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
SAMD11_chr1_918923_949574	939398	G G	GCCTCCCC others(89): Show GCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCAC CTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01884.hp1 HG01884.hp2 others(14): Show HG01099.hp2 HG01884.hp1 HG01884.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02572.hp2 HG02896.hp2 HG02970.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp2 NA18522.hp1 NA19043.hp1	a0004 a0006 a0004 a0006	a0004c0008 a0004c0035 a0006c0007 a0004c0008 a0004c0035 a0006c0007	a0004c0008t0002 a0004c0008t0006 a0004c0008t0017 others(3): Show a0004c0008t0002 a0004c0008t0006 a0004c0008t0017 a0004c0035t0002 a0006c0007t0008 a0006c0007t0022	a0004c0008t0002g0266 a0004c0008t0002g0267 a0004c0008t0002g0286 others(14): Show a0004c0008t0002g0266 a0004c0008t0002g0267 a0004c0008t0002g0286 a0004c0008t0002g0313 a0004c0008t0006g0277 a0004c0008t0006g0299 a0004c0008t0017g0348 a0004c0008t0017g0355 a0004c0035t0002g0340 a0006c0007t0008g0272 a0006c0007t0008g0273 a0006c0007t0008g0274 a0006c0007t0008g0275 a0006c0007t0008g0276 a0006c0007t0008g0280 a0006c0007t0008g0296 a0006c0007t0022g0279	17	404	0.0421	96	c.119 others(111): Show c.1195+72_1195+73insCCCCTCATCACCTCCCCAGCCACGGTGAGG ACCCACCCTGGCATGATCCCCCTCATCACCTCCCCAGCCACGGTGAGGAC CCACCCTGGCATGATC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133668832	C C	CCCTCACC others(89): Show CCCTCACCCTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTCC CTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0006 a0006	a0006c0038 a0006c0038	a0006c0038t0001 a0006c0038t0001	a0006c0038t0001g0092 a0006c0038t0001g0092	1	216	0.0046	96	c.249 others(115): Show c.2495+1751_2495+1752insAGAGGGAGGATGAGGGGAGAGGGAGG GTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGT AGGGGAGAGGGAGGGTGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARS2_chr19_38910266_38935763	38929261	T T	TAAGATTG others(89): Show TAAGATTGTGGAGTCTGTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	418	0.0024	96	c.267 others(113): Show c.267+1208_267+1209insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGTGGGACTGCGGACTGCAGTGGCG CACAGACTCCACAATCTT	SARS2	ENSG00000104835.15	transcript	ENST00000221431.11	protein_coding	1/15			chr19	TogoVar
SART1_chr11_65956734_65985137	65971044	G G	GTGGTGGG others(89): Show GTGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03704.hp1 HG02015.hp1 HG03704.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0085 a0002c0001t0001g0086	2	344	0.0058	96	c.157 others(115): Show c.1572+3235_1572+3236insTGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCA	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971268	A A	AGCTGAGG others(89): Show AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02257.hp2 others(7): Show HG02055.hp2 HG02109.hp1 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02572.hp2 HG02970.hp2 HG03041.hp1 HG03195.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0003t0015 a0001c0004t0006 others(1): Show a0001c0003t0003 a0001c0003t0015 a0001c0004t0006 a0001c0004t0007	a0001c0003t0003g0022 a0001c0003t0003g0060 a0001c0003t0003g0061 others(7): Show a0001c0003t0003g0022 a0001c0003t0003g0060 a0001c0003t0003g0061 a0001c0003t0003g0062 a0001c0003t0003g0064 a0001c0003t0015g0022 a0001c0004t0006g0045 a0001c0004t0006g0046 a0001c0004t0006g0047 a0001c0004t0007g0068	10	228	0.0439	96	c.157 others(115): Show c.1572+3505_1572+3506insTGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCA	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SATL1_chrX_85087284_85248779	85088169	C C	CATATATG others(89): Show CATATATGTATAAATACATACATATTTATACATATATATGTATAAATACA TACATATTTATACATATATATGTATAAATACATACATATTTATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	185	0.0054	96	c.42 others(107): Show c.4221_*4222insATGTATAAATATGTATGTATTTATACATATATAT GTATAAATATGTATGTATTTATACATATATATGTATAAATATGTATGTAT TTATACATATAT	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4114		chrX	TogoVar
SCD5_chr4_82624539_82803796	82712256	A A	ATACATAT others(89): Show ATACATATGTATATATATATATATATATATACATATATATATATATATAC ATATATATATATATATACGTATATATATATACATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG01891.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0056 a0001c0001t0008g0197 a0001c0001t0001g0056 a0001c0001t0008g0197	2	189	0.0106	96	c.233 others(113): Show c.233-6844_233-6843insCGTATATATATATATGTATATATATATA CGTATATATATATATATATGTATATATATATATATATGTATATATATATA TATATATATACATATGTA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712256	A A	ATACATAT others(89): Show ATACATATGTATATATATATATATATATATACATATATATATATATATAT ACACATATATATATATACGTATATATATATACATATATATATATACG	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19240.hp1 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0183 a0001c0001t0006g0009 a0001c0001t0001g0183 a0001c0001t0006g0009	2	189	0.0106	96	c.233 others(113): Show c.233-6844_233-6843insCGTATATATATATATGTATATATATATA CGTATATATATATATGTGTATATATATATATATATATGTATATATATATA TATATATATACATATGTA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712258	A A	ACATATAT others(89): Show ACATATATATATATATATATACATATACATATATATATATATATATACAT ATATATATATATATACGTATATATATATACATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	195	0.0051	96	c.233 others(113): Show c.233-6846_233-6845insCGTATATATATATATATGTATATATATA TACGTATATATATATATATATGTATATATATATATATATATGTATATGTA TATATATATATATATATG	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712281	T T	TACACATA others(89): Show TACACATATATATATATATATACATATATATATATATATACGTATATATA TATACATATATATATATATACGTATATATATATATATATATGTATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	185	0.0054	96	c.233 others(113): Show c.233-6869_233-6868insGTATACATATATATATATATATATACGT ATATATATATATATGTATATATATATACGTATATATATATATATATGTAT ATATATATATATATGTGT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712281	T T	TATACATA others(89): Show TATACATATATATATATATATATATACATATATATATATATATACGTATA TATATATACATATATATATATATACGTATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02004.hp2 HG02735.hp1 HG00280.hp2 HG02004.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0156 a0001c0001t0004g0018 a0001c0001t0004g0027 a0001c0001t0002g0156 a0001c0001t0004g0018 a0001c0001t0004g0027	3	187	0.0160	96	c.233 others(113): Show c.233-6869_233-6868insGTATATATATATATATATATACGTATAT ATATATATATGTATATATATATACGTATATATATATATATATGTATATAT ATATATATATATATGTAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712281	T T	TATACGTA others(89): Show TATACGTATATATATATATATATATACATATATATATATATATACGTATA TATATATACATATATATATATATACGTATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0155 a0001c0001t0004g0155	1	185	0.0054	96	c.233 others(113): Show c.233-6869_233-6868insGTATATATATATATATATATACGTATAT ATATATATATGTATATATATATACGTATATATATATATATATGTATATAT ATATATATATATACGTAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCNN1D_chr1_1275436_1297025	1288404	C C	CGTGTCTC others(89): Show CGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0002 a0005c0017t0002	a0005c0017t0002g0287 a0005c0017t0002g0287	1	288	0.0035	96	c.166 others(113): Show c.1662+372_1662+373insTCTGCCCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTC TGCCCCGTCCCCTGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288583	T T	TCCGTCCC others(89): Show TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	249	0.0040	96	c.166 others(113): Show c.1662+553_1662+554insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288719	T T	TCCCGTGT others(89): Show TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	246	0.0041	96	c.166 others(113): Show c.1662+695_1662+696insCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288961	T T	TCCCGTGT others(89): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	245	0.0041	96	c.166 others(113): Show c.1662+963_1662+964insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289243	T T	TCCCGTGT others(89): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0028 a0028	a0028c0024 a0028c0024	a0028c0024t0001 a0028c0024t0001	a0028c0024t0001g0059 a0028c0024t0001g0059	1	257	0.0039	96	c.166 others(115): Show c.1663-1007_1663-1006insGTGTCTCTGCTCCATTCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCC CCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289263	C C	CCGTGTCT others(89): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0137 a0003c0004t0003g0137	1	257	0.0039	96	c.166 others(115): Show c.1663-1007_1663-1006insGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289295	C C	CCCGTCCC others(89): Show CCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	131	0.0076	96	c.166 others(113): Show c.1663-969_1663-968insCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289516	T T	TCTCTGCT others(89): Show TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT CCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	267	0.0037	96	c.166 others(113): Show c.1663-753_1663-752insCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289543	T T	TCCCGTGT others(89): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0100	1	230	0.0043	96	c.166 others(113): Show c.1663-720_1663-719insTCTGCTCCGTCCCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTC TGCTCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289726	C C	CCCGTGTC others(89): Show CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTG CCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCATT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0016 a0016	a0016c0030 a0016c0030	a0016c0030t0002 a0016c0030t0002	a0016c0030t0002g0101 a0016c0030t0002g0101	1	278	0.0036	96	c.166 others(113): Show c.1663-543_1663-542insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCATTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444926	C C	CACATATA others(89): Show CACATATATTCGTACGAATATATATACATATATTCGTACGAATATATATA CATATATTCGTACGAATATATATACATATATTCGTACGAATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG03927.hp1 HG01167.hp2 HG01169.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0108 a0001c0002t0004g0030 a0001c0002t0004g0057 a0001c0002t0001g0108 a0001c0002t0004g0030 a0001c0002t0004g0057	3	240	0.0125	96	c.114 others(115): Show c.1140+1832_1140+1833insATATATATTCGTACGAATATATGTAT ATATATTCGTACGAATATATGTATATATATTCGTACGAATATATGTATAT ATATTCGTACGAATATATGT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SDHA_chr5_213320_262082	260202	T T	TCCCGTCA others(89): Show TCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACC GTGTGAGCTCCGCCTCCGTCAGAGCATTACCGTGTGAGCTCCGCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 NA18986.hp2 HG02083.hp1 NA18986.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0025 a0004c0004t0001g0144 a0004c0004t0001g0025 a0004c0004t0001g0144	2	163	0.0123	96	c.37 others(107): Show c.3782_*3783insCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCC CGTCAGAGCATTACCGTGTGAGCTCCGCCTCCGTCAGAGCATTACCGTGT GAGCTCCGCCTC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3121		chr5	TogoVar
SDHA_chr5_213320_262082	260689	G G	GAGCATTA others(89): Show GAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGC TCCGCCCCCCGCCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	257	0.0039	96	c.42 others(107): Show c.4269_*4270insAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAG CATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGTGTGAGCTCC GCCTCCCGTCAC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3608		chr5	TogoVar
SEL1L2_chr20_13844247_13995614	13848513	A A	AAGAAGAA others(89): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGCAGAAGCAGGAGAAGAA GAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	306	0.0033	96	c.97 others(105): Show c.971_*972insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCT TCTTCTTCTTCTTCTTCTCCTGCTTCTGCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		733		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(89): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAG GAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA19009.hp1 NA18997.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0054 a0001c0001t0002g0032 a0001c0001t0002g0054	2	37	0.0541	96	c.92 others(105): Show c.929_*930insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCC TCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		691		chr20	TogoVar
SEMA3A_chr7_83950777_84199789	84091100	G G	GAGAAAGA others(89): Show GAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	270	0.0037	96	c.453 others(115): Show c.453+19369_453+19370insTTCCTTCCTTCCTTCCTTCTTTCTTT CTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(89): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAGAAAGAAAGAAAGAAGGAAGGAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0099 a0001c0002t0002g0099	1	187	0.0053	96	c.453 others(115): Show c.453+19349_453+19350insCTTTCTTTCCTTCCTTCCTTCTTTCT TTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(89): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA19009.hp2 HG01192.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0150 a0001c0001t0007g0092 a0001c0001t0003g0150 a0001c0001t0007g0092	2	188	0.0106	96	c.453 others(115): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCCTTCCTTCC TTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(89): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAGAAAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02148.hp1 HG02132.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0005 a0001c0002t0002 a0001c0003t0005	a0001c0002t0002g0172 a0001c0003t0005g0252 a0001c0002t0002g0172 a0001c0003t0005g0252	2	188	0.0106	96	c.453 others(115): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCCTTCC TTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(89): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18993.hp1 HG00738.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0101 a0001c0001t0007g0231 a0001c0001t0003g0101 a0001c0001t0007g0231	2	188	0.0106	96	c.453 others(115): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCC TTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(89): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA AAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0048 a0001c0004t0005g0048	1	187	0.0053	96	c.453 others(115): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091120	A A	AAGAAAGA others(89): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGA AAGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0009 a0001c0004t0016g0009	1	187	0.0053	96	c.453 others(115): Show c.453+19349_453+19350insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84167059	G G	GATCACAC others(89): Show GATCACACATGAAAATGACAGACCAGAATTATGTAATAATAAAAAGACAG GCATATCCCCAAAGTATAGTGCATCTTGTAGGACTGATGCACTACAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0008 a0003c0014t0008	a0003c0014t0008g0160 a0003c0014t0008g0160	1	161	0.0062	96	c.112 others(115): Show c.112+27415_112+27416insATGTAGTGCATCAGTCCTACAAGATG CACTATACTTTGGGGATATGCCTGTCTTTTTATTATTACATAATTCTGGT CTGTCATTTTCATGTGTGAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	1/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84167059	G G	GATCACAC others(89): Show GATCACACATGCAAATGACAGACCAGAATTATGTAATAATAAAAAGACAG GCATATCCCCAAAGTATAGTGCATCTTGTAGGACTGATGCACTACAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp2 HG00621.hp2 others(109): Show HG00099.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03579.hp2 HG03654.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA18993.hp1 NA19000.hp1 NA19001.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0016 a0002c0006 a0002c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0002t0002 a0001c0003t0005 a0001c0003t0006 a0001c0003t0012 a0001c0003t0020 a0001c0004t0005 a0001c0004t0008 a0001c0004t0016 a0001c0004t0036 a0001c0005t0001 a0001c0005t0004 a0001c0005t0009 a0001c0005t0011 a0001c0005t0034 a0001c0007t0001 a0001c0016t0002 a0002c0006t0010 a0002c0009t0021	a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0035 others(109): Show a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0273 a0001c0001t0003g0023 a0001c0001t0003g0043 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0060 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0098 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0124 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0137 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0261 a0001c0001t0004g0059 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0223 a0001c0001t0007g0092 a0001c0001t0007g0158 a0001c0001t0007g0185 a0001c0001t0007g0186 a0001c0001t0007g0187 a0001c0001t0007g0192 a0001c0001t0007g0231 a0001c0001t0007g0236 a0001c0001t0007g0269 a0001c0001t0007g0270 a0001c0001t0009g0013 a0001c0001t0011g0107 a0001c0001t0011g0195 a0001c0001t0017g0007 a0001c0001t0017g0263 a0001c0001t0018g0003 a0001c0001t0018g0121 a0001c0001t0024g0212 a0001c0001t0027g0272 a0001c0001t0029g0025 a0001c0002t0002g0097 a0001c0002t0002g0099 a0001c0002t0002g0172 a0001c0002t0002g0262 a0001c0002t0002g0268 a0001c0002t0002g0271 a0001c0003t0005g0252 a0001c0003t0006g0083 a0001c0003t0006g0222 a0001c0003t0012g0174 a0001c0003t0012g0190 a0001c0003t0012g0232 a0001c0003t0020g0168 a0001c0003t0020g0170 a0001c0004t0005g0048 a0001c0004t0008g0157 a0001c0004t0008g0247 a0001c0004t0016g0217 a0001c0004t0036g0012 a0001c0005t0001g0002 a0001c0005t0001g0011 a0001c0005t0001g0079 a0001c0005t0001g0159 a0001c0005t0001g0164 a0001c0005t0001g0209 a0001c0005t0004g0027 a0001c0005t0004g0028 a0001c0005t0004g0036 a0001c0005t0004g0037 a0001c0005t0004g0188 a0001c0005t0004g0194 a0001c0005t0009g0249 a0001c0005t0011g0177 a0001c0005t0034g0041 a0001c0007t0001g0081 a0001c0016t0002g0136 a0002c0006t0010g0004 a0002c0006t0010g0005 a0002c0006t0010g0056 a0002c0009t0021g0265 a0002c0009t0021g0266	112	272	0.4118	96	c.112 others(115): Show c.112+27415_112+27416insATGTAGTGCATCAGTCCTACAAGATG CACTATACTTTGGGGATATGCCTGTCTTTTTATTATTACATAATTCTGGT CTGTCATTTGCATGTGTGAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	1/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84167059	G G	GATCACAC others(89): Show GATCACACATGCAAATGACAGACCAGAATTATGTAATAATAAAAAGACAG TCATATCCCCAAAGTATAGTGCATCTTGTAGGACTGATGCACTACAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0267 a0001c0001t0026g0267	1	161	0.0062	96	c.112 others(115): Show c.112+27415_112+27416insATGTAGTGCATCAGTCCTACAAGATG CACTATACTTTGGGGATATGACTGTCTTTTTATTATTACATAATTCTGGT CTGTCATTTGCATGTGTGAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83389958	A A	AGTGTATA others(89): Show AGTGTATACGTATACACATATATACGCGTATATGTGTATACGTATACACA TATATACGCGTATATGTGTATACGTATACACATATATACGCGTATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0002 a0001c0001t0017g0002	1	143	0.0070	96	c.166 others(115): Show c.1667+2596_1667+2597insATATACGCGTATATATGTGTATACGT ATACACATATACGCGTATATATGTGTATACGTATACACATATACGCGTAT ATATGTGTATACGTATACAC	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89373466	T T	TGACCTTC others(89): Show TGACCTTCCATCAGTCAGCCCTCTCTGGGGGGTGAGACGCTCCCCAAGAC ACAGGGTCACCCAGCAGAGCTACAGGCACCAGGACGCAGCATGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	368	0.0027	96	c.51 others(107): Show c.5142_*5237dupTCCCCATGCTGCGTCCTGGTGCCTGTAGCTCTGC TGGGTGACCCTGTGTCTTGGGGAGCGTCTCACCCCCCAGAGAGGGCTGAC TGATGGAAGGTC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding		3768		chr9	TogoVar
SEPTIN9_chr17_77276499_77505593	77380254	G G	GGCCCGCC others(89): Show GGCCCGCCCCCCCCCCCCCCCCCGCATGCCCGCCTCCCCCTCCATGCCCG CCTCCCCCTCCATGCCCGCCTCCCCCTCCATGCCCGCTCCCCCCCAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	118	0.0085	96	c.77- others(113): Show c.77-21789_77-21788insCCCCCCGCATGCCCGCCTCCCCCTCCAT GCCCGCCTCCCCCTCCATGCCCGCCTCCCCCTCCATGCCCGCTCCCCCCC ATGCCCGCCCCCCCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77380254	G G	GGCCCGCC others(89): Show GGCCCGCCCCCCCCCCCCCCCCCGCATGCCCGCCTCCCCCTCCATGCCCG CCTCCCCCTCCATGCCCGCCTCCCCCTCCATGCCCGCTCCCCCCCAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02273.hp1 HG02273.hp2 HG01934.hp1 HG02273.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0044	3	124	0.0242	96	c.23- others(113): Show c.23-21789_23-21788insCCCCCCGCATGCCCGCCTCCCCCTCCAT GCCCGCCTCCCCCTCCATGCCCGCCTCCCCCTCCATGCCCGCTCCCCCCC ATGCCCGCCCCCCCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERPINB12_chr18_63537369_63574329	63559040	T T	TTCTTTCT others(89): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0202 a0001c0001t0019g0202	1	223	0.0045	96	c.304 others(111): Show c.304-519_304-518insTTCTTTCTTTCTTTCTTTCTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCT TTCTTTCTTTCTTTCT	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB9_chr6_2882270_2908309	2893193	T T	TATATATA others(89): Show TATATATATATTATATATACGTATATATATATAATATATATATATTATAT ATACGTATATATATATAATATATATATATTATATATACGTATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0128 a0001c0001t0128	a0001c0001t0128g0288 a0001c0001t0128g0288	1	414	0.0024	96	c.567 others(111): Show c.567+217_567+218insTATATATACGTATATATAATATATATATAT TATATATATATACGTATATATAATATATATATATTATATATATATACGTA TATATAATATATATAT	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding	5/6			chr6	TogoVar
SGIP1_chr1_66529153_66756139	66630845	A A	AAGAAAGA others(89): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGA GAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0072 a0001c0001t0010g0072	1	281	0.0036	96	c.75- others(111): Show c.75-2190_75-2189insGAGAGAGAGAGAGAGAGAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3BP5_chr3_15249353_15337586	15272527	C C	CTAAAGAC others(89): Show CTAAAGACATTACAAAACAGAGTGCCCGTAGGATAAAGACATTACAAAAC AGAGTGCCCGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18964.hp1 NA18974.hp1 NA18960.hp2 NA18964.hp1 NA18974.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0002 a0001c0001t0003 a0006c0012t0002 a0001c0001t0002 a0001c0001t0003 a0006c0012t0002	a0001c0001t0002g0064 a0001c0001t0003g0098 a0006c0012t0002g0058 a0001c0001t0002g0064 a0001c0001t0003g0098 a0006c0012t0002g0058	3	182	0.0165	96	c.331 others(113): Show c.331-2651_331-2650insTCCTACAGGCACTCTGTTTTGTAATGTC TTTATCCTACGGGCACTCTGTTTTGTAATGTCTTTATCCTACGGGCACTC TGTTTTGTAATGTCTTTA	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15272527	C C	CTAAAGAC others(89): Show CTAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAAC AGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCCGTAGGA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03834.hp2 HG04184.hp1 HG03710.hp2 HG03834.hp2 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0202 a0001c0002t0001g0257 a0002c0003t0001g0166 a0001c0002t0001g0202 a0001c0002t0001g0257 a0002c0003t0001g0166	3	182	0.0165	96	c.331 others(113): Show c.331-2746_331-2651dupTCCTACGGGCACTCTGTTTTGTAATGTC TTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTC TGTTTTGTAATGTCTTTA	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15272527	C C	CTAAAGAC others(89): Show CTAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAAC AGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00741.hp2 others(4): Show HG00099.hp1 HG00558.hp1 HG00741.hp2 HG01081.hp1 HG01516.hp1 HG02083.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0168 a0001c0001t0001g0195 a0001c0001t0003g0126 others(4): Show a0001c0001t0001g0168 a0001c0001t0001g0195 a0001c0001t0003g0126 a0001c0002t0001g0254 a0001c0002t0001g0305 a0001c0002t0001g0338 a0001c0002t0003g0128	7	186	0.0376	96	c.331 others(113): Show c.331-2651_331-2650insTCCTACAGGCACTCTGTTTTGTAATGTC TTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTC TGTTTTGTAATGTCTTTA	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15272632	T T	TATTACAA others(89): Show TATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGC CTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGAC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0138 a0001c0002t0003g0138	1	355	0.0028	96	c.331 others(113): Show c.331-2756_331-2755insGTCTTTATCCTACAGGCACTCTGTTTTG TAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACA GGCACTCTGTTTTGTAAT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SH3YL1_chr2_213144_269032	214424	T T	TGGGCTGC others(89): Show TGGGCTGCTCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCG GGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	278	0.0036	96	c.43 others(107): Show c.4386_*4387insGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTT GGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGG CAGGAGCAGCCC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3719		chr2	TogoVar
SH3YL1_chr2_213144_269032	214481	C C	CCTGCCAA others(89): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCCC TGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	324	0.0031	96	c.43 others(107): Show c.4329_*4330insAAGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCG GTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGT GCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3662		chr2	TogoVar

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