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
SCFD2_chr4_52867982_53371061	52960715	CACACACA others(6): Show CACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19240.hp1 HG02630.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0142 a0001c0003t0003g0062 a0001c0001t0001g0142 a0001c0003t0003g0062	2	162	0.0124	-13	c.156 others(34): Show c.1562-39858_1562-39846delTGTGTGTGTGTGT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53254793	GTTTATTT others(6): Show GTTTATTTTATTTT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0068 a0001c0003t0003g0068	1	162	0.0062	-13	c.131 others(34): Show c.1311+19020_1311+19032delAAAATAAAATAAA	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCG2_chr2_223591940_223607361	223603728	GCCAATGG others(6): Show GCCAATGGGTTCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	394	0.0025	-13	c.-14 others(24): Show c.-1471_-1459delTTGAACCCATTGG	SCG2	ENSG00000171951.5	transcript	ENST00000305409.3	protein_coding		1368		chr2	TogoVar
SCG3_chr15_51676503_51726026	51709688	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	402	0.0025	-13	c.120 others(32): Show c.1208-3644_1208-3632delATATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11			chr15	TogoVar
SCG3_chr15_51676503_51726026	51709691	ATATATAT others(6): Show ATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG06807.hp2 HG02965.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0207 a0002c0003t0003g0371 a0001c0001t0001g0207 a0002c0003t0003g0371	2	402	0.0050	-13	c.120 others(32): Show c.1208-3640_1208-3628delATATATATATTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51709693	ATATATAT others(6): Show ATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03139.hp2 HG02886.hp1 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0003 a0001c0001t0002 a0002c0003t0003	a0001c0001t0002g0209 a0002c0003t0003g0303 a0001c0001t0002g0209 a0002c0003t0003g0303	2	402	0.0050	-13	c.120 others(32): Show c.1208-3638_1208-3626delATATATATTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51709695	ATATATAT others(6): Show ATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03927.hp2 HG02155.hp2 HG03927.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0160 a0003c0004t0001g0022 a0001c0001t0001g0160 a0003c0004t0001g0022	2	402	0.0050	-13	c.120 others(32): Show c.1208-3636_1208-3624delATATATTTTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51709697	ATATATTT others(6): Show ATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG02895.hp2 HG02630.hp1 HG02723.hp1 HG02895.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0003 a0002c0003t0001 a0002c0003t0003	a0002c0003t0001g0363 a0002c0003t0003g0365 a0002c0003t0003g0366 a0002c0003t0001g0363 a0002c0003t0003g0365 a0002c0003t0003g0366	3	402	0.0075	-13	c.120 others(32): Show c.1208-3634_1208-3622delATATTTTTTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C2_chr17_132569_144067	141383	GGGGACCT others(6): Show GGGGACCTTGGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 NA18974.hp2 HG03927.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	402	0.0050	-13	c.24 others(24): Show c.2442_*2454delGGGACCTTGGTGA	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2317		chr17	TogoVar
SCGB1C2_chr17_132569_144067	141484	CTGGTGAG others(6): Show CTGGTGAGGGGACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(196): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19081.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0004c0004 a0005c0007 others(1): Show a0001c0001 a0004c0004 a0005c0007 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0004c0004t0001 a0005c0007t0001 a0006c0006t0002	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0026 a0001c0001t0003g0005 a0004c0004t0001g0015 a0005c0007t0001g0002 a0006c0006t0002g0004	199	402	0.4950	-13	c.25 others(24): Show c.2543_*2555delTGGTGAGGGGACA	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2418		chr17	TogoVar
SCGB2B2_chr19_34585644_34682159	34612018	AATTCTTT others(6): Show AATTCTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0125 a0001c0001t0125	a0001c0001t0125g0336 a0001c0001t0125g0336	1	370	0.0027	-13	c.-20 others(36): Show c.-2031-15437_-2031-15425delAAAAAAAAAGAAT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34612022	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00558.hp2 others(111): Show HG00140.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp2 NA18944.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18993.hp2 NA19000.hp1 NA19001.hp2 NA19004.hp2 NA19030.hp1 NA19064.hp1 NA19065.hp2 NA19072.hp2 NA19077.hp2 NA19078.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0002 a0005c0004 others(1): Show a0001c0001 a0002c0002 a0005c0004 a0006c0003	a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 others(38): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0033 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0050 a0001c0001t0066 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0002c0002t0004 a0005c0004t0078 a0006c0003t0020	a0001c0001t0006g0094 a0001c0001t0006g0107 a0001c0001t0006g0141 others(109): Show a0001c0001t0006g0094 a0001c0001t0006g0107 a0001c0001t0006g0141 a0001c0001t0006g0152 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0163 a0001c0001t0006g0165 a0001c0001t0006g0171 a0001c0001t0007g0118 a0001c0001t0007g0122 a0001c0001t0007g0125 a0001c0001t0007g0126 a0001c0001t0007g0134 a0001c0001t0007g0144 a0001c0001t0007g0164 a0001c0001t0007g0166 a0001c0001t0007g0167 a0001c0001t0007g0188 a0001c0001t0008g0095 a0001c0001t0008g0098 a0001c0001t0008g0099 a0001c0001t0008g0111 a0001c0001t0008g0132 a0001c0001t0008g0135 a0001c0001t0008g0140 a0001c0001t0008g0161 a0001c0001t0009g0124 a0001c0001t0009g0192 a0001c0001t0009g0201 a0001c0001t0009g0202 a0001c0001t0011g0108 a0001c0001t0011g0120 a0001c0001t0011g0177 a0001c0001t0011g0191 a0001c0001t0011g0193 a0001c0001t0012g0119 a0001c0001t0012g0143 a0001c0001t0012g0157 a0001c0001t0012g0198 a0001c0001t0013g0102 a0001c0001t0013g0103 a0001c0001t0013g0104 a0001c0001t0013g0106 a0001c0001t0013g0115 a0001c0001t0013g0116 a0001c0001t0015g0158 a0001c0001t0015g0170 a0001c0001t0015g0175 a0001c0001t0015g0182 a0001c0001t0015g0195 a0001c0001t0016g0097 a0001c0001t0016g0110 a0001c0001t0016g0113 a0001c0001t0016g0123 a0001c0001t0016g0142 a0001c0001t0017g0204 a0001c0001t0017g0206 a0001c0001t0017g0263 a0001c0001t0020g0149 a0001c0001t0020g0151 a0001c0001t0020g0172 a0001c0001t0021g0138 a0001c0001t0021g0148 a0001c0001t0021g0162 a0001c0001t0021g0178 a0001c0001t0026g0147 a0001c0001t0026g0197 a0001c0001t0027g0100 a0001c0001t0027g0101 a0001c0001t0027g0105 a0001c0001t0033g0357 a0001c0001t0033g0358 a0001c0001t0033g0359 a0001c0001t0037g0168 a0001c0001t0037g0196 a0001c0001t0038g0146 a0001c0001t0041g0299 a0001c0001t0050g0347 a0001c0001t0066g0082 a0001c0001t0071g0096 a0001c0001t0072g0092 a0001c0001t0073g0136 a0001c0001t0074g0199 a0001c0001t0075g0137 a0001c0001t0080g0117 a0001c0001t0081g0169 a0001c0001t0082g0179 a0001c0001t0083g0112 a0001c0001t0084g0139 a0001c0001t0086g0180 a0001c0001t0087g0150 a0001c0001t0088g0187 a0001c0001t0089g0174 a0001c0001t0095g0207 a0001c0001t0096g0203 a0001c0001t0097g0205 a0001c0001t0098g0264 a0002c0002t0004g0005 a0002c0002t0004g0006 a0002c0002t0004g0114 a0002c0002t0004g0156 a0002c0002t0004g0159 a0002c0002t0004g0160 a0002c0002t0004g0173 a0002c0002t0004g0183 a0002c0002t0004g0184 a0002c0002t0004g0185 a0002c0002t0004g0186 a0002c0002t0004g0190 a0005c0004t0078g0109 a0006c0003t0020g0181	114	370	0.3081	-13	c.-20 others(36): Show c.-2031-15441_-2031-15429delAAAAAAAAAAAAA	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGN_chr6_25647215_25706783	25658003	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG01123.hp2 others(36): Show HG00280.hp2 HG00408.hp2 HG01123.hp2 HG01175.hp2 HG01257.hp1 HG02109.hp2 HG02135.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02615.hp1 HG02630.hp2 HG02738.hp2 HG02818.hp2 HG02895.hp2 HG03041.hp2 HG03491.hp1 HG03579.hp2 HG04228.hp2 NA18612.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp2 NA18965.hp1 NA18978.hp1 NA18982.hp2 NA18983.hp1 NA19009.hp2 NA19010.hp2 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19083.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0004t0001 a0002c0002t0003 a0003c0003t0003	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0064 others(32): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0064 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0232 a0001c0001t0002g0010 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0104 a0001c0001t0002g0226 a0001c0001t0003g0099 a0001c0001t0003g0111 a0001c0001t0008g0057 a0001c0004t0001g0103 a0002c0002t0003g0009 a0002c0002t0003g0094 a0003c0003t0003g0330	39	368	0.1060	-13	c.154 others(30): Show c.154-3507_154-3495delTTTTTTTTTTTTT	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCHIP1_chr3_159268244_159902359	159680522	TATATATG others(6): Show TATATATGTATATA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02055.hp2 others(3): Show HG01167.hp2 HG01169.hp2 HG02055.hp2 HG02922.hp1 HG03471.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0072 a0001c0001t0001g0097 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0072 a0001c0001t0001g0097 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030	6	100	0.0600	-13	c.64- others(30): Show c.64-83907_64-83895delATATATGTATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159843001	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01106.hp1 HG02055.hp2 others(10): Show HG00438.hp2 HG01106.hp1 HG02055.hp2 HG02451.hp1 HG02630.hp2 HG02698.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03471.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0045 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0004g0059	13	100	0.1300	-13	c.760 others(32): Show c.760-23146_760-23134delTTTTTTTTTTTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIMP_chr17_5203920_5239860	5229384	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	386	0.0026	-13	c.21+ others(28): Show c.21+5338_21+5350delAAAAAAAAAAAAA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIN_chr7_12565720_12665182	12657560	ATATATAT others(6): Show ATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 NA18522.hp1 HG02280.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0177 a0001c0001t0189 a0001c0001t0177 a0001c0001t0189	a0001c0001t0177g0200 a0001c0001t0189g0201 a0001c0001t0177g0200 a0001c0001t0189g0201	2	372	0.0054	-13	c.48 others(24): Show c.4847_*4859delATATATATATATT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4847	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLY_chr2_238056001_238104413	238096713	CAGCCTGC others(6): Show CAGCCTGCGCCCAG	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0072 a0002c0002t0072	a0002c0002t0072g0187 a0002c0002t0072g0187	1	392	0.0026	-13	c.110 others(28): Show c.1109-87_1109-75delAGCCTGCGCCCAG	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	10/11			chr2	TogoVar
SCMH1_chr1_41022202_41247306	41089787	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02622.hp2 others(2): Show HG02258.hp2 HG02572.hp2 HG02622.hp2 HG03453.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0300 a0001c0001t0006g0301 a0001c0001t0006g0302 others(2): Show a0001c0001t0006g0300 a0001c0001t0006g0301 a0001c0001t0006g0302 a0001c0001t0006g0303 a0001c0001t0006g0304	5	304	0.0165	-13	c.746 others(32): Show c.746-14349_746-14337delAAAAAAAAAAAAA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	8/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41195131	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0271 a0001c0001t0004g0271	1	304	0.0033	-13	c.-11 others(32): Show c.-117-8894_-117-8882delTTTTTTTTTTTTT	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	1/15			chr1	TogoVar
SCML2_chrX_18234313_18359688	18251309	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG04204.hp1 HG02738.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0164 a0001c0002t0001g0029 a0001c0001t0001g0164 a0001c0002t0001g0029	2	247	0.0081	-13	c.145 others(32): Show c.1457-3440_1457-3428delTTTTTTTTTTTTT	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	11/14			chrX	TogoVar
SCML4_chr6_107697154_107829313	107778223	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03195.hp2 NA18906.hp1 others(1): Show HG02622.hp2 HG03195.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0012 a0001c0001t0001 a0001c0003t0012	a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 others(1): Show a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0003t0012g0144	4	250	0.0160	-13	c.-59 others(30): Show c.-59-5850_-59-5838delATATATATATATA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107826266	AAAAAGAA others(6): Show AAAAAGAAAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02055.hp1 HG02922.hp1 others(6): Show HG00544.hp1 HG02055.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG06807.hp2 NA18957.hp2 NA18973.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0002t0009 a0001c0002t0010 a0001c0005t0011 a0001c0005t0030	a0001c0001t0001g0010 a0001c0001t0003g0080 a0001c0001t0013g0011 others(6): Show a0001c0001t0001g0010 a0001c0001t0003g0080 a0001c0001t0013g0011 a0001c0001t0014g0009 a0001c0001t0019g0075 a0001c0002t0009g0078 a0001c0002t0010g0008 a0001c0005t0011g0081 a0001c0005t0030g0079	9	250	0.0360	-13	c.-22 others(24): Show c.-2213_-2201delCTTCTTTTCTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding		1954		chr6	TogoVar
SCN10A_chr3_38691807_38821217	38719367	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02615.hp2 HG02723.hp1 others(5): Show HG01099.hp2 HG02615.hp2 HG02723.hp1 HG02809.hp2 HG02970.hp1 NA18986.hp1 NA18993.hp1 NA19058.hp1	a0002 a0002	a0002c0001 a0002c0012 a0002c0039 a0002c0001 a0002c0012 a0002c0039	a0002c0001t0001 a0002c0001t0002 a0002c0012t0001 others(1): Show a0002c0001t0001 a0002c0001t0002 a0002c0012t0001 a0002c0039t0001	a0002c0001t0001g0179 a0002c0001t0001g0184 a0002c0001t0001g0241 others(5): Show a0002c0001t0001g0179 a0002c0001t0001g0184 a0002c0001t0001g0241 a0002c0001t0002g0205 a0002c0012t0001g0083 a0002c0012t0001g0084 a0002c0012t0001g0127 a0002c0039t0001g0143	8	372	0.0215	-13	c.350 others(30): Show c.3508-554_3508-542delAAAAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	20/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38734844	GTAAAAAG others(6): Show GTAAAAAGAACCTA	G G	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0239 a0002c0001t0001g0239	1	372	0.0027	-13	c.228 others(32): Show c.2280+4658_2280+4670delTAGGTTCTTTTTA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938540	ATATATAT others(6): Show ATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0307 a0001c0006t0006g0307	1	314	0.0032	-13	c.488 others(30): Show c.488+6858_488+6870delAAATATATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938542	ATATATAT others(6): Show ATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	314	0.0032	-13	c.488 others(30): Show c.488+6856_488+6868delAAAAATATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938544	ATATATAT others(6): Show ATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18959.hp1 NA18963.hp2 others(3): Show HG03486.hp2 NA18959.hp1 NA18963.hp2 NA19062.hp2 NA19068.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0002t0001 a0002c0003t0001 a0001c0001t0003 a0001c0002t0001 a0002c0003t0001	a0001c0001t0003g0265 a0001c0002t0001g0167 a0002c0003t0001g0019 others(3): Show a0001c0001t0003g0265 a0001c0002t0001g0167 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0022	6	314	0.0191	-13	c.488 others(30): Show c.488+6854_488+6866delAAAAAAATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938546	ATATATTT others(6): Show ATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00140.hp2 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0138 a0001c0001t0002g0130 a0001c0001t0002g0138	2	314	0.0064	-13	c.488 others(30): Show c.488+6852_488+6864delAAAAAAAAATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938550	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG02895.hp1 HG02896.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0260 a0001c0012t0001g0261 a0001c0012t0001g0260 a0001c0012t0001g0261	2	314	0.0064	-13	c.488 others(30): Show c.488+6848_488+6860delAAAAAAAAAAAAA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	39033290	TTATTTAC others(6): Show TTATTTACTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01891.hp2 HG01978.hp1 others(31): Show HG00408.hp1 HG01891.hp2 HG01978.hp1 HG02071.hp1 HG02083.hp1 HG02145.hp2 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02683.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03195.hp1 HG03471.hp2 HG03516.hp1 NA18940.hp2 NA18950.hp1 NA18959.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp1 NA18980.hp2 NA18995.hp2 NA18998.hp1 NA19054.hp2 NA19062.hp2 NA19068.hp1 NA19070.hp1 NA19080.hp1 NA19083.hp1 NA19088.hp2 NA20129.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0003 a0011c0019 a0001c0001 a0002c0003 a0011c0019	a0001c0001t0002 a0002c0003t0001 a0002c0003t0008 others(1): Show a0001c0001t0002 a0002c0003t0001 a0002c0003t0008 a0011c0019t0002	a0001c0001t0002g0004 a0001c0001t0002g0017 a0002c0003t0001g0007 others(31): Show a0001c0001t0002g0004 a0001c0001t0002g0017 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0010 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0014 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0008g0005 a0002c0003t0008g0006 a0002c0003t0008g0024 a0011c0019t0002g0025	34	314	0.1083	-13	c.-40 others(30): Show c.-403-800_-403-788delTAAAAAGTAAATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	1/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	39042967	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	314	0.0032	-13	c.-40 others(32): Show c.-404+8881_-404+8893delCTTTTTTTTTTTT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	1/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166039910	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(65): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00673.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01884.hp2 HG01928.hp1 HG01978.hp1 HG01993.hp1 HG02055.hp2 HG02074.hp1 HG02135.hp1 HG02155.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02683.hp2 HG02738.hp1 HG02818.hp2 HG02897.hp1 HG03098.hp2 HG03195.hp2 HG03516.hp2 HG03688.hp1 HG03710.hp1 HG04199.hp1 HG04204.hp1 NA18941.hp2 NA18947.hp1 NA18952.hp2 NA18974.hp2 NA18980.hp2 NA18981.hp2 NA18988.hp1 NA18990.hp2 NA18993.hp1 NA19001.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19054.hp1 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19078.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 others(13): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 a0001c0001t0023 a0001c0001t0028 a0001c0001t0035 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0081 a0001c0023t0023	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 others(65): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0171 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0224 a0001c0001t0001g0263 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0012g0003 a0001c0001t0012g0004 a0001c0001t0012g0006 a0001c0001t0012g0009 a0001c0001t0012g0010 a0001c0001t0012g0012 a0001c0001t0017g0018 a0001c0001t0017g0028 a0001c0001t0017g0056 a0001c0001t0017g0322 a0001c0001t0023g0146 a0001c0001t0023g0252 a0001c0001t0028g0008 a0001c0001t0028g0011 a0001c0001t0035g0082 a0001c0001t0047g0007 a0001c0001t0048g0005 a0001c0001t0050g0249 a0001c0001t0063g0051 a0001c0001t0064g0106 a0001c0001t0065g0066 a0001c0001t0066g0203 a0001c0001t0067g0184 a0001c0001t0081g0231 a0001c0023t0023g0176	68	356	0.1910	-13	c.241 others(30): Show c.2416-327_2416-315delAAAAAAAAAAAAA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	16/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166090029	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0293 a0001c0001t0024g0293	1	356	0.0028	-13	c.-14 others(34): Show c.-141-12241_-141-12229delAAAAAAAAAAAAA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCN1B_chr19_35025470_35045449	35029542	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02965.hp2 NA18986.hp1 others(2): Show HG01891.hp2 HG02965.hp2 NA18986.hp1 NA18986.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0020	5	404	0.0124	-13	c.-12 others(24): Show c.-1278_-1266delAAAAAAAAAAAAA	SCN1B	ENSG00000105711.14	transcript	ENST00000262631.11	protein_coding		927		chr19	TogoVar
SCN2A_chr2_165234414_165397304	165272793	CACACACA others(6): Show CACACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	358	0.0028	-13	c.-51 others(32): Show c.-51-22978_-51-22966delCACACACACACAA	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2B_chr11_118157806_118181639	118178887	ATTATTAT others(6): Show ATTATTATTATTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0196 a0001c0001t0012g0196	1	450	0.0022	-13	c.-24 others(24): Show c.-2469_-2457delATAATAATAATAA	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding		2249		chr11	TogoVar
SCN2B_chr11_118157806_118181639	118179408	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 NA18983.hp1 HG02602.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0180 a0001c0001t0007g0229 a0001c0001t0001g0180 a0001c0001t0007g0229	2	450	0.0044	-13	c.-29 others(24): Show c.-2990_-2978delAAAAAAAAAAAAA	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding		2770		chr11	TogoVar
SCN3A_chr2_165082526_165209050	165156512	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(92): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00558.hp2 HG00639.hp1 HG00733.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01168.hp1 HG01255.hp2 HG01261.hp1 HG01496.hp1 HG01515.hp2 HG01975.hp1 HG02004.hp2 HG02040.hp2 HG02080.hp1 HG02083.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp2 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp2 NA18950.hp2 NA18954.hp1 NA18959.hp2 NA18961.hp1 NA18971.hp1 NA18971.hp2 NA18978.hp1 NA18983.hp1 NA18993.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19068.hp2 NA19070.hp2 NA19084.hp1 NA19089.hp2 NA19091.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0009 a0013	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0011 a0001c0014 a0001c0022 a0001c0026 a0001c0031 a0002c0006 a0002c0015 a0004c0010 a0009c0016 a0013c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0021 a0001c0004t0001 a0001c0004t0004 a0001c0004t0009 a0001c0005t0002 a0001c0008t0001 a0001c0009t0005 a0001c0009t0007 a0001c0011t0001 a0001c0014t0001 a0001c0022t0001 a0001c0026t0001 a0001c0031t0001 a0002c0006t0002 a0002c0006t0004 a0002c0015t0001 a0004c0010t0001 a0009c0016t0005 a0013c0028t0001	a0001c0001t0001g0005 a0001c0001t0001g0063 a0001c0001t0001g0074 others(89): Show a0001c0001t0001g0005 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0194 a0001c0001t0001g0211 a0001c0001t0001g0252 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0003g0006 a0001c0001t0003g0287 a0001c0001t0003g0299 a0001c0001t0008g0077 a0001c0001t0008g0078 a0001c0002t0001g0079 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0150 a0001c0002t0001g0167 a0001c0002t0001g0182 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0189 a0001c0002t0001g0220 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0003g0288 a0001c0002t0003g0289 a0001c0002t0003g0295 a0001c0003t0001g0002 a0001c0003t0001g0076 a0001c0003t0001g0085 a0001c0003t0001g0094 a0001c0003t0001g0121 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0155 a0001c0003t0001g0166 a0001c0003t0001g0175 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0203 a0001c0003t0001g0207 a0001c0003t0001g0209 a0001c0003t0001g0245 a0001c0003t0001g0246 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0249 a0001c0003t0001g0250 a0001c0003t0001g0255 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0260 a0001c0003t0001g0262 a0001c0003t0002g0056 a0001c0003t0002g0061 a0001c0003t0003g0281 a0001c0003t0003g0282 a0001c0003t0003g0292 a0001c0003t0021g0297 a0001c0004t0001g0073 a0001c0004t0004g0007 a0001c0004t0009g0008 a0001c0005t0002g0026 a0001c0008t0001g0154 a0001c0009t0005g0306 a0001c0009t0007g0300 a0001c0009t0007g0301 a0001c0011t0001g0089 a0001c0014t0001g0172 a0001c0022t0001g0242 a0001c0026t0001g0165 a0001c0031t0001g0208 a0002c0006t0002g0035 a0002c0006t0002g0036 a0002c0006t0004g0009 a0002c0006t0004g0014 a0002c0006t0004g0017 a0002c0015t0001g0205 a0002c0015t0001g0206 a0004c0010t0001g0138 a0009c0016t0005g0303 a0013c0028t0001g0198	95	314	0.3026	-13	c.103 others(30): Show c.1032-622_1032-610delTTTTTTTTTTTTT	SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding	9/27			chr2	TogoVar
SCN4A_chr17_63933554_63977918	63943203	CAGAGATG others(6): Show CAGAGATGACAGAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00609.hp1 others(141): Show HG00280.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01167.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp2 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 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19081.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0004 a0006 others(11): Show a0001 a0004 a0006 a0008 a0010 a0011 a0015 a0016 a0017 a0018 a0022 a0029 a0032 a0033	a0001c0002 a0001c0005 a0001c0006 others(32): Show a0001c0002 a0001c0005 a0001c0006 a0001c0011 a0001c0013 a0001c0014 a0001c0017 a0001c0018 a0001c0021 a0001c0024 a0001c0026 a0001c0028 a0001c0035 a0001c0052 a0001c0059 a0001c0067 a0001c0070 a0001c0073 a0001c0078 a0004c0019 a0004c0045 a0004c0046 a0004c0047 a0006c0008 a0008c0081 a0010c0034 a0011c0083 a0015c0053 a0016c0061 a0017c0031 a0018c0079 a0022c0055 a0029c0036 a0032c0049 a0033c0060	a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 others(43): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0002t0019 a0001c0002t0021 a0001c0005t0003 a0001c0006t0003 a0001c0006t0007 a0001c0006t0018 a0001c0006t0029 a0001c0011t0002 a0001c0013t0003 a0001c0013t0007 a0001c0014t0008 a0001c0014t0011 a0001c0017t0009 a0001c0018t0001 a0001c0021t0009 a0001c0024t0001 a0001c0026t0003 a0001c0028t0001 a0001c0028t0012 a0001c0035t0018 a0001c0052t0024 a0001c0059t0001 a0001c0067t0001 a0001c0070t0007 a0001c0073t0028 a0001c0078t0001 a0004c0019t0001 a0004c0019t0026 a0004c0045t0009 a0004c0046t0011 a0004c0047t0003 a0006c0008t0001 a0008c0081t0003 a0010c0034t0001 a0011c0083t0016 a0015c0053t0003 a0016c0061t0003 a0017c0031t0027 a0018c0079t0009 a0022c0055t0001 a0029c0036t0001 a0032c0049t0002 a0033c0060t0001	a0001c0002t0001g0001 a0001c0002t0001g0014 a0001c0002t0001g0015 others(109): 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 a0001c0002t0001g0189 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0246 a0001c0002t0002g0058 a0001c0002t0002g0089 a0001c0002t0002g0165 a0001c0002t0002g0214 a0001c0002t0012g0016 a0001c0002t0019g0080 a0001c0002t0021g0073 a0001c0005t0003g0010 a0001c0005t0003g0041 a0001c0005t0003g0118 a0001c0005t0003g0129 a0001c0005t0003g0131 a0001c0005t0003g0220 a0001c0005t0003g0221 a0001c0005t0003g0224 a0001c0006t0003g0106 a0001c0006t0003g0144 a0001c0006t0003g0145 a0001c0006t0007g0022 a0001c0006t0007g0023 a0001c0006t0018g0138 a0001c0006t0029g0226 a0001c0011t0002g0046 a0001c0013t0003g0011 a0001c0013t0007g0260 a0001c0014t0008g0112 a0001c0014t0011g0110 a0001c0014t0011g0111 a0001c0014t0011g0113 a0001c0017t0009g0216 a0001c0018t0001g0027 a0001c0018t0001g0254 a0001c0021t0009g0107 a0001c0021t0009g0108 a0001c0024t0001g0156 a0001c0024t0001g0177 a0001c0026t0003g0033 a0001c0028t0001g0268 a0001c0028t0012g0266 a0001c0035t0018g0117 a0001c0052t0024g0139 a0001c0059t0001g0047 a0001c0067t0001g0086 a0001c0070t0007g0142 a0001c0073t0028g0114 a0001c0078t0001g0276 a0004c0019t0001g0053 a0004c0019t0026g0169 a0004c0045t0009g0120 a0004c0046t0011g0130 a0004c0047t0003g0119 a0006c0008t0001g0005 a0006c0008t0001g0071 a0006c0008t0001g0103 a0008c0081t0003g0279 a0010c0034t0001g0149 a0011c0083t0016g0281 a0015c0053t0003g0134 a0016c0061t0003g0222 a0017c0031t0027g0044 a0018c0079t0009g0280 a0022c0055t0001g0084 a0029c0036t0001g0050 a0032c0049t0002g0059 a0033c0060t0001g0063	144	356	0.4045	-13	c.401 others(30): Show c.4018-120_4018-108delCTCTGTCATCTCT	SCN4A	ENSG00000007314.12	transcript	ENST00000435607.3	protein_coding	22/23			chr17	TogoVar
SCN5A_chr3_38543062_38654687	38555071	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0025 a0025	a0025c0075 a0025c0075	a0025c0075t0003 a0025c0075t0003	a0025c0075t0003g0166 a0025c0075t0003g0166	1	340	0.0029	-13	c.454 others(30): Show c.4543-535_4543-523delATATATATATATA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38555082	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0124 a0001c0003t0004g0124	1	340	0.0029	-13	c.454 others(30): Show c.4543-546_4543-534delTATATATATATAT	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38555090	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0068 a0006c0068	a0006c0068t0017 a0006c0068t0017	a0006c0068t0017g0039 a0006c0068t0017g0039	1	340	0.0029	-13	c.454 others(30): Show c.4542+553_4543-542delTATATATATATAT	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38555093	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02735.hp2 HG01192.hp2 HG02735.hp2	a0001 a0002 a0001 a0002	a0001c0023 a0002c0007 a0001c0023 a0002c0007	a0001c0023t0001 a0002c0007t0003 a0001c0023t0001 a0002c0007t0003	a0001c0023t0001g0221 a0002c0007t0003g0046 a0001c0023t0001g0221 a0002c0007t0003g0046	2	340	0.0059	-13	c.454 others(30): Show c.4542+550_4543-545delATATATATATATA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38562004	GGGGCACA others(6): Show GGGGCACACAGAGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00609.hp1 others(75): Show HG00423.hp1 HG00558.hp1 HG00609.hp1 HG00673.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03471.hp2 HG03491.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18966.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp2 NA18986.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19005.hp1 NA19007.hp2 NA19043.hp1 NA19057.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19079.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2	a0001 a0002 a0005 others(6): Show a0001 a0002 a0005 a0006 a0008 a0012 a0020 a0022 a0026	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0022 a0001c0033 a0001c0038 a0001c0043 a0001c0055 a0002c0006 a0002c0007 a0002c0035 a0002c0062 a0005c0030 a0006c0067 a0006c0068 a0008c0021 a0012c0037 a0020c0052 a0022c0074 a0026c0034	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(26): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0003t0022 a0001c0008t0002 a0001c0022t0006 a0001c0033t0002 a0001c0038t0016 a0001c0043t0004 a0001c0055t0020 a0002c0006t0002 a0002c0006t0004 a0002c0006t0005 a0002c0007t0002 a0002c0007t0018 a0002c0035t0004 a0002c0062t0008 a0005c0030t0008 a0006c0067t0028 a0006c0068t0017 a0008c0021t0002 a0012c0037t0002 a0020c0052t0004 a0022c0074t0002 a0026c0034t0002	a0001c0001t0002g0004 a0001c0001t0002g0020 a0001c0001t0002g0033 others(73): Show a0001c0001t0002g0004 a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0223 a0001c0001t0002g0237 a0001c0001t0002g0255 a0001c0001t0002g0272 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0320 a0001c0001t0004g0144 a0001c0001t0004g0151 a0001c0001t0004g0156 a0001c0001t0004g0162 a0001c0001t0004g0176 a0001c0001t0004g0215 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0314 a0001c0001t0004g0321 a0001c0001t0004g0326 a0001c0001t0004g0333 a0001c0001t0006g0172 a0001c0002t0001g0276 a0001c0002t0001g0330 a0001c0003t0002g0002 a0001c0003t0002g0067 a0001c0003t0002g0084 a0001c0003t0002g0167 a0001c0003t0002g0297 a0001c0003t0004g0071 a0001c0003t0004g0079 a0001c0003t0004g0088 a0001c0003t0004g0090 a0001c0003t0004g0104 a0001c0003t0004g0123 a0001c0003t0004g0124 a0001c0003t0004g0200 a0001c0003t0006g0171 a0001c0003t0022g0119 a0001c0008t0002g0009 a0001c0022t0006g0240 a0001c0022t0006g0306 a0001c0033t0002g0066 a0001c0038t0016g0118 a0001c0043t0004g0189 a0001c0055t0020g0034 a0002c0006t0002g0257 a0002c0006t0004g0251 a0002c0006t0004g0252 a0002c0006t0004g0285 a0002c0006t0004g0318 a0002c0006t0004g0334 a0002c0006t0005g0253 a0002c0007t0002g0011 a0002c0007t0018g0152 a0002c0035t0004g0077 a0002c0062t0008g0013 a0005c0030t0008g0050 a0005c0030t0008g0219 a0006c0067t0028g0282 a0006c0068t0017g0039 a0008c0021t0002g0157 a0008c0021t0002g0195 a0012c0037t0002g0051 a0020c0052t0004g0327 a0022c0074t0002g0224 a0026c0034t0002g0092	78	340	0.2294	-13	c.396 others(30): Show c.3963+398_3963+410delACTCTGTGTGCCC	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	22/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38626071	GAACACCC others(6): Show GAACACCCAGACTC	G G	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0103 a0001c0003t0003g0103	1	340	0.0029	-13	c.393 others(30): Show c.393-3595_393-3583delGAGTCTGGGTGTT	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	3/27			chr3	TogoVar
SCN8A_chr12_51586233_51817864	51639879	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03130.hp2 HG00639.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0192 a0001c0001t0006g0202 a0001c0001t0003g0192 a0001c0001t0006g0202	2	202	0.0099	-13	c.-54 others(32): Show c.-54-22859_-54-22847delTTTTTTTTTTTTT	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51640212	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02257.hp2 others(5): Show HG01884.hp2 HG02055.hp2 HG02257.hp2 HG02258.hp2 HG02886.hp2 HG02895.hp2 HG03453.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0001c0011	a0001c0001t0011 a0001c0003t0006 a0001c0003t0009 others(5): Show a0001c0001t0011 a0001c0003t0006 a0001c0003t0009 a0001c0003t0015 a0001c0006t0001 a0001c0007t0004 a0001c0009t0024 a0001c0011t0025	a0001c0001t0011g0178 a0001c0003t0006g0116 a0001c0003t0009g0114 others(5): Show a0001c0001t0011g0178 a0001c0003t0006g0116 a0001c0003t0009g0114 a0001c0003t0015g0115 a0001c0006t0001g0103 a0001c0007t0004g0104 a0001c0009t0024g0112 a0001c0011t0025g0113	8	202	0.0396	-13	c.-54 others(32): Show c.-54-22523_-54-22511delTTTTTTTTTTTTT	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166199975	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00741.hp2 others(3): Show HG00323.hp1 HG00323.hp2 HG00741.hp2 HG03710.hp1 NA18959.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0015 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0015 a0001c0002t0001 a0001c0003t0001 a0001c0003t0015 a0001c0003t0026	a0001c0001t0015g0149 a0001c0002t0001g0184 a0001c0003t0001g0225 others(3): Show a0001c0001t0015g0149 a0001c0002t0001g0184 a0001c0003t0001g0225 a0001c0003t0001g0254 a0001c0003t0015g0063 a0001c0003t0026g0231	6	296	0.0203	-13	c.477 others(30): Show c.4775-124_4775-112delAAAAAAAAAAAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166222932	AAAAAAAA others(6): Show AAAAAAAAAACAAC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0022 a0004c0008t0022	a0004c0008t0022g0010 a0004c0008t0022g0010	1	296	0.0034	-13	c.439 others(32): Show c.4398+3622_4398+3634delGTTGTTTTTTTTT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	24/26			chr2	TogoVar

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