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
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(349): Show GGAGGAGGAGGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGAG GGAGGGAGGGGGAGGGAGGGAGGAGGAGGGAGGGGGAGGAGGGAGGGGGA GGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGA AGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAG GAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAA GGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGAAGGAGG AGGAGAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	396	0.0025	356	c.807 others(373): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCC TCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCC TCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTC CCTCCTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCCCTCCCTCCTCCT CCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCT CCCTCCCCCTCCCTCCTCCCTCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SEL1L2_chr20_13844247_13995614	13934390	T T	TATATATA others(349): Show TATATATATATTCCATATATATATATTCCATATATATATATTCCATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATATTCCATATATATATATTCCATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATATATTCCATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATTCCATATATATATATTCCATATATATATATTCCATA TATATATATTCCATATATATATATTCCATATATATATATTCCATATATAT ATATTCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0312 a0001c0004t0001g0312	1	324	0.0031	356	c.115 others(373): Show c.115-2620_115-2619insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATATGGAATATATATATAT GGAATATATATATATGGAATATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATATGGAATATATATATAT GGAATATATATATATGGAATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SIGIRR_chr11_400716_419999	401971	G G	GGCCCCGC others(349): Show GGCCCCGCTCACACCCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGC TCACCCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTC ACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACA CCCGGCCCCGCTCACACCCCGGCCCCCGCTCACACCCGCCCCGCTCACAC CCGCCCCGCTCACACCCCGCCCCGCTCACACCCGGCCCCGCTCACACCCC GCCCCGCTCACCCCCAGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	242	0.0041	356	c.39 others(367): Show c.3924_*3925insTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGA GCGGGGCTGGGGGTGAGCGGGGCGGGGTGTGAGCGGGGCCGGGTGTGAGC GGGGCGGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGG GCCGGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGC CGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGG GGGTGAGCGGGGCCGGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTG TGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAG CGGGGCGGGGTGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3744		chr11	TogoVar
SIK3_chr11_116838402_117103428	117066535	T T	TGGCCGGG others(349): Show TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAG AGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACGCG GTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGG CGGGCGCCTGTGGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCGCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA ACAATCC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0035 a0001c0001t0011g0035	1	366	0.0027	356	c.273 others(375): Show c.273+31607_273+31608insGGATTGTTTCTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCCGGGACCACAGGCGCCCGCCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGGCGGGGTTTCACCGCGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1069992	C C	CAGCCCCC others(349): Show CAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCC CCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACA CGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAT GCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCC CCCAGTG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0036 a0002c0004t0001g0036	1	118	0.0085	356	c.224 others(375): Show c.2241+3640_2241+3641insCACTGGGGGCTGCATAAGTGTGATGC CCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCT GGGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGT GCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGG CTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGG GGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCA TAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTG ATGCCGTGTGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(349): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCG GGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGCGGGGGGGCGGGAGGGGT GGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGGCGGG AGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAA GGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGGG CGGGAGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0195 a0001c0001t0014g0195	1	222	0.0045	356	c.914 others(375): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCCCGCCCCCCCC GCGTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCG CCCCCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCGCCCCCCCCGCCTCCC CCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCACCCCTCCCGCCCCCCCGC CCCCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCC TCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTC CCGCCTCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCC CCCCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(349): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCG GGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGGCGG GAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGGCGGGGGGGAGGGAGGGG AAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGG CAGGAGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0192	1	222	0.0045	356	c.914 others(375): Show c.914-32089_914-32088insCCTCCTGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCGCCCCCCCCGCCTCCCC CCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCC CCCCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCC TCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTC CCGCCTCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCC CCCCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(349): Show CTATCCTTGCTTTTATTTATTTATTTATTATTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0373 a0001c0001t0005g0373	1	410	0.0024	356	c.-26 others(375): Show c.-263-2255_-263-2254insTTATTTATTTATTATTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCGGACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCTTATCCTTGCTTTTAT	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC33A1_chr3_155816024_155859427	155856905	C C	CAAGAATA others(349): Show CAAGAATATTATAAAAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0362 a0002c0002t0019g0362	1	392	0.0026	356	c.-29 others(367): Show c.-2909_-2908insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCCACTTTTATAATATTCTT	SLC33A1	ENSG00000169359.16	transcript	ENST00000643144.2	protein_coding		2479		chr3	TogoVar
SLC35F1_chr6_117902264_118322671	117923737	A A	ATACATAT others(349): Show ATACATATATGTACATATGTACATATATACATATGTATATATACATATAT GTACATATATACATATGTATATATACATATATGTACATATGTACATATAT ACATATGTACATATATACATATGTATATATACATATATGTACATATGTAC ATATATACATATGTACATATATACATATGTATATATACATATATGTACAT ATGTACATATATACATATGTATATATACATATATGTACATATGTACATAT ATACATATACATATGTACATATACACATATACATATGTATATATACATAT ATGTACACATGTACATATACATATGTATATATGTACATATGTACATATAT GTATATG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0162 a0001c0001t0023g0162	1	182	0.0055	356	c.173 others(375): Show c.173+15855_173+15856insGTACATATATACATATGTATATATAC ATATATGTACATATATACATATGTATATATACATATATGTACATATGTAC ATATATACATATGTACATATATACATATGTATATATACATATATGTACAT ATGTACATATATACATATGTACATATATACATATGTATATATACATATAT GTACATATGTACATATATACATATGTATATATACATATATGTACATATGT ACATATATACATATACATATGTACATATACACATATACATATGTATATAT ACATATATGTACACATGTACATATACATATGTATATATGTACATATGTAC ATATATGTATATGTACATATATGTACATAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC44A5_chr1_75197129_75616114	75280434	T T	TTATATAT others(349): Show TTATATATTGTATATATAATATATATATTGTATATATTATATATTGTATA TATAATATATATAGTATATATTATATATTGTATATATAATATATATATTG TATATATTATATATTGTATATATAATATATATATTGTATATATTATATAT TGTATATATAATATATATATTGTATATATTATATATTGTATATATAATAT ATATTGTATATATTATATATTGTATATATAATATATATATTGTATATATT ATATATTGTATATATAATATATATATTGTATATATTATATATTGTATATA TAATATATATATTGTATATATTATATATTGTATATATAATATATATATTG TATATAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	156	0.0064	356	c.176 others(373): Show c.176-5393_176-5392insTTATATACAATATATATATTATATATAC AATATATAATATATACAATATATATATTATATATACAATATATAATATAT ACAATATATATATTATATATACAATATATAATATATACAATATATATATT ATATATACAATATATAATATATACAATATATATTATATATACAATATATA ATATATACAATATATATATTATATATACAATATATAATATATACAATATA TATATTATATATACAATATATAATATATACAATATATATATTATATATAC AATATATAATATATACTATATATATTATATATACAATATATAATATATAC AATATATATATTATATATACAATATATA	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC5A9_chr1_48217716_48253638	48244731	A A	ATATTTAT others(349): Show ATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTT ATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTA TATATAAATTATATTTATATTATATATAAATTATATTTATATTATATATA AATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTAT ATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTAT ATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTATA TATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAA TTATATT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0221 a0002c0002t0002g0221	1	420	0.0024	356	c.183 others(375): Show c.1837+2118_1837+2119insTTATATTATATATAAATTATATTTAT ATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTATA TATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAA TTATATTTATATTATATATAAATTATATTTATATTATATATAAATTATAT TTATATTATATATAAATTATATTTATATTATATATAAATTATATTTATAT TATATATAAATTATATTTATATTATATATAAATTATATTTATATTATATA TAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAATT ATATTTATATTATATATAAATTATATTTAT	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(349): Show TTATATATAAATTATATTTATATTATATATAAATTATATTTATATTATAT ATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAAT TATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATT TATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATT ATATATAAATTATATTTATATTATATATAAATTATATTTATATTATATAT AAATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTA TATTTATATTATATATAAATTATATTTATATTATATATATAAATTATATT TATATTA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0235 a0002c0002t0003g0235	1	420	0.0024	356	c.183 others(375): Show c.1837+2216_1837+2217insAATTATATTTATATTATATATAAATT ATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTT ATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTA TATATAAATTATATTTATATTATATATAAATTATATTTATATTATATATA AATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTAT ATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTAT ATTATATATAAATTATATTTATATTATATATATAAATTATATTTATATTA TATATATAAATTATATTTATATTATATATA	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLCO3A1_chr15_91848708_92170903	92143422	A A	ATTATATA others(349): Show ATTATATATAAAATATATATATTATATAATATATATATAAAATATATATT ATATAATATATATAAAATATATATATTATATAATATATATATAAAATATA TATATTATATATTATATAATATATATATAAAATATATATAATATATAATA TATGTAATATTATATATATTATATATTATATATATTATATATTATATATA TTATATATAATATATATTATATATTATATATATTATATATAATATATATT ATATATTATATATATTATATATAATATATTATATATAATATATATAATAT ATTATATATAATATATATAATATATTATATATATTATATATAATATATTA TATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02486.hp2 HG00642.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0071 a0001c0002t0003g0072 a0001c0001t0003g0071 a0001c0002t0003g0072	2	190	0.0105	356	c.151 others(375): Show c.1513-3561_1513-3560insTATATATAAAATATATATATTATATA ATATATATATAAAATATATATTATATAATATATATAAAATATATATATTA TATAATATATATATAAAATATATATATTATATATTATATAATATATATAT AAAATATATATAATATATAATATATGTAATATTATATATATTATATATTA TATATATTATATATTATATATATTATATATAATATATATTATATATTATA TATATTATATATAATATATATTATATATTATATATATTATATATAATATA TTATATATAATATATATAATATATTATATATAATATATATAATATATTAT ATATATTATATATAATATATTATATATATT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD9_chr13_36839831_36925238	36891157	T T	TAAAAACA others(349): Show TAAAAACATGTTACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAGCCTGGGCGACAAAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0340 a0001c0001t0090g0340	1	358	0.0028	356	c.-18 others(377): Show c.-186-11283_-186-11282insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCGTAACATGTTTTT	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/6			chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190256	T T	TATATATC others(349): Show TATATATCATTATATAACATATAACGATATATAATATATATCATTATATA ACATATAACGATATATAATATATATCATTATATAACATATAACGATATAT AATATATATCATTATATAACATATAACGATATATAATATATATCATTATA TAACATATAATGATATATAATATATATCATTATATAACATATAATGATAT ATAATATATATCATTATATAACATATAATGATATATAATATATATCATTA TATAACATATAATGATATATAATATATATCATTATATAACATATAATGAT ATATAATATATATCATATAACATATGATATATAATATATATTATTATATA ACATATG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0076 a0001c0001t0005g0076	1	356	0.0028	356	c.-11 others(377): Show c.-112+29327_-112+29328insTATCATTATATAACATATAACGAT ATATAATATATATCATTATATAACATATAACGATATATAATATATATCAT TATATAACATATAACGATATATAATATATATCATTATATAACATATAACG ATATATAATATATATCATTATATAACATATAATGATATATAATATATATC ATTATATAACATATAATGATATATAATATATATCATTATATAACATATAA TGATATATAATATATATCATTATATAACATATAATGATATATAATATATA TCATTATATAACATATAATGATATATAATATATATCATATAACATATGAT ATATAATATATATTATTATATAACATATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPEF2_chr5_35612863_35819611	35713939	A A	ATATATTA others(349): Show ATATATTATATATTTTATATATAGTATATATATTATATATTTTATATATA GTATATATATTATATATTTTATATATAGTATATATATTATATATATTATA TATTTTATATATAGTATATATATTATATATATTATATATTTTATATATAG TATATATATTACATATATATTATATATTTTATATATAGTATATATATTAC ATATAGTATTATATATTTTTTATATAGTATATATATTACATATAGTATTA TATATTTTATATATAGTATATATATTACATATAGTATTATATATTTTATA TATAGTATATATATTACGTATAGTATTATATATTTTATATATAGCATATA TATTACG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0140 a0010c0015t0001g0140	1	268	0.0037	356	c.291 others(375): Show c.2914+1057_2914+1058insTTATATATTTTATATATAGTATATAT ATTATATATTTTATATATAGTATATATATTATATATTTTATATATAGTAT ATATATTATATATATTATATATTTTATATATAGTATATATATTATATATA TTATATATTTTATATATAGTATATATATTACATATATATTATATATTTTA TATATAGTATATATATTACATATAGTATTATATATTTTTTATATAGTATA TATATTACATATAGTATTATATATTTTATATATAGTATATATATTACATA TAGTATTATATATTTTATATATAGTATATATATTACGTATAGTATTATAT ATTTTATATATAGCATATATATTACGTATA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPNS3_chr17_4428940_4493204	4462390	C C	CACCAATC others(349): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCA CCAATCT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0005 a0001c0009t0001g0005	1	362	0.0028	356	c.111 others(375): Show c.1113+9186_1113+9187insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCATCCACCCACC CACCTACCCACCCATCCATCCACCAATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462394	C C	CACCAATC others(349): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCA CCAATCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG03927.hp1 others(4): Show HG00323.hp1 HG00639.hp2 HG03927.hp1 HG04115.hp1 NA19054.hp1 NA19081.hp1 NA19087.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0001c0009 a0001c0024 others(2): Show a0001c0003 a0001c0009 a0001c0024 a0001c0045 a0005c0015	a0001c0003t0001 a0001c0009t0001 a0001c0024t0003 others(2): Show a0001c0003t0001 a0001c0009t0001 a0001c0024t0003 a0001c0045t0003 a0005c0015t0003	a0001c0003t0001g0134 a0001c0003t0001g0241 a0001c0003t0001g0310 others(4): Show a0001c0003t0001g0134 a0001c0003t0001g0241 a0001c0003t0001g0310 a0001c0009t0001g0004 a0001c0024t0003g0057 a0001c0045t0003g0152 a0005c0015t0003g0155	7	362	0.0193	356	c.111 others(375): Show c.1113+9190_1113+9191insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCATCCACCCACC CACCTACCCACCCATCCATCCACCAATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462398	C C	CACCAATC others(349): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCA CCAATCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA20905.hp2 HG00099.hp1 NA20905.hp2	a0001 a0001	a0001c0009 a0001c0028 a0001c0009 a0001c0028	a0001c0009t0001 a0001c0028t0003 a0001c0009t0001 a0001c0028t0003	a0001c0009t0001g0058 a0001c0028t0003g0175 a0001c0009t0001g0058 a0001c0028t0003g0175	2	362	0.0055	356	c.111 others(375): Show c.1113+9194_1113+9195insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCATCCACCCACC CACCTACCCACCCATCCATCCACCAATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462558	C C	CACCAATC others(349): Show CACCAATCCATCCACCCACCCATCCACCAATCCATCCATCCACCCACCCA CCCACCCACCCACCAATGCATCCATCCACCCACCCACCCACCCACCCACC CATCCATCCACCAGTCTATCAATCCATCTATCCATCCATCCACCAATCCA TCCATCCATCCATCCATCCATCCATCCATCCACCAGTCTATCAATCCATC TATCCATCCATCCACCAATCCATCCATCCATCCATCCATCCACCCATCCA CCAATCCATCCATCCACCAATCCATCCATCTACCCACCCACCAATCCATC CATCCATCCATCCATCCACCCACCCACCCACCCACCCACCCATTCATCCA CCAATCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp1 HG01516.hp2 others(4): Show HG00639.hp1 HG01175.hp1 HG01516.hp2 HG02148.hp2 HG03490.hp1 HG03492.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0007 a0001c0010 others(1): Show a0001c0003 a0001c0007 a0001c0010 a0003c0029	a0001c0003t0002 a0001c0007t0003 a0001c0010t0001 others(2): Show a0001c0003t0002 a0001c0007t0003 a0001c0010t0001 a0001c0010t0002 a0003c0029t0003	a0001c0003t0002g0258 a0001c0007t0003g0165 a0001c0010t0001g0084 others(4): Show a0001c0003t0002g0258 a0001c0007t0003g0165 a0001c0010t0001g0084 a0001c0010t0002g0081 a0001c0010t0002g0087 a0001c0010t0002g0088 a0003c0029t0003g0085	7	362	0.0193	356	c.111 others(375): Show c.1113+9354_1113+9355insCCAATCCATCCACCCACCCATCCACC AATCCATCCATCCACCCACCCACCCACCCACCCACCAATGCATCCATCCA CCCACCCACCCACCCACCCACCCATCCATCCACCAGTCTATCAATCCATC TATCCATCCATCCACCAATCCATCCATCCATCCATCCATCCATCCATCCA TCCACCAGTCTATCAATCCATCTATCCATCCATCCACCAATCCATCCATC CATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCATCCA TCTACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC CACCCACCCACCCATTCATCCACCAATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SRXN1_chr20_641615_658200	641971	G G	GGGGGGGG others(349): Show GGGGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGTGG GGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGAGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGG GGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGA GTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	422	0.0024	356	c.67 others(367): Show c.6742_*6743insAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCA GGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGG GCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTC CACCCCCGCTGGGGCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4643		chr20	TogoVar
STX7_chr6_132440867_132518116	132514117	T T	TGAAAGGA others(349): Show TGAAAGGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGG GGTTTCAACGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0226 a0001c0001t0096g0226	1	380	0.0026	356	c.-11 others(367): Show c.-1170_-1169insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGTTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGATCCTTTC	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding		1002		chr6	TogoVar
STXBP4_chr17_54963765_55178632	55038729	T T	TCATAGTA others(349): Show TCATAGTATGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03130.hp2 HG01243.hp1 HG03130.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0015 a0003c0004t0076 a0003c0004t0015 a0003c0004t0076	a0003c0004t0015g0370 a0003c0004t0076g0371 a0003c0004t0015g0370 a0003c0004t0076g0371	2	378	0.0053	356	c.855 others(373): Show c.855+4484_855+4485insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCCATAGTATGATTTT	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATATACA others(349): Show TATATACACATATGTGTACATATGTGTATATATACATATATATACACATA TATATGTATATATACACATATGTGAATATGTATATATGTGTTATATATAC ACATATGTGTATATATACATATATACACATATGTGTATATATACATATAT ACATATACACATATGTGTATATATACATATATACATATACACATATGTGT ATATATAACACATATATACACATATGTGTATATATAACACATATATACAC ATATGTGTATATATAACACATATATACACATATGTGTATATATAACACAT ATATACACATATGTGTATATATACATATATACATATACACATATGTGTAT ATATAAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0356 a0001c0001t0005g0357 a0001c0001t0005g0356 a0001c0001t0005g0357	2	376	0.0053	356	c.158 others(375): Show c.1582-2860_1582-2859insCACATATGTGTACATATGTGTATATA TACATATATATACACATATATATGTATATATACACATATGTGAATATGTA TATATGTGTTATATATACACATATGTGTATATATACATATATACACATAT GTGTATATATACATATATACATATACACATATGTGTATATATACATATAT ACATATACACATATGTGTATATATAACACATATATACACATATGTGTATA TATAACACATATATACACATATGTGTATATATAACACATATATACACATA TGTGTATATATAACACATATATACACATATGTGTATATATACATATATAC ATATACACATATGTGTATATATAACATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYNPR_chr3_63273308_63621924	63313900	C C	CATATATA others(349): Show CATATATATATCCATATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATCCATATATATATCCATATATATA TATCCATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATATCCATATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATATCCATATATATATA TATCCAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	246	0.0041	356	c.84+ others(373): Show c.84+35182_84+35183insCCATATATATATCCATATATATATATCC ATATATATATCCATATATATATATCCATATATATATCCATATATATATAT CCATATATATATCCATATATATATATATCCATATATATATATATCCATAT ATATATATATCCATATATATATATATCCATATATATATATATCCATATAT ATATATCCATATATATATATATCCATATATATATATATCCATATATATAT ATATCCATATATATATATATCCATATATATATATATCCATATATATATAT ATCCATATATATATATATCCATATATATATATATCCATATATATATATAT CCATATATATATATCCATATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAFA4_chr3_68726766_68937547	68781188	C C	CAAGAAAG others(349): Show CAAGAAAGGTCCTAAGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	316	0.0032	356	c.131 others(375): Show c.131-28171_131-28170insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCC CCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCGACTTAGGACCTTTCTT	TAFA4	ENSG00000163377.16	transcript	ENST00000295569.12	protein_coding	3/5			chr3	TogoVar
TBC1D32_chr6_121074494_121339480	121255520	T T	TTTATAAT others(349): Show TTTATAATTATATTTATAATTATATTTTATAATTATATTTATAATTATAT TTTATAATTATATTTATAATTATATTTTATAATTATATTTATAATTATAT TTTATAATTATATTTATAATTATATTTTATAATTATATTTATAATTATAT TTTATAATTATATTTATAATTATATTTTATAATTATATTTATAATTATAT TTTATAATTATATTTATAATTATATTTTATAATTATATTTATAATTATAT TTTATAATTATATTTATAATTATATTTTATAATTATATTTATAATTATAT TTTATAATTATATTTATAATTATATTTTATAATTATATTTATAATTATAT TTTATAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18940.hp1 NA19067.hp1 HG01496.hp2 NA18940.hp1 NA19067.hp1	a0003 a0003	a0003c0004 a0003c0012 a0003c0004 a0003c0012	a0003c0004t0003 a0003c0012t0011 a0003c0004t0003 a0003c0012t0011	a0003c0004t0003g0016 a0003c0004t0003g0076 a0003c0012t0011g0004 a0003c0004t0003g0016 a0003c0004t0003g0076 a0003c0012t0011g0004	3	292	0.0103	356	c.193 others(373): Show c.1936-111_1936-110insTTATAAAATATAATTATAAATATAATTA TAAAATATAATTATAAATATAATTATAAAATATAATTATAAATATAATTA TAAAATATAATTATAAATATAATTATAAAATATAATTATAAATATAATTA TAAAATATAATTATAAATATAATTATAAAATATAATTATAAATATAATTA TAAAATATAATTATAAATATAATTATAAAATATAATTATAAATATAATTA TAAAATATAATTATAAATATAATTATAAAATATAATTATAAATATAATTA TAAAATATAATTATAAATATAATTATAAAATATAATTATAAATATAATTA TAAAATATAATTATAAATATAATTATAA	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	16/31			chr6	TogoVar
TERT_chr5_1248167_1300068	1273332	A A	ACACATCA others(349): Show ACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACTGCCATCCA CAGTCACCACACATCAGACCCTACGACCGCCATCCACAGTCACCACACAT CAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGC CATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0376 a0001c0001t0001g0376	1	392	0.0026	356	c.228 others(375): Show c.2287-1053_2287-1052insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THADA_chr2_43225851_43601038	43297789	C C	CCGCCCGG others(349): Show CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCC TGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGATGGAGGTGGGGGGGGATCAGCCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGTGTGTCA GCCCCCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0158 a0001c0006t0001g0158	1	206	0.0049	356	c.443 others(375): Show c.4439-4577_4439-4576insTGGGGGCTGACACACCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCTGATCCCCCCCCACCTCCATCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43297789	C C	CGCCCGGC others(349): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCC TGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGATGGAGGTGGGGGGGGATCAGCCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGTGTGTCA GCCCCCA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0016 a0016	a0016c0035 a0016c0035	a0016c0035t0001 a0016c0035t0001	a0016c0035t0001g0196 a0016c0035t0001g0196	1	206	0.0049	356	c.443 others(375): Show c.4439-4577_4439-4576insTGGGGGCTGACACACCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCTGATCCCCCCCCACCTCCATCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCCGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGC	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
TH_chr11_2158929_2176815	2161678	G G	GACCCCTG others(349): Show GACCCCTGTCCCCACACCCCTATCCCCAGACCCCTGTCCCCAGGACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAG ACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTG TCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	388	0.0026	356	c.25 others(367): Show c.2554_*2555insGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGG GACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGG GTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGG ACAGGGGTCCTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGG TGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGG ATAGGGGTGTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2250		chr11	TogoVar
TM4SF19_chr3_196318547_196343388	196334965	G G	GATGCCCT others(349): Show GATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGG GTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGA AGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCT GAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGT AGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGG GTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGT GGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGG GAAGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	370	0.0027	356	c.-2+ others(371): Show c.-2+3298_-2+3299insTCCCTTCCCTCTCCTACACCCACCCTCCCA GTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCC TCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCAC CTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCC CTCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTAC ACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAG GGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTC TCCTAACCCCCACCTTCTCAGGGCAT	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(349): Show TTATATATACATATATATTCTTTTATATATTTATATATAAATATATATTC TTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATATAA ATATATATTTTTATATATTTATATATAAATATATATTCTTTTATATATTT ATATATATATTTATATATAAATATATATTCTTTTATATATTTATATATAT ATTTATATATAAATATATATTCTTTTATATATATATATAAATATATATTC TTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATATAA ATATATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATAT TTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	348	0.0029	356	c.11 others(369): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATAAATATATAAAAGAATATATATTTATATATATATATA AAAGAATATATATTTATATATAAATATATATATAAATATATAAAAGAATA TATATTTATATATAAATATATATATAAATATATAAAAGAATATATATTTA TATATAAATATATAAAAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATAAATATATAAAAGAATATATATTTATATATAAATATA TAAAAGAATATATATGTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(349): Show TTATATATACATATATATTCTTTTATATATTTATATATACATATATATTC TTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATATAA ATATATATTCTTTTATATATTTATATATAAATATATATTTTTATATATTT ATATATAAATATATATTCTTTTATATATTTATATATATATTTATATATAA ATATATATTCTTTTATATATTTATATATATATTTATATATAAATATATAT TCTTTTATATATATATATAAATATATATTCTTTTATATATTTATATATAA ATATATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATAT TTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	348	0.0029	356	c.11 others(369): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATATATATAAAAGAATATATATTTATATATAAATATATA TATAAATATATAAAAGAATATATATTTATATATAAATATATATATAAATA TATAAAAGAATATATATTTATATATAAATATATAAAAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATAAATATATAAAAGAATATATATGTATATATAAATATA TAAAAGAATATATATGTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GGTTAGGG others(349): Show GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTA GGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGC CAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGG GGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTA GGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGC CAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	466	0.0022	356	c.49 others(367): Show c.4905_*4906insACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCC TCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCGGCCT CCCTAACCCCAGCCTCCCTAAC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TPSD1_chr16_1251069_1264008	1258679	C C	CTGAGCCC others(349): Show CTGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCCCTGC TCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGAGC CCCTCATCCATCCTGAGCCCCTTCTCCATCCTGAGCCCCCTCCCCCATCC TGGACCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCCTCC CCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGT CCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACC CTGAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCCCTCC CCTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0076 a0003c0003t0076	a0003c0003t0076g0003 a0003c0003t0076g0003	1	270	0.0037	356	c.31 others(365): Show c.311_*312insCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCC CCTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCT TGAGCCCCTCATCCATCCTGAGCCCCTTCTCCATCCTGAGCCCCCTCCCC CATCCTGGACCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCC CCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCT TGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCCCTCCC CCACCCTGAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCC CCTCCCCTTTCTTGAGCCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TPSD1_chr16_1251069_1264008	1258679	C C	CTGAGCCC others(349): Show CTGAGCCCCCTCCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCCCTG CTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGAG CCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCATC CTGGGCCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCCTC CCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAG TCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCACC CTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCCCTCC CCTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0093 a0002c0002t0093	a0002c0002t0093g0002 a0002c0002t0093g0002	1	270	0.0037	356	c.31 others(365): Show c.311_*312insCTCCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGC CCCTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTC TTGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCC CCATCCTGGGCCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCC CCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTC TTGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCCTCCT CCACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCC CCTCCCCTTTCTTGAGCCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TPSD1_chr16_1251069_1264008	1258683	G G	GCCCCCTC others(349): Show GCCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCCCTGCTCCA TCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGAGCCCCT TATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCATCCTGGA CCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTT TCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGTCCCT CCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCCTTATCCATCCTGAG CCCCTCCTCCATCCTGAGCCCCCTCCCCCATCCTGGACCCCCTCCCCTTT CTTGAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0032 a0006c0010t0032	a0006c0010t0032g0006 a0006c0010t0032g0006	1	270	0.0037	356	c.31 others(365): Show c.311_*312insCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCC CCTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCT TGAGCCCCTTATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCC CATCCTGGACCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCC CCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCT TGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCCTTATC CATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCATCCTGGACCCC CTCCCCTTTCTTGAGCCCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TPSD1_chr16_1251069_1264008	1258684	C C	CCCCCCTC others(349): Show CCCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCACTGCTCCA TCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGAGCCCCT CATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCATCCTGGG CCCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTT TCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGTCCCT CCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTCCACCCTCAG CCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCTTCCCCTTT CTTGAGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0001 a0001c0001t0048g0001	1	270	0.0037	356	c.31 others(365): Show c.311_*312insCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGC CACTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTC TTGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCC CCATCCTGGGCCCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCC CCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTC TTGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCT CCACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCC CTTCCCCTTTCTTGAGTCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TPSD1_chr16_1251069_1264008	1258684	C C	CCCCCTCC others(349): Show CCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCACTGCTCCAT CCTGAGTCCCCTCCCCCACACTGAGCCCCCCTCCCCTTTCTTGAGCCCCT CATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCATCCTGGG CCCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTT TCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGTCCCT CCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTCCACCCTCAG CCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCTTCCCCTTT CTTGAGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0001 a0001c0001t0035g0001	1	270	0.0037	356	c.31 others(365): Show c.311_*312insCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCC ACTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCCTCCCCTTTC TTGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCC CCATCCTGGGCCCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCC CCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTC TTGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCT CCACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCC CTTCCCCTTTCTTGAGTCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TRPC4AP_chr20_34997404_35097807	35097556	T T	TATATACA others(349): Show TATATACATATACACACATGTGTGTATATATACATATACACACATGTGTG TGTATATACATATACACACATGCGTATATACATATACACGCGTGCGTATA TACATATACACGCGTGCGTATATACATATACACGCGTGCGTATATACATA TACACGCGTGCGTATATACATATACACGCGTGCGTATATACATATACACG CGTGCGTATATACATATACACGCGTGCGTATATATACATATACACGCGTG CGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTGCG TATATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTA TATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	334	0.0030	356	c.-47 others(367): Show c.-4776_-4775insGTATATATACGCACGCGTGTATATGTATATATAC GCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGC ACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCAC GCGTGTATATGTATATACGCACGCGTGTATATGTATATACGCACGCGTGT ATATGTATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGT ATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTATATAC GCATGTGTGTATATGTATATACACACACATGTGTGTATATGTATATATAC ACACATGTGTGTATATGTATAT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4750		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097652	C C	CATATACA others(349): Show CATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATACATA TACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATA CACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATACA CGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACG CGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCG TGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTG CGTATATATACATATACACGCGTGCGTATACACATATACACGCGTGCGTA TACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0232	1	334	0.0030	356	c.-48 others(367): Show c.-4872_-4871insATGTGTATACGCACGCGTGTATATGTGTATACGC ACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCAC GCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGC GTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGT GTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTAT ATGTATATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGT ATATATACGCACGCGTGTATAT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4846		chr20	TogoVar
TTN_chr2_178520989_178812423	178687394	T T	TAAGAAAC others(349): Show TAAGAAACTATAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCGGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0185 a0185	a0185c0203 a0185c0203	a0185c0203t0001 a0185c0203t0001	a0185c0203t0001g0240 a0185c0203t0001g0240	1	242	0.0041	356	c.323 others(375): Show c.32311+716_32311+717insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACCGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCTCTATAGTTTCTT	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	127/362			chr2	TogoVar
TTN_chr2_178739405_178812423	178757187	A A	ACAGTAAG others(349): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAATACTGTACTTACTTTAAGTGCAG TAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACT TTAAGTG	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0007 a0007	a0007c0079 a0007c0079	a0007c0079t0003 a0007c0079t0003	a0007c0079t0003g0054 a0007c0079t0003g0054	1	370	0.0027	356	c.103 others(377): Show c.10303+1796_10303+1797insCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAA GTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTAC TGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAG TATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAA GTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTAC TGTACTTAAAGTAAGTACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45			chr2	TogoVar
TVP23A_chr16_10761675_10823794	10764693	A A	ATTGGAGC others(349): Show ATTGGAGCATCTCAGTCTGCTGGAGTATGTCAGTCTGTTGGAGCATCTCA GTCTGCTGGAGTATGTCAGTCTATTGGAGCATCTCAGTCTGCTGGAGTAT GTCAGTCTATTGGAGCATCTCAGTCTGCTGGAGTATGTCAGTCTATTGGA GCATCTCAGTCTGCTGGAGTAGGTCTATTGGAGCATCTCAGTCTGCTGGA GTATGTCAGTCTGTTGGAGCATCTCAGTCTGCTGGAGTATGTCAGTCTGT TGGAGCATCTCAGTCTGCTGGAGTATGTCAGTCTGTTGGAGCATCTCAGT CTGCTGGAGTATGTCAGTCTGTTGGAGCATCTCAGTCTGCTGGAGTATGT CAGTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG02965.hp1 others(6): Show HG02257.hp1 HG02486.hp2 HG02965.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0024 a0001c0001t0028 a0001c0001t0009 a0001c0001t0024 a0001c0001t0028	a0001c0001t0009g0023 a0001c0001t0009g0026 a0001c0001t0009g0044 others(6): Show a0001c0001t0009g0023 a0001c0001t0009g0026 a0001c0001t0009g0044 a0001c0001t0009g0045 a0001c0001t0009g0086 a0001c0001t0009g0096 a0001c0001t0024g0398 a0001c0001t0024g0400 a0001c0001t0028g0008	9	410	0.0220	356	c.44 others(367): Show c.4408_*4409insCAGACTGACATACTCCAGCAGACTGAGATGCTCC AACAGACTGACATACTCCAGCAGACTGAGATGCTCCAACAGACTGACATA CTCCAGCAGACTGAGATGCTCCAACAGACTGACATACTCCAGCAGACTGA GATGCTCCAACAGACTGACATACTCCAGCAGACTGAGATGCTCCAATAGA CCTACTCCAGCAGACTGAGATGCTCCAATAGACTGACATACTCCAGCAGA CTGAGATGCTCCAATAGACTGACATACTCCAGCAGACTGAGATGCTCCAA TAGACTGACATACTCCAGCAGACTGAGATGCTCCAACAGACTGACATACT CCAGCAGACTGAGATGCTCCAA	TVP23A	ENSG00000166676.17	transcript	ENST00000299866.13	protein_coding		1981		chr16	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(349): Show TATATACACACGTGTGTATATACGTATATACACAAGTGTGTATATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0190 a0001c0001t0010g0190	1	320	0.0031	356	c.-38 others(367): Show c.-3848_-3847insATATACACACGTGTGTATATACGTATATACACAA GTGTGTATATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UCN3_chr10_5359966_5379692	5370209	G G	GTATGTGT others(349): Show GTATGTGTGTGTATATATGTGTGTATATATGTGTGTGTATATGTGTGTGT ATATGCGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGTGTGTATAT GCGTGTGTATATGTGTGTGTATATGTGTGTGTGTATATGCGTGTGTATGT GTGTGTATATGCGTGTGTATATGTGTGTGTGTATATGTGTGTGTATATGT GTGTGTATGTGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGCGTGT GTATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATGTGTGTGTAT ATGTGTGTATATGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGC GTGTGTA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0110 a0001c0002t0007g0110	1	468	0.0021	356	c.-6- others(371): Show c.-6-3493_-6-3492insATATGTGTGTATATATGTGTGTGTATATGT GTGTGTATATGCGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGTGT GTATATGCGTGTGTATATGTGTGTGTATATGTGTGTGTGTATATGCGTGT GTATGTGTGTGTATATGCGTGTGTATATGTGTGTGTGTATATGTGTGTGT ATATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGCGTGTGTATAT GCGTGTGTATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATGTGT GTGTATATGTGTGTATATGTGTGTGTATATGCGTGTGTATGCGTGTGTGT ATATGCGTGTGTATATGTGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
VCX2_chrX_8164944_8176267	8169240	C C	CCCTCCCT others(349): Show CCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCTCCTGTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCT CCCTCCCTCCCCACACACCTCCTGTTCCTCCCTCCCTCCCTCCCCACACA CCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCCCCCTC CCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACAC CACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCTCACACC ACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0043 a0005c0006t0002g0043	1	115	0.0087	356	c.79 others(365): Show c.791_*792insAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAACAG GAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAACAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		703		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(349): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	408	0.0025	356	c.53+ others(371): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar

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