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
SCN5A_chr3_38543062_38654687	38555159	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01074.hp2 HG01109.hp2 others(18): Show HG00423.hp1 HG01074.hp2 HG01109.hp2 HG01346.hp1 HG01433.hp1 HG01891.hp1 HG02055.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02647.hp1 HG02809.hp1 HG02896.hp2 HG03831.hp1 NA18939.hp2 NA18945.hp2 NA18947.hp2 NA18992.hp1 NA19068.hp1 NA19084.hp2 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0014 a0001c0022 a0001c0031 a0002c0007 a0002c0009 a0002c0035 a0002c0065 a0003c0028 a0004c0046	a0001c0001t0004 a0001c0001t0006 a0001c0003t0004 others(12): Show a0001c0001t0004 a0001c0001t0006 a0001c0003t0004 a0001c0003t0006 a0001c0004t0001 a0001c0008t0002 a0001c0014t0004 a0001c0022t0006 a0001c0031t0004 a0002c0007t0002 a0002c0009t0007 a0002c0035t0004 a0002c0065t0002 a0003c0028t0004 a0004c0046t0002	a0001c0001t0004g0151 a0001c0001t0004g0215 a0001c0001t0004g0332 others(18): Show a0001c0001t0004g0151 a0001c0001t0004g0215 a0001c0001t0004g0332 a0001c0001t0006g0172 a0001c0003t0004g0104 a0001c0003t0004g0111 a0001c0003t0004g0112 a0001c0003t0006g0171 a0001c0004t0001g0114 a0001c0008t0002g0134 a0001c0014t0004g0288 a0001c0022t0006g0240 a0001c0022t0006g0306 a0001c0031t0004g0072 a0002c0007t0002g0129 a0002c0009t0007g0014 a0002c0009t0007g0059 a0002c0035t0004g0077 a0002c0065t0002g0130 a0003c0028t0004g0044 a0004c0046t0002g0029	21	340	0.0618	18	c.454 others(35): Show c.4542+479_4542+496dupGTGTGTGTGTGTGTGTGT	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38607461	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03471.hp2 HG01433.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0038 a0001c0004 a0001c0038	a0001c0004t0001 a0001c0038t0016 a0001c0004t0001 a0001c0038t0016	a0001c0004t0001g0081 a0001c0038t0016g0118 a0001c0004t0001g0081 a0001c0038t0016g0118	2	340	0.0059	18	c.999 others(33): Show c.999-669_999-652dupGTGTGTGTGTGTGTGTGT	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	8/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38624208	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01361.hp2 others(10): Show HG00099.hp2 HG00738.hp2 HG01361.hp2 HG02109.hp1 HG02683.hp1 HG03516.hp1 HG03654.hp2 HG03669.hp2 HG03831.hp2 NA18950.hp2 NA19064.hp2 NA19070.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0020 others(4): Show a0001c0001 a0001c0002 a0001c0020 a0001c0043 a0001c0044 a0002c0005 a0002c0007	a0001c0001t0003 a0001c0001t0004 a0001c0001t0027 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0027 a0001c0002t0001 a0001c0020t0001 a0001c0043t0004 a0001c0044t0001 a0002c0005t0001 a0002c0007t0003	a0001c0001t0003g0178 a0001c0001t0004g0144 a0001c0001t0004g0176 others(10): Show a0001c0001t0003g0178 a0001c0001t0004g0144 a0001c0001t0004g0176 a0001c0001t0027g0193 a0001c0002t0001g0181 a0001c0002t0001g0184 a0001c0020t0001g0192 a0001c0020t0001g0194 a0001c0043t0004g0189 a0001c0044t0001g0177 a0002c0005t0001g0143 a0002c0005t0001g0191 a0002c0007t0003g0190	13	340	0.0382	18	c.393 others(35): Show c.393-1737_393-1720dupGTGTGTGTGTGTGTGTGT	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	3/27			chr3	TogoVar
SCN7A_chr2_166398573_166499249	166413981	G G	GTATATAT others(11): Show GTATATATATATATAAATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0009 a0001c0010t0009	a0001c0010t0009g0062 a0001c0010t0009g0062	1	394	0.0025	18	c.341 others(35): Show c.3415-861_3415-860insTATTTATATATATATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166413981	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00733.hp1 others(32): Show HG00280.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG01169.hp2 HG01361.hp2 HG01433.hp1 HG01928.hp1 HG01934.hp2 HG02155.hp2 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02738.hp1 HG02818.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03491.hp2 HG03492.hp2 HG03942.hp1 NA18906.hp1 NA18946.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18971.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp2 NA19065.hp1 NA19068.hp1 NA19240.hp2 NA21309.hp1	a0001 a0003 a0008 others(5): Show a0001 a0003 a0008 a0009 a0010 a0014 a0016 a0023	a0001c0001 a0001c0010 a0001c0012 others(7): Show a0001c0001 a0001c0010 a0001c0012 a0003c0003 a0008c0008 a0009c0011 a0010c0013 a0014c0016 a0016c0018 a0023c0035	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0010t0009 a0001c0012t0001 a0001c0012t0011 a0003c0003t0001 a0008c0008t0001 a0009c0011t0001 a0010c0013t0008 a0014c0016t0036 a0016c0018t0001 a0023c0035t0001	a0001c0001t0001g0056 a0001c0001t0001g0088 a0001c0001t0001g0097 others(31): Show a0001c0001t0001g0056 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0223 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0324 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0362 a0001c0001t0003g0347 a0001c0001t0003g0356 a0001c0001t0008g0374 a0001c0001t0008g0375 a0001c0001t0008g0376 a0001c0001t0015g0364 a0001c0001t0016g0359 a0001c0001t0016g0360 a0001c0001t0020g0369 a0001c0010t0009g0059 a0001c0010t0009g0060 a0001c0010t0009g0063 a0001c0012t0001g0357 a0001c0012t0011g0092 a0001c0012t0011g0316 a0001c0012t0011g0317 a0003c0003t0001g0135 a0008c0008t0001g0007 a0009c0011t0001g0101 a0010c0013t0008g0020 a0014c0016t0036g0366 a0016c0018t0001g0108 a0023c0035t0001g0136	35	394	0.0888	18	c.341 others(35): Show c.3415-878_3415-861dupTATATATATATATATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166413981	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	394	0.0025	18	c.341 others(35): Show c.3415-861_3415-860insTATATATATATATATACA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166414000	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	394	0.0025	18	c.341 others(35): Show c.3415-880_3415-879insTTATATATATATATATAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166439055	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0220 a0001c0001t0033g0220	1	394	0.0025	18	c.215 others(37): Show c.2157+2323_2157+2340dupTATATATATATATATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	15/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166439055	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02080.hp2 HG02970.hp2 others(4): Show HG01928.hp2 HG02080.hp2 HG02970.hp2 HG03540.hp1 HG03834.hp2 NA18993.hp1 NA19087.hp2	a0001 a0007 a0029 a0001 a0007 a0029	a0001c0001 a0001c0009 a0007c0007 others(1): Show a0001c0001 a0001c0009 a0007c0007 a0029c0026	a0001c0001t0001 a0001c0001t0002 a0001c0009t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0002 a0007c0007t0002 a0029c0026t0002	a0001c0001t0001g0077 a0001c0001t0001g0233 a0001c0001t0002g0260 others(4): Show a0001c0001t0001g0077 a0001c0001t0001g0233 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0009t0002g0075 a0007c0007t0002g0243 a0029c0026t0002g0251	7	394	0.0178	18	c.215 others(37): Show c.2157+2340_2157+2341insTATATATATATATACACA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	15/25			chr2	TogoVar
SCN8A_chr12_51586233_51817864	51761454	T T	TTTATTTA others(11): Show TTTATTTATTTATTTATTA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0131 a0001c0001t0005g0131	1	202	0.0050	18	c.237 others(37): Show c.2371-1036_2371-1035insTATTATTATTTATTTATT	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166199975	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	296	0.0034	18	c.477 others(35): Show c.4775-129_4775-112dupAAAAAAAAAAAAAAAAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166228247	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0275 a0001c0003t0006g0275	1	296	0.0034	18	c.420 others(35): Show c.4206+426_4206+443dupAAAAAAAAAAAAAAAAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	22/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166288120	T T	TATATATA others(11): Show TATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18971.hp1 NA18979.hp1 others(2): Show HG03579.hp1 NA18971.hp1 NA18979.hp1 NA18983.hp1 NA19066.hp2	a0001 a0024 a0001 a0024	a0001c0005 a0024c0046 a0001c0005 a0024c0046	a0001c0005t0001 a0001c0005t0002 a0024c0046t0018 a0001c0005t0001 a0001c0005t0002 a0024c0046t0018	a0001c0005t0001g0070 a0001c0005t0001g0108 a0001c0005t0002g0144 others(2): Show a0001c0005t0001g0070 a0001c0005t0001g0108 a0001c0005t0002g0144 a0001c0005t0002g0152 a0024c0046t0018g0019	5	296	0.0169	18	c.131 others(35): Show c.1314+316_1314+317insGTGTGTGTATATATATAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	10/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166297196	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA20752.hp1 HG01175.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0066 a0001c0002 a0002c0066	a0001c0002t0001 a0002c0066t0023 a0001c0002t0001 a0002c0066t0023	a0001c0002t0001g0100 a0002c0066t0023g0012 a0001c0002t0001g0100 a0002c0066t0023g0012	2	296	0.0068	18	c.902 others(35): Show c.902-2552_902-2535dupTTTTTTTTTTTTTTTTTT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	7/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166311329	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18993.hp2 HG01943.hp1 NA18993.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0027 a0001c0001 a0005c0027	a0001c0001t0002 a0005c0027t0003 a0001c0001t0002 a0005c0027t0003	a0001c0001t0002g0038 a0005c0027t0003g0121 a0001c0001t0002g0038 a0005c0027t0003g0121	2	296	0.0068	18	c.258 others(33): Show c.258+169_258+170insATATATATATATATATAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	2/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166311330	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0010 a0010	a0010c0062 a0010c0062	a0010c0062t0003 a0010c0062t0003	a0010c0062t0003g0061 a0010c0062t0003g0061	1	296	0.0034	18	c.258 others(33): Show c.258+151_258+168dupTATATATATATATATATA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	2/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166370220	A A	AATCATCA others(11): Show AATCATCATCATCATCATC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG02258.hp2 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0020 a0001c0003 a0002c0020	a0001c0003t0006 a0002c0020t0007 a0001c0003t0006 a0002c0020t0007	a0001c0003t0006g0274 a0002c0020t0007g0257 a0001c0003t0006g0274 a0002c0020t0007g0257	2	296	0.0068	18	c.-51 others(35): Show c.-51+5476_-51+5477insGATGATGATGATGATGAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166370223	A A	AATCATCA others(11): Show AATCATCATCATCATCATC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp1 HG02970.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0020 a0001c0003 a0002c0020	a0001c0003t0006 a0002c0020t0007 a0001c0003t0006 a0002c0020t0007	a0001c0003t0006g0275 a0002c0020t0007g0287 a0001c0003t0006g0275 a0002c0020t0007g0287	2	296	0.0068	18	c.-51 others(35): Show c.-51+5473_-51+5474insGATGATGATGATGATGAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166370235	A A	AATCATCA others(11): Show AATCATCATCATCATCATC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01258.hp1 HG03017.hp1 others(4): Show HG01167.hp1 HG01258.hp1 HG03017.hp1 HG03490.hp1 HG03710.hp2 HG03927.hp2 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0009 others(1): Show a0001c0002 a0001c0003 a0002c0009 a0003c0033	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0002c0009t0004 a0003c0033t0003	a0001c0002t0001g0237 a0001c0002t0002g0227 a0001c0003t0001g0238 others(4): Show a0001c0002t0001g0237 a0001c0002t0002g0227 a0001c0003t0001g0238 a0001c0003t0002g0243 a0002c0009t0004g0228 a0002c0009t0004g0229 a0003c0033t0003g0230	7	296	0.0237	18	c.-51 others(35): Show c.-51+5461_-51+5462insGATGATGATGATGATGAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23300993	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0004 a0003c0005t0001g0004	1	306	0.0033	18	c.-14 others(29): Show c.-1453_-1452insGTGTGTGTGTGTGTGTGT	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding		1308		chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23325922	T T	TAAATAAA others(11): Show TAAATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	306	0.0033	18	c.-8- others(35): Show c.-8-22669_-8-22668insAATAAATAAATAAATAAA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1283470	G G	GGGCGGAT others(11): Show GGGCGGATCACCTGAGGTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	290	0.0035	18	c.352 others(33): Show c.352-505_352-488dupCGGATCACCTGAGGTTGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284203	G G	GGGGTTGG others(11): Show GGGGTTGGGTGAGGGGGTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0001 a0001c0047t0001	a0001c0047t0001g0183 a0001c0047t0001g0183	1	290	0.0035	18	c.464 others(33): Show c.464+116_464+117insTTGGGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1287406	G G	GAGGAACT others(11): Show GAGGAACTTTCCGCAGACA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	290	0.0035	18	c.131 others(34): Show c.1311-101_1311-84dupAGGAACTTTCCGCAGACA	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288210	T T	TCTGCTCC others(11): Show TCTGCTCCGTCCCGTGTCC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	290	0.0035	18	c.166 others(35): Show c.1662+190_1662+191insCCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288228	T T	TCTGCTCC others(11): Show TCTGCTCCGTCCCGTGTCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03491.hp2 HG00099.hp2 HG03491.hp2	a0001 a0002 a0001 a0002	a0001c0047 a0002c0003 a0001c0047 a0002c0003	a0001c0047t0001 a0002c0003t0002 a0001c0047t0001 a0002c0003t0002	a0001c0047t0001g0183 a0002c0003t0002g0015 a0001c0047t0001g0183 a0002c0003t0002g0015	2	290	0.0069	18	c.166 others(35): Show c.1662+208_1662+209insCCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288233	T T	TCCGTCCC others(11): Show TCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0064 a0002c0003t0002g0064	1	290	0.0035	18	c.166 others(35): Show c.1662+213_1662+214insCCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288361	T T	TCCGTCCC others(11): Show TCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01934.hp1 NA18967.hp1 HG00741.hp1 HG01934.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0217 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0217	3	290	0.0103	18	c.166 others(35): Show c.1662+336_1662+337insTCTGCCCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288401	T T	TCCCGTGT others(11): Show TCCCGTGTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	290	0.0035	18	c.166 others(35): Show c.1662+372_1662+373insTGCTCCGTCCCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288410	C C	CCTGCTCC others(11): Show CCTGCTCCGTCCCGTGTCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	290	0.0035	18	c.166 others(35): Show c.1662+390_1662+391insTCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288451	T T	TCCGTCCC others(11): Show TCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	290	0.0035	18	c.166 others(35): Show c.1662+421_1662+422insGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288457	C C	CCCCGTGT others(11): Show CCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0026 a0002c0003t0001g0026	1	290	0.0035	18	c.166 others(35): Show c.1662+452_1662+469dupTCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288471	T T	TCCGTCCC others(11): Show TCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0072 a0007c0006t0001g0072	1	290	0.0035	18	c.166 others(35): Show c.1662+451_1662+452insCCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288525	T T	TCCGTCCC others(11): Show TCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	290	0.0035	18	c.166 others(35): Show c.1662+505_1662+506insCCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288563	T T	TCCGTCCC others(11): Show TCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0028 a0004c0005t0002g0028	1	290	0.0035	18	c.166 others(35): Show c.1662+533_1662+534insGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288607	C C	CCCCGTGT others(11): Show CCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0003 a0010c0019t0003	a0010c0019t0003g0170 a0010c0019t0003g0170	1	290	0.0035	18	c.166 others(35): Show c.1662+583_1662+584insCCCGTCCCGTGTCTCTGC	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(11): Show TCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18995.hp2 HG00558.hp1 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0163 a0002c0002t0001g0068 a0001c0001t0002g0163 a0002c0002t0001g0068	2	290	0.0069	18	c.166 others(35): Show c.1662+591_1662+592insGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288627	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(35): Show c.1662+603_1662+604insTCCGTCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288636	T T	TCTGCCCC others(11): Show TCTGCCCCGTCCCGTGTCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	290	0.0035	18	c.166 others(35): Show c.1662+616_1662+617insCCTGCCCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288666	C C	CGTGTCTG others(11): Show CGTGTCTGCTCCATTCCCT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0171 a0003c0004t0003g0171	1	290	0.0035	18	c.166 others(35): Show c.1662+635_1662+636insGCTCCATTCCCTGTGTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288671	C C	CTCTGCTC others(11): Show CTCTGCTCCGTCCCCCGTG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	290	0.0035	18	c.166 others(35): Show c.1662+647_1662+648insCCGTGTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288787	T T	TCCGTCCC others(11): Show TCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	290	0.0035	18	c.166 others(35): Show c.1662+757_1662+758insGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288793	C C	CCCCGTGT others(11): Show CCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0032 a0002c0003t0002g0032	1	290	0.0035	18	c.166 others(35): Show c.1662+764_1662+765insTCTGCCCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288793	C C	CCCCGTGT others(11): Show CCCCGTGTCTCTGCTCCGT	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(35): Show c.1662+764_1662+765insTCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288798	T T	TGTCTCTG others(11): Show TGTCTCTGCCCCGTCCCGA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0154 a0003c0004t0003g0154	1	290	0.0035	18	c.166 others(35): Show c.1662+764_1662+765insTCTGCCCCGTCCCGAGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288813	C C	CCCCGTGT others(11): Show CCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0028 a0004c0005t0002g0028	1	290	0.0035	18	c.166 others(35): Show c.1662+780_1662+781insTGTCCCTGCTCCGTCCCG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288876	T T	TCTGCTCC others(11): Show TCTGCTCCGTCCCGTGTCC	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(35): Show c.1662+857_1662+874dupCCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288923	C C	CCCCGTGT others(11): Show CCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG06807.hp2 HG01928.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0245 a0002c0003t0002g0104 a0001c0001t0001g0245 a0002c0003t0002g0104	2	290	0.0069	18	c.166 others(35): Show c.1662+894_1662+895insTCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289005	C C	CTCTGCTC others(11): Show CTCTGCTCCGTCCCCCGTG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	290	0.0035	18	c.166 others(35): Show c.1662+981_1662+982insCCGTGTCTGCTCCGTCCC	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(11): Show TCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0155 a0003c0004t0003g0155	1	290	0.0035	18	c.166 others(36): Show c.1662+999_1662+1000insGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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