Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SCARF2_chr22_20419584_20442825	20429291	AGCGCCCG others(11): Show AGCGCCCGCATAGTCGGTG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18991.hp1 NA18991.hp1	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0002 a0012c0019t0002	a0012c0019t0002g0066 a0012c0019t0002g0066	1	400	0.0025	-18	c.145 others(27): Show c.1456_1473delCACCGACTATGCGGGCGC	p.His others(13): Show p.His486_Arg491del	SCARF2	ENSG00000244486.9	transcript	ENST00000622235.5	protein_coding	9/11	1544/3463	1456/2601	486/866			chr22	TogoVar
SCART1_chr10_133448945_133474760	133464277	GTGCAGTG others(11): Show GTGCAGTGAACCTGGGTGC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0141 a0002c0002t0002g0141	1	431	0.0023	-18	c.197 others(35): Show c.1970-313_1970-296delTGCTGCAGTGAACCTGGG		SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr10	TogoVar
SCART1_chr10_133448945_133474760	133474605	ATTCTCCA others(11): Show ATTCTCCAAAACTACCAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG03130.hp1 HG02572.hp2 HG03130.hp1	a0001 a0027 a0001 a0027	a0001c0001 a0027c0033 a0001c0001 a0027c0033	a0001c0001t0005 a0027c0033t0004 a0001c0001t0005 a0027c0033t0004	a0001c0001t0005g0061 a0027c0033t0004g0053 a0001c0001t0005g0061 a0027c0033t0004g0053	2	432	0.0046	-18	c.66 others(29): Show c.6638_*6655delTTCTCCAAAACTACCAAG		SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding					4846		chr10	TogoVar
SCCPDH_chr1_246719409_246773137	246722502	AATATATA others(11): Show AATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0101 a0002c0003t0001g0101	1	36	0.0278	-18	c.-19 others(29): Show c.-1920_-1903delATATATATATATATATAT		SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding					1906		chr1	TogoVar
SCD5_chr4_82624539_82803796	82687184	AAAAAAGA others(11): Show AAAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03688.hp1 HG03831.hp1 others(2): Show HG01346.hp1 HG03688.hp1 HG03831.hp1 HG04115.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0013 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0020 a0002c0003t0021	a0001c0001t0001g0083 a0001c0001t0013g0017 a0001c0001t0013g0116 others(2): Show a0001c0001t0001g0083 a0001c0001t0013g0017 a0001c0001t0013g0116 a0001c0001t0020g0120 a0002c0003t0021g0190	5	207	0.0242	-18	c.364 others(35): Show c.364-6290_364-6273delCTTTCTTTCTTTCTTTTT		SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	2/4						chr4	TogoVar
SCD5_chr4_82624539_82803796	82712243	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03209.hp1 NA19066.hp2 HG02723.hp1 HG03209.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0015 a0001c0002t0016 a0001c0001t0002 a0001c0001t0015 a0001c0002t0016	a0001c0001t0002g0039 a0001c0001t0015g0200 a0001c0002t0016g0209 a0001c0001t0002g0039 a0001c0001t0015g0200 a0001c0002t0016g0209	3	90	0.0333	-18	c.233 others(35): Show c.233-6848_233-6831delATATATATATATATATAT		SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4						chr4	TogoVar
SCFD1_chr14_30617319_30740850	30703946	TATATATA others(11): Show TATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02027.hp1 HG02132.hp1 others(2): Show HG02015.hp1 HG02027.hp1 HG02132.hp1 HG03195.hp2 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(2): Show a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0002c0002t0001g0037	5	325	0.0154	-18	c.149 others(37): Show c.1490+1575_1490+1592delTATATATATATATAAATA		SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	17/24					INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD2_chr4_52867982_53371061	52875802	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0001t0010g0061 a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0001t0010g0061	3	22	0.1364	-18	c.196 others(37): Show c.1963-1759_1963-1742delTATATATATATATATATA		SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	8/8						chr4	TogoVar
SCFD2_chr4_52867982_53371061	52952242	GCCCCATC others(11): Show GCCCCATCCCCTCTCACAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01515.hp2 others(1): Show HG00140.hp2 HG00735.hp2 HG01515.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0005t0004 a0001c0001t0001 a0001c0001t0004 a0001c0005t0004	a0001c0001t0001g0085 a0001c0001t0004g0089 a0001c0005t0004g0030 others(1): Show a0001c0001t0001g0085 a0001c0001t0004g0089 a0001c0005t0004g0030 a0001c0005t0004g0033	4	159	0.0252	-18	c.156 others(39): Show c.1562-31390_1562-31373delGTGTGAGAGGGGATGGGG		SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8						chr4	TogoVar
SCFD2_chr4_52867982_53371061	53188418	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02976.hp2 HG02109.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0088 a0001c0001t0001g0101	2	40	0.0500	-18	c.131 others(39): Show c.1312-42854_1312-42837delACACACACACACACACAC		SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8						chr4	TogoVar
SCG3_chr15_51676503_51726026	51704240	CATACATA others(11): Show CATACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01891.hp1 HG02074.hp1 others(5): Show HG01257.hp2 HG01891.hp1 HG02074.hp1 HG02615.hp2 NA18998.hp1 NA19002.hp2 NA19085.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009	a0001c0002t0001g0047 a0001c0002t0001g0299 a0001c0002t0001g0304 others(5): Show a0001c0002t0001g0047 a0001c0002t0001g0299 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0307 a0001c0002t0004g0038 a0001c0002t0009g0296 a0001c0002t0009g0297	8	324	0.0247	-18	c.120 others(37): Show c.1207+3000_1207+3017delCATATATATATATATATA		SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51709695	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	355	0.0028	-18	c.120 others(37): Show c.1208-3636_1208-3619delATATATTTTTTTTTTTTT		SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32663032	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(62): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00558.hp1 HG00597.hp1 HG00642.hp1 HG00733.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01361.hp1 HG01516.hp2 HG01891.hp2 HG02027.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp2 HG02135.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02970.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04228.hp2 NA18747.hp1 NA18945.hp1 NA18946.hp2 NA18955.hp1 NA18968.hp2 NA18980.hp2 NA18986.hp1 NA18988.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19043.hp1 NA19072.hp2 NA19078.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0018 others(60): Show a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0222 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0312 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0343 a0001c0001t0001g0352 a0001c0001t0001g0366 a0001c0001t0001g0377 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0002g0014 a0001c0001t0003g0271 a0001c0001t0006g0044	65	179	0.3631	-18	c.227 others(37): Show c.227-16704_227-16687delTATATATATATATATATA		SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB2A1_chr11_62203673_62218943	62209635	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	34	0.0294	-18	c.56- others(31): Show c.56-752_56-735delGTGTGTGTGTGTGTGTGT		SCGB2A1	ENSG00000124939.6	transcript	ENST00000244930.6	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGB2B2_chr19_34585644_34682159	34594652	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02486.hp2 others(4): Show HG01109.hp1 HG02145.hp2 HG02486.hp2 HG03098.hp2 HG03139.hp1 HG03471.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0047 a0001c0001t0051 others(2): Show a0001c0001t0040 a0001c0001t0047 a0001c0001t0051 a0001c0001t0101 a0001c0001t0109	a0001c0001t0040g0213 a0001c0001t0040g0214 a0001c0001t0047g0319 others(4): Show a0001c0001t0040g0213 a0001c0001t0040g0214 a0001c0001t0047g0319 a0001c0001t0047g0320 a0001c0001t0051g0016 a0001c0001t0101g0265 a0001c0001t0109g0267	7	49	0.1429	-18	c.-10 others(26): Show c.-107_-90delACACACACACACACACAC		SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	2/4				90		chr19	TogoVar
SCGB2B2_chr19_34585644_34682159	34645525	GACACACA others(11): Show GACACACACAGACACAGAC	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02717.hp1 HG03669.hp1 others(2): Show HG02056.hp1 HG02717.hp1 HG03669.hp1 NA19058.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0020 others(2): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0020 a0001c0001t0037 a0001c0001t0107	a0001c0001t0008g0138 a0001c0001t0009g0132 a0001c0001t0020g0151 others(2): Show a0001c0001t0008g0138 a0001c0001t0009g0132 a0001c0001t0020g0151 a0001c0001t0037g0201 a0001c0001t0107g0300	5	250	0.0200	-18	c.-20 others(41): Show c.-2032+30087_-2032+30104delGTCTGTGTCTGTGTGTGT		SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3						chr19	TogoVar
SCHIP1_chr3_159268244_159902359	159297126	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02965.hp2 others(1): Show HG02055.hp1 HG02055.hp2 HG02965.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0001t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0005g0080 others(1): Show a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0005g0080 a0001c0002t0001g0082	4	8	0.5000	-18	c.63+ others(35): Show c.63+23267_63+23284delGTGTGTGTGTGTGTGTGT		SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159432286	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	42	0.0238	-18	c.63+ others(37): Show c.63+158440_63+158457delTGTGTGTGTGTGTGTGTG		SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159553967	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	26	0.0385	-18	c.64- others(37): Show c.64-210441_64-210424delGTGTGTGTGTGTGTGTGT		SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159713224	GAAAGAAA others(11): Show GAAAGAAAGGAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	100	0.0100	-18	c.64- others(35): Show c.64-51217_64-51200delAAGAAAGGAAGAAAGAAA		SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159750257	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02145.hp2 NA19007.hp1 HG01978.hp1 HG02145.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0002t0001g0048 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0002t0001g0048	3	49	0.0612	-18	c.64- others(35): Show c.64-14184_64-14167delGTGTGTATATATATATAT		SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159828370	TATATACA others(11): Show TATATACATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	97	0.0103	-18	c.760 others(37): Show c.760-37787_760-37770delCATATATATATACATATA		SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIN_chr7_12565720_12665182	12566079	ATGTTTAG others(11): Show ATGTTTAGTAACTTGCCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03540.hp2 HG01884.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0227 a0001c0001t0043g0228 a0001c0001t0043g0227 a0001c0001t0043g0228	2	370	0.0054	-18	c.-47 others(29): Show c.-4707_-4690delTGTTTAGTAACTTGCCCC		SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding					4640		chr7	TogoVar
SCIN_chr7_12565720_12665182	12569183	GACACACA others(11): Show GACACACACACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01975.hp1 HG00099.hp2 HG01975.hp1	a0002 a0011 a0002 a0011	a0002c0003 a0011c0013 a0002c0003 a0011c0013	a0002c0003t0013 a0011c0013t0009 a0002c0003t0013 a0011c0013t0009	a0002c0003t0013g0256 a0011c0013t0009g0257 a0002c0003t0013g0256 a0011c0013t0009g0257	2	78	0.0256	-18	c.-16 others(29): Show c.-1603_-1586delACACACACACACACACAC		SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding					1536		chr7	TogoVar
SCIN_chr7_12565720_12665182	12657556	ATATATAT others(11): Show ATATATATATATATATATT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0145 a0001c0001t0145	a0001c0001t0145g0041 a0001c0001t0145g0041	1	366	0.0027	-18	c.48 others(29): Show c.4843_*4860delATATATATATATATATTT		SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16				4843	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657562	ATATATAT others(11): Show ATATATATATATTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG03139.hp2 others(2): Show HG02145.hp2 HG02257.hp1 HG03139.hp2 HG03453.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0121 a0002c0002t0010 a0002c0003t0017 a0001c0001t0121 a0002c0002t0010 a0002c0003t0017	a0001c0001t0121g0201 a0002c0002t0010g0317 a0002c0003t0017g0066 others(2): Show a0001c0001t0121g0201 a0002c0002t0010g0317 a0002c0003t0017g0066 a0002c0003t0017g0231 a0002c0003t0017g0233	5	350	0.0143	-18	c.48 others(29): Show c.4849_*4866delATATATATATTTTTTTTT		SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16				4849	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657564	ATATATAT others(11): Show ATATATATATTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0167 a0001c0001t0010g0167	1	335	0.0030	-18	c.48 others(29): Show c.4851_*4868delATATATATTTTTTTTTTT		SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16				4851	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLT1_chr4_128878993_129098539	128894363	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(74): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00639.hp1 HG00642.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02080.hp2 HG02083.hp2 HG02155.hp1 HG02273.hp2 HG02523.hp2 HG02630.hp1 HG02970.hp2 HG03017.hp1 HG03139.hp1 HG03139.hp2 HG03471.hp1 HG03490.hp1 HG03540.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp2 NA18747.hp1 NA18941.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18963.hp2 NA18965.hp1 NA18970.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18990.hp2 NA18995.hp2 NA19003.hp1 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0002c0003 a0004c0013	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0008t0001 a0002c0003t0001 a0004c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(71): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0140 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0269 a0001c0002t0001g0038 a0001c0002t0001g0120 a0001c0004t0001g0113 a0001c0008t0001g0198 a0001c0008t0001g0213 a0002c0003t0001g0135 a0004c0013t0001g0211	77	84	0.9167	-18	c.183 others(37): Show c.1830-3244_1830-3227delGTGTGTGTGTGTGTGTGT		SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	18/20						chr4	TogoVar
SCLT1_chr4_128878993_129098539	129067138	ATAAGATA others(11): Show ATAAGATATATAAAGTGTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	286	0.0035	-18	c.102 others(37): Show c.102+15150_102+15167delAACACTTTATATATCTTA		SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	2/20						chr4	TogoVar
SCML2_chrX_18234313_18359688	18257924	GGGGGAAG others(11): Show GGGGGAAGGGGAGGGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0242 a0001c0001t0004g0242	1	245	0.0041	-18	c.127 others(35): Show c.1273+102_1273+119delTTTCCCCTCCCCTTCCCC		SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	10/14						chrX	TogoVar
SCML4_chr6_107697154_107829313	107778212	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0007 a0002c0007t0007	a0002c0007t0007g0031 a0002c0007t0007g0031	1	246	0.0041	-18	c.-59 others(35): Show c.-59-5844_-59-5827delATATATATTTTTTTTTTT		SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7						chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0135 a0001c0002t0010g0135	1	174	0.0057	-18	c.-59 others(35): Show c.-59-5854_-59-5837delATATATATATATATATAT		SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7						chr6	TogoVar
SCML4_chr6_107697154_107829313	107813407	TATATATA others(11): Show TATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00621.hp2 others(22): Show HG00140.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01346.hp1 HG02004.hp1 HG02698.hp2 HG03017.hp2 HG03492.hp1 HG03492.hp2 HG04115.hp1 HG04184.hp2 NA18967.hp2 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA19079.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0002t0005 a0001c0005t0017 a0002c0004t0002 a0002c0004t0006	a0001c0001t0002g0174 a0001c0001t0002g0195 a0001c0001t0002g0220 others(22): Show a0001c0001t0002g0174 a0001c0001t0002g0195 a0001c0001t0002g0220 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0240 a0001c0001t0005g0194 a0001c0001t0006g0173 a0001c0001t0006g0192 a0001c0001t0006g0197 a0001c0001t0006g0245 a0001c0001t0008g0191 a0001c0001t0008g0222 a0001c0001t0008g0225 a0001c0001t0008g0237 a0001c0001t0008g0243 a0001c0002t0002g0246 a0001c0002t0005g0166 a0001c0002t0005g0193 a0001c0002t0005g0198 a0001c0002t0005g0236 a0001c0005t0017g0196 a0001c0005t0017g0223 a0002c0004t0002g0235 a0002c0004t0006g0224	25	224	0.1116	-18	c.-60 others(37): Show c.-60+10701_-60+10718delTTATATATATATATATAT		SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7						chr6	TogoVar
SCML4_chr6_107697154_107829313	107824462	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG02647.hp2 others(4): Show HG02109.hp1 HG02630.hp2 HG02647.hp2 HG02896.hp1 NA18988.hp2 NA19054.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0008 a0001c0003t0007 a0001c0008t0008	a0001c0001t0001g0077 a0001c0001t0003g0013 a0001c0001t0004g0045 others(4): Show a0001c0001t0001g0077 a0001c0001t0003g0013 a0001c0001t0004g0045 a0001c0001t0006g0113 a0001c0002t0008g0003 a0001c0003t0007g0042 a0001c0008t0008g0114	7	9	0.7778	-18	c.-41 others(27): Show c.-414_-397delCACACACACACACACACA		SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding					150		chr6	TogoVar
SCN10A_chr3_38691807_38821217	38722424	GGTGACTG others(11): Show GGTGACTGATGGTGGGTGA	G G	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0269 a0003c0002t0002g0269	1	370	0.0027	-18	c.335 others(33): Show c.3353-30_3353-13delTCACCCACCATCAGTCAC		SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	19/27						chr3	TogoVar
SCN11A_chr3_38840764_39056944	38907349	TCTATATA others(11): Show TCTATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG03130.hp1 HG02895.hp1 HG02896.hp1 HG03130.hp1	a0001 a0001	a0001c0012 a0001c0016 a0001c0012 a0001c0016	a0001c0012t0001 a0001c0016t0001 a0001c0012t0001 a0001c0016t0001	a0001c0012t0001g0258 a0001c0012t0001g0259 a0001c0016t0001g0261 a0001c0012t0001g0258 a0001c0012t0001g0259 a0001c0016t0001g0261	3	312	0.0096	-18	c.147 others(35): Show c.1473+582_1473+599delGTGTGTGTGTATATATAG		SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	14/29						chr3	TogoVar
SCN11A_chr3_38840764_39056944	38938538	ATATATAT others(11): Show ATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0059 a0001c0001t0017g0059	1	303	0.0033	-18	c.488 others(35): Show c.488+6855_488+6872delAAAAAATATATATATATA		SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29						chr3	TogoVar
SCN1A_chr2_165980813_166133020	165989051	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 HG06807.hp2 NA19043.hp1 HG03098.hp2 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0051 a0001c0001t0021 a0001c0001t0051	a0001c0001t0021g0345 a0001c0001t0021g0346 a0001c0001t0051g0230 a0001c0001t0021g0345 a0001c0001t0021g0346 a0001c0001t0051g0230	3	354	0.0085	-18	c.21 others(29): Show c.2176_*2193delGCACACACACACACACAC		SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	29/29				2176		chr2	TogoVar
SCN1A_chr2_165980813_166133020	165990732	CCCCAGGT others(11): Show CCCCAGGTGGCATACCTGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0107 a0001c0001t0057g0107	1	354	0.0028	-18	c.49 others(27): Show c.495_*512delACAGGTATGCCACCTGGG		SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	29/29				495		chr2	TogoVar
SCN1B_chr19_35025470_35045449	35029752	CGGGGCAG others(11): Show CGGGGCAGAGGGGAGAGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 NA18522.hp1 HG02055.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0040 a0001c0003t0010g0042 a0001c0003t0010g0040 a0001c0003t0010g0042	2	401	0.0050	-18	c.-10 others(29): Show c.-1068_-1051delGGGGCAGAGGGGAGAGCT		SCN1B	ENSG00000105711.14	transcript	ENST00000262631.11	protein_coding					717		chr19	TogoVar
SCN2A_chr2_165234414_165397304	165265471	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02056.hp1 HG02074.hp1 others(8): Show HG00438.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 NA18944.hp2 NA18948.hp2 NA18956.hp2 NA18964.hp1 NA18981.hp2 NA18995.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0166 a0001c0001t0002g0156 a0001c0001t0002g0157 others(8): Show a0001c0001t0001g0166 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0010g0165 a0001c0001t0010g0253	11	77	0.1429	-18	c.-52 others(37): Show c.-52+25859_-52+25876delATATATATATATATATAT		SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165272764	TCACACAC others(11): Show TCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG00735.hp2 others(47): Show HG00639.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01358.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp2 HG01975.hp2 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02129.hp2 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03490.hp1 HG03492.hp1 HG03710.hp2 HG03831.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18961.hp1 NA19003.hp1 NA19007.hp1 NA19060.hp2 NA19086.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0010 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 a0001c0002t0001 a0001c0005t0001 a0001c0006t0002 a0001c0010t0001 a0002c0003t0001 a0002c0003t0015	a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 others(47): Show a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0347 a0001c0001t0002g0220 a0001c0001t0002g0302 a0001c0001t0002g0310 a0001c0001t0002g0313 a0001c0001t0002g0332 a0001c0001t0002g0334 a0001c0001t0002g0356 a0001c0001t0003g0349 a0001c0001t0003g0351 a0001c0001t0003g0352 a0001c0001t0003g0354 a0001c0001t0011g0338 a0001c0001t0016g0304 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0314 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0321 a0001c0005t0001g0350 a0001c0006t0002g0355 a0001c0010t0001g0260 a0002c0003t0001g0003 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0289 a0002c0003t0001g0303 a0002c0003t0001g0305 a0002c0003t0001g0306 a0002c0003t0001g0307 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0315 a0002c0003t0001g0316 a0002c0003t0001g0320 a0002c0003t0015g0257	50	67	0.7463	-18	c.-51 others(37): Show c.-51-22984_-51-22967delCACACACACACACACACA		SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2A_chr2_165234414_165397304	165306504	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp1 HG01123.hp2 others(51): Show HG00438.hp1 HG00741.hp1 HG01123.hp2 HG01243.hp2 HG01257.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG02015.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02258.hp1 HG02300.hp2 HG02523.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03491.hp2 HG03710.hp2 HG03831.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18944.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18980.hp1 NA18984.hp2 NA18988.hp2 NA18990.hp1 NA19002.hp2 NA19043.hp1 NA19056.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0008 others(1): Show a0001c0001 a0001c0007 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0001 a0001c0008t0001 a0002c0003t0001 a0002c0003t0015	a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0208 others(51): Show a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0229 a0001c0001t0001g0256 a0001c0001t0001g0333 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0347 a0001c0001t0002g0072 a0001c0001t0002g0119 a0001c0001t0002g0155 a0001c0001t0002g0199 a0001c0001t0002g0254 a0001c0001t0002g0356 a0001c0001t0003g0028 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0330 a0001c0001t0003g0349 a0001c0001t0003g0351 a0001c0001t0003g0352 a0001c0001t0003g0354 a0001c0007t0001g0179 a0001c0008t0001g0296 a0001c0008t0001g0337 a0002c0003t0001g0012 a0002c0003t0001g0037 a0002c0003t0001g0048 a0002c0003t0001g0056 a0002c0003t0001g0077 a0002c0003t0001g0090 a0002c0003t0001g0097 a0002c0003t0001g0115 a0002c0003t0001g0132 a0002c0003t0001g0138 a0002c0003t0001g0141 a0002c0003t0001g0205 a0002c0003t0001g0211 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0289 a0002c0003t0001g0303 a0002c0003t0001g0305 a0002c0003t0001g0306 a0002c0003t0001g0315 a0002c0003t0001g0316 a0002c0003t0001g0320 a0002c0003t0015g0257	54	66	0.8182	-18	c.387 others(35): Show c.387-1312_387-1295delGTGTGTGTGTGTGTGTGT		SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2B_chr11_118157806_118181639	118178887	ATTATTAT others(11): Show ATTATTATTATTATTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01123.hp2 HG02717.hp2 others(6): Show HG00558.hp1 HG01123.hp2 HG02717.hp2 HG03486.hp2 NA18948.hp2 NA18983.hp1 NA18988.hp1 NA19057.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019 a0001c0001t0025	a0001c0001t0001g0169 a0001c0001t0005g0011 a0001c0001t0005g0026 others(4): Show a0001c0001t0001g0169 a0001c0001t0005g0011 a0001c0001t0005g0026 a0001c0001t0010g0035 a0001c0001t0014g0045 a0001c0001t0019g0201 a0001c0001t0025g0173	9	429	0.0210	-18	c.-24 others(29): Show c.-2474_-2457delAAAAAATAATAATAATAA		SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding					2249		chr11	TogoVar
SCN2B_chr11_118157806_118181639	118178890	ATTATTAT others(11): Show ATTATTATTATTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02572.hp1 HG02622.hp1 others(15): Show HG01109.hp2 HG02572.hp1 HG02622.hp1 HG02723.hp1 HG02970.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19082.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0037 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061	a0001c0001t0001g0128 a0001c0001t0001g0200 a0001c0001t0003g0168 others(12): Show a0001c0001t0001g0128 a0001c0001t0001g0200 a0001c0001t0003g0168 a0001c0001t0003g0206 a0001c0001t0005g0011 a0001c0001t0008g0025 a0001c0001t0011g0204 a0001c0001t0013g0030 a0001c0001t0016g0050 a0001c0001t0020g0196 a0001c0001t0021g0166 a0001c0001t0037g0205 a0001c0001t0058g0199 a0001c0001t0060g0207 a0001c0001t0061g0210	18	399	0.0451	-18	c.-24 others(29): Show c.-2477_-2460delAAAAAAAAATAATAATAA		SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding					2252		chr11	TogoVar
SCN2B_chr11_118157806_118181639	118178893	ATTATTAT others(11): Show ATTATTATTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG03209.hp2 HG02717.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0065 a0001c0001t0027 a0001c0001t0065	a0001c0001t0027g0203 a0001c0001t0065g0208 a0001c0001t0027g0203 a0001c0001t0065g0208	2	364	0.0055	-18	c.-24 others(29): Show c.-2480_-2463delAAAAAAAAAAAATAATAA		SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding					2255		chr11	TogoVar
SCN2B_chr11_118157806_118181639	118178896	ATTATTTT others(11): Show ATTATTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0167 a0001c0001t0056g0167	1	282	0.0035	-18	c.-24 others(29): Show c.-2483_-2466delAAAAAAAAAAAAAAATAA		SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding					2258		chr11	TogoVar
SCN3A_chr2_165082526_165209050	165111484	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01261.hp1 HG02055.hp2 others(9): Show HG01081.hp1 HG01261.hp1 HG02055.hp2 HG02572.hp2 HG02723.hp1 HG02965.hp2 HG02970.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0002c0033	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0009t0005 a0001c0009t0007 a0002c0033t0004	a0001c0001t0001g0068 a0001c0001t0001g0161 a0001c0001t0001g0169 others(9): Show a0001c0001t0001g0068 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0002g0042 a0001c0002t0001g0072 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0009t0005g0303 a0001c0009t0005g0304 a0001c0009t0007g0299 a0001c0009t0007g0300 a0002c0033t0004g0011	12	22	0.5455	-18	c.384 others(37): Show c.3843+1383_3843+1400delGTGTGTGTGTGTGTGTGT		SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding	21/27						chr2	TogoVar
SCN3A_chr2_165082526_165209050	165146378	ATATATGT others(11): Show ATATATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0250 a0001c0003t0001g0250	1	244	0.0041	-18	c.167 others(35): Show c.1671+343_1671+360delCACACACACACACATATA		SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding	12/27						chr2	TogoVar
SCN3A_chr2_165082526_165209050	165156512	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0236 a0001c0002t0001g0236	1	26	0.0385	-18	c.103 others(35): Show c.1032-627_1032-610delTTTTTTTTTTTTTTTTTT		SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding	9/27						chr2	TogoVar

Search by Variant

Search

Search Results