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
KCNQ2_chr20_63395208_63477655	63442935	C C	CCACCACC others(436): Show CCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACC ATTACCATCACCATCACCACCATCACCATCACCACCAACATCACATCAAC ACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCAC CACCACCACCACCACCATCACTATCACCACCATCACCATCACCACCACCA CCACCACCACCATCACCACCACCACCATCACCACCATCACCATCACCACC ACCACCACCATCACCACCATCACCATCACCACCATCACCATCACCACCAC CACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCA CCACCACCACCACCACCACCATCACCATCACCACCACCATCACCATTATC ACCACCACCATCACCACCATCACCACCACCACCATCACCATCAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0031 a0001c0002t0002 a0001c0002t0031	a0001c0002t0002g0183 a0001c0002t0031g0182 a0001c0002t0031g0184 a0001c0002t0002g0183 a0001c0002t0031g0182 a0001c0002t0031g0184	3	330	0.0091	443	c.691 others(458): Show c.691-405_691-404insTTGATGGTGATGGTGGTGGTGGTGATGGTG GTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGGT GGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGG TAATGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGATGGTG GTGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATAGTGATGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTTTTGGTGGTGGTG ATGGTGGTCATGGTGTTGATGTGATGTTGGTGGTGATGGTGATGGTGGTG ATGGTGATGGTAATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGAT GGTGATGGTGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KDM4B_chr19_4964113_5158598	5131563	A A	AGGCAGGG others(436): Show AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGA GGGGGCAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGAGGGGGCAGGGAG GAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGAGGGGGCAGGG AGGAGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCAC AGGGGAGCTGGTGGTGGGGGAGGGGGGCAGGGGAGGAGGGGGCAGGTGGG GCACAGGGGAGCTGGTGGTGGGGGAGGGGGGCAGGGGAGGAGGGGGCAGG TGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTG GTGGGGGAGGGGGGCAGGGGAGGAGGGGGCAGGTGGGGTGGGGCAGGGGA GGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0009 a0001c0001t0017g0009	1	270	0.0037	443	c.178 others(458): Show c.1785+47_1785+48insAGCGGGGGAGGCAGGGAGGAGGGGGCAGGT GGGGCACAGGGGAGCTGGTGGTGGGGGAGGGGGCAGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGTGGGGGAGGGGGCAGGGAGGAGGGGGC AGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTG GTGGTGGGGGAGGGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGA GCTGGTGGTGGGGGAGGGGGGCAGGGGAGGAGGGGGCAGGTGGGGTGGGG CAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGAGG GGGGCAGGGGAGGAGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCA GGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
LAMA5_chr20_62304065_62372312	62349784	T T	TGGTGGGG others(436): Show TGGTGGGGGTGATGACGGTGGGGCTGGGGGTGATGACGGTAGGGGTGATG ACGGTGATGATGGGGGTGGGGGGGGTGATGACGGTGATGTGGGGGTGATG ACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTGGG GGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTGAGGGTGGTGG GGGTGGGGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTG GGGGTGATGATGGTGATGGTAGGGGTGATGATGGTGGGGGTGGGGGTGGG GGTGGGGGTGAGGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGA GGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGATG GTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGACGGTGGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0021 a0021	a0021c0077 a0021c0077	a0021c0077t0001 a0021c0077t0001	a0021c0077t0001g0018 a0021c0077t0001g0018	1	186	0.0054	443	c.956 others(460): Show c.956+1919_956+1920insCCCACCGTCATCACCCCCACCCCCACCC CCACCCCCACCCCCACCATCATCACCCTCACCCCCACCCCCACCCCCACC CCCACCATCATCACCCTCACCCCCACCCCCACCCCCACCCCCACCATCAT CACCCTCACCCCCACCCCCACCCCCACCCCCACCATCATCACCCCTACCA TCACCATCATCACCCCCACCCCCACCCCCACCATCACCCCCACCATCATC ACCCTCACCCCCACCCCCACCACCCTCACCATCATCACCCCCACCCCCAC CATCATCACCCCCACCCCCACCATCATCACCCCCACCCCCACCGTCATCA CCCCCACCCCCACCGTCATCACCCCCACATCACCGTCATCACCCCCCCCA CCCCCATCATCACCGTCATCACCCCTACCGTCATCACCCCCAGCCCCACC GTCATCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LHPP_chr10_124456823_124619141	124506684	A A	AGATTTCA others(436): Show AGATTTCAAGTGGGGTGGGTAAGGAGGATTTCAGGTCGGGGGGTAGACAG GATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGACAG GATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGCAGGGGTAGACAGG ATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGACAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGA TTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGACAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGAT TTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATT TCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	260	0.0039	443	c.624 others(460): Show c.624+8563_624+8564insAGTGGGGTGGGTAAGGAGGATTTCAGGT CGGGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTC GGGGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTG CAGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGA GGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAG GGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAG GGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGG GGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGG GGGTAGGGAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	857692	T T	TCGGGACG others(436): Show TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	294	0.0034	443	c.153 others(462): Show c.1530-2987_1530-2986insTGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTG CACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACA CCCGTCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCG TCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCC GTGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857692	T T	TCGGGACG others(436): Show TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGA GTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19003.hp1 NA18947.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0161 a0001c0001t0001g0163	2	294	0.0068	443	c.153 others(462): Show c.1530-2987_1530-2986insTGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTG CACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACA CCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCG TCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCC GTGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857692	T T	TCGGGACG others(436): Show TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGA GTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGATGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	294	0.0034	443	c.153 others(462): Show c.1530-2987_1530-2986insTGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCATCCCGTGACACCACTG CACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGAGACACCACTGCACACCCATCCCGTGACACCACTGCACA CCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCG TCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCC GTGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	AGTGGTGT others(436): Show AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGA TGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACG GGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGG TGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	294	0.0034	443	c.153 others(462): Show c.1530-3000_1530-2999insCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCC GTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCC CGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCG AGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTG ACACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACA CCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCAC TCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACACC CGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857715	T T	TCGGGACG others(436): Show TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTG GTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCGTGGTGTCA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	294	0.0034	443	c.153 others(462): Show c.1530-3010_1530-3009insTGACACCACGCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTC ACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACAC CCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCG TCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GTGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MAN1A2_chr1_117362449_117533872	117429801	C C	CGGGGGGG others(436): Show CGGGGGGGCCGACACCCCCACCTCCCTCCCGGAGGGGGGCGGCTGGCCGA CCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCATGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACG GGGCGGCTGGCCGGGTGGGGGTGCTGACCCCCCCATCTCCCTCCCGGACG GGGTAGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0010 a0001c0001t0043g0010	1	370	0.0027	443	c.855 others(460): Show c.855+9158_855+9159insGCCGACACCCCCACCTCCCTCCCGGAGG GGGGCGGCTGGCCGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCATGCGGGGGGCTGACCCCCCCA CCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGTGCTGACCCCCCCA TCTCCCTCCCGGACGGGGTAGCTGGCCGGGCTGAGGGGCTCCTCACTTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGG	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MARCHF2_chr19_8408305_8444017	8428651	A A	AAAAAAAA others(436): Show AAAAAAAAAAAAAAAAAAAAAAAAAACAAAACCAAGGCTGGACGTGGTGG CTCACAATCCCAGCACTTTGGGAGGCAGAGGTGGGTGGATCACCTGAGTT CAGGAGTTCGAGACCAGCCTGGCCAATGTGGTAAAACACCGTCTCTACTA AAAATACAAAAATTAGCTGGGCATGGTGGCGGGGGCCTGTAATCCCAGCT TGAACCCGGAAGGCGGAGGTTGCAGTGAGCTGAGACTAAGCCACTGCACT CCAGCCTGGGTGACAAAGCAAAACTCTGTCTCAAACGATGAGGAAAAAGC TAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATCACTTAAAGCTGGGAGGCGGAGTTTGCAGTGAGTTGAGATAG CGCCACTGCACTCCAGCCTGGGCAACAGATTGAGACTCTATCTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0345 a0001c0001t0010g0345	1	392	0.0026	443	c.372 others(460): Show c.372+1872_372+1873insCAAAACCAAGGCTGGACGTGGTGGCTCA CAATCCCAGCACTTTGGGAGGCAGAGGTGGGTGGATCACCTGAGTTCAGG AGTTCGAGACCAGCCTGGCCAATGTGGTAAAACACCGTCTCTACTAAAAA TACAAAAATTAGCTGGGCATGGTGGCGGGGGCCTGTAATCCCAGCTTGAA CCCGGAAGGCGGAGGTTGCAGTGAGCTGAGACTAAGCCACTGCACTCCAG CCTGGGTGACAAAGCAAAACTCTGTCTCAAACGATGAGGAAAAAGCTAGG TGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATCACTTAAAGCTGGGAGGCGGAGTTTGCAGTGAGTTGAGATAGCGCC ACTGCACTCCAGCCTGGGCAACAGATTGAGACTCTATCTCAAAAAAAAAA AAAAAAAAAAAAAAA	MARCHF2	ENSG00000099785.11	transcript	ENST00000215555.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(436): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03017.hp2 NA19007.hp2 HG00597.hp2 HG03017.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0158 a0001c0001t0002g0258 a0001c0001t0002g0085 a0001c0001t0002g0158 a0001c0001t0002g0258	3	390	0.0077	443	c.112 others(460): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ATATATATATATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(436): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18986.hp2 NA18977.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	2	390	0.0051	443	c.112 others(460): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT ATATATATATATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735557	A A	ATAGGCAG others(436): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	390	0.0026	443	c.112 others(460): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA TATATATATATATAT	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7			chr1	TogoVar
MPPED1_chr22_43407014_43512848	43475478	G G	GGTGATAA others(436): Show GGTGATAATGGTGATGGTGGTGATGGTGATGATGGTGATGCTGATGGTAT AGTGACGATGATGGTGATAATAATGGGGATGATGGTGATGGTGATTATGG TGATGTTGATAATGGTGGTGATGGTGGCAATGTTGGTGATGATGGTAATG ATAATGGTGGTGGGAATGATGATGGTAAGGTAATGACAATGATGAGGGTG ATGGTGGTGGTGTGTATGATCATAATAGTGAGGGTGGTGATGGTGATGGT GATGATTGATGATTGCAATGGTGGTGATGATGGTGATGATGATGATGGTT GTGGTGATGGTGGTGGTGTGATGATGGTGAGGGTAGTGATGGTGATAATG ATGGTGATGATGGTGGTGTGATGATGGTGAGGGTAGTGATAGTGATAATG ATGGTGATGATGGTGGGTGATGCTGATGGTGATGATGATGATAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0192 a0001c0001t0006g0192	1	250	0.0040	443	c.632 others(458): Show c.632+522_632+523insAATGGTGATGGTGGTGATGGTGATGATGGT GATGCTGATGGTATAGTGACGATGATGGTGATAATAATGGGGATGATGGT GATGGTGATTATGGTGATGTTGATAATGGTGGTGATGGTGGCAATGTTGG TGATGATGGTAATGATAATGGTGGTGGGAATGATGATGGTAAGGTAATGA CAATGATGAGGGTGATGGTGGTGGTGTGTATGATCATAATAGTGAGGGTG GTGATGGTGATGGTGATGATTGATGATTGCAATGGTGGTGATGATGGTGA TGATGATGATGGTTGTGGTGATGGTGGTGGTGTGATGATGGTGAGGGTAG TGATGGTGATAATGATGGTGATGATGGTGGTGTGATGATGGTGAGGGTAG TGATAGTGATAATGATGGTGATGATGGTGGGTGATGCTGATGGTGATGAT GATGATAAGTGAT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(436): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG03017.hp1 NA19007.hp1 HG00597.hp2 HG03017.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	364	0.0082	443	c.18 others(454): Show c.1842_*1843insATATATATATATATTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTG CAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCAC CACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAT GTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGG CATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTG GAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCC TCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATG CCTGCCTAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(436): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	443	c.18 others(454): Show c.1842_*1843insATATATATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTG CAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCAC CACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAT GTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGG CATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTG GAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCC TCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATG CCTGCCTAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735557	A A	ATAGGCAG others(436): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	443	c.18 others(454): Show c.1840_*1841insATATATATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGT GCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCA CCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCA TGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCG GCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCT GGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATC CTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCAT GCCTGCCTA	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1745		chr1	TogoVar
MSH4_chr1_75791882_75918242	75885668	T T	TATAATAT others(436): Show TATAATATATATTATATATTATATATTATAATATATTATATATTATAATA TATATTATATATTATATATTATAATATATATACCTGATATATTTAAGGTA TTATATATAATACCTTATATATTATATATATAATACCTTATAAGGTATTA TATATAATATTATATATTATATATAATATATATATTATATATAATATATA AATGTATATATTATATATTATACATATATATTATATACATATATTATATA TAATATATATTTTATATATTATATATGTATATATGTAATATATATAACCT TCACATTTATTTCAGTTATATAATGTGAAGGTAATATATATATGTTATTT TGTGTATATATAAAGTATTATATATAATGTATTATATATTATATAGTATA TATAGTATATATAATGTATTATATATTATATAGTATATATAGTA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02257.hp1 HG02135.hp2 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0275 a0001c0002t0001g0311 a0001c0002t0001g0275 a0001c0002t0001g0311	2	332	0.0060	443	c.210 others(462): Show c.2107+1847_2107+1848insATAATATATATTATATATTATATATT ATAATATATTATATATTATAATATATATTATATATTATATATTATAATAT ATATACCTGATATATTTAAGGTATTATATATAATACCTTATATATTATAT ATATAATACCTTATAAGGTATTATATATAATATTATATATTATATATAAT ATATATATTATATATAATATATAAATGTATATATTATATATTATACATAT ATATTATATACATATATTATATATAATATATATTTTATATATTATATATG TATATATGTAATATATATAACCTTCACATTTATTTCAGTTATATAATGTG AAGGTAATATATATATGTTATTTTGTGTATATATAAAGTATTATATATAA TGTATTATATATTATATAGTATATATAGTATATATAATGTATTATATATT ATATAGTATATATAGTA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75906505	A A	AATATATA others(436): Show AATATATATACATATTATATATATTATATATATACATATATATGTATATA TACATATATAATATGTATATATGTATATATATGTATAATATATATATTGT ATATATATATTATACATATGTATATATATATTATACATATATATATGTAT AATATATATAATGTATATATATACATATTATATATTATATATAATATATA CATATATATTATATATAATATATACATATTATATATTATATATATAATAT ATATACATATTATATTATATATATAATATATATACATATTACATATATTA TATATAATATATATACATATATAATATATTATATATTATATATATTATAT ATAATATATAATATATTATATATTATATATAATATATAATATATTATATA TTATATATAATATATTATATATTATATATAATATATTATATATC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	332	0.0030	443	c.262 others(462): Show c.2620-6191_2620-6190insATATATATACATATTATATATATTAT ATATATACATATATATGTATATATACATATATAATATGTATATATGTATA TATATGTATAATATATATATTGTATATATATATTATACATATGTATATAT ATATTATACATATATATATGTATAATATATATAATGTATATATATACATA TTATATATTATATATAATATATACATATATATTATATATAATATATACAT ATTATATATTATATATATAATATATATACATATTATATTATATATATAAT ATATATACATATTACATATATTATATATAATATATATACATATATAATAT ATTATATATTATATATATTATATATAATATATAATATATTATATATTATA TATAATATATAATATATTATATATTATATATAATATATTATATATTATAT ATAATATATTATATATC	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
NHLRC4_chr16_562005_574495	571084	T T	TGTGTGTG others(436): Show TGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATG TGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCC CGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGC CTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCG TGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGGCTAGCCTTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	443	c.26 others(454): Show c.2665_*2666insGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCC GTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGT GGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTG GCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGG CTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGG GGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGC TAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGC CTGGCGCCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1590		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(436): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTG TGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCT CCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTA GCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGG GGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGC GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGG CGCCCGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	443	c.26 others(454): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCT AGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAG CCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGT CTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGT GTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGT GTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGT GTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTCTGGCTAGCC TGGCACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(436): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGA AAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGGAAGGGAGGGGGAGGGGAAAGGGGGAA GGGAGAAGGGGGAGGGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAG GAAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGA GGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGG GAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0017 a0001c0001t0093g0017	1	344	0.0029	443	c.154 others(460): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCC CCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTTCTCCCTC CCCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCC CCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(436): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGA AAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGGAAGGGAGGGGGAGGGGAAAGGGGGAA GGGAGAAGGGGGAGGGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAG GAAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGA GGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGG GAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01070.hp1 others(41): Show HG00621.hp2 HG00735.hp1 HG01070.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG02004.hp2 HG02273.hp1 HG02523.hp1 HG02602.hp1 HG02698.hp2 HG03654.hp2 HG03669.hp2 HG03834.hp1 NA18944.hp1 NA18946.hp1 NA18970.hp2 NA18978.hp2 NA18982.hp2 NA18983.hp1 NA18988.hp1 NA18991.hp1 NA18998.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19058.hp1 NA19060.hp1 NA19074.hp1 NA19076.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0021 a0002c0009 others(1): Show a0001c0001 a0001c0021 a0002c0009 a0006c0012	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(20): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0094 a0001c0001t0095 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0021t0009 a0002c0009t0114 a0006c0012t0016	a0001c0001t0003g0124 a0001c0001t0003g0133 a0001c0001t0003g0136 others(40): Show a0001c0001t0003g0124 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0147 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0008g0019 a0001c0001t0008g0106 a0001c0001t0008g0116 a0001c0001t0008g0119 a0001c0001t0009g0120 a0001c0001t0009g0129 a0001c0001t0009g0130 a0001c0001t0015g0005 a0001c0001t0015g0125 a0001c0001t0016g0138 a0001c0001t0016g0139 a0001c0001t0016g0160 a0001c0001t0018g0021 a0001c0001t0018g0117 a0001c0001t0018g0123 a0001c0001t0025g0127 a0001c0001t0025g0144 a0001c0001t0025g0151 a0001c0001t0026g0149 a0001c0001t0040g0140 a0001c0001t0041g0108 a0001c0001t0042g0157 a0001c0001t0042g0158 a0001c0001t0043g0105 a0001c0001t0043g0118 a0001c0001t0090g0141 a0001c0001t0091g0152 a0001c0001t0092g0153 a0001c0001t0094g0018 a0001c0001t0095g0115 a0001c0001t0099g0156 a0001c0001t0100g0121 a0001c0001t0101g0146 a0001c0021t0009g0134 a0002c0009t0114g0135 a0006c0012t0016g0128	44	344	0.1279	443	c.154 others(460): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCC CCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTTCTCCCTC CCCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCC CCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(436): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGA AAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGGAAGGGAGGGGGAGGGGAAAGGGGGAA GGGAGAAGGGGGAGGGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAG GAAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGA GGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGG GAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGCAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp1 HG02895.hp1 others(1): Show HG02630.hp2 HG02886.hp1 HG02895.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0003 a0001c0001t0027	a0001c0001t0003g0103 a0001c0001t0003g0110 a0001c0001t0027g0113 others(1): Show a0001c0001t0003g0103 a0001c0001t0003g0110 a0001c0001t0027g0113 a0001c0001t0027g0122	4	344	0.0116	443	c.154 others(460): Show c.1545+370_1545+371insCCCTTCCCCTGCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCC CCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTTCTCCCTC CCCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCC CCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(436): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGA GGGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGG GAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGG GAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGG GACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGA GGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 NA18953.hp2 HG01109.hp1 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0051 a0001c0002t0001 a0001c0002t0051	a0001c0002t0001g0248 a0001c0002t0051g0193 a0001c0002t0001g0248 a0001c0002t0051g0193	2	386	0.0052	443	c.92 others(454): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCTCTCCCTCCCCCTCTCCCTCTCCTTCTCCC TCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTC CCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCTTCTCTCCC TCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCTCCCCTCCCACCCCCCTC CCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCC TCTCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTC TCCCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTC CCCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(436): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGG GAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGG GACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGA GGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0055 a0001c0002t0055	a0001c0002t0055g0181 a0001c0002t0055g0181	1	386	0.0026	443	c.92 others(454): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCTCTCCCTCCCCCTCTCCCTCTCCTTCTCCC TCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTC CCTCCCCCTCCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCT CCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCTTCTCTCC CTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCTCCCCTCCCACCCCCTC CCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCC TCTCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTC TCCCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTC CCCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(436): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGGAGGGAGAGAGATGGGG GAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGG GACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGA GGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0240	1	386	0.0026	443	c.92 others(454): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCTCTCCCTCCCCCTCTCCCTCTCCTTCTCCC TCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTC CCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCCTCCCTCCCTCTCCCTCT CCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCTTCTCTCC CTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCTCCCCTCCCACCCCCTC CCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCC TCTCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTC TCCCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTC CCCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(436): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GGAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGA GGGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGG GAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGG GAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGG GACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGA GGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 NA19009.hp2 HG00642.hp1 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0031 a0001c0002t0001 a0001c0002t0031	a0001c0002t0001g0271 a0001c0002t0031g0197 a0001c0002t0001g0271 a0001c0002t0031g0197	2	386	0.0052	443	c.92 others(454): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCTCTCCCTCCCCCTCTCCCTCTCCTTCTCCC TCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTC CCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCTTCTCTCCC TCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCTCCCCTCCCACCCCCTCC CTCTCTCTCCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCC TCTCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTC TCCCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTC CCCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(436): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGGAGAGGGG GGAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGA GGGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGG GAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGG GAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGG GACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGA GGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	386	0.0026	443	c.92 others(454): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCTCTCCCTCCCCCTCTCCCTCTCCTTCTCCC TCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTC CCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCTTCTCTCCC TCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCTCCCCTCCCACCCCCTCC CTCTCTCTCCCCCCTCTCCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCC TCTCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTC TCCCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTC CCCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(436): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGGAGAGGGAGGGGAGGGGGAGAGGGG GGAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGA GGGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGG GAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGG GAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGG GACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGA GGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	386	0.0026	443	c.92 others(454): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCTCTCCCTCCCCCTCTCCCTCTCCTTCTCCC TCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTC CCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCTTCTCTCCC TCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCTCCCCTCCCACCCCCTCC CTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCCTCCCCTCCC TCTCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTC TCCCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTC CCCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(436): Show GGGGAGGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAG AGAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGG AGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGG GGAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGA GGGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGG GAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGG GAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGG GACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGA GGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 NA19086.hp1 HG01192.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0288 a0001c0002t0007g0358 a0001c0002t0001g0288 a0001c0002t0007g0358	2	386	0.0052	443	c.92 others(454): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCTCTCCCTCCCCCTCTCCCTCTCCTTCTCCC TCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTC CCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCTTCTCTCCC TCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCTCCCCTCCCACCCCCTCC CTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCT CTCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTCT CCCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCC CCCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
OR1F1_chr16_3183204_3211556	3197778	G G	GGAGGGAG others(436): Show GGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGG AGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGG AGAAGGAGAGGGAGAAGGAGAGGGAGAGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	328	0.0031	443	c.-12 others(460): Show c.-12-6353_-12-6352insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGAGAA GGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGG AGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAG AGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAG GGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGG AGAAGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83951962	C C	CCCTCCCT others(436): Show CCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCC TCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCC TTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCC TCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTG CCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGT CCTCCCTTCCTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCT TCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTC CCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	350	0.0029	443	c.-14 others(454): Show c.-1441_-1440insCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCT TCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCT TCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCC TCCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCC CTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTC CCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCTCCTT TCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCC CTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCT CCCTCCCTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1277		chr16	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(436): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTAATACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTA ATACATATATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	400	0.0025	443	c.70 others(454): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTAATAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATG TATTACATATATGTAATACATATATAACATGTATTACATATATGTAATAC ATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(436): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTA ATACATATATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG03490.hp1 HG02132.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0078 a0001c0001t0001g0001 a0001c0001t0001g0078	2	400	0.0050	443	c.70 others(454): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATG TATTACATATATGTAATACATATATAACATGTATTACATATATGTAATAC ATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(436): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTA ATACATATATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01516.hp2 HG00544.hp1 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	400	0.0050	443	c.70 others(454): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATG TATTACATATATGTAATACATATATAACATGTATTACATATATGTAATAC ATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(436): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTA ATACATATATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	400	0.0025	443	c.70 others(454): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATG TATTACATATATGTAATACATATATAACATGTATTACATATATGTAATAC ATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(436): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGG AGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGG AGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGG GGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGG AGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGG AGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0092 a0003c0003t0004g0092	1	115	0.0087	443	c.305 others(464): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGA GGGGGAGGGGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGG GGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAG GAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGG GTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAG GAGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PLEKHA4_chr19_48832097_48873617	48835084	C C	CTGGACTC others(436): Show CTGGACTCCTGGGTCTCAGGGAGGAGGGGTTGGGGACTTGGACTCCTGGG TCTGAGGGAGGAGGTGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTG GACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCC GAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGG CTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0009 a0005c0005t0009	a0005c0005t0009g0008 a0005c0005t0009g0008	1	300	0.0033	443	c.22 others(454): Show c.2204_*2205insAGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT CCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGC CCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCA GACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCC AGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCC CTACTTCCTCGGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGA CCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCAGACCCAGGAGTCCAG ACCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCACCTC CTCCCTCAGACCCAGGAGTCCAAGTCCCCAACCCCTCCTCCCTGAGACCC AGGAGTCCA	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2012		chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(436): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATG GGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGT GGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGG TGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGG TGGTGGTAATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATG GTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGT GATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18961.hp1 NA18980.hp2 others(1): Show NA18954.hp1 NA18961.hp1 NA18980.hp2 NA19000.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0001c0001t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0252 a0002c0002t0001g0001 a0002c0002t0001g0028 others(1): Show a0001c0001t0001g0252 a0002c0002t0001g0001 a0002c0002t0001g0028 a0003c0004t0001g0120	4	374	0.0107	443	c.-46 others(454): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGAT GGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGG TGGTAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTG GTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGG TGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(436): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATG ATGATGGTGATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAAT GGTGATGGTGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGG TGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGG TGGTGGTAATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATG GTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGT GATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0119 a0002c0002t0001g0119	1	374	0.0027	443	c.-46 others(454): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATG GGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGT GGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTG GTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGG TGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RGPD5_chr2_109789305_109862705	109794573	A A	ACCCGGCC others(436): Show ACCCGGCCGGGGGGGGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCCG GCCGGGGGGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCCCGGCCCC GGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCCCGGCC CCGGCCCCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGG CGGCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGCGGC GGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCCCGGCCCGGCCGGGGGGCG GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGC CCGGCCGGGGGGCGGCGGCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0015 a0015	a0015c0010 a0015c0010	a0015c0010t0008 a0015c0010t0008	a0015c0010t0008g0021 a0015c0010t0008g0021	1	40	0.0250	443	c.72+ others(454): Show c.72+49_72+50insGGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCC CGGCCGGGGGGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCCCGGCC CCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCCCGG CCCCGGCCCCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGC GGCGGCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCGGCCGGGGGGCGGCG GCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCCCGGCCCGGCCGGGGGG CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCG GCCCGGCCGGGGGGCGGCGGCGGCCCCGGCCCCGGCCCGGCCGGGGGGCG GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCG GCCGGGGGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF213_chr17_80255852_80403794	80274585	T T	TGTGGGGG others(436): Show TGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGA GGGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGT GGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTG TCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGTGGGGTG AGTGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTG GGGGGTGAGTGGGGTGAGTGTGGGGGTGAGTGGGGTGAGTGTGGGGGGTG AGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGGTGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp1 HG01928.hp2 others(1): Show HG00741.hp2 HG01071.hp1 HG01928.hp2 NA20300.hp2	a0001 a0001	a0001c0021 a0001c0124 a0001c0021 a0001c0124	a0001c0021t0001 a0001c0021t0002 a0001c0124t0002 a0001c0021t0001 a0001c0021t0002 a0001c0124t0002	a0001c0021t0001g0063 a0001c0021t0001g0080 a0001c0021t0002g0069 others(1): Show a0001c0021t0001g0063 a0001c0021t0001g0080 a0001c0021t0002g0069 a0001c0124t0002g0068	4	292	0.0137	443	c.261 others(460): Show c.261+1209_261+1210insAGTGAGTGGGGTGAGTGTGGAGGGTGAG TGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGTCTGTGG GGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTG AGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGT GAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGTGGGGTGAGTGTGT GGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTG AGTGGGGTGAGTGTGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGGTGAGTGGGGGGTGAGT GGGGTGAGTGTGGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGGGGACA others(436): Show AGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGG ACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGAC AGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGG GCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCG GGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAG AGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGG GACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGAGAG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0033 a0001c0002t0003g0033	1	133	0.0075	443	c.351 others(462): Show c.351+14310_351+14311insCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCC CCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGC CCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGT CCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCC CCTCTCGCCCTGTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	309595	G G	GACCCCTG others(436): Show GACCCCTGCTGGGGGTCCGGGATATGGCATGTCCCCCGCCCTGCCCAGGG CTCCTGCCAGCCCCCCTGCTGGGGGTCCGGGATATGGCACGTCCCCCGTC CAGGGCTCCTGCCAGCCCCCTGCTGGGGGTCTGGGATACGGCATGTCCCC CGTCCAGGGCTCCTGCCAGCCCCCCTGCTGGGGGTCCGGGATACGGCATG TCCCCCGTCCAGGGCTCCTGCCAGCCCCCCTGCTGGGGGTCCGGGATATG GCACGTCCCCCGTCCAGGGCTCCTGCCAGCCCCCTGCTGGGGGTCTGGGA TACGGCATGTCCCCCGTCCAGGGCTCCTGCCAGCCCCCCTGCTGGGGGTC CGGGATACGGCATGTCCCCCGTCCAGGGCTCCTGCCAGCCCCCCTGCTGG GGGTCCGGGATACGGCATGTCCCCCGTCCAGGGCTCCTGCCAGC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0003 a0008c0013t0003	a0008c0013t0003g0037 a0008c0013t0003g0037	1	133	0.0075	443	c.351 others(460): Show c.351+9824_351+9825insGCTGGCAGGAGCCCTGGACGGGGGACAT GCCGTATCCCGGACCCCCAGCAGGGGGGCTGGCAGGAGCCCTGGACGGGG GACATGCCGTATCCCGGACCCCCAGCAGGGGGGCTGGCAGGAGCCCTGGA CGGGGGACATGCCGTATCCCAGACCCCCAGCAGGGGGCTGGCAGGAGCCC TGGACGGGGGACGTGCCATATCCCGGACCCCCAGCAGGGGGGCTGGCAGG AGCCCTGGACGGGGGACATGCCGTATCCCGGACCCCCAGCAGGGGGGCTG GCAGGAGCCCTGGACGGGGGACATGCCGTATCCCAGACCCCCAGCAGGGG GCTGGCAGGAGCCCTGGACGGGGGACGTGCCATATCCCGGACCCCCAGCA GGGGGGCTGGCAGGAGCCCTGGGCAGGGCGGGGGACATGCCATATCCCGG ACCCCCAGCAGGGGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SHANK1_chr19_50654255_50724802	50678958	A A	ATGGGGAG others(436): Show ATGGGGAGGGGTCAGGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTC AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAG GGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGG GTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGTGATG GGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG GGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAG GGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGA TGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0065 a0002c0001t0065	a0002c0001t0065g0042 a0002c0001t0065g0042	1	316	0.0032	443	c.257 others(462): Show c.2578-6845_2578-6844insCACCCTGACCCCTCCCCATCACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC TGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC ATCATCTTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACA CCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCC TTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACA CCCCTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50678976	G G	GTGGGGAG others(436): Show GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG GGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAG GGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGA TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03098.hp2 HG03486.hp2 others(4): Show HG01981.hp2 HG03098.hp2 HG03486.hp2 NA18906.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0009 a0002c0001 a0003c0006 a0001c0009 a0002c0001 a0003c0006	a0001c0009t0004 a0002c0001t0007 a0002c0001t0008 others(3): Show a0001c0009t0004 a0002c0001t0007 a0002c0001t0008 a0002c0001t0011 a0002c0001t0024 a0003c0006t0001	a0001c0009t0004g0249 a0002c0001t0007g0221 a0002c0001t0008g0288 others(4): Show a0001c0009t0004g0249 a0002c0001t0007g0221 a0002c0001t0008g0288 a0002c0001t0011g0232 a0002c0001t0011g0233 a0002c0001t0024g0247 a0003c0006t0001g0248	7	316	0.0222	443	c.257 others(462): Show c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCT TGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC ATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACC CCTCTCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAA TGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCT GACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAC ACCCTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(436): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCG GGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGG GGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGG AGGCGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGG GGGGAGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGG GGGGCGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAG GCGGGAGGGGAAGGAGGCGGGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	222	0.0045	443	c.914 others(462): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCC GCCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCC TCCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCGCC TCCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCC CCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTC CCGCCCCTCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCC CCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCG CCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCC TCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTC CCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC37A1_chr21_42508852_42586426	42570282	T T	TTGCCATG others(436): Show TTGCCATGTCATGTGACACATGGCCTGGTTCTGAGAAGCGGCGGGCAGGG TGGCCGTTGCCATGTCATGCGACACACGGCCTGGTTCTGAGAAGCGGCAG GCAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAG CGGCGGGCAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGGTTCT GAGAAGCGGCGGGCAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCT GGTTCTGAGAAGCGGCAGGCAGGGTGGCTGTTGCCATGTGACACACGGCC TGGTTCTGAGAAGCGGCGGGCAGGGTGGCCGTTGCCATGTCATGTGACAC ACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCATTGCCATGTGACA CATGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCATTGCCA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0026 a0001c0001t0006g0026	1	356	0.0028	443	c.142 others(462): Show c.1423+1846_1423+1847insCCATGTCATGTGACACATGGCCTGGT TCTGAGAAGCGGCGGGCAGGGTGGCCGTTGCCATGTCATGCGACACACGG CCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCCGTTGCCATGTCATGTGAC ACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCGTTGCCATGTCA TGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCGTTGCC ATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCAGGCAGGGTGGCT GTTGCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGC CGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAG GGTGGCCATTGCCATGTGACACATGGCCTGGTTCTGAGAAGCGGCGGGCA GGGTGGCCATTGCCATG	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar

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