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
TMEM255B_chr13_113754226_113821995	113817328	C C	CGGGACAC others(642): Show CGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCACG GGACACATCCCTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGACAC ATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCC CCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCC CCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCC TCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTC CCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCC CCCACGGGACACATCCCCCCCTCCCCCCACGGGACACATACCCCCTCCCT CCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCC AGGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0097 a0001c0001t0006g0097	1	260	0.0039	649	c.54 others(660): Show c.5425_*5426insGGGACACATCCCCCCTCCCCCCACGGGACACATA CCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACC CCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCC CTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCAC GGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGG GACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCCCCACGGGACACATCCCCCCCTCCCCCCACGGGAC ACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCAC ATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACAT ACCCCCTCCCTCCAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		334		chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113817328	C C	CGGGACAC others(642): Show CGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCACG GGACACATCCCTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGACAC ATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCC CCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCC CCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCC TCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTC CCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCC CCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTC CAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCA GGGGACACATCCCCCCTCCCCCCCACGGGACACATACCCCCTCCCTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0147 a0001c0001t0006g0147	1	260	0.0039	649	c.54 others(660): Show c.5425_*5426insGGGACACATCCCCCCTCCCCCCACGGGACACATA CCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACC CCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCC CTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCAC GGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGG GACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACA CATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACA TCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCCACGGGACACAT ACCCCCTCCCTCCAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		334		chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113817328	C C	CGGGACAC others(642): Show CGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCCAC GGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGG GACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGA CACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGAACA CATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACA TCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATC CCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCC CCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCC CTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGACACATACCCCCT CCCTCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCC CTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCC CCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCC AGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0041 a0001c0001t0075g0041	1	260	0.0039	649	c.54 others(660): Show c.5425_*5426insGGGACACATCCCCCCTCCCCCCACGGGACACATA CCCCCTCCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATAC CCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCC CCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCC TCCCTCCAGGGAACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTC CCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCC TCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCC CACGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCA GGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGG GGACACATACCCCCTCCCTCCAGGGGACACATACCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGAC ACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACAC ATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACAT CCCCCCTCCCTCCAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		334		chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113817361	T T	TACCCCCT others(642): Show TACCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCATGGGACACATA CCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCC CCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCC CTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCT CCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCC CTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCC CCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAG GGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGG GACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGA CACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCA CATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACA TCCCCCCTCCCTCCATGGGACACATCCCCCCTCCCCCCACGGGACACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0123 a0001c0002t0007g0123	1	260	0.0039	649	c.54 others(660): Show c.5458_*5459insACCCCCTCCCCCCACGGGACACATCCCTCCTCCC CCCATGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTC CTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCA GGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCG GGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGG ACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGAC ACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACAC ATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACAT ACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCC CCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCC CCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCC TCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTC CCCCCACGGGACACATCCCCCCTCCCTCCATGGGACACATCCCCCCTCCC CCCACGGGACACATC	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		367		chr13	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(642): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCCCTC CTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCCTCCCTCC CCCTCCCCTATCCCCTCTCCCCCTCCCCTCTCCTCCCTCTCCCCTCCCTC CCCCTCCCCTCTCCCTTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCT CCCCTCTCCCCTCCCCTCTCCCTCTCCCCTCCCCTCTCCCCCTCCCCTCT CCCCTCTCCCCTCTCCCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCT CCCCTCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCTCCCACCTCCCCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCCCCTCTCCTCTCCCCCTC CCCTCTCCCCTCTCCCCTCCCCCTCTCCCCTCCCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0050 a0002c0001t0001g0050	1	114	0.0088	649	c.-25 others(668): Show c.-25-12098_-25-12097insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCCCTCC TCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCCTCCCTCCC CCTCCCCTATCCCCTCTCCCCCTCCCCTCTCCTCCCTCTCCCCTCCCTCC CCCTCCCCTCTCCCTTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTC CCCTCTCCCCTCCCCTCTCCCTCTCCCCTCCCCTCTCCCCCTCCCCTCTC CCCTCTCCCCTCTCCCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTC CCCTCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCTCCCACCTCCCCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCCCCTCTCCTCTCCCCCTCC CCTCTCCCCTCTCCCCTCCCCCTCTCCCCTCCCCTCTCCTCCCTTTCCTT CTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRAF6_chr11_36478769_36515272	36507168	C C	CATACGTA others(642): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAA TGTATAATGTATATATACATGTATTATACATACGTAAATGTATAATGTAT ATATACATTATACATACGTAAATGTATAATGTATAATGTATATATACATT ATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGT ATAATGTATATATACATTATACATACGTAAATGTATAATGTATATATACA TTATACATACGTAAATGTATATATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01099.hp1 HG01106.hp2 others(2): Show HG00323.hp1 HG01099.hp1 HG01106.hp2 HG02080.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0196 others(2): Show a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0222 a0001c0001t0002g0159	5	388	0.0129	649	c.-23 others(666): Show c.-23+2879_-23+2880insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTATACA TTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAAT ACATGTATATATACATTATACATTTACGTATGTATAATACATGTATATAT ACATATATACATTTACGTATGTATAATACATGTATATATACATATATACA TTTACGTATGTATAATACATGTATATATACATATATACATTTACGTATGT ATAATACATGTATATATACATATATACATTTACGTATGTATAATACATGT ATATATACATATATACATTTACGTATGTATAATACATGTATATATACATA TATACATTTACGTATGTATAATACATGTATATATACATATATACATTTAC GTATGTATAATACATGTATATATACATATATACATTTACGTATGTATAAT ACATGTATATATACATATATACATTTACGTATGTATAATACATGTATATA TACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(642): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0030 a0001c0001t0037g0030	1	174	0.0058	649	c.41- others(666): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204100	T T	TATACTAT others(642): Show TATACTATTATATCATCATATGATGATATGATACTATTATATCATCATAT GATGATATGATACTATTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATACTATATCATCATATG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0145 a0001c0001t0011g0145	1	174	0.0058	649	c.41- others(666): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATATGATATACT ATATCATCATATGATGATATGATATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATATACTATATCATCATATGATG ATATGATATACTATATCATCATATGATGATATGATATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATACTATATCATCATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204159	G G	GATACTAT others(642): Show GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATATACTATATCATCATATGATATACTATATCATCATATGATATA CTATATCATCATATGATATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	174	0.0058	649	c.41- others(666): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATATACTATATCATCATATGATATACTATATCATCATATGATATA CTATATCATCATATGATATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL8_chr22_50013575_50063298	50028908	C C	CCCCATCA others(642): Show CCCCATCACACCGTCCTAAAGACCCCACACACCCTCGTAAAGACCCCATC ACACCGTCCTGAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCG TCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAA GACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCC ACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACC CTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCGTCCTAAAGACCCCCACACACCCTCGTAAAGACCC CATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACA CCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCT GAAGACCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACC CCACACACCCTCGTAAAGACCCCCATCACACCGTCCTAAAGACCCCCACA CACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTC GTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0200 a0005c0005t0002g0200	1	224	0.0045	649	c.225 others(668): Show c.2251+1521_2251+1522insTCTTTACGAGTGTGTGTGGGGTCTTC AGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGG TGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGACGGTGTGAT GGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTC TTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGA GGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTG TGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGGT CTTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGG ACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGT GATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGACGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTA CGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGG GGTCTTTAGGACGGTGTGATGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029287	C C	CCTCGTAA others(642): Show CCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTA AAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCC CATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACA CCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCT GAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACC CCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACAC ACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCG TAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGAC CCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATC ACACCGTCCTGAAGACCCCCACACACACTCGTAAAGACCCCATCACACCA TCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAA GACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCA CACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACACACA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0089 a0003c0003t0001g0089	1	224	0.0045	649	c.225 others(668): Show c.2251+1142_2251+1143insTGTGTGTGGGGGTCTTTAGGACGGTG TGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTA CGAGTGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGT GTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGG GGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTT CAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGGTCTTTAGGACGGTGTGA TGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGA GGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTG TGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTC TTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA TGGTGTGATGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
UCN3_chr10_5359966_5379692	5370187	A A	ATACGTGT others(642): Show ATACGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTGTGTGTATGT GTGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATAT GTGTGTATATGTGTGTGTATGTGTGCGTGTATGTGTGTATGTGTGTGTAT ATGTGTGTGTATGTGTGTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGT ATATGTGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGTGTGT ATATGTGTGTGTGTATATGCGTGTGTATATGCGTGTGTATGTGTGTGTAT GTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGTGTGTATGTGTGTGT ATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTTCATGTGT ATGTGTGTAAGGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATA TGTGTGTGTATGTGTGTGTGTATGCGTGTGTATATGTGTGTGTATGTGTG TGTATATGTGTGTGTATATGTGCGTGTATATGTGTGTGTGTATGTGTGTA TGTGTGTGTATACGTGTGTATATGTGTGTGTGTATATGTGCGTGTATATG TGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATGTGTGTATGTGTGTG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18960.hp2 NA18986.hp1 NA18954.hp2 NA18960.hp2 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0391 a0002c0002t0005g0386 a0002c0002t0005g0392 a0002c0002t0002g0391 a0002c0002t0005g0386 a0002c0002t0005g0392	3	468	0.0064	649	c.-6- others(664): Show c.-6-3526_-6-3525insCGTGTGTATGTGTGTGTATATGCGTGTGTA TATGTGTGTGTGTATGTGTGTGTGTGTATATGTGTGTGTATGTGTGTGTG TATATGCGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGCGTGTATG TGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTGTGTGTGTATG TGTGTGTATGTGTGTGTATATGTGTGTGTGTATATGTGTGTGTATGTGTG TGTGTATGTGTGTGTGTATATGTGTGTGTGTATATGCGTGTGTATATGCG TGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATA TGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTA TATGTGTGTTCATGTGTATGTGTGTAAGGTGTGTATGTGTGTGTATGTGT GTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGCGTGTGTAT ATGTGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGCGTGTATATGT GTGTGTGTATGTGTGTATGTGTGTGTATACGTGTGTATATGTGTGTGTGT ATATGTGCGTGTATATGTGTGTGTGTATGTGTGTGTATATGTGTGTGTGT ATGTGTGTATGTGTGTGTA	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
VCX2_chrX_8164944_8176267	8169107	T T	TCCCTCCC others(642): Show TCCCTCCCCCACACACCTCCTCCCTCCTCCCTCCCCCCACAACACCTCAT CCTCCCCCCCTCCCCACACACCCTCCTCCCCACCACCCCACCCTCCCCAC ACACCACCCTTCCTCCCTCCCTCCCCACACACCTCCTCCTCCCTCCCTCC CTCCCCACACACCACCTCTCCACCCTCCCTCCCCACACACACCACCTCCC TCCCTCCCCAACACCTCCCCTCCCTCCCCACACACCACCTCTCCTCCCTC CCACCTCCCCACACCCACACTCCCACCTCCCACCCTCCCCCCACACCCAC CACCCACCCCCACACACCTCCTCTCCTCCCTCCCTCCCCACACACCTCCT CCCCTCCCCTCCCTCCCCACACACCACCCTCCTCCTCCCTCCCTCCCACC CACACACCACCCTCCTCCTCCCTCCCCACACCCACACACCCCTCCTCCCT CCCCACACACCACCTCTTCCTCCCTCCCTCCCCCCCACACTCTCCTCCCT CCCACTCCCTCCCACCTCCTCCCACACCACCCCACCTCTCCTCCCTCCCT CCCTCCCCCACCACCACCTCCCTCCCTCCCTCCCCACACACCACCTCTCC TCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	115	0.0087	649	c.92 others(658): Show c.924_*925insTGGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGTG GTGGTGGGGGAGGGAGGGAGGGAGGAGAGGTGGGGTGGTGTGGGAGGAGG TGGGAGGGAGTGGGAGGGAGGAGAGTGTGGGGGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGAGGGGTGTGTGGGTGTGGGGAGGGAGGAG GAGGGTGGTGTGTGGGTGGGAGGGAGGGAGGAGGAGGGTGGTGTGTGGGG AGGGAGGGGAGGGGAGGAGGTGTGTGGGGAGGGAGGGAGGAGAGGAGGTG TGTGGGGGTGGGTGGTGGGTGTGGGGGGAGGGTGGGAGGTGGGAGTGTGG GTGTGGGGAGGTGGGAGGGAGGAGAGGTGGTGTGTGGGGAGGGAGGGGAG GTGTTGGGGAGGGAGGGAGGTGGTGTGTGTGGGGAGGGAGGGTGGAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAGGAGGTGTGTGGGGAGGGAGGG AGGAAGGGTGGTGTGTGGGGAGGGTGGGGTGGTGGGGAGGAGGGTGTGTG GGGAGGGGGGGAGGATGAGGTGTTGTGGGGGGAGGGAGGAGGGAGGAGGT GTGTGGGGGAGGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		836		chrX	TogoVar
VPS53_chr17_503668_719839	619617	T T	TGTACCAC others(642): Show TGTACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCA CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG TGCACCACCACACCCCACTAATATTTTCCGGGTAGCTGGGACTACAGGCG TGCACCACCACGCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCGT GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGT GTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT GCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA20300.hp2 HG03225.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0096 a0001c0001t0095 a0001c0001t0096	a0001c0001t0095g0145 a0001c0001t0096g0146 a0001c0001t0095g0145 a0001c0001t0096g0146	2	232	0.0086	649	c.111 others(668): Show c.1116+3915_1116+3916insGCGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTATCCGGGA AATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGAAA ATATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGTGGGGTGTGGTGGTAC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VPS53_chr17_503668_719839	619617	T T	TGTACCAC others(642): Show TGTACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCA CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG TGCACCACCACACCCCACTAATATTTTCCGGGTAGCTGGGACTACAGGCG TGCACCACCACGCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCGT GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGT GTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGT GTACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02280.hp2 HG01884.hp2 HG02109.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0106 a0001c0001t0030 a0001c0001t0106	a0001c0001t0030g0119 a0001c0001t0030g0120 a0001c0001t0106g0117 a0001c0001t0030g0119 a0001c0001t0030g0120 a0001c0001t0106g0117	3	232	0.0129	649	c.111 others(668): Show c.1116+3915_1116+3916insGCGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGCGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTATCCGGGA AATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGAAA ATATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGTGGGGTGTGGTGGTAC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VPS53_chr17_503668_719839	619617	T T	TGTACCAC others(642): Show TGTACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCA CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG TGCACCACCACACCCCACTAATATTTTCCGGGTAGCTGGGACTACAGGCG TGCACCACCACGCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCGT GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGT GTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCTT GCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0147 a0001c0001t0098g0147	1	232	0.0043	649	c.111 others(668): Show c.1116+3915_1116+3916insGCGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGCGTGGTGGTGCAAGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTATCCGGGA AATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGAAA ATATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGTGGGGTGTGGTGGTAC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VPS53_chr17_503668_719839	619617	T T	TGTACCAC others(642): Show TGTACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCA CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG TGCACCACCACACCCCACTAATATTTTCCGGGTAGCTGGGACTACAGGCG TGCACCACCACGCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCGT GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC GTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC GTACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC GCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19065.hp2 NA19068.hp2 others(1): Show NA19009.hp2 NA19065.hp2 NA19068.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0110 others(1): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0110 a0001c0001t0123	a0001c0001t0002g0137 a0001c0001t0016g0124 a0001c0001t0110g0127 others(1): Show a0001c0001t0002g0137 a0001c0001t0016g0124 a0001c0001t0110g0127 a0001c0001t0123g0123	4	232	0.0172	649	c.111 others(668): Show c.1116+3915_1116+3916insGCGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGCGTGGTGGTACGCGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTACGCGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTATCCGGGA AATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGAAA ATATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGTGGGGTGTGGTGGTAC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VPS53_chr17_503668_719839	619617	T T	TGTACCAC others(642): Show TGTACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCA CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG TGCACCACCACACCCCACTAATATTTTCCGGGTAGCTGGGACTACAGGCG TGCACCACCACGCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCGT GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGT GTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC GTACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC GCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0129 a0008c0015t0129	a0008c0015t0129g0140 a0008c0015t0129g0140	1	232	0.0043	649	c.111 others(668): Show c.1116+3915_1116+3916insGCGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGCGTGGTGGTACGCGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTATCCGGGA AATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGAAA ATATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGTGGGGTGTGGTGGTAC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VPS53_chr17_503668_719839	619617	T T	TGTACCAC others(642): Show TGTACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCA CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG TGCACCACCACACCCCACTAATATTTTCCGGGTAGCTGGGACTACAGGCG TGCACCACCACGCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCGT GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGT GTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT GCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0114 a0001c0001t0032g0114	1	232	0.0043	649	c.111 others(668): Show c.1116+3915_1116+3916insGCGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTATCCGGGA AATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGAAA ATATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGTGGGGTGTGGTGGTAC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VPS53_chr17_503668_719839	619667	T T	TGTACCAC others(642): Show TGTACCACCACACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCA CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA TGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG TGCACCACCACACCCCGCTAATATTTTCCGGGTAGCTGGGACTACAGGCG TGCACCACCACACCCCACTAATATTTTCCGGGTAGCTGGGACTACAGGCG TGCACCACCACGCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCGT GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCAT GCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC GCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0046 a0001c0001t0084g0046	1	232	0.0043	649	c.111 others(668): Show c.1116+3865_1116+3866insGCGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTATCCGGGA AATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGAAA ATATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGAAA ATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGTGGGGTGTGGTGGTAC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
ZBTB8A_chr1_32534427_32610941	32581171	T T	TTAAATAT others(642): Show TTAAATATATAAATTATATAATATATATTATATATTGTATATTATATAAT TTATATAATATATTATATGTTATATAATATATATTATATATTGTATATAT TATATTATATATTATATATTTTATATATCATATATAGTATGCTATATAAT ATATATTTTTATATATTATATAGTATACTATATATTTTTATATATTATAT AGTATACTATATAATATATATTTTTATATATTATATATAATATATATAAT TATATATCATATATATTTATATAATATATGATATATAATATATAATATAT ATTATGTATTATATAATTATATAAAATATATCATATATTATATATTATAA ATAATATATTATATATTATATTATATATTATAAATAATATATTATATATT ATATTATATATTATAAATAATATATTATATATTATATTATATATTATAAA TAATATATTATATATTATATTACATATTATAAATAATATATTATATATTA TATTACATATTATAAATAATATATTATATATTATATTATATATTATAAAT AATATATTATATATTATATTATAAATAATATATTATATATTATAAATAAT ATATTATATATTATATTATAAATAATATATATTATAAATAATATATTATA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0020 a0001c0001t0055g0020	1	302	0.0033	649	c.-1- others(666): Show c.-1-11758_-1-11757insAATATATAAATTATATAATATATATTAT ATATTGTATATTATATAATTTATATAATATATTATATGTTATATAATATA TATTATATATTGTATATATTATATTATATATTATATATTTTATATATCAT ATATAGTATGCTATATAATATATATTTTTATATATTATATAGTATACTAT ATATTTTTATATATTATATAGTATACTATATAATATATATTTTTATATAT TATATATAATATATATAATTATATATCATATATATTTATATAATATATGA TATATAATATATAATATATATTATGTATTATATAATTATATAAAATATAT CATATATTATATATTATAAATAATATATTATATATTATATTATATATTAT AAATAATATATTATATATTATATTATATATTATAAATAATATATTATATA TTATATTATATATTATAAATAATATATTATATATTATATTACATATTATA AATAATATATTATATATTATATTACATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTATATTATAAATAATAT ATTATATATTATAAATAATATATTATATATTATATTATAAATAATATATA TTATAAATAATATATTATATA	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCB11_chr2_168915781_169036324	168975506	G G	GATAAATA others(643): Show GATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAA TATTTATATATTTATAGATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTATATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATA T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0001 a0005c0021t0001	a0005c0021t0001g0121 a0005c0021t0001g0121	1	306	0.0033	650	c.130 others(669): Show c.1308+1070_1308+1071insATATTTATCTATAAATATAAAAATAT TTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT ATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATCT ATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTAT ATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCT ATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTAT ATATTTATCTATAAATATATAAATATTTATATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCT ATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(643): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	249	0.0040	650	c.49- others(665): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ACAP3_chr1_1287391_1312930	1289471	C C	CCGTGTCT others(643): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	295	0.0034	650	c.40 others(661): Show c.4092_*4093insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGGGACGG AGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAG CAGGGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGG ACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGAGCAGACACGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGG AGCAGAGACACGGGACGGGGCAGGGACACGGGACGGGGCAGAGACACGGG ACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2919		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289854	C C	CCGTGTCT others(643): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGT GTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCT GCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	295	0.0034	650	c.37 others(661): Show c.3709_*3710insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACG GGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGG GACACGGGGGACGGAGCAGGGACACGGGGGACGGAGCAGAGACACGGGAC GGAGCAGGGACACGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACA CGGGACGGGGCAGGGACACGGGACGGGGCAGGGACACGGGACGGAGCAGG GACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGG CAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACA CGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGG ACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2536		chr1	TogoVar
ARSF_chrX_3036471_3117727	3037096	A A	ATTATATA others(643): Show ATTATATATATTATATATAAAATATATATAATATATAATATATATATTAT ATATAAAATATATATAATATATATAATATATATATTATATATAAAATATA TATAATATATATATTATATATAAAATATATATAATATATATAATATATAT AATATATATATTATATATAAAATATATATAATATATATAATATATATAAT ATATATATTATATATAAAATATATATAATATATATATTATATATAAAATA TATATAATATATATAATATATATATTATATATAAAATATATATAATATAT ATATTATATATAAAATATATATAATATATATAATATATATATTATATATA AAATATATATAATATATATATTATATATAAAATATATATAATATATATAA TATATATATTATATATAAAATATATATAATATATATATTATATATAAAAT ATATATAATATATAATATATATATTATATATAAAATATATATAATATATA TAATATATATAAAATATATATAATATATATAATATATATATTATATATAA AATATATATAATATATATAATATATATATTATATATAAAATATATATCAT ATATATAATATATATATTATATATAAAATATATATCATATATATAATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0002 a0006c0018t0002	a0006c0018t0002g0129 a0006c0018t0002g0129	1	193	0.0052	650	c.-45 others(661): Show c.-4596_-4595insTTATATATATTATATATAAAATATATATAATATA TAATATATATATTATATATAAAATATATATAATATATATAATATATATAT TATATATAAAATATATATAATATATATATTATATATAAAATATATATAAT ATATATAATATATATAATATATATATTATATATAAAATATATATAATATA TATAATATATATAATATATATATTATATATAAAATATATATAATATATAT ATTATATATAAAATATATATAATATATATAATATATATATTATATATAAA ATATATATAATATATATATTATATATAAAATATATATAATATATATAATA TATATATTATATATAAAATATATATAATATATATATTATATATAAAATAT ATATAATATATATAATATATATATTATATATAAAATATATATAATATATA TATTATATATAAAATATATATAATATATAATATATATATTATATATAAAA TATATATAATATATATAATATATATAAAATATATATAATATATATAATAT ATATATTATATATAAAATATATATAATATATATAATATATATATTATATA TAAAATATATATCATATATATAATATATATATTATATATAAAATATATAT CATATATATAATATAT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4374		chrX	TogoVar
ARSH_chrX_3001546_3039111	3037096	A A	ATTATATA others(643): Show ATTATATATATTATATATAAAATATATATAATATATAATATATATATTAT ATATAAAATATATATAATATATATAATATATATATTATATATAAAATATA TATAATATATATATTATATATAAAATATATATAATATATATAATATATAT AATATATATATTATATATAAAATATATATAATATATATAATATATATAAT ATATATATTATATATAAAATATATATAATATATATATTATATATAAAATA TATATAATATATATAATATATATATTATATATAAAATATATATAATATAT ATATTATATATAAAATATATATAATATATATAATATATATATTATATATA AAATATATATAATATATATATTATATATAAAATATATATAATATATATAA TATATATATTATATATAAAATATATATAATATATATATTATATATAAAAT ATATATAATATATAATATATATATTATATATAAAATATATATAATATATA TAATATATATAAAATATATATAATATATATAATATATATATTATATATAA AATATATATAATATATATAATATATATATTATATATAAAATATATATCAT ATATATAATATATATATTATATATAAAATATATATCATATATATAATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0220 a0001c0007t0002g0220	1	248	0.0040	650	c.37 others(661): Show c.3711_*3712insTTATATATATTATATATAAAATATATATAATATA TAATATATATATTATATATAAAATATATATAATATATATAATATATATAT TATATATAAAATATATATAATATATATATTATATATAAAATATATATAAT ATATATAATATATATAATATATATATTATATATAAAATATATATAATATA TATAATATATATAATATATATATTATATATAAAATATATATAATATATAT ATTATATATAAAATATATATAATATATATAATATATATATTATATATAAA ATATATATAATATATATATTATATATAAAATATATATAATATATATAATA TATATATTATATATAAAATATATATAATATATATATTATATATAAAATAT ATATAATATATATAATATATATATTATATATAAAATATATATAATATATA TATTATATATAAAATATATATAATATATAATATATATATTATATATAAAA TATATATAATATATATAATATATATAAAATATATATAATATATATAATAT ATATATTATATATAAAATATATATAATATATATAATATATATATTATATA TAAAATATATATCATATATATAATATATATATTATATATAAAATATATAT CATATATATAATATAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2986		chrX	TogoVar
ASB5_chr4_176208673_176274222	176251280	A A	ACAGAAAG others(643): Show ACAGAAAGTCAGGAGTCCCAGATGTGCCAGTCTCAACTCCAGTTTTACAT GCCAAGGTGGCATCCTGTCCATGCTGGCAGGACAGCGGGTGTCCTGCAGA TACTGTGCCTTTGTCCAACTATCTCCAAACAGGAGACCTCGCTCACTATG GGAGCTGCTTCCTTCTCTTTCCCTTGCTTTACAGTGACTGCAGGAAAATA GATTTCCCATCGCTGGAGACAGATCATCCCTCCCATCGGAATCTTCTAGC AGCCTATGTATGAATAAGCCAGTTGTGGGCATGCGCAAAAGTAAGATTTC TATTTCTTGTTTGTTTAATCATTCTTACCTTTGTTAACTAAAACAGATAC AAAAGGATTTAGGACACAAGCATCAATGCAGAGTACCTGGAAGGGTGAAG ATCTAAAGTCCAGAGTGGCTGTTTTTAGCAGGTACCGATTTTCAGTTTTA TATCAACCGTAGCCCTTCCTGTGACACCATCTAACACTTGATAATTTTCA GGTCTGCTTGAGAGAAAAAAGCGAGTAATCTCCTTGTCAGTTATAGTTCC CATACCTGGTGTCTGTGTTGTTTTCTCTTTGCCACACACACTTTGAAGTA CCATATTGAGCATTCAATCTTAAATACACAAACAATGTTTAATAATGTTC C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	410	0.0024	650	c.196 others(669): Show c.196+17632_196+17633insGGAACATTATTAAACATTGTTTGTGT ATTTAAGATTGAATGCTCAATATGGTACTTCAAAGTGTGTGTGGCAAAGA GAAAACAACACAGACACCAGGTATGGGAACTATAACTGACAAGGAGATTA CTCGCTTTTTTCTCTCAAGCAGACCTGAAAATTATCAAGTGTTAGATGGT GTCACAGGAAGGGCTACGGTTGATATAAAACTGAAAATCGGTACCTGCTA AAAACAGCCACTCTGGACTTTAGATCTTCACCCTTCCAGGTACTCTGCAT TGATGCTTGTGTCCTAAATCCTTTTGTATCTGTTTTAGTTAACAAAGGTA AGAATGATTAAACAAACAAGAAATAGAAATCTTACTTTTGCGCATGCCCA CAACTGGCTTATTCATACATAGGCTGCTAGAAGATTCCGATGGGAGGGAT GATCTGTCTCCAGCGATGGGAAATCTATTTTCCTGCAGTCACTGTAAAGC AAGGGAAAGAGAAGGAAGCAGCTCCCATAGTGAGCGAGGTCTCCTGTTTG GAGATAGTTGGACAAAGGCACAGTATCTGCAGGACACCCGCTGTCCTGCC AGCATGGACAGGATGCCACCTTGGCATGTAAAACTGGAGTTGAGACTGGC ACATCTGGGACTCCTGACTTTCTG	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	1/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176251280	A A	ACAGAAAG others(643): Show ACAGAAAGTCAGGAGTCCCAGATGTGCCAGTCTCAACTCCAGTTTTACAT GCCAAGGTGGCATCCTGTCCATGCTGGCAGGACAGCGGGTGTCCTGCAGA TACTGTGCCTTTGTCCAACTATCTCCAAACAGGAGACCTCGCTCACTATG GGAGCTGCTTCCTTCTCTTTCCCTTGCTTTACAGTGACTGCAGGAAAATA GATTTCCCATCGCTGGAGACAGATCATCCCTCCCATCGGAATCTTCTAGC AGCCTATGTATGAATAAGCCAGTTGTGTGCATGCGCAAAAGTAAGATTTC TATTTCTTGTTTGTTTAATCATTCTTACCTTTGTTAACTAAAACAGATAC AAAAGGATTTAGGACACAAGCATCAATGCAGAGTACCTGGAAGGGTGAAG ATCTAAAGTCCAGAGTGGCTGTTTTTAGCAGGTACCGATTTTCAGTTTTA TATCAACCGTAGCCCTTCCTGTGACACCATCTAACACTTGATAATTTTCA GGTCTGCTTGAGAGAAAAAAGCGAGTAATCTCCTTGTCAGTTATAGTTCC CACACCTGGTGTCTGTGATGTTTTCTCTTTGCCACACACACTTTGAAGTA CCATATTGAGCATTCAATCTTAAATACACAAACAATGTTTAATAATGTTC C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	410	0.0024	650	c.196 others(669): Show c.196+17632_196+17633insGGAACATTATTAAACATTGTTTGTGT ATTTAAGATTGAATGCTCAATATGGTACTTCAAAGTGTGTGTGGCAAAGA GAAAACATCACAGACACCAGGTGTGGGAACTATAACTGACAAGGAGATTA CTCGCTTTTTTCTCTCAAGCAGACCTGAAAATTATCAAGTGTTAGATGGT GTCACAGGAAGGGCTACGGTTGATATAAAACTGAAAATCGGTACCTGCTA AAAACAGCCACTCTGGACTTTAGATCTTCACCCTTCCAGGTACTCTGCAT TGATGCTTGTGTCCTAAATCCTTTTGTATCTGTTTTAGTTAACAAAGGTA AGAATGATTAAACAAACAAGAAATAGAAATCTTACTTTTGCGCATGCACA CAACTGGCTTATTCATACATAGGCTGCTAGAAGATTCCGATGGGAGGGAT GATCTGTCTCCAGCGATGGGAAATCTATTTTCCTGCAGTCACTGTAAAGC AAGGGAAAGAGAAGGAAGCAGCTCCCATAGTGAGCGAGGTCTCCTGTTTG GAGATAGTTGGACAAAGGCACAGTATCTGCAGGACACCCGCTGTCCTGCC AGCATGGACAGGATGCCACCTTGGCATGTAAAACTGGAGTTGAGACTGGC ACATCTGGGACTCCTGACTTTCTG	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	1/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176251280	A A	ACAGAAAG others(643): Show ACAGAAAGTCAGGAGTCCCAGATGTGCCAGTCTCAACTCCAGTTTTACAT GCCAAGGTGGCATCCTGTCCATGCTGGCAGGACAGCGGGTGTCCTGCAGA TACTGTGCCTTTGTCCAACTATCTCCAAACAGGAGACCTCGCTCACTATG GGAGCTGCTTCCTTCTCTTTCCCTTGCTTTACAGTGACTGCAGGAAAATA GATTTCCCATCGCTGGAGACAGATCATCCCTCCCATCGGAATCTTCTAGC AGCCTATGTATGAATAAGCCAGTTGTGTGCATGCGCAAAAGTAAGATTTC TATTTCTTGTTTGTTTAATCATTCTTACCTTTGTTAACTAAAACAGATAC AAAAGGATTTAGGACACAAGCATCAATGCAGAGTACCTGGAAGGGTGAAG ATCTAAAGTCCAGAGTGGCTGTTTTTAGCAGGTACCGATTTTCAGTTTTA TATCAACCGTAGCCCTTCCTGTGACACCATCTAACACTTGATAATTTTCA GGTCTGCTTGAGAGAAAAAAGCGAGTAATCTCCTTGTCAGTTATAGTTCC CATACCTGGTGTCTGTGATGTTTTCTCTTTGCCACACACACTTTAAAGTA CCATATTGAGCATTCAATCTTAAATACACAAACAATGTTTAATAATGTTC C	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19043.hp2 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0089 a0001c0005t0001g0192 a0001c0001t0001g0089 a0001c0005t0001g0192	2	410	0.0049	650	c.196 others(669): Show c.196+17632_196+17633insGGAACATTATTAAACATTGTTTGTGT ATTTAAGATTGAATGCTCAATATGGTACTTTAAAGTGTGTGTGGCAAAGA GAAAACATCACAGACACCAGGTATGGGAACTATAACTGACAAGGAGATTA CTCGCTTTTTTCTCTCAAGCAGACCTGAAAATTATCAAGTGTTAGATGGT GTCACAGGAAGGGCTACGGTTGATATAAAACTGAAAATCGGTACCTGCTA AAAACAGCCACTCTGGACTTTAGATCTTCACCCTTCCAGGTACTCTGCAT TGATGCTTGTGTCCTAAATCCTTTTGTATCTGTTTTAGTTAACAAAGGTA AGAATGATTAAACAAACAAGAAATAGAAATCTTACTTTTGCGCATGCACA CAACTGGCTTATTCATACATAGGCTGCTAGAAGATTCCGATGGGAGGGAT GATCTGTCTCCAGCGATGGGAAATCTATTTTCCTGCAGTCACTGTAAAGC AAGGGAAAGAGAAGGAAGCAGCTCCCATAGTGAGCGAGGTCTCCTGTTTG GAGATAGTTGGACAAAGGCACAGTATCTGCAGGACACCCGCTGTCCTGCC AGCATGGACAGGATGCCACCTTGGCATGTAAAACTGGAGTTGAGACTGGC ACATCTGGGACTCCTGACTTTCTG	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	1/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176251280	A A	ACAGAAAG others(643): Show ACAGAAAGTCAGGAGTCCCAGATGTGCCAGTCTCAACTCCAGTTTTACAT GCCAAGGTGGCATCCTGTCCATGCTGGCAGGACAGCGGGTGTCCTGCAGA TACTGTGCCTTTGTCCAACTATCTCCAAACAGGAGACCTCGCTCACTATG GGAGCTGCTTCCTTCTCTTTCCCTTGCTTTACAGTGACTGCAGGAAAATA GATTTCCCATCGCTGGAGACAGATCATCCCTCCCATCGGAATCTTCTAGC AGCCTATGTATGAATAAGCCAGTTGTGTGCATGCGCAAAAGTAAGATTTC TATTTCTTGTTTGTTTAATCATTCTTACCTTTGTTAACTAAAACAGATAC AAAAGGATTTAGGACACAAGCATCAATGCAGAGTACCTGGAAGGGTGAAG ATCTAAAGTCCAGAGTGGCTGTTTTTAGCAGGTACCGATTTTCAGTTTTA TATCAACCGTAGCCCTTCCTGTGACACCATCTAACACTTGATAATTTTCA GGTCTGCTTGAGAGAAAAAAGCGAGTAATCTCCTTGTCAGTTATAGTTCC CATACCTGGTGTCTGTGATGTTTTCTCTTTGCCACACACACTTTGAAGTA CCATATTAAGCATTCAATCTTAAATACACAAACAATGATTAATAATGTTC C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02486.hp2 HG00741.hp2 HG02486.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0001 a0004c0011t0001 a0001c0001t0001 a0004c0011t0001	a0001c0001t0001g0309 a0004c0011t0001g0152 a0001c0001t0001g0309 a0004c0011t0001g0152	2	410	0.0049	650	c.196 others(669): Show c.196+17632_196+17633insGGAACATTATTAATCATTGTTTGTGT ATTTAAGATTGAATGCTTAATATGGTACTTCAAAGTGTGTGTGGCAAAGA GAAAACATCACAGACACCAGGTATGGGAACTATAACTGACAAGGAGATTA CTCGCTTTTTTCTCTCAAGCAGACCTGAAAATTATCAAGTGTTAGATGGT GTCACAGGAAGGGCTACGGTTGATATAAAACTGAAAATCGGTACCTGCTA AAAACAGCCACTCTGGACTTTAGATCTTCACCCTTCCAGGTACTCTGCAT TGATGCTTGTGTCCTAAATCCTTTTGTATCTGTTTTAGTTAACAAAGGTA AGAATGATTAAACAAACAAGAAATAGAAATCTTACTTTTGCGCATGCACA CAACTGGCTTATTCATACATAGGCTGCTAGAAGATTCCGATGGGAGGGAT GATCTGTCTCCAGCGATGGGAAATCTATTTTCCTGCAGTCACTGTAAAGC AAGGGAAAGAGAAGGAAGCAGCTCCCATAGTGAGCGAGGTCTCCTGTTTG GAGATAGTTGGACAAAGGCACAGTATCTGCAGGACACCCGCTGTCCTGCC AGCATGGACAGGATGCCACCTTGGCATGTAAAACTGGAGTTGAGACTGGC ACATCTGGGACTCCTGACTTTCTG	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	1/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176251280	A A	ACAGAAAG others(643): Show ACAGAAAGTCAGGAGTCCCAGATGTGCCAGTCTCAACTCCAGTTTTACAT GCCAAGGTGGCATCCTGTCCATGCTGGCAGGACAGCGGGTGTCCTGCAGA TACTGTGCCTTTGTCCAACTATCTCCAAACAGGAGACCTCGCTCACTATG GGAGCTGCTTCCTTCTCTTTCCCTTGCTTTACAGTGACTGCAGGAAAATA GATTTCCCATCGCTGGAGACAGATCATCCCTCCCATCGGAATCTTCTAGC AGCCTATGTATGAATAAGCCAGTTGTGTGCATGCGCAAAAGTAAGATTTC TATTTCTTGTTTGTTTAATCATTCTTACCTTTGTTAACTAAAACAGATAC AAAAGGATTTAGGACACAAGCATCAATGCAGAGTACCTGGAAGGGTGAAG ATCTAAAGTCCAGAGTGGCTGTTTTTAGCAGGTACCGATTTTCAGTTTTA TATCAACCGTAGCCCTTCCTGTGACACCATCTAACACTTGATAATTTTCA GGTCTGCTTGAGAGAAAAAAGCGAGTAATCTCCTTGTCAGTTATAGTTCC CATACCTGGTGTCTGTGATGTTTTCTCTTTGCCACACACACTTTGAAGTA CCATATTGAGCATTCAATCTTAAATACACAAACAATGTTTAATAATGTTC C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(178): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02145.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18972.hp2 NA18977.hp2 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18992.hp1 NA18999.hp2 NA19000.hp2 NA19006.hp1 NA19006.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0003c0008 a0005c0009	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(18): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0013 a0001c0004t0001 a0001c0005t0001 a0001c0006t0003 a0001c0010t0001 a0003c0008t0001 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(163): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0364 a0001c0001t0001g0367 a0001c0001t0001g0369 a0001c0001t0005g0108 a0001c0001t0005g0120 a0001c0001t0005g0122 a0001c0001t0005g0228 a0001c0001t0005g0229 a0001c0001t0008g0083 a0001c0001t0008g0101 a0001c0001t0008g0102 a0001c0001t0009g0125 a0001c0001t0009g0126 a0001c0001t0014g0111 a0001c0001t0015g0112 a0001c0001t0016g0160 a0001c0001t0018g0048 a0001c0001t0020g0375 a0001c0002t0001g0057 a0001c0002t0001g0078 a0001c0002t0002g0010 a0001c0002t0002g0104 a0001c0002t0002g0115 a0001c0002t0002g0140 a0001c0002t0003g0004 a0001c0002t0003g0018 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0052 a0001c0002t0003g0056 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0099 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0007g0035 a0001c0002t0007g0064 a0001c0002t0007g0065 a0001c0002t0013g0233 a0001c0004t0001g0117 a0001c0004t0001g0118 a0001c0004t0001g0365 a0001c0004t0001g0366 a0001c0005t0001g0305 a0001c0005t0001g0306 a0001c0006t0003g0017 a0001c0010t0001g0157 a0003c0008t0001g0095 a0005c0009t0001g0186	181	410	0.4415	650	c.196 others(669): Show c.196+17632_196+17633insGGAACATTATTAAACATTGTTTGTGT ATTTAAGATTGAATGCTCAATATGGTACTTCAAAGTGTGTGTGGCAAAGA GAAAACATCACAGACACCAGGTATGGGAACTATAACTGACAAGGAGATTA CTCGCTTTTTTCTCTCAAGCAGACCTGAAAATTATCAAGTGTTAGATGGT GTCACAGGAAGGGCTACGGTTGATATAAAACTGAAAATCGGTACCTGCTA AAAACAGCCACTCTGGACTTTAGATCTTCACCCTTCCAGGTACTCTGCAT TGATGCTTGTGTCCTAAATCCTTTTGTATCTGTTTTAGTTAACAAAGGTA AGAATGATTAAACAAACAAGAAATAGAAATCTTACTTTTGCGCATGCACA CAACTGGCTTATTCATACATAGGCTGCTAGAAGATTCCGATGGGAGGGAT GATCTGTCTCCAGCGATGGGAAATCTATTTTCCTGCAGTCACTGTAAAGC AAGGGAAAGAGAAGGAAGCAGCTCCCATAGTGAGCGAGGTCTCCTGTTTG GAGATAGTTGGACAAAGGCACAGTATCTGCAGGACACCCGCTGTCCTGCC AGCATGGACAGGATGCCACCTTGGCATGTAAAACTGGAGTTGAGACTGGC ACATCTGGGACTCCTGACTTTCTG	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	1/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176251280	A A	ACAGAAAG others(643): Show ACAGAAAGTCAGGAGTCCCAGATGTGCCAGTCTCAACTCCAGTTTTACAT GCCAAGGTGGCATCCTGTCCATGCTGGCAGGACAGCGGGTGTCCTGCAGA TACTGTGCCTTTGTCCAACTATCTCCAAACAGGAGACCTCGCTCACTATG GGAGCTGCTTCCTTCTCTTTCCCTTGCTTTACAGTGACTGCAGGAAAATA GATTTCCCATCGCTGGAGACAGATCATCCCTCCCATCGGAATCTTCTAGC AGCCTATGTATGAATAAGCCAGTTGTGTGCATGCGCAAAAGTAAGATTTC TATTTCTTGTTTGTTTAATCATTCTTACCTTTGTTAACTAAAACAGATAC AAAAGGATTTAGGACACAAGCATCAATGCAGAGTACCTGGAAGGGTGAAG ATCTAAAGTCCAGAGTGGCTGTTTTTAGCAGGTACCGATTTTCAGTTTTA TATCAACCGTAGCCCTTCCTGTGACATCATCTAACACTTGATAATTTTCA GGTCTGCTTGAGAGAAAAAAGCGAGTAATCTCCTTGTCAGTTATAGTTCC CATACCTGGTGTCTGTGATGTTTTCTCTTTGCCACACACACTTTGAAGTA CCATATTGAGCATTCAATCTTAAATACACAAACAATGTTTAATAATGTTC C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01123.hp2 NA20752.hp1 HG00099.hp2 HG01123.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0060 a0001c0001t0001g0132 a0001c0001t0001g0133	3	410	0.0073	650	c.196 others(669): Show c.196+17632_196+17633insGGAACATTATTAAACATTGTTTGTGT ATTTAAGATTGAATGCTCAATATGGTACTTCAAAGTGTGTGTGGCAAAGA GAAAACATCACAGACACCAGGTATGGGAACTATAACTGACAAGGAGATTA CTCGCTTTTTTCTCTCAAGCAGACCTGAAAATTATCAAGTGTTAGATGAT GTCACAGGAAGGGCTACGGTTGATATAAAACTGAAAATCGGTACCTGCTA AAAACAGCCACTCTGGACTTTAGATCTTCACCCTTCCAGGTACTCTGCAT TGATGCTTGTGTCCTAAATCCTTTTGTATCTGTTTTAGTTAACAAAGGTA AGAATGATTAAACAAACAAGAAATAGAAATCTTACTTTTGCGCATGCACA CAACTGGCTTATTCATACATAGGCTGCTAGAAGATTCCGATGGGAGGGAT GATCTGTCTCCAGCGATGGGAAATCTATTTTCCTGCAGTCACTGTAAAGC AAGGGAAAGAGAAGGAAGCAGCTCCCATAGTGAGCGAGGTCTCCTGTTTG GAGATAGTTGGACAAAGGCACAGTATCTGCAGGACACCCGCTGTCCTGCC AGCATGGACAGGATGCCACCTTGGCATGTAAAACTGGAGTTGAGACTGGC ACATCTGGGACTCCTGACTTTCTG	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	1/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176251280	A A	ACAGAAAG others(643): Show ACAGAAAGTCAGGAGTCCCAGATGTGCCAGTCTCAACTCCAGTTTTACAT GCCAAGGTGGCATCCTGTCCATGCTGGCAGGACAGCGGGTGTCTTGCAGA TACTGTGCCTTTGTCCAACTATCTCCAAACAGGAGACCTCGCTCACTATG GGAGCTGCTTCCTTCTCTTTCCCTTGCTTTACAGTGACTGCAGGAAAATA GATTTCCCATCGCTGGAGACAGATCATCCCTCCCATCGGAATCTTCTAGC AGCCTATGTATGAATAAGCCAGTTGTGTGCATGCGCAAAAGTAAGATTTC TATTTCTTGTTTGTTTAATCATTCTTACCTTTGTTAACTAAAACAGATAC AAAAGGATTTAGGACACAAGCATCAATGCAGAGTACCTGGAAGGGTGAAG ATCTAAAGTCCAGAGTGGCTGTTTTTAGCAGGTACCGATTTTCAGTTTTA TATCAACCGTAGCCCTTCCTGTGACACCATCTAACACTTGATAATTTTCA GGTCTGCTTGAGAGAAAAAAGCGAGTAATCTCCTTGTCAGTTATAGTTCC CATACCTGGTGTCTGTGATGTTTTCTCTTTGCCACACACACTTTGAAGTA CCATATTGAGCATTCAATCTTAAATACACAAACAATGTTTAATAATGTTC C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00609.hp1 others(45): Show HG00408.hp2 HG00544.hp1 HG00609.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG02572.hp2 HG02647.hp2 HG03688.hp1 HG04199.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp2 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp2 NA18987.hp2 NA18995.hp2 NA19001.hp1 NA19007.hp1 NA19054.hp2 NA19056.hp1 NA19062.hp1 NA19065.hp2 NA19074.hp2 NA19080.hp1 NA19084.hp2 NA19090.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0007c0013	a0001c0001t0001 a0001c0001t0019 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0019 a0001c0002t0001 a0001c0004t0001 a0007c0013t0010	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 others(41): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0098 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0153 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0245 a0001c0001t0001g0363 a0001c0001t0019g0213 a0001c0002t0001g0219 a0001c0004t0001g0200 a0001c0004t0001g0203 a0007c0013t0010g0033	48	410	0.1171	650	c.196 others(669): Show c.196+17632_196+17633insGGAACATTATTAAACATTGTTTGTGT ATTTAAGATTGAATGCTCAATATGGTACTTCAAAGTGTGTGTGGCAAAGA GAAAACATCACAGACACCAGGTATGGGAACTATAACTGACAAGGAGATTA CTCGCTTTTTTCTCTCAAGCAGACCTGAAAATTATCAAGTGTTAGATGGT GTCACAGGAAGGGCTACGGTTGATATAAAACTGAAAATCGGTACCTGCTA AAAACAGCCACTCTGGACTTTAGATCTTCACCCTTCCAGGTACTCTGCAT TGATGCTTGTGTCCTAAATCCTTTTGTATCTGTTTTAGTTAACAAAGGTA AGAATGATTAAACAAACAAGAAATAGAAATCTTACTTTTGCGCATGCACA CAACTGGCTTATTCATACATAGGCTGCTAGAAGATTCCGATGGGAGGGAT GATCTGTCTCCAGCGATGGGAAATCTATTTTCCTGCAGTCACTGTAAAGC AAGGGAAAGAGAAGGAAGCAGCTCCCATAGTGAGCGAGGTCTCCTGTTTG GAGATAGTTGGACAAAGGCACAGTATCTGCAAGACACCCGCTGTCCTGCC AGCATGGACAGGATGCCACCTTGGCATGTAAAACTGGAGTTGAGACTGGC ACATCTGGGACTCCTGACTTTCTG	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	1/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176251280	A A	ACAGAAAG others(643): Show ACAGAAAGTCAGGAGTCCCAGATGTGCCAGTCTCAACTCCAGTTTTACAT GCCAAGGTGGCATCCTGTCCATGCTGGCAGGACAGCGGGTGTCTTGCAGA TACTGTGCCTTTGTCCAACTATCTCCAAACAGGAGACCTCGCTCACTATG GGAGCTGCTTCCTTTTCTTTCCCTTGCTTTACAGTGACTGCAGGAAAATA GATTTCCCATCGCTGGAGACAGATCATCCCTCCCATCGGAATCTTCTAGC AGCCTATGTATGAATAAGCCAGTTGTGTGCATGCGCAAAAGTAAGATTTC TATTTCTTGTTTGTTTAATCATTCTTACCTTTGTTAACTAAAACAGATAC AAAAGGATTTAGGACACAAGCATCAATGCAGAGTACCTGGAAGGGTGAAG ATCTAAAGTCCAGAGTGGCTGTTTTTAGCAGGTACCGATTTTCAGTTTTA TATCAACCGTAGCCCTTCCTGTGACACCATCTAACACTTGATAATTTTCA GGTCTGCTTGAGAGAAAAAAGCGAGTAATCTCCTTGTCAGTTATAGTTCC CATACCTGGTGTCTGTGATGTTTTCTCTTTGCCACACACACTTTGAAGTA CCATATTGAGCATTCAATCTTAAATACACAAACAATGTTTAATAATGTTC C	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	410	0.0024	650	c.196 others(669): Show c.196+17632_196+17633insGGAACATTATTAAACATTGTTTGTGT ATTTAAGATTGAATGCTCAATATGGTACTTCAAAGTGTGTGTGGCAAAGA GAAAACATCACAGACACCAGGTATGGGAACTATAACTGACAAGGAGATTA CTCGCTTTTTTCTCTCAAGCAGACCTGAAAATTATCAAGTGTTAGATGGT GTCACAGGAAGGGCTACGGTTGATATAAAACTGAAAATCGGTACCTGCTA AAAACAGCCACTCTGGACTTTAGATCTTCACCCTTCCAGGTACTCTGCAT TGATGCTTGTGTCCTAAATCCTTTTGTATCTGTTTTAGTTAACAAAGGTA AGAATGATTAAACAAACAAGAAATAGAAATCTTACTTTTGCGCATGCACA CAACTGGCTTATTCATACATAGGCTGCTAGAAGATTCCGATGGGAGGGAT GATCTGTCTCCAGCGATGGGAAATCTATTTTCCTGCAGTCACTGTAAAGC AAGGGAAAGAAAAGGAAGCAGCTCCCATAGTGAGCGAGGTCTCCTGTTTG GAGATAGTTGGACAAAGGCACAGTATCTGCAAGACACCCGCTGTCCTGCC AGCATGGACAGGATGCCACCTTGGCATGTAAAACTGGAGTTGAGACTGGC ACATCTGGGACTCCTGACTTTCTG	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	1/6			chr4	TogoVar
AVEN_chr15_33861227_34044204	33956743	T T	TAGAAAAG others(643): Show TAGAAAAGAGTATGTCGCTCTTTCCCTAAGCAGCCTGAGGTGATCTGTGA AAATGGTTCGCTATTCACTTGACCCGGAGAACCCCACGAAATCATGCAAA TCAAGAGGTTCCAATCTTCGTGTTCACTTTAAGAACACTCGTGAAACTGC TCAGGCCATCAAGGGTATGCATATACGAAAAGCCACGAAGTATCTGAAAG ATGTCACTTTACAGAAACAGTGTGTACCATTCCGACGTTACAATGGTGGA GTTGGCAGGTGTGCGCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTG GCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGA GTAATGCTGAACTTAAGGGTTTAGATGTAGATTCTCTGGTCATTGAGCAT ATCCAAGTGAACAAAGCACCTAAGATGCGCCGCTGGACCTACAGAGCTCA TGGTCGGATTAACCCATACATGAGCTCTCCCTGCCACATTGAGATGATCC TTACGGAAAAGGAACAGATTGTTCCTAAACCAGAAGAGGAGGTTGCCCAG AAGAAAAAGATATCCCAGAAGAAACAAAAACTTATGGCACGGGAGTAAAT TCAGCATTAAAATAAATGTAATTAAAAGGAAAAAAAAAAAAAAAAAAGAA A	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	266	0.0038	650	c.445 others(669): Show c.445+46288_445+46289insTTTCTTTTTTTTTTTTTTTTTTCCTT TTAATTACATTTATTTTAATGCTGAATTTACTCCCGTGCCATAAGTTTTT GTTTCTTCTGGGATATCTTTTTCTTCTGGGCAACCTCCTCTTCTGGTTTA GGAACAATCTGTTCCTTTTCCGTAAGGATCATCTCAATGTGGCAGGGAGA GCTCATGTATGGGTTAATCCGACCATGAGCTCTGTAGGTCCAGCGGCGCA TCTTAGGTGCTTTGTTCACTTGGATATGCTCAATGACCAGAGAATCTACA TCTAAACCCTTAAGTTCAGCATTACTCTCTGCGTTTTTAAGCATGTGCAG CAAAAATTCAGCACTCTTTTTGGGCCACCGACCTTGTGTCCAGCCCCATT GCTTGGCCTGCGCACACCTGCCAACTCCACCATTGTAACGTCGGAATGGT ACACACTGTTTCTGTAAAGTGACATCTTTCAGATACTTCGTGGCTTTTCG TATATGCATACCCTTGATGGCCTGAGCAGTTTCACGAGTGTTCTTAAAGT GAACACGAAGATTGGAACCTCTTGATTTGCATGATTTCGTGGGGTTCTCC GGGTCAAGTGAATAGCGAACCATTTTCACAGATCACCTCAGGCTGCTTAG GGAAAGAGCGACATACTCTTTTCT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
B4GALNT4_chr11_364499_387117	374684	C C	CAGGGAGG others(643): Show CAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGTGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGG GAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0010 a0001c0003t0004g0010	1	184	0.0054	650	c.784 others(665): Show c.784-766_784-765insAGGAAGGGAGGGAGGGAGGTGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GTGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C2CD4C_chr19_400445_414147	404349	G G	GGGGGACG others(643): Show GGGGGACGGGGTCCTGTCCCGAGGGGTGTGAGGGGGGGACGGGGCCCTGC CCTGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGAGG GGGGATGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGATGGGGTCCTGCC CTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCTTGAGGGGTGTGGGGGGG AACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAG GGGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGTACG GGGTCCTGCCCTGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAGG GGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGATGG GGTCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCTTGAGGGGT GTGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGT CCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGT GGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTC CTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCCTGAGGGGTGTGG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0143 a0001c0002t0143	a0001c0002t0143g0147 a0001c0002t0143g0147	1	322	0.0031	650	c.27 others(661): Show c.2746_*2747insTCCACACCCCTCAGGGCAGGACCCCGTACCCCCT CAGACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAG GACCCCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCC ACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAGG ACCCCGTTCCCCCCCACACCCCTCAAGGCAGGACCCCGTACCCCCTCAGA CCCCTCAGGGCAGGACCCCATCCCCCCCCACACCCCTCAGGGCAGGACCC CATCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCTCCACAC CCCTCAGGGCAGGACCCCGTACCCCCTCAGACCCCTCAGGGCAGGACCCC GTCCCCCCCTCAGACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCT CAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAAGGCAGGACCCCGTAC CCCCTCAGACCCCTCAGGGCAGGACCCCATCCCCCCCCCACACCCCTCAG GGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTCCCC CCCTCACACCCCTCAGGGCAGGGCCCCGTCCCCCCCTCACACCCCTCGGG ACAGGACCCCGTCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1095		chr19	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(643): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGTAGGGTGGGGGAAGGGTGCGGGTGGGGT TGGGGAGGGGTGGGGTGGAGTGGGGGGAAGGGTATGGGTGGGGCTGGGGA GGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTACT CCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGG TGGAGGAGGGGTGGGGGAGGGAGGGATGGGGTGGGGGAAGGGTGTGGGTG GGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACT CCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGG TGGGGGAAGGGTGTGGGTGGGGTGGGGTGGGGAGGGGTGGGGTGGGGTGG GAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGGGGAGGGGTGGGGTGG G	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0065 a0001c0001t0019g0065	1	284	0.0035	650	c.712 others(667): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCACCCCACCCCTCCCACCCCACCCCACCCCTCCCCACCCC ACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCCCA CCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCT CCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCATCC CTCCCTCCCCCACCCCTCCTCCACCCCACCTGCACCCTTCCCCCACCCCA CCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCTC CCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACCCATACCCTTCCCC CCACTCCACCCCACCCCTCCCCAACCCCACCCGCACCCTTCCCCCACCCT ACCCACCCCTCCCCAGCCCCACACACACCCTTCCCCCACCCCAACCCTCC CCAGCCCCACCCACACCCTTCCCCCACCCCACCCCACCCCTCCCCCACCC CACCCCAACCCTCCCCCACCCCACCCCAACCCTCCCCAGCCCCACACACC CTTCCCCCACCCCAACCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACT CCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(643): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTT CCCATCCTCACCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAG CTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGCCCCCTCGCC TGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTG CCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCC CACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCC TGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGCC CCCTCGCCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACC TTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCACCTGCCAC A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0001 a0010c0025t0001	a0010c0025t0001g0023 a0010c0025t0001g0023	1	284	0.0035	650	c.411 others(667): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGA AGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGTGA GGATGGGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTG GCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAG GTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGG GGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTG GCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGT GGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGCGAGGGGGC AGGAAGGTGGGCCGTGGCAGGTGAGGGGGCAGGAAGGTGGGCCGTGGCAG GCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGG GCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGC AGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAG GCGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(643): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTCTCGGTTTGTCGCCCAGGCTGGAGTGCAGTGGC ACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTCTCGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACTACCACGCCC A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0020 a0004c0004t0020	a0004c0004t0020g0286 a0004c0004t0020g0286	1	324	0.0031	650	c.110 others(667): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTCTCGGTTTGTCGCCCAGGCTGGAGTGCA GTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTCTCGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACTACCA CGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CPNE4_chr3_131528569_132040014	131978270	T T	TTTTATAT others(643): Show TTTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATTTATATATATATTTTTATATATTTATATATATTTTTAT ATATTTATATATTTATATATATATTTATATATATATTTATATATATATTT ATATATATTTTTATATATATATTTATATATATTTATATATATATATTTAT ATATATTTATATATATTTATATATATATATTTATATATATATTTTTATAT ATTTATATATATTTATATATATTTATATATATATTTATATATATATTTAT ATATATTTATATATATATATTTATATATATATTTATATATATTTATATAT ATATATTTATATATATATATATATATATTTATATATATTTATATATATAT ATTTATATATATATATATATATATTTATATATATTTATATATATATATTT ATATATATTTATATATATATATTTATATATATATTTATATATATTTATAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATATTTATATATTTATATATATTTATATATATATTTATATATTTATATAT ATTTATATATATATTTATATATTTATATATATTTATATATATATTTATAT A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01169.hp1 HG00738.hp1 HG01169.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0024 a0001c0005t0004g0026 a0001c0005t0004g0024 a0001c0005t0004g0026	2	94	0.0213	650	c.-2+ others(667): Show c.-2+56296_-2+56297insTATATAAATATATATATAAATATATATA AATATATAAATATATATATAAATATATATAAATATATAAATATATATATA AATATATATAAATATATAAATATATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATATATAAATATATATAAATATATATATA AATATATATATATAAATATATATAAATATATATATATAAATATATATAAA TATATATATATATATATATAAATATATATATATAAATATATATAAATATA TATATATATATATATAAATATATATATATAAATATATATAAATATATATA TAAATATATATATATAAATATATATAAATATATATATAAATATATATATA AATATATATAAATATATATAAATATATAAAAATATATATATAAATATATA TATATAAATATATATAAATATATATAAATATATATATATAAATATATATA AATATATATATAAAAATATATATAAATATATATATAAATATATATATAAA TATATATATAAATATATAAATATATAAAAATATATATAAATATATAAAAA TATATATATAAATATAAATATATATAAATATATATATAAATATATATAAA TATATATATAAATATATATAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(643): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCGTC CACCCATCCCCCCACCCACCCATCCCCCCACCCACCCATCCGTCCACCCA TCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCC CGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCA TCTGTCCACCCATCCATCCACCCATCCCCCCCACCCACCCATCCATCCAT CCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCC ACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCC CCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCC ATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCAT CCATCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCCC G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0002 a0001c0004t0002g0002	1	348	0.0029	650	c.13 others(661): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCGTCCACCCATCCCCCCACCCACCCATCCCCCCACCCAC CCATCCGTCCACCCATCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCC ACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGT CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCTGTCCACCCATCCATCCACCCATCCCCCCCACC CACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCA CCCACCCATCTGTCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTC CGTCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCA CCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACC CATCCGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCTG TCCACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CUL4A_chr13_113204613_113272108	113232218	G G	GTCACCAC others(643): Show GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGC TGCCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTG TCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCAC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTC ACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATT A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	396	0.0025	650	c.513 others(665): Show c.513-959_513-958insTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGCTGCCACCACTACCTGCCCACCACCATTACTG TCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCAC CATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCT GCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
D2HGDH_chr2_241729630_241773811	241766455	C C	CTTGGGGA others(643): Show CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGTGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGTGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAA G	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18906.hp1 HG02965.hp1 NA18906.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0005 a0010c0010t0005	a0010c0010t0005g0025 a0010c0010t0005g0025	2	412	0.0049	650	c.130 others(669): Show c.1307-1163_1307-1162insTGGAGAACTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGTGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DLGAP2_chr8_732628_1713476	1417639	G G	GCACAGGG others(643): Show GCACAGGGAGCCACACTCCTGCCTCGCTCAGCGAGGCTCCAGGGGGCCAC GGGGAGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGCCACGGGG AGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACGGGGAGCC CCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACGGGGAGCCCCAC TCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACGGGGAGGCCTCACTCC TGCCTCACTCAGCGAGGCTCCAGGGGGGCACGGGGAGGCCTCACTCCTGC CTCACTCAGCGAGGCTCCAGGGGGGCACGGGGAGGCCTCACTCCTGCCTC ACTCCGCGAGGCTCCAGGGGGCCACGGGGAGCCCCACTCCTGCCTCACTC GGCGAGGCTCCAGGGGGCCACGGGGAGCCCCACTCCTGCCTCACTCAGCG AGGCTCCAGGGGGGCACGGGGAGGCCTCACTCCTGCCTCACTCCGCGAGG CTCCAGGGGGCCACGGGGAGCCCCACTCCTGCCTCACTCGGCGAGGCTCC AGGGGGGCACGGGGAGGCCTCACTCCTGCCTCACTCAGCGAGGCTCCAGG GGGGCACGGGGAGGCCTCACTCCTGCCTCACTCCGCGAGGCTCCAGGGGG C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	650	c.107 others(669): Show c.107-83724_107-83723insAGGGAGCCACACTCCTGCCTCGCTCA GCGAGGCTCCAGGGGGCCACGGGGAGCCCCACTCCTGCCTCACTCAGCGA GGCTCCAGGGGGCCACGGGGAGCCCCACTCCTGCCTCACTCAGCGAGGCT CCAGGGGGGCACGGGGAGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAG GGGGGCACGGGGAGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGG GCACGGGGAGGCCTCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCA CGGGGAGGCCTCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACGG GGAGGCCTCACTCCTGCCTCACTCCGCGAGGCTCCAGGGGGCCACGGGGA GCCCCACTCCTGCCTCACTCGGCGAGGCTCCAGGGGGCCACGGGGAGCCC CACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACGGGGAGGCCTCAC TCCTGCCTCACTCCGCGAGGCTCCAGGGGGCCACGGGGAGCCCCACTCCT GCCTCACTCGGCGAGGCTCCAGGGGGGCACGGGGAGGCCTCACTCCTGCC TCACTCAGCGAGGCTCCAGGGGGGCACGGGGAGGCCTCACTCCTGCCTCA CTCCGCGAGGCTCCAGGGGGCCAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
EEF1A2_chr20_63483014_63504083	63486940	C C	CTTCCCCC others(643): Show CTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCCC CCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCACC CTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTC TGCATCCTCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCC TCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGA GCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCC CACCTTCCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTC CACCCCGACCCTCCTCCGCATCCTCAGGGAAGCTGCCCAACCTCCACCCC ACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCTTCCACCCCACCCTCC TCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCAGACCCTCCTCTGCA TCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCTGCATCCTCAG GGAACCTGCCCATCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCT GCCCATCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0139 a0001c0007t0001g0139	1	374	0.0027	650	c.13 others(661): Show c.1357_*1358insAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGG TGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTG GAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGTTG GGCAGCTTCCCTGAGGATGCAGAGGAGGGTCTGGGTGGAGGGTGGGCAGG CTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAAGGTGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGC GGAGGAGGGTCGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGA GGGTGGGGTGGAAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGG GTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCA GGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGCTTCC CTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGA TACAGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGAGGATGCAGA GGAGGGTCGGGGGGAA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1073		chr20	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(643): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA GGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAAGGAGG GAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGA AGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGGAAGGG AGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAAGGAGGGAAG GGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAGGGAAGGAGG GAAGGAGGGAAGGGAGGGAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGG GAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGAGGGAAGGGAG GGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGG G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	290	0.0035	650	c.757 others(667): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCTTCCCT CCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCC TCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCT CCTTTCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCC TTCCCTCCTTCCCTACCTTCCCTCCCTTCCCTCCTTTCCCTCCTTCCCTC CCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCT TCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTCCCTTCC CTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCC TCCTTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCT CCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCC TCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCA TCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCC CTCCCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EXD3_chr9_137301896_137428162	137355485	A A	AGGAGAAA others(643): Show AGGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGAGGACGGAGGAAGGAGGA TGGAGGAAGGAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAAGGAGGAA GGAGGAAGGAGGAAGGGAGGAAGGAGGATGGAGGAAGGAGGACGGAGGAA GGAGGATGGAGGAAGGAGGAAGGAGGATGGAGGAAGGGAGGATGGAGGAA GGAGGATGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGATGGAGGAA GGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGACGGAGGAAGGAGGAA GGAGGATGGAGGAAGGGAGGATGGAGGAAGGAGAAAGGAGGAAGGAGAAA GGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAA GGAGGAAGGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGAGGACGGAGGAA GGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGGAAG GAGGAAGGGAGGAAGGAGGAAGGGAGGAAGGGAGGAAGGAGGAAGGAGGA AGGAGGACGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGA T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	82	0.0122	650	c.758 others(665): Show c.758-713_758-712insATCCTCCTTCCTCCTTCCTCCTTCCTCCTT CCTCCCTTCCTCCGTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCC TTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTCCTCC TTCCTCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCT TCCTCCTTCCTCCCTTCCTCCTTCCTCCGTCCTCCTTCCTCCTTTCTCCT TCCTCCCTTTCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCT TCCTCCTTCCTCCCTTCCTCCTTTCTCCTTCCTCCTTTCTCCTTCCTCCA TCCTCCCTTCCTCCATCCTCCTTCCTCCTTCCTCCGTCCTCCTTCCTCCT TCCTCCATCCTCCTTCCTCCCTTCCTCCATCCTCCTTCCTCCCTTCCTCC TTCCTCCTTCCTCCATCCTCCTTCCTCCATCCTCCCTTCCTCCATCCTCC TTCCTCCTTCCTCCATCCTCCTTCCTCCGTCCTCCTTCCTCCATCCTCCT TCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCG TCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCGTCCTCCTTCCTCCTT TCTCCTTCCTCCCTTTCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
EXOC2_chr6_480154_698139	519826	G G	GCACCGAG others(643): Show GCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	272	0.0037	650	c.238 others(671): Show c.2380+12642_2380+12643insGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar

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