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
SCNN1D_chr1_1275436_1297025	1289073	C C	CCCCGTGT others(11): Show CCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	290	0.0035	18	c.166 others(37): Show c.1662+1040_1662+1041insTGTCTCTGCTCCGTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289087	T T	TCCGTCCC others(11): Show TCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	290	0.0035	18	c.166 others(37): Show c.1662+1057_1662+1058insGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289093	C C	CCCCGTGT others(11): Show CCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	290	0.0035	18	c.166 others(37): Show c.1662+1064_1662+1065insTCTGCCCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289161	T T	TCCGTCCC others(11): Show TCCGTCCCGTGTCCCTGCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0211 a0001c0009t0001g0211	1	290	0.0035	18	c.166 others(37): Show c.1663-1103_1663-1102insGTGTCCCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289167	C C	CCCCGTGT others(11): Show CCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	290	0.0035	18	c.166 others(37): Show c.1663-1096_1663-1095insCCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289175	C C	CTCTGCTC others(11): Show CTCTGCTCCGTCCCCCGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	290	0.0035	18	c.166 others(37): Show c.1663-1092_1663-1075dupGCTCCGTCCCCCGTGTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289181	T T	TCCGTCCC others(11): Show TCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	290	0.0035	18	c.166 others(37): Show c.1663-1083_1663-1082insGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289201	T T	TCCGTCCC others(11): Show TCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	290	0.0035	18	c.166 others(37): Show c.1663-1053_1663-1052insCCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289263	C C	CCCCGAGT others(11): Show CCCCGAGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	290	0.0035	18	c.166 others(37): Show c.1663-1004_1663-1003insAGTCTCTGCTCCGTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289289	C C	CTCTGCTC others(11): Show CTCTGCTCCGTCCCCCGTG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03225.hp2 HG02015.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0250 a0002c0002t0001g0046 a0001c0001t0001g0250 a0002c0002t0001g0046	2	290	0.0069	18	c.166 others(35): Show c.1663-982_1663-981insTCTGCTCCGTCCCCCGTG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289357	C C	CCCCGTGT others(11): Show CCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	290	0.0035	18	c.166 others(35): Show c.1663-892_1663-875dupGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289395	C C	CCCCGTGT others(11): Show CCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	290	0.0035	18	c.166 others(35): Show c.1663-854_1663-837dupGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289404	T T	TCTGCTCC others(11): Show TCTGCTCCGTCCCGTGTCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0006 a0001c0036t0006	a0001c0036t0006g0123 a0001c0036t0006g0123	1	290	0.0035	18	c.166 others(35): Show c.1663-850_1663-849insCCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289409	T T	TCCGTCCC others(11): Show TCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01358.hp1 others(2): Show HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01496.hp2 HG02145.hp2	a0002 a0016 a0002 a0016	a0002c0003 a0016c0030 a0002c0003 a0016c0030	a0002c0003t0001 a0002c0003t0002 a0016c0030t0002 a0002c0003t0001 a0002c0003t0002 a0016c0030t0002	a0002c0003t0001g0069 a0002c0003t0002g0012 a0002c0003t0002g0024 others(2): Show a0002c0003t0001g0069 a0002c0003t0002g0012 a0002c0003t0002g0024 a0002c0003t0002g0099 a0016c0030t0002g0103	5	290	0.0172	18	c.166 others(35): Show c.1663-845_1663-844insCCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289433	C C	CCCCGTGT others(11): Show CCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03486.hp1 HG01993.hp2 HG03486.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0002 a0007c0006t0001 a0001c0001t0002 a0007c0006t0001	a0001c0001t0002g0173 a0007c0006t0001g0072 a0001c0001t0002g0173 a0007c0006t0001g0072	2	290	0.0069	18	c.166 others(35): Show c.1663-825_1663-824insCCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289433	C C	CCCCGTGT others(11): Show CCCCGTGTCTCTGCCCTGT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0013 a0013	a0013c0043 a0013c0043	a0013c0043t0001 a0013c0043t0001	a0013c0043t0001g0147 a0013c0043t0001g0147	1	290	0.0035	18	c.166 others(35): Show c.1663-825_1663-824insCCTGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289485	T T	TCCGTCCC others(11): Show TCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0021 a0002c0003t0002g0021	1	290	0.0035	18	c.166 others(35): Show c.1663-769_1663-768insCCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289533	C C	CTCTGCTC others(11): Show CTCTGCTCCGTCCCCCGTG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	290	0.0035	18	c.166 others(35): Show c.1663-738_1663-737insTCTGCTCCGTCCCCCGTG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289551	C C	CTCTGCTC others(11): Show CTCTGCTCCGTCCCCCGTG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	290	0.0035	18	c.166 others(35): Show c.1663-720_1663-719insTCTGCTCCGTCCCCCGTG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289665	T T	TCCGTCCC others(11): Show TCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	290	0.0035	18	c.166 others(35): Show c.1663-599_1663-598insGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289741	T T	TCCGTCCC others(11): Show TCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	290	0.0035	18	c.166 others(35): Show c.1663-523_1663-522insGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289747	C C	CCCCGTGT others(11): Show CCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0018 a0002c0003t0001g0018	1	290	0.0035	18	c.166 others(35): Show c.1663-502_1663-485dupGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289785	C C	CCCCGTGT others(11): Show CCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0013 a0013	a0013c0043 a0013c0043	a0013c0043t0001 a0013c0043t0001	a0013c0043t0001g0147 a0013c0043t0001g0147	1	290	0.0035	18	c.166 others(35): Show c.1663-478_1663-477insTCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289817	T T	TCCGTCCC others(11): Show TCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0122 a0002c0003t0002g0122	1	290	0.0035	18	c.166 others(35): Show c.1663-447_1663-446insGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289933	T T	TGTCTCTG others(11): Show TGTCTCTGCTCCGTCCCGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0114 a0002c0003t0004g0114	1	290	0.0035	18	c.166 others(35): Show c.1663-321_1663-320insAGTCTCTGCTCCGTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290045	C C	CCTGCTCC others(11): Show CCTGCTCCGTCCCGTGTCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp2 HG00735.hp2 HG01496.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0203 a0002c0003t0002g0099 a0001c0001t0001g0203 a0002c0003t0002g0099	2	290	0.0069	18	c.166 others(35): Show c.1663-159_1663-142dupGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	C C	CCCCGTGT others(11): Show CCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	290	0.0035	18	c.166 others(35): Show c.1663-135_1663-134insCCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	C C	CCCCGTGT others(11): Show CCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01934.hp1 HG02071.hp1 others(7): Show HG00423.hp1 HG01934.hp1 HG02071.hp1 HG02132.hp1 HG03239.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp2 NA18995.hp2 NA19079.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0018 a0002c0002 others(2): Show a0001c0001 a0001c0018 a0002c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0018t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0018t0001 a0002c0002t0001 a0002c0003t0001 a0002c0003t0002 a0003c0004t0003	a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0018t0001g0251 others(7): Show a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0018t0001g0251 a0002c0002t0001g0029 a0002c0002t0001g0043 a0002c0002t0001g0068 a0002c0002t0001g0084 a0002c0003t0001g0054 a0002c0003t0002g0101 a0003c0004t0003g0220	10	290	0.0345	18	c.166 others(34): Show c.1663-116_1663-99dupTCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290173	C C	CCTACTCC others(11): Show CCTACTCCGTCCCGTGTCT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0001 a0018c0029t0001	a0018c0029t0001g0048 a0018c0029t0001g0048	1	290	0.0035	18	c.166 others(33): Show c.1663-96_1663-95insACTCCGTCCCGTGTCTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290173	C C	CCTGCTCC others(11): Show CCTGCTCCGTCCCGTGTCT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01255.hp2 HG01257.hp1 others(4): Show HG01123.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01496.hp2 HG01928.hp2 HG02293.hp1	a0002 a0004 a0016 a0002 a0004 a0016	a0002c0003 a0004c0005 a0016c0030 a0002c0003 a0004c0005 a0016c0030	a0002c0003t0002 a0004c0005t0002 a0016c0030t0002 a0002c0003t0002 a0004c0005t0002 a0016c0030t0002	a0002c0003t0002g0012 a0002c0003t0002g0021 a0002c0003t0002g0027 others(4): Show a0002c0003t0002g0012 a0002c0003t0002g0021 a0002c0003t0002g0027 a0002c0003t0002g0099 a0002c0003t0002g0104 a0004c0005t0002g0022 a0016c0030t0002g0103	7	290	0.0241	18	c.166 others(33): Show c.1663-81_1663-80insTCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290191	C C	CCTGCTCC others(11): Show CCTGCTCCGTCCCGTGTCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0002 a0005c0017t0002	a0005c0017t0002g0288 a0005c0017t0002g0288	1	290	0.0035	18	c.166 others(33): Show c.1663-75_1663-58dupTCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290196	T T	TCCGTCCC others(11): Show TCCGTCCCGTGTCCCTGCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0141 a0003c0004t0003g0141	1	290	0.0035	18	c.166 others(33): Show c.1663-63_1663-62insCCTGCCCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290199	G G	GTCCCGTG others(11): Show GTCCCGTGTCTCTGCTCCC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	290	0.0035	18	c.166 others(33): Show c.1663-58_1663-57insTCCCTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23180597	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG01109.hp1 others(16): Show HG00140.hp1 HG00408.hp2 HG01109.hp1 HG01433.hp1 HG01884.hp2 HG02132.hp1 HG02559.hp2 HG02647.hp1 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03486.hp2 HG03579.hp1 NA19001.hp2 NA19030.hp1 NA19081.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0003t0002	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0080 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0184 a0001c0001t0001g0207 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0005g0172 a0001c0001t0005g0235 a0001c0001t0009g0198 a0001c0003t0002g0139 a0001c0003t0002g0159 a0001c0003t0002g0186 a0001c0003t0002g0189	19	320	0.0594	18	c.-22 others(29): Show c.-2261_-2260insAAAAAAAAAAAAAAAAAA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding		2147		chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204310	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0284 a0001c0002t0003g0284	1	320	0.0031	18	c.107 others(37): Show c.1078-5423_1078-5422insCATATATATATATATATA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204314	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0136 a0001c0001t0005g0136	1	320	0.0031	18	c.107 others(37): Show c.1078-5419_1078-5418insCATATATATATATATATA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204334	T T	TATATAGA others(11): Show TATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0263 a0001c0002t0003g0263	1	320	0.0031	18	c.107 others(37): Show c.1078-5415_1078-5414insTATAGAGAGAGAGAGAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204334	T T	TATATATA others(11): Show TATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0293 a0001c0002t0003g0293	1	320	0.0031	18	c.107 others(37): Show c.1078-5415_1078-5414insTATATATATAGAGAGAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCPEP1_chr17_56973131_57011768	56977380	G G	GACACACA others(11): Show GACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG04115.hp2 NA18963.hp1 HG02055.hp1 HG04115.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0170	3	380	0.0079	18	c.-78 others(27): Show c.-780_-779insACACACACACACACACAC	SCPEP1	ENSG00000121064.13	transcript	ENST00000262288.8	protein_coding		750		chr17	TogoVar
SCPEP1_chr17_56973131_57011768	56977380	G G	GACAGACA others(11): Show GACAGACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	380	0.0026	18	c.-78 others(27): Show c.-780_-779insACAGACACACACACACAC	SCPEP1	ENSG00000121064.13	transcript	ENST00000262288.8	protein_coding		750		chr17	TogoVar
SCRG1_chr4_173379701_173404116	173386301	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG03516.hp2 HG01891.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0045 a0001c0001t0018g0045	2	380	0.0053	18	c.20 others(29): Show c.2022_*2039dupAAAAAAAAAAAAAAAAAA	SCRG1	ENSG00000164106.8	transcript	ENST00000296506.8	protein_coding	3/3	2039		chr4	TogoVar
SCRG1_chr4_173379701_173404116	173396741	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01261.hp2 HG01358.hp1 others(4): Show HG00323.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG02258.hp1 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0016 a0001c0001t0027	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0002g0188 others(4): Show a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0002g0188 a0001c0001t0002g0191 a0001c0001t0011g0147 a0001c0001t0016g0148 a0001c0001t0027g0204	7	380	0.0184	18	c.-15 others(35): Show c.-15+2326_-15+2327insTCACACACACACACACAC	SCRG1	ENSG00000164106.8	transcript	ENST00000296506.8	protein_coding	1/2			chr4	TogoVar
SCRG1_chr4_173379701_173404116	173399465	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00544.hp2 others(35): Show HG00140.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG01069.hp1 HG01071.hp1 HG01346.hp2 HG01358.hp2 HG01975.hp2 HG02109.hp1 HG02683.hp1 HG02723.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA18964.hp2 NA19007.hp2 NA19009.hp2 NA19055.hp2 NA19066.hp2 NA19072.hp1 NA19083.hp1 NA19086.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 a0001c0001t0037 a0002c0002t0002	a0001c0001t0001g0005 a0001c0001t0001g0106 a0001c0001t0001g0109 others(19): Show a0001c0001t0001g0005 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0042 a0001c0001t0002g0079 a0001c0001t0002g0104 a0001c0001t0003g0018 a0001c0001t0003g0040 a0001c0001t0003g0095 a0001c0001t0004g0039 a0001c0001t0005g0127 a0001c0001t0007g0092 a0001c0001t0010g0038 a0001c0001t0011g0094 a0001c0001t0013g0037 a0001c0001t0013g0091 a0001c0001t0013g0105 a0001c0001t0021g0036 a0001c0001t0037g0088 a0002c0002t0002g0075	38	380	0.1000	18	c.-43 others(27): Show c.-430_-413dupACACACACACACACACAC	SCRG1	ENSG00000164106.8	transcript	ENST00000296506.8	protein_coding		350		chr4	TogoVar
SCRN1_chr7_29915109_29994801	29915215	T T	TCCTACTG others(11): Show TCCTACTGTTTACAGTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01261.hp2 HG01981.hp2 others(1): Show HG00639.hp2 HG01261.hp2 HG01981.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0144 others(1): Show a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0144 a0001c0001t0006g0195	4	274	0.0146	18	c.87 others(29): Show c.8724_*8741dupGACACTGTAAACAGTAGG	SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding		4893		chr7	TogoVar
SCRN1_chr7_29915109_29994801	29966159	C C	CAGACAGA others(11): Show CAGACAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	274	0.0037	18	c.159 others(35): Show c.159+2749_159+2750insCTCTCTCTCTCTCTGTCT	SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding	2/7			chr7	TogoVar
SCRN1_chr7_29915109_29994801	29966159	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG03579.hp2 HG02055.hp2 HG02451.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0012 a0002c0004t0006 a0001c0001t0012 a0002c0004t0006	a0001c0001t0012g0175 a0001c0001t0012g0218 a0002c0004t0006g0225 a0001c0001t0012g0175 a0001c0001t0012g0218 a0002c0004t0006g0225	3	274	0.0110	18	c.159 others(35): Show c.159+2732_159+2749dupCTCTCTCTCTCTCTCTCT	SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding	2/7			chr7	TogoVar
SCRN1_chr7_29915109_29994801	29990389	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02280.hp2 HG02572.hp2 others(3): Show HG01243.hp2 HG02280.hp2 HG02572.hp2 HG03834.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0022 others(2): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0022 a0002c0002t0009 a0002c0002t0035	a0001c0001t0003g0259 a0001c0001t0008g0248 a0001c0001t0022g0261 others(2): Show a0001c0001t0003g0259 a0001c0001t0008g0248 a0001c0001t0022g0261 a0002c0002t0009g0002 a0002c0002t0035g0231	6	274	0.0219	18	c.-75 others(27): Show c.-750_-749insCACACACACACACACACA	SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding		589		chr7	TogoVar
SCTR_chr2_119434843_119529483	119444718	T T	TATACACA others(11): Show TATACACATATACGTATGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0065 a0001c0004t0004g0065	1	290	0.0035	18	c.114 others(37): Show c.1140+2040_1140+2041insTCATACGTATATGTGTAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCTR_chr2_119434843_119529483	119444744	T T	TATACACA others(11): Show TATACACATATACGTATGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0155 a0001c0004t0001g0155	1	290	0.0035	18	c.114 others(37): Show c.1140+2014_1140+2015insTCATACGTATATGTGTAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCTR_chr2_119434843_119529483	119512340	C C	CCCTTCCC others(11): Show CCCTTCCCCTTCCCCTTCT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG04115.hp2 HG01433.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0085 a0001c0001t0003g0022 a0001c0001t0003g0085	2	290	0.0069	18	c.72+ others(35): Show c.72+11814_72+11815insAGAAGGGGAAGGGGAAGG	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	1/12			chr2	TogoVar

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