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
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(347): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCG GGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGG AGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAA GGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCA GGAGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02895.hp1 HG02970.hp1 others(1): Show HG02109.hp1 HG02895.hp1 HG02970.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 others(1): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0052	a0001c0001t0005g0064 a0001c0001t0007g0058 a0001c0001t0010g0041 others(1): Show a0001c0001t0005g0064 a0001c0001t0007g0058 a0001c0001t0010g0041 a0001c0001t0052g0209	4	222	0.0180	354	c.914 others(373): Show c.914-32089_914-32088insCCTCCTGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCGCCCCCCCGCCTCCCCCC TCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCCC CCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTC CCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCC GCCTCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCC CCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(347): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTATTTTATTTTTT ATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGC GCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCC GGCCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	410	0.0024	354	c.-26 others(373): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTATTT TATTTTTTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCACGCCCGGCCTTATCCTTGCTTTTAT	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(347): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTATTTTATTTTTT ATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGC GCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02818.hp2 HG02896.hp1 others(1): Show HG02717.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0204 a0001c0001t0007g0012 a0001c0001t0007g0203 a0001c0001t0002g0204 a0001c0001t0007g0012 a0001c0001t0007g0203	4	410	0.0098	354	c.-26 others(373): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTATTT TATTTTTTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTTATCCTTGCTTTTAT	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(347): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTATTTTATTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGC GCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	410	0.0024	354	c.-26 others(373): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTATTT TATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTTATCCTTGCTTTTAT	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(347): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGC GCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0018 a0001c0004t0002g0018	1	410	0.0024	354	c.-26 others(373): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTTATCCTTGCTTTTAT	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC35F3_chr1_233899676_234329511	234140002	A A	AATAAAAT others(347): Show AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAATAAA AAAAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0126 a0001c0002t0002g0126	1	158	0.0063	354	c.284 others(373): Show c.284-91415_284-91414insATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAAAAAATAAAAAAAT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7			chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141246484	A A	ATCAAGAT others(347): Show ATCAAGATGTGCAGGCCAAGGCAGCAACAGAGAGGGTCTCCCAGCAAGGT GGAGTCACACGTTTGCGTCAGGCGACATCCCCTCGATGCTGCCATATTCT ATTGGTTAACAGGAATTACTCAAGATGTGCAGGCCAAGGCAGCAACAGAG AGAGTCTCCCAGCAAGGTGGAGTCACACGTTTGCGTCAGGCGACATCCCC TCGATGCTGCCATATTCTATTGGTTAACAGGAATTACTCAAGATGTGCAG GCCAAGGCAGCAACAGAGAGAGTCTCCCAGCAAGGTGGAGTCACACGTTT GCGTCAGGCGACATCCCCTCGATGCTGCCATATTCTATTGGTTAACAGGA ATTAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0057	1	188	0.0053	354	c.241 others(371): Show c.241+7504_241+7505insGTAATTCCTGTTAACCAATAGAATATGG CAGCATCGAGGGGATGTCGCCTGACGCAAACGTGTGACTCCACCTTGCTG GGAGACTCTCTCTGTTGCTGCCTTGGCCTGCACATCTTGAGTAATTCCTG TTAACCAATAGAATATGGCAGCATCGAGGGGATGTCGCCTGACGCAAACG TGTGACTCCACCTTGCTGGGAGACTCTCTCTGTTGCTGCCTTGGCCTGCA CATCTTGAGTAATTCCTGTTAACCAATAGAATATGGCAGCATCGAGGGGA TGTCGCCTGACGCAAACGTGTGACTCCACCTTGCTGGGAGACCCTCTCTG TTGCTGCCTTGGCCTGCACATCTTGA	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding	2/8			chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141246484	A A	ATCAAGAT others(347): Show ATCAAGATGTGCAGGCCAAGGCAGCAACAGAGAGGGTCTCCCAGCAAGGT GGAGTCACACGTTTGCGTCAGGCGACATCCCCTTGATGCTGCCATATTCT ATTGGTTAACAGGAATTACTCAAGATGTGCAGGCCAAGGCAGCAACAGAG AGGGTCTCCCAGCAAGGTGGAGTCACACGTTTGCGTCAGGCGACATCCCC TCGATGCTGCCATATTCTATTGGTTAACAGGAATTACTCAAGATGTGCAG GCCAAGGCAGCAACAGAGAGGGTCTCCCAGCAAGGTGGAGTCACACGTTT GCGTCAGGCGACATCCCCTCGATGCTGCCATATTCTATTGGTTAACAGGA ATTAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp1 HG02647.hp1 HG00280.hp1 HG01074.hp1 HG02647.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0001 a0003c0002 a0001c0003 a0002c0001 a0003c0002	a0001c0003t0003 a0002c0001t0001 a0003c0002t0019 a0001c0003t0003 a0002c0001t0001 a0003c0002t0019	a0001c0003t0003g0168 a0002c0001t0001g0092 a0003c0002t0019g0034 a0001c0003t0003g0168 a0002c0001t0001g0092 a0003c0002t0019g0034	3	188	0.0160	354	c.241 others(371): Show c.241+7504_241+7505insGTAATTCCTGTTAACCAATAGAATATGG CAGCATCGAGGGGATGTCGCCTGACGCAAACGTGTGACTCCACCTTGCTG GGAGACCCTCTCTGTTGCTGCCTTGGCCTGCACATCTTGAGTAATTCCTG TTAACCAATAGAATATGGCAGCATCGAGGGGATGTCGCCTGACGCAAACG TGTGACTCCACCTTGCTGGGAGACCCTCTCTGTTGCTGCCTTGGCCTGCA CATCTTGAGTAATTCCTGTTAACCAATAGAATATGGCAGCATCAAGGGGA TGTCGCCTGACGCAAACGTGTGACTCCACCTTGCTGGGAGACCCTCTCTG TTGCTGCCTTGGCCTGCACATCTTGA	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding	2/8			chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141246518	G G	GGTCTCCC others(347): Show GGTCTCCCAGCAAGGTGGAGTCACACGTTTGCGTCAGGCGACATCCCCTC GATGCTGCCATATTCTATTGGTTAACAGGAATTACTCAAGATGTGCAGGC CAAGGCAGCAACAGAGAGAGTCTCCCAGCAAGGTGGAGTCACACGTTTGC GTCAGGCGACATCCCCTCGATGCTGCCATATTCTATTGGTTAACAGGAAT TACTCAAGATGTGCAGGCCAAGGCAGCAACAGAGAGAGTCTCCCAGCAAG GTGGAGTCACACGTTTGCGTCAGGCGACATCCCCTCGATGCTGCCATATT CTATTGGTTAACAGGAATTACTCAAGATGTGCAGGCCAAGGCAGCAACAG AGAGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02040.hp1 HG00558.hp1 HG02040.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0001 a0001c0010t0001 a0001c0003t0001 a0001c0010t0001	a0001c0003t0001g0065 a0001c0010t0001g0154 a0001c0003t0001g0065 a0001c0010t0001g0154	2	188	0.0106	354	c.241 others(371): Show c.241+7470_241+7471insTCTCTCTGTTGCTGCCTTGGCCTGCACA TCTTGAGTAATTCCTGTTAACCAATAGAATATGGCAGCATCGAGGGGATG TCGCCTGACGCAAACGTGTGACTCCACCTTGCTGGGAGACTCTCTCTGTT GCTGCCTTGGCCTGCACATCTTGAGTAATTCCTGTTAACCAATAGAATAT GGCAGCATCGAGGGGATGTCGCCTGACGCAAACGTGTGACTCCACCTTGC TGGGAGACTCTCTCTGTTGCTGCCTTGGCCTGCACATCTTGAGTAATTCC TGTTAACCAATAGAATATGGCAGCATCGAGGGGATGTCGCCTGACGCAAA CGTGTGACTCCACCTTGCTGGGAGAC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding	2/8			chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141246518	G G	GGTCTCCC others(347): Show GGTCTCCCAGCAAGGTGGAGTCACACGTTTGCGTCAGGCGACATCCCCTC GATGCTGCCATATTCTATTGGTTAACAGGAATTACTCAAGATGTGCAGGC CAAGGCAGCAACAGAGAGGGTCTCCCAGCAAGGTGGAGTCACACGTTTGC GTCAGACGACATCCCCTTGATGCTGCCATATTCTATTGGTTAACAGGAAT TACTCAAGATGTGCAGGCCAAGGCAGCAACAGAGAGGGTCTCCCAGCAAG GTGGAGTCACACGTTTGCGTCAGACGACATCCCCTCGATGCTGCCATATT CTATTGGTTAACAGGAATTACTCAAGATGTGCAGGCCAAGGCAGCAACAG AGAGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0027 a0001c0018t0027	a0001c0018t0027g0009 a0001c0018t0027g0009	1	188	0.0053	354	c.241 others(371): Show c.241+7470_241+7471insTCTCTCTGTTGCTGCCTTGGCCTGCACA TCTTGAGTAATTCCTGTTAACCAATAGAATATGGCAGCATCGAGGGGATG TCGTCTGACGCAAACGTGTGACTCCACCTTGCTGGGAGACCCTCTCTGTT GCTGCCTTGGCCTGCACATCTTGAGTAATTCCTGTTAACCAATAGAATAT GGCAGCATCAAGGGGATGTCGTCTGACGCAAACGTGTGACTCCACCTTGC TGGGAGACCCTCTCTGTTGCTGCCTTGGCCTGCACATCTTGAGTAATTCC TGTTAACCAATAGAATATGGCAGCATCGAGGGGATGTCGCCTGACGCAAA CGTGTGACTCCACCTTGCTGGGAGAC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding	2/8			chr8	TogoVar
SLC5A9_chr1_48217716_48253638	48244802	T T	TTATATAT others(347): Show TTATATATAAATTATATTTATATTATATATAAATTATATTTATATTATAT ATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAAT TATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATT TATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATT ATATATAAATTATATTAATATTATATATAAATTATATTTATATTATATAT AAATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTA TATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTA TATTA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0219 a0002c0002t0003g0219	1	420	0.0024	354	c.183 others(373): Show c.1837+2216_1837+2217insAATTATATTTATATTATATATAAATT ATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTT ATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTA TATATAAATTATATTTATATTATATATAAATTATATTTATATTATATATA AATTATATTAATATTATATATAAATTATATTTATATTATATATAAATTAT ATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTAT ATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTATA TATATAAATTATATTTATATTATATATA	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC5A9_chr1_48217716_48253638	48244802	T T	TTATATAT others(347): Show TTATATATAAATTATATTTATATTATATATAAATTATATTTATATTATAT ATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAAT TATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATT TATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATT ATATATAAATTATATTTATATTATATATAAATTATATTTATATTATATAT AAATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTA TATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTA TATTA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19086.hp2 NA19057.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0212 a0002c0002t0003g0213 a0002c0002t0003g0212 a0002c0002t0003g0213	2	420	0.0048	354	c.183 others(373): Show c.1837+2216_1837+2217insAATTATATTTATATTATATATAAATT ATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTT ATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTA TATATAAATTATATTTATATTATATATAAATTATATTTATATTATATATA AATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTAT ATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTAT ATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTATA TATATAAATTATATTTATATTATATATA	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMIM28_chr6_138372905_138388486	138376375	T T	TCTGATAC others(347): Show TCTGATACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	374	0.0027	354	c.-16 others(365): Show c.-1698_-1697insCTGATACTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	SMIM28	ENSG00000262543.2	transcript	ENST00000573100.2	protein_coding		1529		chr6	TogoVar
SMOC2_chr6_168436184_168672992	168595195	G G	GGGCATCT others(347): Show GGGCATCTTTCTAGAGGATGGACGAGCTCCTCCTTCCTAAGGCCTCACAA GGGGCATCTTTCTAGAGGATCTCTGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTAAGGCCT CACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGC CTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAG GCCTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG01891.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0002 a0001c0008t0002 a0001c0002t0002 a0001c0008t0002	a0001c0002t0002g0036 a0001c0008t0002g0042 a0001c0002t0002g0036 a0001c0008t0002g0042	2	180	0.0111	354	c.638 others(371): Show c.638-3623_638-3622insGGCATCTTTCTAGAGGATGGACGAGCTC CTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGATCTCTGAGCT CCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGC TCCTCCTCCTTCCTAAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAG CTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGA GCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCG AGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCC GAGCTCCTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168596006	C C	CTTCCTGG others(347): Show CTTCCTGGGTGCTGCTGGAGAGGCATGAACAGGCGCCACGTGAACACGGC AGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGT GAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAG GTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGG CATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTG CTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCC TGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGA TGAGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp1 HG01167.hp1 others(40): Show HG00609.hp2 HG01069.hp1 HG01167.hp1 HG01256.hp1 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02074.hp2 HG02083.hp1 HG02293.hp1 HG02572.hp1 HG02572.hp2 HG02735.hp1 HG02896.hp2 HG02897.hp1 HG03209.hp2 HG03579.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18960.hp1 NA18963.hp2 NA18971.hp2 NA18983.hp2 NA18990.hp2 NA19000.hp2 NA19030.hp1 NA19068.hp2 NA19080.hp1 NA19088.hp2 NA19091.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0011 others(2): Show a0001c0001 a0001c0002 a0001c0011 a0002c0012 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0015 a0001c0002t0002 a0001c0002t0007 a0001c0011t0006 a0002c0012t0010 a0005c0010t0001	a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0089 others(40): Show a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0001t0003g0120 a0001c0001t0003g0171 a0001c0001t0011g0119 a0001c0001t0015g0163 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0027 a0001c0002t0002g0038 a0001c0002t0002g0043 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0060 a0001c0002t0002g0180 a0001c0002t0007g0016 a0001c0011t0006g0167 a0002c0012t0010g0076 a0005c0010t0001g0130	43	180	0.2389	354	c.638 others(371): Show c.638-2782_638-2781insGGCGCCACGTGAACACGGCAGTGATGAG TTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGC AGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGT GAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGCATGAACAG GTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGG AATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTG CTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCC TGGGTGCTGCTGGAGAGGCATGAACA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168596006	C C	CTTCCTGG others(347): Show CTTCCTGGGTGCTGCTGGAGGGGCATGAACAGGCGCCACGTGAACACGGC AGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGT GAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAG GTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGG CATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTG CTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCC TGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGA TGAGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0012	1	180	0.0056	354	c.638 others(371): Show c.638-2793_638-2792insGGGCATGAACAGGCGCCACGTGAACACG GCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCAT GTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAAC AGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGA GGCATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGC TGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTT CCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGT GATGAGTTTCCTGGGTGCTGCTGGAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168596206	C C	CATGAACA others(347): Show CATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTG CTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCC TGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGA TGAGTTTCCTGGGTGCTGCTGGAGAGGCATGAACAAGCGCCACGTGAACA CGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCC ATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGA ACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGA GAGGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01884.hp1 HG02809.hp2 others(6): Show HG00738.hp1 HG01884.hp1 HG02809.hp2 HG03654.hp2 HG06807.hp1 NA18939.hp2 NA18983.hp1 NA19079.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0001t0001 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0115 others(6): Show a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0115 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0165 a0001c0001t0004g0129 a0001c0002t0002g0025 a0001c0002t0002g0064	9	180	0.0500	354	c.638 others(371): Show c.638-2605_638-2604insGGTGCCATGTGAACACGGCAGTGATGAG TTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGC AGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGT GAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGCATGAACAA GCGCCACGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGG AATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTG CTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCC TGGGTGCTGCTGGAGAGGAATGAACA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168596206	C C	CATGAACA others(347): Show CATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTG CTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCC TGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGA TGAGTTTCCTGGGTGCTGCTGGAGAGGCATGAACAAGCGCCACGTGAACA CGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCC ATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGCATGA ACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGA GAGGA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	180	0.0056	354	c.638 others(371): Show c.638-2605_638-2604insGGTGCCATGTGAACACGGCAGTGATGAG TTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGC AGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGT GAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGCATGAACAA GCGCCACGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGG AATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTG CTGGAGAGGCATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCC TGGGTGCTGCTGGAGAGGAATGAACA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168596265	A A	AATGAACA others(347): Show AATGAACAAGCGCCACGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTG CTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCC TGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGA TGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACA CGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCC ATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGA ACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGA GAGGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02809.hp1 others(4): Show HG01884.hp2 HG01891.hp1 HG02809.hp1 HG02976.hp2 HG03209.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0002t0014 a0001c0008t0002	a0001c0001t0001g0077 a0001c0001t0001g0114 a0001c0001t0006g0128 others(4): Show a0001c0001t0001g0077 a0001c0001t0001g0114 a0001c0001t0006g0128 a0001c0002t0002g0004 a0001c0002t0002g0036 a0001c0002t0014g0005 a0001c0008t0002g0042	7	180	0.0389	354	c.638 others(371): Show c.638-2546_638-2545insAGCGCCACGTGAACACGGCAGTGATGAG TTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGC AGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGT GAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAG GTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGG AATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTG CTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCC TGGGTGCTGCTGGAGAGGCATGAACA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168596339	T T	TGTGAACA others(347): Show TGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGCATGAA CAAGCGCCACGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAG AGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTG CTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTT TCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAG TGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGA ACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGT GCCAC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	180	0.0056	354	c.638 others(371): Show c.638-2436_638-2435insCATGAACAAGCGCCACGTGAACACGGCA GTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTG AACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGG TGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGA ATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGC TGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCT GGGTGCTGCTGGAGAGGAATGAACAGGTGCCACGTGAACACGGCAGTGAT GAGTTTCCTGGGTGCTGCTGGAGAGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246066398	T T	TAAGAATT others(347): Show TAAGAATTAGTCTTCCGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0127 a0002c0004t0001g0127	1	150	0.0067	354	c.532 others(375): Show c.532-136462_532-136461insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCCGGAAGACTAATTCTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNX6_chr14_34556093_34635148	34557538	C C	CCTTCTTC others(347): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0307 a0001c0001t0003g0307	1	322	0.0031	354	c.55 others(365): Show c.5583_*5584insAAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAG	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3554		chr14	TogoVar
SPADH_chr10_122667850_122684494	122681820	T T	TGGAGATA others(347): Show TGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCG TGTGTGAACTGGAGATAGAAACATCAGAACTTTTACCTCTGTCAACCATG GTTTTCTCGTGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTG TCAACCATGGTTTCCTCACGTGTGAACTGGAGATAGAAACATCAGACCTT TTACCTCTGTCAACCATGGTTTCCTCATGTGTGAACTGGAGATAGAAACA TCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAACTGGAG ATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCGTGTGT GAACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02895.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	414	0.0048	354	c.27 others(365): Show c.2772_*2773insGGAGATAGAAACATCAGACCTTTTACCTCTGTCA ACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACATCAGAACTTTTA CCTCTGTCAACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACATCA GACCTTTTACCTCTGTCAACCATGGTTTCCTCACGTGTGAACTGGAGATA GAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCATGTGTGAA CTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTC GTGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCAT GGTTTCCTCGTGTGTGAACC	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		2327		chr10	TogoVar
SPADH_chr10_122667850_122684494	122681879	T T	TGGAGATA others(347): Show TGGAGATAGAAACATCAGAACTTTTACCTCTGTCAACCATGGTTTTCTCG TGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATG GTTTCCTCACGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTG TCAACCATGGTTTCCTCATGTGTGAACTGGAGATAGAAACATCAGACCTT TTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACA TCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCGTGTGTGAACCGGAG ATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCGTGTGT GAACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02572.hp1 others(6): Show HG02257.hp2 HG02451.hp1 HG02572.hp1 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0023 a0001c0001t0003g0003 a0001c0001t0003g0023	9	414	0.0217	354	c.28 others(365): Show c.2831_*2832insGGAGATAGAAACATCAGAACTTTTACCTCTGTCA ACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACATCAGACCTTTTA CCTCTGTCAACCATGGTTTCCTCACGTGTGAACTGGAGATAGAAACATCA GACCTTTTACCTCTGTCAACCATGGTTTCCTCATGTGTGAACTGGAGATA GAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAA CTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTC GTGTGTGAACCGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCAT GGTTTTCTCGTGTGTGAACC	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		2386		chr10	TogoVar
SPADH_chr10_122667850_122684494	122681879	T T	TGGAGATA others(347): Show TGGAGATAGAAACATCAGAACTTTTACCTCTGTCAACCATGGTTTTCTCG TGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATG GTTTCCTCACGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTG TCAACCATGGTTTCCTCGTGTGTGAACTGGAGATAGAAACATCAGACCTT TTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACA TCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCGTGTGTGAACCGGAG ATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCGTGTGT GAACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG02109.hp1 HG02630.hp2 others(2): Show HG01192.hp1 HG02109.hp1 HG02630.hp2 HG02717.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	5	414	0.0121	354	c.28 others(365): Show c.2831_*2832insGGAGATAGAAACATCAGAACTTTTACCTCTGTCA ACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACATCAGACCTTTTA CCTCTGTCAACCATGGTTTCCTCACGTGTGAACTGGAGATAGAAACATCA GACCTTTTACCTCTGTCAACCATGGTTTCCTCGTGTGTGAACTGGAGATA GAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAA CTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTC GTGTGTGAACCGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCAT GGTTTTCTCGTGTGTGAACC	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		2386		chr10	TogoVar
SPADH_chr10_122667850_122684494	122681879	T T	TGGAGATA others(347): Show TGGAGATAGAAACATCAGAACTTTTACCTCTGTCAACCATGGTTTTCTCG TGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATG GTTTCCTCATGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTG TCAACCATGGTTTCCTCATGTGTGAACTGGAGATAGAAACATCAGACCTT TTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACA TCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCGTGTGTGAACCGGAG ATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCGTGTGT GAACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02622.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	414	0.0048	354	c.28 others(365): Show c.2831_*2832insGGAGATAGAAACATCAGAACTTTTACCTCTGTCA ACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACATCAGACCTTTTA CCTCTGTCAACCATGGTTTCCTCATGTGTGAACTGGAGATAGAAACATCA GACCTTTTACCTCTGTCAACCATGGTTTCCTCATGTGTGAACTGGAGATA GAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAA CTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTC GTGTGTGAACCGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCAT GGTTTTCTCGTGTGTGAACC	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		2386		chr10	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATATAAT others(347): Show CATATAATGATATACAATATATATCATTATATAACATAATGATATATATT ATATATCATTATATAACATATAATGATATATATTATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA TATCATTATATAACATATAATGATATATATATCATTATATAACATATAAT GATATATATATCATTATATAACATATAATGATATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACAT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0287 a0001c0002t0009g0287	1	356	0.0028	354	c.-11 others(375): Show c.-112+29091_-112+29092insTAATGATATACAATATATATCATT ATATAACATAATGATATATATTATATATCATTATATAACATATAATGATA TATATTATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATATATCATTATATAACATATAATGATATAT ATATCATTATATAACATATAATGATATATATATCATTATATAACATATAA TGATATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(347): Show AGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0141 a0003c0003t0002g0141	1	260	0.0039	354	c.138 others(373): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(347): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGCATATATGTGAGTATATGTGCATATATACGCATATATGTGTGTATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	188	0.0053	354	c.152 others(373): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGAGTATATGTGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(347): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGAGTATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	188	0.0053	354	c.152 others(373): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGAGTATATGTGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGAGTATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCGCC others(347): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCACCCTGGCCCCGCCCCC GCCCAGTGCCCCGCCCCCTGCCTGCTGCTTGCCCTGCCCCCTCCCCGGCC CCTGCCCGCTCCGAGCTCCGCCCCGGCCCCGCCCCGGCCCAGTGCCCCGC CCCGGCCCAGTGCCCCGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCC GGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCC CCGCCCCCTGCCTGCTGCTTGCCCTGCCCCCTCCCCGGCCCCTGCCCGCT CCGAGCTCCGCCCCGGCCTCGCCCCGGCCCCTGCCCGCTCCGAGCTTCGC CCCGG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp2 HG01361.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0208 a0001c0001t0001g0159 a0001c0001t0001g0208	2	388	0.0052	354	c.483 others(367): Show c.483+92_483+93insCCGGGGCGAAGCTCGGAGCGGGCAGGGGCCGG GGCGAGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGAGGGGGCAG GGCAAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGC GGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGC AGGGGGCGGGGCACTGGGCCGGGGCGGGGCACTGGGCCGGGGCGGGGCCG GGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGAGGGGGCAGGGCAAGCAGC AGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGTGGAGCTCGGA GCGGGCAGGGGCCGGGGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
STT3A_chr11_125587852_125628091	125618738	T T	TTGCATAT others(347): Show TTGCATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02818.hp1 HG02809.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0177 a0001c0001t0001g0178	2	360	0.0056	354	c.196 others(371): Show c.1963+190_1963+191insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTGCATATTTTTTT	STT3A	ENSG00000134910.14	transcript	ENST00000392708.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(347): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT AATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATAACTATATAT TATATATAATATATATATTATATATAATATAACTATATATTATATATAAT ATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	268	0.0037	354	c.73 others(365): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATAATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATAACTATATATTATATATAATATATATATTATATATAATATAACTA TATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(347): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATAATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATAACTATATAT TATATATAATATATATATTATATATAATATAACTATATATTATATATAAT ATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG02486.hp1 HG00741.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0181 a0001c0001t0009g0192 a0001c0001t0003g0181 a0001c0001t0009g0192	2	268	0.0075	354	c.73 others(365): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATAATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATAACTATATATTATATATAATATATATATTATATATAATATAACTA TATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(347): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATAACTATATAT TATATATAATATATATATTATATATAATATAACTATATATTATATATAAT ATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	268	0.0037	354	c.73 others(365): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATAACTATATATTATATATAATATATATATTATATATAATATAACTA TATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGGGT others(347): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGG GTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCGC CTGGCCAGCCGCCCCATCCGGGAGGGGGGGGGGTCAGCCCCCCGCCCGGC CAGCCACCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGA GGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA19005.hp1 NA18949.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0019 a0001c0001t0012 a0001c0001t0019	a0001c0001t0012g0118 a0001c0001t0019g0093 a0001c0001t0012g0118 a0001c0001t0019g0093	2	408	0.0049	354	c.-19 others(365): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCTC CCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCCCCACCTCC CTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGTGGCTGGCC GGGCGGGGGGCTGACCCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGGGT others(347): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGG GTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCC TGGCCAGCCGCCCCATCCGGGAGGGGGGGGGGTCAGCCCCCCGCCCGGCC AGCCACCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAG GTGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0081 a0001c0001t0011g0081	1	408	0.0025	354	c.-19 others(365): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCT CACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCT CCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCCCACCTCC CTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGTGGCTGGCC GGGCGGGGGGCTGACCCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGGTC others(347): Show GGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGG TGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCATCCAGGAGGGAGGTCGGGGGGGGTCAGCCCCCCGCCTG GCCAGCCGCCCCATCCGGGAGGGAGGGGGGGGGGTCAGCCCCCCGCCCGG CCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCGGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGG AGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0004	1	408	0.0025	354	c.-19 others(365): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCCGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCTCC CTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCGACCTC CCTCCTGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGTGGCTGGC CGGGCGGGGGGCTGACCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(347): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTAT ATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTATATAT ATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTATATAT ACACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATACGT GTGTA	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0004 a0006c0009t0004	a0006c0009t0004g0121 a0006c0009t0004g0121	1	392	0.0026	354	c.271 others(371): Show c.271-3774_271-3773insTACACACGTATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACACACGTATACACACGTATATATATACACGTGTATA TATACACACACGTATATATATACACGTGTATATATACACACACGTATATA TATACACGTGTATATATACACGTATATATATACACGTATATATACACACA CACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SYNPR_chr3_63273308_63621924	63313900	C C	CATATATA others(347): Show CATATATATATCCATATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATCCATATATATATCCATATATATA TATCCATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATATCCATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATATATCCATATATATATATATCCATATATATATATATC CATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	246	0.0041	354	c.84+ others(371): Show c.84+35182_84+35183insCCATATATATATCCATATATATATATCC ATATATATATCCATATATATATATCCATATATATATCCATATATATATAT CCATATATATATCCATATATATATATATCCATATATATATATATCCATAT ATATATATATCCATATATATATCCATATATATATATATCCATATATATAT ATATCCATATATATATATCCATATATATATATATCCATATATATATATAT CCATATATATATATATCCATATATATATATATCCATATATATATATATCC ATATATATATATATCCATATATATATATATCCATATATATATATATCCAT ATATATATATATCCATATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYTL3_chr6_158645054_158769871	158701295	G G	GATGAAGG others(347): Show GATGAAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAG TGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG AGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGGGGAGGAGCCGTGGG AAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAG CTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTG AGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTG TCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGG TGTAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	292	0.0034	354	c.395 others(371): Show c.395-5928_395-5927insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGG GGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTA GATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGG AGTGTGAGCTGGGGTGTACATGAAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(347): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGCTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGGGGGGGAGGGAGGGCGTGGGGGGGGGAGGGAGGGCGTGGGGGGAGGG AGGGGGCGGCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGGGGCGGCGGG GGGAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02109.hp2 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0117 a0001c0003t0001g0122 a0001c0003t0001g0117 a0001c0003t0001g0122	2	314	0.0064	354	c.309 others(373): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCCT CCCCCCCCCACGCCCTCCCTCCCCCCCCACGCCCTCCCTCCCCCCCGCCG CCCCCTCCCTCCCCCCACGCCCTCCATCCCCCTGCTGCACCCTCCCTCCC CCCCATGCCCTCCCTACCCCCGCCACCCCTCCCTCTCCCCGCCGCCCCCT CCCTCCCCCCACCACCCCCTCCTTTCCCCGCCGTCTCCTCCTTCCCCCCA CCACAGCCTCCCTCCCCCACCACACCCTCCCCCCACTGCACCCTCCCTCC CCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAFA4_chr3_68726766_68937547	68781188	C C	CAAGAAAG others(347): Show CAAGAAAGGTCCTAAGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18982.hp1 HG01891.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0268 a0001c0001t0001g0225 a0001c0001t0001g0268	2	316	0.0063	354	c.131 others(373): Show c.131-28171_131-28170insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGC CCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCC CTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCGACTTAGGACCTTTCTT	TAFA4	ENSG00000163377.16	transcript	ENST00000295569.12	protein_coding	3/5			chr3	TogoVar
TAFA5_chr22_48484553_48756932	48638361	C C	CCGACACT others(347): Show CCGACACTAAGCCCTGGGACACCGCACACGGGGGACCCCGACACTAAGCC CTGGGACACCGCACACAGCACCCCTCCCCCGACACTAAGCCCTGGGTCAC CGCACACAGGGGGGACCCCAACACTAAGCCCTGGGACACCACACACAGGG GGGACCCCGACACTAAGCCCTGGGACACCACACACAGGCGGGACCCCGAC ACTAAGCCCTGGGTCACCACACACAGGCAATACCCCTCCCCTGACACTAA GCCACACATAGGCAACAACCCCCCCCACACACTAAGCCCTGGGCCACACA CAGGCAATACCACCCCCCCCGACACTAAGCCCTGGGACACCGCACACAGG GGGGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01258.hp2 HG01952.hp1 others(5): Show HG00738.hp2 HG01258.hp2 HG01952.hp1 HG02015.hp1 HG02055.hp1 HG02602.hp1 HG03195.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0021 a0001c0001t0023	a0001c0001t0002g0188 a0001c0001t0002g0255 a0001c0001t0003g0122 others(5): Show a0001c0001t0002g0188 a0001c0001t0002g0255 a0001c0001t0003g0122 a0001c0001t0003g0160 a0001c0001t0006g0095 a0001c0001t0006g0208 a0001c0001t0021g0229 a0001c0001t0023g0116	8	258	0.0310	354	c.113 others(371): Show c.113-8235_113-8234insGACACTAAGCCCTGGGACACCGCACACG GGGGACCCCGACACTAAGCCCTGGGACACCGCACACAGCACCCCTCCCCC GACACTAAGCCCTGGGTCACCGCACACAGGGGGGACCCCAACACTAAGCC CTGGGACACCACACACAGGGGGGACCCCGACACTAAGCCCTGGGACACCA CACACAGGCGGGACCCCGACACTAAGCCCTGGGTCACCACACACAGGCAA TACCCCTCCCCTGACACTAAGCCACACATAGGCAACAACCCCCCCCACAC ACTAAGCCCTGGGCCACACACAGGCAATACCACCCCCCCCGACACTAAGC CCTGGGACACCGCACACAGGGGGGAC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D16_chr17_79927343_80040872	80024585	C C	CCACACAC others(347): Show CCACACACCACACACCATAGACACACACACCACACACCATAAGCACACAC ACCACACACACCATAGACACACATACCACACACCACACACCATACCACAC ACAACACACACCATAGACACACACACCATACACCATAGACACACATACCA CACACATCATAGACACACACACTACACATCATAGACACACACACCACACA CCAGACACACACCACACGCACCATAGACAAACCACACACACCATACACAC ACCACACACCATATACACACACACCACACACCACACACCATAGGCACACA CACCACACACCATAGGCACACACACCACACACCATAGATACACACACCAT AGACA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp2 HG02145.hp1 others(13): Show HG00639.hp2 HG02109.hp2 HG02145.hp1 HG02559.hp1 HG02647.hp2 HG02895.hp2 HG02896.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03486.hp2 HG03579.hp2 NA18522.hp2 NA19030.hp1 NA19240.hp1 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0008c0025	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(12): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0026 a0001c0001t0051 a0001c0001t0088 a0001c0001t0096 a0001c0001t0102 a0001c0001t0114 a0001c0002t0008 a0001c0002t0013 a0001c0002t0131 a0001c0005t0083 a0001c0005t0129 a0008c0025t0090	a0001c0001t0002g0287 a0001c0001t0008g0290 a0001c0001t0009g0282 others(13): Show a0001c0001t0002g0287 a0001c0001t0008g0290 a0001c0001t0009g0282 a0001c0001t0009g0283 a0001c0001t0026g0333 a0001c0001t0051g0281 a0001c0001t0088g0286 a0001c0001t0096g0285 a0001c0001t0102g0292 a0001c0001t0114g0288 a0001c0002t0008g0332 a0001c0002t0013g0289 a0001c0002t0131g0284 a0001c0005t0083g0221 a0001c0005t0129g0220 a0008c0025t0090g0291	16	334	0.0479	354	c.-62 others(373): Show c.-62-10977_-62-10976insTGTCTATGGTGTGTGTATCTATGGTG TGTGGTGTGTGTGCCTATGGTGTGTGGTGTGTGTGCCTATGGTGTGTGGT GTGTGGTGTGTGTGTATATGGTGTGTGGTGTGTGTATGGTGTGTGTGGTT TGTCTATGGTGCGTGTGGTGTGTGTCTGGTGTGTGGTGTGTGTGTCTATG ATGTGTAGTGTGTGTGTCTATGATGTGTGTGGTATGTGTGTCTATGGTGT ATGGTGTGTGTGTCTATGGTGTGTGTTGTGTGTGGTATGGTGTGTGGTGT GTGGTATGTGTGTCTATGGTGTGTGTGGTGTGTGTGCTTATGGTGTGTGG TGTGTGTGTCTATGGTGTGTGGTGTGTG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11			chr17	TogoVar
TBC1D22A_chr22_46757650_47180693	46772316	T T	TACACATA others(347): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACACATATA TATGTATACACACACACATATATATGTATACACACACATATATATGTATA CACACATACATATATATGTATACACACACATATATATGTATACACACACA TATATATGTATACACACATACATATATATGTATACACACATACATATATA TGTATACACACATACATATATATGTATACACACATACATATATATGTATA CACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03225.hp2 HG06807.hp2 HG02723.hp1 HG03225.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0045 a0001c0001t0004g0053 a0001c0001t0005g0050 a0001c0001t0004g0045 a0001c0001t0004g0053 a0001c0001t0005g0050	3	112	0.0268	354	c.62+ others(369): Show c.62+9469_62+9470insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACACATATATATGTATACACACACACATATATATGTATACA CACACATATATATGTATACACACATACATATATATGTATACACACACATA TATATGTATACACACACATATATATGTATACACACATACATATATATGTA TACACACATACATATATATGTATACACACATACATATATATGTATACACA CATACATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46772340	T T	TACACATA others(347): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACACATATA TATGTATACACACACACATATATATGTATACACACACATATATATGTATA CACACATACATATATATGTATACACACACATATATATGTATACACACACA TATATATGTATACACACATACATATATATGTATACACACATACATATATA TGTATACACACATACATATATATGTATACACACATACATATATATGTATA CACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	112	0.0089	354	c.62+ others(369): Show c.62+9493_62+9494insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACACATATATATGTATACACACACACATATATATGTATACA CACACATATATATGTATACACACATACATATATATGTATACACACACATA TATATGTATACACACACATATATATGTATACACACATACATATATATGTA TACACACATACATATATATGTATACACACATACATATATATGTATACACA CATACATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCEAL3_chrX_103602963_103614927	103614256	T T	TAAAAATA others(347): Show TAAAAATAAGAACAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGGGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCACGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	290	0.0035	354	c.45 others(365): Show c.4589_*4590insAAAAATAAGAACAGGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTC AGGAGATCGAGACCATCCTGGCTAACAAGGGGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCACGGTGGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTT GCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	TCEAL3	ENSG00000196507.11	transcript	ENST00000372627.10	protein_coding		4330		chrX	TogoVar
TERT_chr5_1248167_1300068	1273554	C C	CCACACAT others(347): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCTACAACCGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACTGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC AACCGCCATCCACAGTCACCACATCAGGCCCCACGACCGCCATCCACAGT CACCA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02965.hp2 HG03139.hp1 HG02257.hp1 HG02965.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0146 a0001c0001t0001g0004 a0001c0001t0001g0146	3	392	0.0077	354	c.228 others(373): Show c.2287-1275_2287-1274insTGGTGACTGTGGATGGCGGTCGTGGG GCCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTAGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TET3_chr2_73979910_74113176	74061209	C C	CCCTCCCG others(347): Show CCCTCCCGGACAGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACTT CCCTCCCGGATGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CAGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC AGGGCGGGGGACTGACCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCT GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0003 a0001c0003t0010g0003	1	252	0.0040	354	c.249 others(375): Show c.2495-12330_2495-12329insAGGGTGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACTTCCCTCCCGGATGGGGCGGCTGGCCAGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCAGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCAGGGCGGGGGACTGACCCCCCCACCTCCTTCCCGG ACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGAC	TET3	ENSG00000187605.16	transcript	ENST00000409262.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar

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