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
IFFO2_chr1_18899280_18961676	18925853	T T	TGGATTGG others(748): Show TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGG ATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATTG GTTGGA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03927.hp1 HG03239.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0150 a0001c0001t0001g0152	2	376	0.0053	755	c.666 others(772): Show c.666-4733_666-4732insTCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAACCAT CCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA ACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCAT CCCTCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAACCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCATCCAACCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCAACCAATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(748): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0265 a0001c0001t0007g0265	1	376	0.0027	755	c.666 others(772): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATC CATCCAACCAATCCATCCCTCCATCCATCCATCCATCCATCCAACCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAT CCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CAACCAACCAATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(748): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAGGG ATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03491.hp1 HG01884.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0110 a0001c0001t0001g0111	2	376	0.0053	755	c.666 others(772): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAACCA ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCC ATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CAACCAACCAATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(748): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGG ATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0264 a0001c0001t0003g0264	1	376	0.0027	755	c.666 others(772): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAT CCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CAACCAACCAATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
INS_chr11_2154779_2166209	2161903	A A	ACACCCCT others(748): Show ACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCG GGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCG GGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCC TGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCC TGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCC GGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCAGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCA GACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCA GGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	376	0.0027	755	c.-75 others(764): Show c.-754_-753insCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCCCGGGGACAGGGGTGT GGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTG GGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCCCG GGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCG GGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAG GGGTCTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAG GGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGG GGTCCCGGGGACAGGGGTG	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		695		chr11	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GAGGTGAT others(748): Show GAGGTGATGGTGGTGGTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGG GGGTGGTGGTGGGGATGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTG CTGGTGGTAGAGGTTATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGGT GATAGTGGTGGTGGGGGTGGAGATGGTGATGGTAGTGGTGATGGTAGAGG TTATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGTTGGTA GAGGTGATGGTGATAGAGGTGATGGTGATGGTGGTGGTGGGGGTGATGGT GACAGGAGGTGGTGGCGATGATGGAAATGATGGTGGTAGTGAAGGTGATG GTGGTGGTGGTGATGGTAGTCGAGGTGATGGTGGTAGTGATGGTGGTGGT GGTGGAGGTGATGGTAGTGGAGGTGATGGTGGTGGAGATGATCATGATGG TGGTGGTGGTGATGGTGGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTG GTGGTAGAGGTGATGGTAATGGTGGAGGTGATGGTGGTGATGGTGGTAGT GAAAGTGATGGTGGTGATGGTGGAGGGTGTGGTGGTAGTGAAGGTGATGG TGGTGGTGGTGATGGCAGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTG GTGGTAGAGGTGATGGTAGAGGTGATGGTAATGGTGGAGGTGATGGTGGT GATGATGGTGGTAGTGAAAGTGATGGTGGTGATGGTTGAGGGTGTGGTGG TAGTGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	274	0.0037	755	c.480 others(774): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAACCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCTGCCATCACCACCACCACCATCACCTTCACTACCACC ACACCCTCCACCATCACCACCATCACTTTCACTACCACCATCACCACCAT CACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCCACCATCACCACCACCACCATCATGATCATCTCCACC ACCATCACCTCCACTACCATCACCTCCACCACCACCACCATCACTACCAC CATCACCTCGACTACCATCACCACCACCACCATCACCTTCACTACCACCA TCATTTCCATCATCGCCACCACCTCCTGTCACCATCACCCCCACCACCAC CATCACCATCACCTCTATCACCATCACCTCTACCAACACCATCACCACCA CCACCACCATCACCACCACCACCACCATAACCTCTACCATCACCACTACC ATCACCATCTCCACCCCCACCACCACTATCACCACCTCCACCCCCACCAT CACCACCACCACCATAACCTCTACCACCAGCACCTCCACCACCACCATCA CCATCACCACCTCCATCCCCACCACCACCCCCCACCACCATCACCACCAC CATCACCAGCACCACCACCACCATCACCT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(748): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCT CCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTC CCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCC ACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCTT CCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCC CTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCC TTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCC CCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCT CCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCC TTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCC CCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCC TCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCC CTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCT CCCCAC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0141 a0001c0009t0007g0141	1	278	0.0036	755	c.115 others(772): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCC CCTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCC TCCACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCT CTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTT CCCCTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCT CCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCA TCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCG CCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCT CCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCT CCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTC TCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCC TCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCC CCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(748): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCTCCCCTCCCCCCCTTCCCCTCCCCTCCCCTCC ACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCTT CCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCC CTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCC TTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCC CCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCT CCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCC TTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCC CCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCC TCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCC CTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCT CCCCAC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0166 a0001c0003t0001g0166	1	278	0.0036	755	c.115 others(772): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCCTTCCCCTCCCCTCCCC TCCACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCT CTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTT CCCCTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCT CCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCA TCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCG CCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCT CCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCT CCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTC TCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCC TCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCC CCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(748): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTTCCCTC CACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCA CCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCTTC CCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCC TCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCCT TCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCC CCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTC CCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCT TCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCC CCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCT CTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCCTCCCCTCC CTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCT CCCCAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0077 a0002c0005t0001g0077	1	278	0.0036	755	c.115 others(772): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTTCC CTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCT CCACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTC TTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTC CCCTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTC CCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCAT CCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGC CTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTC CCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTC CCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCT CCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCCTCCCC TCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCC CCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(748): Show GCCCTCCCGTCCCGTCCCCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCC CTTCCCCTCCCCTCCTCCCTCCCCTCCCCCTCCCCTCCTCCCTCCCCTCC CCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTC CCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCTTCCCCTCCCC TCCTCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCC TTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCACCCTCCCCTCCCC TCCCCTCCCCTTCCCCTCCCCTCCCCTCCACCCTCGCTTCCCCTCCCCTC CCCTCCTCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCT CCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCC TCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCT CCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCT CCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCC TCCCTTCCTCTCCCCTCCCCCCTCTCCTCCCCCTCCCTTCCCCTCCGCTT GCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCC CCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTC CCCTCC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0056 a0001c0008t0001g0056	1	278	0.0036	755	c.115 others(772): Show c.1157+145_1157+146insGTCCCGTCCCCCCCTCCCCTCCCCTCCC TTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCCCTCCCCT CCTCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCC TCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCT CCCTTCCCCTCCCCTCCTCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTC CCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCC ACCCTCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTCCACCCTCG CTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTTCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCTTCCC CTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCC CTCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTC CCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTC CCCTTCCCTCCCCCTCCCTTCCTCTCCCCTCCCCCCTCTCCTCCCCCTCC CTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCC CTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCC CCACTCCTCCTCTCCCCTCCCCCTCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MICAL3_chr22_17782649_18029561	17877369	G G	GGGAGGTT others(748): Show GGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGAGGTGAGGGAGG TTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGG AGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTT AGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAG TTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAAGTTATGGAGGTTATG GAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGT TATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTG AGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGA GATTAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	274	0.0037	755	c.224 others(774): Show c.2242-5347_2242-5346insATAATCTCCCTAACCTCCATAACTTC CCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCA CCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCC CTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCTCCATAAT CTCCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACTTCCC TCACCTCCATAATCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACC TCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTAACCTCCCT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCT CCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTA ACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTC CCTAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAA CCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCC CTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCTAACCT CCATAACCTCCCTAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICALL2_chr7_1429359_1464470	1446353	G G	GGAGTGAG others(748): Show GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGA AAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGA GGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGG CGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGG AGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGG AGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGA GGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGA GGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGG GAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGG GAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAG CAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGA AGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAG AGTGAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19074.hp1 NA19090.hp2 HG00558.hp2 NA19074.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0253 a0001c0002t0001g0014 a0001c0002t0001g0253	3	280	0.0107	755	c.641 others(770): Show c.641+359_641+360insTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTC TCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCC TTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTC TTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCC TCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCT CCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCA CTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCC TCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTC CTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTC CCCCTCCTCCCCCCTTCTCTCACTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MYRIP_chr3_39804609_40265321	40203791	A A	ATATAAAT others(748): Show ATATAAATATATATTATATATTTATATATAAATATTTATATATAAATATA TAATATATATTTATATATAAATATTTATATTTTATATATTTATATATTTT ATATATTAATATATAAATATTTATATTTTATATATTTATATATTTTATGA TTTTATAAAATATATAATTTATATAATAATTTTATAAATTATATAATTTA TATATTATATATAATATATTTATATTAAATATACATTTATATATTATATA TAATATATTTATATTAAATATATATTTATATATTATATATAATATATTTA TATTAAATATATTATATATAATATATTTATATTAAATATATTATATATAA TATATTTATATTAAATATTATATATTTATATATTATATATTTATATTAAA TATTATATATTTATGTTATATAATATATTTATATTAAATATTATATATTT ATATATTATATATAATATATTTATATTAAATGTTATATATTTATATATTA TATATAATATATTTATATTAAATGTTATATATTTATATATTATATATAAT ATATTTATATTAAATGTTATATATTTATATATTATATATAATATATTTAT ATTAAATATTATATATTTATATATTATATATAATATATTTATATTAAATA TTATATATTTATATATTATATATAATATATTTATATTAAATATTATATAT TTATATATTATATATATTTATATTGAATATTATATATTTATATATTATAT AAATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0168 a0002c0005t0004g0168	1	170	0.0059	755	c.166 others(774): Show c.1666-6060_1666-6059insAAATATATATTATATATTTATATATA AATATTTATATATAAATATATAATATATATTTATATATAAATATTTATAT TTTATATATTTATATATTTTATATATTAATATATAAATATTTATATTTTA TATATTTATATATTTTATGATTTTATAAAATATATAATTTATATAATAAT TTTATAAATTATATAATTTATATATTATATATAATATATTTATATTAAAT ATACATTTATATATTATATATAATATATTTATATTAAATATATATTTATA TATTATATATAATATATTTATATTAAATATATTATATATAATATATTTAT ATTAAATATATTATATATAATATATTTATATTAAATATTATATATTTATA TATTATATATTTATATTAAATATTATATATTTATGTTATATAATATATTT ATATTAAATATTATATATTTATATATTATATATAATATATTTATATTAAA TGTTATATATTTATATATTATATATAATATATTTATATTAAATGTTATAT ATTTATATATTATATATAATATATTTATATTAAATGTTATATATTTATAT ATTATATATAATATATTTATATTAAATATTATATATTTATATATTATATA TAATATATTTATATTAAATATTATATATTTATATATTATATATAATATAT TTATATTAAATATTATATATTTATATATTATATATATTTATATTGAATAT TATATATTTATATATTATATAAATATTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGAGGGG others(748): Show AAGAGGGGGAAGATGGAAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGA GGAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGG AAGACGGGAGGAGGAGTGGAAAGAGGGGGAAGATGGGAGAAGGAGAGGAA AGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGACGGGAA GAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGAAGGAGAGGAAAGAGGGG GAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGA GGAAAGAGGGGGAAGATGGGAGGAGGAGAGAAAAGAGGGGGAAGATGGGA GGGGGAGGAGAGGAAAGAGGGGGAAGACGGGAAGAGGAGAGGAAAGAGGG GGAAGATGGGAGGAGAAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAG GAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGGAAGACG GGAGGAGGAGAGGAAAGAGGGGGAAGACGGGAGAAGGAGAGGAAAGAGGG GGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAG AGGAAAGAGGGGGAAGATGGGAGGAGGAGAGAAAAGAGGGGGAAGATGGG AGGGGGAGGAGAGGAAAGAGGGGGAAGACGGGAAGAGGAGAGGAAAGGGG GAAGACGGGAGGAGGAGGACAGGAAAGAGGGGGAAGATGGGAGGAGAAGA GGAAAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	326	0.0031	755	c.162 others(774): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCCATCTTCCC CCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCCTCTCCTCTTCC CGTCTTCCCCCTCTTTCCTCTCCTCCCCCTCCCATCTTCCCCCTCTTTTC TCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCCATCTTCCCC CTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTC CCGTCTTCCCCCTCTTTCCTCTCCTCCTCCCGTCTTCCCCCCTTTCCTCT CCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCC CTCTTTCCTCTCCTTCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCTTC CCGTCTTCCCCCTCTTTCCTCTCCTCCCCCTCCCATCTTCCCCCTCTTTT CTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCCATCTTCCC CCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTTCT CCTCCCATCTTCCCCCTCTTTCCTCTCCTCTTCCCGTCTTCCCCCTCTTT CCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCCATCT TCCCCCTCTTTCCACTCCTCCTCCCGTCTTCCCCCCTTTCCTCTCCTCCT CCCATCTTCCCCCCTTTCCTCTTCTCCTCCTCCCATCTTCCCCCTCCTTC CTCTCCTCCCCTTTCCATCTTCCCCCTCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(748): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATA GATCTTTTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATAGATCT TTTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCGGATCTTTTCAGAATA GATCTATTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0167 a0001c0001t0005g0167	1	262	0.0038	755	c.129 others(772): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAATAGATCTATTCTGAAAAGATCCGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAAAAG ATCTATTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAAAAGATCTA TTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAAAAGATCTATTCTG AAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCG AAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCG AAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAGTAGATCCG AAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCG AAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCG AAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCG AAAAGATCTATTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PNPLA7_chr9_137454952_137555402	137502685	A A	AGGGGGAT others(748): Show AGGGGGATGTGGGAGATGAGGGGGACGCGGGGGACGGGGGGGACGCGGGG GACGGGGGGGACGCGGGGGACGGGGGGACGGGGGGGACGGGGGGGACGCG GGGGACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGG GACGCGGGGGGGACGCGGGGGGGACGCGGGGGGGGACGCGGGGGGGACGC GGGGGACGCGGGGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGAC GCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGGACGCG GGGGGACGCGGGGGACGGGGGGGGACGGGGGGGGACGCGGGGGGGACGCG GGGGACGGGGGGGACGCGGGGGGGACGCGGGGGACGGGGGGGACGGGGGG GACGGGGGGGGCGCGGGGGACGGGGGGGGCGGGGGGGGACGGGGGGGACA CGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGGGACGCGGGGGACGG GGGGGACGCGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGGGACGCG GGGGACGGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGGACGCGGGGGA CGGGGGGGACGGGGGGGGACGGGGGGGGCGCGGGGGACGGGGGGGGCGGG GGGGGCGGGGGGGGCGGGGGGGACGCGGGGGGGACGCGGGGGGACGCGGG GGGGACGCGGGGGACGGGGGGGACGCGGGGGGACGCGGGGGGGACGCGGG GGACGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	188	0.0053	755	c.147 others(772): Show c.1474-959_1474-958insCCGTCCCCCGCGTCCCCCCCGCGTCCCC CCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCCGCGTCCCCC CCGCGTCCCCCCCGCCCCCCCCGCCCCCCCCGCCCCCCCCGTCCCCCGCG CCCCCCCCGTCCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCC CCCCGCCCCCCCCGCCCCCCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCC CGTCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGC GTCCCCCCCGTCCCCCGCGTCCCCCCCGTGTCCCCCCCGTCCCCCCCCGC CCCCCCCGTCCCCCGCGCCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCC GCGTCCCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCC CCGTCCCCCCCCGTCCCCCGCGTCCCCCCGCGTCCCCCCCGCGTCCCCCC CGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGCGT CCCCCCCGCGTCCCCCCCCGCGTCCCCCGCGTCCCCCCCGCGTCCCCCCC CGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCC CCGCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCG TCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCC GCGTCCCCCTCATCTCCCACATCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(748): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CCTTTCTCCCCTTCTCACCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTT CCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCC CTTCTCTCCTCCCGTCTTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCT TCCTCC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	312	0.0032	755	c.306 others(774): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCACCTCCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCC TCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTC CTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCC TTTCTCCCCTTCTCTCCTCCCGTCTTTCTCTCCTCCCCTCTTTCTCTCCT CCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCCTTCCTCCCCTTCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(748): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTT CCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCC CTTCTCTCCTCCCGTCTTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCT TCCTCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18960.hp2 HG00558.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0124 a0001c0001t0001g0125	2	312	0.0064	755	c.306 others(774): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCC TCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTC CTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCC TTTCTCCCCTTCTCTCCTCCCGTCTTTCTCTCCTCCCCTCTTTCTCTCCT CCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCCTTCCTCCCCTTCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTPRT_chr20_42067756_43194906	43068103	G G	GGAGGGAG others(748): Show GGAGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGG AGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAG GAAGGGGAGGGAGGGGAGGAAGGAAGGACAGAGAGGAGGGAAGGAAGGAA GGGCAGAGACGAGGGAAGGAAGGAAGGGCAGAGAGGAGGGAAGGAAGGGG TGAGAGGAGGGAAGGAAGGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAG GGAAGGAAGGGGGGAGAGGAGAGAAGGAAGGGGGAGAGGAGGGAAGGAAG GGGGAGAGGAGGGAAGGAAGGGGGGAGAGGAGGGAAGGAAGGGGGGAGAG GAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGA AGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGGAAAAGAAGGGGGAGAG GAGGAAAGGAAGGTGGGAGAGGAGGAAAGGAAGGGGGAGAGGAGGAAAGG AAGGGGGGAGAGGAGGAAAGGAAGGGGGGAGAGGAGGAAAGGAAGGGGGA GAGGGAGGGAGGAAGGGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGC AAGCAAGCAAGCAAAGCTGCTCAGAAGCTAACTTCAGGAAGAAGGGAGGG AAGCTAACTTCAGAAGCTAACTTCAGGAGGGAGGGAAGGAAGGAAGGGAA GAAGGAGGGAAGGGAGGTAGGAAGGAGGGAGGGAAGGGAGGAAGGGAGGA GGGAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp1 HG03540.hp2 others(1): Show HG02809.hp2 HG02896.hp1 HG03540.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0009 a0002c0011 others(1): Show a0001c0007 a0002c0009 a0002c0011 a0002c0014	a0001c0007t0001 a0002c0009t0001 a0002c0011t0006 others(1): Show a0001c0007t0001 a0002c0009t0001 a0002c0011t0006 a0002c0014t0007	a0001c0007t0001g0061 a0002c0009t0001g0018 a0002c0011t0006g0003 others(1): Show a0001c0007t0001g0061 a0002c0009t0001g0018 a0002c0011t0006g0003 a0002c0014t0007g0004	4	62	0.0645	755	c.88+ others(774): Show c.88+121542_88+121543insTTTCCCTCCTCCCTTCCTCCCTTCCC TCCCTCCTTCCTACCTCCCTTCCCTCCTTCTTCCCTTCCTTCCTTCCCTC CCTCCTGAAGTTAGCTTCTGAAGTTAGCTTCCCTCCCTTCTTCCTGAAGT TAGCTTCTGAGCAGCTTTGCTTGCTTGCTTGCTTCCTTCCTTCCTTCCTC CCTCCCTCCCTCCCCCTTCCTCCCTCCCTCTCCCCCTTCCTTTCCTCCTC TCCCCCCTTCCTTTCCTCCTCTCCCCCCTTCCTTTCCTCCTCTCCCCCTT CCTTTCCTCCTCTCCCACCTTCCTTTCCTCCTCTCCCCCTTCTTTTCCTC CTCTCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCT TCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCCTTCCTTCCCT CCTCTCCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCC CTTCCTTCTCTCCTCTCCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCC CTCCTCTCCCCCCTTCCTTCCCTCCTCTCACCCCTTCCTTCCCTCCTCTC TGCCCTTCCTTCCTTCCCTCGTCTCTGCCCTTCCTTCCTTCCCTCCTCTC TGTCCTTCCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCCCTCCCTCCCCT TCCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCCCTCCCTCCCCTTCCTTC CTCCCCTCCCTCCCCTTCCTTCCTCCCTC	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PWWP2B_chr10_132392200_132422859	132392582	A A	ATGATGGT others(748): Show ATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGT GATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGT GATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGA TGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTG ATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGAT GGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGT GATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGG TGGTGATGGTGGTGGTAATGGTGATGGTGATGAGGTGATGGTGATGATGG TGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA TGGTGATGATGGTGATGGTGATGGTGGTGGTGGTTGATAATGGTGATGGT GATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGG TGATGGTGATGGTAGTGGTGATGGGGGGGTGGTCGGTAATGATGATGGTG ATGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	374	0.0027	755	c.-46 others(766): Show c.-4645_-4644insTGATGGTGGTGGTGGTGATAATGGTGATGGTGGT GGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGT GATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGA TGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTG GTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTG ATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGAT GATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGG TGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGT GGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGTGGTGGTGG TGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGGTGATGAGG TGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGA TGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTT GATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGGGTGGTCG GTAATGATGATGGTGATGGTG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4617		chr10	TogoVar
RANBP10_chr16_67718070_67811560	67809198	G G	GGTGGCTC others(748): Show GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGA TCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAAAAAAATTAGCCGGCCGTGGTGGCGGGTGCC TATAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCG GGAGGCAGAGCTTGCAGTGAGCCAAGATCTCGCCACTGCACTCCAGTCTG GGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAGCACAGCCAGGCACGG TGGCTCACCCCTATAATCCTATTACTTTGGGAGGCCAAGGCAGGCAGATT GCCTGAGCTCAGGAGTTCGAGACCAGGCTAGACAATATGGCAAAAACCCT GTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCAAGCAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCAAAAAAAACCCTGTTTCTAATAGCAATACAAAATATTGGCCA GGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01433.hp2 HG01891.hp2 others(30): Show HG01109.hp2 HG01433.hp2 HG01891.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0004t0003 a0002c0002t0003	a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0003g0052 others(30): Show a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0089 a0001c0001t0004g0072 a0001c0001t0004g0080 a0001c0001t0008g0049 a0001c0004t0003g0060 a0002c0002t0003g0001 a0002c0002t0003g0002	33	152	0.2171	755	c.-26 others(766): Show c.-2663_-2662insTGTGCCTGGCCAATATTTTGTATTGCTATTAGAA ACAGGGTTTTTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGACTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAGAAACAGGGTTTTTGCCATATTGTCTAGCCTGG TCTCGAACTCCTGAGCTCAGGCAATCTGCCTGCCTTGGCCTCCCAAAGTA ATAGGATTATAGGGGTGAGCCACCGTGCCTGGCTGTGCTTTTTTTTTTGA GATGGAGTCTCGCTCTGTCACCCAGACTGGAGTGCAGTGGCGAGATCTTG GCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGAGACTATAGGCACCCGCCACCACGGCCGGCTAATTT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGG CCTCGATCTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCAC	RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding		2639		chr16	TogoVar
RANBP10_chr16_67718070_67811560	67809198	G G	GGTGGCTC others(748): Show GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGA TCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAAAAAAATTAGCCGGCCGTGGTGGCGGGTGCC TATAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCG GGAGGCGGAGCTTGCAGTGAGCCAAGATCTCGCCACTGCACTCCAGTCTG GGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAGCACAGCCAGGCACGG TGGCTCACCCCTATAATCCTATTACTTTGGGAGGCCAAGGCAGGCAGATT GCCTGAGCTCAGGAGTTCGAGACCAGGCTAGACAATATGGCAAAAACCCT GTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCAAGCAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCAAAAAAAACCCTGTTTCTAATAGCAATACAAAATATTGGCCA GGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG01071.hp2 others(2): Show HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01346.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0003g0088 a0001c0001t0005g0083 a0001c0001t0005g0087 others(2): Show a0001c0001t0003g0088 a0001c0001t0005g0083 a0001c0001t0005g0087 a0001c0001t0006g0085 a0001c0001t0006g0086	5	152	0.0329	755	c.-26 others(766): Show c.-2663_-2662insTGTGCCTGGCCAATATTTTGTATTGCTATTAGAA ACAGGGTTTTTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGACTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAGAAACAGGGTTTTTGCCATATTGTCTAGCCTGG TCTCGAACTCCTGAGCTCAGGCAATCTGCCTGCCTTGGCCTCCCAAAGTA ATAGGATTATAGGGGTGAGCCACCGTGCCTGGCTGTGCTTTTTTTTTTGA GATGGAGTCTCGCTCTGTCACCCAGACTGGAGTGCAGTGGCGAGATCTTG GCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGAGACTATAGGCACCCGCCACCACGGCCGGCTAATTT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGG CCTCGATCTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCAC	RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding		2639		chr16	TogoVar
SCARA5_chr8_27864883_27997673	27918986	G G	GAGAAGGA others(748): Show GAGAAGGAGGAGGAGAAAGAGGAGGAGGAGGAAGAGGAGGAAGAGGAGAA AGAGGAGGAAAAGAAGGAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAA GGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAGAAGAAAGGGGAGA AAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGGAGG AGAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACAGGAGGAGGAGAAGG AGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAG GAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGG AGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAAGAA GAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGA GGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGGAGAGGG AAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGAAAAAGAGG AGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAGGAG GAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAATGG GAGGAGGAGGAGAGAATAGAGGAGGAGGGAATAGAGGAGGAGGAGAGAAG GGAGGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG03704.hp2 others(2): Show HG01515.hp2 HG01517.hp1 HG03704.hp2 NA18957.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0014 a0001c0003t0015 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0003t0015 a0001c0009t0003	a0001c0001t0001g0170 a0001c0001t0001g0207 a0001c0001t0014g0208 others(2): Show a0001c0001t0001g0170 a0001c0001t0001g0207 a0001c0001t0014g0208 a0001c0003t0015g0085 a0001c0009t0003g0298	5	314	0.0159	755	c.916 others(772): Show c.916+2584_916+2585insTCCTCCCTTCTCTCCTCCTCCTCTATTC CCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCCTCCTTCTCCTCC TTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTGCTTTTCC TCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTCTCCTCCTCCTCC TCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTCTTCCCTTTCTTC CTTATCCTCTTCTTTCCCCTCCTCCTCCTCTTTCTCCTCTTCCTCCTTCT CTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTCTCCTCCTCTTCT TTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTCCTCCCTTCTCTC CTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTC TCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTCCTTCTCCTTCCCCTCC TCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTGTTCCTC CTTCTCCTTTTCCTCCTCCTTCCCCTCTCCTCCTCCTTTTCTCTTCCTCC TCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCTCCTCCTC CTTCCCCTCCTCCTCCTTTTCCTCCTCCTTCCCCTCCTCCTCCTTTTCTC TTCCTCCTCCTCCTTCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCT CCTCCTCCTCTTTCTCCTCCTCCTTCT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SEMA5A_chr5_9030033_9551075	9426431	A A	AATAAATA others(748): Show AATAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0040 a0001c0002t0045g0040	1	134	0.0075	755	c.-78 others(774): Show c.-78+11324_-78+11325insATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTATTTTATTTTATTTTATTTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SHOX_chrX_625791_656584	626585	G G	GTCTATCT others(748): Show GTCTATCTCTGTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTG TATCTCTATCTCTGTCTCTCTTTCTCTCTGTCTTCGTTCCTCTCTCTCTT TTTCTCTTTCTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCT CTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCT CTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTATCTCTGTCTATCTCTG TCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTCTATCT CTGTCTCTCTTTCTCTCTGTCTTCGTTCCTCTCTCTCTTTTTCTCTTTCT CTGTATCTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTGTCTC TTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTCTCTCCTCT CTTTTTCTCTGTCTCTGTCTGTATCTCTGGCTATCTCTGTCTCTCTCTCT CCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTCTATCTCTGTCTCTCTT TCTCTCTGTCTTTGTTCCTCTCTTTTTTCTCTTTCTCTGTATCTCTGTCT ATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTGTCTCTTTTTCTCTG TCTCTCTCTGTGTCTCTACCTCTGTCTCTCTTTCTCTCCTCTCTTTTTCT CTGTCTCTGTCTGTATCTCTGTCTGTCTCTGTCTCTCTCTCTCCTCTCTC TGTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0097 a0002c0002t0097	a0002c0002t0097g0194 a0002c0002t0097g0194	1	220	0.0046	755	c.-43 others(766): Show c.-4313_-4312insTCTATCTCTGTCTCTCTCTCTCCTCTCTCTCTTT CTCTGTCTCTGTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTGTCTTC GTTCCTCTCTCTCTTTTTCTCTTTCTCTGTATCTCTATCTCTGTCTCTCT TTCTCTCTCTCCTCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTC TCTACCTCTGTCTCTCTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTAT CTCTGTCTATCTCTGTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCTG TCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTGTCTTCGTTCCTCTCTC TCTTTTTCTCTTTCTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTCTC CTCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGT CTCTCTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTATCTCTGGCTATC TCTGTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTCT ATCTCTGTCTCTCTTTCTCTCTGTCTTTGTTCCTCTCTTTTTTCTCTTTC TCTGTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCT GTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTTTCT CTCCTCTCTTTTTCTCTGTCTCTGTCTGTATCTCTGTCTGTCTCTGTCTC TCTCTCTCCTCTCTCTGTATC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4205		chrX	TogoVar
SLC12A7_chr5_1045384_1117063	1082000	G G	GGGCTTCC others(748): Show GGGCTTCCCGTCTCGGGTTCTGGAAAGTCCAGGCTTCCCGTCTCGGGTTC TGGAAAGCCTGGGCTTCCTCTCTAGGGTTCTGGAAAGTCCGGGCTTCCCC GTCTCGGGTTCTGGGGAAGTCCGGGCTTCCCGTCTCAGGTTCTGGAAAGT CCGGGCTTCCCGTCTCGGGTTCTGGAAAGTCCGGGCTTCCTCTCTAGGGT TCTGGAAAGCCTGGGCTTCCTCTCTAGGGTTCTGGAAAGTCCGGGCTTCC CCGTCTCGGGTTCTGGAAAGCCTGGGCTTCCTCTCTAGGGTTCTGGAAAG TCCGGGCTTCCCGTCTCGGGTTCTGGAAAGCCTGGGCTTCCTCTCTAGGG TTCTGGAAAGTCCGGGCTTCCCGTCTCGGGTTCTGGAAAGCCTGGGCTTC CCATCTCAGGTTCTGGAAAGTCCAGGCTTCCCGTCTTGGGTTCTGGAAAG CCTGGGCTTCCCATCTTGGGTTCTGGAAAGCCTGGGCTTCCTCTCTAGGG TTCTGGAAAGTCCGGGCTTCCCCGTCTCGGGTTCTGGGGAAGTCCGGGCT TCCCGTCTCAGGTTCTGGAAAGTCCGGGCTTCCCGTCTCGGGTTCTGGAA AGTCCGGGCTTCCTCTCTAGGGTTCTGGAAAACCTGGGCTTCCCGTCTCA GGTTCTGGAAAGTCCAGGCTTCCTGTCTTGGGTTCTGGAAAGCCTGGGCT TCCTCTCTAGGGTTCTGGAAAGTCCAGGCTTCCCGTCTCGGGTTCTGGAA AGTCCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0002 a0001c0029t0002	a0001c0029t0002g0107 a0001c0029t0002g0107	1	118	0.0085	755	c.113 others(772): Show c.1130-257_1130-256insTGGACTTTCCAGAACCCGAGACGGGAAG CCTGGACTTTCCAGAACCCTAGAGAGGAAGCCCAGGCTTTCCAGAACCCA AGACAGGAAGCCTGGACTTTCCAGAACCTGAGACGGGAAGCCCAGGTTTT CCAGAACCCTAGAGAGGAAGCCCGGACTTTCCAGAACCCGAGACGGGAAG CCCGGACTTTCCAGAACCTGAGACGGGAAGCCCGGACTTCCCCAGAACCC GAGACGGGGAAGCCCGGACTTTCCAGAACCCTAGAGAGGAAGCCCAGGCT TTCCAGAACCCAAGATGGGAAGCCCAGGCTTTCCAGAACCCAAGACGGGA AGCCTGGACTTTCCAGAACCTGAGATGGGAAGCCCAGGCTTTCCAGAACC CGAGACGGGAAGCCCGGACTTTCCAGAACCCTAGAGAGGAAGCCCAGGCT TTCCAGAACCCGAGACGGGAAGCCCGGACTTTCCAGAACCCTAGAGAGGA AGCCCAGGCTTTCCAGAACCCGAGACGGGGAAGCCCGGACTTTCCAGAAC CCTAGAGAGGAAGCCCAGGCTTTCCAGAACCCTAGAGAGGAAGCCCGGAC TTTCCAGAACCCGAGACGGGAAGCCCGGACTTTCCAGAACCTGAGACGGG AAGCCCGGACTTCCCCAGAACCCGAGACGGGGAAGCCCGGACTTTCCAGA ACCCTAGAGAGGAAGCCCAGGCTTTCCAGAACCCGAGACGGGAAGCCTGG ACTTTCCAGAACCCGAGACGGGAAGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	8/23			chr5	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(748): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATATAA ATATAAATATATTATATATTATATAAATATAAATATATTATATATAATAT ATAATATAAATATATTATATATAATATATAATATAAATATATTATATATA ATATATATAATATATATATTATATATAATATATATAATATATATATTATA TATATTATATATATTATATATAATATAAATATATTATATATAATATATAT AATATAAATATATTATATATAATATATATAATATAAATATATTATATATA TTATATATAATATAAATATATTATATATATTATATATAATATAAATATAT TATATATATTATATATAATATAAATATATTATATATATTATATATAATAT AAATATATTATATATATTATATATAATATAAATATATTATATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATATAATATAAATATATTATATATATTATATATAATATAAATA TATTATATATATTATATATAATATAAATATATTATATATATTATATATAA TATAAATATATTATATATATTATATATAATATAAATATATTATATATATT ATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0190 a0001c0001t0008g0190	1	346	0.0029	755	c.-70 others(772): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATAATATATATAATATATTTATATTATATATAAT ATATATAATATATTTATATTATATATAATATATATAATATATTTATATTA TATATATTATATATAATATATTTATATTATATATATTATATATAATATAT TTATATTATATATAATATATATAATATATATAATATATATATTATATATA TTATATATAATATATATATTATATATATTATATATAATATATTTATATTA TATATTATATATAATATATTTATATTATATATTATATATAATATATTTAT ATTTATATAATATATAATATATTTATATTTATATATAATATATAATATAT TTATATTTATATATAATATATATAATATATTTATATTTATGTATAATATA TATAATATATTTATATTTATGTATAATATATATAATATATTTATATTTAT GTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SMIM36_chr17_55444856_55516452	55501123	T T	TTTATATT others(748): Show TTTATATTATAATATATAATATATATTATATATTATAATATATAATATAT ATTATATATTATAATATATAATATATTATATATTATAATATATAATATAT TATATATTATAATATATAATATATTATATATTATAATATATAATATATTA TATATTATAATATATAATATATTATATTTTATAATATATAATATATTATA TTTTATAATATATAATATATTATATTTTATAATATATAATATATTATATT TTATAATATATAATATATTATATTTTATAATATATAATATATTATATTTT ATAATATATAATATATATTACATATTATAATATATAATATATTATATTTT ATAATATATAATATATTATATTTTATAATATATAAAAAATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATAATATATAATATATTTTATAATATATATTATATTTTATAATATAT AATATATTTTATAATATATAATATATTATATTTTATAATATATAATATAT TATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTA TATTTTATAATATATAATATATTATATTTTATAATATATAATATATATTA TATTTTATAATATATAATATATATTATATTTTATAATATAGAATATATAT TATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	340	0.0029	755	c.17 others(774): Show c.174+9755_*174+9756insTATATAATATATATTCTATATTATAA AATATAATATATATTATATATTATAAAATATAATATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATATTATATATTATAAAATATAATA TATATTATAAAATATATTATATATTATAAAATATAATATATTATATATTA TAAAATATAATATATTATATATTATAAAATATAATATATTATATATTATA AAATATAATATATTATATATTATAAAATATAATATATTATATTTTTTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATA TTATAATATGTAATATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATTATATATT ATAAAATATAATATATTATATATTATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAATATATAATATATTATATATTATAA TATATAATATATTATATATTATAATATATAATATATTATATATTATAATA TATAATATATTATATATTATAATATATAATATATATTATATATTATAATA TATAATATATATTATATATTATAATATAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
TDRD5_chr1_179586832_179696272	179681961	G G	GACAGAGT others(748): Show GACAGAGTCTCACTCTGTTGCCCAAGCTGGAGTGCAGTGGTGCAATTTCG GCTCACTGCAACCTCCGCCTCCCAAGTTCAAGCGATTCTCCCACCTCAGC CTCCCGAGTAGCTGAGATTACAGGCATGTGCCACTACGTCCAGCTAATTT TTTAAGTTTTTGGTAGAGACAGGGTTTCACCACCTTGGCTAGGCTGGTCT GGAACTCCTGACCTCAGGTGATCCGCCCACCTCTGCCTCCCAAAAGTGCT GGGATTACAGGCGTGAGCCATGGCACCTGGCCCAGTGTGTTTTTCTTCTC TAGAGGTTTGACTTGGGTCTTTTTTATATCTTCCATTTTTTTCCACATTA TAGTCAGGTTTTTCTACCTGACTATAAAGAGTGTTTAAAGAGCACTTTAT TCAAGAAGGTAGAAAAACCTGACTATAATGTGGAAAAAAATGGAGATATA AAAAAGACCCAAGTCAAACCTCTAGAGAAGAAAAACACACTGGGCCAGGT GCCATGGCTCACGCCTGTAATCCCAGCACTTTTGGGAGGCAGAGGTGGGC GGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTAGCCAAGGTGGTGAAA CCCTGTCTCTACCAAAAATTTAAAAAATTAGCTGGACGTAGTGGCACATG CCTGTAATCTCAGCTACTCGGGAGGCTGAGGTGGGAGAATCGCTTGAACT TGGGAGGCGGAGGTTGCAGTGAGCCGAAATTGCACCACTGCACTCCAGCT TGGGCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG01884.hp2 HG02486.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0369 a0009c0014t0001g0370 a0009c0014t0001g0369 a0009c0014t0001g0370	2	382	0.0052	755	c.286 others(774): Show c.2861-8728_2861-8727insCTCACTCTGTTGCCCAAGCTGGAGTG CAGTGGTGCAATTTCGGCTCACTGCAACCTCCGCCTCCCAAGTTCAAGCG ATTCTCCCACCTCAGCCTCCCGAGTAGCTGAGATTACAGGCATGTGCCAC TACGTCCAGCTAATTTTTTAAGTTTTTGGTAGAGACAGGGTTTCACCACC TTGGCTAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCACCTCT GCCTCCCAAAAGTGCTGGGATTACAGGCGTGAGCCATGGCACCTGGCCCA GTGTGTTTTTCTTCTCTAGAGGTTTGACTTGGGTCTTTTTTATATCTTCC ATTTTTTTCCACATTATAGTCAGGTTTTTCTACCTGACTATAAAGAGTGT TTAAAGAGCACTTTATTCAAGAAGGTAGAAAAACCTGACTATAATGTGGA AAAAAATGGAGATATAAAAAAGACCCAAGTCAAACCTCTAGAGAAGAAAA ACACACTGGGCCAGGTGCCATGGCTCACGCCTGTAATCCCAGCACTTTTG GGAGGCAGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCT AGCCAAGGTGGTGAAACCCTGTCTCTACCAAAAATTTAAAAAATTAGCTG GACGTAGTGGCACATGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGTGG GAGAATCGCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCCGAAATTGCA CCACTGCACTCCAGCTTGGGCAACAGAGT	TDRD5	ENSG00000162782.16	transcript	ENST00000444136.6	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
TERT_chr5_1248167_1300068	1273782	C C	CACGACCG others(748): Show CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG ACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCAT CCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATC AGACCCCACGACTGCCATCCACAGTCACCACACATCAGACCCCTGTGACC GATCACCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACA CATCAGACCCCACGACTGCCATCCACAGTCACCACACATCAGACCCCTGT GACCGATCACCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCAC CACACA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	392	0.0026	755	c.228 others(774): Show c.2287-1503_2287-1502insTGTGTGGTGACTGTGGATGGTGATCG GTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGT GACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTG ATCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTG TGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(748): Show CTATTATATATATAATATACCTATTATATATATAATATACCTATTATATA TAATATACCTATTATATATAAAATATACCTATTATATATAATATACCTAT TATATGCATTATATATAATATACCTATTATATGCATTATATATAATATAC CTATTATATGCATTATATATAATATACCTATTATATGCATTATATAATAT ATTATATATAATATGCATATTATATGTATTATATATTATATATTATATAT ATAATATACATATTATATGTATTATATATTATATATTATATATAATATAC ATATTATATGTATTATATATTATATATAATATACATATATATTATATATT ATATACATATTATATATTATATACATATTATATATTATATACATATTATA TATTATATATTATATACATATTATACATTATATATATCTAAAATATATAA TACACATTATATATTATATAATACACATTATATATTATATATAATACACA TTATATATTATATATAATACACATTATATATTATATATAATACACATTAT ATATTATATATAATACACATTATATATTATATAATACACATTATATATTA TATATAATACACATTATATATTATATATAATACACATTATATATTATATA TAATATACATTATATATTATATAATACACATTATATATTATATATAATAC ACATTATATATATAATACACATTATATATTATATATAATACATAATACAC ATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0269 a0001c0002t0002g0269	1	360	0.0028	755	c.62 others(766): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTATATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGT ATTATATAATATATAATGTGTATTATATATTTTAGATATATATAATGTAT AATATGTATATAATATATAATATATAATATGTATATAATATATAATATGT ATATAATATATAATATGTATATAATATATAATATATATGTATATTATATA TAATATATAATACATATAATATGTATATTATATATAATATATAATATATA ATACATATAATATGTATATTATATATATAATATATAATATATAATACATA TAATATGCATATTATATATAATATATTATATAATGCATATAATAGGTATA TTATATATAATGCATATAATAGGTATATTATATATAATGCATATAATAGG TATATTATATATAATGCATATAATAGGTATATTATATATAATAGGTATAT TTTATATATAATAGGTATATTATATATAATAGGTATATTATATATATAAT AGGTATATTATATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
THEG_chr19_356747_381026	377008	C C	CCCCCACC others(748): Show CCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTC TGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCC CCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGC CTCTCCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCCCTGT GCCCCACCCAGCCTCTCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	370	0.0027	755	c.-10 others(766): Show c.-1039_-1038insCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGGCACA GGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCA CAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGG CACAGAGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGG GTGGGGCACGGGGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGA GGCTGGGTGGGGCACGGGGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGAGGCACGG GGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		983		chr19	TogoVar
TH_chr11_2158929_2176815	2161903	A A	ACACCCCT others(748): Show ACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCG GGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCG GGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCC TGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCC TGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCC GGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCAGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCA GACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCA GGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0056 a0001c0013t0001g0056	1	388	0.0026	755	c.23 others(766): Show c.2329_*2330insCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCCCGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTC TGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCC CGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC CGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGAC AGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACA GGGGTCCCGGGGACAGGGGTG	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2025		chr11	TogoVar
TSNAXIP1_chr16_67801889_67833068	67809198	G G	GGTGGCTC others(748): Show GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGA TCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAAAAAAATTAGCCGGCCGTGGTGGCGGGTGCC TATAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCG GGAGGCAGAGCTTGCAGTGAGCCAAGATCTCGCCACTGCACTCCAGTCTG GGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAGCACAGCCAGGCACGG TGGCTCACCCCTATAATCCTATTACTTTGGGAGGCCAAGGCAGGCAGATT GCCTGAGCTCAGGAGTTCGAGACCAGGCTAGACAATATGGCAAAAACCCT GTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCAAGCAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCAAAAAAAACCCTGTTTCTAATAGCAATACAAAATATTGGCCA GGCACA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01433.hp1 HG01884.hp1 others(31): Show HG01109.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02647.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0007t0001 a0003c0004t0002	a0001c0001t0001g0011 a0001c0001t0001g0049 a0001c0001t0001g0050 others(27): Show a0001c0001t0001g0011 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0002g0009 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0003g0062 a0001c0002t0001g0012 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0007t0001g0092 a0003c0004t0002g0014	34	256	0.1328	755	c.47+ others(770): Show c.47+2045_47+2046insGGTGGATCACGAGGTCAGGAGATCGAGGCC ATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA ATTAGCCGGCCGTGGTGGCGGGTGCCTATAGTCTCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCA AGATCTCGCCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTC AAAAAAAAAAGCACAGCCAGGCACGGTGGCTCACCCCTATAATCCTATTA CTTTGGGAGGCCAAGGCAGGCAGATTGCCTGAGCTCAGGAGTTCGAGACC AGGCTAGACAATATGGCAAAAACCCTGTTTCTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGTCTCCCAAGCAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAAAAAACCCTGTTT CTAATAGCAATACAAAATATTGGCCAGGCACAGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGGTG	TSNAXIP1	ENSG00000102904.15	transcript	ENST00000561639.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
TSNAXIP1_chr16_67801889_67833068	67809198	G G	GGTGGCTC others(748): Show GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGA TCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAAAAAAATTAGCCGGCCGTGGTGGCGGGTGCC TATAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCG GGAGGCGGAGCTTGCAGTGAGCCAAGATCTCGCCACTGCACTCCAGTCTG GGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAGCACAGCCAGGCACGG TGGCTCACCCCTATAATCCTATTACTTTGGGAGGCCAAGGCAGGCAGATT GCCTGAGCTCAGGAGTTCGAGACCAGGCTAGACAATATGGCAAAAACCCT GTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCAAGCAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCAAAAAAAACCCTGTTTCTAATAGCAATACAAAATATTGGCCA GGCACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01071.hp2 others(2): Show HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01346.hp2 NA20752.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0005t0001 a0002c0003t0001 a0002c0005t0001	a0002c0003t0001g0013 a0002c0003t0001g0097 a0002c0005t0001g0096 others(1): Show a0002c0003t0001g0013 a0002c0003t0001g0097 a0002c0005t0001g0096 a0002c0005t0001g0098	5	256	0.0195	755	c.47+ others(770): Show c.47+2045_47+2046insGGTGGATCACGAGGTCAGGAGATCGAGGCC ATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA ATTAGCCGGCCGTGGTGGCGGGTGCCTATAGTCTCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCA AGATCTCGCCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTCCATCTC AAAAAAAAAAGCACAGCCAGGCACGGTGGCTCACCCCTATAATCCTATTA CTTTGGGAGGCCAAGGCAGGCAGATTGCCTGAGCTCAGGAGTTCGAGACC AGGCTAGACAATATGGCAAAAACCCTGTTTCTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGTCTCCCAAGCAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAAAAAACCCTGTTT CTAATAGCAATACAAAATATTGGCCAGGCACAGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGGTG	TSNAXIP1	ENSG00000102904.15	transcript	ENST00000561639.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
TWIST2_chr2_238843085_238915534	238870169	A A	ACACAAAC others(748): Show ACACAAACCACACACCCTACACACCCCACACACACCACACACCACACACA CACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACA CACCACACCCCACACACACCACACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACAAACCACACACCCTACACACCCCACA CACACCACACACCACACACACCACACACCCCACACACACCACACACCCCA CACACACCACACACCCCACACACACCACACACCCCACACACACCACACAC ACCACACACCCCACACACCCCACACACACCACACACCCTACACACCCCAC ACACACCACACCCCACACACACCACACCCCATACACACCACACACACCAC ACACACCACACACCCCACACACACCACACAAACCACACACCCTACACACC CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACA CACCACACACCCCACACACACCACACACCCTACACACCCCATACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACACAACACACCCCACACACACCACACAAACCACATAC CACACACCCCACACACACCACACACCCCACACACACCACACCCCATACAC ACCACACACCCCACACACACCACACAAACCACACACCCTACACACCCCAC ACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	338	0.0030	755	c.35 others(774): Show c.35+21440_*35+21441insAACCACACACCCTACACACCCCACAC ACACCACACACCACACACACACCACACCCCATACACACCACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACAAACCAC ACACCCTACACACCCCACACACACCACACACCACACACACCACACACCCC ACACACACCACACACCCCACACACACCACACACCCCACACACACCACACA CCCCACACACACCACACACACCACACACCCCACACACCCCACACACACCA CACACCCTACACACCCCACACACACCACACCCCACACACACCACACCCCA TACACACCACACACACCACACACACCACACACCCCACACACACCACACAA ACCACACACCCTACACACCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACCACACACACCACACACCCCACACACACCACACACCCT ACACACCCCATACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACAACACACCCCACACA CACCACACAAACCACATACCACACACCCCACACACACCACACACCCCACA CACACCACACCCCATACACACCACACACCCCACACACACCACACAAACCA CACACCCTACACACCCCACACACACCACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870237	C C	CCCTACAC others(748): Show CCCTACACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACACCCCACACACACCACCCCCCACACACACCACACACCACA CACCCTACACACCCCACACACACCACACACCACACACACCCCACACACAC CCACACCCCACACACACCACACACCCCCCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACCCCATACCACCACACACCCCACACA CACCACACACCCCACACACACCACACCCCATACACACCACACCCCCCACA CACCACACACCCCACACACACCACACCCCACACACACCACACACACACCA CACCCCACACACACCACACACCCCCCCCACACACCACACCCCATACACCA CCACACCCCACACACACCACACCCCACACACACCACACACCCCACACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACCCATACACACCCACCCCCATACACACCA CACCCCACACACACCACACACCCCACACACCACCACACACCCCACACACA CCACACCCCACACACACCACACAACCACACACCCTACACCCCCACACACA CCACACACCACACACACCCCACACACACCACACCCCACACACACCACACA CCCCCCACACACACCACACCCCATACACACCACACCCCACACACACCACA CCCCAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	338	0.0030	755	c.35 others(774): Show c.35+21504_*35+21505insCCTACACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACACCCCACACACACCACC CCCCACACACACCACACACCACACACCCTACACACCCCACACACACCACA CACCACACACACCCCACACACACCCACACCCCACACACACCACACACCCC CCCACACACACCACACCCCATACACACCACACCCCACACACACCACACCC CATACCACCACACACCCCACACACACCACACACCCCACACACACCACACC CCATACACACCACACCCCCCACACACCACACACCCCACACACACCACACC CCACACACACCACACACACACCACACCCCACACACACCACACACCCCCCC CACACACCACACCCCATACACCACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACACCCCACACACACCACACCCC ACACACACCACACCCCATACACACCACACCCCACACACACCACACCCATA CACACCCACCCCCATACACACCACACCCCACACACACCACACACCCCACA CACCACCACACACCCCACACACACCACACCCCACACACACCACACAACCA CACACCCTACACCCCCACACACACCACACACCACACACACCCCACACACA CCACACCCCACACACACCACACACCCCCCACACACACCACACCCCATACA CACCACACCCCACACACACCACACCCCAT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
VCX3A_chrX_6528618_6540118	6532851	C C	CCCTCCCT others(748): Show CCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACA CCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTC CCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCAC ACACCACCTCTTCCTCCTCCCCTCCCTCCCCACACACCTCCTCTTCCTCC TCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTC CCTCCCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCTCCCTCC CCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTC CTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCC CACCACACCTCCTCTTCCTCCTCCCTCCCCACACACCTCTTCCTCCCTCC CTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCCACACACCACCTCT TCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCTCCCTCCC CACACACCACCTCTTCCCCCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCTCACACACCA CCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0012 a0012	a0012c0028 a0012c0028	a0012c0028t0001 a0012c0028t0001	a0012c0028t0001g0027 a0012c0028t0001g0027	1	74	0.0135	755	c.89 others(764): Show c.893_*894insAAGAGGTGGTGTGTGAGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGGGGAAGAGGTGGTGTGTGGGGAGGGAGGAGGAAGAGGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGGAGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG GAGGAAGAGGAGGTGTGGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGTGTGGGGAGGGAGGAGGAAGAGGAGGTGTGTGGGGAGGGAGG GGAGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		766		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466576	G G	GGGGAGGG others(748): Show GGGGAGGGAGGGAGGGAGGGGGGAAGCGGTGGTGTGTGGGGAGGGAGGGA GGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGT GTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0004 a0003c0003t0003g0004	1	271	0.0037	755	c.19 others(764): Show c.193_*194insGGGAGGGAGGGAGGGAGGGGGGAAGCGGTGGTGTGT GGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG AGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		67		chrX	TogoVar
VCX_chrX_7838171_7849143	7844325	T T	TGGTGTGT others(748): Show TGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGA GGTGTGGAGGGAGGGAGGAAGAGGTGTGTGGGGGAGGGAGGGAGGAGAGG AGGTGTGTGGGGAGGGAGGGGAGGAAGAGGTGTGTGGGGAGGAAGAGGTG TGTGGGGAGGGAGGAAGAGGTGTTGTGGGGAGGAGAGGGAGGGAGGGAGG AAGAGGTGTGGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGAGGGAGGAGGGGGGAAGAGGTGGTGTGTGGGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGAGGGAGG GAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGAAGAGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA GGGAGGGAGGGAGGAAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAA GAGGTGGTGTGGGGAGGGAGGGAGGGAGGAATAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAGAGGGAGGGTGT GGGGAGGGAGGAGGAAGAGGTGTGGGAGGGAGGAAGAGGGTGTGGGGAGG GAGGGAGGGAAGGGAGGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGA GGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0063 a0063	a0063c0093 a0063c0093	a0063c0093t0001 a0063c0093t0001	a0063c0093t0001g0001 a0063c0093t0001g0001	1	341	0.0029	755	c.30 others(764): Show c.309_*310insGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGAAGAGGTGTGGAGGGAGGGAGGAAGAGGTGTGTGGGGGAGG GAGGGAGGAGAGGAGGTGTGTGGGGAGGGAGGGGAGGAAGAGGTGTGTGG GGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTTGTGGGGAGGAGAG GGAGGGAGGGAGGAAGAGGTGTGGGGGAGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGAGGGAGGAGGGGGGAAGAGGTGGTGTGTGGGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGG TGTGTGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGTGTGGGGAGGGAGGAAGAGTGTGTGGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGGAGGGAGGGAGGAAGGAGGTGTGTGGGGAGGGAGG GAGGGAGGGAGAAGAGGTGGTGTGGGGAGGGAGGGAGGGAGGAATAGGTG GTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AGAGGGAGGGTGTGGGGAGGGAGGAGGAAGAGGTGTGGGAGGGAGGAAGA GGGTGTGGGGAGGGAGGGAGGGAAGGGAGGGAAGAGGTGTGTGGGGAGGG AGGGAGGGAGGGAGGAAGA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		183		chrX	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(748): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAAATA TATATTATAACTATATTAAATATATAAATTATATAATATATATTATATAT TGTATATTATATAATTTATATAATGTATTATATGTTATATAATATATATT ATATATTGTATATATTATATTATATATTATATATTTTATATATCATATAT AGTATGCTATATAATATATTTTTATATATTATATAGTATACTATATATTT TTATATATTATATAGTATACTATATAATATATATTTTTATATATTATATA TAATATATATAATTATATATCATATATATTTATATAATATATGATATATA ATATATAATATATATTATGTATTATATAATTATATAAAATATATCATATA TTATATATTATAAATAATATATTATATATTATATTATATATTATAAATAA TATATTATATATTATATTATATATTATAAATAATATATTATATATTATAT AATATATTATAAATAATATATTATATATTATATTATATATTATAAATAAT ATATTATATATTATATAATATATTATAAATAATATATTATATATTATATT ATATATTATAAATAATATATTATATATTATATTATATATTATAAATAATA TATTATATATTATATTATATATTATAAATAATATATTATATATTATATTA TATATTATAAATAATATATTATATATTATAAATAATATATTATATATAAT ATGTTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp1 HG02922.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0032 a0001c0001t0022g0033 a0001c0001t0022g0032 a0001c0001t0022g0033	2	302	0.0066	755	c.-1- others(772): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAAATATATATTATAACTATATTAAATATATAAATTATAT AATATATATTATATATTGTATATTATATAATTTATATAATGTATTATATG TTATATAATATATATTATATATTGTATATATTATATTATATATTATATAT TTTATATATCATATATAGTATGCTATATAATATATTTTTATATATTATAT AGTATACTATATATTTTTATATATTATATAGTATACTATATAATATATAT TTTTATATATTATATATAATATATATAATTATATATCATATATATTTATA TAATATATGATATATAATATATAATATATATTATGTATTATATAATTATA TAAAATATATCATATATTATATATTATAAATAATATATTATATATTATAT TATATATTATAAATAATATATTATATATTATATTATATATTATAAATAAT ATATTATATATTATATAATATATTATAAATAATATATTATATATTATATT ATATATTATAAATAATATATTATATATTATATAATATATTATAAATAATA TATTATATATTATATTATATATTATAAATAATATATTATATATTATATTA TATATTATAAATAATATATTATATATTATATTATATATTATAAATAATAT ATTATATATTATATTATATATTATAAATAATATATTATATATTATAAATA ATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(748): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAAATA TATATTATAACTATATTAAATATATAAATTATATAATATATATTATATAT TGTATATTATATAATTTATATAATGTATTATATGTTATATAATATATATT ATATATTGTATATATTATATTATATATTATATATTTTATATATCATATAT AGTATGCTATATAATATATTTTTATATATTATATAGTATACTATATATTT TTATATATTATATAGTATACTATATAATATATATTTTTATATATTATATA TAATATATATAATTATATATCATATATATTTATATAATATATGATATATA ATATATAATATATATTATGTATTATATAATTATATAAAATATATCATATA TTATATATTATAAATAATATATTATATATTATATTATATATTATAAATAA TATATTATATATTATATTATATATTATAAATAATATATTATATATTATAT TATATATTATAAATAATATATTATATATTATATTATATATTATAAATAAT ATATTATATATTATATTATATATTATAAATAATATATTATATATTATATT ATATATTATAAATAATATATTATATATTATATTATATATTATAAATAATA TATTATATATTATATTATATATTATAAATAATATATAATATATTATATTA TATATTATAAATAATATATTATATATTATAAATAATATATTATATATAAT ATGTTA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0034 a0001c0001t0061g0034	1	302	0.0033	755	c.-1- others(772): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAAATATATATTATAACTATATTAAATATATAAATTATAT AATATATATTATATATTGTATATTATATAATTTATATAATGTATTATATG TTATATAATATATATTATATATTGTATATATTATATTATATATTATATAT TTTATATATCATATATAGTATGCTATATAATATATTTTTATATATTATAT AGTATACTATATATTTTTATATATTATATAGTATACTATATAATATATAT TTTTATATATTATATATAATATATATAATTATATATCATATATATTTATA TAATATATGATATATAATATATAATATATATTATGTATTATATAATTATA TAAAATATATCATATATTATATATTATAAATAATATATTATATATTATAT TATATATTATAAATAATATATTATATATTATATTATATATTATAAATAAT ATATTATATATTATATTATATATTATAAATAATATATTATATATTATATT ATATATTATAAATAATATATTATATATTATATTATATATTATAAATAATA TATTATATATTATATTATATATTATAAATAATATATTATATATTATATTA TATATTATAAATAATATATTATATATTATATTATATATTATAAATAATAT ATAATATATTATATTATATATTATAAATAATATATTATATATTATAAATA ATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(748): Show GTATATATACATGTATATATATACAAGTATATATATATACAAGTATATAT ATATACTTGTATACATATATACTATATATATACGTATATACACGTATATA CGTATATATATGTATATATACGTATATACATGTATATATACGTATATACA TGTATATACGTATATATACACATATATACATGTATATATACGTATATATA CACATATATACATGTATATATATACGTATATATACACATATATACATGTA TATATATACGTATATATACACATATATACATGTATATATATACGTATATA TACACATATATACATGTATATATACATGTATATATACACATATATACATG CGTATATATATACGTATATATACATGTATATATATACGTATATATACACA TATATACATGTATATATACGTATATATACACATATATACATGTATATATA TACGTATATATACACATATATACATGTATATATATACGTATATATACACA TATATACATGTATATATACGTATATATACACATATATACATGTATATATA CATGTATATATACACATATATACATGCGTATATATATACGTATGTATATA TGTATATATACGTATATACATGTATATATATACGTATATATACATATATA CGTATATATATATACGTATATATACGTATATACGTATATATATATACGTA TATATACATATATATACATGTATATATATGTGTGTATATATATACGTATA TATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0261 a0002c0002t0003g0261	1	383	0.0026	755	c.-42 others(766): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TATACAAGTATATATATATACTTGTATACATATATACTATATATATACGT ATATACACGTATATACGTATATATATGTATATATACGTATATACATGTAT ATATACGTATATACATGTATATACGTATATATACACATATATACATGTAT ATATACGTATATATACACATATATACATGTATATATATACGTATATATAC ACATATATACATGTATATATATACGTATATATACACATATATACATGTAT ATATATACGTATATATACACATATATACATGTATATATACATGTATATAT ACACATATATACATGCGTATATATATACGTATATATACATGTATATATAT ACGTATATATACACATATATACATGTATATATACGTATATATACACATAT ATACATGTATATATATACGTATATATACACATATATACATGTATATATAT ACGTATATATACACATATATACATGTATATATACGTATATATACACATAT ATACATGTATATATACATGTATATATACACATATATACATGCGTATATAT ATACGTATGTATATATGTATATATACGTATATACATGTATATATATACGT ATATATACATATATACGTATATATATATACGTATATATACGTATATACGT ATATATATATACGTATATATACATATATATACATGTATATATATGTGTGT ATATATATACGTATATATACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ABR_chr17_998519_1184981	1153529	G G	GGGGGTCC others(749): Show GGGGGTCCAGTCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCG GGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCA CACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGG TCCAGGCACACCTGCGGGAGGGCTAGGGATCCAGGCACACCTGCGGGAGG GCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCACACCT GCGGGGAGGGCTGGGGGTCCAGTCACACCTGCGGGAGGGCTGGGGGTCCA GGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTG GGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGG GAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCAC ACCTGCGGGAGGGCTAGGGATCCAGGCACACCTGCGGGAGGGCTGGGGGT CCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGGAGG GCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCT GCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAG GCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGG GGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGG AGGGCTA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0131 a0001c0001t0003g0130 a0001c0001t0002g0131 a0001c0001t0003g0130	2	337	0.0059	756	c.61+ others(773): Show c.61+26137_61+26138insTAGCCCTCCCGCAGGTGTGCCTGGACCC CCAGCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGC CTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGC AGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGC CCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCCGCAGGTGTGCCTGG ACCCCCAGCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGT GTGCCTGGATCCCTAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTC CCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCC CAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTGCC TGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCA GGTGTGACTGGACCCCCAGCCCTCCCCGCAGGTGTGCCTGGACCCCCAGC CCTCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGA TCCCTAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTG TGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCC CGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCC AGCCCTCCCGCAGGTGTGACTGGACCCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173286	C C	CCAACACA others(749): Show CCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCC GACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGTCCACCCAACA CATCACCTCAGCCCACCCAACACGTCACCTCAGCCCACCCAACACATCAC CTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTC AGCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCA CCCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCC CCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCC CGACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGTCCACCCAAC ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCA CCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCCCCCCATCACCT CAGCCCACCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCC ACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCC CCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCA GTCCACT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0302 a0001c0001t0082g0302	1	337	0.0030	756	c.61+ others(771): Show c.61+6380_61+6381insAGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGT TGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTG GACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGA GGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTG TGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTG TGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTG GGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGT GGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGA CTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGG TGACGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGACTGAGGTGATGT GTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGT GTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGT GGGGGGTGGACTGAGGTGATGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173286	C C	CCAACACA others(749): Show CCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCC GACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGTCCACCCAACA CATCACCTCAGCCCACCCAACACGTCACCTCAGCCCACCCAACACATCAC CTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTC AGCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCA CCCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCC CCACACGTCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCC CGACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGTCCACCCAAC ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCA CCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCCCCCCATCACCT CAGCCCACCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCC ACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCC CCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCA GTCCACT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0332 a0001c0001t0004g0332	1	337	0.0030	756	c.61+ others(771): Show c.61+6380_61+6381insAGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGT TGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTG GACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGA GGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTG TGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTG TGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTG GGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGT GGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGA CTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGG TGACGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGACTGAGGTGATGT GTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGT GTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGT GGGGGGTGGACTGAGGTGATGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADCK5_chr8_144369047_144398242	144380678	A A	ACAGATGT others(749): Show ACAGATGTGTGCTCAGGCGCCTGCTGCACTCAGGATTATGGGCCGGGTGT AGAAACAGATGTGTGCTCAGGCACTTCCCGCAGTCAGGATTATGGGCCGG GTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACTAAGGATTATGGG CCGGGTGCAGAAACAGATGTGCGATCAGGCACCTCCCGCAGTCAGGATTA TGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTCCCGCAGTCAGA ATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACT AAGGATTATAAGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCGG CACTCAGCATTATGGGCGGGGTGTAGAAACAGATGTGTGCTCAGACGCCT CCCGCACTCAGGATTATGGGCCGGGTGCAGAAACAGATGTGTGCTCAGGC ACCTGCCGCACTCAGGATTATGGGCCGGGTGTAGAAAGAGATGTGTGCTC AGGCGCCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGT GCTCAGGCACCTGCCGCACTAAGGATTATGGGCTGGGTGTAGAAACAGAT GTGTGCTCAGGCACCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGAAAC AGATGTGTGCTCAGGCACCTGCTGCACTAAGGATTATGGGCTGGGTGTAG AAACAGATGTGTGCTCAGGCACCTGCTGCACTCAGGATTATGGGCTGGGT GTAGAAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	346	0.0029	756	c.116 others(773): Show c.116+1205_116+1206insGCCTGCTGCACTCAGGATTATGGGCCGG GTGTAGAAACAGATGTGTGCTCAGGCACTTCCCGCAGTCAGGATTATGGG CCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACTAAGGATTA TGGGCCGGGTGCAGAAACAGATGTGCGATCAGGCACCTCCCGCAGTCAGG ATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTCCCGCAGT CAGAATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTG CACTAAGGATTATAAGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCT GCGGCACTCAGCATTATGGGCGGGGTGTAGAAACAGATGTGTGCTCAGAC GCCTCCCGCACTCAGGATTATGGGCCGGGTGCAGAAACAGATGTGTGCTC AGGCACCTGCCGCACTCAGGATTATGGGCCGGGTGTAGAAAGAGATGTGT GCTCAGGCGCCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGAAACAGAT GTGTGCTCAGGCACCTGCCGCACTAAGGATTATGGGCTGGGTGTAGAAAC AGATGTGTGCTCAGGCACCTCCCGCAGTCAGGATTATGGGCCGGGTGTAG AAACAGATGTGTGCTCAGGCACCTGCTGCACTAAGGATTATGGGCTGGGT GTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACTCAGGATTATGGGCT GGGTGTAGAAGCAGATGTGTGCTCAGGC	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRA1_chr10_133082924_133136675	133111499	A A	AACCTGCC others(749): Show AACCTGCCCACCACAGGCACCTCCCTCCTAATCCCCCCAGACAACCTGCC CACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAG GCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC AGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTA ATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACC AGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACC TGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACC ACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACAC CTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCC TAATCCCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCT CCAGACC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0016 a0001c0002t0008g0016	1	368	0.0027	756	c.401 others(773): Show c.401+8672_401+8673insGCACCTCCCTCCTAATCCCCCCAGACAA CCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCA CCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGAC ACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCT CCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGAC AACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCC CACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG GCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCC CTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTG CCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCAC AGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCT CCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTA ATCCCTCCAGACCACCTGCCCACCACAG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111555	G G	GGACACCT others(749): Show GGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTA ATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCC AGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACC TGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACC ACGGGCACCTCCCTCCTAATGCCTCCAGACAACCTGCCCACCACGGGCAC CTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCC TAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCA CCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAA CCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCA CCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGC ACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCT CCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCC CTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGAC AACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCC CACCACA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0268 a0001c0001t0003g0268	1	368	0.0027	756	c.401 others(773): Show c.401+8740_401+8741insCACCTGCCCACCACAGGCACCTCCCTCC TAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCA CCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCA CCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCA CCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGC ACCTCCCTCCTAATGCCTCCAGACAACCTGCCCACCACGGGCACCTCCCT CCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGAC CACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCC CACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGG GCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCAC AGACACCTCCCTCCTAATCCCACCAGAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111961	C C	CACCTGCC others(749): Show CACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCC CACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGG GCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTA ATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACC AGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACC TGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACC ACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCAC CTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCC TAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCA CCAGACA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0292 a0001c0001t0020g0292	1	368	0.0027	756	c.401 others(773): Show c.401+9150_401+9151insCCCACCAGACCACCTGCCCACCACAGGC ACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCT CCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGAC CACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCC CACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGG GCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC AGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACC AGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACC TGCCCACCACAGGCACCTCCCTCCTAAT	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar

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