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
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(384): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAG TCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01123.hp1 HG01168.hp2 others(1): Show HG00099.hp2 HG01123.hp1 HG01168.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0087 a0001c0001t0001g0140 a0001c0001t0001g0002 a0001c0001t0001g0087 a0001c0001t0001g0140	4	167	0.0240	391	c.-42 others(402): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTG GGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(384): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGT CGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGT TGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01257.hp1 HG01258.hp1 HG00558.hp1 HG01257.hp1 HG01258.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0001 a0005c0011t0001 a0001c0001t0001 a0005c0011t0001	a0001c0001t0001g0004 a0001c0001t0001g0019 a0005c0011t0001g0019 a0001c0001t0001g0004 a0001c0001t0001g0019 a0005c0011t0001g0019	3	166	0.0181	391	c.-42 others(402): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGG GGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634611	C C	CCCTTCCT others(384): Show CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCCTTT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	192	0.0052	391	c.105 others(408): Show c.105-1295_105-1294insTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCCCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(384): Show ATATATATATAGTATATATATAGTATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATAGTATATATATATAGTATATATATAGTATATATATAGTATA TATATATAGTATATATATAGTATATATATATAGTGTATATATATAGTATA TATATATAGTGTATATATATAGTATATATATAGTATATATATAGTATATA TAGTATATATGTATATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATAGTATATATATATAGTATATATATAG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0176 a0001c0002t0001g0176	1	248	0.0040	391	c.355 others(410): Show c.355-25607_355-25606insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATATAGTGTATATATATAGTA TATATATATAGTGTATATATATAGTATATATATAGTATATATATAGTATA TATAGTATATATGTATATATATATAGTATATATATAGTATATATATATAG TATATATATAGTATATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATAGTATATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DYM_chr18_49031387_49465645	49440818	T T	TTATATAA others(384): Show TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATTTATATAAATACATTAT ATTTTATATATTTATATAAATACATTATATTTTATATATTTATATAAATA CATTATATTTTATATAATATATTATATATAATATATATAATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0169 a0001c0001t0006g0169	1	205	0.0049	391	c.-53 others(410): Show c.-53-10372_-53-10371insTATTATATATATTATATATAATATAT TATATAAAATATAATGTATTTATATAAATATATAAAATATAATGTATTTA TATAAATATATAAAATATAATGTATTTATATAAATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440818	T T	TTATATAA others(384): Show TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATTTATATAAATACATTAT ATTTTATATATTTATATAAATACATTATATTTTATATATTTATATAAATA TATTATATTTTATATAATATATTATATATAATATATATAATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01261.hp1 HG01981.hp1 others(9): Show HG01192.hp2 HG01261.hp1 HG01981.hp1 HG02129.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp2 NA18946.hp2 NA18953.hp1 NA18979.hp2 NA18984.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0002t0001	a0001c0001t0002g0159 a0001c0001t0002g0174 a0001c0001t0002g0200 others(9): Show a0001c0001t0002g0159 a0001c0001t0002g0174 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0220 a0001c0001t0003g0189 a0001c0001t0012g0161 a0001c0002t0001g0150	12	216	0.0556	391	c.-53 others(410): Show c.-53-10372_-53-10371insTATTATATATATTATATATAATATAT TATATAAAATATAATATATTTATATAAATATATAAAATATAATGTATTTA TATAAATATATAAAATATAATGTATTTATATAAATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EEF1A2_chr20_63483014_63504083	63486940	C C	CTCCCCCC others(384): Show CTCCCCCCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCAC CCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACC CTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCT GCATCCTCAGGGAACCTGCCCACCTTCCACCCCCACCCTCCTCCGCATCC TCAGGGAGCCTGCCCACCCTCCACCCAGACCCTCCTCTGCATCCTCAGGG AAGCTGCCCAACCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGC CCATCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCT CCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0120 a0001c0007t0007g0120	1	52	0.0192	391	c.13 others(402): Show c.1357_*1358insAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGG TGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTG GAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGTTG GGCAGCTTCCCTGAGGATGCAGAGGAGGGTCTGGGTGGAGGGTGGGCAGG CTCCCTGAGGATGCGGAGGAGGGTGGGGGTGGAAGGTGGGCAGGTTCCCT GAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATG CAGAGGAGGGTCAGGGTGGAGGGTGGGCAGCTTCCCTGAGGATGCGGAGG AGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATACAGAGGAGGGTCG GGGGGGA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1073		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63487068	T T	TCCTCCAC others(384): Show TCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCA CCCCACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCCCCCCCGA CCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCT CCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCAT CCTCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGG GAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTG CCCACCTTCCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCC TCCACCCAGACCCTCCTCTGCATCCTCAGGGAAGCTGCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	349	0.0029	391	c.12 others(402): Show c.1229_*1230insTTGGGCAGCTTCCCTGAGGATGCAGAGGAGGGTC TGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTGGGGTGG AAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGG GCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGTT CCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGCTTCCCTGA GGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATACA GAGGAGGGTCGGGGGGGGAGGGTGGGCAGGTTCCCTGAGGATACAGAGGA GGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGG GTGGAGG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		945		chr20	TogoVar
EGFR_chr7_55014017_55216628	55167217	C C	CGGTGGTG others(384): Show CGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGA TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGA TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGA TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGA TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03579.hp2 HG03041.hp1 HG03579.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0029 a0001c0004 a0004c0029	a0001c0004t0025 a0004c0029t0040 a0001c0004t0025 a0004c0029t0040	a0001c0004t0025g0015 a0004c0029t0040g0207 a0001c0004t0025g0015 a0004c0029t0040g0207	2	104	0.0192	391	c.188 others(410): Show c.1880+1825_1880+1826insTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAGTGGTGGCGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGFR_chr7_55014017_55216628	55167542	G G	GTGGTGGT others(384): Show GTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACA GTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACA ATGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGCG GTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTG GTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTG GTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTG GTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTG GTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0028 a0001c0012t0028	a0001c0012t0028g0167 a0001c0012t0028g0167	1	245	0.0041	391	c.188 others(410): Show c.1880+2195_1880+2196insGGAGTCACAATGGTGGTGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EVA1C_chr21_32407706_32520387	32477756	G G	GCCCTCAC others(384): Show GCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCC CCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTAC GCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCC CCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTAC GCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCC CCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCC CGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGC CCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	282	0.0035	391	c.634 others(408): Show c.634+9913_634+9914insACCTCCCCCGTACGCCCTCCCCTCCCCC GTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCC CTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCC GTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCC CTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCT CCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCC CTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCT CCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGT ACGCCCTCCCCTC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
GAL3ST2_chr2_241771822_241809287	241805253	C C	CCCCCTCA others(384): Show CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCC AGGAACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTC CCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCTCCCTCCCTCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCTCAGCCCAGGA ACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	302	0.0033	391	c.10 others(402): Show c.1087_*1088insCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACGT CTGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCTC CCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTC CCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCTCAGCCCAGGGACCT CTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CCTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		967		chr2	TogoVar
GALNT17_chr7_71127144_71718599	71679927	T T	TCCTCCCT others(384): Show TCCTCCCTCTCTCCCTTCCTCCTCCCGCTCTCTCTTTCTCCTCCTGCTCT CTCTTCCTCCCTCCCTCTCTCCTTCCTCCCTCCCTCTCTCTCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCTCTTCCCTTCCTCCCTCCCTCTCTCCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCCGCTCTC TCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTC CTTCCTCCCTCCCTCTCTCCTTCCTCCCTCCCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0016 a0001c0001t0018g0016	1	70	0.0143	391	c.150 others(410): Show c.1500+2642_1500+2643insTCCCGCTCTCTCTTTCTCCTCCTGCT CTCTCTTCCTCCCTCCCTCTCTCCTTCCTCCCTCCCTCTCTCTCTTCCTC CCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTC TCCCTTCCTCCCTCCCTCTCTTCCCTTCCTCCCTCCCTCTCTCCTTCCTC CCTCCCTCTCTCCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCCGCTC TCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTC CCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTC TCCTTCCTCCCTCCCTCTCTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCC TCTCTCCCTTCCTCC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT9_chr12_132191372_132334589	132281776	G G	GCAGCAAG others(384): Show GCAGCAAGCCCAGGCCTGGGGGTCCCCGATCCCACAGAGGAGGAATCAGC TCCACTACAGCAAGCCCAGGCCTGGGGGTCCCCGATCCCACAGAGGAGGA ATCAGCTCCACTACAGCAAGCCCAGGCCTGGGGGTCCCACATCCCACAGA GGAGGAATCAGCTCCACTACAGCAAGGCCAGGCCTGGGGGTCCCCGATCC CACAGAGGAGGAATCAGCTCCACTACAGCAAGCCCAGGCCTGGGGTCCCA CATCCCACAGAGGAGGAATCAGCTCCACTGCAGCAAGGCCAGGCCTGGGG GTCCCCGATCCCACAGAGGAGGAATCAGCTCCACTACAGCAAGCCCAGGC CTGGGGGTCCCCGATCCCACAGAGGAGGAATCAGCTCCACTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03225.hp1 HG02109.hp1 HG03225.hp1	a0001 a0001	a0001c0016 a0001c0019 a0001c0016 a0001c0019	a0001c0016t0001 a0001c0019t0003 a0001c0016t0001 a0001c0019t0003	a0001c0016t0001g0147 a0001c0019t0003g0145 a0001c0016t0001g0147 a0001c0019t0003g0145	2	150	0.0133	391	c.419 others(408): Show c.419+4473_419+4474insTAGTGGAGCTGATTCCTCCTCTGTGGGA TCGGGGACCCCCAGGCCTGGGCTTGCTGTAGTGGAGCTGATTCCTCCTCT GTGGGATCGGGGACCCCCAGGCCTGGCCTTGCTGCAGTGGAGCTGATTCC TCCTCTGTGGGATGTGGGACCCCAGGCCTGGGCTTGCTGTAGTGGAGCTG ATTCCTCCTCTGTGGGATCGGGGACCCCCAGGCCTGGCCTTGCTGTAGTG GAGCTGATTCCTCCTCTGTGGGATGTGGGACCCCCAGGCCTGGGCTTGCT GTAGTGGAGCTGATTCCTCCTCTGTGGGATCGGGGACCCCCAGGCCTGGG CTTGCTGTAGTGGAGCTGATTCCTCCTCTGTGGGATCGGGGACCCCCAGG CCTGGGCTTGCTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	2/10			chr12	TogoVar
HCN2_chr19_584881_622159	602255	C C	CCCTCCTC others(384): Show CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTG GACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0001 a0001c0041t0001	a0001c0041t0001g0019 a0001c0041t0001g0019	1	392	0.0026	391	c.633 others(408): Show c.633-1257_633-1256insTCCTCCTCTCCTGCGTGGACGCCCCACT TCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCG TGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(384): Show TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19065.hp2 NA19005.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0143 a0001c0001t0002g0146 a0001c0001t0001g0143 a0001c0001t0002g0146	2	213	0.0094	391	c.633 others(408): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(384): Show TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG02056.hp1 others(3): Show HG00408.hp2 HG00558.hp1 HG02056.hp1 NA18940.hp2 NA18944.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0002t0021	a0001c0001t0001g0147 a0001c0001t0002g0114 a0001c0002t0003g0009 others(3): Show a0001c0001t0001g0147 a0001c0001t0002g0114 a0001c0002t0003g0009 a0001c0002t0003g0093 a0001c0002t0003g0145 a0001c0002t0021g0144	6	217	0.0276	391	c.633 others(408): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HOMEZ_chr14_23267422_23291132	23280705	T T	TATATTTT others(384): Show TATATTTTATTTTATTTTATTTTTGTTTATTTTATTTTTGTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0117 a0001c0003t0001g0117	1	351	0.0028	391	c.41- others(406): Show c.41-3519_41-3518insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATACAAAAATAAAATAAACAAAAATAAAATA AAATAAAATAT	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
IFNAR1_chr21_33319970_33364864	33322606	T T	TACATGGA others(384): Show TACATGGAATATATGTATATGGAATATATACATGGAATATATGTATATGG AATATATACATGGAATATGTGTATATGGAATATATACATGGAATATATGT ATATGGAATATATACATGGAATATATATATGGAATATATACATGGAATAT ATATATGGAATATATACATGGAATATATATATATGGAATATATACATGGA ATATATATATATGGAATATATACATGGAATATATATATATAGAATATATA CATGGAATATATATATGGAATATATACATGGAACATATATATATGGAATA TATACATGGAACATATACATGGAATATATACATGGAACATATACATGGAA TATATACATGGAACATATACATGGAATATATATATATGGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0212 a0002c0002t0002g0212	1	308	0.0032	391	c.-24 others(402): Show c.-2450_-2449insACATGGAATATATGTATATGGAATATATACATGG AATATATGTATATGGAATATATACATGGAATATGTGTATATGGAATATAT ACATGGAATATATGTATATGGAATATATACATGGAATATATATATGGAAT ATATACATGGAATATATATATGGAATATATACATGGAATATATATATATG GAATATATACATGGAATATATATATATGGAATATATACATGGAATATATA TATATAGAATATATACATGGAATATATATATGGAATATATACATGGAACA TATATATATGGAATATATACATGGAACATATACATGGAATATATACATGG AACATATACATGGAATATATACATGGAACATATACATGGAATATATATAT ATGGAAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2363		chr21	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540815	T T	TATACATA others(384): Show TATACATATATTATATATCATATATAATATATACATATATTATATATCAT ATATAATATATACATATATTATATATCATATATAATATATGCATATATTA TATATCATATATAATATATGCATATATTATATATCATATATAATATATAC ATATATTATATATCATATATAATATATGTATATATTATATATCATATATA ATATATGTATATATTATATATCATATATAATATATGTATATATTATATAT CATATATAATATATGTATATATTATATATCATATATAATATATGTATATA TTATATATCATATATAATATATGTATATATTATATATCATATATAATATA TACATATATTATATATCATATATTATATATGATATATAATAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	51	0.0196	391	c.772 others(410): Show c.772+56445_772+56446insCATATATAATATATACATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATGCAT ATATTATATATCATATATAATATATGCATATATTATATATCATATATAAT ATATACATATATTATATATCATATATAATATATGTATATATTATATATCA TATATAATATATGTATATATTATATATCATATATAATATATGTATATATT ATATATCATATATAATATATGTATATATTATATATCATATATAATATATG TATATATTATATATCATATATAATATATGTATATATTATATATCATATAT AATATATACATATATTATATATCATATATTATATATGATATATAATACAT ACATATATTATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540815	T T	TATACATA others(384): Show TATACATATATTATATATCATATATAATATATACATATATTATATATCAT ATATAATATATACATATATTATATATCATATATAATATATGTATATATTA TATATCATATATAATATATACATATATTATATATCATATATAATATATAC ATATATTATATATCATATATAATATATACATATATTATATATCATATATA ATATATGTATATATTATATATCATATATAATATATACATATATTATATAT CATATATAATATATGTATATATTATATATCATATATAATATATGTATATA TTATATATCATATATAATATATACATATATTATATATCATATATAATATA TACATATATTATATATCATATATTATATATGATATATAATAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	51	0.0196	391	c.772 others(410): Show c.772+56445_772+56446insCATATATAATATATACATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATGTAT ATATTATATATCATATATAATATATACATATATTATATATCATATATAAT ATATACATATATTATATATCATATATAATATATACATATATTATATATCA TATATAATATATGTATATATTATATATCATATATAATATATACATATATT ATATATCATATATAATATATGTATATATTATATATCATATATAATATATG TATATATTATATATCATATATAATATATACATATATTATATATCATATAT AATATATACATATATTATATATCATATATTATATATGATATATAATACAT ACATATATTATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(384): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAGG GAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGA GGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGAGGA AGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	154	0.0065	391	c.290 others(410): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCC CTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCC CTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTC CCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCC TTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCCTTCC TCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
LHPP_chr10_124456823_124619141	124507796	G G	GGGGGGGG others(384): Show GGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGT GGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTG GGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTG GAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0199 a0001c0001t0003g0199	1	184	0.0054	391	c.625 others(408): Show c.625-9356_625-9355insGGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGTGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507825	A A	AGGGTAGA others(384): Show AGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAG GGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGTG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	39	0.0256	391	c.625 others(408): Show c.625-9321_625-9320insTATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTT CAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTC AGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCA GGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAG GTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGG TGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGT GGGGGGGTAGGGAGGATTTCAGGTCGGTGGGGTAGACAGGATTTCAGGTG GGGGGGTAGGGAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF2_chr22_50497949_50512702	50504140	A A	ACCCCCCC others(384): Show ACCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC CCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC CCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCC CCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0028	1	88	0.0114	391	c.171 others(408): Show c.1718+199_1718+200insGGGGTGTGGAGCCCGGGGTGCAGGGGTA AGGCCGGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACTGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGG GCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGC ACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCA CCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCAC CGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCG GGGGGGGGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
MADCAM1_chr19_491486_510343	491882	A A	AGGAGACA others(384): Show AGGAGACAGCCCCAGGCACCGCCTCTCCCCTGGGCGGAGCCAGCCCCAAG CCCCCTCCCCTGGGCGGAGACAGCCCCAGGCACCGCCTCTCCCCTGGGCG GAGCCAGCCCCAAGCCCCCCTCCCCTGGGCGGAGACAGCCCCAGGCACCG CCTCTCCCCTGGGCGGAGCCAGCCCCAAGCCCCCCCTCCCCTGGGAGGAG ACAGCCCCAGGCACCGCCTCTCTCCTGGGCGGAGCCAGCCCCAAGCCCCC CCTCCCCTGGGCGGAGACAGCCCCAGGCACCGCCTCTCCCCTGGGCGGAG CCAGCCCCAAGCCCCCCCTCCCCTGGGAGGAGACAGCCCCAGGCACCGCC TCTCCCCTGGGCGGAGCCAGCCCCAAGCCCCCTCCCCTGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0033 a0004c0033	a0004c0033t0001 a0004c0033t0001	a0004c0033t0001g0066 a0004c0033t0001g0066	1	47	0.0213	391	c.-46 others(402): Show c.-4618_-4617insGGAGACAGCCCCAGGCACCGCCTCTCCCCTGGGC GGAGCCAGCCCCAAGCCCCCTCCCCTGGGCGGAGACAGCCCCAGGCACCG CCTCTCCCCTGGGCGGAGCCAGCCCCAAGCCCCCCTCCCCTGGGCGGAGA CAGCCCCAGGCACCGCCTCTCCCCTGGGCGGAGCCAGCCCCAAGCCCCCC CTCCCCTGGGAGGAGACAGCCCCAGGCACCGCCTCTCTCCTGGGCGGAGC CAGCCCCAAGCCCCCCCTCCCCTGGGCGGAGACAGCCCCAGGCACCGCCT CTCCCCTGGGCGGAGCCAGCCCCAAGCCCCCCCTCCCCTGGGAGGAGACA GCCCCAGGCACCGCCTCTCCCCTGGGCGGAGCCAGCCCCAAGCCCCCTCC CCTGGGC	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding		4603		chr19	TogoVar
MAN2B2_chr4_6570189_6628362	6579259	C C	CCACCACC others(384): Show CCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCAC CACCATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCATCACCACCATCACCACCACCACCATCACCACCACCATCACCATCAC CACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCA CCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCAC CACCATCACCACCACCACCACCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	308	0.0032	391	c.391 others(406): Show c.391+772_391+773insCCATCACCACCACCACCCTTCACCACCATC ACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCAC CACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCATC ACCATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCAC CATCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCAT CACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7061838	T T	TATAATAT others(384): Show TATAATATATAATTATATTATATATTATATAATTATAATATAATTATATA ATATAATTATATTATATATAATTATATTAAACATATTATATAATATATAA TTATATTATATATTATATAATCTATAATTATATTATATATTATATAATCT ATAATTATATTATATATTATATAATATATAATTATGTTATATATTATAAT ACATTTAATATAATTATATTATAGATTATAATCTATAATATAATTATATT AATAGTATTATAATATATAATATATTATATATAATTATATTATAACTTAT TATATATAATTATATTATAGATCATAATCTATAATATAATTATATATAAT ATGTTATAATATATAATTATATTCTATATATAATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	283	0.0035	391	c.-32 others(402): Show c.-3234_-3233insTATATATAATTATATATAGAATATAATTATATAT TATAACATATTATATATAATTATATTATAGATTATGATCTATAATATAAT TATATATAATAAGTTATAATATAATTATATATAATATATTATATATTATA ATACTATTAATATAATTATATTATAGATTATAATCTATAATATAATTATA TTAAATGTATTATAATATATAACATAATTATATATTATATAATATATAAT ATAATTATAGATTATATAATATATAATATAATTATAGATTATATAATATA TAATATAATTATATATTATATAATATGTTTAATATAATTATATATAATAT AATTATATTATATAATTATATTATAATTATATAATATATAATATAATTAT ATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3163		chr19	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(384): Show TTGTATATATTATATATAATATATACAATATTGTATATATTATATATAAT ATATACAATATTGTATATATTATATATAATATATACAATATTTATATATA TTATATATATTATATATAATATATACATATTATATATTATATATAATATA TATACATATTATATATTATATATATAATATATATACATATTATATATTAT ATATAATATATATACATATTATATATTATATATATAATATATATACATAT TATATATTATATATAATATATATACATATTATATATAATATATATACATA TTATATTATATATAATATATATACATATTATATATAATATATAATATATT ACATATTATATATAATATATAATATATTACATATTATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	38	0.0263	391	c.262 others(410): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATACA ATATTGTATATATTATATATAATATATACAATATTGTATATATTATATAT AATATATACAATATTTATATATATTATATATATTATATATAATATATACA TATTATATATTATATATAATATATATACATATTATATATTATATATATAA TATATATACATATTATATATTATATATAATATATATACATATTATATATT ATATATATAATATATATACATATTATATATTATATATAATATATATACAT ATTATATATAATATATATACATATTATATTATATATAATATATATACATA TTATATATAATATATAATATATTACATATTATATATAATATATAATATAT TACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSLN_chr16_755734_773862	767614	T T	TGGAGGGG others(384): Show TGGAGGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGG GCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAG GGGCGTGTGGAGGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAG GGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGG GTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGA GGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGG AGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGG GGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0023 a0023	a0023c0040 a0023c0040	a0023c0040t0001 a0023c0040t0001	a0023c0040t0001g0168 a0023c0040t0001g0168	1	285	0.0035	391	c.159 others(408): Show c.1596+146_1596+147insAGGGGGGGCGCGTGGAGGAGGGGCGCGT GGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGT GTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGGGGGGCGCGTGGGGGGGG CGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGA GGAGGGGCGCATGGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGT GGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGC GTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGG CGCGTGGGGGTGTGTGGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGG TGCGTGGAGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(384): Show TTTATAATATATAATTTATAATTATAATTTATAATATATAATTTATAATT ATAAATTATAAATTATAATATATAATTTATATATTATAAATTTATAATAT ATATATATAATTTATATATTATAATTTATAATATATAATTTATAATTATA AGTTATATATTATAATTTTTAATTATAAGTTATAATATATAATTTATAAT TATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATAAGTT ATAATATATAACTTATAAGTTATAATATATAACTTATAAGTTATAATATA TAACTTATAATTATAAGTTATAATATATAACTTATAAGTTATAATATATA ACTTATAATTATAAGTTATAATATATAACTTATAATTATAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02293.hp1 HG01175.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0059 a0001c0001t0001g0036 a0001c0001t0001g0059	2	9	0.2222	391	c.710 others(408): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAATTATAAGTTATATATTATAACTTATAAGTTATATATTATAACTT ATAATTATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTAT AAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAAGTTATA TATTATAACTTATAATTATAAATTATATATTATAACTTATAATTAAAAAT TATAATATATAACTTATAATTATAAATTATATATTATAAATTATAATATA TAAATTATATATATATATTATAAATTTATAATATATAAATTATATATTAT AATTTATAATTTATAATTATAAATTATATATTATAAATTATAATTATAAA TTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(384): Show TTTATAATATATAATTTATAATTATAATTTATAATATATAATTTATAATT ATAAATTATAAATTATAATATATAATTTATATATTATAAATTTATAATAT ATATATATAATTTATATATTATAATTTATAATATATAATTTATAATTATA AGTTATATATTATAATTTTTAATTATAAGTTATAATATATAATTTATAAT TATAAGTTATAATATATAATTTATAATTATAAGTTATAATATATAACTTA TAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATAAGTTAT AATATATAACTTATAATTATAAGTTATAATATATAACTTATAAGTTATAA TATATAACTTATAAGTTATAATATATAACTTATAATTATAAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	8	0.1250	391	c.710 others(408): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAATT ATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAAGTTA TATATTATAACTTATAAGTTATATATTATAACTTATAATTATAAATTATA TATTATAACTTATAATTATAAATTATATATTATAACTTATAATTAAAAAT TATAATATATAACTTATAATTATAAATTATATATTATAAATTATAATATA TAAATTATATATATATATTATAAATTTATAATATATAAATTATATATTAT AATTTATAATTTATAATTATAAATTATATATTATAAATTATAATTATAAA TTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MYDGF_chr19_4652545_4675342	4663164	G G	GTCCTCAT others(384): Show GTCCTCATTCTACACAGCCTCCAATCTACCCTCCCCATCCACCCCGTCCT CATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTA CAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTC CAATCTACCCTCCCCACCCGTCCTGTCCTCATTCTACACAGTCTCCAATC TACCCTCCCCACCCCATCCTCATTCTACAGCCTCCAATCTGTGCCCTCTC CACCCATCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCC GTCCTGTCCACATTCTACACAGTCTCCAATCTACCCTCCCCACCCCATCC TCATTCTACAGCCTCCAATCTGTGCCCTCTCCACCCATCCCA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0098 a0002c0002t0002g0098	1	406	0.0025	391	c.287 others(408): Show c.287+1711_287+1712insTGGGATGGGTGGAGAGGGCACAGATTGG AGGCTGTAGAATGAGGATGGGGTGGGGAGGGTAGATTGGAGACTGTGTAG AATGTGGACAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGA GGATGGGATGGGTGGAGAGGGCACAGATTGGAGGCTGTAGAATGAGGATG GGGTGGGGAGGGTAGATTGGAGACTGTGTAGAATGAGGACAGGACGGGTG GGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGG TAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTG GAGGCTGTAGAATGAGGACGGGGTGGATGGGGAGGGTAGATTGGAGGCTG TGTAGAATGAGGA	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYT1_chr20_64159452_64247253	64175627	T T	TCTGCAGC others(384): Show TCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0092 a0001c0002t0002g0092	1	118	0.0085	391	c.-99 others(410): Show c.-99+10890_-99+10891insGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCAPH2_chr22_50503224_50529780	50504140	A A	ACCCCCCC others(384): Show ACCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC CCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC CCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCC CCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	86	0.0116	391	c.-41 others(402): Show c.-4198_-4197insCCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTG CACCCCGGGCTCCACACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCA CCCCGGGCTCCACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCAC CCCGGGCTCCACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACC CCGGGCTCCACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCC CGGGCTCCACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCC GGGCTCCACACCCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGC TCCACACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCC ACACCCC	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		4083		chr22	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(384): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAG TCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01123.hp2 others(2): Show HG00099.hp2 HG00639.hp1 HG01123.hp2 HG01168.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0003t0001g0001 a0001c0001t0001g0001 a0001c0003t0001g0001	5	161	0.0311	391	c.91+ others(404): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(384): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGT CGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGT TGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	158	0.0127	391	c.91+ others(404): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(384): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATAATATATATTATATAT ATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTATA TATATAATATATATAATATATATTATATATATAAAGTATATATATAATAT ATATAATATATATTATATATATAAAGTATATATATAATATATATAATATA TATTATATATATAAAGTATATATATAATATATATAATATATATTATATAT AAAGTATATATATAATATATATTATATATAAAGTATATATATAATATATA TTATATATATATAAAATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02896.hp1 HG02897.hp1 others(1): Show HG02071.hp2 HG02896.hp1 HG02897.hp1 NA18950.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0019 a0002c0004t0001g0020 a0002c0004t0001g0222 others(1): Show a0002c0004t0001g0019 a0002c0004t0001g0020 a0002c0004t0001g0222 a0002c0004t0001g0223	4	5	0.8000	391	c.730 others(408): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATATTATATATATACT TTATATATATAATATATATTATATATATTATATATATACTTTATATATAT AATATATATTATATATATTATATATATACTTTATATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATAATATATATTATATATATTATATATATACT TTATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(384): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTA TATATATAATATATATAATATATATTATATATATAAAGTATATATATAAT ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATAATATATATTATATAT AAAGTATATATATAATATATATTATATATAAAGTATATATATAATATATA TTATATATATATAAAATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0009 a0002c0005t0009	a0002c0005t0009g0004 a0002c0005t0009g0004	1	2	0.5000	391	c.730 others(408): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATATATTATATATATACTTTATATATATAATATATATTAT ATATATTATATATATACTTTATATATATAATATATATTATATATATTATA TATATACTTTATATATATAATATATATTATATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NXN_chr17_794310_984776	952622	T T	TGGGGGGG others(384): Show TGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCA CGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGA ACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGA CAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGG GGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGAC GGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCG GCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGAC CAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	156	0.0064	391	c.360 others(410): Show c.360+26696_360+26697insCACAGTGTGACCGTCCGTGGTACCTG CCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGAC CGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCC CCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCT GTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGG TTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCC GTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTG ACTCCAGCCCCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR3A2_chr17_3271177_3391308	3327954	C C	CTTGTAGT others(384): Show CTTGTAGTATAGTATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGTATAG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0230 a0002c0002t0005g0230	1	268	0.0037	391	c.-27 others(410): Show c.-279+8074_-279+8075insCTATACTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATACTATACTACAA	OR3A2	ENSG00000221882.5	transcript	ENST00000573901.3	protein_coding	2/4			chr17	TogoVar
PAM16_chr16_4335251_4356321	4344665	A A	AGGGGATT others(384): Show AGGGGATTGTGTGAGGGGGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAG AGGAGGGGGTTCTGTGAGAGGAGGGGATTGTGTGAGAGAAGGGGACTGTG TGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGAC TGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGG GGGTTCTGTGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGA GGGGGTTCTGTGAGAGAAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAG AGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTG TGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGGGGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0194 a0002c0002t0001g0194	1	337	0.0030	391	c.4-1 others(404): Show c.4-1375_4-1374insCCCCCACACAATCCCCTCCTCTCACGGAACCC CCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGA ACCCCCTCCTCTCACGGAACCCCCTCCTCTCACACAGTCCCCTTCTCTCA CAGAACCCCCTCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCTCCT CACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTC CTCTCACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGAACCC CCTCCTCTCACACAGTCCCCTTCTCTCACACAATCCCCTCCTCTCACAGA ACCCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCCCCCTCAC ACAATCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PARP10_chr8_143972158_143991460	143981469	G G	GTGGTGAT others(384): Show GTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGA TGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGGTGATGGTGGTGAC GACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGACGACAGTGAGTGGT GAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTG GTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGG TGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGT GAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAA GGTGGTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0213 a0002c0002t0003g0213	1	200	0.0050	391	c.255 others(410): Show c.2556+1462_2556+1463insTCACCTTCACCACTCACTGTCGTCAC CACCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACC ATCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCA CCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTG TCGTCACCACCATCACCACCACCTTCACCACTCACTGTCGTCACCACCAT CATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCACCACCACC TTCACCACTCACTGTCGTCACCACCATCACCACCATCACCTTCACCACTC ACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCA CCACCATCATCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PATL1_chr11_59631716_59674037	59645321	A A	AGGGCAGA others(384): Show AGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGCAGGGGTGGCCGGGCAGAGGCGCCCCCCACTTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGCCGACCCCCCCCCCCTCCCTCCCGGACAG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGTGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGC TGACCCCCCCACATCCCTCCCTCCCGGACGGGGCGGCTGGCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp2 HG02572.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0046 a0001c0001t0010g0047 a0001c0001t0001g0046 a0001c0001t0010g0047	2	4	0.5000	391	c.189 others(410): Show c.1894-2287_1894-2286insGGCCAGCCGCCCCGTCCGGGAGGGAG GGATGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGGGGGGGGGGTCGGCCCCC CGCCCGGCCAGCCACCCCGTCCGGGAAGTGGGGGGCGCCTCTGCCCGGCC ACCCCTGCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCC	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	15/18			chr11	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(384): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCACCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCC CTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTC CCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	118	0.0085	391	c.35 others(402): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCACCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCT GCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCG CCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCC ACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCC TCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(384): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTCCAC CTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCC CTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTC CCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG04199.hp2 NA20752.hp1 HG02055.hp1 HG04199.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0208 a0001c0001t0001g0224 a0001c0001t0001g0178 a0001c0001t0001g0208 a0001c0001t0001g0224	3	120	0.0250	391	c.35 others(402): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCT GCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCG CCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCC ACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCC TCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(384): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCC CTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTC CCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00544.hp2 others(51): Show HG00099.hp2 HG00140.hp2 HG00544.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01261.hp1 HG01934.hp1 HG01943.hp2 HG02015.hp1 HG02074.hp2 HG02135.hp2 HG02148.hp2 HG02559.hp1 HG02602.hp1 HG02698.hp1 HG03017.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18747.hp2 NA18957.hp2 NA18962.hp2 NA18966.hp1 NA18971.hp1 NA18990.hp1 NA18992.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19011.hp2 NA19056.hp1 NA19066.hp2 NA19083.hp2 NA19085.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0016 a0001c0001t0001g0176 a0001c0001t0001g0177 others(50): Show a0001c0001t0001g0016 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0324 a0001c0002t0001g0100 a0001c0002t0001g0135 a0002c0003t0001g0289 a0002c0003t0001g0296	54	171	0.3158	391	c.35 others(402): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCT GCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCG CCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCC ACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCC TCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(384): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCC TCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCCTCACCTC CCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 NA18982.hp1 HG01167.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	119	0.0168	391	c.35 others(402): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCT GCACCTCCCCCCATCTTTTACCTCCCCCTCACCCTGCACCTCCCTCTCGC CCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCA CGCCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCC TCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(384): Show TATATATAATTATATATAATTATATATAATTATATAATTATATATAATTA TATATAATTATTTATTATATATAATTATATATTATTTATTATATAATTAT ATAATTATATATTATTTATTATATATTATATAATTATATAATTATATATT ATTTATTATATAATATATAATTATATATTATTTATTATATAATTATATAT TATTTATTACATAAGTATATATTATTTATTACATAAGTATATATCACTTA TTATATAATTGCATATAATTATTTATTATATAATTGCATATAATTATTTA TTATATAATTGCATATAATTATTTATTATATAATTGTATATAGTTATTTA TTATATAATTGTATATAGTTATTTATTATATAATTCTATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19030.hp2 HG02615.hp1 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0001 a0001c0006t0020 a0001c0005t0001 a0001c0006t0020	a0001c0005t0001g0082 a0001c0006t0020g0074 a0001c0005t0001g0082 a0001c0006t0020g0074	2	26	0.0769	391	c.862 others(408): Show c.862+3417_862+3418insATATAATTATATATAATTATATATAATT ATATAATTATATATAATTATATATAATTATTTATTATATATAATTATATA TTATTTATTATATAATTATATAATTATATATTATTTATTATATATTATAT AATTATATAATTATATATTATTTATTATATAATATATAATTATATATTAT TTATTATATAATTATATATTATTTATTACATAAGTATATATTATTTATTA CATAAGTATATATCACTTATTATATAATTGCATATAATTATTTATTATAT AATTGCATATAATTATTTATTATATAATTGCATATAATTATTTATTATAT AATTGTATATAGTTATTTATTATATAATTGTATATAGTTATTTATTATAT AATTCTATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPARA_chr22_46145526_46248755	46244025	T T	TAAAAACT others(384): Show TAAAAACTCTTTATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCATGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0035 a0002c0002t0022g0035	1	198	0.0051	391	c.86 others(402): Show c.8645_*8646insAAAAACTCTTTATTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAAAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCATGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding		271		chr22	TogoVar

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