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	status	chr	external
SCN7A_chr2_166398573_166499249	166475121	C C	CATATATA others(27): Show CATATATACGTATATATATATATATATATATACGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02027.hp2 HG02738.hp1 others(1): Show HG01261.hp2 HG02027.hp2 HG02738.hp1 NA18964.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0016 a0001c0001 a0014c0016	a0001c0001t0001 a0001c0001t0003 a0014c0016t0035 others(1): Show a0001c0001t0001 a0001c0001t0003 a0014c0016t0035 a0014c0016t0036	a0001c0001t0001g0324 a0001c0001t0003g0322 a0014c0016t0035g0357 others(1): Show a0001c0001t0001g0324 a0001c0001t0003g0322 a0014c0016t0035g0357 a0014c0016t0036g0358	4	316	0.0127	34	c.235 others(49): Show c.235-778_235-777insACGTATATATATATATATATATATACGTAT ATAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	3/25		chr2	TogoVar
SCN7A_chr2_166398573_166499249	166475122	A A	ATATATAC others(27): Show ATATATACGTATATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01081.hp2 HG01358.hp2 others(5): Show HG01071.hp1 HG01081.hp2 HG01358.hp2 HG02135.hp2 HG03704.hp1 HG04184.hp1 HG04184.hp2 NA19091.hp1	a0001 a0027 a0001 a0027	a0001c0001 a0027c0025 a0001c0001 a0027c0025	a0001c0001t0001 a0001c0001t0003 a0001c0001t0034 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0034 a0027c0025t0003	a0001c0001t0001g0288 a0001c0001t0001g0318 a0001c0001t0001g0319 others(5): Show a0001c0001t0001g0288 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0003g0350 a0001c0001t0034g0330 a0027c0025t0003g0333	8	323	0.0248	34	c.235 others(49): Show c.235-779_235-778insCGTATATATATATATATATATATATACGTA TATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	3/25		chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1288275	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0130 a0001c0012t0001g0130	1	247	0.0040	34	c.166 others(51): Show c.1662+239_1662+240insGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288457	C C	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18975.hp1 NA18954.hp2 NA18975.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0008 a0006c0015t0008	a0006c0015t0008g0273 a0006c0015t0008g0274 a0006c0015t0008g0273 a0006c0015t0008g0274	2	260	0.0077	34	c.166 others(51): Show c.1662+421_1662+422insGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288457	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01256.hp1 HG00639.hp1 HG01256.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0240 a0001c0009t0001g0241 a0001c0009t0001g0240 a0001c0009t0001g0241	2	260	0.0077	34	c.166 others(51): Show c.1662+421_1662+422insGTGTCTCTGCCCCGTCCCGTGTCCCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288457	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGAGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0281 a0005c0017t0001g0281	1	259	0.0039	34	c.166 others(51): Show c.1662+421_1662+422insGTGTCTCTGCTCCGTCCCGAGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288457	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	259	0.0039	34	c.166 others(51): Show c.1662+421_1662+422insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288549	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	254	0.0039	34	c.166 others(51): Show c.1662+513_1662+514insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288557	C C	CTCTGCTC others(27): Show CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01358.hp1 HG01255.hp2 HG01358.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0023 a0002c0003t0002g0026 a0002c0003t0002g0023 a0002c0003t0002g0026	2	285	0.0070	34	c.166 others(51): Show c.1662+533_1662+534insGTGTCTCTGCCCCGTCCCGTGTCTGCTC CGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288569	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01261.hp2 others(1): Show HG00639.hp2 HG01070.hp2 HG01261.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0180 a0001c0001t0001g0181 others(1): Show a0001c0001t0001g0164 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0194	4	263	0.0152	34	c.166 others(51): Show c.1662+533_1662+534insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288569	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA18971.hp2 HG01517.hp2 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0003 a0001c0012 a0002c0003	a0001c0012t0001 a0002c0003t0002 a0001c0012t0001 a0002c0003t0002	a0001c0012t0001g0130 a0002c0003t0002g0065 a0001c0012t0001g0130 a0002c0003t0002g0065	2	261	0.0077	34	c.166 others(51): Show c.1662+533_1662+534insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288607	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03017.hp1 HG02071.hp2 HG03017.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0003 a0001c0001t0001 a0003c0004t0003	a0001c0001t0001g0191 a0003c0004t0003g0148 a0001c0001t0001g0191 a0003c0004t0003g0148	2	266	0.0075	34	c.166 others(51): Show c.1662+571_1662+572insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288607	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0029 a0002c0003t0002g0029	1	265	0.0038	34	c.166 others(51): Show c.1662+571_1662+572insGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288607	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0021 a0021	a0021c0025 a0021c0025	a0021c0025t0001 a0021c0025t0001	a0021c0025t0001g0255 a0021c0025t0001g0255	1	265	0.0038	34	c.166 others(51): Show c.1662+571_1662+572insGTGTCTCTGCTCCGTCCCCCGTGTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288627	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	273	0.0037	34	c.166 others(51): Show c.1662+591_1662+592insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288701	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	269	0.0037	34	c.166 others(51): Show c.1662+665_1662+666insGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288793	C C	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19080.hp1 HG03654.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0177 a0001c0001t0005g0257 a0001c0001t0001g0177 a0001c0001t0005g0257	2	261	0.0077	34	c.166 others(51): Show c.1662+757_1662+758insGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288813	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0285 a0008c0007t0004g0285	1	258	0.0039	34	c.166 others(51): Show c.1662+777_1662+778insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288813	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02451.hp2 HG01975.hp2 HG02451.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0001 a0007c0006t0001 a0001c0001t0001 a0007c0006t0001	a0001c0001t0001g0205 a0007c0006t0001g0073 a0001c0001t0001g0205 a0007c0006t0001g0073	2	259	0.0077	34	c.166 others(51): Show c.1662+777_1662+778insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288923	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0023 a0002c0003t0002g0023	1	264	0.0038	34	c.166 others(51): Show c.1662+887_1662+888insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289035	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	254	0.0039	34	c.166 others(52): Show c.1662+999_1662+1000insGTGTCTCTGCTCCGTCCCGTGTCTCTG CCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289073	C C	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	253	0.0040	34	c.166 others(53): Show c.1662+1037_1662+1038insGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289073	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0007 a0006c0010t0007	a0006c0010t0007g0272 a0006c0010t0007g0272	1	253	0.0040	34	c.166 others(53): Show c.1662+1037_1662+1038insGTGTCTCTGCCCCGTCCCGTGTCCCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289073	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	253	0.0040	34	c.166 others(53): Show c.1662+1037_1662+1038insGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289073	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0025 a0025	a0025c0041 a0025c0041	a0025c0041t0001 a0025c0041t0001	a0025c0041t0001g0258 a0025c0041t0001g0258	1	253	0.0040	34	c.166 others(53): Show c.1662+1037_1662+1038insGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289093	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0074 a0007c0006t0001g0074	1	265	0.0038	34	c.166 others(53): Show c.1662+1057_1662+1058insGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTC	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(27): Show CCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	267	0.0037	34	c.166 others(53): Show c.1663-1095_1663-1094insGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289167	C C	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0010 a0009c0014t0001g0010	1	267	0.0037	34	c.166 others(53): Show c.1663-1103_1663-1102insGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289167	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0002 a0005c0017t0002	a0005c0017t0002g0287 a0005c0017t0002g0287	1	267	0.0037	34	c.166 others(53): Show c.1663-1103_1663-1102insGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289225	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	271	0.0037	34	c.166 others(53): Show c.1663-1045_1663-1044insGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289225	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	271	0.0037	34	c.166 others(53): Show c.1663-1045_1663-1044insGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTC	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(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	257	0.0039	34	c.166 others(53): Show c.1663-1007_1663-1006insGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTC	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(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02155.hp1 HG00639.hp1 HG02155.hp1	a0001 a0010 a0001 a0010	a0001c0009 a0010c0019 a0001c0009 a0010c0019	a0001c0009t0001 a0010c0019t0003 a0001c0009t0001 a0010c0019t0003	a0001c0009t0001g0241 a0010c0019t0003g0169 a0001c0009t0001g0241 a0010c0019t0003g0169	2	258	0.0078	34	c.166 others(53): Show c.1663-1007_1663-1006insGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289357	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0281 a0005c0017t0001g0281	1	260	0.0038	34	c.166 others(51): Show c.1663-913_1663-912insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289395	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	267	0.0037	34	c.166 others(51): Show c.1663-875_1663-874insGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289395	C C	CCGTGTCT others(27): Show CCGTGTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	267	0.0037	34	c.166 others(51): Show c.1663-875_1663-874insGTGTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289471	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0017 a0017	a0017c0038 a0017c0038	a0017c0038t0003 a0017c0038t0003	a0017c0038t0003g0282 a0017c0038t0003g0282	1	270	0.0037	34	c.166 others(51): Show c.1663-799_1663-798insGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289480	T T	TGCTCCGT others(27): Show TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	271	0.0037	34	c.166 others(51): Show c.1663-791_1663-790insGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289727	C C	CCGTGTCC others(27): Show CCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0017 a0017	a0017c0038 a0017c0038	a0017c0038t0003 a0017c0038t0003	a0017c0038t0003g0282 a0017c0038t0003g0282	1	266	0.0038	34	c.166 others(51): Show c.1663-543_1663-542insGTGTCCCTGCCCCGTCCCGTGTCTCTGC CCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289747	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	267	0.0037	34	c.166 others(51): Show c.1663-523_1663-522insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTC	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(27): Show CCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0266 a0001c0001t0011g0266	1	250	0.0040	34	c.166 others(51): Show c.1663-478_1663-477insTGCTCCGTCCCGTGTCCCTGCTCCGTCC CGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289785	C C	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0281 a0005c0017t0001g0281	1	250	0.0040	34	c.166 others(51): Show c.1663-485_1663-484insGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289785	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	250	0.0040	34	c.166 others(51): Show c.1663-485_1663-484insGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289785	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0096 a0002c0003t0001g0096	1	250	0.0040	34	c.166 others(51): Show c.1663-485_1663-484insGTGTCTCTGCTCCGTCCCCCGTGTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289823	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0098 a0002c0003t0002g0098	1	275	0.0036	34	c.166 others(51): Show c.1663-447_1663-446insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289966	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0016 a0016	a0016c0030 a0016c0030	a0016c0030t0002 a0016c0030t0002	a0016c0030t0002g0101 a0016c0030t0002g0101	1	273	0.0037	34	c.166 others(51): Show c.1663-304_1663-303insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	C C	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0150 a0003c0004t0003g0150	1	226	0.0044	34	c.166 others(51): Show c.1663-142_1663-141insGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCATC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0010 a0004c0005t0010	a0004c0005t0010g0123 a0004c0005t0010g0123	1	226	0.0044	34	c.166 others(51): Show c.1663-142_1663-141insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23204332	T T	TACATATA others(27): Show TACATATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0289 a0001c0002t0003g0289	1	151	0.0066	34	c.107 others(53): Show c.1078-5417_1078-5416insCATATATATATATATATATATATATA GAGAGAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12	INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204332	T T	TACATATA others(27): Show TACATATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0286 a0001c0002t0003g0286	1	151	0.0066	34	c.107 others(53): Show c.1078-5417_1078-5416insCATATATATATATATATATATATATA TAGAGAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12	INFO_REALIGN_3_PRIME	chr16	TogoVar

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