Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SCFD2_chr4_52867982_53371061	53217461	CAACCCCT others(15): Show CAACCCCTGCCTTTTTTTGTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	162	0.0062	-22	c.131 others(43): Show c.1311+56343_1311+56364delAAAACAAAAAAAGGCAGGGGTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53258538	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0158 a0001c0004t0006g0158	1	162	0.0062	-22	c.131 others(43): Show c.1311+15266_1311+15287delTATATATATATATATATATATA	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51709685	ATATATAT others(15): Show ATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0253 a0003c0004t0003g0253	1	402	0.0025	-22	c.120 others(41): Show c.1208-3646_1208-3625delATATATATATATATATTTTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32663032	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp2 HG00639.hp1 others(33): Show HG00140.hp2 HG00597.hp2 HG00639.hp1 HG01069.hp2 HG01099.hp1 HG01167.hp1 HG01261.hp2 HG01433.hp2 HG01891.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02132.hp2 HG02145.hp1 HG02523.hp1 HG02572.hp1 HG02698.hp2 HG02738.hp1 HG02886.hp1 HG03017.hp1 HG03834.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp2 NA18954.hp2 NA18957.hp1 NA18964.hp1 NA18971.hp2 NA18977.hp1 NA18999.hp2 NA19002.hp1 NA19007.hp1 NA19063.hp1 NA19064.hp2 NA19070.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 others(32): Show a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0117 a0001c0001t0001g0186 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0232 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0267 a0001c0001t0001g0281 a0001c0001t0001g0322 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0366 a0001c0001t0002g0028 a0001c0001t0005g0195	36	415	0.0868	-22	c.227 others(41): Show c.227-16708_227-16687delTATATATATATATATATATATA	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB2A1_chr11_62203673_62218943	62212935	CACACATA others(15): Show CACACATATGTACACACATATGT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02965.hp2 HG02809.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0076 a0001c0001t0001g0077	2	442	0.0045	-22	c.244 others(37): Show c.244-775_244-754delCATATGTACACATATGTACACA	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2A1_chr11_62203673_62218943	62213069	TACATATA others(15): Show TACATATATACACATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp2 HG02559.hp2 others(3): Show HG01243.hp2 HG02486.hp2 HG02559.hp2 HG03453.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0136 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0136 a0001c0001t0001g0137	6	442	0.0136	-22	c.244 others(37): Show c.244-655_244-634delCATATATACACATATATACACA	SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2B2_chr19_34585644_34682159	34645519	CACACAGA others(15): Show CACACAGACACACACAGACACAG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02818.hp1 HG02970.hp1 others(3): Show HG02055.hp1 HG02818.hp1 HG02970.hp1 HG03130.hp2 HG03195.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0095 a0001c0001t0096 others(2): Show a0001c0001t0017 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0099	a0001c0001t0017g0204 a0001c0001t0017g0206 a0001c0001t0095g0207 others(3): Show a0001c0001t0017g0204 a0001c0001t0017g0206 a0001c0001t0095g0207 a0001c0001t0096g0203 a0001c0001t0097g0205 a0001c0001t0099g0208	6	370	0.0162	-22	c.-20 others(45): Show c.-2032+30089_-2032+30110delCTGTGTCTGTGTGTGTCTGTGT	SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3			chr19	TogoVar
SCGB3A2_chr5_147873711_147887191	147884649	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTCTTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	424	0.0024	-22	c.26 others(33): Show c.2600_*2621delTTTCTTTCTTTCTTCTTTCTTT	SCGB3A2	ENSG00000164265.9	transcript	ENST00000296694.5	protein_coding		2459		chr5	TogoVar
SCGN_chr6_25647215_25706783	25658003	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03209.hp1 HG02723.hp1 HG03209.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0011 a0001c0001 a0009c0011	a0001c0001t0002 a0009c0011t0003 a0001c0001t0002 a0009c0011t0003	a0001c0001t0002g0168 a0009c0011t0003g0336 a0001c0001t0002g0168 a0009c0011t0003g0336	2	368	0.0054	-22	c.154 others(39): Show c.154-3516_154-3495delTTTTTTTTTTTTTTTTTTTTTT	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCHIP1_chr3_159268244_159902359	159385616	TCAGCACT others(15): Show TCAGCACTATCTAATCCAGGCAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	100	0.0100	-22	c.63+ others(41): Show c.63+111736_63+111757delGCACTATCTAATCCAGGCAACA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159750257	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG01891.hp2 others(10): Show HG01243.hp1 HG01884.hp1 HG01891.hp2 HG01978.hp2 HG02451.hp2 HG02723.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03195.hp2 HG03486.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(10): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0087 a0001c0001t0005g0080 a0001c0002t0001g0033 a0001c0002t0001g0076 a0002c0003t0001g0034	13	100	0.1300	-22	c.64- others(39): Show c.64-14184_64-14163delGTGTGTATATATATATATATAT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159828388	CATATATA others(15): Show CATATATACGTATATATATACGT	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	100	0.0100	-22	c.760 others(41): Show c.760-37723_760-37702delCGTATATATATACGTATATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIN_chr7_12565720_12665182	12657556	ATATATAT others(15): Show ATATATATATATATATATTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 NA18906.hp1 HG00741.hp2 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0041 a0004c0005t0041 a0001c0001t0041 a0004c0005t0041	a0001c0001t0041g0197 a0004c0005t0041g0081 a0001c0001t0041g0197 a0004c0005t0041g0081	2	372	0.0054	-22	c.48 others(33): Show c.4843_*4864delATATATATATATATATTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4843	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLT1_chr4_128878993_129098539	128894363	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01081.hp2 others(49): Show HG00140.hp1 HG00738.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01255.hp2 HG01261.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02083.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02698.hp1 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03130.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03942.hp2 NA18522.hp2 NA18906.hp1 NA18947.hp1 NA18952.hp1 NA18956.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18997.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19054.hp2 NA19056.hp1 NA19068.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0004t0001	a0001c0001t0001g0123 a0001c0001t0001g0186 a0001c0001t0001g0190 others(49): Show a0001c0001t0001g0123 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0041 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0271 a0001c0002t0001g0276 a0001c0002t0005g0039 a0001c0002t0005g0045 a0001c0002t0005g0053 a0001c0002t0008g0100 a0001c0004t0001g0018	52	288	0.1806	-22	c.183 others(41): Show c.1830-3248_1830-3227delGTGTGTGTGTGTGTGTGTGTGT	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	18/20			chr4	TogoVar
SCLT1_chr4_128878993_129098539	129028294	AACCAAAA others(15): Show AACCAAAACAGCATGGTACTGGT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2	a0002 a0002	a0002c0006 a0002c0009 a0002c0006 a0002c0009	a0002c0006t0001 a0002c0009t0001 a0002c0006t0001 a0002c0009t0001	a0002c0006t0001g0182 a0002c0006t0001g0183 a0002c0009t0001g0184 a0002c0006t0001g0182 a0002c0006t0001g0183 a0002c0009t0001g0184	3	288	0.0104	-22	c.290 others(41): Show c.290+10725_290+10746delACCAGTACCATGCTGTTTTGGT	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	5/20			chr4	TogoVar
SCML4_chr6_107697154_107829313	107778206	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	250	0.0040	-22	c.-59 others(39): Show c.-59-5842_-59-5821delATATATTTTTTTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0163 a0001c0002t0010g0163	1	250	0.0040	-22	c.-59 others(39): Show c.-59-5858_-59-5837delATATATATATATATATATATAT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107813403	TATATATA others(15): Show TATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03486.hp2 NA18984.hp1 others(1): Show HG02602.hp2 HG03486.hp2 NA18984.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0003t0007	a0001c0001t0002g0177 a0001c0001t0003g0126 a0001c0001t0008g0176 others(1): Show a0001c0001t0002g0177 a0001c0001t0003g0126 a0001c0001t0008g0176 a0001c0003t0007g0051	4	250	0.0160	-22	c.-60 others(41): Show c.-60+10701_-60+10722delTTATATATATATATATATATAT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38719367	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01069.hp1 HG01074.hp1 others(55): Show HG00280.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01975.hp1 HG02109.hp2 HG02148.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG02738.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03579.hp1 HG03704.hp1 HG03831.hp1 HG03927.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18950.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2	a0001 a0005 a0009 others(3): Show a0001 a0005 a0009 a0010 a0019 a0030	a0001c0003 a0001c0006 a0001c0007 others(11): Show a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0017 a0001c0018 a0001c0027 a0001c0051 a0001c0066 a0005c0011 a0009c0022 a0010c0028 a0019c0050 a0030c0061	a0001c0003t0001 a0001c0003t0002 a0001c0006t0002 others(13): Show a0001c0003t0001 a0001c0003t0002 a0001c0006t0002 a0001c0007t0001 a0001c0008t0001 a0001c0017t0002 a0001c0018t0002 a0001c0018t0003 a0001c0027t0001 a0001c0051t0002 a0001c0066t0001 a0005c0011t0001 a0009c0022t0001 a0010c0028t0001 a0019c0050t0001 a0030c0061t0001	a0001c0003t0001g0043 a0001c0003t0002g0036 a0001c0003t0002g0080 others(55): Show a0001c0003t0001g0043 a0001c0003t0002g0036 a0001c0003t0002g0080 a0001c0003t0002g0086 a0001c0003t0002g0328 a0001c0006t0002g0013 a0001c0006t0002g0018 a0001c0006t0002g0133 a0001c0006t0002g0134 a0001c0006t0002g0135 a0001c0006t0002g0136 a0001c0006t0002g0137 a0001c0006t0002g0138 a0001c0006t0002g0139 a0001c0006t0002g0140 a0001c0006t0002g0151 a0001c0006t0002g0155 a0001c0006t0002g0156 a0001c0006t0002g0158 a0001c0006t0002g0160 a0001c0006t0002g0161 a0001c0006t0002g0332 a0001c0006t0002g0334 a0001c0006t0002g0336 a0001c0007t0001g0035 a0001c0007t0001g0037 a0001c0007t0001g0038 a0001c0007t0001g0103 a0001c0007t0001g0128 a0001c0007t0001g0364 a0001c0007t0001g0365 a0001c0007t0001g0366 a0001c0008t0001g0020 a0001c0008t0001g0113 a0001c0008t0001g0114 a0001c0008t0001g0116 a0001c0008t0001g0183 a0001c0008t0001g0197 a0001c0008t0001g0280 a0001c0008t0001g0281 a0001c0008t0001g0344 a0001c0008t0001g0360 a0001c0017t0002g0283 a0001c0017t0002g0285 a0001c0017t0002g0327 a0001c0018t0002g0119 a0001c0018t0003g0005 a0001c0018t0003g0006 a0001c0027t0001g0159 a0001c0051t0002g0081 a0001c0066t0001g0187 a0005c0011t0001g0045 a0009c0022t0001g0358 a0009c0022t0001g0359 a0010c0028t0001g0245 a0010c0028t0001g0246 a0019c0050t0001g0093 a0030c0061t0001g0211	58	372	0.1559	-22	c.350 others(39): Show c.3508-563_3508-542delAAAAAAAAAAAAAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	20/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938530	ATATATAT others(15): Show ATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19043.hp2 HG02258.hp1 NA19043.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0200 a0001c0009t0007g0203 a0001c0009t0007g0200 a0001c0009t0007g0203	2	314	0.0064	-22	c.488 others(39): Show c.488+6859_488+6880delAATATATATATATATATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938532	ATATATAT others(15): Show ATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0201 a0001c0009t0007g0201	1	314	0.0032	-22	c.488 others(39): Show c.488+6857_488+6878delAAAATATATATATATATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938540	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0199 a0001c0002t0014g0199	1	314	0.0032	-22	c.488 others(39): Show c.488+6849_488+6870delAAAAAAAAAAAATATATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166123223	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(247): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009	a0001c0001 a0001c0003 a0001c0004 others(13): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0021 a0001c0023 a0001c0024 a0002c0002 a0002c0019 a0003c0007 a0004c0020 a0006c0015 a0007c0018 a0009c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(68): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0035 a0001c0001t0038 a0001c0001t0039 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0051 a0001c0001t0057 a0001c0001t0059 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0070 a0001c0001t0073 a0001c0001t0081 a0001c0001t0082 a0001c0001t0086 a0001c0001t0092 a0001c0003t0020 a0001c0004t0032 a0001c0004t0033 a0001c0004t0055 a0001c0005t0084 a0001c0005t0085 a0001c0006t0041 a0001c0008t0003 a0001c0021t0003 a0001c0023t0023 a0001c0024t0003 a0002c0002t0007 a0002c0002t0010 a0002c0002t0015 a0002c0002t0018 a0002c0002t0026 a0002c0002t0027 a0002c0002t0030 a0002c0002t0037 a0002c0002t0071 a0002c0002t0074 a0002c0002t0075 a0002c0002t0076 a0002c0002t0077 a0002c0019t0007 a0003c0007t0044 a0004c0020t0040 a0006c0015t0007 a0007c0018t0007 a0009c0022t0013	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 others(245): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0084 a0001c0001t0001g0124 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0171 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0224 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0026 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0138 a0001c0001t0002g0154 a0001c0001t0002g0348 a0001c0001t0003g0013 a0001c0001t0003g0094 a0001c0001t0003g0122 a0001c0001t0003g0175 a0001c0001t0003g0179 a0001c0001t0003g0183 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0204 a0001c0001t0003g0208 a0001c0001t0003g0212 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0004g0121 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0241 a0001c0001t0005g0170 a0001c0001t0005g0185 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0196 a0001c0001t0005g0211 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0217 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0228 a0001c0001t0005g0230 a0001c0001t0005g0300 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0008g0001 a0001c0001t0008g0180 a0001c0001t0008g0202 a0001c0001t0008g0205 a0001c0001t0008g0206 a0001c0001t0008g0207 a0001c0001t0008g0223 a0001c0001t0008g0233 a0001c0001t0011g0236 a0001c0001t0012g0003 a0001c0001t0012g0004 a0001c0001t0012g0006 a0001c0001t0012g0009 a0001c0001t0012g0010 a0001c0001t0012g0012 a0001c0001t0013g0173 a0001c0001t0013g0174 a0001c0001t0013g0182 a0001c0001t0013g0215 a0001c0001t0014g0025 a0001c0001t0014g0027 a0001c0001t0014g0029 a0001c0001t0014g0030 a0001c0001t0014g0031 a0001c0001t0014g0125 a0001c0001t0016g0177 a0001c0001t0016g0210 a0001c0001t0016g0229 a0001c0001t0016g0235 a0001c0001t0017g0018 a0001c0001t0017g0028 a0001c0001t0017g0056 a0001c0001t0019g0035 a0001c0001t0019g0103 a0001c0001t0019g0150 a0001c0001t0019g0243 a0001c0001t0021g0157 a0001c0001t0021g0158 a0001c0001t0021g0162 a0001c0001t0022g0209 a0001c0001t0022g0216 a0001c0001t0022g0244 a0001c0001t0023g0146 a0001c0001t0025g0073 a0001c0001t0025g0087 a0001c0001t0025g0088 a0001c0001t0026g0080 a0001c0001t0026g0081 a0001c0001t0028g0008 a0001c0001t0028g0011 a0001c0001t0035g0082 a0001c0001t0035g0083 a0001c0001t0038g0156 a0001c0001t0038g0222 a0001c0001t0039g0128 a0001c0001t0046g0352 a0001c0001t0046g0353 a0001c0001t0047g0007 a0001c0001t0048g0005 a0001c0001t0051g0036 a0001c0001t0057g0199 a0001c0001t0059g0247 a0001c0001t0062g0086 a0001c0001t0063g0051 a0001c0001t0064g0106 a0001c0001t0065g0066 a0001c0001t0066g0203 a0001c0001t0067g0184 a0001c0001t0070g0074 a0001c0001t0073g0050 a0001c0001t0081g0231 a0001c0001t0082g0104 a0001c0001t0086g0107 a0001c0001t0092g0354 a0001c0003t0020g0163 a0001c0004t0032g0034 a0001c0004t0032g0089 a0001c0004t0033g0032 a0001c0004t0033g0033 a0001c0004t0055g0136 a0001c0005t0084g0072 a0001c0005t0085g0037 a0001c0006t0041g0095 a0001c0008t0003g0061 a0001c0008t0003g0225 a0001c0021t0003g0191 a0001c0023t0023g0176 a0001c0024t0003g0014 a0002c0002t0007g0092 a0002c0002t0007g0137 a0002c0002t0007g0139 a0002c0002t0007g0142 a0002c0002t0007g0145 a0002c0002t0007g0153 a0002c0002t0007g0303 a0002c0002t0010g0075 a0002c0002t0010g0076 a0002c0002t0010g0077 a0002c0002t0010g0078 a0002c0002t0010g0169 a0002c0002t0015g0166 a0002c0002t0018g0178 a0002c0002t0018g0181 a0002c0002t0018g0186 a0002c0002t0018g0187 a0002c0002t0026g0019 a0002c0002t0027g0151 a0002c0002t0027g0152 a0002c0002t0030g0039 a0002c0002t0037g0053 a0002c0002t0037g0055 a0002c0002t0071g0079 a0002c0002t0074g0155 a0002c0002t0075g0167 a0002c0002t0076g0143 a0002c0002t0077g0161 a0002c0019t0007g0164 a0003c0007t0044g0149 a0004c0020t0040g0135 a0006c0015t0007g0240 a0007c0018t0007g0165 a0009c0022t0013g0172	250	356	0.7023	-22	c.-14 others(41): Show c.-142+3679_-142+3700delTTTTTTTTTTTTTTTTTTTTTT	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCN1B_chr19_35025470_35045449	35034777	AGAAAACC others(15): Show AGAAAACCAAGGCTCAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	404	0.0025	-22	c.448 others(39): Show c.448+1039_448+1060delGAAAACCAAGGCTCAGGGAGGG	SCN1B	ENSG00000105711.14	transcript	ENST00000262631.11	protein_coding	3/5			chr19	TogoVar
SCN2A_chr2_165234414_165397304	165306504	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp2 HG01099.hp1 others(13): Show HG00639.hp2 HG01074.hp2 HG01099.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01496.hp1 HG01884.hp1 HG02602.hp1 HG02738.hp1 HG03490.hp1 HG03492.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0083 a0001c0001t0001g0269 others(13): Show a0001c0001t0001g0042 a0001c0001t0001g0083 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0348	16	358	0.0447	-22	c.387 others(39): Show c.387-1316_387-1295delGTGTGTGTGTGTGTGTGTGTGT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN3A_chr2_165082526_165209050	165086907	TTGCCCAG others(15): Show TTGCCCAGGCTGGAGTGCAGTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00558.hp2 others(16): Show HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp2 NA18612.hp1 NA18941.hp1 NA18942.hp2 NA18947.hp1 NA18959.hp2 NA18964.hp2 NA18971.hp2 NA18980.hp1 NA18990.hp2 NA18993.hp1 NA19001.hp1 NA19056.hp1 NA19057.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0011t0003	a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0185 others(16): Show a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0002g0034 a0001c0002t0003g0295 a0001c0011t0003g0294	19	314	0.0605	-22	c.32 others(33): Show c.3221_*3242delCCACTGCACTCCAGCCTGGGCA	SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding		618		chr2	TogoVar
SCN3B_chr11_123624188_123659624	123644788	AGAGAGAG others(15): Show AGAGAGAGAGAGAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02056.hp2 HG03831.hp2 others(4): Show HG02040.hp2 HG02056.hp2 HG03831.hp2 HG03834.hp2 HG04204.hp1 NA18949.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0029	a0001c0001t0001g0127 a0001c0001t0001g0148 a0001c0001t0001g0149 others(4): Show a0001c0001t0001g0127 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0002g0120 a0001c0001t0002g0150 a0001c0001t0014g0116 a0001c0001t0029g0117	7	450	0.0156	-22	c.219 others(37): Show c.219+777_219+798delATATATATATTCTCTCTCTCTC	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding	3/6			chr11	TogoVar
SCN3B_chr11_123624188_123659624	123644800	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18995.hp1 HG00558.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	2	450	0.0044	-22	c.219 others(37): Show c.219+765_219+786delATATATATATATATATATATAT	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding	3/6			chr11	TogoVar
SCN5A_chr3_38543062_38654687	38555087	ATATATAT others(15): Show ATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0274 a0002c0005t0001g0274	1	340	0.0029	-22	c.454 others(39): Show c.4542+547_4543-539delAAAATATATATATATATATATA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN7A_chr2_166398573_166499249	166414249	TATATAGA others(15): Show TATATAGATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0008 a0010c0013t0008	a0010c0013t0008g0020 a0010c0013t0008g0020	1	394	0.0025	-22	c.341 others(41): Show c.3415-1150_3415-1129delGTGTGTGTATATATATCTATAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN8A_chr12_51586233_51817864	51640212	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	202	0.0050	-22	c.-54 others(41): Show c.-54-22532_-54-22511delTTTTTTTTTTTTTTTTTTTTTT	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN8A_chr12_51586233_51817864	51780565	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0190 a0001c0006t0001g0190	1	202	0.0050	-22	c.382 others(37): Show c.3820-66_3820-45delTTTTTTTTTTTTTTTTTTTTTT	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166191679	ATACACAC others(15): Show ATACACACACATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG00642.hp1 others(43): Show HG00609.hp2 HG00621.hp2 HG00642.hp1 HG01070.hp1 HG01071.hp1 HG01168.hp1 HG01192.hp2 HG01243.hp2 HG01361.hp1 HG01928.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02056.hp2 HG02074.hp1 HG02135.hp1 HG02257.hp2 HG02293.hp1 HG02735.hp1 HG03017.hp1 HG03492.hp2 HG03927.hp2 NA18942.hp2 NA18953.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18968.hp2 NA18970.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18988.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19006.hp1 NA19011.hp2 NA19063.hp1 NA19066.hp2 NA19091.hp2 NA20752.hp2	a0001 a0025 a0029 others(1): Show a0001 a0025 a0029 a0030	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0001c0017 a0001c0059 a0025c0069 a0029c0070 a0030c0055	a0001c0001t0002 a0001c0002t0002 a0001c0002t0010 others(16): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0010 a0001c0002t0028 a0001c0002t0031 a0001c0002t0035 a0001c0003t0002 a0001c0003t0010 a0001c0003t0027 a0001c0004t0001 a0001c0004t0002 a0001c0005t0002 a0001c0006t0002 a0001c0012t0002 a0001c0017t0002 a0001c0059t0002 a0025c0069t0002 a0029c0070t0002 a0030c0055t0002	a0001c0001t0002g0065 a0001c0001t0002g0084 a0001c0001t0002g0088 others(43): Show a0001c0001t0002g0065 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0189 a0001c0002t0002g0075 a0001c0002t0002g0115 a0001c0002t0002g0132 a0001c0002t0002g0135 a0001c0002t0002g0170 a0001c0002t0002g0227 a0001c0002t0010g0007 a0001c0002t0028g0253 a0001c0002t0031g0131 a0001c0002t0035g0295 a0001c0003t0002g0242 a0001c0003t0002g0243 a0001c0003t0002g0265 a0001c0003t0010g0003 a0001c0003t0010g0006 a0001c0003t0010g0008 a0001c0003t0027g0241 a0001c0004t0001g0134 a0001c0004t0002g0056 a0001c0004t0002g0087 a0001c0004t0002g0095 a0001c0004t0002g0212 a0001c0005t0002g0144 a0001c0005t0002g0152 a0001c0006t0002g0033 a0001c0006t0002g0034 a0001c0006t0002g0035 a0001c0006t0002g0272 a0001c0012t0002g0117 a0001c0012t0002g0178 a0001c0017t0002g0129 a0001c0059t0002g0244 a0025c0069t0002g0118 a0029c0070t0002g0139 a0030c0055t0002g0187	46	296	0.1554	-22	c.69 others(33): Show c.6971_*6992delCATATATATATATGTGTGTGTA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding		3505		chr2	TogoVar
SCN9A_chr2_166190185_166380944	166191682	CACACACA others(15): Show CACACACATATATATATATGTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG00741.hp1 others(7): Show HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01943.hp2 HG01993.hp1 HG02004.hp1 HG02056.hp1 NA18983.hp2 NA19068.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0017 a0001c0054	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0017t0001 a0001c0054t0001	a0001c0001t0001g0066 a0001c0002t0001g0168 a0001c0002t0001g0169 others(7): Show a0001c0001t0001g0066 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0188 a0001c0003t0001g0094 a0001c0003t0001g0285 a0001c0005t0001g0089 a0001c0005t0001g0223 a0001c0017t0001g0288 a0001c0054t0001g0016	10	296	0.0338	-22	c.69 others(33): Show c.6968_*6989delATACATATATATATATGTGTGT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding		3502		chr2	TogoVar
SCN9A_chr2_166190185_166380944	166311330	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	296	0.0034	-22	c.258 others(37): Show c.258+147_258+168delTATATATATATATATATATATA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	2/26			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23305559	TATATATA others(15): Show TATATATATATATATATATTATA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02698.hp2 HG03139.hp1 others(1): Show HG01255.hp1 HG02698.hp2 HG03139.hp1 NA19068.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0007 a0004c0017 a0001c0001 a0002c0007 a0004c0017	a0001c0001t0001 a0002c0007t0001 a0004c0017t0001 a0001c0001t0001 a0002c0007t0001 a0004c0017t0001	a0001c0001t0001g0006 a0001c0001t0001g0014 a0002c0007t0001g0087 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0002c0007t0001g0087 a0004c0017t0001g0015	4	306	0.0131	-22	c.-9+ others(37): Show c.-9+3123_-9+3144delATATATATATATATATATTATA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12			chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23343487	GAAGGAAG others(15): Show GAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02071.hp1 NA18957.hp1 others(2): Show HG01099.hp1 HG02071.hp1 NA18957.hp1 NA19009.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0019 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0002t0001g0039 a0001c0002t0001g0056	5	306	0.0163	-22	c.-8- others(37): Show c.-8-5085_-8-5064delGAAAAGGAAGGAAGGAAGGAAG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1284639	CACAGTGT others(15): Show CACAGTGTGTGCTGGACCATTGG	C C	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0005 a0001c0018t0005	a0001c0018t0005g0224 a0001c0018t0005g0224	1	290	0.0035	-22	c.464 others(37): Show c.464+550_464+571delACAGTGTGTGCTGGACCATTGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17			chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288547	TCCCCCGT others(15): Show TCCCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18967.hp2 NA18947.hp1 NA18967.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0003 a0002c0002t0001 a0003c0004t0003	a0002c0002t0001g0041 a0003c0004t0003g0152 a0002c0002t0001g0041 a0003c0004t0003g0152	2	290	0.0069	-22	c.166 others(39): Show c.1662+514_1662+535delCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288605	TCCCCCGT others(15): Show TCCCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19005.hp1 NA19043.hp2 others(1): Show HG02155.hp2 NA19005.hp1 NA19043.hp2 NA19067.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0002c0003 a0003c0004 others(1): Show a0002c0002 a0002c0003 a0003c0004 a0006c0010	a0002c0002t0001 a0002c0003t0001 a0003c0004t0003 others(1): Show a0002c0002t0001 a0002c0003t0001 a0003c0004t0003 a0006c0010t0007	a0002c0002t0001g0079 a0002c0003t0001g0091 a0003c0004t0003g0137 others(1): Show a0002c0002t0001g0079 a0002c0003t0001g0091 a0003c0004t0003g0137 a0006c0010t0007g0275	4	290	0.0138	-22	c.166 others(39): Show c.1662+572_1662+593delCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288791	TCCCCCGT others(15): Show TCCCCCGTGTCCCTGTTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	290	0.0035	-22	c.166 others(39): Show c.1662+758_1662+779delCCGTGTCCCTGTTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288799	GTCCCTGT others(15): Show GTCCCTGTTCCGTCCCCCGAGTC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp2 HG03490.hp2 HG02258.hp1 HG02976.hp2 HG03490.hp2	a0004 a0019 a0004 a0019	a0004c0008 a0019c0026 a0004c0008 a0019c0026	a0004c0008t0001 a0019c0026t0001 a0004c0008t0001 a0019c0026t0001	a0004c0008t0001g0239 a0004c0008t0001g0240 a0019c0026t0001g0014 a0004c0008t0001g0239 a0004c0008t0001g0240 a0019c0026t0001g0014	3	290	0.0103	-22	c.166 others(39): Show c.1662+765_1662+786delCCTGTTCCGTCCCCCGAGTCTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288921	TCCCCCGT others(15): Show TCCCCCGTGTCCCTGTTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00621.hp1 others(2): Show HG00423.hp2 HG00438.hp2 HG00621.hp1 HG01517.hp2 HG01943.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0002c0002 a0001c0012 a0002c0002	a0001c0012t0001 a0002c0002t0001 a0002c0002t0013 a0001c0012t0001 a0002c0002t0001 a0002c0002t0013	a0001c0012t0001g0131 a0002c0002t0001g0003 a0002c0002t0001g0013 others(2): Show a0001c0012t0001g0131 a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0087 a0002c0002t0013g0075	5	290	0.0172	-22	c.166 others(39): Show c.1662+888_1662+909delCCGTGTCCCTGTTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289165	TCCCCCGT others(15): Show TCCCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	290	0.0035	-22	c.166 others(41): Show c.1663-1102_1663-1081delCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289335	TCCCCCGT others(15): Show TCCCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA19064.hp2 HG02004.hp2 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0189 a0002c0002t0001g0086 a0001c0001t0001g0189 a0002c0002t0001g0086	2	290	0.0069	-22	c.166 others(39): Show c.1663-932_1663-911delCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289725	TCCCCCGT others(15): Show TCCCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0253 a0003c0004t0003g0253	1	290	0.0035	-22	c.166 others(39): Show c.1663-542_1663-521delCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23204322	TATATATA others(15): Show TATATATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0245 a0001c0003t0002g0245	1	320	0.0031	-22	c.107 others(41): Show c.1078-5426_1078-5405delTATATATATATAGAGAGAGAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCP2_chr1_52922276_53056698	53037879	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02451.hp2 HG02738.hp2 others(1): Show HG01109.hp1 HG02451.hp2 HG02738.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0228 a0001c0001t0001g0245 a0001c0003t0001g0167 others(1): Show a0001c0001t0001g0228 a0001c0001t0001g0245 a0001c0003t0001g0167 a0001c0003t0001g0169	4	280	0.0143	-22	c.133 others(40): Show c.1339-1008_1339-987delCACACACACACACACACACACA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444248	CATATACA others(15): Show CATATACATATGAATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(13): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00735.hp1 HG00741.hp2 HG01109.hp2 HG01123.hp2 HG01516.hp1 HG02615.hp2 HG02970.hp2 HG03098.hp2 HG03486.hp1 HG03491.hp1 HG03710.hp2 HG03942.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0008c0013 a0009c0012 a0001c0001 a0008c0013 a0009c0012	a0001c0001t0002 a0001c0001t0003 a0008c0013t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0008c0013t0002 a0009c0012t0002	a0001c0001t0002g0099 a0001c0001t0002g0106 a0001c0001t0002g0113 others(13): Show a0001c0001t0002g0099 a0001c0001t0002g0106 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0130 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0162 a0001c0001t0002g0214 a0001c0001t0002g0225 a0001c0001t0002g0270 a0001c0001t0003g0018 a0001c0001t0003g0054 a0008c0013t0002g0223 a0009c0012t0002g0227	16	290	0.0552	-22	c.114 others(41): Show c.1140+2489_1140+2510delATGTATATATTCATATGTATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCTR_chr2_119434843_119529483	119444414	TACCCATA others(15): Show TACCCATATACGTATGAATATAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	290	0.0035	-22	c.114 others(41): Show c.1140+2323_1140+2344delGTATATTCATACGTATATGGGT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar

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Search Results (Total: 9631 hits)