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
ADAMTS14_chr10_70667506_70767441	70688894	A A	AGGGAGAG others(440): Show AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGGGAGAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0004 a0001c0027t0004	a0001c0027t0004g0124 a0001c0027t0004g0124	1	354	0.0028	447	c.523 others(466): Show c.523-13405_523-13404insGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGA GGGGAGAGGGGAGAGGGAGAG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(440): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGATGGGATGGAGGGAGGGAAGGAA AGGAGGGATGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGG AGGGATGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGG GATGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAT GGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGA AAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0106 a0001c0002t0012g0106	1	228	0.0044	447	c.259 others(468): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCC CATCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCAT CCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCATCCCATCCC TCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTC CTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCTCC CATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(440): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGATGGGATGGAGGGAGGGAAGGAA AGGAGGGATGGGAGGGAGGGAGGGATGGGATGGAGGGAGGGAAGGAAAGG AGGGATGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGG GATGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAT GGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGA AAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0053 a0001c0005t0053	a0001c0005t0053g0222 a0001c0005t0053g0222	1	228	0.0044	447	c.259 others(468): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCC CATCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCATCCCAT CCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCATCCCATCCC TCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTC CTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCTCC CATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(440): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCGTGA GACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGAC CAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAA AGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGC TGACCCCCCGCGAGACCAAAGGCTGACCCCCCCCCCCGAGACCAAAGGCT GACCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGA CCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02965.hp2 NA21309.hp1 HG02818.hp2 HG02965.hp2 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0098 a0004c0099 a0001c0001 a0003c0098 a0004c0099	a0001c0001t0001 a0003c0098t0004 a0004c0099t0001 a0001c0001t0001 a0003c0098t0004 a0004c0099t0001	a0001c0001t0001g0049 a0003c0098t0004g0272 a0004c0099t0001g0226 a0001c0001t0001g0049 a0003c0098t0004g0272 a0004c0099t0001g0226	3	276	0.0109	447	c.535 others(464): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCT TTGGTCTCGGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGGTCAGCC TTTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTG GTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCT CGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCG GGGGGGGTCAGCCTTTGGTCTCACGGGGGGGTCAGCCTTTGGTCTCGGGG GCGGTCAGCCTTTGGTCTCGGGGGGTGTCAGCCTTTGGTCTCGGAGGGGG TCAGCCTTTGGTCTCGCGGGGGCGTCAGCCGTTGGTCTCGGGGGGGGTCA GCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(440): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTC CTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCCTCCTCCTCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	188	0.0053	447	c.-1- others(462): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGAGGAG GAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGAAGAAGAAGAAGAA GGAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(440): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTGTATATTATAT ATTATATATATTATATACATATAATATATATTCTCATATATATTATATAT ACTCATATATATAATATATATTCTCATATATATATATTATATATTCTCAT ATATATAATATATATATTCTCATATATAATATATATTCTCATATATATAA TATATACTCATATATTATATATATTCTCATATATTATATATATACTCATA TATAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATAAT ATATATTCTCATATATAATATATATTCTCATATATGACATATTATATATA TTCTCATATATATTATATATTCTCATATATAATATATATTCTCATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01109.hp1 others(12): Show HG00738.hp1 HG01074.hp1 HG01109.hp1 HG01884.hp1 HG02145.hp2 HG02559.hp2 HG02572.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG03195.hp1 NA20129.hp2 NA20300.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0003 a0001c0001t0015 a0001c0001t0036 others(3): Show a0001c0001t0003 a0001c0001t0015 a0001c0001t0036 a0001c0001t0042 a0001c0001t0091 a0009c0008t0015	a0001c0001t0003g0000 a0001c0001t0015g0000 a0001c0001t0036g0000 others(3): Show a0001c0001t0003g0000 a0001c0001t0015g0000 a0001c0001t0036g0000 a0001c0001t0042g0000 a0001c0001t0091g0000 a0009c0008t0015g0000	15	416	0.0361	447	c.10 others(460): Show c.10504_*10505insTATATGAGAATATATATTATATATGAGAATAT ATAATATATATGAGAATATATATAATATGTCATATATGAGAATATATATT ATATATGAGAATATATATTATATAAATGAGAAAATATATATTATATATTA GAATATATACATTATATATGAGTATATATATAATATATGAGAATATATAT AATATATGAGTATATATTATATATATGAGAATATATATTATATATGAGAA TATATATATTATATATATGAGAATATATAATATATATATATGAGAATATA TATTATATATATGAGTATATATAATATATATGAGAATATATATTATATGT ATATAATATATATAATATATAATATACAATATATAATATATAATATATAC ATATATACATATAATATATAAACATATAATATATAATATATACATGTAAT ATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(440): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG TCGACGAGTGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGTGGGAGGGG AGGGGGAGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGA GGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGG AAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGG AGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	350	0.0029	447	c.248 others(462): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCGCCTCCCCCTCCCC CTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCC TCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCT CCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTC CCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCACTCGTCGACTCCCCTCCCCCTCCCCCTCCCCTCCCACCCA TCCACTCCCCTCTCCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCCCTC CCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCTCC CCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCACCTC CTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANO2_chr12_5557655_5950259	5638471	A A	ATGATCTG others(440): Show ATGATCTGCCCGCCTTGGCCTCCCAGCACTGATTCTTATAACTACCATGC AAGATATGCCTTTAATAGGTGAGATTTCATGATGATTTAGGATTTGAACC CTGCTCCATGGTTCCAAAGTCTACAATCCCATCCTGACATTAGAACCCAG GTTTTCCAGCACTACATCTAGTACTATTTCCACCACTTGTGGTTACATTA TTGATCTTTTTCTTTTTCTTTTTTTGTTTGAGATAGAGTTTCACTCTTGT TGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACCGCAACCTCTGC CTCCCTGGTTCAAGCAATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAAT TACAGGCATGCGCCACCACGCCTGGCTACTTTTGTATTTTTAGTAGAGAT GGGGTTTCTCCATGTTGGTCAGGCTGGTCTCCAACTCTCGACCTCAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	162	0.0062	447	c.162 others(466): Show c.1621-3125_1621-3124insCTTGAGGTCGAGAGTTGGAGACCAGC CTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAGTAGCCA GGCGTGGTGGCGCATGCCTGTAATTCCAGCTACTTGGGAGGCTGAAGCAG GAGAATTGCTTGAACCAGGGAGGCAGAGGTTGCGGTGAGCTGAGATCGCA CCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTATCTCAAACAAA AAAAGAAAAAGAAAAAGATCAATAATGTAACCACAAGTGGTGGAAATAGT ACTAGATGTAGTGCTGGAAAACCTGGGTTCTAATGTCAGGATGGGATTGT AGACTTTGGAACCATGGAGCAGGGTTCAAATCCTAAATCATCATGAAATC TCACCTATTAAAGGCATATCTTGCATGGTAGTTATAAGAATCAGTGCTGG GAGGCCAAGGCGGGCAGATCA	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	15/24			chr12	TogoVar
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(440): Show TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGGT GTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTC CCGCGGGTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTAT CTGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGC TTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAAGG GTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGTGTGGGGGGC TCCCGTGGGTATCTGGGGGCGTCCGCGGGGGGTGTGGGGGCTCCCGTGGG TATCTGGGGGCTTCCGCGGGGGGTGTGGGGGCGTCCGCGGGTATCTGG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	286	0.0035	447	c.539 others(462): Show c.539+384_539+385insCCAGATACCCGCGGACGCCCCCACACCCCC CGCGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCCGCGGACGC CCCCAGATACCCACGGGAGCCCCCCACACCCTGCGGAAGCCCCCAGATAC CCGCGGACGCCCCCACACCCTTGCAGAAGCCCCCAGATACCCGCGGACGC CCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCC CCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGAC GCCCCCAGGTACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGAT ACCCGCGGACGCCCCCACACCCCCCGCGGACGCCCCCAGATACCCGCGGG AGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACA CCCCCGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(440): Show TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTG TGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCC CGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATC TGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCT TCCGCGGGGGTGTGGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGG GGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGG GCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGG GTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	286	0.0035	447	c.539 others(462): Show c.539+384_539+385insCCAGATACCCGCGGACGCCCCCACACCCCC GCGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCC CCAGATACCCACGGGAGCCCCCCACACCCCTGCGGAAGCCCCCAGATACC CGCGGACGCCCCCACACCCCCTGCAGAAGCCCCCAGATACCCGCGGACGC CCCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACC CCCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGA CGCCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGA TACCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGG AGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACA CCCCCGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431597	T T	TTCTGCAG others(440): Show TTCTGCAGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGG GTGTGGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGC TCCCCGTGGGTATCTGGGGGCTTCCGCGGGGGGTGTGGGGGCGTCCGCGG GTATCTGGGGGGGCTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGG GGGCGTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGC GGGGATGTGGGGGCGTCCGCGGGGTATCTGGGGGCGTCTGCGGGGGTGTG GGGGCTCCCGCGGGTATCTGGGGGCGTCTGCAGGGGTGTGGGGGCTCCCG TGGGTATCTGGGGGGGCATCTGCGGGGGTGTGGGGGCGTCCGCGGGTATC TGGGGGCTTCCGCGGGGGTGTGGGGGCACCCGCGGGTATCTGGGGGCG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0030 a0004c0004t0001g0030	1	286	0.0035	447	c.539 others(460): Show c.539+96_539+97insCGCCCCCAGATACCCGCGGGTGCCCCCACACC CCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGATG CCCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCAGACGCCCCCAGA TACCCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCCGCGG ACGCCCCCACATCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCAC ACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCAG AAGCCCCCCCAGATACCCGCGGACGCCCCCACACCCCCCGCGGAAGCCCC CAGATACCCACGGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCC ACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCC CCACACCCCTGCAGA	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1824978	A A	ACCCCCAC others(440): Show ACCCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCT GTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCCGCA CTCCACCTGTCCCCCCCGCACCCCACCTGTCCCCCCCGCACCCCACCTGT CCCTCCGCACCCCACCTGTCCCCCCCGCACCCCACCTGTCCCCTCGCACC CCACCTGCCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC CCCGCACCCCACCTGTTCACCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTG CACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCCGCACCCCACCTGTCCCCTCGCA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0325 a0001c0005t0001g0325	1	363	0.0028	447	c.-48 others(462): Show c.-48+869_-48+870insCACCTGTCCTCCCCACACCCCACCTGTTTA CTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCA CCTGTCCCCCCCGCACTCCACCTGTCCCCCCCGCACCCCACCTGTCCCCC CCGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCCGCACCCCAC CTGTCCCCTCGCACCCCACCTGCCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCCGCACCCCACCTGTTCACCCCGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACC CCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCCGCACCCCAC CTGTCCCCTCGCACCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCDC3_chr10_12891625_13006713	12935261	C C	CAGGCTGG others(440): Show CAGGCTGGAGTGCAGTGGCACAATTTCAGCTCACTGCAACCTCCATCTCC TGGGTCCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTACA GGCATGAACCACTATGCCAGGCCTTGTTTTTTGATCCATTATGGCAATCT ATCTTTTAATTGGTACATTTAGACGACTGAAATTTCAAAGTGACTATTGG TATAGTTGTATTAGTATTTCATATCGGTTACTGTTTTCTATTCATTACCC TGGTTCTCTATTCCTATTTTTTACTTCCTCCTGTGGTTTTAATTGAGCAT TTTATATTATTTCATTTTCTCTTTCTTAGCATATCAATTATAACTTCAAC TCTTTTTTATTGGTTGTCCTAGAGTTTACAGTATACACATACAACCAATC CAAGTACATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0383 a0001c0001t0027g0383	1	392	0.0026	447	c.550 others(466): Show c.550-37029_550-36583dupCGGCAACAGAGCAAGACTCCGTCTCA AAAAAAAAAAAAAATGTACTTGGATTGGTTGTATGTGTATACTGTAAACT CTAGGACAACCAATAAAAAAGAGTTGAAGTTATAATTGATATGCTAAGAA AGAGAAAATGAAATAATATAAAATGCTCAATTAAAACCACAGGAGGAAGT AAAAAATAGGAATAGAGAACCAGGGTAATGAATAGAAAACAGTAACCGAT ATGAAATACTAATACAACTATACCAATAGTCACTTTGAAATTTCAGTCGT CTAAATGTACCAATTAAAAGATAGATTGCCATAATGGATCAAAAAACAAG GCCTGGCATAGTGGTTCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG ACAGGAGAATCACTTGGACCCAGGAGATGGAGGTTGCAGTGAGCTGAAAT TGTGCCACTGCACTCCAGCCT	CCDC3	ENSG00000151468.11	transcript	ENST00000378825.5	protein_coding	2/2			chr10	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(440): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTC TCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	256	0.0039	447	c.-45 others(468): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCTCCC CTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(440): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	256	0.0039	447	c.-45 others(468): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(440): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	256	0.0039	447	c.-45 others(468): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(440): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	256	0.0039	447	c.-45 others(468): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278752	C C	CCCCCCTC others(440): Show CCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0187 a0001c0001t0007g0187	1	256	0.0039	447	c.-45 others(468): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH23_chr10_71391920_71820947	71420476	A A	ATGATGAT others(440): Show ATGATGATGGTGATGGTGATGATGATGGTGATAGTGATGATGATGGTGAT AGTGATGATGACGGTAATGGTGATGGTGATGATGATGATGGTGATGGTAA TGGTGATGATGATGATGATGGTGATGGTAATGGTGATGGTGATGATGATG ATGATGGTGATGATGATGGTGATGATGATGGTGATGGTGATGATGATGAT GATGGTGATGGTAATGGTGATGATGATGATGATGGTGATGATGGTGATGG TGATGATGATGATGGTGATGGTGATGGTGATGGTGATGATGATGATGGTG ATGATGATGGTGATGGTGATGATGATGATGGTGATGGTAATGGTGATAGT GATGATGATGATGGTGATGATGATGGTGATGGTGATGGTAATGGTGATGG TGATGATGATTGTGATGATGATGGTGATGGTGATGGTGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00597.hp1 others(43): Show HG00140.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01074.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG02165.hp2 HG02258.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03516.hp1 HG03710.hp2 HG03927.hp2 NA18966.hp2 NA18981.hp1 NA18994.hp2 NA18999.hp2 NA19002.hp2 NA19005.hp1 NA19085.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 others(28): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0013 a0014 a0016 a0017 a0020 a0023 a0024 a0029 a0031 a0033 a0035 a0060 a0067 a0068 a0069 a0080 a0084 a0093 a0094 a0095 a0097 a0102 a0104 a0106	a0001c0001 a0001c0064 a0001c0102 others(38): Show a0001c0001 a0001c0064 a0001c0102 a0002c0014 a0002c0063 a0002c0071 a0002c0072 a0002c0078 a0002c0096 a0002c0126 a0003c0002 a0003c0100 a0004c0037 a0006c0045 a0008c0068 a0009c0013 a0013c0009 a0014c0030 a0016c0007 a0017c0086 a0020c0136 a0023c0008 a0024c0029 a0029c0053 a0031c0058 a0031c0095 a0033c0006 a0035c0125 a0060c0031 a0067c0109 a0068c0052 a0069c0118 a0080c0094 a0084c0091 a0093c0069 a0094c0088 a0095c0085 a0097c0082 a0102c0075 a0104c0131 a0106c0132	a0001c0001t0001 a0001c0001t0011 a0001c0064t0012 others(40): Show a0001c0001t0001 a0001c0001t0011 a0001c0064t0012 a0001c0102t0001 a0002c0014t0007 a0002c0014t0031 a0002c0063t0001 a0002c0071t0003 a0002c0072t0026 a0002c0078t0004 a0002c0096t0001 a0002c0126t0003 a0003c0002t0001 a0003c0100t0001 a0004c0037t0005 a0006c0045t0003 a0008c0068t0035 a0009c0013t0016 a0013c0009t0003 a0014c0030t0001 a0016c0007t0007 a0017c0086t0006 a0020c0136t0001 a0023c0008t0003 a0024c0029t0003 a0029c0053t0001 a0031c0058t0001 a0031c0095t0001 a0033c0006t0003 a0035c0125t0001 a0060c0031t0007 a0067c0109t0005 a0068c0052t0021 a0069c0118t0007 a0080c0094t0001 a0084c0091t0011 a0093c0069t0001 a0094c0088t0001 a0095c0085t0001 a0097c0082t0001 a0102c0075t0030 a0104c0131t0001 a0106c0132t0001	a0001c0001t0001g0156 a0001c0001t0001g0191 a0001c0001t0011g0013 others(43): Show a0001c0001t0001g0156 a0001c0001t0001g0191 a0001c0001t0011g0013 a0001c0064t0012g0040 a0001c0102t0001g0192 a0002c0014t0007g0143 a0002c0014t0031g0029 a0002c0063t0001g0151 a0002c0071t0003g0149 a0002c0072t0026g0089 a0002c0078t0004g0061 a0002c0096t0001g0193 a0002c0126t0003g0137 a0003c0002t0001g0132 a0003c0002t0001g0134 a0003c0100t0001g0152 a0004c0037t0005g0155 a0006c0045t0003g0109 a0008c0068t0035g0107 a0009c0013t0016g0157 a0013c0009t0003g0142 a0014c0030t0001g0145 a0016c0007t0007g0165 a0017c0086t0006g0065 a0020c0136t0001g0113 a0023c0008t0003g0133 a0023c0008t0003g0136 a0024c0029t0003g0196 a0029c0053t0001g0131 a0031c0058t0001g0153 a0031c0095t0001g0185 a0033c0006t0003g0167 a0035c0125t0001g0169 a0060c0031t0007g0139 a0067c0109t0005g0114 a0068c0052t0021g0041 a0069c0118t0007g0115 a0080c0094t0001g0161 a0084c0091t0011g0012 a0093c0069t0001g0163 a0094c0088t0001g0159 a0095c0085t0001g0168 a0097c0082t0001g0166 a0102c0075t0030g0010 a0104c0131t0001g0150 a0106c0132t0001g0144	46	196	0.2347	447	c.-5- others(464): Show c.-5-19346_-5-19345insATGGTGATGGTGATGATGATGGTGATAG TGATGATGATGGTGATAGTGATGATGACGGTAATGGTGATGGTGATGATG ATGATGGTGATGGTAATGGTGATGATGATGATGATGGTGATGGTAATGGT GATGGTGATGATGATGATGATGGTGATGATGATGGTGATGATGATGGTGA TGGTGATGATGATGATGATGGTGATGGTAATGGTGATGATGATGATGATG GTGATGATGGTGATGGTGATGATGATGATGGTGATGGTGATGGTGATGGT GATGATGATGATGGTGATGATGATGGTGATGGTGATGATGATGATGGTGA TGGTAATGGTGATAGTGATGATGATGATGGTGATGATGATGGTGATGGTG ATGGTAATGGTGATGGTGATGATGATTGTGATGATGATGGTGATGGTGAT GGTGATGGTGATGGTGATG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH23_chr10_71391920_71820947	71420476	A A	ATGATGAT others(440): Show ATGATGATGGTGATGGTGATGATGATGGTGATAGTGATGATGATGGTGAT AGTGATGATGATGGTAATGGTGATGGTGATGATGATGATGGTGATGGTAA TGGTGATGATGATGATGATGATGGTGATGGTAATGGTGATGGTGATGATG ATGATGATGGTGATGATGATGGTGATGATGATGGTGATGATGATGGTGAT GATGATGATGATGGTGATGGTAATGGTGATGATGATGATGATGGTGATGA TGGTGATGGTGATGATGATGATGGTGATGGTAATGGTGATGGTGATGATG ATGATGGTGATGATGATGGTGATGGTGATGATGATGATGGTGATGGTAAT GGTGATGGTGATGATGATGGTGATGATGATGGTGATGGTGATGGTAATGG TGATGGTGATGATGATTGTGATGATGATGGTGATGGTGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0103 a0103	a0103c0023 a0103c0023	a0103c0023t0007 a0103c0023t0007	a0103c0023t0007g0174 a0103c0023t0007g0174	1	196	0.0051	447	c.-5- others(464): Show c.-5-19346_-5-19345insATGGTGATGGTGATGATGATGGTGATAG TGATGATGATGGTGATAGTGATGATGATGGTAATGGTGATGGTGATGATG ATGATGGTGATGGTAATGGTGATGATGATGATGATGATGGTGATGGTAAT GGTGATGGTGATGATGATGATGATGGTGATGATGATGGTGATGATGATGG TGATGATGATGGTGATGATGATGATGATGGTGATGGTAATGGTGATGATG ATGATGATGGTGATGATGGTGATGGTGATGATGATGATGGTGATGGTAAT GGTGATGGTGATGATGATGATGGTGATGATGATGGTGATGGTGATGATGA TGATGGTGATGGTAATGGTGATGGTGATGATGATGGTGATGATGATGGTG ATGGTGATGGTAATGGTGATGGTGATGATGATTGTGATGATGATGGTGAT GGTGATGGTGATGGTGATG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(440): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCC TCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTC TTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTT CCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCT TCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCC TTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCC TCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	354	0.0028	447	c.69 others(458): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCC TCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTC CTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTT CTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTT CTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCC CTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACC CCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTC CTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(440): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCC TCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG01192.hp2 HG01069.hp2 HG01070.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	3	354	0.0085	447	c.69 others(458): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACC CCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTC CTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CNOT3_chr19_54132762_54160681	54133778	T T	TCTCCACC others(440): Show TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCA CCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTC CCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTC TCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCC TCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0136 a0001c0013t0001g0136	1	223	0.0045	447	c.-42 others(458): Show c.-4266_-4265insCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTC TCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCTCCCTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3983		chr19	TogoVar
CNTNAP2_chr7_146111801_148425998	146712385	C C	CTATATAG others(440): Show CTATATAGTATACATATCTTATGTATACTATATAGTATACATATCTTATG TATACTATATAGTATACATATCTTATGTATACTATATAGTATACATATCT TATGTATACTATATAGTATACATATCTTATGTATACTATATAGTATACAT ATCTTATGTATACTATATAGTATACATATCTTATGTATACTATATAGTAT ACATATCTTATGTATACTATATAGTATACATATCTTATGTATACTATATA GTATACATATCTTATGTATACTATATAGTATACATATCTTATGTATACTA TATAGTATACATATCTTATGTATACTATATAGTATACATATCTTATGTAT ACTATATAGTATACATATCTTATGTATACTATATAGTATACATATCTTAT GTATACTATATAGTATACATATCTTATGTATACTATATAGTATACATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0016 a0001c0011t0016	a0001c0011t0016g0019 a0001c0011t0016g0019	1	40	0.0250	447	c.98- others(464): Show c.98-61880_98-61879insGTATACATATCTTATGTATACTATATAG TATACATATCTTATGTATACTATATAGTATACATATCTTATGTATACTAT ATAGTATACATATCTTATGTATACTATATAGTATACATATCTTATGTATA CTATATAGTATACATATCTTATGTATACTATATAGTATACATATCTTATG TATACTATATAGTATACATATCTTATGTATACTATATAGTATACATATCT TATGTATACTATATAGTATACATATCTTATGTATACTATATAGTATACAT ATCTTATGTATACTATATAGTATACATATCTTATGTATACTATATAGTAT ACATATCTTATGTATACTATATAGTATACATATCTTATGTATACTATATA GTATACATATCTTATGTATACTATATAGTATACATATCTTATGTATACTA TATAGTATACATATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTATAAC others(440): Show ACTATAACCATCACCACCATCACTGCTATAATCACCACCACCACCACCAT CACTATAACCATCACCACCATCACCACTATAACCACCACTACCACCACCA CCATTATAACCATCACCACCACCACTATAACCACCATCATCATCACCACC ACTACCACTACTACAACCATTACCACCATCACTGCTATAACCACCACCAC CACCACCACCACTATAACCACCATCATCATCACCACCACTACCACTACTA TAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTATAACC ACCACCACCACCACCACCACCACTATAATCATTACCACTATAACCACCAC TACCACCACTACCACTATGATAACCATCACCAACACCACTATAACCACCA TCATCATCACCACCACTACCACTACTATAACCATTACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp1 HG02622.hp1 others(1): Show HG01109.hp1 HG02572.hp1 HG02622.hp1 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0003c0015	a0001c0001t0013 a0001c0003t0006 a0001c0004t0048 others(1): Show a0001c0001t0013 a0001c0003t0006 a0001c0004t0048 a0003c0015t0012	a0001c0001t0013g0178 a0001c0003t0006g0180 a0001c0004t0048g0217 others(1): Show a0001c0001t0013g0178 a0001c0003t0006g0180 a0001c0004t0048g0217 a0003c0015t0012g0109	4	230	0.0174	447	c.724 others(466): Show c.724-10675_724-10674insCAGTGATGGTGGTAATGGTTATAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGTTGGTGATGGT TATCATAGTGGTAGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAG TGGTGGTGGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTGGTTATA GCAGTGATGGTGGTGATGGTTATAGTAGTGGTAGTGGTGGTGATGATGAT GGTGGTTATAGTGGTGGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGG TAATGGTTGTAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTG GTGGTGGTGATGGTTATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGT GATGGTGGTGATGGTTATAGTGATGGTGGTGGTGGTGGTGATTATAGCAG TGATGGTGGTGATGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(440): Show ACTGTAACCATCACCACCACCACTGCTATAACCACCACCACCACCACCAC CACTATAACCATCACCACCATCACCACTATAACCACCACTACCACCACCA CCATTATAACCATCACCACCACCACTATAACCACCATCATCATCACCACC ACTACCACTACTATAACCATTACCACCATCACTGCTATAACCACCACCAC CACCACCACCACTATAACCACCATCATCATCACCACCACTACCACTACTA TAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTATAACC ACCACCACCACCACCACCACCACTATAATCATTACCACTATAACCACCAC TACCACCACTACCACTATGATAACCATCACCAACACCACTATAACCACCA TCATCATCACCACCACTACCACTACTATAACCATTACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0128 a0001c0001t0018g0128	1	230	0.0044	447	c.724 others(466): Show c.724-10675_724-10674insCAGTGATGGTGGTAATGGTTATAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGTTGGTGATGGT TATCATAGTGGTAGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAG TGGTGGTGGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTGGTTATA GCAGTGATGGTGGTGATGGTTATAGTAGTGGTAGTGGTGGTGATGATGAT GGTGGTTATAGTGGTGGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGG TAATGGTTATAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTG GTGGTGGTGATGGTTATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGT GATGGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTGGTGGTTATAGCAG TGGTGGTGGTGATGGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251056	T T	TCCCCCAC others(440): Show TCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCCC ACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACACCC CCCACACCACACATCCCCCACACCCCCCACACCACACATCCCCCACACCC CCCACACCACACATCCCCCACACCCCCCACACCACACATCCCCCACACCC CCCACACCACACATCCCCACACCCCCCACACCACACATCCCCCACACCCC CCACACCACACATCCCCCACACCCCCCACACCACACACCCCCCACACCCC CACACCACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACC ACACATCCCCCACACCCCCCACACCACACATCCCCCACACCCCCCACACC ACACATCCCCCACACCCCCCACACCCCCACACCACACATCCCCCACAC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0020 a0001c0003t0005g0020	1	116	0.0086	447	c.207 others(466): Show c.2073+1382_2073+1383insCCCCACACCCCCACACACCCCCCACA CCACACATCCCCCACACCCCCCACACCACACATCCCCCACACCCCCCACA CCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCACAC ATCCCCCACACCCCCCACACCACACATCCCCCACACCCCCCACACCACAC ATCCCCCACACCCCCCACACCACACATCCCCACACCCCCCACACCACACA TCCCCCACACCCCCCACACCACACATCCCCCACACCCCCCACACCACACA CCCCCCACACCCCCACACCACACATCCCCCACACCCCCCACACCCCCACA CACCCCCCACACCACACATCCCCCACACCCCCCACACCACACATCCCCCA CACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACCACAC ATCCCCCACACCCCCCACACC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(440): Show TGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG TGGGGGGGTGAGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	367	0.0027	447	c.-42 others(458): Show c.-4257_-4256insGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTGTGGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DHDH_chr19_48928699_48949969	48940457	C C	CCTTCATC others(440): Show CCTTCATCTTTGACCTTTAACCCCAAGGAGCAAGAGGCAGTTCATGCTTC ATTAAAGTTACATTCAGCCGCAAAAAAAAAAAAACATAACACTACCCCAA AACTTAGTGACTTCAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCTGAGGTGCGCGGATCACTTGAGGCCAGGAGTTCAAGAC CACCCTGGCCAACATGGTAAAACCCTGTCTCTACGAAAAGTGCAAAAAAA ATTAGTTGGGCGTGGTGGTGTGCACCTATAGTCCGGCTACTCTGGAAGGT GAGGTGGGAGGATCAATTGAGCCTGGGAGGCAGAGGTGGCAGTGAACTGA GATGGTGCCACTGCATTCCAGCCTGGGGAACAGAGCCAGACCCTGTCTCC TTTTTGTGGAGAACAGAGTCTCGCTATATTGCCCAGGCAGGTCTCGAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0053 a0012c0018t0001g0053	1	436	0.0023	447	c.619 others(463): Show c.619+759_619+1205dupTCATCTTTGACCTTTAACCCCAAGGAGCA AGAGGCAGTTCATGCTTCATTAAAGTTACATTCAGCCGCAAAAAAAAAAA AACATAACACTACCCCAAAACTTAGTGACTTCAGGCTGGGCATGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGCGCGGATCACTTG AGGCCAGGAGTTCAAGACCACCCTGGCCAACATGGTAAAACCCTGTCTCT ACGAAAAGTGCAAAAAAAATTAGTTGGGCGTGGTGGTGTGCACCTATAGT CCGGCTACTCTGGAAGGTGAGGTGGGAGGATCAATTGAGCCTGGGAGGCA GAGGTGGCAGTGAACTGAGATGGTGCCACTGCATTCCAGCCTGGGGAACA GAGCCAGACCCTGTCTCCTTTTTGTGGAGAACAGAGTCTCGCTATATTGC CCAGGCAGGTCTCGAACT	DHDH	ENSG00000104808.8	transcript	ENST00000221403.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
DLGAP2_chr8_732628_1713476	965719	G G	GTGCACAC others(440): Show GTGCACACGGCACTGTTCACCACACAGGGCTCCTGAGTCTGACCCCTGCG CTGCACACGGCACTGTTCACCACACAGGGCTCCTGAGTCTGACCCCTGCG CTGCACACGGCACTGTTCACCACACAGGGCTCCTGAGCCCAACCCCCGCG TGCACACGGCACTGTTCACCACACAGGGCTCCTGAGTCTGACCCCCGCGT GCACACGGCACTGTTCACCTCACACGGCTCCTGAGTCTGACCCCTGCGCT GCACAAGGCACTGTTCACCTCACACGGCTCCTGAGTCTGACCCCTGCGCT GCACACGGCACTGTTCACCACACAGGGCTCCTGAGTCTGACCCCCGCGTG CACACGGCACTGTTCACCTCACACGGCTCCTGAGTCTGACCCCTGCGCTG CACAAGGCACTGTTCACCTCACACGGCTCCTGAGTCTGACCCCTGCGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0040 a0002c0007t0008g0040	1	40	0.0250	447	c.73+ others(464): Show c.73+57773_73+57774insACACAGGGCTCCTGAGTCTGACCCCTGC GCTGCACACGGCACTGTTCACCACACAGGGCTCCTGAGTCTGACCCCTGC GCTGCACACGGCACTGTTCACCACACAGGGCTCCTGAGCCCAACCCCCGC GTGCACACGGCACTGTTCACCACACAGGGCTCCTGAGTCTGACCCCCGCG TGCACACGGCACTGTTCACCTCACACGGCTCCTGAGTCTGACCCCTGCGC TGCACAAGGCACTGTTCACCTCACACGGCTCCTGAGTCTGACCCCTGCGC TGCACACGGCACTGTTCACCACACAGGGCTCCTGAGTCTGACCCCCGCGT GCACACGGCACTGTTCACCTCACACGGCTCCTGAGTCTGACCCCTGCGCT GCACAAGGCACTGTTCACCTCACACGGCTCCTGAGTCTGACCCCTGCGCT GCACACGGCACTGTTCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32554832	G G	GAGAAGGT others(440): Show GAGAAGGTAAGAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0022 a0002c0005t0001g0022	1	126	0.0079	447	c.199 others(466): Show c.1993-9499_1993-9498insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCTTCTTACCTTCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DOCK8_chr9_209865_470255	400730	T T	TCCACCAC others(440): Show TCCACCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCAC CTCCACCACCACCACCACCTCCACCACCACCACCACCACCTCCACCACCA CCACCTCCACCACCACCACCACCACCACCACCACCACCACCTCCACCACC ACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCACCACCTCCACCACCACCTCCACCACCT CCACCATCACCACCACCACCTCCACCATCACCATCACCACCACCACCGCC ACCACCACCATCACCACCGCCTCCACCACCAGCACTTCCACCATCACCAC CTCCTTCACCATCACCACCACCTCCACCATCACCACCTCCACCACCACCA CCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTCCA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0044 a0044	a0044c0037 a0044c0037	a0044c0037t0003 a0044c0037t0003	a0044c0037t0003g0236 a0044c0037t0003g0236	1	256	0.0039	447	c.323 others(466): Show c.3234+1483_3234+1484insCCTCCACCACCACCACCACCTCCACC ATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCAC CTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCA CCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACC ACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCAC CTCCACCACCTCCACCATCACCACCACCACCTCCACCATCACCATCACCA CCACCACCGCCACCACCACCATCACCACCGCCTCCACCACCAGCACTTCC ACCATCACCACCTCCTTCACCATCACCACCACCTCCACCATCACCACCTC CACCACCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCA CCACCTCCACCACCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89619428	C C	CCCCCCTG others(440): Show CCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCTGCTGCCCTCCCTGC AGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCCTCCCTGC AGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCTGCAGCCCCCTGCCCC CCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAG CTCCATGCCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTC CCCTCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	250	0.0040	447	c.-10 others(466): Show c.-107+5732_-107+5733insTCCATGCCCCCTGCTGCCCTCCCTGC AGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCCTCCCTGC AGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCTGCAGCCCCCTGCCCC CCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAG CTCCATGCCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTC CCCTCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCTGCTCCCCTCCCTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634780	T T	TCCTTTCC others(440): Show TCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTT TCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTT CCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCCTTCC TTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	250	0.0040	447	c.105 others(464): Show c.105-1120_105-1119insCTTCCTTCCCTTTCCCCTTCCTTCTCCT TTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC CTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTT CCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCT CCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCCTTCCTTCCCTTTCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EBF2_chr8_25836725_26050413	26005369	T T	TTATATAT others(440): Show TTATATATATATATATATTATATAAATATATAATATATTATATATAATTA TATTATATATAATATATAATATATAATTATATGTTATATATTATATATAT TATATATTATATATATATTATATATATAATATATATTATATATTAAATTA TATATAATATATATTATATATATAATTTATATATATAAAATATATTATAT ATTATAAATATATATATTTTATATATAAAATATATATTTTATAATATATA ATATAGAAATATATATTATATAATATATAATTATATATAATTATATATTA TATAATATATATTTCTATATTATATATTTATAATGTATAATATATAAATA TATTATAAATATATATTATATAGTATATAATGCATTATAAATATATTATA TTTATATATTATAAATATATTACATATTTATATATTATATATATAATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0129 a0001c0004t0001g0129	1	220	0.0046	447	c.551 others(466): Show c.551+27715_551+27716insTATTATATATATAATATATAAATATG TAATATATTTATAATATATAAATATAATATATTTATAATGCATTATATAC TATATAATATATATTTATAATATATTTATATATTATACATTATAAATATA TAATATAGAAATATATATTATATAATATATAATTATATATAATTATATAT TATATAATATATATTTCTATATTATATATTATAAAATATATATTTTATAT ATAAAATATATATATTTATAATATATAATATATTTTATATATATAAATTA TATATATAATATATATTATATATAATTTAATATATAATATATATTATATA TATAATATATATATAATATATAATATATATAATATATAACATATAATTAT ATATTATATATTATATATAATATAATTATATATAATATATTATATATTTA TATAATATATATATATATATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EHMT1_chr9_137614005_137841127	137716219	T T	TTGGTGTC others(440): Show TTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCAT GGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19080.hp2 NA18982.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0123 a0001c0001t0002g0079 a0001c0001t0002g0123	2	170	0.0118	447	c.86- others(460): Show c.86-379_86-378insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCA TGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGT GGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTG GGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(440): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	384	0.0026	447	c.215 others(464): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGT CGAGGAAGGAGAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGGTGGT others(440): Show GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGAGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	288	0.0035	447	c.190 others(466): Show c.1909+7355_1909+7356insATGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATG GTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
FGFR4_chr5_177081915_177103144	177097099	C C	CCTCCTCC others(440): Show CCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCTCCTCTTCCTCCTCCTCTT CCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCATCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTCCTCCTC TTCCTCCTCCTCCTCTTCCCTCCTTCTCTCTCCTGCTCCTCTTCCTCCTC CTCCTCTTCTCCTTCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCTCC TCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCTCCTCTCCTCTT CCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCCTCCTCCTCCTCC TCTTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTC CTCCTGCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTTCCTCCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0195 a0003c0007t0001g0195	1	372	0.0027	447	c.215 others(464): Show c.2154-191_2154-190insCCTCCTCCTCCTCCTCCTCTTCCTCCTC TCCTCTTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTC CTCCTCTTCCTCCTCCTCCTCTTCCTCCATCCTCCTCCTCCTCCTCTTCC TCCTCCTCCTCTCCTCCTCTTCCTCCTCCTCCTCTTCCCTCCTTCTCTCT CCTGCTCCTCTTCCTCCTCCTCCTCTTCTCCTTCTCCTCCTCCTCCTCTT CCTCCTCCTCCTCTTCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCT CCTCTTCTCCTCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTG CTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTCCTCTTCC TCCTCCTCCTTCCTCCTCT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FLT3_chr13_27998274_28105576	27998958	A A	AATATATA others(440): Show AATATATATATTTATATACATATAAATATATATATTTATATACATATAAA TATATATATTTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATATTTATATACATATAAATATA TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATATTTATATATATATATATTTATATA TATATATTTATATATAAATATATATATATATATAAATATATATATTTATA TACAAATATATATATATTTATATATAAATATATATATTTATATACATATA AATATATATATTTATATATAAATATATATATATATAAATATATGTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0001 a0003c0020t0001	a0003c0020t0001g0240 a0003c0020t0001g0240	1	292	0.0034	447	c.50 others(458): Show c.5093_*5094insATAACATATATTTATATATATATATATTTATATA TAAATATATATATTTATATGTATATAAATATATATATTTATATATAAATA TATATATATTTGTATATAAATATATATATTTATATATATATATATATTTA TATATAAATATATATATATAAATATATATATATATAAATATATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAAATATATATATTTATATGTATATAAATATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATATTTATATGTA TATAAATATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4315		chr13	TogoVar
FLT3_chr13_27998274_28105576	27998958	A A	AATATATA others(440): Show AATATATATATTTATATGCATATAAATATATATATTTATATACATATAAA TATATATATTTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATATTTATATACATATAAATATA TATATTTATATACATATAAATATATATATATTTATATACATATAAATATA TATATATTTATATACATATAAATATATATATATTTATATACATATAAATA TATATATATTTATATACATATAAATATATATATATTTATATATATATATA TATTTATATATAAATATATATATATTTATATATAAATATATATATTTATA TATAAATATATATATATTTATATATAAATATATATATTTATATACATATA AATATATATATTTATATATAAATATATATATATATAAATATATGTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0280 a0006c0009t0001g0280	1	292	0.0034	447	c.50 others(458): Show c.5093_*5094insATAACATATATTTATATATATATATATTTATATA TAAATATATATATTTATATGTATATAAATATATATATTTATATATAAATA TATATATATTTATATATAAATATATATATTTATATATAAATATATATATA TTTATATATAAATATATATATATATATAAATATATATATATTTATATGTA TATAAATATATATATATTTATATGTATATAAATATATATATATTTATATG TATATAAATATATATATATTTATATGTATATAAATATATATATATTTATA TGTATATAAATATATATATTTATATGTATATAAATATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATATTTATATGTA TATAAATATATATATTTATATGTATATAAATATATATATTTATATGCATA TAAATATATATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4315		chr13	TogoVar
GALNT9_chr12_132191372_132334589	132241268	G G	GGGGTCGT others(440): Show GGGGTCGTCCCTATCCCCATTACACACACGCCACACCCCCTTCCCGGGGC CCTCCCTATACCCATTTACACACACCACACACCCTTCCGGGGGCCCTCCC TATACACATTACACACACACCACACCCCCTTCCCGGGGCCCGCCCTATAC CCATTACACACACAACACTCACTTCCTGGGGCCCTCCCTATCCCCATTAC ACACACGCCACACACCCTTCCAGGGGCCGTCCCTATACCCATTACACACA CGCCACACACCCTTCCCAGGGCCGTCCCTATACCCATTACACACACAACA CACACCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACAC CCTTCCAGGGGCCGTCCCTATACCCATTACACACACAACACACATCCTTC CCGGGGCCGTCCCTATACCCATTACACACACAACACACACCCTTCCCA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0067 a0001c0015t0001g0067	1	183	0.0055	447	c.107 others(466): Show c.1077+6641_1077+6642insTGGGAAGGGTGTGTGTTGTGTGTGTA ATGGGTATAGGGACGGCCCCGGGAAGGATGTGTGTTGTGTGTGTAATGGG TATAGGGACGGCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAG GGAGGGCCCCTGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGACG GCCCTGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGACGGCCCC TGGAAGGGTGTGTGGCGTGTGTGTAATGGGGATAGGGAGGGCCCCAGGAA GTGAGTGTTGTGTGTGTAATGGGTATAGGGCGGGCCCCGGGAAGGGGGTG TGGTGTGTGTGTAATGTGTATAGGGAGGGCCCCCGGAAGGGTGTGTGGTG TGTGTAAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTG TAATGGGGATAGGGACGACCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GNA14_chr9_77418079_77653322	77452609	A A	ATGGAAGT others(440): Show ATGGAAGTGTGTCCGTGGTGTGTGTGGAGGTATATGTGTGTGTGCTGTGC ATATGTGTATGTCTGTGGTGTGTATGTGTGTGTGGTGTGCTTATGTGTAT GTGTATGGTGTGTGTGTGGTGTGTGTATGTGTGTGGTGTATGTGTGTGGT GCATGTGTGTGGTTTGTGTCTGTGTGTGTGGCGTGTATGTGTATGTGTGT GGTGTGTTTGTGGTATGTGTGTATGTGTATGGTGTGTATGTGTATGTGTG TGGTGTGTCTGTGTGGTGTGTATGTGTGTGGTGTGTATGTGTGTGTGGTA TGTGTGTACGTGTGGTGTGTATGTGTGTGGTGTGTGTGGTATGTGTGTGT TGTGTGGTGTGTGTGTATGTGTGTGGTGTGTGTGTAGTATCTGTGTATGT GTGGTGTGGTGTGTGGTATGTGTGTAGTGTGTTTATGTATGTGTGGGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	240	0.0042	447	c.310 others(466): Show c.310-18088_310-18087insCCCCACACATACATAAACACACTACA CACATACCACACACCACACCACACATACACAGATACTACACACACACCAC ACACATACACACACACCACACAACACACACATACCACACACACCACACAC ATACACACCACACGTACACACATACCACACACACATACACACCACACACA TACACACCACACAGACACACCACACACATACACATACACACCATACACAT ACACACATACCACAAACACACCACACACATACACATACACGCCACACACA CAGACACAAACCACACACATGCACCACACACATACACCACACACATACAC ACACCACACACACACCATACACATACACATAAGCACACCACACACACATA CACACCACAGACATACACATATGCACAGCACACACACATATACCTCCACA CACACCACGGACACACTTCCA	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GPC5_chr13_91393621_92872237	92347925	T T	TATATATA others(440): Show TATATATATTATATATACTATATATATATTATATATAATATATATAATAT ATATAATATATATAATATATATTATATATATAATATATATATTATATATA ATATATATATTATATATAATATATATAATATATATATTATATATTATATA TATAATATATAATATATATATTATATATAATATATATATAGTATATAATA TATATATTATATATATTATATATATTATATATAATATATATAATATATAA TATATATATTATATATTATATATATATTATATATAATATATATTATATAT AATATATATATTATATATAATATATATATTATATATAATATATATTATAT ATAATATATATATAATATATATATTATATATATTATATATATAATATATA TATTATATATAATATATATATAATATATATATTATATATATAATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0038 a0002c0002t0002g0038	1	42	0.0238	447	c.156 others(470): Show c.1561+202943_1561+202944insTTATATATACTATATATATATT ATATATAATATATATAATATATATAATATATATAATATATATTATATATA TAATATATATATTATATATAATATATATATTATATATAATATATATAATA TATATATTATATATTATATATATAATATATAATATATATATTATATATAA TATATATATAGTATATAATATATATATTATATATATTATATATATTATAT ATAATATATATAATATATAATATATATATTATATATTATATATATATTAT ATATAATATATATTATATATAATATATATATTATATATAATATATATATT ATATATAATATATATTATATATAATATATATATAATATATATATTATATA TATTATATATATAATATATATATTATATATAATATATATATAATATATAT ATTATATATATAATATACATATATA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(440): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATAAATAAATATAAATATATATATTTATATGTATATAT ATAAATATATATATTTATATATATATATTTTATACATATAAATATATATT ATAAATATATATTTATACATATAAATATATATTATAAATATATATATTTA TATTTATTTATATATATAAATATATATATTTATATATATAAATATATATA TTTATATATATAAATATATATATTTATATATAAATATATATATTTATATA TATAAATATATATATTTATATATAAATATATATATTTATATTTATTTCTA TATATAAATATATATATTTATATATATAAATATATATATTTATATTTATA AATATATATATTTATATATATTTATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0008 a0001c0002t0005g0008	1	208	0.0048	447	c.-97 others(464): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATAAATAAATATAAATATATATATTTATATGTAT ATATATAAATATATATATTTATATATATATATTTTATACATATAAATATA TATTATAAATATATATTTATACATATAAATATATATTATAAATATATATA TTTATATTTATTTATATATATAAATATATATATTTATATATATAAATATA TATATTTATATATATAAATATATATATTTATATATAAATATATATATTTA TATATATAAATATATATATTTATATATAAATATATATATTTATATTTATT TCTATATATAAATATATATATTTATATATATAAATATATATATTTATATT TATAAATATATATATTTATATATATTTATATTTATATATATTTATATATA TTTATATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GTPBP6_chrX_299759_323796	321612	A A	AAAAAAAA others(440): Show AAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCC CAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTG ACACCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAAAAA AAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAA AAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGC CTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0011 a0007c0008t0001g0011	1	155	0.0065	447	c.-28 others(458): Show c.-2826_-2825insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTT TTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCC ATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCC CGAGCAGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCT TTCTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATT GCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGC GTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTCT TTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2817		chrX	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(440): Show TCTACCACCACCATCACCACCACCACCACCATCACCTCTACCACCACCAT CACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCA TCACCACCTCTACCACCACCATCACCACCACCACTATCACCACCTCTACC ACCACCATCACCACCACCACCACCATCACCACCTCTACCACCACCATCAC CACCACCACTATCACCACCTCTACCACCACCATCACCACCACCACCACCA TCACCACCTCTACCACCACCATCACCACCACCACTATCACCACCTCTACC ACCACCATCACCACCACCACCACCATCACCACCTCTACCACCACCATCAC CACCACCACTATCACCACCTCTACCACCACCATCACCACCACCACCACCT CTACCACCACCATCACTACTACCACCACCACCACCTCTACCACCATCG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03486.hp1 HG02723.hp1 HG03486.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0006 a0004c0007t0006	a0004c0007t0006g0050 a0004c0007t0006g0051 a0004c0007t0006g0050 a0004c0007t0006g0051	2	134	0.0149	447	c.520 others(468): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGGTGG TGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGATGGTGGTG GTAGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAGTGGTGGTGG TGATGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTAGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAGTGGTGGTGG TGATGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
ICA1_chr7_8108184_8267167	8152587	C C	CCACCACT others(440): Show CCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACC ATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTACATCAC CACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCA CCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTACCACCATC ACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCAC CACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCA CCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATC ACCATCACCTCCACCACCACCACCATCTCCTTCATCACCACTACCCCCAC CACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0091	1	274	0.0037	447	c.804 others(464): Show c.804+4528_804+4529insTTGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGAT GAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGG TGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTG GTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGAT GAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGG TGGTAGTGGTGGGGGTAGTGGTGATGTAGGAGATAATGGTGGTGGTGGTG GTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGT AGTGCTGGGGGTAGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8152587	C C	CCACCACT others(440): Show CCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACC ATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCATCAC CACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCA CCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTACCACCATC ACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCAC CACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCA CCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATC ACCATCACCTCCACCACCACCACCATCTCCTTCATCACCACTACCCCCAC CACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03209.hp2 HG03579.hp2 others(1): Show HG02145.hp1 HG03209.hp2 HG03579.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0003 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0003 a0001c0002t0005	a0001c0001t0002g0128 a0001c0001t0005g0123 a0001c0002t0003g0106 others(1): Show a0001c0001t0002g0128 a0001c0001t0005g0123 a0001c0002t0003g0106 a0001c0002t0005g0099	4	274	0.0146	447	c.804 others(464): Show c.804+4528_804+4529insTTGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGAT GAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGG TGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTG GTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGAT GAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGG TGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTG GTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGT AGTGCTGGGGGTAGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8152646	A A	ACCACCAC others(440): Show ACCACCACTACCACCACCACCACCATTATCTCCTTCACCACCACTACCCC CACCACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAACCA CCATCTCCTTCATCACCACTACCCCCACCACTACCACCACCACCACCATT ATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCAC CATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCA CCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCACC ACCACTACCCCCACCACTACCACCATCACCTCTTCCACCACTACCACCAT CTCCTCCACCACCACTACCACCACCACCACCATCTCCTTCACCACCACTA CCCCCAGCACTACCACCATCACCTCCTCCACCACTACCACCATCTCCT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0218	1	274	0.0037	447	c.804 others(464): Show c.804+4469_804+4470insAGGAGATGGTGGTAGTGGTGGAGGAGGT GATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGG TGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTG GTAGTGGTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGAGGT GATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGG TTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGG GTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGGGGT AGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGG AGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGATAATGGTG GTGGTGGTGGTAGTGGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar

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