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
SERPINF2_chr17_1737871_1760265	1739135	A A	AGCCTGAT others(441): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGA GTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAAGGAGCCTGATTCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGG TGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGA AGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 NA18522.hp1 NA18956.hp1 HG03041.hp2 NA18522.hp1 NA18956.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0042 a0001c0001t0004g0042 a0002c0002t0001g0061 a0001c0001t0001g0042 a0001c0001t0004g0042 a0002c0002t0001g0061	3	445	0.0067	448	c.-37 others(459): Show c.-3778_-3777insGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGT GGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGA TGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATTCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3735		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739225	G G	GGCCTGAT others(441): Show GGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGA GTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGG TGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA GGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02922.hp2 HG03471.hp2 HG02723.hp1 HG02922.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0021 a0001c0001t0001g0147 a0001c0001t0005g0045 a0001c0001t0001g0021 a0001c0001t0001g0147 a0001c0001t0005g0045	3	445	0.0067	448	c.-36 others(459): Show c.-3688_-3687insGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGT GGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGA TGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGA	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3645		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739943	G G	GGCCTGAT others(441): Show GGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGA TGCAGGGAGTGAGGCGCAGGACACTGAGGGTGGGAAGGAGCCTGATTCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGA GCCGTACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGA GGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	445	0.0023	448	c.-29 others(459): Show c.-2970_-2969insGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGG CGGGAAGCGGCCTGATGCAGGGAGTGAGGCGCAGGACACTGAGGGTGGGA AGGAGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGA TGCAGGGAGTGAGGAGCCGTACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGCGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGG ACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGT GAGGGTGGGAAGGA	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2927		chr17	TogoVar
SHC2_chr19_411589_466033	431660	T T	TAGATGGC others(441): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGC CGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTA GAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGATCGTGAGTGAGA GTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGATAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGA TCGTGAGTGAGAGTTAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGT GAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCAGGCAGATAGATGGCAC TTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATG GCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0018 a0001c0006t0002g0018	1	212	0.0047	448	c.111 others(465): Show c.1111-914_1111-913insGCCCGGCCTCCTCTATCTCTCACTCACG ATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTAACTCTCACT CACGATCTCACTCACGATGAAGTGCCATCTATCTGCCTGGCCTCCTCTAT CTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCCGCC TCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCT GCCCCGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCC ATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACGATGAAGCGCC ATCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGAT GAAGCGCCATCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCA CTCACGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SLAIN1_chr13_77692687_77769229	77704211	T T	TATGTTTT others(441): Show TATGTTTTATATGTATATATACATAGAAAATATATATACATGTTTTATAT GTATATATATACATAGAAAATATATATACATGTTTTATATGTATATATAT ACATAGAAAATATATATACATATGTTTTATATGTATATATATACATAGAA AATATATATACATATGTTTTATATGTATATATATACATAGAAAATATATA TACATATGTTTTATATGTATATATATACATAGAAAATATATGTACATATG TTTTATATGTATATATATACATAGAAAATATATGTACATATGTTTTATAT GTATATATATACATAGAAAATATATGTACATATGTTTTATATGTATATAT ACATAGAAAATATATGTACATATGTTTTATATGTATATATACATAGAAAA TATATGTACATATGTTTTATATGTATATATACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02683.hp1 NA20805.hp1 HG01255.hp2 HG02683.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0235 a0001c0001t0002g0263 a0001c0001t0002g0177 a0001c0001t0002g0235 a0001c0001t0002g0263	3	300	0.0100	448	c.626 others(465): Show c.626+5706_626+5707insATACATGTTTTATATGTATATATATACA TAGAAAATATATATACATGTTTTATATGTATATATATACATAGAAAATAT ATATACATATGTTTTATATGTATATATATACATAGAAAATATATATACAT ATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTA TATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTATA TATATACATAGAAAATATATGTACATATGTTTTATATGTATATATATACA TAGAAAATATATGTACATATGTTTTATATGTATATATACATAGAAAATAT ATGTACATATGTTTTATATGTATATATACATAGAAAATATATGTACATAT GTTTTATATGTATATATACATAGAAAATATATATACATGTTTTATATGTA TATATACATAGAAAATATAT	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC27A5_chr19_58493333_58516992	58502738	G G	GCCAGTTA others(441): Show GCCAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGGACAGTTAGAGTAG TGAGTGAGTAGATGGATGGCTGGACAGTTAGAGTAGTGAGTGAGTAGATG GATGGGTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGAACAGA GTAGTGAGTGAGAAGATGGATGGGTGAACAGTTAGAGTAGTGAGTGAGTG GATGGATGGGTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGGA CAGAGTAGTGAGTGAGAAGATGGATGTGTGGACAGAGTAGTGAGTGAGAA GATGGATGGGTGAACAGTTAGAGTAGTGAGTGAGTGGATGGATGGGTGGA CAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGGACAGAGTAGTGAGTG AGAAGATGGATGTGTGGACAGAGTAGTGAGTGAGAAGATGGATGGGTGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	424	0.0024	448	c.105 others(467): Show c.1058-1329_1058-1328insTCACCCATCCATCTTCTCACTCACTA CTCTGTCCACACATCCATCTTCTCACTCACTACTCTGTCCACCCATCCAT CTACTCACTCACTACTCTAACTGTCCACCCATCCATCCACTCACTCACTA CTCTAACTGTTCACCCATCCATCTTCTCACTCACTACTCTGTCCACACAT CCATCTTCTCACTCACTACTCTGTCCACCCATCCATCTACTCACTCACTA CTCTAACTGTCCACCCATCCATCCACTCACTCACTACTCTAACTGTTCAC CCATCCATCTTCTCACTCACTACTCTGTTCACCCATCCATCTACTCACTC ACTACTCTAACTGTCCACCCATCCATCTACTCACTCACTACTCTAACTGT CCAGCCATCCATCTACTCACTCACTACTCTAACTGTCCACCCATCCATCT ACTCACTCACTACTCTAACTGG	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AATATAAA others(441): Show AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATACATAAATATAAATATATTATATATATTATACATAAATATAAATAT ATTATATATATTATATATAATATAAATATATTATATATATTATATATAAA TATAAATATATTATATATATTATATATAAATATAAATATATTATATATTA TATAAATATAAATATATTATATATTATATAAATATAAATATATTATATAT TATATATAAATATAAATATATTATATATTATATATAATATAAATATATTA TATATATTATATATAATATAAATATATTAATATATTATATATAATATAAA TATATTATATATAATATAAATATATTATATATATTATATATAATATAAAT ATATTATATATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp1 HG02280.hp1 HG01074.hp2 HG01109.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0010 a0002c0002t0002 a0002c0002t0010	a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0010g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0010g0244	3	346	0.0087	448	c.-70 others(465): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATTTATATTATATATAATATATTAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA ATATATTTATATTTATATATAATATATAATATATTTATATTTATATAATA TATAATATATTTATATTTATATAATATATAATATATTTATATTTATATAT AATATATATAATATATTTATATTTATATATAATATATATAATATATTTAT ATTATATATAATATATATAATATATTTATATTTATGTATAATATATATAA TATATTTATATTTATGTATAATATATATAATATATTTATATTATATATAA TATATATAATATATTTATAT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(441): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAAATATAAATA TATTATATATATTATATATAAATATAAATATATTATATATTATATAAATA TAAATATATTATATATTATATAAATATAAATATATTATATATTATATATA AATATAAATATATTATATATTATATATAATATAAATATATTATATATATT ATATATAATATAAATATATTAATATATTATATATAATATAAATATATTAT ATATAATATAAATATATTATATATATTATATATAATATAAATATATTATA TATATTATATATAATATAAATATATTATATATATTATATATAATATAAAT ATATTATATATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0307 a0002c0004t0001g0307	1	346	0.0029	448	c.-70 others(465): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATTTATATTATATATAATATAT TAATATATTTATATTATATATAATATATATAATATATTTATATTATATAT AATATATAATATATTTATATTTATATATAATATATAATATATTTATATTT ATATAATATATAATATATTTATATTTATATAATATATAATATATTTATAT TTATATATAATATATATAATATATTTATATTTATATATAATATATATAAT ATATTTATATTATATATAATATATATAATATATTTATATTTATGTATAAT ATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(441): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAAATATAAATA TATTATATATATTATATATAAATATAAATATATTATATATTATATAAATA TAAATATATTATATATTATATAAATATAAATATATTATATATTATATATA AATATAAATATATTATATATTATATATAATATAAATATATTATATATATT ATATATAATATAAATATATTATATATATTATATATAATATAAATATATTA ATATATTATATATAATATAAATATATTATATATAATATAAATATATTATA TATATTATATATAATATAAATATATTATATATATTATATATAATATAAAT ATATTATATATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18973.hp1 HG03927.hp2 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0315 a0002c0002t0001g0316	2	346	0.0058	448	c.-70 others(465): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TTTATATTATATATAATATATTAATATATTTATATTATATATAATATATA TAATATATTTATATTATATATAATATATATAATATATTTATATTATATAT AATATATAATATATTTATATTTATATATAATATATAATATATTTATATTT ATATAATATATAATATATTTATATTTATATAATATATAATATATTTATAT TTATATATAATATATATAATATATTTATATTTATATATAATATATATAAT ATATTTATATTATATATAATATATATAATATATTTATATTTATGTATAAT ATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(441): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAATATAAATAT ATTATATATATTATATATAAATATAAATATATTATATATATTATATATAA ATATAAATATATTATATATTATATAAATATAAATATATTATATATTATAT AAATATAAATATATTATATATTATATATAAATATAAATATATTATATATT ATATATAATATAAATATATTATATATATTATATATAATATAAATATATTA TATATATTATATATAATATAAATATATTAATATATTATATATAATATAAA TATATTATATATAATATAAATATATTATATATATTATATATAATATAAAT ATATTATATATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18941.hp2 NA19066.hp1 HG02155.hp1 NA18941.hp2 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0277 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0277 a0002c0002t0001g0318 a0002c0002t0001g0319	3	346	0.0087	448	c.-70 others(465): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATTTATATTATATATAATATATTAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA TAATATATTTATATTATATATAATATATAATATATTTATATTTATATATA ATATATAATATATTTATATTTATATAATATATAATATATTTATATTTATA TAATATATAATATATTTATATTTATATATAATATATATAATATATTTATA TTTATATATAATATATATAATATATTTATATTATATATAATATATATAAT ATATTTATATTATATATAATATATATAATATATTTATATTTATGTATAAT ATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SNX9_chr6_157818246_157950077	157827089	C C	CATATATT others(441): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACA TATAGTTTATATAATATATAAACATATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	302	0.0033	448	c.12+ others(463): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATAGTTTATATAATATATAAACATATAGTT TATATAATATATAAACATATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATAAAATATATTA TAGTTTATATAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827089	C C	CATATATT others(441): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATATTATAT AAACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAA ACATATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	302	0.0033	448	c.12+ others(463): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATATTATATAAACATA TAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACAATATATTA TAGTTTATATAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827089	C C	CATATATT others(441): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATATTATAT AAACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAA ACATATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	302	0.0033	448	c.12+ others(463): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATATTATATAAACATA TAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACAATATATTA TAGTTTATATAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827176	C C	CATATATT others(441): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTT ATATAATATATAAACATATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATAAAATATATTAT AGTTTATATAATATATACATATATATTATAGTTTATATAATATATACAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	302	0.0033	448	c.12+ others(463): Show c.12+3851_12+3852insGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATAAAATATATTATAG TTTATATAATATATACATATATATTATAGTTTATATAATATATACATATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827176	C C	CATATATT others(441): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACA TATAGTTTATATAATATATAAACATATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATACAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	302	0.0033	448	c.12+ others(463): Show c.12+3909_12+3910insGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATAAAATATATTATAGTTTATATAATATATACATATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOX5_chr12_23524504_23954670	23837279	T T	TTATATTT others(441): Show TTATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTTAT ATTTATATAATATATAAGATATATTTATATTTATATAATATATAAGATAT ATTTATATTTATATAATATATAAGATATATTTATATTTATATAATATATA AGATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAA TATATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTT ATATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTT ATATTTATATAATATATAAGATATATTTATATTTATATAATATATAAGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0088 a0001c0003t0088	a0001c0003t0088g0032 a0001c0003t0088g0032	1	212	0.0047	448	c.481 others(465): Show c.481+8703_481+8704insTCTTATATATTATATAAATATAAATATA TCTTATATATTATATAAATATAAATATATCTTATATATTATATAAATATA AATATATCTTATATATTATATAAATATAAATATATCTTATATATTATATA AATATAAATATATCTTATATATTATATAAATATAAATATATCTTATATAT TATATAAATATAAATATATCTTATATATTATATAAATATAAATATATCTT ATATATTATATAAATATAAATATATCTTATATATTATATAAATATAAATA TATCTTATATATTATATAAATATAAATATATCTTATATATTATATAAATA TAAATATATCTTATATATTATATAAATATAAATATATCTTATATATTATA TAAATATAAATATATCTTATATATTATATAAATATAAATATATCTTATAT ATTATATAAATATAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(441): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAA GGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGG GAAGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGGGGGAGGG GGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	251	0.0040	448	c.34 others(457): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCC TCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCC CCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCC CCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCT CCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTT CCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(441): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGG AGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGA AGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGG GGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAG ATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGG GAGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGG GGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0162 a0001c0001t0004g0162	1	251	0.0040	448	c.34 others(457): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCC TCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCC CCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCT TCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCT CCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCGTTCCCGCTTC CCCCTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTC CCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTT CCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPEF2_chr5_35612863_35819611	35713997	A A	ATACATTA others(441): Show ATACATTATATATATTTATATATAGTATATTTTATATAAGTAGTATATAT TTTATATAGTATTATATATTTTATATACAGTATATTATATATGTATTATT ATATATTAGATATATTTTATATAGTATATATATATTTATATATAGTTATA ATTATATATATACTATATAGTATTATATAATAGTATTATATAGTATATAT TTATATATTATATATATAGTATATTATATATATATTTATATATAGTAATA TATATATATTATATAGTTATTATATTATATATATTATTATATAGTTATAT ATATTATATATAGTATATATTTATAGTATAGTATATTATTATATAGTATA TATATATATAGTATATATTATATATATAGTTTTTATATATATTATATGTA TATATATAGTATATTATTATATTAGTATATATTATATATAGATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0225 a0003c0004t0001g0225	1	268	0.0037	448	c.291 others(467): Show c.2914+1113_2914+1114insCATTATATATATTTATATATAGTATA TTTTATATAAGTAGTATATATTTTATATAGTATTATATATTTTATATACA GTATATTATATATGTATTATTATATATTAGATATATTTTATATAGTATAT ATATATTTATATATAGTTATAATTATATATATACTATATAGTATTATATA ATAGTATTATATAGTATATATTTATATATTATATATATAGTATATTATAT ATATATTTATATATAGTAATATATATATATTATATAGTTATTATATTATA TATATTATTATATAGTTATATATATTATATATAGTATATATTTATAGTAT AGTATATTATTATATAGTATATATATATATAGTATATATTATATATATAG TTTTTATATATATTATATGTATATATATAGTATATTATTATATTAGTATA TATTATATATAGATATATATTA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
STAB2_chr12_103582273_103771719	103768598	G G	GGGGAGGG others(441): Show GGGGAGGGGGGAGGGAGAGGGACAGGACAGGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGAGAAGGGGGGGAGAGGGAGGGAGAGG GGGGGAGAGAGAGGGAGGGGGGTGGGAGGGGAGGGAGGGAGAGGGAGGGA GAGGGAGAGGACAGGGAGAGAGGAGGGAGAGGGAGAGAGAGGGAGGGAGG GAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGAGGGAGGGAGAGAGAT GGGGAGGGGGAGGGAGAGGATGGGGAGGGGAGAGGATGGGGGAGGAGAGG AGGGGACAGGGGGAGAGGGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGG GAGAGAGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0083 a0001c0003t0001g0083	1	256	0.0039	448	c.22 others(459): Show c.2262_*2263insGGGAGGGGGGAGGGAGAGGGACAGGACAGGGGAG AGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGAC AGGGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGAGAAGGGGGGG AGAGGGAGGGAGAGGGGGGGAGAGAGAGGGAGGGGGGTGGGAGGGGAGGG AGGGAGAGGGAGGGAGAGGGAGAGGACAGGGAGAGAGGAGGGAGAGGGAG AGAGAGGGAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGA GGGAGGGAGAGAGATGGGGAGGGGGAGGGAGAGGATGGGGAGGGGAGAGG ATGGGGGAGGAGAGGAGGGGACAGGGGGAGAGGGAAGGAGAGGGAGAGGG GGAGGGAGAGGGGGGGAGAGAGGAGAGGGAGAGAGAGGGAAAGGGAGTGA GAGAGAGAGGGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1880		chr12	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(441): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGGGGGAGGGAGGGGGGAGAGAGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0033 a0001c0001t0010g0033	1	276	0.0036	448	c.-18 others(467): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCC CCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTC CCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCC CCTCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCC CTCCCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCCTCT CCCCCCTCCCTCCCCCTCTCTCCCCCCCTCCCCCTCTCTCCCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTCTCT CTCCCTCCCCACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTC TCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(441): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGGGAGAG AGGGGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGG AGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGA GGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGGAGAGAGAGGGGGAGGG AGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGG GGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGGAGAGAGAGGGGGG AGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0233 a0001c0002t0002g0233	1	276	0.0036	448	c.-18 others(467): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCCTCTCTCTCCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCT CTCTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCCTCCC TCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC TCCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CCTCCCTCCCCCTCTCCCCCCCTCTCTCCCCCCCCTCCCTCCCCCTCTCT CCCCCCCTCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCC CTCCCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCC CCTCCCCCTCTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TECTA_chr11_121096243_121196490	121185991	G G	GAATGAGT others(441): Show GAATGAGTAGGGAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGA TGTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAAT GAATGAGTAGGGAAAGCAGATGTTCAATGCTTAAGATGAGTAGGTGAAAG CAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCT TAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGG GAAAGCAGATGTTGAATGCTTAATGACATTGAGTAGGGAAAGCAGATGTT GAATGCTTAATGAATGAATAGGGAAAGCAGATGTTTCAATGCTTAATGAA TGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCA GATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0080 a0003c0004t0002g0080	1	348	0.0029	448	c.600 others(467): Show c.6000-1828_6000-1827insGCAGATGTTCAATGCTTAATGAGTAG GGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTC AATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAAGATGAG TAGGTGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGAT GTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATG AATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGACATTGAGTAGGGAA AGCAGATGTTGAATGCTTAATGAATGAATAGGGAAAGCAGATGTTTCAAT GCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGT AGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGT TCAATGCTTAATGAGTAGGGAA	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
THEG_chr19_356747_381026	361747	C C	CGACGGTC others(441): Show CGACGGTCCCGTGGCCCCTCAGCAGGAGCATCAGCTGGTTTGACTGTGGC TGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCT GCTTTGACTGTGGCTGTCGTTCCGACTCTGACGGTCCCGTGGCCCCTCAG CAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCTGACTCCGACGGTC CCGTGGCCCCTCAGCAGGAGCGTCGGCTGCTTTGACTGTGGCTGTCGTTC CGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCATCAGCTGGTTTGAC TGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCG TCGGCTGGTTTGACTGTGGCTATCGTTCCGACTCTGACGGTCCCGTGGCC CCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCATTCCGACTCT	splice_region_variant splice_region_variant	LOW	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0119 a0001c0001t0039g0119	1	370	0.0027	448	c.45 others(457): Show c.452_*453insAGAGTCGGAATGACAGCCACAGTCAAACCAGCCGAC GCTCCTGCTGAGGGGCCACGGGACCGTCAGAGTCGGAACGATAGCCACAG TCAAACCAGCCGACGCTCCTGCTGAGGGGCCACGGGACCGTCGGAGTCGG AACGACAGCCACAGTCAAACCAGCTGATGCTCCTGCTGAGGGGCCACGGG ACCGTCGGAGTCGGAACGACAGCCACAGTCAAAGCAGCCGACGCTCCTGC TGAGGGGCCACGGGACCGTCGGAGTCAGAACGACAGCCACAGTCAAACCA GCCGACGCTCCTGCTGAGGGGCCACGGGACCGTCAGAGTCGGAACGACAG CCACAGTCAAAGCAGCCGACGCTCCTGCTGAGGGGCCACGGGACCGTCGG AGTCGGAACGACAGCCACAGTCAAACCAGCTGATGCTCCTGCTGAGGGGC CACGGGACCGTC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding	8/8			chr19	TogoVar
THEG_chr19_356747_381026	361784	C C	CTTTGACT others(441): Show CTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGC AGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCC CGTGGCCCCTCAGCAGGAGCGTCGGCTGCTTTGACTGTGGCTGTCGTTCC GACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACT GTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCCCTCAGGAGGAGCGT CGGCTGCTTTGACTGTGGCTGTCGTTACGACTCCGACGGTCCCGTGGGCC CTCAGCAGGAGCGTCGGCTGCTTTGACTGTGGCTGTCGTTCCGACTCCGA CGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGT CGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp1 HG03041.hp1 HG02809.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0073 a0001c0001t0018g0078 a0001c0001t0018g0073 a0001c0001t0018g0078	2	370	0.0054	448	c.41 others(457): Show c.415_*416insCCAGCCGACGCTCCTGCTGAGGGGCCACGGGACCGT CGGAGTCGGAACGACAGCCACAGTCAAACCAGCCGACGCTCCTGCTGAGG GGCCACGGGACCGTCGGAGTCGGAACGACAGCCACAGTCAAAGCAGCCGA CGCTCCTGCTGAGGGCCCACGGGACCGTCGGAGTCGTAACGACAGCCACA GTCAAAGCAGCCGACGCTCCTCCTGAGGGCCCACGGGACCGTCGGAGTCG GAACGACAGCCACAGTCAAACCAGCCGACGCTCCTGCTGAGGGGCCACGG GACCGTCGGAGTCGGAACGACAGCCACAGTCAAAGCAGCCGACGCTCCTG CTGAGGGGCCACGGGACCGTCGGAGTCGGAACGACAGCCACAGTCAAACC AGCCGACGCTCCTGCTGAGGGGCCACGGGACCGTCGGAGTCGGAACGACA GCCACAGTCAAA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding	8/8	415		chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747465	C C	CGGGAGGC others(441): Show CGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAG GCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAG GCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0150 a0001c0001t0080g0150	1	314	0.0032	448	c.189 others(463): Show c.189-854_189-853insACTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGG CGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGG CGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121748166	C C	CTGGGGTA others(441): Show CTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGG TAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGG GAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGG GAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGG GAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGG GGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAG GTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0083 a0001c0001t0102g0083	1	314	0.0032	448	c.189 others(463): Show c.189-160_189-159insTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TOLLIP_chr11_1269371_1314632	1287619	G G	GCCTCCCC others(441): Show GCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCG CACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCC CCGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCAGCCTCCCCGCCGCA CCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCCCACCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0256 a0001c0002t0002g0256	1	348	0.0029	448	c.519 others(465): Show c.519+1004_519+1005insGTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GGGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGA GGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGG CGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCG GGGAGGGTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287619	G G	GCCTCCCC others(441): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCC CCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCA GCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0206 a0001c0002t0007g0206	1	348	0.0029	448	c.519 others(465): Show c.519+1004_519+1005insGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGG CGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287836	C C	CGCCGCAG others(441): Show CGCCGCAGCCTCCCCGCCGCACCCTCTCCGCCGCAGCCTCCCCGCCGCAC CCTCTCCGCCGCAGCCTCCCCGCCGCACCCTCTCCGCCGCAGCCTCCCCG CCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCC TCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCC GCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTC TCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGC ACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCC CGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAG CCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0192 a0001c0002t0003g0192	1	348	0.0029	448	c.519 others(463): Show c.519+787_519+788insAGAGAGGGTGCGGCGGGGAGGCTGCGGCAG AGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTG CGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGG AGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCG GCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAG GGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGC AGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGC TGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGAGAGGGTGCGGCGG GGAGGCTGCGGCGGAGAGGGTGCGGCGGGGAGGCTGCGGCGGAGAGGGTG CGGCGGGGAGGCTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TPK1_chr7_144446941_144841053	144780648	T T	TAGTATAT others(441): Show TAGTATATAATATAGTATATTATATTATATAGTATATAATATAGTATATT ATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATAT AGTATATTATATTATATAGTATATAATATAGTATATTATATTATATAGTA TATTATATTATATTATATAGTATATAATATAGTATATTATATTATATAGT ATATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATAT TATATAGTATATAATATAGTATAGTATATTATATAGTATATAATATAGTA TATTATATTATATAGTATATAATATAGTATAGTATATTATATAGTATATA ATATAGTATAGTATATTATATAGTATATAATATAGTATAGTATATTATAT AGTATATAATATAGTATAGTATATAGTATATTATATACTATACTATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	118	0.0085	448	c.44- others(465): Show c.44-14698_44-14697insTATATAGTATAGTATATAATATACTATA TACTATACTATATTATATACTATATAATATACTATACTATATTATATACT ATATAATATACTATACTATATTATATACTATATAATATACTATACTATAT TATATACTATATAATATAATATACTATATTATATACTATATAATATACTA TACTATATTATATACTATATAATATAATATACTATATTATATACTATATA ATATAATATACTATATTATATACTATATAATATAATATACTATATTATAT ACTATATAATATAATATAATATACTATATAATATAATATACTATATTATA TACTATATAATATAATATACTATATTATATACTATATAATATAATATACT ATATTATATACTATATAATATAATATACTATATTATATACTATATAATAT AATATACTATATTATATACT	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TRAF6_chr11_36478769_36515272	36507507	G G	GTATTATA others(441): Show GTATTATACATACGTAAATGTATATATGTATATATACATTATACATACGT AAATGTATATATGTATATATACATTATACATACGTAAATGTATATATGTA TATATACATTATACATACGTAAATGTATAATGTATATATACATTATACAT ACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATG TATATATACATTATACATACGTAAATGTATAATGTATATATACATTATAC ATACGTAAATGTATGTATATATACATTATACATACGTAAATGTATTATAC ATAAATGTATATATGTATATATACATGTATTATACATACATAAATGTATA TATGTATATATACATGTATTATACATACATAAATGTATATATGTATATAT ACATGTATGCACGTATATATACATGTATATATACATGTATATATGTATA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0306 a0001c0001t0003g0306	1	388	0.0026	448	c.-23 others(465): Show c.-23+2540_-23+2541insTATACATATATACATGTATATATACATG TATATATACGTGCATACATGTATATATACATATATACATTTATGTATGTA TAATACATGTATATATACATATATACATTTATGTATGTATAATACATGTA TATATACATATATACATTTATGTATAATACATTTACGTATGTATAATGTA TATATACATACATTTACGTATGTATAATGTATATATACATTATACATTTA CGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTAT ATATACATTATACATTTACGTATGTATAATGTATATATACATTATACATT TACGTATGTATAATGTATATATACATATATACATTTACGTATGTATAATG TATATATACATATATACATTTACGTATGTATAATGTATATATACATATAT ACATTTACGTATGTATAATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAPPC12_chr2_3374694_3484565	3437763	C C	CCCCATCA others(441): Show CCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCA CCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCAC CCCAGGATTAATACCCCATCACCCCAGGATTAATCCCCCAATCACCCCTG GATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTA ATCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCC CATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCAATCA CCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCT GGATTAATCCCCCCATCACCCCTGGATTAATACCCCAATCACCCCTGGAT TAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19043.hp1 HG02145.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0006 a0001c0003t0001 a0001c0004t0006	a0001c0003t0001g0330 a0001c0004t0006g0059 a0001c0003t0001g0330 a0001c0004t0006g0059	2	344	0.0058	448	c.141 others(467): Show c.1418-5996_1418-5995insACCCCATCACCCCTGGATTAATCCCC CCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCAT CACCCCAGGATTAATACCCCATCACCCCAGGATTAATCCCCCAATCACCC CTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGA TTAATCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCC CCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCAA TCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACC CCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCAATCACCCCTG GATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTA ATCCCATCACCCCTGGATTAAT	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPC4AP_chr20_34997404_35097807	35097652	C C	CATATACA others(441): Show CATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATACATA TACACGCGTGCGTATATACATATACACGCGTGCGTATATACATATACACG CGTGCGTATATACATATACACGCGTGCGTATATATACATATACACGCGTG CGTATATATACATATACACGCGTGCGTATATATACATATACACGCGTGCG TATATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTA TATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATA TATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATA TACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATA CATATACACGCGTGCGTATATATACATATACACGCGTGCGTATACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	334	0.0030	448	c.-48 others(459): Show c.-4872_-4871insATGTGTATACGCACGCGTGTATATGTATATATAC GCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGC ACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCAC GCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGC GTGTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGT GTATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTAT ATGTATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTAT ATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTATATATAC GCACGCGTGTATAT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4846		chr20	TogoVar
TSPAN9_chr12_3072379_3291559	3198822	C C	CACCAGCA others(441): Show CACCAGCACAGCTCACCACCAGCACAGGTCACACCAGCACAGGCCACCAC CAGCACAGGCCACCACCAGCACAGGTCACCAGCACAGGCCACCACCAGCA CAGGTCACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAG GCCACCACCAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAGGTC ACCACCAGCACAGGCCACCACCAGCACAGCTCACCACCAGCACAGCTCAC CACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCACCA CCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACC AGCACCATCAGCACAGGCCACCACCAGCACAGCTCACCACCAGCACAGGC CACCACCAGCACAGGTCACACCAGCACAGGTCACCACCAGCACAGGTCA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0210 a0001c0001t0004g0210	1	288	0.0035	448	c.-17 others(465): Show c.-17-2355_-17-2354insACCAGCACAGCTCACCACCAGCACAGGT CACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCAC CAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAGGCCACCACCAG CACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCA CAGGTCACACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCACAG CTCACCACCAGCACAGCTCACCACCAGCACAGGCCACCACCAGCACAGGC CACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCACAGGTCA CCACCAGCACAGGCCACCACCAGCACCATCAGCACAGGCCACCACCAGCA CAGCTCACCACCAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAG GTCACCACCAGCACAGGTCA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8			chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3198822	C C	CACCAGCA others(441): Show CACCAGCACAGCTCACCACCAGCACAGGTCACACCAGCACAGGCCACCAC CAGCACAGGCCACCACCAGCACAGGTCACCAGCACAGGCCACCACCAGCA CAGGTCACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAG GTCACCACCAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAGGTC ACCACCAGCACAGGCCACCACCAGCACAGCTCACCACCAGCACAGCTCAC CACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCACCA CCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACC AGCACCATCAGCACAGGCCACCACCAGCACAGCTCACCACCAGCACAGGC CACCACCAGCACAGGTCACACCAGCACAGGTCACCACCAGCACAGGTCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp1 HG00673.hp1 others(15): Show HG00099.hp2 HG00621.hp1 HG00673.hp1 HG01074.hp1 HG01358.hp1 HG01515.hp2 HG01517.hp2 HG02027.hp2 HG02809.hp1 HG04228.hp2 NA18949.hp1 NA18966.hp2 NA18971.hp2 NA19000.hp2 NA19004.hp2 NA19065.hp1 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0049 a0001c0002t0013 a0001c0002t0036 a0001c0002t0063 a0001c0003t0014	a0001c0001t0001g0160 a0001c0001t0002g0189 a0001c0001t0002g0265 others(15): Show a0001c0001t0001g0160 a0001c0001t0002g0189 a0001c0001t0002g0265 a0001c0001t0003g0045 a0001c0001t0003g0082 a0001c0001t0005g0044 a0001c0001t0007g0251 a0001c0001t0010g0025 a0001c0001t0012g0046 a0001c0001t0012g0084 a0001c0001t0020g0222 a0001c0001t0021g0168 a0001c0001t0049g0020 a0001c0002t0013g0231 a0001c0002t0036g0188 a0001c0002t0036g0190 a0001c0002t0063g0047 a0001c0003t0014g0137	18	288	0.0625	448	c.-17 others(465): Show c.-17-2355_-17-2354insACCAGCACAGCTCACCACCAGCACAGGT CACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCAC CAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAGGCCACCACCAG CACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCA CAGGTCACACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCACAG CTCACCACCAGCACAGCTCACCACCAGCACAGGCCACCACCAGCACAGGC CACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCACAGGTCA CCACCAGCACAGGCCACCACCAGCACCATCAGCACAGGCCACCACCAGCA CAGCTCACCACCAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAG GTCACCACCAGCACAGGTCA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8			chr12	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(441): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTC CTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	334	0.0030	448	c.657 others(463): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCC TCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTAC CCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCT CCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
ULK1_chr12_131889622_131928150	131917296	C C	CGGGGGTC others(441): Show CGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCT TGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGG GGTCGGGTTCGGCTTGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGA GGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTGGAGGCT GTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGT GGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTGGGG CTTGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	344	0.0029	448	c.218 others(465): Show c.2183-109_2183-108insCGGGTGGGGCTTGGAGGCTGTGGGACGG GGGTCGGGTTCGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGG AGGCTGTGGGATGGGGGTCGGGTTCGGCTTGGAGGCTGTGGGATGGGGGT CGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGC TGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGG TGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTG GGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGAT GGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTT GGAGGCTGTGGGATGGGGGT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNC5C_chr4_95157504_95553973	95196820	T T	TTTATATA others(441): Show TTTATATATTTATGTAATATATAATATATATTTATATATTATATTTATGT AATATATAATATATATTTATATATTATATTTATGTAATATATAATATATA TTTATATATTATATTTATGTAATATATAATATATATTTATATATTATATT TATGTAATATATAATATATATTTATATATTATATTTATGTAATATATAAT ATATATTTATATATTATATTTATGTAATATATAATATATATTTATATATT ATATTTATGTAATATATAATATATATTTATATATTATATTTATGTAATAT ATAATATATATTTATATATTATATTTATGTAATATATAATATATATTTAT ATATTATATTTATGTAATATATAATATATATTATATATTATATTTATGTA ATATATAATATATATTTATATATTATATTTATGTAATATATAATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03209.hp1 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0011 a0001c0019 a0001c0011 a0001c0019	a0001c0011t0012 a0001c0019t0012 a0001c0011t0012 a0001c0019t0012	a0001c0011t0012g0172 a0001c0019t0012g0171 a0001c0011t0012g0172 a0001c0019t0012g0171	2	204	0.0098	448	c.213 others(467): Show c.2136+5910_2136+5911insTATATATTATATATTACATAAATATA ATATATAAATATATATTATATATTACATAAATATAATATATAATATATAT TATATATTACATAAATATAATATATAAATATATATTATATATTACATAAA TATAATATATAAATATATATTATATATTACATAAATATAATATATAAATA TATATTATATATTACATAAATATAATATATAAATATATATTATATATTAC ATAAATATAATATATAAATATATATTATATATTACATAAATATAATATAT AAATATATATTATATATTACATAAATATAATATATAAATATATATTATAT ATTACATAAATATAATATATAAATATATATTATATATTACATAAATATAA TATATAAATATATATTATATATTACATAAATATAATATATAAATATATAT TATATATTACATAAATATATAA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(441): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0217	1	408	0.0025	448	c.53+ others(463): Show c.53+2028_53+2029insAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
WDR81_chr17_1719704_1743585	1739135	A A	AGCCTGAT others(441): Show AGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAG GAGCAGGTGTGAGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGG TGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGA AGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0002 a0003c0004t0003g0002	1	431	0.0023	448	c.14 others(459): Show c.1450_*1451insGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCT GATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATTCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAGGCG	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		551		chr17	TogoVar
WDR81_chr17_1719704_1743585	1739135	A A	AGCCTGAT others(441): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGA GTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAAGGAGCCTGATTCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGG TGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGA AGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG03041.hp1 NA18522.hp1 HG00597.hp1 HG03041.hp1 NA18522.hp1	a0001 a0003 a0025 a0001 a0003 a0025	a0001c0037 a0003c0005 a0025c0067 a0001c0037 a0003c0005 a0025c0067	a0001c0037t0003 a0003c0005t0003 a0025c0067t0003 a0001c0037t0003 a0003c0005t0003 a0025c0067t0003	a0001c0037t0003g0058 a0003c0005t0003g0002 a0025c0067t0003g0002 a0001c0037t0003g0058 a0003c0005t0003g0002 a0025c0067t0003g0002	3	431	0.0070	448	c.14 others(459): Show c.1450_*1451insGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGT GGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGA TGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATTCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAGGCG	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		551		chr17	TogoVar
WDR81_chr17_1719704_1743585	1739943	G G	GGCCTGAT others(441): Show GGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGA TGCAGGGAGTGAGGCGCAGGACACTGAGGGTGGGAAGGAGCCTGATTCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGA GCCGTACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGA GGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0027 a0027	a0027c0028 a0027c0028	a0027c0028t0003 a0027c0028t0003	a0027c0028t0003g0002 a0027c0028t0003g0002	1	431	0.0023	448	c.22 others(459): Show c.2258_*2259insGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGG CGGGAAGCGGCCTGATGCAGGGAGTGAGGCGCAGGACACTGAGGGTGGGA AGGAGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGA TGCAGGGAGTGAGGAGCCGTACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGCGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGG ACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGT GAGGGTGGGAAGGA	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1359		chr17	TogoVar
XG_chrX_2747040_2821500	2773758	C C	CGAAGGAA others(441): Show CGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGG AGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0027 a0001c0001t0025g0027	1	322	0.0031	448	c.104 others(463): Show c.104-943_104-942insAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGCG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAAGG AAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAG	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF469_chr16_88377959_88445753	88401971	G G	GATAGATA others(441): Show GATAGATATGTGGGTGGATGGGTAGATGGATGGGTGAGTGCATGGATGGA TGGATGGATGGATAGATGGTAGATGGATGGGTGGGTGGATGGATGGATAC ATGGGTGGATGAATAGGTAGATGGATGGATAGATGGGTGAGTGGATGGGT GGATGGATGGATGGATGGATACATGGGTGGATGGGTAGATGGATGGGTGA GTGCATGGATGGATGGATATATGGGTAGATGGATGGGTGGATGGATGGGT GATTGGATGGATGGATGGGTAGATGGATGGATGCATGGGTGGATGGATAG TGGATGGATGGATGGTAGATGCATGCATGGGTGGATGGATGGTGGCTGGA TGGATACAAGGGTGGATGAATAGGTAGATGGATAGATGGGTGAATGGGTG AGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00642.hp1 others(75): Show HG00323.hp2 HG00438.hp1 HG00642.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01346.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02132.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03490.hp1 HG03540.hp2 HG03654.hp2 HG04199.hp2 NA18612.hp2 NA18747.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18954.hp2 NA18960.hp2 NA18966.hp2 NA18970.hp2 NA18972.hp2 NA18977.hp2 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19005.hp1 NA19011.hp2 NA19043.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(36): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0015 a0016 a0017 a0020 a0021 a0022 a0025 a0026 a0027 a0030 a0031 a0040 a0043 a0064 a0078 a0083 a0085 a0087 a0088 a0090 a0094 a0096 a0097 a0099 a0100 a0104 a0105 a0108 a0135	a0001c0001 a0001c0002 a0001c0035 others(51): Show a0001c0001 a0001c0002 a0001c0035 a0001c0132 a0001c0175 a0002c0003 a0002c0007 a0002c0008 a0002c0157 a0003c0004 a0004c0145 a0004c0146 a0005c0006 a0005c0116 a0006c0021 a0006c0040 a0006c0041 a0007c0013 a0008c0042 a0009c0010 a0009c0075 a0011c0043 a0011c0148 a0015c0024 a0016c0016 a0017c0015 a0020c0018 a0021c0017 a0022c0023 a0025c0044 a0025c0187 a0026c0026 a0027c0027 a0030c0032 a0031c0152 a0031c0153 a0040c0049 a0043c0073 a0064c0059 a0078c0163 a0083c0161 a0085c0155 a0087c0159 a0088c0113 a0090c0150 a0094c0149 a0096c0137 a0097c0170 a0099c0171 a0100c0178 a0104c0096 a0105c0174 a0108c0106 a0135c0188	a0001c0001t0001 a0001c0001t0032 a0001c0002t0001 others(57): Show a0001c0001t0001 a0001c0001t0032 a0001c0002t0001 a0001c0002t0008 a0001c0002t0017 a0001c0035t0002 a0001c0132t0001 a0001c0175t0001 a0002c0003t0002 a0002c0007t0001 a0002c0007t0002 a0002c0008t0006 a0002c0008t0008 a0002c0157t0006 a0003c0004t0001 a0004c0145t0003 a0004c0146t0002 a0005c0006t0001 a0005c0116t0001 a0006c0021t0001 a0006c0040t0005 a0006c0041t0007 a0007c0013t0002 a0008c0042t0001 a0009c0010t0007 a0009c0075t0001 a0011c0043t0011 a0011c0148t0023 a0015c0024t0015 a0015c0024t0037 a0016c0016t0001 a0017c0015t0003 a0020c0018t0010 a0021c0017t0002 a0022c0023t0005 a0025c0044t0001 a0025c0187t0005 a0026c0026t0004 a0027c0027t0001 a0030c0032t0006 a0031c0152t0006 a0031c0153t0006 a0040c0049t0001 a0043c0073t0030 a0064c0059t0008 a0078c0163t0001 a0083c0161t0007 a0085c0155t0001 a0087c0159t0026 a0088c0113t0002 a0090c0150t0001 a0094c0149t0006 a0096c0137t0001 a0097c0170t0035 a0099c0171t0004 a0100c0178t0001 a0104c0096t0004 a0105c0174t0028 a0108c0106t0003 a0135c0188t0001	a0001c0001t0001g0064 a0001c0001t0032g0003 a0001c0002t0001g0050 others(74): Show a0001c0001t0001g0064 a0001c0001t0032g0003 a0001c0002t0001g0050 a0001c0002t0008g0079 a0001c0002t0017g0073 a0001c0035t0002g0231 a0001c0132t0001g0086 a0001c0175t0001g0003 a0002c0003t0002g0005 a0002c0003t0002g0028 a0002c0003t0002g0034 a0002c0003t0002g0049 a0002c0003t0002g0059 a0002c0003t0002g0060 a0002c0003t0002g0061 a0002c0003t0002g0108 a0002c0003t0002g0109 a0002c0003t0002g0240 a0002c0007t0001g0074 a0002c0007t0002g0076 a0002c0008t0006g0007 a0002c0008t0008g0081 a0002c0157t0006g0058 a0003c0004t0001g0005 a0003c0004t0001g0035 a0003c0004t0001g0067 a0004c0145t0003g0082 a0004c0146t0002g0083 a0005c0006t0001g0043 a0005c0116t0001g0040 a0006c0021t0001g0036 a0006c0040t0005g0048 a0006c0041t0007g0056 a0007c0013t0002g0042 a0008c0042t0001g0030 a0009c0010t0007g0210 a0009c0010t0007g0213 a0009c0075t0001g0033 a0011c0043t0011g0084 a0011c0043t0011g0089 a0011c0148t0023g0025 a0015c0024t0015g0208 a0015c0024t0037g0063 a0016c0016t0001g0041 a0017c0015t0003g0080 a0020c0018t0010g0198 a0021c0017t0002g0039 a0022c0023t0005g0066 a0022c0023t0005g0069 a0022c0023t0005g0070 a0025c0044t0001g0004 a0025c0044t0001g0032 a0025c0187t0005g0088 a0026c0026t0004g0188 a0027c0027t0001g0112 a0027c0027t0001g0214 a0030c0032t0006g0004 a0031c0152t0006g0045 a0031c0153t0006g0047 a0040c0049t0001g0199 a0043c0073t0030g0068 a0064c0059t0008g0031 a0078c0163t0001g0055 a0083c0161t0007g0167 a0085c0155t0001g0054 a0087c0159t0026g0075 a0088c0113t0002g0085 a0090c0150t0001g0051 a0094c0149t0006g0046 a0096c0137t0001g0072 a0097c0170t0035g0057 a0099c0171t0004g0044 a0100c0178t0001g0062 a0104c0096t0004g0196 a0105c0174t0028g0026 a0108c0106t0003g0038 a0135c0188t0001g0037	78	354	0.2203	448	c.-19 others(469): Show c.-192+18724_-192+18725insTGTGGGTGGATGGGTAGATGGATG GGTGAGTGCATGGATGGATGGATGGATGGATAGATGGTAGATGGATGGGT GGGTGGATGGATGGATACATGGGTGGATGAATAGGTAGATGGATGGATAG ATGGGTGAGTGGATGGGTGGATGGATGGATGGATGGATACATGGGTGGAT GGGTAGATGGATGGGTGAGTGCATGGATGGATGGATATATGGGTAGATGG ATGGGTGGATGGATGGGTGATTGGATGGATGGATGGGTAGATGGATGGAT GCATGGGTGGATGGATAGTGGATGGATGGATGGTAGATGCATGCATGGGT GGATGGATGGTGGCTGGATGGATACAAGGGTGGATGAATAGGTAGATGGA TAGATGGGTGAATGGGTGAGTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGCATAGATA	ZNF469	ENSG00000225614.4	transcript	ENST00000565624.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA7_chr19_1035107_1070572	1052625	A A	AGAGGAGG others(442): Show AGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCA GAAGGGGAGGAGTAGGAGGGGAGGAGGAGGGGGAGGGAGAGGAGGAGGGG GAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGAGGAGAAAG GGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAG AGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGAG GAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAG GAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTA GGAGGGAGAGGAGGAGAAAGAGGAGGGGAGGAGAAGGAGGAGGGGAGGAG AAGGAGGAGGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGAGTAAGGGG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0001 a0017c0017t0001	a0017c0017t0001g0027 a0017c0017t0001g0027	1	30	0.0333	449	c.322 others(466): Show c.3220+339_3220+340insGAGGAGGAGGGGGAGGGAGAGGAGGAGG GGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGAGGAGGAG GGGGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGTAGAGGA GGAGGAGGAGGGAGGAGAAAGGGAGGAGTAGGAGGGGAGCAGAAGGGGAG GAGTAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGGG GAGGAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGAGGAGAGGGAGAGAGA GGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGGAGGGGGA GGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGAAAGAGGAGGGGA GGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAGAAGAAGGGGAAGAA TAAGGGGGGAGGAGTAAGGGG	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	23/46			chr19	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAGA others(442): Show GAAAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGA AAGAAAGAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAG AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0042 a0003c0012t0001g0042	1	376	0.0027	449	c.-11 others(460): Show c.-1192_-1191insAAAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAGAA AGAAAGAAAGAAAGAAAGAAAGAAGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGA GAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGA GAGAGAGAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ADAMTS14_chr10_70667506_70767441	70688878	G G	GGAGAGGG others(442): Show GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGAGAGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAGGGAGAGGG AGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGGAGAGGGAGAGGGGAGAGGAGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0005 a0008c0011t0005	a0008c0011t0005g0040 a0008c0011t0005g0040	1	354	0.0028	449	c.523 others(468): Show c.523-13433_523-13432insAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGAGAGGGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAGGGAGAG GGAGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGGAGAG GGGAGAGGAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(442): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCC CCGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCGTG AGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGA CCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCA AAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGG CTGACCCCCCGCGAGACCAAAGGCTGACCCCCCCCCCCGAGACCAAAGGC TGACCCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCT GACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0125 a0002c0002t0001g0125	1	276	0.0036	449	c.535 others(466): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCT TTGGTCTCGGGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGGTCAGC CTTTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTT GGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTC TCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTC GGGGGGGGTCAGCCTTTGGTCTCACGGGGGGGTCAGCCTTTGGTCTCGGG GGCGGTCAGCCTTTGGTCTCGGGGGGTGTCAGCCTTTGGTCTCGGAGGGG GTCAGCCTTTGGTCTCGCGGGGGGCGTCAGCCGTTGGTCTCGGGGGGGGT CAGCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ANO9_chr11_412938_447011	431162	G G	GGGGGTGT others(442): Show GGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGGTGTG GGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCG TGGGTATCTGGGGGCTTCCGCGGGGGGTGTGGGGGCGTCTGCGGGTATCT GGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCT GCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGGTG TGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCC CGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATC TGGGGGGGGCGTCTGCGGGGGGTGTGGAGGGCGTCCGCGGGTATCTGGGG GCTTCCGCGGGGGTGTGGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	286	0.0035	449	c.539 others(464): Show c.539+531_539+532insTGCAGAAGCCCCCAGATACCCGCGGACGCC CCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCTCCACACC CCCCGCAGACGCCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCA GACGCCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCA GATACCCGCGGACGCCCCCACACCCCCCGCGGACGCCCCCAGATACCCGC GGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCC ACACCCCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCCG CGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCC CAGATACCCACGGGAGCCCCCACACCCCCTGCGGAAGCCCCCAGATACCC GCGGACGCCCCCACACCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar

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