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAGGTGAGAT GAGGGGCAAGGGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCA GGTGAGGTGAGACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGT GAGGGGCAGGGGAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGA GGTGAGGCAAGGGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGT GAGGGGCAGGGGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB2_chr1_22705839_22926500	22754841	G G	GGAGGTGA others(613): Show GGAGGTGAGGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGGGAGGTGA GGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGGGGCAGGGGAGG TGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTGAGATGAGGGGC AGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGGGACAGGGGAGG TGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTGAGATGAGGGGC AGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGGGATGGGGAGGT GAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAG GTGAGATGAGGGGCAGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAAGG GAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCAGGTGAGGTGAG ACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGGCAGGG GAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAGGCAAG GGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGGTGCAGGG GAGGTGAGGGGCAGGGGAGGT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0065 a0001c0001t0008g0066 a0001c0001t0008g0065 a0001c0001t0008g0066	2	66	0.0303	620	c.62- others(637): Show c.62-26570_62-26569insGCAGGGGAGGGGAGGTGAGGGGCAGGGG AGGGGAGGTGAGGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGG GGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTG AGATGAGGGGCAGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGG GACAGGGGAGGTGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTG AGATGAGGGGCAGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGG GATGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGA GGTGAGGGGAGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAGGTGAGAT GAGGGGCAAGGGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCA GGTGAGGTGAGACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGT GAGGGGCAGGGGAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGA GGTGAGGCAAGGGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGT GAGGTGCAGGGGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
EVC2_chr4_5557439_5713559	5706337	G G	GATAGATA others(613): Show GATAGATAGATAGATAGATAGATAGATACATAGATACATACATAGATAGA TAGCTAGATAGATACATAGATACATAGATAGATAGATAGATAGATAGATA GATAGATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGA TAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATA GATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGA TACATACATAGATAGATACATAGATAGATAGATACATAGATAGATAGATA GATAGATAGATAGATACATAGATAGATACATACATACATAGATAGATACA TAGACAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATA GATAGATACATAGATAGATAGATACATACACAGATAGATACATAGATACA TAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATA GATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATACA TACATAGATAGATAGATAGATACATAGATAGATAGATACATACATACATA CATACATACATAGATAGATAC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18988.hp1 NA18990.hp1 NA18952.hp2 NA18988.hp1 NA18990.hp1	a0003 a0006 a0003 a0006	a0003c0006 a0006c0008 a0006c0009 a0003c0006 a0006c0008 a0006c0009	a0003c0006t0002 a0006c0008t0001 a0006c0009t0002 a0003c0006t0002 a0006c0008t0001 a0006c0009t0002	a0003c0006t0002g0269 a0006c0008t0001g0287 a0006c0009t0002g0255 a0003c0006t0002g0269 a0006c0008t0001g0287 a0006c0009t0002g0255	3	251	0.0120	620	c.228 others(637): Show c.228+1948_228+1949insGTATCTATCTATGTATGTATGTATGTAT GTATGTATCTATCTATCTATGTATCTATCTATCTATCTATGTATGTATGT ATCTATCTATCTATCTATGTATCTATCTATGTATCTATCTATCTATCTAT CTATCTATCTATGTATCTATCTATCTATCTATGTATCTATCTATGTATCT ATGTATCTATCTGTGTATGTATCTATCTATCTATGTATCTATCTATCTAT CTATGTATCTATCTATCTATCTATGTATCTATCTATCTGTCTATGTATCT ATCTATGTATGTATGTATCTATCTATGTATCTATCTATCTATCTATCTAT CTATCTATGTATCTATCTATCTATGTATCTATCTATGTATGTATCTATCT ATCTATGTATCTATCTATGTATCTATCTATCTATCTATCTATCTATCTAT GTATCTATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTATGT ATCTATCTATGTATCTATCTATCTATCTATCTATGTATCTATCTATCTAT CTATCTATCTATCTATCTATGTATCTATGTATCTATCTAGCTATCTATCT ATGTATGTATCTATGTATCTATCTATCTATCTATCTATCTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5706337	G G	GATAGATA others(613): Show GATAGATAGATAGATAGATAGATAGATACATAGATACATACATAGATAGA TAGCTAGATAGATACATAGATACATAGATAGATAGATAGATAGATAGATA GATAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGATACA TAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATA GATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGA TACATACATAGATAGATACATAGATAGATAGATACATAGATAGATAGATA GATAGATAGATAGATACATAGATAGATACATACATACATAGATAGATACA TAGACAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATA GATAGATACATAGATAGATAGATACATACACAGATAGATACATAGATACA TAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATA GATAGATACATACATAGATAGATACATAGATAGATAGATAGATACATACA TACATAGATAGATAGATAGATACATAGATAGATAGATACATACATACATA CATACATACATAGATAGATAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA19010.hp2 NA18950.hp2 NA19010.hp2	a0003 a0006 a0003 a0006	a0003c0019 a0006c0008 a0003c0019 a0006c0008	a0003c0019t0001 a0006c0008t0001 a0003c0019t0001 a0006c0008t0001	a0003c0019t0001g0279 a0006c0008t0001g0280 a0003c0019t0001g0279 a0006c0008t0001g0280	2	250	0.0080	620	c.228 others(637): Show c.228+1948_228+1949insGTATCTATCTATGTATGTATGTATGTAT GTATGTATCTATCTATCTATGTATCTATCTATCTATCTATGTATGTATGT ATCTATCTATCTATCTATGTATCTATCTATGTATGTATCTATCTATCTAT CTATCTATCTATGTATCTATCTATCTATCTATGTATCTATCTATGTATCT ATGTATCTATCTGTGTATGTATCTATCTATCTATGTATCTATCTATCTAT CTATGTATCTATCTATCTATCTATGTATCTATCTATCTGTCTATGTATCT ATCTATGTATGTATGTATCTATCTATGTATCTATCTATCTATCTATCTAT CTATCTATGTATCTATCTATCTATGTATCTATCTATGTATGTATCTATCT ATCTATGTATCTATCTATGTATCTATCTATCTATCTATCTATCTATGTAT CTATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTATGTATCT ATCTATGTATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTAT CTATCTATCTATCTATCTATGTATCTATGTATCTATCTAGCTATCTATCT ATGTATGTATCTATGTATCTATCTATCTATCTATCTATCTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5706337	G G	GATAGATA others(613): Show GATAGATAGATAGATAGATAGATAGATACATAGATACATACATAGATAGA TAGCTAGATAGATACATAGATACATAGATAGATAGATAGATAGATAGATA GATAGATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGA TAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATA GATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGA TACATACATAGATAGATACATAGATAGATAGATACATAGATAGATAGATA GATAGATAGATAGATACATAGATAGATACATACATACATAGATAGATACA TAGACAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATA GATAGATACATAGATAGATAGATACATACACAGATAGATACATAGATACA TAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATA GATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATACA TACATAGATAGATAGATAGATACATAGATAGATAGATACATACATACATA CATACATACATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18990.hp2 NA18952.hp2 NA18990.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0003c0015 a0002c0005 a0003c0015	a0002c0005t0001 a0003c0015t0002 a0002c0005t0001 a0003c0015t0002	a0002c0005t0001g0019 a0003c0015t0002g0018 a0002c0005t0001g0019 a0003c0015t0002g0018	2	312	0.0064	620	c.-50 others(631): Show c.-5044_-5043insATAGATAGATAGATAGATAGATAGATACATAGAT ACATACATAGATAGATAGCTAGATAGATACATAGATACATAGATAGATAG ATAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACAT AGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATAG ATAGATACATAGATAGATAGATAGATAGATAGATAGATACATAGATAGAT ACATAGATAGATAGATACATACATAGATAGATACATAGATAGATAGATAC ATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATACATACAT ACATAGATAGATACATAGACAGATAGATAGATACATAGATAGATAGATAG ATACATAGATAGATAGATAGATACATAGATAGATAGATACATACACAGAT AGATACATAGATACATAGATAGATACATAGATAGATAGATAGATACATAG ATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGAT AGATAGATACATACATACATAGATAGATAGATAGATACATAGATAGATAG ATACATACATACATACATACATACATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4863		chr4	TogoVar
EVC_chr4_5706201_5819305	5706337	G G	GATAGATA others(613): Show GATAGATAGATAGATAGATAGATAGATACATAGATACATACATAGATAGA TAGCTAGATAGATACATAGATACATAGATAGATAGATAGATAGATAGATA GATAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGATACA TAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATA GATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGA TACATACATAGATAGATACATAGATAGATAGATACATAGATAGATAGATA GATAGATAGATAGATACATAGATAGATACATACATACATAGATAGATACA TAGACAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATA GATAGATACATAGATAGATAGATACATACACAGATAGATACATAGATACA TAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATA GATAGATACATACATAGATAGATACATAGATAGATAGATAGATACATACA TACATAGATAGATAGATAGATACATAGATAGATAGATACATACATACATA CATACATACATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0003 a0008c0013t0003	a0008c0013t0003g0050 a0008c0013t0003g0050	1	311	0.0032	620	c.-50 others(631): Show c.-5044_-5043insATAGATAGATAGATAGATAGATAGATACATAGAT ACATACATAGATAGATAGCTAGATAGATACATAGATACATAGATAGATAG ATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGAT ACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAG ATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGAT ACATAGATAGATAGATACATACATAGATAGATACATAGATAGATAGATAC ATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATACATACAT ACATAGATAGATACATAGACAGATAGATAGATACATAGATAGATAGATAG ATACATAGATAGATAGATAGATACATAGATAGATAGATACATACACAGAT AGATACATAGATACATAGATAGATACATAGATAGATAGATAGATACATAG ATAGATAGATAGATAGATAGATACATACATAGATAGATACATAGATAGAT AGATAGATACATACATACATAGATAGATAGATAGATACATAGATAGATAG ATACATACATACATACATACATACATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4863		chr4	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(613): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02647.hp1 HG02145.hp1 HG02647.hp1	a0007 a0017 a0007 a0017	a0007c0013 a0017c0037 a0007c0013 a0017c0037	a0007c0013t0002 a0017c0037t0004 a0007c0013t0002 a0017c0037t0004	a0007c0013t0002g0046 a0017c0037t0004g0051 a0007c0013t0002g0046 a0017c0037t0004g0051	2	182	0.0110	620	c.953 others(635): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTTTTTTTATTTATT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTG GACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATA AACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGG GTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTA GATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(613): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA ATAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0016 a0016	a0016c0035 a0016c0035	a0016c0035t0004 a0016c0035t0004	a0016c0035t0004g0073 a0016c0035t0004g0073	1	181	0.0055	620	c.953 others(635): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTTTATTTATTTATT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTG GACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATA AACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGG GTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTA GATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(613): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA ATAAATAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0002 a0007c0013t0002	a0007c0013t0002g0279 a0007c0013t0002g0279	1	181	0.0055	620	c.953 others(635): Show c.953-287_953-286insTTTTTTTTTTTTTTTATTTATTTATTTATT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTG GACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATA AACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGG GTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTA GATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(613): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA ATAAATAATAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0002 a0007c0013t0002	a0007c0013t0002g0276 a0007c0013t0002g0276	1	181	0.0055	620	c.953 others(635): Show c.953-287_953-286insTTTTTTTTTTTTATTATTTATTTATTTATT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTG GACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATA AACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGG GTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTA GATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
FHIT_chr3_59742277_61256452	60861215	T T	TATATGAT others(613): Show TATATGATATATATGATATATATGATATATATGATATATATGATATCATA TATATGATATATATGATATATATCATATATATGATATCATATATGATATA TATGATATATCATATCATATCATATATGATATATATGATATATATGATAT ATCATATATATCATATATGATATATATGATATATATGATATATCATATCA TATATGATATATATGATATATATGATATATCATATCTATCATATATGATA TATATGATATATATGATATATCATATCATATCATATATGATATATATGAT ATGATATGATATATCATATCATATCATATATGATATATATGATATGATAT GATATATCATATCATATCATATATGATATATATGATATATATGATATATC ATATCATATCATATATGATATATATGATATATATGATATATCATATCATA TCATATATGATATATATGATATATATGATATATCATATCATATAATATAT GATATATATGATATATATGATATATCATATCATATAATATATGATATATA TGATATATATGATATATCATATCATATATGATATATATGATATATATGAT ATATCATATCATATATGATAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0019 a0001c0001t0001g0020	2	36	0.0556	620	c.-11 others(641): Show c.-110-39205_-110-39204insGTATCATATATGATATGATATATC ATATATATCATATATATCATATATGATATGATATATCATATATATCATAT ATATCATATATTATATGATATGATATATCATATATATCATATATATCATA TATTATATGATATGATATATCATATATATCATATATATCATATATGATAT GATATGATATATCATATATATCATATATATCATATATGATATGATATGAT ATATCATATATATCATATATATCATATATGATATGATATGATATATCATA TCATATCATATATATCATATATGATATGATATGATATATCATATCATATC ATATATATCATATATGATATGATATGATATATCATATATATCATATATAT CATATATGATAGATATGATATATCATATATATCATATATATCATATATGA TATGATATATCATATATATCATATATATCATATATGATATATATGATATA TCATATATATCATATATATCATATATGATATGATATGATATATCATATAT ATCATATATGATATCATATATATGATATATATCATATATATCATATATAT GATATCATATATATCATATATATCATATATATCATATATATCATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FLT4_chr5_180596506_180654600	180635661	A A	AAGTATGG others(613): Show AAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGAT GGAAGTATGGGTGGATGGGTGGGTGGACGGATGGATGGATGGAAGTATGG GTGGATGGGTGGGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGAT GGGTGGGTGGGTGGGTGGATGGATGCATGGATGCATGGAAGTATGGGTGG ATGGGTGGGTGAGTGGGTGGATGGAAGTATGGGTGGATGGGTGGGTGGAT GGGTGGATGGATGCATGTATGGAAGTATGGATGGATGAGTGGATGGGTGG GTGGGTGGATGCATAGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGT GGGTGGATGGATGCATGGATGGAAGTAAGGGTGGATGGGTGGATGGGTGG GTGAGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGT GGGTGGGTGGATGGATGCATGGATGGAAGTAAGGGTGGATGGGTGGATGG GTGGGTGAGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATGGGT GGATGGGTGGGTGGGTAGGTGGATGGATGCATGGATTGAAGTATGGGTGG ATGGGTGGGTGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0031 a0002c0002t0004g0031	1	283	0.0035	620	c.59- others(635): Show c.59-3884_59-3883insCCCACCCACCCACCCACCCATCCACCCATA CTTCAATCCATGCATCCATCCACCTACCCACCCACCCATCCACCCATCCA CCCATACTTCCATCCATCCATGCATCCACCCACTCACCCACCCATCCACC CATCCACCCTTACTTCCATCCATGCATCCATCCACCCACCCACCCACCCA TCCACCCATACTTCCATCCATCCATGCATCCACCCACTCACCCACCCATC CACCCATCCACCCTTACTTCCATCCATGCATCCATCCACCCACCCACCCA CCCATCCACCCATACTTCCATCCATCTATGCATCCACCCACCCACCCATC CACTCATCCATCCATACTTCCATACATGCATCCATCCACCCATCCACCCA CCCATCCACCCATACTTCCATCCACCCACTCACCCACCCATCCACCCATA CTTCCATGCATCCATGCATCCATCCACCCACCCACCCACCCATCCACCCA TACTTCCATCCATCCATGCATCCACCCACCCACCCATCCACCCATACTTC CATCCATCCATCCGTCCACCCACCCATCCACCCATACTTCCATCCATCCA TGCATCCATCCACCCACCCACCCACCCATCCACCCATACT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26716752	A A	AACAGCCC others(613): Show AACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAATGACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCCAACC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0038	1	174	0.0057	620	c.240 others(639): Show c.240+55649_240+55650insGGTTGGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCCCAGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTCATTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCC CCAGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTC AGAGCTGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(613): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	130	0.0077	620	c.240 others(639): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTG GAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTC AGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(613): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCA AATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	130	0.0077	620	c.240 others(639): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTC AGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(613): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCA AATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	130	0.0077	620	c.240 others(639): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCC CCAGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTTGGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTC AGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(613): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCA AATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03209.hp1 HG03130.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0009 a0001c0001t0006g0039 a0001c0001t0005g0009 a0001c0001t0006g0039	2	131	0.0153	620	c.240 others(639): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTC AGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GLB1L3_chr11_134271379_134324564	134308353	C C	CCATCATC others(613): Show CCATCATCACCATCACCTCCACCACCACCACCACTATCACCACCATCACC ATCAACACCATCACCACCATCATCACCACCACCACCACCACCAACACCAC CACCACCACCATCACCACCATCACCACCATCACCACCATCACCATCACCA CCACCACCATCATCACCATCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCAAATACCACCACCACCACCATGTCCACCACCACCACCA CCACCATCACCATCACCACCACCACCACCACCATCACCATCACCATCATC ACCATCACCTCCACCACCACCACCACTATCACCACCATCACCATCAACAC CATCACCACCATCATCACCACCACCACCACCACCAACACCACCACCACCA CCATCACCACCATCACCACCACCACCACCATCACCACCACCACCACCAAA TACCACCACCACCACCATGTCCACCACCACCACCACCACCATCACCATCA CCACCACCACCACCACCATCACCATCACCATCATCACCATCACCTCCACC ACCACCACCACTATCACCACCATCACCATCAACACCATCACCACCATCAT CACCACCACCACCACCACCAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0276 a0001c0002t0002g0276	1	414	0.0024	620	c.961 others(637): Show c.961+1147_961+1148insTCATCACCATCACCTCCACCACCACCAC CACTATCACCACCATCACCATCAACACCATCACCACCATCATCACCACCA CCACCACCACCAACACCACCACCACCACCATCACCACCATCACCACCATC ACCACCATCACCATCACCACCACCACCATCATCACCATCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCAAATACCACCACCACCACC ATGTCCACCACCACCACCACCACCATCACCATCACCACCACCACCACCAC CATCACCATCACCATCATCACCATCACCTCCACCACCACCACCACTATCA CCACCATCACCATCAACACCATCACCACCATCATCACCACCACCACCACC ACCAACACCACCACCACCACCATCACCACCATCACCACCACCACCACCAT CACCACCACCACCACCAAATACCACCACCACCACCATGTCCACCACCACC ACCACCACCATCACCATCACCACCACCACCACCACCATCACCATCACCAT CATCACCATCACCTCCACCACCACCACCACTATCACCACCATCACCATCA ACACCATCACCACCATCATCACCACCACCACCACCACCAACA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GMDS_chr6_1618806_2250605	1897923	A A	ACCCTTGC others(613): Show ACCCTTGCCATCCTGGACACCTACCCTGGCCTCCGTTGCCATCCTGGACA CCTATCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCGTTG CCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTATCC TGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCGTTGCCATCCT GGACACCTACCCTGGCCTCCGTTGCCATCCTGGACACCTACCCTGGCCTC CCTTGCCATCCTGGACACCTATCCTGGCCTCCGTTGCCATCCTGGACACC TACCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCGTTGCC ATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTG GCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGG GCACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCACCC TTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTA CCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCAT CCTGGACACCTACCCTGGCCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	139	0.0072	620	c.771 others(639): Show c.771+32179_771+32180insAGGCCAGGGTAGGTGTCCAGGATGGC AAGGGTGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGT GTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGTG GCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGCCCAGG ATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGA TAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAA CGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGT CCAGGATGGCAACGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGC CAGGGTAGGTGTCCAGGATGGCAACGGAGGCCAGGGTAGGTGTCCAGGAT GGCAACGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATA GGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAACG GAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCC AGGATGGCAACGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
HBQ1_chr16_175459_186179	186119	G G	GGAGGAAC others(613): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGA GGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	620	c.50 others(631): Show c.5011_*5012insGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGGGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4941		chr16	TogoVar
IFNAR1_chr21_33319970_33364864	33322284	T T	TATATGGA others(613): Show TATATGGAATATATATATGCAATATATATATATGGAATATATATATGCAG TATATATATATGAATATATATATGGAATATATATATGGAATATATATATG GAATATATATATGGAATATATATATGGAATATATATATGGAATATATATA TATGTGGAATATATATATGGAATATATATATATGTGGAATATATATATGG AATATATATATATGTGGAATATATATATGGAATATATATATATGTGGAAT ATATATATGGAATATATATATGGAATATATACATGGAATATATGTATATG GAATATATACATGGAATATGTGTATATGGAATATATACATGGAATATATA TATGGAATATATACATGGAATATATATATGGAATATATACATGGAATATA TATATATGGAATATATACATGGAATATATATATATGGAATATATACATGG AATATATATATATGGAATATATACATGGAATATATATATATAGAATATAT ACATGGAATATATATATGGAATATATACATGGAATATATATATATGGAAT ATATACATGGAATATATACATGGAATATATACATGGAACATATACATGGA ATATATACATGGAACATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0217 a0002c0002t0002g0217	1	315	0.0032	620	c.-27 others(631): Show c.-2772_-2771insATATGGAATATATATATGCAATATATATATATGG AATATATATATGCAGTATATATATATGAATATATATATGGAATATATATA TGGAATATATATATGGAATATATATATGGAATATATATATGGAATATATA TATGGAATATATATATATGTGGAATATATATATGGAATATATATATATGT GGAATATATATATGGAATATATATATATGTGGAATATATATATGGAATAT ATATATATGTGGAATATATATATGGAATATATATATGGAATATATACATG GAATATATGTATATGGAATATATACATGGAATATGTGTATATGGAATATA TACATGGAATATATATATGGAATATATACATGGAATATATATATGGAATA TATACATGGAATATATATATATGGAATATATACATGGAATATATATATAT GGAATATATACATGGAATATATATATATGGAATATATACATGGAATATAT ATATATAGAATATATACATGGAATATATATATGGAATATATACATGGAAT ATATATATATGGAATATATACATGGAATATATACATGGAATATATACATG GAACATATACATGGAATATATACATGGAACATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2685		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(613): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGC AGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGG AGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAG GGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGG CAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAG GGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0002 a0001c0001t0011 a0002c0002t0002	a0001c0001t0011g0141 a0002c0002t0002g0098 a0001c0001t0011g0141 a0002c0002t0002g0098	2	14	0.1429	620	c.978 others(637): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCA GGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGA GAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG ATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGC AGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAAACG GGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGG AGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAA ACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCA GGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(613): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGC AGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGG AGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGG CAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAG GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0135 a0002c0002t0006g0135	1	13	0.0769	620	c.978 others(637): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCA GGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGA GAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG ATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGC AGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGG ACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5D_chr2_233055342_233212903	233176499	G G	GGATGGAG others(613): Show GGATGGAGGGACGGATGGATGAATGGGTAGGTGGGTGGGCGGATGGGTGA ATGGGTAGGTGGGTGGGCGGATGGATGGATGGATGAGTAGATGGATGGAT GAACAGGAGAATGGGTGGATGGATGGATGGATGGATGAATGGATGAACAG ATGGTTGGATGGATGAATAGGCGAATGGATAGGTGGGTGGGTGGATGGAT GGATAGATGGATGGATGTGTGGGTGGGTGAATGGATGGATGGATGGGTGG ATAGGTGGATGAATGGATGAATAGATGGAAGGATGGATAGATGGATGGAT AGGTGAATGGGTAGGTGGGTGGGCAGATGGATGGATGGATGGATGGACGG ATGGATGGATGGATGAGTAGATGAATGGATGAATAGGAGAATGGGTAGAT GGGTGGGTGGATGGATGGATGTGTGGGTGGGTGGAGGGAAGGATGGATGG ATGGATAAATGGATGGATAGGTGGATGGGTGGATGGAGGGATGGATGGAT GGATAGGTAAATGGGTAGGTGGGTGGGCGGAGGGATGGATGGATGGATGG ATGGATAGGTGAAGGTTAGATGGGTGGGCGGAGGGATGGATGGATGGATG GATAGGTGGATGAATGGATGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp2 HG00642.hp2 others(30): Show HG00099.hp1 HG00609.hp2 HG00642.hp2 HG01081.hp1 HG01106.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01517.hp2 HG01891.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp2 NA18522.hp1 NA18981.hp1 NA19030.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(5): Show a0001c0001 a0001c0004 a0001c0006 a0001c0013 a0001c0024 a0002c0002 a0002c0007 a0002c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0004t0001 a0001c0006t0001 a0001c0013t0013 a0001c0024t0017 a0002c0002t0003 a0002c0002t0004 a0002c0002t0020 a0002c0007t0004 a0002c0022t0003	a0001c0001t0001g0009 a0001c0001t0002g0158 a0001c0001t0002g0238 others(30): Show a0001c0001t0001g0009 a0001c0001t0002g0158 a0001c0001t0002g0238 a0001c0001t0005g0024 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0179 a0001c0001t0005g0184 a0001c0001t0005g0191 a0001c0001t0006g0167 a0001c0001t0006g0196 a0001c0001t0006g0246 a0001c0001t0006g0247 a0001c0001t0007g0169 a0001c0001t0015g0223 a0001c0004t0001g0008 a0001c0004t0001g0015 a0001c0004t0001g0131 a0001c0004t0001g0139 a0001c0006t0001g0130 a0001c0013t0013g0258 a0001c0013t0013g0306 a0001c0024t0017g0244 a0002c0002t0003g0157 a0002c0002t0003g0221 a0002c0002t0003g0269 a0002c0002t0003g0276 a0002c0002t0004g0031 a0002c0002t0004g0084 a0002c0002t0004g0132 a0002c0002t0020g0275 a0002c0007t0004g0147 a0002c0022t0003g0283	33	106	0.3113	620	c.199 others(637): Show c.1990-766_1990-765insGATGGAGGGACGGATGGATGAATGGGTA GGTGGGTGGGCGGATGGGTGAATGGGTAGGTGGGTGGGCGGATGGATGGA TGGATGAGTAGATGGATGGATGAACAGGAGAATGGGTGGATGGATGGATG GATGGATGAATGGATGAACAGATGGTTGGATGGATGAATAGGCGAATGGA TAGGTGGGTGGGTGGATGGATGGATAGATGGATGGATGTGTGGGTGGGTG AATGGATGGATGGATGGGTGGATAGGTGGATGAATGGATGAATAGATGGA AGGATGGATAGATGGATGGATAGGTGAATGGGTAGGTGGGTGGGCAGATG GATGGATGGATGGATGGACGGATGGATGGATGGATGAGTAGATGAATGGA TGAATAGGAGAATGGGTAGATGGGTGGGTGGATGGATGGATGTGTGGGTG GGTGGAGGGAAGGATGGATGGATGGATAAATGGATGGATAGGTGGATGGG TGGATGGAGGGATGGATGGATGGATAGGTAAATGGGTAGGTGGGTGGGCG GAGGGATGGATGGATGGATGGATGGATAGGTGAAGGTTAGATGGGTGGGC GGAGGGATGGATGGATGGATGGATAGGTGGATGAATGGATGA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	17/26			chr2	TogoVar

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