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
ARID1B_chr6_156772378_157215779	157147227	A A	ACCCCCGC others(608): Show ACCCCCGCCTCCGACCCTGCCCTCCATCCCTCACCCCCCGCCTCCGGCCC TGCCCGCCAGCCCTCACCTCCGCCTCCGACCCTGCCCGCCTTCCCTCACC CCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCC CTCCATCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCAG CCTCCGGCCCTGCCCTCCGTCCCCCACCCCAGCCTCCGACCCTGCCCGCC AGTCCTCACCCCCGCCTCCGACCCTGCCCGCCTTCCCTCACCCCCGCCTC CGGCCCTGCCCTCCGGCCCTCACCCCAGCCTCCGACCCTGCCCTCCGTCC CCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCCCCGCCTCCGGC CCTGTTCTCCGTCCCCCACCCCAGCCTCCGGCCCTGCCCTCCGTCCCCCA CCCCCGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTG CCCTCCGTCCCCCACCCCCGCCTCCGACCCTGCCCTCCGTCCCCCACCCC CGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCG CCAGCCCTCACCCCCG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	2	0.5000	615	c.276 others(634): Show c.2762-1395_2762-1394insCCCGCCTCCGACCCTGCCCTCCATCC CTCACCCCCCGCCTCCGGCCCTGCCCGCCAGCCCTCACCTCCGCCTCCGA CCCTGCCCGCCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCC ACCCCCGCCTCCGGCCCTGCCCTCCATCCCTCACCCCCGCCTCCGGCCCT GCCCTCCGGCCCTCACCCCAGCCTCCGGCCCTGCCCTCCGTCCCCCACCC CAGCCTCCGACCCTGCCCGCCAGTCCTCACCCCCGCCTCCGACCCTGCCC GCCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCAGC CTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCG TCCCTCACCCCCGCCTCCGGCCCTGTTCTCCGTCCCCCACCCCAGCCTCC GGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGACCCTGCCCTCCGTCCC CCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGACC CTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCAC CCCCGCCTCCGGCCCTGCCCGCCAGCCCTCACCCCCGCC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ATP9B_chr18_79064394_79383283	79326330	G G	GTACCCTC others(608): Show GTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCC CTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCA CATGGTGTTAGGGTGTCATCTCTGTACCCTTCCTCCCCTCACATGGTGTT AGTGTGTCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCA TCTCTATACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTAC CCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCC CCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATG GTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGG TGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTC TGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTC CCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTTCCTCCCCTC ACATGGTGTTAGTGTGTCATCTCTGCACACTCCCTCCCCTCACATGGTGT TAGGGTGTCATCTCTA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0004 a0001c0024t0004	a0001c0024t0004g0058 a0001c0024t0004g0058	1	291	0.0034	615	c.177 others(634): Show c.1774-2805_1774-2804insCCCTCCCCTCACATGGTGTTAGGGTG TCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTG TACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTTCC TCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCCCTCCCCTCAC ATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGGTGTTA GGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCAT CTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACC CTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCC CTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGG TGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGT GTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCT GTACCCTTCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCC CTCCCCTCACATGGTGTTAGGGTGTCATCTCTATACCCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(608): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAG AGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGG CCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGAC GCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCAGCC TCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGC AGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0018 a0001c0004t0001g0018	1	223	0.0045	615	c.36 others(626): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCT CCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCC GCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCC CGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCC CCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGC GTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
B3GAT1_chr11_134373508_134417242	134408157	C C	CGGGTGAG others(608): Show CGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGG AGGGAGGTGGGACAGCCTGCACCGACTCCAATGGGGTGAGGAGGGAGGTG GGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCT GCACCTATTCTAGTGGGGTGAAGAGGGAGGTGGGACAGCCTGCACCGATT CCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGG TGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGG AGGTGGGACAGCCTCCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGAC AGCCTGCACCGACTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCAC CGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAG TGGGGTGAGGAGGGAGGTGGGATAGCCTGCACCTATTCCAGTGGGGTGAG GAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGT GGGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCC TGCACCGACTCCAATG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG00639.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0098 a0001c0001t0003g0097 a0001c0001t0001g0098 a0001c0001t0003g0097	2	68	0.0294	615	c.-28 others(634): Show c.-282+3649_-282+3650insCATTGGAGTCGGTGCAGGCTGTCCCA CCTCCCTCCTCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCC TCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCAC TGGAATAGGTGCAGGCTATCCCACCTCCCTCCTCACCCCACTGGAATCGG TGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGGTGCAGGCTG TCCCACCTCCCTCCTCACCCCACTGGAGTCGGTGCAGGCTGTCCCACCTC CCTCCTCACCCCACTGGAATCGGTGGAGGCTGTCCCACCTCCCTCCTCAC CCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGA ATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGGTGCA GGCTGTCCCACCTCCCTCTTCACCCCACTAGAATAGGTGCAGGCTGTCCC ACCTCCCTCCTCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTC CTCACCCCATTGGAGTCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCA CTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCC	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134408804	G G	GATTCCAG others(608): Show GATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGT GGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGG AGGGAGGTGGGACAGCCTGCACCTATTCCAGTGGGGTGAGGAGGGAGGTG GGACAGCCTGCACCGACTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCT GCACCGACTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGACT CCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGACTCCAGTGGGG TGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGG AGGTGGGACAGCCTGCACCGACTCCAGTGGGGTGAGGAGGGAGGTGGGAT AGCCTCCACCTATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCAC CGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGACTCCAG TGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCTATTCCAGTGGGGTGAG GAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGC GGGATAGCCTCCACCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02897.hp2 HG03130.hp1 others(2): Show HG02109.hp1 HG02897.hp2 HG03130.hp1 HG03139.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0235 a0001c0001t0004g0236 others(1): Show a0001c0001t0004g0006 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237	5	348	0.0144	615	c.-28 others(634): Show c.-282+3002_-282+3003insAGGTGGAGGCTATCCCGCCTCCCTCC TCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCAC TGGAATAGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGG TGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGGTGCAGGCTG TCCCACCTCCCTCCTCACCCCACTGGAATAGGTGGAGGCTATCCCACCTC CCTCCTCACCCCACTGGAGTCGGTGCAGGCTGTCCCACCTCCCTCCTCAC CCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGA GTCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGGTGCA GGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGGTGCAGGCTGTCCC ACCTCCCTCCTCACCCCACTGGAGTCGGTGCAGGCTGTCCCACCTCCCTC CTCACCCCACTGGAATAGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCA CTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCG GTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAAT	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
BRF1_chr14_105204286_105306001	105231881	T T	TGGGGGCG others(608): Show TGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAA CCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCAGTAGTCGCCC AGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAA CAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGC CCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGC AACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTATCCGCGTAGTC GCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGA GCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTATCCGCGTAG TCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAG GAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTATCCGCGT AGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCACCCTC AGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTAGTCCG CGTAGTCGCCCAGCTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	70	0.0143	615	c.695 others(632): Show c.695-2969_695-2968insCAGCTGGGCGACTACGCGGACTAGTGGT GTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACG GGGCTGCCAGGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGATAGTG GTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCA CGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGATAG TGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGC CACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGAT AGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGT GCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGG ACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGG GTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCTGGGCGACTACTG CGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTG AGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(608): Show ATGATGGTGATGATGGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGG GGTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTG GTGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGAT GGGGGTGACGGTGGTGGTGATGATGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGATGATGGTGGTGATGGTGGTGATAGTGATGATGGTGGTGATG GTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGT GGTGATGGTGGTGACGGTGATGGTGGTGATGGTGGTGGTGATGGTGATGG TGGTGGTGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTG ATGGTGAGATGGTGGTGATGGTGGTGATGGTGATGGTGATGGTGGCAGTG ATGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGAT GGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGATGGTGAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0040 a0001c0001t0008g0040	1	86	0.0116	615	c.21 others(630): Show c.21-379_*21-378insATCACCATCACCACCATCACCACCACCACC ACCATCACCACCACCACCATCACCATCACCACCACCATCACCACCATCAC CACCATCACCATCACCACCACCACCATCACCACCATCACTGCCACCATCA CCATCACCATCACCACCATCACCACCATCTCACCATCACCACCACCATCA CCACCATCATCACCATCACCACCACCACCACCACCACCATCACCATCACC ACCACCATCACCACCATCACCGTCACCACCATCACCACCACCACCATCAC CACCATCATCACCATCACCACCACCATCACCACCACCATCACCACCATCA TCACTATCACCACCATCACCACCATCATCACCACCACCACCACCACCATC ACCACCACCACCATCATCACCACCACCGTCACCCCCATCATTACCATCAC CACCACCACCACCACCACCATGACCACCACCACCACCACTCTCACCATCA TCATCACTGTCACCACCACCACCACCACCACCACCATCACTACCATCGTC ACCATCACCACTACCTCCATCTCCACCACTACCACCCCCACCACCACTCT CACCACCATCACCATCACCCCCATCATCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(608): Show ATGATGGTGATGATGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGGG GTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTGG TGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGATG GGGGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGA TAGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATG ATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGAT GGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGA TGGTGGTGATGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATG GTGGTGATGGTGATGGTGGCAGTGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGA TGGTGGTGGTGGTGAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	86	0.0116	615	c.21 others(630): Show c.21-379_*21-378insATCACCACCACCACCATCACCATCACCACC ACCATCACCACCATCACCACCATCACCACCATCACCATCACCACCACCAC CATCACCACCATCACTGCCACCATCACCATCACCACCATCACCACCATCA CCACCATCATCACCACCACCACCACCATCACCACCATCATCACCATCACC ACCACCACCACCACCACCATCACCATCACCACCACCATCACCACCATCAC CGTCACCACCATCACCACCACCACCATCACCACCATCATCACCATCACCA CCACCATCACCACCACCATCACCACCATCATCACTATCACCACCATCACC ACCATCATCACCACCACCACCACCACCATCACCACCACCATCACCACCAT CACCATCACCACCATCATCACCACCACCGTCACCCCCATCATTACCATCA CCACCACCACCACCACCACCATGACCACCACCACCACCACTCTCACCATC ATCATCACTGTCACCACCACCACCACCACCACCACCATCACTACCATCGT CACCATCACCACTACCTCCATCTCCACCACTACCACCCCCACCACCACTC TCACCACCATCACCATCACCCCATCATCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(608): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCG TGCGGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGCGTGCATAGGGCCGGAGGCGGGGTACGTCGGGGGCGGGTGAGT AGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGT GAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGT GAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0053 a0053	a0053c0121 a0053c0121	a0053c0121t0005 a0053c0121t0005	a0053c0121t0005g0264 a0053c0121t0005g0264	1	103	0.0097	615	c.300 others(632): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC AGGTGAGTAGACGGCGTGCGGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGCCGGAGGCGGGGTACG TCGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGG TACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185767	G G	GTAGGGGC others(608): Show GTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGC GTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGG TGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTA GACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGCGTAGGGGCCAGAGGCGGGGGTGTGTACGGGGCGGGTGAGT AGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGT GAGTAGACGGCGTGCA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	194	0.0052	615	c.300 others(632): Show c.300-9186_300-9185insACGTGGGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTA GACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGG GGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAG TAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGCGTAGGGGCCAGAGGCGGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAG GTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185767	G G	GTAGGGGC others(608): Show GTAGGGGCCGGAGGCGGGGTACGTGGGGGGGCGGGTGAGTAGACGGTCGG CGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG TCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAG ACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGG GTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGT GAGTAGACGGCGTGCA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0004 a0007c0004t0004	a0007c0004t0004g0020 a0007c0004t0004g0020	1	194	0.0052	615	c.300 others(632): Show c.300-9186_300-9185insACGTGGGGGGGCGGGTGAGTAGACGGTC GGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGA GTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAG GTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CADM2_chr3_84953989_86079429	85818864	C C	CAAGGTTC others(608): Show CAAGGTTCTCGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAA GAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGTAT TGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03579.hp2 HG02970.hp1 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0024 a0001c0003t0006 a0001c0003t0024	a0001c0003t0006g0034 a0001c0003t0024g0007 a0001c0003t0006g0034 a0001c0003t0024g0007	2	135	0.0148	615	c.238 others(634): Show c.238+16677_238+16678insGGCGATTCCTCAGGGATCTAGAACTA GAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGA GTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGG CACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATG ATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGC AGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAAT TGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACAC CGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACA CAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGG GGGAGGGATAGTATTGGGAGATATACCTAATGCTAGATGACACATTAGTG GGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCAC AATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTTCTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(608): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTA CTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGG GGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTGGGGG AAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGC AGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAAG GGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGGGTGTG GGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGGGTGGG GGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	4	0.2500	615	c.712 others(632): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTGCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCTCCCCCTCCCACCCCACCCCTCCCCAGCCCCACCCATAC CCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCCTTCCC CCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCCACCCC ACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAACCCTCC CCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCACCCAG GGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(608): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTA CTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGG GGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTGGGGG AAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGG AGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAAG GGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGGGTGTG GGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGGGTGGG GGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(25): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00408.hp2 HG00733.hp1 HG01099.hp1 HG01346.hp1 HG01358.hp1 HG01517.hp2 HG01943.hp2 HG02004.hp1 HG02165.hp2 HG02257.hp2 HG02698.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03927.hp2 NA18947.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19079.hp1 NA19085.hp1 NA20752.hp1 NA20805.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0003 a0001c0011 others(1): Show a0001c0001 a0001c0003 a0001c0011 a0009c0017	a0001c0001t0001 a0001c0001t0017 a0001c0001t0021 others(4): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0021 a0001c0001t0034 a0001c0003t0001 a0001c0011t0001 a0009c0017t0023	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0015 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0109 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0180 a0001c0001t0001g0220 a0001c0001t0001g0231 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0017g0026 a0001c0001t0021g0041 a0001c0001t0034g0282 a0001c0003t0001g0165 a0001c0003t0001g0190 a0001c0011t0001g0055 a0009c0017t0023g0045	28	31	0.9032	615	c.712 others(632): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCTCCCCCTCCCACCCCACCCCTCCCCAGCCCCACCCATAC CCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCCTTCCC CCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCCACCCC ACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAACCCTCC CCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCACCCAG GGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(608): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC CTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTC CCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	12	0.0833	615	c.-45 others(636): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCCTCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCC CTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTC CCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(608): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC CTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTC CCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	12	0.0833	615	c.-45 others(636): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCCTCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCC CTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTC CCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHRNA4_chr20_63338223_63366349	63354095	G G	GGCACTGT others(608): Show GGCACTGTAGCCCTAGGGTGGGATGAAGTCCTGGGAGGACTGTGGTCCTG GCAGGGAATGTGGTCCTGGGGGCCTGTGGTCCTGGGGGGCTGTGGTCCTG GGGGAGCTGTGGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGTGGTCCTAA ATGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTAG GGGGCTGTGGTCCTGGCGGGGGGGCTGCGGTCCTAGGGGTGTTGTAGTCC TAGGGGGCTGTGGTCAGGCAAGAACTGTGATCCTTGTGGGGGCTGCAGTT CTGCAGGAGGCACTGTAGCCCTAGGGTGGGATGAAGTCCTGGGAGGACTG TGGTCCTGGCAGGGAATGTGGTCCTGGGGGCCTGTGGTCCTGGGGGGCTG TGGTCCTGGGGGAGCTGTGGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGT GGTCCTAAATGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTGGGGGGCTGT GGTCCTAGGGGGCTGTGGTCCTGGGGGGGAGCTGCTGTCCTAGGGGTGTT GTAGTCCTAGGGGGCTGTGGTCAGGCAAGAACTGTGATCCTTGTGGGGGC TGCAGTTCTGCAGGAA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0077 a0001c0008t0001g0077	1	72	0.0139	615	c.383 others(632): Show c.383+1879_383+1880insTTCCTGCAGAACTGCAGCCCCCACAAGG ATCACAGTTCTTGCCTGACCACAGCCCCCTAGGACTACAACACCCCTAGG ACAGCAGCTCCCCCCCAGGACCACAGCCCCCTAGGACCACAGCCCCCCAG GACCACAGCCCCCCAGGACCACAGCCCCATTTAGGACCACAGCCCCCTAG GACCACAGCCCCCCAGGACCACAGCTCCCCCAGGACCACAGCCCCCCAGG ACCACAGGCCCCCAGGACCACATTCCCTGCCAGGACCACAGTCCTCCCAG GACTTCATCCCACCCTAGGGCTACAGTGCCTCCTGCAGAACTGCAGCCCC CACAAGGATCACAGTTCTTGCCTGACCACAGCCCCCTAGGACTACAACAC CCCTAGGACCGCAGCCCCCCCGCCAGGACCACAGCCCCCTAGGACCACAG CCCCCCAGGACCACAGCCCCCCAGGACCACAGCCCCATTTAGGACCACAG CCCCCTAGGACCACAGCCCCCCAGGACCACAGCTCCCCCAGGACCACAGC CCCCCAGGACCACAGGCCCCCAGGACCACATTCCCTGCCAGGACCACAGT CCTCCCAGGACTTCATCCCACCCTAGGGCTACAGTGC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
COL17A1_chr10_104026286_104090880	104036145	G G	GGAGTGTG others(608): Show GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG TGCGTATGGGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTATGGGAGAG TGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGGGAGTGTGTGTA TGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGGGAGTGTG TGTATGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAG TGTGAGTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGG AGTGTATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTAT GGGAGTGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTAT GGGTGTGTGTATGGGAGTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGT ATGGGAGTGAGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGT ATGGGAGTGAGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGG GAGTGAGTGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGG GAGTGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0031 a0002c0010t0001g0031	1	212	0.0047	615	c.341 others(632): Show c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACTCACTCCCATACACACACACAC CCATACTCACACTCCCATACACACACACTCACTCCCATACACACACACCC ATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACACTC CCATACACACACACCCATACACTCCCATACACACTCCCATACACAACCCA TACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACACA CTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACACA CACTCCCATACACACACACCCATACTCACACTCATACACACACTCCCATA CACACACATACCCATACACTCCCATACACACACACTCATACACACACTCC CATACACACACATACCCATACACTCCCATACACACACACTCTCCCATACA CACCCATACTCACACTCCCATACACACACCCATACGCACACTCCCACTCA CACTCACTCCCATACACTCCCATAGACACACACACTC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(608): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATCAGATATATATATCA TATATATCATATATATCATTTGTATCATATATATATCATATATATCATAT GTATCATATATATCATGTATATATCATATATATCATATATATCATATATG TATTCATATATATCATATATATTCATATATCATATATATTCATATATATC ATATATTCATATATATCATATATATTCATATATATCATATATATTCATAT ATATCATATATATTCATATATATCATATATATTCATATATATATCATATA TATTCATATATATATCATATATATTCATATATATATCATATATATTCATA TATATATCATATATATTCATATATATATCATATATATTCATATATATATC ATATATATTCATATATATATCATATATATTCATATATATATCATATATAT TCATATATATATCATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	4	0.2500	615	c.267 others(632): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATCAGATATATATATCATA TATATCATATATATCATTTGTATCATATATATATCATATATATCATATGT ATCATATATATCATGTATATATCATATATATCATATATATCATATATGTA TTCATATATATCATATATATTCATATATCATATATATTCATATATATCAT ATATTCATATATATCATATATATTCATATATATCATATATATTCATATAT ATCATATATATTCATATATATCATATATATTCATATATATATCATATATA TTCATATATATATCATATATATTCATATATATATCATATATATTCATATA TATATCATATATATTCATATATATATCATATATATTCATATATATATCAT ATATATTCATATATATATCATATATATTCATATATATATCATATATATTC ATATATATATCATATATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRELD2_chr22_49913634_49932537	49926655	T T	TGGGTCCC others(608): Show TGGGTCCCCTCTTGCCCCTCCCTCCCCCCCGTCCCCTCTTTCTCCTCCCT CCCCCCCACCCTCGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCGTCCCCTCTT TCTCCTCCCTCCCCCCCACCCTCGGTCCCCTCTTGCCCCTCCCTCCCCCC CACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCT TGCCCCTCCCTCCCCCCGTCCCCTCTTTCTCCTCCCTCCCCCCCCACCCT CGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCC CTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCC GGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCC TCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCC GGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCC TCCCTCCCCCCACCCC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0034 a0001c0003t0002g0034	1	280	0.0036	615	c.101 others(632): Show c.1010-572_1010-571insCGTCCCCTCTTTCTCCTCCCTCCCCCCC ACCCTCGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTT GCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCA CCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCGTCCCCTCTTTCTCCTC CCTCCCCCCCACCCTCGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCG GGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCT CCCTCCCCCCGTCCCCTCTTTCTCCTCCCTCCCCCCCCACCCTCGGTCCC CTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CSF2RA_chrX_1263814_1314935	1297522	G G	GTCTCCTA others(608): Show GTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGAC CCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTAT TCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGG AACCCTACAGTCCCCTACCCATGACCCCTGGTGGAACCCTACAGTCCCCT ACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCGTACA GTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAA CCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCT GGTGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCAT GACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCC TACCCATGATCCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCCTAC AGTCCCCTACCCATGACCCCTGGAGTAACCCTACAGTCCCCTACTCACGA CCCCTACAGTCTCCTACCCATGACCCCTGGTGGAACCCTACAGTCCCCTA CTCACGACCCCTACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01169.hp1 HG00639.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0077 a0001c0002t0003g0154 a0001c0002t0001g0077 a0001c0002t0003g0154	2	116	0.0172	615	c.810 others(632): Show c.810+2088_810+2089insAGAACCCTACAGTCCCCTACTCACGACC CCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTATT CAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGA ACCCTACAGTCCCCTACCCATGACCCCTGGTGGAACCCTACAGTCCCCTA CTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCGTACAG TCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAAC CCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTG GTGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATG ACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCT ACCCATGATCCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCCTACA GTCCCCTACCCATGACCCCTGGAGTAACCCTACAGTCCCCTACTCACGAC CCCTACAGTCTCCTACCCATGACCCCTGGTGGAACCCTACAGTCCCCTAC TCACGACCCCTACACTCTCCTACCCATGACCCCTGGC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CUL4A_chr13_113204613_113272108	113232154	G G	GTCACCAC others(608): Show GTCACCACCACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACC CGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCA CCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCAT TACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCC ACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTG TCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCAC CACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTAC CTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01515.hp1 HG02738.hp2 HG00280.hp2 HG01515.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0002 a0001c0001t0008g0261 a0001c0001t0001g0002 a0001c0001t0008g0261	3	304	0.0099	615	c.513 others(632): Show c.513-1023_513-1022insTCACCACCACCCGCCCACCACCATTACT GCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACC TGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCAT TACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCC ACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTG CTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCAC CACCATTACTGTCACCACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232154	G G	GTCACCAC others(608): Show GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACCACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATT ACTGCTGCCACCACTACCCGCCCACCACTATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTAC TGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTG CTGCCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCAC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTAC CTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	302	0.0033	615	c.513 others(632): Show c.513-1023_513-1022insTCACCACTACCTGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACCACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACT ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCC ACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCCACCACCATTA CTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCAC CACCATTACTGTCACCACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DCDC2C_chr2_3698575_3853008	3725401	G G	GGCAGAGA others(608): Show GGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGAT CCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGA CCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAG GGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGG AGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCA GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGA TCCCAGAGGAAGACGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0175 a0001c0002t0008g0175	1	174	0.0057	615	c.340 others(632): Show c.340-1594_340-1593insGGAGGAGGCTGCCCGGTGGATCCCGGAG GAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGG AGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCC GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGA TCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGA GGGAGATGAGCAGGGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGA CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCA GAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGG GAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIP2C_chr10_269201_694668	478315	A A	AGGGGAGA others(608): Show AGGGGAGAAGAGGGGAGGGGAGGGGAGGAGAAGGGAGGGGAGGGGAGGAG AAGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGAG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGAG AGGGGAGGGGAGGGGAGAAGAGGGGAGGGGAGGGGAGAAGGGAGGGGAGG GGGGGAGAAGGGAGGGGAGGGGAGGGGAGAAGAGGGGAGGGGAGGGGAGG GGAGGGGAGAAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGAAGAGGGGAGGGGAGGGGAGGGGAGAAGAGGGGAGGGGAGG GGAGGGGAGAAGAGGGGAGGGGAGGGGAGGGGAGAAGAGGGGAGGGGAGG GGAGGGGAGAAGAAGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGA AGAAGGGAGGGGGAGGGGAGGAGAAGGGAGGGGAGGGGAGGAGAAGGGAG GGGAGGGGAGGAGAAGGGAGGGGAGGGGAGGAGAAGGGAGGAGAAGGGAG GGGAGGGGAGGAGAGGGGAGAAGAGGGGAGGGGAGGGGAGGGGAGGGGAG AAGAAGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0065 a0001c0017t0002g0065	1	85	0.0118	615	c.158 others(632): Show c.158-5767_158-5766insCCTCCCCTCCCTTCTTCTCCCCTCCCCT CCCCTCCCCTCCCCTCTTCTCCCCTCTCCTCCCCTCCCCTCCCTTCTCCT CCCTTCTCCTCCCCTCCCCTCCCTTCTCCTCCCCTCCCCTCCCTTCTCCT CCCCTCCCCTCCCTTCTCCTCCCCTCCCCCTCCCTTCTTCTCCCCTCCCC TCCCTTCTTCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCC TCTTCTCCCCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCCCC TCTTCTCCCCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCCCC TCCCCTCTTCTCCCCTCCCCTCCCCTCCCTTCTCCCCCCCTCCCCTCCCT TCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCTCCTCCCCTCC CCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCC CCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCTTCTCCTCCCCTCC CCTCCCTTCTCCTCCCCTCCCCTCCCCTCTTCTCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(608): Show AGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGGAG GAGGAGGGAGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGG GAGGGAGGGGGGAGGAGGAGGGGGGAGGAGGGGGGAGGAGGGAGGAGGAG GGGGGAGGAGGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGGAGGAGG GAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGGG GAGGAGGAGGGGGAGGAGGGGGAGGAGGGGGGAGGAGGGGGAGGAGGGAG GAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGGGGAGGAGGAGGGGG AGGAGGGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGGGAGGAGGGAG GGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGAGGG GGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGAG GGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGGGAGGGGGAGG GGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAG GAGGAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0069 a0069	a0069c0217 a0069c0217	a0069c0217t0001 a0069c0217t0001	a0069c0217t0001g0237 a0069c0217t0001g0237	1	98	0.0102	615	c.118 others(634): Show c.11806-562_11806-561insCTCCTCCCTCCTCCTCCTCCTCCTCC TCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCCCTCCCCCTC CCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCCC CTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCTCCT CCCCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCCCTCCCTCCTC CCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCTC CTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTC CCCCTCCTCCCCCCTCCTCCCCCTCCTCCCCCTCCTCCTCCCCCTCCTCC CCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCC CTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCTCCCCCCTCCTC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCTCCTCCTCCCTCCTC CTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
EGFL7_chr9_136657916_136677678	136675317	C C	CAGGGGGC others(608): Show CAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCC AGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAG GCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGAC TGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAG GGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGG GGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCA GGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTG GGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGC AGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAG GGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGC CAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTA GGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGA CTGGGAGCAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	265	0.0038	615	c.30 others(626): Show c.3031_*3032insAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCA GGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAG GGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGC AGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCT GGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGG CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAG CAGGTAGGCTGGGGACTGGGAGCAGGGAGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2640		chr9	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGGTGGA others(608): Show GTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGG TGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0160 a0003c0002t0001g0160	1	145	0.0069	615	c.190 others(634): Show c.1909+7347_1909+7348insAGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGT GATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EPHB2_chr1_22705839_22926500	22754841	G G	GGAGGTGA others(608): Show GGAGGTGAGGGGCAGGGGAGGGGAGATGAGGGGCAGGGGAGGGGAGGTGA GGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGGGAGGGGCAAGGGAGG TGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGATGAGAGGC AGGTGAGGTGAGATGAGGGGCAGGGAAGGTGAGATGAGGGACAGGGGAGG TGAGGTGAGGGTCAGGGGAGGTGAGAGGCAGGTGAGGTGAGATGAGGGGC AGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGGGATGGGGAGGT GAGGTGAGGGGCAGGGGAGGTGAGGGGAGGTGAGATGAGGGGCAGGTGAG ATGAGGGGCAGGTGAGGTGAGGGGCAAGGGAGGTGAGATGAGGGGCAGGT GAGGTGAGATGAGGGGCAGGTGAGGTGAGACGTGGGGCAGGTGAGGTGAG GGACAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGACAGGT GAGGTGAGGGGCAGGGGAGGTGAGGCGAGGGTCAGGGAAGCTGAGGCGAG GGGCAGGGGAGGTGAGGTAAGGGGCAGGGGAGGTGAGGGGCAGGGGAGGT GAGGGGCAGGGGAGGT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01109.hp1 others(21): Show HG01070.hp1 HG01071.hp2 HG01109.hp1 HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03195.hp2 HG03209.hp2 HG03540.hp2 HG03579.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009 a0001c0013 a0001c0016	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(12): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0037 a0001c0001t0052 a0001c0002t0001 a0001c0002t0009 a0001c0002t0013 a0001c0003t0041 a0001c0008t0001 a0001c0009t0012 a0001c0013t0024 a0001c0016t0017	a0001c0001t0002g0051 a0001c0001t0002g0058 a0001c0001t0005g0063 others(21): Show a0001c0001t0002g0051 a0001c0001t0002g0058 a0001c0001t0005g0063 a0001c0001t0005g0077 a0001c0001t0005g0128 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0001t0006g0131 a0001c0001t0007g0041 a0001c0001t0007g0079 a0001c0001t0008g0127 a0001c0001t0008g0129 a0001c0001t0037g0078 a0001c0001t0052g0062 a0001c0002t0001g0089 a0001c0002t0001g0101 a0001c0002t0009g0214 a0001c0002t0013g0100 a0001c0003t0041g0215 a0001c0008t0001g0116 a0001c0009t0012g0122 a0001c0013t0024g0092 a0001c0016t0017g0130	24	88	0.2727	615	c.62- others(632): Show c.62-26570_62-26569insGCAGGGGAGGGGAGATGAGGGGCAGGGG AGGGGAGGTGAGGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGGGAGG GGCAAGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGG AGATGAGAGGCAGGTGAGGTGAGATGAGGGGCAGGGAAGGTGAGATGAGG GACAGGGGAGGTGAGGTGAGGGTCAGGGGAGGTGAGAGGCAGGTGAGGTG AGATGAGGGGCAGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGG GATGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAGGTGAGATGAG GGGCAGGTGAGATGAGGGGCAGGTGAGGTGAGGGGCAAGGGAGGTGAGAT GAGGGGCAGGTGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGTGGGGCA GGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGT GAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAGGCGAGGGTCAGGGAA GCTGAGGCGAGGGGCAGGGGAGGTGAGGTAAGGGGCAGGGGAGGTGAGGG GCAGGGGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(608): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	181	0.0055	615	c.953 others(630): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTTATTTATTTTTTT TTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTT ACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCA TCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACC CCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATC TCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTT TGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGT CCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCA TGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACAT TTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACAT ACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATA TACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCC CTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
FAM83F_chr22_39989954_40048534	40007327	T T	TCTCCTCC others(608): Show TCTCCTCCTCCTCTCCTCTCCTCCTCCTCCTCTCTTCCTCCTTTCCTCCT CTCCTCCCCTGTCCTCTCCTCCTCCTCTCCTCTCCTCCTCCTCTCCTCCT CCTGCTTGCCTCCTCCTCTCTTCCTCCTCTCCTCCTCTTCTGCTCCTTTC CTCCTCCTCCTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCTGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CTTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCTCCTCCTTCTTTCCTCCTCCTCTCTT CCTCCTCTCCTCCTCCTCCTCTCCTCTCCTCCTCCTCTCCTCTCCTCCTC TCCTCTCCCTTTCTTCTTCCTCTCCTCCTCTTCTCCTCCTCTCCTCTTCC TCCTCCTCTTCTCCTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19030.hp2 HG03195.hp2 NA19030.hp2	a0001 a0009 a0001 a0009	a0001c0009 a0009c0013 a0001c0009 a0009c0013	a0001c0009t0046 a0009c0013t0045 a0001c0009t0046 a0009c0013t0045	a0001c0009t0046g0085 a0009c0013t0045g0119 a0001c0009t0046g0085 a0009c0013t0045g0119	2	73	0.0274	615	c.489 others(634): Show c.489+11801_489+11802insCCTCCTCTCCTCTCCTCCTCCTCCTC TCTTCCTCCTTTCCTCCTCTCCTCCCCTGTCCTCTCCTCCTCCTCTCCTC TCCTCCTCCTCTCCTCCTCCTGCTTGCCTCCTCCTCTCTTCCTCCTCTCC TCCTCTTCTGCTCCTTTCCTCCTCCTCCTTCTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCG CCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTTGGCCTCC CAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTCCTCCTT CTTTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCTCCTCTCCTCTCCTCC TCCTCTCCTCTCCTCCTCTCCTCTCCCTTTCTTCTTCCTCTCCTCCTCTT CTCCTCCTCTCCTCTTCCTCCTCCTCTTCTCCTCCTCCT	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
GAL3ST2_chr2_241771822_241809287	241807573	C C	CCCCCTCA others(608): Show CCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACC CAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTC AGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGAC CTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACC CAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	307	0.0033	615	c.34 others(626): Show c.3407_*3408insCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTC CCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCC CCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTC CCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCTGCAGGCCACCCTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3287		chr2	TogoVar
GET4_chr7_871554_901436	889720	T T	TGCGAGCG others(608): Show TGCGAGCGGGGTAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGGT GTTAGGACGGGGCCTGGGAGTGGAGCGCGGAGCGAGAGGGCTGTGAGACG AGCGGGTCTTAGGACGGGCCTGGGAGTGGAGGGAGAGAGCGGGTGTTAGG ACGGGGTCTGGGAGTGGGAGGGAGCGCGAGCGGGGTGTCAGGACCGGGGT CTGGGAGTGGAGGGAGCGCGAAGCGGGTGTCAGGACGGGGTCTGGAGTGG AGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCG AGCGGGTGTGTCAGGGACGGGGTCTGGGAGTGGAGGGGAGCGCGAGCGGG TGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACG GGGCCTGGAGTGGAGGAGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGA GTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAG CGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGT GTCAGGACGGGGTCTGGGAGTGAGGGAGCGCGAGCGGGTGTCAGGACGGG TCTGGAGTGGAGGAGC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	378	0.0026	615	c.467 others(632): Show c.467-1199_467-1198insGTAGGACGGGGTCTGGGAGTGGAGGGAG CGAGAGCGGGGTGTTAGGACGGGGCCTGGGAGTGGAGCGCGGAGCGAGAG GGCTGTGAGACGAGCGGGTCTTAGGACGGGCCTGGGAGTGGAGGGAGAGA GCGGGTGTTAGGACGGGGTCTGGGAGTGGGAGGGAGCGCGAGCGGGGTGT CAGGACCGGGGTCTGGGAGTGGAGGGAGCGCGAAGCGGGTGTCAGGACGG GGTCTGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGCGCGAGCGGGTGTGTCAGGGACGGGGTCTGGGAGTGGAGGGG AGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCG GGTGTCAGGACGGGGCCTGGAGTGGAGGAGAGCGCGAGCGGGTGTCAGGA CGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGG GAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGG AGCGCGAGCGGTGTCAGGACGGGGTCTGGGAGTGAGGGAGCGCGAGCGGG TGTCAGGACGGGTCTGGAGTGGAGGAGCGCGAGCGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GNAL_chr18_11684264_11890685	11804343	G G	GAGTGGAA others(608): Show GAGTGGAACATGGAGATTCTGTGTAGTGGTGAAGTACAGGTGCAGTTTGG ATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCAGTTTGGAT GGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGAGCAGTTTGAGTGG AACACGGAGATACTGTGTAGTGGTGAAGTACAGGTAAAGTTTGGAACACG GAGATACTGTGTAGTGGTGAAGTACAGGAGCAGTTTGAGTGGAACACGGA GATACTGTGTAGTGGTGAAGTACAGGTGCAGTTTGGATGGAACACGGAGA TACTGTGTAGCGGTGAAGTACAGGTGCAGTTTGGATGGAACACGGAGATA CTGTGTAGTGGTGAAGTACAGGTGCAGTTTGAGTGGAACATGGAGATTCT GTGTAGTGGTGAAGTACAGGTGCAGTTTGGATGGAACACGGAGATACTGT GTAGTGGTGAAGTACAGGTGCAGTTTGGATGGAACACGGAGATACTGTGT AGTGGTGAAGTACAGGAGCAGTTTGAGTGGAACACGGAGATACTGTGTAG TGGTGAAGTACAGGTAAAGTTTGGAACACGGAGATACTGTGTAGTGGTGA AGTACAGGAGCAGTTT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0101 a0001c0001t0102g0101	1	246	0.0041	615	c.625 others(634): Show c.625-20575_625-20574insAGTGGAACATGGAGATTCTGTGTAGT GGTGAAGTACAGGTGCAGTTTGGATGGAACACGGAGATACTGTGTAGTGG TGAAGTACAGGTGCAGTTTGGATGGAACACGGAGATACTGTGTAGTGGTG AAGTACAGGAGCAGTTTGAGTGGAACACGGAGATACTGTGTAGTGGTGAA GTACAGGTAAAGTTTGGAACACGGAGATACTGTGTAGTGGTGAAGTACAG GAGCAGTTTGAGTGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGT GCAGTTTGGATGGAACACGGAGATACTGTGTAGCGGTGAAGTACAGGTGC AGTTTGGATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCAG TTTGAGTGGAACATGGAGATTCTGTGTAGTGGTGAAGTACAGGTGCAGTT TGGATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCAGTTTG GATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGAGCAGTTTGAG TGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTAAAGTTTGGAAC ACGGAGATACTGTGTAGTGGTGAAGTACAGGAGCAGTTT	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11			chr18	TogoVar
GNAL_chr18_11747085_11890685	11804343	G G	GAGTGGAA others(608): Show GAGTGGAACATGGAGATTCTGTGTAGTGGTGAAGTACAGGTGCAGTTTGG ATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCAGTTTGGAT GGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGAGCAGTTTGAGTGG AACACGGAGATACTGTGTAGTGGTGAAGTACAGGTAAAGTTTGGAACACG GAGATACTGTGTAGTGGTGAAGTACAGGAGCAGTTTGAGTGGAACACGGA GATACTGTGTAGTGGTGAAGTACAGGTGCAGTTTGGATGGAACACGGAGA TACTGTGTAGCGGTGAAGTACAGGTGCAGTTTGGATGGAACACGGAGATA CTGTGTAGTGGTGAAGTACAGGTGCAGTTTGAGTGGAACATGGAGATTCT GTGTAGTGGTGAAGTACAGGTGCAGTTTGGATGGAACACGGAGATACTGT GTAGTGGTGAAGTACAGGTGCAGTTTGGATGGAACACGGAGATACTGTGT AGTGGTGAAGTACAGGAGCAGTTTGAGTGGAACACGGAGATACTGTGTAG TGGTGAAGTACAGGTAAAGTTTGGAACACGGAGATACTGTGTAGTGGTGA AGTACAGGAGCAGTTT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0042 a0001c0001t0082g0042	1	282	0.0035	615	c.394 others(634): Show c.394-20575_394-20574insAGTGGAACATGGAGATTCTGTGTAGT GGTGAAGTACAGGTGCAGTTTGGATGGAACACGGAGATACTGTGTAGTGG TGAAGTACAGGTGCAGTTTGGATGGAACACGGAGATACTGTGTAGTGGTG AAGTACAGGAGCAGTTTGAGTGGAACACGGAGATACTGTGTAGTGGTGAA GTACAGGTAAAGTTTGGAACACGGAGATACTGTGTAGTGGTGAAGTACAG GAGCAGTTTGAGTGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGT GCAGTTTGGATGGAACACGGAGATACTGTGTAGCGGTGAAGTACAGGTGC AGTTTGGATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCAG TTTGAGTGGAACATGGAGATTCTGTGTAGTGGTGAAGTACAGGTGCAGTT TGGATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCAGTTTG GATGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGAGCAGTTTGAG TGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTAAAGTTTGGAAC ACGGAGATACTGTGTAGTGGTGAAGTACAGGAGCAGTTT	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11			chr18	TogoVar
ICA1_chr7_8108184_8267167	8152654	C C	CACCACCA others(608): Show CACCACCACCACCACCATCTCCTTCACCACCACTACCCCCACCACTACCA CCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACC ACCACCACCATCTCCTTCACCACCACTACCCCCAGCACTACCACCATCAC CTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCACCA CCATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCC TCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTAC CCCCACCACTACCACCATCACCATCACCTCCACCACCACCACCACCACCA CCACCATCTCCTTCAACACCACTACCCCCACCACTACCACCATCACCTCC ACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCACCAT CACCATCACCTCCACCACCACCACCATCTCCTTCATCACCACTACCCCCA CCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAAC ACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACCAT CTCCTCCACCACCACT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0174 a0001c0001t0007g0174	1	52	0.0192	615	c.804 others(632): Show c.804+4461_804+4462insAGTGGTGGTGGAGGAGATGGTGGTAGTG GTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGAT GGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGG TGATGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTG GTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGT GGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGTGG TGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATG AAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGT GGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGG TAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTA GTGCTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGT GGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGG GGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IDE_chr10_92446684_92579093	92524325	T T	TATTATAT others(608): Show TATTATATTATATATAATATATTTTATATAATATATAATATATATTATAT TATATATAATATATTTTATATAATATATAATATATATTATATTATATATA ATATATTTTATATAATATATAATATATATTATATTATATATAATATATTT TATATAATATATAATATATATTATATTATATATAATATATTTTATATAAT ATATAATATATATTATATTATATATAATATATTTTATATAATATATAATA TATATTATATTATATATAATATATTTTATATAATATATAATATATATTAT ATTATATATATTTTATATAATATATAATATATATTATATTATATATAATA TATTTTATATAATATATAATATATATTATATTATATATAATATATTTTAT ATAATATATAATATATATTATATTATATATAATATATTTTATATAATATA TAATATATATTATATTATATATAATATATTTTATATAATATATAATATAT ATTATATTATATATAATATATTTTATATAATATATAATATATATTATATT ATATATAATATATTTTATATAATATATAATATATATTATATTATATATAA TATATTTTATATAATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03516.hp1 HG02486.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0298 a0001c0001t0002g0281 a0001c0001t0002g0298	2	252	0.0079	615	c.661 others(632): Show c.661+7422_661+7423insTATTATATAAAATATATTATATATAATA TAATATATATTATATATTATATAAAATATATTATATATAATATAATATAT ATTATATATTATATAAAATATATTATATATAATATAATATATATTATATA TTATATAAAATATATTATATATAATATAATATATATTATATATTATATAA AATATATTATATATAATATAATATATATTATATATTATATAAAATATATT ATATATAATATAATATATATTATATATTATATAAAATATATTATATATAA TATAATATATATTATATATTATATAAAATATATATAATATAATATATATT ATATATTATATAAAATATATTATATATAATATAATATATATTATATATTA TATAAAATATATTATATATAATATAATATATATTATATATTATATAAAAT ATATTATATATAATATAATATATATTATATATTATATAAAATATATTATA TATAATATAATATATATTATATATTATATAAAATATATTATATATAATAT AATATATATTATATATTATATAAAATATATTATATATAATATAATATATA TTATATATTATATAAAATATATTATATATAATATAAT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IFNAR1_chr21_33319970_33364864	33323368	G G	GAATATAT others(608): Show GAATATATATATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATGGAATGTATATATGGAATATATATATGGAA TGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTAT ATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATG TGGAATGTATATGTGGAATGTATATATGTGGAATGTATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT GGAATATATATATATGGAATATATATATGGAATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATATGGAATATATATATATGGAA TATATATATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0142 a0001c0001t0021g0142	1	3	0.3333	615	c.-16 others(626): Show c.-1688_-1687insAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATGGAATGTATATATGG AATATATATATGGAATGTATATATGTGGAATGTATATATGTGGAATGTAT ATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATG TGGAATGTATATATGTGGAATGTATATGTGGAATGTATATATGTGGAATG TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATGGAATATATATATATGGAATATATATATGGAATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1601		chr21	TogoVar
JAKMIP3_chr10_132060946_132189858	132173147	C C	CCTCTCTC others(608): Show CCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTC TCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTC TCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCCC TCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCCT CCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCTCCCCTCCCCCTCCTC TCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCC TCCCCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCC TCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCCTC CCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCT CTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCT CTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTC TCTCCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCT CTCCCCCTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0132 a0003c0003t0001g0132	1	141	0.0071	615	c.11 others(636): Show c.1103+4125_*1103+4126insCCCCTCCTTCCCTCTCTCTCTCCC CCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCC CCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCC TCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCC CTCCCCCCTCTCCTCCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCTC CCCTCCCCCTCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCC CCTCCCCCATCCCCTCCCCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCC TCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCC CCCCATCCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCT CCCCCTCCTTCCCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCC CTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTC CTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTT CCCCCTGTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF26A_chr14_104133587_104185894	104185779	A A	ATGGGGTG others(608): Show ATGGGGTGGGGTGATTGTAGGGGATGGGGTGGGGTAGAGGGGTGGGGTGG GGTGATTGTAGGGGATGGGGTGGGGTAGAGGGATGGGGTGGGGTGATTGT AGGGGGTGGGGTGGGGTAGAGGGATGGGGTGGGGTGATTGTAGGGGATGG GGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTA GAGGGGTGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGGTGG GGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTG ATTGTAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGG GGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGGTGGGGTG GGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGG GGTGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTG GGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTG TAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGGTG GGGTGGGGTAGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0066 a0001c0003t0012g0066	1	271	0.0037	615	c.59 others(626): Show c.5989_*5990insTGGGGTGGGGTGATTGTAGGGGATGGGGTGGGGT AGAGGGGTGGGGTGGGGTGATTGTAGGGGATGGGGTGGGGTAGAGGGATG GGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGATGGGGTGGGGT GATTGTAGGGGATGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGG GGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGGTGGGGT GGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAG GGGTGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGGTGGGGT GGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATT GTAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGGT GGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGG TAGAGGGGTGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGGT GGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGG TGATTGTAGGGGGTGGGGTGGGGTAGAGGGG	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding		4886		chr14	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(608): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGGTGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGACGGTAGGGGTGATGAC GGTGATGATGGGGGTGGGGGGGGTGATGACGGTGATGGCGGTGGGGGTGA TGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGG GGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGG GTGATGATGGTGAGGGTGATGGTGGGGGTGGGGGTGGGGGTGATGATGGT GATGGTGGGGGTGGGGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGA CGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTGATGG TAGGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGAGGGTGATG ATGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGATGATGGTGATGGT GGGGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGA TGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0014 a0014	a0014c0009 a0014c0009	a0014c0009t0001 a0014c0009t0001	a0014c0009t0001g0108 a0014c0009t0001g0109 a0014c0009t0001g0108 a0014c0009t0001g0109	2	32	0.0625	615	c.956 others(632): Show c.956+1962_956+1963insCCACCGTCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCCCCACCCCCACCCCCACCATCATCACCCTCA CCCCCACCCCCACCCCCACCCCCACCATCATCACCCCCACCATCACCATC ATCACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCAC CCCCACCCCCACCATCACCCCCACCATCATCACCCCTACCATCACCATCA TCACCCCCACCCCCACCGTCATCACCCCCACATCACCGTCATCACCCCCA CCGCCATCACCGTCATCACCCCCCCCACCCCCACCATCACCATCATCACC CCCACCCCCACCCCCACCATCACCCTCACCATCATCACCCCCACCCCCAC CATCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCGTCATCA CCCCCACCCCCACCGTCATCACCCCCACATCACCGTCATCACCCCCACCG CCATCACCGTCATCACCCCCCCCACCCCCATCATCACCGTCATCACCCCT ACCGTCATCACCCCCAGCCCCACCGTCATCACCCCCACCATCACCATCAC CACCCCCACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
MAP3K15_chrX_19355059_19520508	19478057	A A	AGAGTGGG others(608): Show AGAGTGGGGGAGAGGGGGGGAGGGGAGAGGGGGGAGAGGGGGAGGGGGGG AGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGAGGG GGGAGAGGGGGAGAGGGGGGAGAGGGGGAGGGGGGGGAGAGGGGGGAGGG GGGAGAGGGGGGAGGGGAGAGGGGGGGGGAGGGGGAGAGGGGGGGAGGGG GGAGAGGGGGGGAGGGGGAGAGGGGGGGGGAGGGGGAGAGGGGGGGAGGG GGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGGAGGGGGGGAG GGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGGGGA GGGAGGGGGAGAGGGGGGAAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGG GAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGGGAGAGGGGGGAGAGGG GGGAGGGGGGGAGAGGGGGGGAGGGGGTGAGGGGGGGAGGGGGGGAGAGG GGGGAGGGGGGAGAGGGGGGAGGGAGTGGGGGGGAGGGGGGGGAGAGGGG GGAGGGGAGAGGGGGGGAGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGAG GGGGGGAGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0161 a0002c0002t0020g0161	1	155	0.0065	615	c.525 others(632): Show c.525+8424_525+8425insCTCCCCCTCTCCCCCCCTCCCCCTCTCC CCCCTCCCCCCCTCTCCCCCTCCCCCCCTCTCCCCTCCCCCCTCTCCCCC CCCTCCCCCCCACTCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCC TCCCCCCCTCACCCCCTCCCCCCCTCTCCCCCCCTCCCCCCTCTCCCCCC TCTCCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCCTCTCCCC CCTCCCCCCTCTCCCCCCTTCCCCCCTCTCCCCCTCCCTCCCCCCCCTCT CCCCCCTCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCCTCCCCCCCTCC TCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCT CTCCCCCTCCCCCCCCCTCTCCCCCTCCCCCCCTCTCCCCCCTCCCCCCC TCTCCCCCTCCCCCCCCCTCTCCCCTCCCCCCTCTCCCCCCTCCCCCCTC TCCCCCCCCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCC TCCCCCTCCCCCCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCCCTCCCC CTCTCCCCCCTCTCCCCTCCCCCCCTCTCCCCCACTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MBD3L3_chr19_7051207_7063676	7061833	A A	AATTATAT others(608): Show AATTATATAATATATAATTATATTCTATATAATATAATTATATATTATAT AATTATATTCTATATAGAATATAATTATATAATATATAATTATATTCTAT ATAATATAATTATATAATATATAATTATATTCTATATAGAATATAATTAT ATAATATATAATTATATTCTATATTATATAATTATAATATAATTATATAA TATAATTATATTGTATATAATTATATTAAATATATTATATAATATATAAT TATATTAAATATTATATAATATATAATTATATTATATAAATATATTATAT TATATATTATATAATAATAATTATATTATATATTATATAATATATAATTA TATTATATATTATAATACATTTATATAATTATATTATAGATTATAATCTA TAATATAATTATATTAATAGTATTATAATATATAATATATTATATATAAT TATAATTATAACATATTATATATAATTATATTATAGATATAATCTATAAT ATACTTATATATAATATGTTATAATATATAATTATATTCTATATATAATT ATATATAATATAATTATATTCTATATAGAATATATTATATAATAATTATA TTCTATATAGAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	615	c.-32 others(626): Show c.-3229_-3228insATTATTCTATATAGAATATAATTATTATATAATA TATTCTATATAGAATATAATTATATTATATATAATTATATATAGAATATA ATTATATATTATAACATATTATATATAAGTATATTATAGATTATATCTAT AATATAATTATATATAATATGTTATAATTATAATTATATATAATATATTA TATATTATAATACTATTAATATAATTATATTATAGATTATAATCTATAAT ATAATTATATAAATGTATTATAATATATAATATAATTATATATTATATAA TATATAATATAATTATTATTATATAATATATAATATAATATATTTATATA ATATAATTATATATTATATAATATTTAATATAATTATATATTATATAATA TATTTAATATAATTATATACAATATAATTATATTATATAATTATATTATA ATTATATAATATAGAATATAATTATATATTATATAATTATATTCTATATA GAATATAATTATATATTATATAATTATATTATATAGAATATAATTATATA TTATATAATTATATTCTATATAGAATATAATTATATAATATATAATTATA TTATATAGAATATAATTATATATTATATAAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3158		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061870	T T	TATAATAT others(608): Show TATAATATATAATTATATTCTATATAGAATATAATTATATAATATATAAT TATATTATATATTATATAATTATAATATAATTATATAATATAATTATATT ATATAATTATAATATAATTATATAATATAATTATATTATATATAATTATA TTAAATATATTATATAATATATAATTATATTATATATTATATAATATATA ATTATATTATATATTATATAATATATAATTATATTATATATTATATAATA TATAATTATATTATATATTATATAATATATAATTATATTATATATTATAA TACATTTAATATAATTATATTATAGATTATAATCTATAATATAATTATAT TAATAGTATTATAATATATAATATATTATATATAATTATATTATAACATA TTATATATAATTATATTATAGATCATAATCTATAATATAATTATATATAA TATGTTATAATATATAATTATATTCTATATATAATTATATATAATATAAT TATATTCTGTATATAATTATATATAATATAATTATATTCTGTATATAATT ATATATAATTATATTCTATATATAATATAATTATATATAATTATATACAG AATATAATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG03710.hp1 HG02738.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	258	0.0078	615	c.-32 others(626): Show c.-3266_-3265insTATATATAATTATATTCTGTATATAATTATATAT AATTATATTATATATAGAATATAATTATATATAATTATATACAGAATATA ATTATATTATATATAATTATATACAGAATATAATTATATTATATATAATT ATATATAGAATATAATTATATATTATAACATATTATATATAATTATATTA TAGATTATGATCTATAATATAATTATATATAATATGTTATAATATAATTA TATATAATATATTATATATTATAATACTATTAATATAATTATATTATAGA TTATAATCTATAATATAATTATATTAAATGTATTATAATATATAATATAA TTATATATTATATAATATATAATATAATTATATATTATATAATATATAAT ATAATTATATATTATATAATATATAATATAATTATATATTATATAATATA TAATATAATTATATATTATATAATATATTTAATATAATTATATATAATAT AATTATATTATATAATTATATTATAATTATATAATATAATTATATTATAT AATTATATTATAATTATATAATATATAATATAATTATATATTATATAATT ATATTCTATATAGAATATAATTATATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3195		chr19	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(608): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGG GAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAG GGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGG TAGGGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGG AGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAG GGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGA GGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0203 a0002c0002t0002g0203	1	8	0.1250	615	c.250 others(630): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCCCTACCCTCCCCCTCCCC CCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCAC CCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCC CCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCT TCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTT CCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(608): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGG GAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAG GGGAGGGGGGGAGGGGAGGGGGGAGGGGGGGGGAGGGGGGAGGGGGAGGG TAGGGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGG AGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAG GGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGA GGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	8	0.1250	615	c.250 others(630): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCCCTACCCTCCCCCTCCCC CCTCCCCCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCAC CCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCC CCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCT TCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTT CCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MUC5AC_chr11_1152953_1206138	1171055	T T	TTCACCCA others(608): Show TTCACCCACTCACCGACTCAACCATTCACTCACCCATTCGCCCACTCATT CACCTCACTCACTCACCCACTCACCCACTCACTCATCCATTCACCCATTC ACACACTCACTCACTTACTCACTCACTCAACTTACTCACTCACCCACTCA CCCATTCACTCATTCACCCACTCATCCACTCACCCACTCACTCACCCATT CACCCACTCACTCACCTACTCACTCAGTCACCTCACTCACTCACTCACCC ATTCACTCACTCACCCACTCACCCACTCACCCATTCACTCACCCATTCAC CCATTCATCCACTCACTCACCTCACTCACTCACTCAACTTACTCGCCCAC TCACCCACTCACCCACTCACCTATTCACTCACTCACTCACCCACTCACCC ATTCACCCATTCACCCACTCAATCACCCACTGACTGACTCAACCATTCAC TCGCCTATTCGCCCACTCACTCACCTCACTCACTCACCCACTCACTCACC TCACTCACTCACCCACTCACCCATTCACCCACTCACCTACTCACTCACCC ACTCACCCATTCACCCACTCACCTACTCACTCACCCACTCACCCATTCAC CCATTCACCCACTCAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02818.hp1 HG02922.hp2 others(1): Show HG02109.hp2 HG02818.hp1 HG02922.hp2 HG03195.hp2	a0008 a0042 a0008 a0042	a0008c0019 a0042c0083 a0008c0019 a0042c0083	a0008c0019t0002 a0042c0083t0003 a0008c0019t0002 a0042c0083t0003	a0008c0019t0002g0008 a0042c0083t0003g0043 a0008c0019t0002g0008 a0042c0083t0003g0043	4	290	0.0138	615	c.187 others(634): Show c.1871-1355_1871-1354insACCATTCACTCACCCATTCGCCCACT CATTCACCTCACTCACTCACCCACTCACCCACTCACTCATCCATTCACCC ATTCACACACTCACTCACTTACTCACTCACTCAACTTACTCACTCACCCA CTCACCCATTCACTCATTCACCCACTCATCCACTCACCCACTCACTCACC CATTCACCCACTCACTCACCTACTCACTCAGTCACCTCACTCACTCACTC ACCCATTCACTCACTCACCCACTCACCCACTCACCCATTCACTCACCCAT TCACCCATTCATCCACTCACTCACCTCACTCACTCACTCAACTTACTCGC CCACTCACCCACTCACCCACTCACCTATTCACTCACTCACTCACCCACTC ACCCATTCACCCATTCACCCACTCAATCACCCACTGACTGACTCAACCAT TCACTCGCCTATTCGCCCACTCACTCACCTCACTCACTCACCCACTCACT CACCTCACTCACTCACCCACTCACCCATTCACCCACTCACCTACTCACTC ACCCACTCACCCATTCACCCACTCACCTACTCACTCACCCACTCACCCAT TCACCCATTCACCCACTCACTCACCCACTCACCGACTCA	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	15/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYOM2_chr8_2040046_2150456	2085561	T T	TGGCACCC others(608): Show TGGCACCCCACTGTCGTGATCTCCGCGTGGCCCCCCACTGTCGTGATCTC TGCGTGGCTTCCCACTGTTGTGATCTCTGCGTGGCCCCCTACTGTCGTGA TCTCCACGTGGCCACACACTGTCATGATCTCTGTGTGGCCCCCCACTGTC GTGATCTCTGTGTGGCCCACCGCTGTCGTGATCTCCGCGTGGCCCCTCAC TGTCGTGATCTCCGCGTGGCCCCTCACTGTCGTGATCTCTGTGTGGCCCA CCGCTGTCGTGATCTCCGCGTGGCCCCTCACTGTCGTGATCTCCGCGTGG CCCCACTGTCGTGATCTCCGCGTGGCCCCTCACTGTCGTGATCTCCGCGT GGCCCCCCACTGTCGTGATCTCTGCGTGGCTTCCCACTGTTGTGATCTCT GCGTGGCCCCCTACTGTCGTGATCTCCACGTGGCCACACACTGTCATGAT CTCTGTGTGGCCCCCCACTGTCGTGATCTCTGTGTGGCCCACCGCTGTCG TGATCTCCGCGTGGCCCCTCACTGTCGTGATCTCCGCGTGGCCCCTCACT GTCGTGATCTCTGTGTGGCCCACCGCTGTCGTGATCTCCGCGTGGCCCCT CACTGTCGTGATCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0112 a0001c0014t0002g0112	1	333	0.0030	615	c.164 others(632): Show c.1644+172_1644+173insGCACCCCACTGTCGTGATCTCCGCGTGG CCCCCCACTGTCGTGATCTCTGCGTGGCTTCCCACTGTTGTGATCTCTGC GTGGCCCCCTACTGTCGTGATCTCCACGTGGCCACACACTGTCATGATCT CTGTGTGGCCCCCCACTGTCGTGATCTCTGTGTGGCCCACCGCTGTCGTG ATCTCCGCGTGGCCCCTCACTGTCGTGATCTCCGCGTGGCCCCTCACTGT CGTGATCTCTGTGTGGCCCACCGCTGTCGTGATCTCCGCGTGGCCCCTCA CTGTCGTGATCTCCGCGTGGCCCCACTGTCGTGATCTCCGCGTGGCCCCT CACTGTCGTGATCTCCGCGTGGCCCCCCACTGTCGTGATCTCTGCGTGGC TTCCCACTGTTGTGATCTCTGCGTGGCCCCCTACTGTCGTGATCTCCACG TGGCCACACACTGTCATGATCTCTGTGTGGCCCCCCACTGTCGTGATCTC TGTGTGGCCCACCGCTGTCGTGATCTCCGCGTGGCCCCTCACTGTCGTGA TCTCCGCGTGGCCCCTCACTGTCGTGATCTCTGTGTGGCCCACCGCTGTC GTGATCTCCGCGTGGCCCCTCACTGTCGTGATCTCCG	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085885	C C	CCCCTACT others(608): Show CCCCTACTGTCATGATCTCCACGTGGCCACACACTGTCATGATCTCTGTG TGGCCCCCCACTGTCGTGATCTCTGTGTGGCCCACCGCTGTCGTGATCTC CGCGTGGCCCCTCACTGTCGTGATCTCCGCGTGGCCCCACTGTCGTGATC TCCGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCTTCCCACTGTTGTGA TCTCTGTGTGGCCCCTCACTGTCGTGATCTCTGTGTGGCCCCTCACTGTC ATGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCTCCCAC TGTTGTGATCTTTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCTC CCACTGTTGTGATCTTTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGG CACCCCACTGTCGTGATCTCCGCGTGGCCCCCCACTGTCGTGATCTCTGC GTGGCTTCCCACTGTTGTGATCTCTGCGTGGCCCCCTACTGTCATGATCT CCACGTGGCCACACACTGTCATGATCTCTGTGTGGCCCCCCACTGTCGTG ATCTCTGTGTGGCCCACCGCTGTCGTGATCTCCGCGTGGCCCCTCACTGT CGTGATCTCCGCGTGG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0094 a0094	a0094c0092 a0094c0092	a0094c0092t0001 a0094c0092t0001	a0094c0092t0001g0331 a0094c0092t0001g0331	1	397	0.0025	615	c.164 others(632): Show c.1644+498_1644+499insTACTGTCATGATCTCCACGTGGCCACAC ACTGTCATGATCTCTGTGTGGCCCCCCACTGTCGTGATCTCTGTGTGGCC CACCGCTGTCGTGATCTCCGCGTGGCCCCTCACTGTCGTGATCTCCGCGT GGCCCCACTGTCGTGATCTCCGCGTGGCCCCACTGTCGTGATCTCTGCGT GGCTTCCCACTGTTGTGATCTCTGTGTGGCCCCTCACTGTCGTGATCTCT GTGTGGCCCCTCACTGTCATGATCTCCGCGTGGCCCCCCACAGTCGTGAT CTCTGCGTGGCCTCCCACTGTTGTGATCTTTGCGTGGCCCCCCACAGTCG TGATCTCTGCGTGGCCTCCCACTGTTGTGATCTTTGCGTGGCCCCCCACA GTCGTGATCTCTGCGTGGCACCCCACTGTCGTGATCTCCGCGTGGCCCCC CACTGTCGTGATCTCTGCGTGGCTTCCCACTGTTGTGATCTCTGCGTGGC CCCCTACTGTCATGATCTCCACGTGGCCACACACTGTCATGATCTCTGTG TGGCCCCCCACTGTCGTGATCTCTGTGTGGCCCACCGCTGTCGTGATCTC CGCGTGGCCCCTCACTGTCGTGATCTCCGCGTGGCCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NCAPG2_chr7_158626169_158709804	158667548	C C	CCTCCTTA others(608): Show CCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGT CCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCA CTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTC CTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCT CCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACT GGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTAC CCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGC CCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGG TCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCA CTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTC CTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCT CCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTAC TGGGTCCCTCCGCCCT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	309	0.0032	615	c.148 others(634): Show c.1480-2799_1480-2798insAGGGCGGAGGGACCCAGTAGTGGGTA AGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTG GGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGAC CCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGG CGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGG AGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGT GGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar

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