Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(11): Show ATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0365 a0001c0001t0001g0365	1	415	0.0024	18	c.226 others(37): Show c.226+13394_226+13395insATATATATATGTATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32673527	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp2 HG02897.hp1 others(5): Show HG02615.hp1 HG02895.hp2 HG02897.hp1 HG03225.hp2 NA18906.hp2 NA18968.hp1 NA19067.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0138 a0001c0001t0001g0165 a0001c0001t0001g0236 others(4): Show a0001c0001t0001g0138 a0001c0001t0001g0165 a0001c0001t0001g0236 a0001c0001t0001g0347 a0001c0001t0001g0379 a0001c0001t0002g0002 a0001c0001t0007g0031	8	415	0.0193	18	c.227 others(35): Show c.227-6220_227-6203dupGTGTGTGTGTGTGTGTGT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1D1_chr11_62185216_62198539	62196439	A A	AATTATTA others(11): Show AATTATTATTATTATTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(187): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp2 HG00738.hp1 HG01069.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01981.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02523.hp1 HG02572.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 a0001c0006t0001 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0004g0002 a0001c0005t0001g0001 a0001c0006t0001g0002 a0002c0002t0002g0009	190	424	0.4481	18	c.30 others(29): Show c.3011_*3012insATTATTATTATTATTATT	SCGB1D1	ENSG00000168515.3	transcript	ENST00000306238.3	protein_coding		2901		chr11	TogoVar
SCGB1D2_chr11_62237239_62249812	62237809	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02818.hp2 HG03139.hp1 others(4): Show HG02486.hp2 HG02818.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0004 a0002c0003t0002g0008 a0001c0001t0001g0004 a0002c0003t0002g0008	7	436	0.0161	18	c.-44 others(29): Show c.-4499_-4498insGTGTGTGTGTGTGTGTGT	SCGB1D2	ENSG00000124935.4	transcript	ENST00000244926.4	protein_coding		4429		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277883	C C	CCCCTCCC others(11): Show CCCCTCCCCCTCCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	390	0.0026	18	c.48 others(29): Show c.4888_*4889insCCCTCCCCCTCCCCCTCT	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4724		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277897	C C	CCTCTCGC others(11): Show CCTCTCGCTCTCGCTCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	390	0.0026	18	c.49 others(29): Show c.4902_*4903insCTCTCGCTCTCGCTCTCG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4738		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277909	C C	CCTCTCGC others(11): Show CCTCTCGCTCTCCCTCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	390	0.0026	18	c.49 others(29): Show c.4914_*4915insCTCTCGCTCTCCCTCTCG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4750		chr11	TogoVar
SCGB2B2_chr19_34585644_34682159	34608660	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG00733.hp1 others(43): Show HG00408.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01255.hp1 HG01255.hp2 HG01433.hp2 HG01943.hp2 HG01978.hp2 HG01993.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02717.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03669.hp1 HG04228.hp2 NA18943.hp2 NA18945.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19012.hp1 NA19072.hp2 NA19077.hp1 NA19082.hp1 NA19084.hp1 NA19089.hp2 NA19091.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0028 a0001c0001t0029 a0001c0001t0037 a0001c0001t0038 a0001c0001t0083 a0001c0001t0091 a0001c0001t0092 a0001c0001t0094 a0001c0001t0099 a0001c0001t0107 a0001c0001t0115 a0001c0001t0134 a0002c0002t0004	a0001c0001t0002g0215 a0001c0001t0002g0224 a0001c0001t0002g0226 others(42): Show a0001c0001t0002g0215 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0240 a0001c0001t0002g0250 a0001c0001t0003g0286 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0005g0032 a0001c0001t0005g0060 a0001c0001t0005g0067 a0001c0001t0006g0107 a0001c0001t0006g0154 a0001c0001t0007g0118 a0001c0001t0007g0166 a0001c0001t0009g0121 a0001c0001t0009g0127 a0001c0001t0011g0191 a0001c0001t0011g0193 a0001c0001t0013g0103 a0001c0001t0013g0104 a0001c0001t0017g0211 a0001c0001t0018g0245 a0001c0001t0018g0255 a0001c0001t0022g0007 a0001c0001t0022g0222 a0001c0001t0022g0242 a0001c0001t0028g0258 a0001c0001t0029g0219 a0001c0001t0029g0225 a0001c0001t0037g0196 a0001c0001t0038g0130 a0001c0001t0083g0112 a0001c0001t0091g0216 a0001c0001t0092g0232 a0001c0001t0094g0223 a0001c0001t0099g0208 a0001c0001t0107g0302 a0001c0001t0115g0324 a0001c0001t0134g0356 a0002c0002t0004g0114 a0002c0002t0004g0184	46	370	0.1243	18	c.-20 others(41): Show c.-2031-12084_-2031-12067dupATATATATATATATATAT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34608684	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0340 a0001c0001t0032g0340	1	370	0.0027	18	c.-20 others(41): Show c.-2031-12091_-2031-12090insGTATATATATATATATAT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34669714	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01515.hp1 HG02055.hp1 others(4): Show HG01081.hp1 HG01515.hp1 HG02055.hp1 HG03130.hp2 HG03579.hp2 NA18941.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0043 a0001c0001t0097 others(2): Show a0001c0001t0017 a0001c0001t0043 a0001c0001t0097 a0001c0001t0104 a0001c0001t0131	a0001c0001t0017g0204 a0001c0001t0017g0206 a0001c0001t0043g0305 others(4): Show a0001c0001t0017g0204 a0001c0001t0017g0206 a0001c0001t0043g0305 a0001c0001t0043g0306 a0001c0001t0097g0205 a0001c0001t0104g0269 a0001c0001t0131g0341	7	370	0.0189	18	c.-20 others(39): Show c.-2032+5915_-2032+5916insGTGTGTGTGTGTGTGTGT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCHIP1_chr3_159268244_159902359	159345546	G G	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	100	0.0100	18	c.63+ others(35): Show c.63+71670_63+71671insCTCTCTCTCTCTCTCTCT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159842997	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	100	0.0100	18	c.760 others(37): Show c.760-23163_760-23162insTTTTTTTTTTTTTTTTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIMP_chr17_5203920_5239860	5227292	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02055.hp1 others(3): Show HG01884.hp1 HG01891.hp1 HG02055.hp1 HG03041.hp2 HG03130.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0001 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0150 others(3): Show a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0150 a0001c0001t0001g0271 a0001c0001t0005g0115 a0001c0001t0008g0080	6	386	0.0155	18	c.22- others(33): Show c.22-3854_22-3837dupGTGTGTGTGTGTGTGTGT	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0224 a0008c0009t0224	a0008c0009t0224g0244 a0008c0009t0224g0244	1	372	0.0027	18	c.354 others(33): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(11): Show ATATATATATATATATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0237 a0001c0001t0237	a0001c0001t0237g0134 a0001c0001t0237g0134	1	372	0.0027	18	c.48 others(29): Show c.4858_*4859insATATATATATATATTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0207 a0001c0001t0207	a0001c0001t0207g0228 a0001c0001t0207g0228	1	372	0.0027	18	c.48 others(29): Show c.4858_*4859insATATATATATATTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(11): Show ATATATATATATGTATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0221 a0001c0001t0110g0221	1	372	0.0027	18	c.48 others(29): Show c.4858_*4859insATATATATATGTATTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0159 a0002c0003t0159	a0002c0003t0159g0251 a0002c0003t0159g0251	1	372	0.0027	18	c.48 others(29): Show c.4858_*4859insATATATATTTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLY_chr2_238056001_238104413	238065660	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00673.hp1 HG01175.hp1 others(5): Show HG00140.hp1 HG00673.hp1 HG01175.hp1 HG01261.hp2 HG01358.hp1 HG02615.hp2 NA18960.hp1 NA18980.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0009 a0001c0001 a0001c0003 a0004c0009	a0001c0001t0041 a0001c0003t0006 a0001c0003t0028 others(4): Show a0001c0001t0041 a0001c0003t0006 a0001c0003t0028 a0001c0003t0052 a0001c0003t0055 a0001c0003t0142 a0004c0009t0031	a0001c0001t0041g0068 a0001c0001t0041g0069 a0001c0003t0006g0186 others(5): Show a0001c0001t0041g0068 a0001c0001t0041g0069 a0001c0003t0006g0186 a0001c0003t0028g0176 a0001c0003t0052g0175 a0001c0003t0055g0117 a0001c0003t0142g0118 a0004c0009t0031g0155	8	392	0.0204	18	c.202 others(35): Show c.202+1206_202+1223dupATTATTATTATTATTATT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238065660	T T	TTTTTTAT others(11): Show TTTTTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG04228.hp2 HG02015.hp1 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0138 a0002c0002t0014 a0001c0003t0138 a0002c0002t0014	a0001c0003t0138g0154 a0002c0002t0014g0192 a0001c0003t0138g0154 a0002c0002t0014g0192	2	392	0.0051	18	c.202 others(35): Show c.202+1193_202+1194insTTTATTATTATTATTATT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCMH1_chr1_41022202_41247306	41087937	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00609.hp2 others(45): Show HG00423.hp1 HG00597.hp2 HG00609.hp2 HG01074.hp2 HG01123.hp1 HG01243.hp2 HG01258.hp2 HG01891.hp1 HG01928.hp1 HG01952.hp1 HG02129.hp1 HG02155.hp1 HG02257.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02738.hp1 HG02809.hp2 HG02976.hp1 HG03017.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 NA18951.hp1 NA18955.hp1 NA18956.hp2 NA18959.hp2 NA18967.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp2 NA18998.hp1 NA19003.hp2 NA19007.hp2 NA19011.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19062.hp1 NA19070.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0005 a0003c0002 others(1): Show a0001c0001 a0002c0005 a0003c0002 a0004c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0002c0005t0006 a0003c0002t0001 a0004c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 others(45): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0225 a0001c0001t0001g0233 a0001c0001t0005g0293 a0001c0001t0007g0173 a0001c0001t0007g0177 a0001c0001t0007g0179 a0001c0001t0008g0005 a0002c0005t0006g0110 a0003c0002t0001g0148 a0004c0004t0001g0047	48	304	0.1579	18	c.746 others(37): Show c.746-12504_746-12487dupACACACACACACACACAC	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	8/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41089787	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	304	0.0033	18	c.746 others(37): Show c.746-14354_746-14337dupAAAAAAAAAAAAAAAAAA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	8/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41192495	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01256.hp2 HG01258.hp1 others(1): Show HG01192.hp2 HG01256.hp2 HG01258.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0121 a0001c0001t0003g0126 others(1): Show a0001c0001t0003g0115 a0001c0001t0003g0121 a0001c0001t0003g0126 a0001c0001t0003g0135	4	304	0.0132	18	c.-11 others(37): Show c.-117-6263_-117-6246dupGTGTGTGTGTGTGTGTGT	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	1/15			chr1	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0095 a0002c0004t0009g0096 a0002c0004t0009g0095 a0002c0004t0009g0096	2	250	0.0080	18	c.-59 others(35): Show c.-59-5837_-59-5836insATATATATTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0090 a0002c0004t0003g0090	1	250	0.0040	18	c.-59 others(35): Show c.-59-5837_-59-5836insATATATATATTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA20129.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0152 a0001c0001t0006g0138 a0001c0001t0001g0152 a0001c0001t0006g0138	2	250	0.0080	18	c.-59 others(35): Show c.-59-5837_-59-5836insATATATATATATTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107804248	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0144 a0001c0003t0012g0144	1	250	0.0040	18	c.-60 others(37): Show c.-60+19877_-60+19878insACACACACACACACACAC	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38736963	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02300.hp2 HG02717.hp1 others(4): Show HG00673.hp1 HG02300.hp2 HG02717.hp1 HG03041.hp1 HG03688.hp2 NA18954.hp2 NA18984.hp1	a0001 a0001	a0001c0004 a0001c0032 a0001c0004 a0001c0032	a0001c0004t0001 a0001c0032t0001 a0001c0004t0001 a0001c0032t0001	a0001c0004t0001g0027 a0001c0004t0001g0029 a0001c0004t0001g0030 others(4): Show a0001c0004t0001g0027 a0001c0004t0001g0029 a0001c0004t0001g0030 a0001c0004t0001g0101 a0001c0004t0001g0111 a0001c0004t0001g0351 a0001c0032t0001g0370	7	372	0.0188	18	c.228 others(37): Show c.2280+2534_2280+2551dupAAAAAAAAAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38737797	C C	CTCTTCTT others(11): Show CTCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0336 a0001c0006t0002g0336	1	372	0.0027	18	c.228 others(37): Show c.2280+1717_2280+1718insAGAAAGAAAGAAAGAAGA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38737832	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01169.hp1 HG01261.hp1 others(7): Show HG00544.hp1 HG01169.hp1 HG01261.hp1 HG02129.hp1 HG03098.hp1 NA18941.hp1 NA18947.hp1 NA18965.hp2 NA19057.hp1 NA19058.hp2	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0007	a0002c0001 a0004c0005 a0004c0062 others(4): Show a0002c0001 a0004c0005 a0004c0062 a0004c0063 a0005c0009 a0005c0011 a0007c0016	a0002c0001t0001 a0004c0005t0001 a0004c0062t0001 others(4): Show a0002c0001t0001 a0004c0005t0001 a0004c0062t0001 a0004c0063t0001 a0005c0009t0002 a0005c0011t0001 a0007c0016t0001	a0002c0001t0001g0201 a0004c0005t0001g0021 a0004c0005t0001g0192 others(7): Show a0002c0001t0001g0201 a0004c0005t0001g0021 a0004c0005t0001g0192 a0004c0005t0001g0216 a0004c0005t0001g0323 a0004c0062t0001g0242 a0004c0063t0001g0314 a0005c0009t0002g0152 a0005c0011t0001g0145 a0007c0016t0001g0031	10	372	0.0269	18	c.228 others(37): Show c.2280+1682_2280+1683insAAGAAAGAAAGAAAGAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38737835	T T	TCTTTCTT others(11): Show TCTTTCTTTCTTTCTTCTC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0190 a0002c0001t0002g0190	1	372	0.0027	18	c.228 others(37): Show c.2280+1679_2280+1680insGAGAAGAAAGAAAGAAAG	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746059	A A	ATGTGTGT others(11): Show ATGTGTGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0083 a0002c0012t0001g0083	1	372	0.0027	18	c.186 others(37): Show c.1868-3531_1868-3530insCATATATATATACACACA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38907310	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA18986.hp1 HG01074.hp1 NA18986.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0211 a0003c0004t0001g0216 a0003c0004t0001g0211 a0003c0004t0001g0216	2	314	0.0064	18	c.147 others(35): Show c.1473+621_1473+638dupCACACACACACACACACA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	14/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38929131	G G	GCGCGCGC others(11): Show GCGCGCGCGCGCACACACA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0197 a0001c0024t0001g0197	1	314	0.0032	18	c.489 others(35): Show c.489-2201_489-2200insTGTGTGTGCGCGCGCGCG	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38929131	G G	GCGCGCGC others(11): Show GCGCGCGCGCGCGCACACA	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18952.hp2 NA18967.hp2 others(4): Show HG03239.hp1 NA18952.hp2 NA18967.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0185 a0001c0002t0004g0040 a0001c0002t0004g0041 others(4): Show a0001c0002t0001g0185 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0050 a0001c0002t0004g0053	7	314	0.0223	18	c.489 others(35): Show c.489-2201_489-2200insTGTGTGCGCGCGCGCGCG	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	165993180	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02155.hp2 HG02818.hp2 others(4): Show HG01884.hp2 HG02155.hp2 HG02818.hp2 HG03130.hp1 HG03516.hp2 NA18980.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 a0001c0012t0083	a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0048 others(4): Show a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0012g0003 a0001c0001t0017g0056 a0001c0012t0083g0343	7	356	0.0197	18	c.485 others(35): Show c.4853-776_4853-759dupACACACACACACACACAC	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	28/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166050613	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01069.hp2 HG01074.hp2 others(23): Show HG00609.hp1 HG01069.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01358.hp2 HG01928.hp1 HG01993.hp1 HG02818.hp2 HG02965.hp2 HG03098.hp2 HG03516.hp2 HG03710.hp2 HG04199.hp1 HG04204.hp1 NA18939.hp1 NA18941.hp2 NA18947.hp1 NA18952.hp2 NA18980.hp2 NA19001.hp2 NA19054.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0023 a0001c0001t0028 a0001c0001t0067 a0001c0001t0081 a0001c0005t0085 a0002c0002t0018 a0002c0002t0074	a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0041 others(23): Show a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0004g0257 a0001c0001t0004g0275 a0001c0001t0011g0264 a0001c0001t0012g0004 a0001c0001t0023g0252 a0001c0001t0028g0011 a0001c0001t0067g0184 a0001c0001t0081g0231 a0001c0005t0085g0037 a0002c0002t0018g0178 a0002c0002t0018g0187 a0002c0002t0074g0155	26	356	0.0730	18	c.964 others(35): Show c.964+1088_964+1105dupTATATATATATATATATA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	9/28			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165240659	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03098.hp1 HG03710.hp2 others(1): Show HG00733.hp2 HG03098.hp1 HG03710.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0001 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0011g0338 others(1): Show a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0011g0338 a0001c0001t0012g0341	4	358	0.0112	18	c.-52 others(35): Show c.-52+1038_-52+1055dupTGTGTGTGTGTGTGTGTG	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165265471	C C	CTCTATAT others(11): Show CTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	358	0.0028	18	c.-52 others(37): Show c.-52+25832_-52+25833insCTATATATATATATATAT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291575	T T	TCCTTCCT others(11): Show TCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0353 a0001c0001t0008g0353	1	358	0.0028	18	c.-51 others(35): Show c.-51-4198_-51-4197insCCTTCCTTCCTTCCTTCC	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291575	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19004.hp1 NA18962.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0018 a0001c0001t0001g0021	2	358	0.0056	18	c.-51 others(35): Show c.-51-4190_-51-4173dupCTCTCTCTCTCTCTCTCT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165303270	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19058.hp2 NA19068.hp2 others(1): Show HG00609.hp2 NA19058.hp2 NA19068.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0215 others(1): Show a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0228	4	358	0.0112	18	c.387 others(35): Show c.387-4572_387-4555dupTTTTTTTTTTTTTTTTTT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2B_chr11_118157806_118181639	118162086	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0035 a0001c0001t0010g0035	1	450	0.0022	18	c.48 others(29): Show c.4800_*4801insCTCTCTCTCTCTCTCTCT	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding		719		chr11	TogoVar
SCN3B_chr11_123624188_123659624	123625936	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	450	0.0022	18	c.78 others(29): Show c.7845_*7862dupCTCTCTCTCTCTCTCTCT	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding		3251		chr11	TogoVar
SCN3B_chr11_123624188_123659624	123625973	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01993.hp2 HG02015.hp2 others(7): Show HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02602.hp2 HG02698.hp1 HG03834.hp2 NA18939.hp1 NA18992.hp2 NA18994.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0049	a0001c0001t0001g0055 a0001c0001t0001g0126 a0001c0001t0001g0127 others(7): Show a0001c0001t0001g0055 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0002g0249 a0001c0001t0005g0002 a0001c0001t0006g0226 a0001c0001t0006g0332 a0001c0001t0007g0246 a0001c0001t0007g0300 a0001c0001t0049g0084	10	450	0.0222	18	c.78 others(29): Show c.7825_*7826insGATCTCTCTCTCTCTCTC	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding		3214		chr11	TogoVar
SCN3B_chr11_123624188_123659624	123644766	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0158 a0001c0001t0004g0158	1	450	0.0022	18	c.219 others(33): Show c.219+803_219+820dupTCTCTCTCTCTCTCTCTC	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding	3/6			chr11	TogoVar
SCN3B_chr11_123624188_123659624	123644800	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp1 HG02895.hp1 others(1): Show HG02109.hp2 HG02615.hp1 HG02895.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0344 a0001c0001t0012g0037 a0001c0001t0012g0197 a0001c0001t0004g0344 a0001c0001t0012g0037 a0001c0001t0012g0197	4	450	0.0089	18	c.219 others(33): Show c.219+786_219+787insATTCTCTCTCTCTCTCTC	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding	3/6			chr11	TogoVar
SCN4A_chr17_63933554_63977918	63943341	T T	TCCCTCCT others(11): Show TCCCTCCTCCCCGGGGACC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(200): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18985.hp2 NA18990.hp1 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19081.hp2 NA19086.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(17): Show a0001 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0016 a0017 a0018 a0020 a0022 a0024 a0026 a0027 a0029	a0001c0002 a0001c0004 a0001c0005 others(59): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0018 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0028 a0001c0035 a0001c0037 a0001c0038 a0001c0039 a0001c0041 a0001c0049 a0001c0055 a0001c0060 a0001c0064 a0001c0065 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0072 a0001c0073 a0001c0074 a0001c0075 a0004c0019 a0004c0043 a0004c0044 a0004c0045 a0004c0046 a0005c0009 a0005c0048 a0006c0008 a0008c0077 a0008c0078 a0009c0079 a0010c0034 a0011c0080 a0012c0032 a0013c0047 a0015c0050 a0016c0057 a0017c0031 a0018c0076 a0020c0063 a0022c0058 a0024c0040 a0026c0054 a0027c0036 a0029c0056	a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 others(76): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0002t0019 a0001c0002t0021 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0023 a0001c0005t0003 a0001c0006t0003 a0001c0006t0007 a0001c0006t0018 a0001c0006t0029 a0001c0010t0005 a0001c0011t0002 a0001c0011t0022 a0001c0012t0001 a0001c0013t0003 a0001c0013t0007 a0001c0014t0008 a0001c0014t0011 a0001c0017t0008 a0001c0017t0009 a0001c0017t0030 a0001c0018t0001 a0001c0021t0009 a0001c0022t0005 a0001c0023t0017 a0001c0024t0001 a0001c0025t0008 a0001c0026t0003 a0001c0028t0001 a0001c0028t0012 a0001c0035t0018 a0001c0037t0004 a0001c0038t0008 a0001c0039t0004 a0001c0041t0001 a0001c0049t0024 a0001c0055t0001 a0001c0060t0014 a0001c0064t0001 a0001c0065t0031 a0001c0067t0007 a0001c0068t0005 a0001c0069t0014 a0001c0070t0028 a0001c0071t0014 a0001c0072t0001 a0001c0073t0001 a0001c0074t0001 a0001c0075t0001 a0004c0019t0001 a0004c0019t0026 a0004c0043t0001 a0004c0044t0009 a0004c0045t0011 a0004c0046t0003 a0005c0009t0001 a0005c0048t0001 a0006c0008t0001 a0008c0077t0002 a0008c0078t0003 a0009c0079t0016 a0010c0034t0001 a0011c0080t0016 a0012c0032t0005 a0013c0047t0001 a0015c0050t0003 a0016c0057t0003 a0017c0031t0027 a0018c0076t0009 a0020c0063t0002 a0022c0058t0001 a0024c0040t0001 a0026c0054t0002 a0027c0036t0001 a0029c0056t0001	a0001c0002t0001g0001 a0001c0002t0001g0014 a0001c0002t0001g0015 others(161): Show a0001c0002t0001g0001 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0028 a0001c0002t0001g0035 a0001c0002t0001g0038 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0081 a0001c0002t0001g0090 a0001c0002t0001g0097 a0001c0002t0001g0099 a0001c0002t0001g0154 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0168 a0001c0002t0001g0178 a0001c0002t0001g0188 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0246 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0089 a0001c0002t0002g0165 a0001c0002t0002g0214 a0001c0002t0012g0016 a0001c0002t0019g0080 a0001c0002t0021g0073 a0001c0004t0001g0036 a0001c0004t0001g0061 a0001c0004t0001g0095 a0001c0004t0001g0147 a0001c0004t0001g0148 a0001c0004t0001g0244 a0001c0004t0002g0006 a0001c0004t0002g0208 a0001c0004t0010g0198 a0001c0004t0010g0204 a0001c0004t0023g0098 a0001c0005t0003g0010 a0001c0005t0003g0041 a0001c0005t0003g0118 a0001c0005t0003g0129 a0001c0005t0003g0131 a0001c0005t0003g0220 a0001c0005t0003g0221 a0001c0005t0003g0224 a0001c0006t0003g0106 a0001c0006t0003g0144 a0001c0006t0003g0145 a0001c0006t0007g0022 a0001c0006t0007g0023 a0001c0006t0018g0138 a0001c0006t0029g0226 a0001c0010t0005g0037 a0001c0010t0005g0039 a0001c0010t0005g0256 a0001c0011t0002g0046 a0001c0011t0022g0223 a0001c0012t0001g0026 a0001c0012t0001g0093 a0001c0012t0001g0094 a0001c0013t0003g0011 a0001c0013t0007g0260 a0001c0014t0008g0112 a0001c0014t0011g0110 a0001c0014t0011g0111 a0001c0014t0011g0113 a0001c0017t0008g0115 a0001c0017t0009g0216 a0001c0017t0030g0146 a0001c0018t0001g0027 a0001c0018t0001g0254 a0001c0021t0009g0107 a0001c0021t0009g0108 a0001c0022t0005g0048 a0001c0022t0005g0257 a0001c0023t0017g0218 a0001c0023t0017g0219 a0001c0024t0001g0156 a0001c0024t0001g0177 a0001c0025t0008g0259 a0001c0025t0008g0261 a0001c0026t0003g0033 a0001c0028t0001g0268 a0001c0028t0012g0266 a0001c0035t0018g0117 a0001c0037t0004g0264 a0001c0038t0008g0215 a0001c0039t0004g0135 a0001c0041t0001g0175 a0001c0049t0024g0139 a0001c0055t0001g0047 a0001c0060t0014g0128 a0001c0064t0001g0086 a0001c0065t0031g0258 a0001c0067t0007g0142 a0001c0068t0005g0141 a0001c0069t0014g0248 a0001c0070t0028g0114 a0001c0071t0014g0143 a0001c0072t0001g0272 a0001c0073t0001g0274 a0001c0074t0001g0275 a0001c0075t0001g0276 a0004c0019t0001g0053 a0004c0019t0026g0169 a0004c0043t0001g0255 a0004c0044t0009g0120 a0004c0045t0011g0130 a0004c0046t0003g0119 a0005c0009t0001g0068 a0005c0009t0001g0069 a0005c0009t0001g0078 a0005c0009t0001g0083 a0005c0009t0001g0230 a0005c0048t0001g0082 a0006c0008t0001g0005 a0006c0008t0001g0071 a0006c0008t0001g0103 a0008c0077t0002g0277 a0008c0078t0003g0279 a0009c0079t0016g0278 a0010c0034t0001g0149 a0011c0080t0016g0281 a0012c0032t0005g0045 a0013c0047t0001g0124 a0015c0050t0003g0134 a0016c0057t0003g0222 a0017c0031t0027g0044 a0018c0076t0009g0280 a0020c0063t0002g0211 a0022c0058t0001g0084 a0024c0040t0001g0213 a0026c0054t0002g0217 a0027c0036t0001g0050 a0029c0056t0001g0063	203	356	0.5702	18	c.401 others(35): Show c.4018-246_4018-245insGGTCCCCGGGGAGGAGGG	SCN4A	ENSG00000007314.12	transcript	ENST00000435607.3	protein_coding	22/23			chr17	TogoVar
SCN5A_chr3_38543062_38654687	38555105	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0311 a0001c0002t0001g0311	1	340	0.0029	18	c.454 others(35): Show c.4542+550_4542+551insAAAAAAAAAATATATATA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38555105	A A	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0012 a0002c0015t0001g0012	1	340	0.0029	18	c.454 others(35): Show c.4542+550_4542+551insAAAAAAAAAAAAAATATA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar

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