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
SCN8A_chr12_51586233_51817864	51677056	G G	GTTTTATT others(13): Show GTTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0136 a0001c0002t0007g0136	1	202	0.0050	20	c.277 others(37): Show c.277-7082_277-7063dupTTTTATTTTATTTTATTTTA	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51721081	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0181 a0001c0016t0004g0181	1	202	0.0050	20	c.163 others(37): Show c.1636-458_1636-439dupTATATATATATATATATATA	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166191744	T T	TATATACA others(13): Show TATATACACATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0014 a0014	a0014c0031 a0014c0031	a0014c0031t0006 a0014c0031t0006	a0014c0031t0006g0192 a0014c0031t0006g0192	1	296	0.0034	20	c.69 others(31): Show c.6927_*6928insGTATATATATATGTGTATAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding		3440		chr2	TogoVar
SCN9A_chr2_166190185_166380944	166199975	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01943.hp2 HG00741.hp1 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0168 a0001c0005t0001g0089 a0001c0002t0001g0168 a0001c0005t0001g0089	2	296	0.0068	20	c.477 others(37): Show c.4775-131_4775-112dupAAAAAAAAAAAAAAAAAAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166288120	T T	TATATATA others(13): Show TATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19082.hp2 NA19002.hp1 NA19082.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0002 a0001c0017t0001 a0001c0017t0002	a0001c0017t0001g0130 a0001c0017t0002g0129 a0001c0017t0001g0130 a0001c0017t0002g0129	2	296	0.0068	20	c.131 others(37): Show c.1314+316_1314+317insGTGTGTGTATATATATATAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	10/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166311330	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	296	0.0034	20	c.258 others(35): Show c.258+149_258+168dupTATATATATATATATATATA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	2/26			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23300993	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02818.hp2 others(1): Show HG02145.hp1 HG02280.hp1 HG02818.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0007 a0001c0001 a0002c0004 a0002c0007	a0001c0001t0001 a0001c0001t0004 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0004t0001 a0002c0007t0001	a0001c0001t0001g0085 a0001c0001t0004g0086 a0002c0004t0001g0005 others(1): Show a0001c0001t0001g0085 a0001c0001t0004g0086 a0002c0004t0001g0005 a0002c0007t0001g0087	4	306	0.0131	20	c.-14 others(31): Show c.-1453_-1452insGTGTGTGTGTGTGTGTGTGT	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding		1308		chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23343581	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	306	0.0033	20	c.-8- others(35): Show c.-8-4961_-8-4942dupGAAAGAAAGAAAGAAAGAAA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23343656	A A	AAAGAAAG others(13): Show AAAGAAAGAAAAAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02055.hp2 HG03139.hp1 others(4): Show HG00323.hp1 HG02055.hp2 HG03139.hp1 HG04184.hp1 NA18965.hp1 NA18966.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0002t0001 a0002c0007t0001 a0001c0001t0001 a0001c0002t0001 a0002c0007t0001	a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0057 others(4): Show a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0057 a0001c0001t0001g0186 a0001c0002t0001g0048 a0002c0007t0001g0087 a0002c0007t0001g0283	7	306	0.0229	20	c.-8- others(35): Show c.-8-4933_-8-4932insAAAGAAAAAAAGAAAGGAAG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23346200	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	306	0.0033	20	c.-8- others(35): Show c.-8-2382_-8-2363dupTTTTTTTTTTTTTTTTTTTT	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23360201	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02165.hp1 HG01258.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0259 a0001c0001t0001g0029 a0001c0001t0001g0259	2	306	0.0065	20	c.776 others(37): Show c.776+4720_776+4739dupTAAATAAATAAATAAATAAA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23360209	T T	TAAATAAA others(13): Show TAAATAAATAAATAAATAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	306	0.0033	20	c.776 others(37): Show c.776+4739_776+4740insAAAATAAATAAATAAATAAA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1282900	C C	CTGCCACC others(13): Show CTGCCACCGCGCCCACCTAAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	290	0.0035	20	c.351 others(35): Show c.351+587_351+606dupGCCACCGCGCCCACCTAATT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288219	T T	TCCCGTGT others(13): Show TCCCGTGTCCCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0013 a0013	a0013c0042 a0013c0042	a0013c0042t0001 a0013c0042t0001	a0013c0042t0001g0129 a0013c0042t0001g0129	1	290	0.0035	20	c.166 others(37): Show c.1662+190_1662+191insCCTGCTCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288222	C C	CGTGTCTC others(13): Show CGTGTCTCTGCTCCATTCCCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0284 a0008c0007t0004g0284	1	290	0.0035	20	c.166 others(37): Show c.1662+198_1662+199insATTCCCTGTGTCTCTGCTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288299	G G	GTCTCTGC others(13): Show GTCTCTGCTCCGTCCCGTGTC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0024 a0024	a0024c0037 a0024c0037	a0024c0037t0001 a0024c0037t0001	a0024c0037t0001g0090 a0024c0037t0001g0090	1	290	0.0035	20	c.166 others(37): Show c.1662+265_1662+266insCTGCTCCGTCCCGTGTCTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288365	T T	TCCCGTGT others(13): Show TCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01256.hp2 HG01257.hp1 others(3): Show HG01123.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01496.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0016	a0001c0001 a0002c0003 a0004c0005 others(1): Show a0001c0001 a0002c0003 a0004c0005 a0016c0030	a0001c0001t0001 a0002c0003t0002 a0004c0005t0002 others(1): Show a0001c0001t0001 a0002c0003t0002 a0004c0005t0002 a0016c0030t0002	a0001c0001t0001g0001 a0002c0003t0002g0012 a0002c0003t0002g0099 others(2): Show a0001c0001t0001g0001 a0002c0003t0002g0012 a0002c0003t0002g0099 a0004c0005t0002g0022 a0016c0030t0002g0103	6	290	0.0207	20	c.166 others(37): Show c.1662+336_1662+337insTCTGCTCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288511	T T	TCCCGTGT others(13): Show TCCCGTGTCCCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0001 a0018c0029t0001	a0018c0029t0001g0048 a0018c0029t0001g0048	1	290	0.0035	20	c.166 others(37): Show c.1662+476_1662+495dupCCGTGTCCCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288621	T T	TCCGTCCC others(13): Show TCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0099 a0002c0003t0002g0099	1	290	0.0035	20	c.166 others(37): Show c.1662+592_1662+611dupCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288645	T T	TCCCGTGT others(13): Show TCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0021 a0002c0003t0002g0021	1	290	0.0035	20	c.166 others(37): Show c.1662+621_1662+622insCCCGTCCCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288719	T T	TCCCATGT others(13): Show TCCCATGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	290	0.0035	20	c.166 others(37): Show c.1662+685_1662+686insATGTCTCTGCCCCGTCCCCC	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(13): Show TCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0155 a0003c0004t0003g0155	1	290	0.0035	20	c.166 others(37): Show c.1662+695_1662+696insCCCGTCCCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288755	T T	TCCCGTGT others(13): Show TCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	290	0.0035	20	c.166 others(37): Show c.1662+726_1662+727insTCTGCTCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288758	C C	CGTGTCTC others(13): Show CGTGTCTCTGCTCCATTCCCT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0013 a0013	a0013c0043 a0013c0043	a0013c0043t0001 a0013c0043t0001	a0013c0043t0001g0147 a0013c0043t0001g0147	1	290	0.0035	20	c.166 others(37): Show c.1662+726_1662+727insTCTGCTCCATTCCCTGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289029	T T	TCCGTCCC others(13): Show TCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0091 a0002c0003t0001g0091	1	290	0.0035	20	c.166 others(39): Show c.1662+1002_1662+1003insTGTCTCTGCCCCGTCCCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289066	C C	CTCCGTCC others(13): Show CTCCGTCCCCCGTGTCCCTGT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	290	0.0035	20	c.166 others(39): Show c.1662+1040_1662+1041insTGTCCCTGTTCCGTCCCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289205	T T	TCCCCCGT others(13): Show TCCCCCGTGTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	290	0.0035	20	c.166 others(39): Show c.1663-1063_1663-1062insCCGTGTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289205	T T	TCCCGTGT others(13): Show TCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	290	0.0035	20	c.166 others(39): Show c.1663-1053_1663-1052insCCCGTCCCCCGTGTCTCTGC	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(13): Show TCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	290	0.0035	20	c.166 others(39): Show c.1663-1019_1663-1000dupTCTGCTCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289272	C C	CCTGCTCC others(13): Show CCTGCTCCGTCCCCCGTGTCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0111 a0002c0003t0004g0111	1	290	0.0035	20	c.166 others(37): Show c.1663-987_1663-986insCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289299	T T	TCCCGTGT others(13): Show TCCCGTGTCCCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0044 a0002c0003t0001g0044	1	290	0.0035	20	c.166 others(37): Show c.1663-964_1663-963insCCTGCTCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289299	T T	TCCCGTGT others(13): Show TCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	290	0.0035	20	c.166 others(37): Show c.1663-959_1663-958insTCCGTCCCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289313	C C	CCCGTCCC others(13): Show CCCGTCCCCCGTGTCTCTGCT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18975.hp1 NA18954.hp2 NA18975.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0008 a0006c0015t0008	a0006c0015t0008g0276 a0006c0015t0008g0277 a0006c0015t0008g0276 a0006c0015t0008g0277	2	290	0.0069	20	c.166 others(37): Show c.1663-951_1663-950insCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289413	T T	TCCCGTGT others(13): Show TCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	290	0.0035	20	c.166 others(37): Show c.1663-836_1663-817dupCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289515	G G	GTCCCTGC others(13): Show GTCCCTGCTCCGTCCCGTGTC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	290	0.0035	20	c.166 others(37): Show c.1663-754_1663-753insCCTGCTCCGTCCCGTGTCTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289515	G G	GTCTCTGC others(13): Show GTCTCTGCTCCGTCCCGTGTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA19081.hp1 HG01433.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0198 a0001c0001t0005g0234 a0001c0001t0001g0198 a0001c0001t0005g0234	2	290	0.0069	20	c.166 others(37): Show c.1663-753_1663-752insCTGCTCCGTCCCGTGTCTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289525	T T	TCCCGTGT others(13): Show TCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0007 a0006c0010t0007	a0006c0010t0007g0275 a0006c0010t0007g0275	1	290	0.0035	20	c.166 others(37): Show c.1663-738_1663-737insTCTGCCCCGTCCCCCGTGTC	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(13): Show TCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA19079.hp2 NA18747.hp2 NA19079.hp2	a0002 a0025 a0002 a0025	a0002c0003 a0025c0041 a0002c0003 a0025c0041	a0002c0003t0002 a0025c0041t0001 a0002c0003t0002 a0025c0041t0001	a0002c0003t0002g0101 a0025c0041t0001g0261 a0002c0003t0002g0101 a0025c0041t0001g0261	2	290	0.0069	20	c.166 others(37): Show c.1663-720_1663-719insTCTGCCCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289548	T T	TGTCTCTG others(13): Show TGTCTCTGCCCCGTCCCCCGA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0220 a0003c0004t0003g0220	1	290	0.0035	20	c.166 others(37): Show c.1663-720_1663-719insTCTGCCCCGTCCCCCGAGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289561	T T	TCCCGTGT others(13): Show TCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	290	0.0035	20	c.166 others(37): Show c.1663-702_1663-701insTCTGCCCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289615	T T	TCCCGTGT others(13): Show TCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0023 a0023	a0023c0039 a0023c0039	a0023c0039t0002 a0023c0039t0002	a0023c0039t0002g0136 a0023c0039t0002g0136	1	290	0.0035	20	c.166 others(37): Show c.1663-643_1663-642insCCCGTCCCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289615	T T	TCCCGTGT others(13): Show TCCCGTGTCTCTGCTCCATTC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0013 a0013	a0013c0043 a0013c0043	a0013c0043t0001 a0013c0043t0001	a0013c0043t0001g0147 a0013c0043t0001g0147	1	290	0.0035	20	c.166 others(37): Show c.1663-640_1663-639insATTCCCCGTGTCTCTGCTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289633	T T	TCCCCCGT others(13): Show TCCCCCGTGTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0172 a0003c0004t0003g0172	1	290	0.0035	20	c.166 others(37): Show c.1663-635_1663-634insCCGTGTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289765	T T	TCCCGTGT others(13): Show TCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0072 a0007c0006t0001g0072	1	290	0.0035	20	c.166 others(37): Show c.1663-493_1663-492insCCCGTCCCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289872	T T	TCCCGTGT others(13): Show TCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	290	0.0035	20	c.166 others(37): Show c.1663-397_1663-378dupCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289908	T T	TCCCGTGT others(13): Show TCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0012 a0002c0003t0002g0012	1	290	0.0035	20	c.166 others(37): Show c.1663-349_1663-330dupCCCGTCCCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289972	G G	GTCTCTGC others(13): Show GTCTCTGCCCTGTCCCGTGTC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0220 a0003c0004t0003g0220	1	290	0.0035	20	c.166 others(37): Show c.1663-296_1663-295insCTGCCCTGTCCCGTGTCTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290032	T T	TCCGTCCC others(13): Show TCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	290	0.0035	20	c.166 others(37): Show c.1663-232_1663-231insCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290095	T T	TGTCCCTG others(13): Show TGTCCCTGCTCCGTCCCCCGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	290	0.0035	20	c.166 others(37): Show c.1663-173_1663-172insCCTGCTCCGTCCCCCGAGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290146	T T	TCCCGTGT others(13): Show TCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0111 a0002c0003t0004g0111	1	290	0.0035	20	c.166 others(37): Show c.1663-123_1663-104dupCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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