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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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
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0288 a0001c0001t0011g0288	1	306	0.0033	27	c.98+ others(44): Show c.98+36510_98+36511insATATATATATATATTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	306	0.0033	27	c.98+ others(44): Show c.98+36510_98+36511insATATATATATATATATTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0043 a0001c0001t0027g0043	1	306	0.0033	27	c.98+ others(44): Show c.98+36510_98+36511insATATATATATATATATATATTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0217 a0002c0002t0001g0217	1	306	0.0033	27	c.98+ others(44): Show c.98+36510_98+36511insATATATATATATATATATATATTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0082 a0002c0002t0082	a0002c0002t0082g0268 a0002c0002t0082g0268	1	306	0.0033	27	c.98+ others(44): Show c.98+36510_98+36511insATATATATATATATATATATATATTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78460808	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0326 a0001c0001t0003g0326	1	332	0.0030	27	c.852 others(44): Show c.852+1446_852+1447insTTTCTTTCTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460812	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0310 a0001c0001t0014g0310	1	332	0.0030	27	c.852 others(44): Show c.852+1450_852+1451insTTTCTTTCTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAPER_chr15_76342904_76910340	76488714	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01978.hp2 HG02647.hp2 HG00738.hp2 HG01978.hp2 HG02647.hp2	a0001 a0002 a0001 a0002	a0001c0014 a0002c0002 a0001c0014 a0002c0002	a0001c0014t0001 a0002c0002t0002 a0001c0014t0001 a0002c0002t0002	a0001c0014t0001g0185 a0002c0002t0002g0267 a0002c0002t0002g0271 a0001c0014t0001g0185 a0002c0002t0002g0267 a0002c0002t0002g0271	3	312	0.0096	27	c.295 others(48): Show c.2954+16118_2954+16144dupAAAAAAAAAAAAAAAAAAAAAAAA AAA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76667650	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0192 a0003c0003t0002g0192	1	312	0.0032	27	c.250 others(46): Show c.2509-1862_2509-1861insGTTTTTTTTTTTTTTTTTTTTTTTTT T	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	20/31			chr15	TogoVar
SCAP_chr3_47408681_47480941	47473080	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp2 HG02630.hp1 others(4): Show HG02080.hp1 HG02080.hp2 HG02630.hp1 HG04228.hp1 NA19010.hp1 NA19055.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0048 a0001c0001t0001g0176 a0001c0001t0001g0177 others(4): Show a0001c0001t0001g0048 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0272 a0001c0001t0001g0283 a0001c0001t0003g0273 a0001c0001t0003g0274	7	304	0.0230	27	c.-99 others(44): Show c.-99+2718_-99+2719insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCARA5_chr8_27864883_27997673	27918902	G G	GAGGAGGA others(20): Show GAGGAGGAGGAAGATGAGGAGGAGGTGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03195.hp1 HG02145.hp1 HG03195.hp1	a0001 a0003 a0001 a0003	a0001c0009 a0003c0011 a0001c0009 a0003c0011	a0001c0009t0011 a0003c0011t0034 a0001c0009t0011 a0003c0011t0034	a0001c0009t0011g0122 a0003c0011t0034g0140 a0001c0009t0011g0122 a0003c0011t0034g0140	2	314	0.0064	27	c.916 others(44): Show c.916+2668_916+2669insTCACCTCCTCCTCATCTTCCTCCTCCT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918940	G G	GGGGAAGG others(20): Show GGGGAAGGAGGAGGGGAAGGAGGAGGAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01261.hp1 HG00738.hp2 HG01261.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0003c0014 a0001c0007 a0003c0014	a0001c0007t0001 a0003c0014t0029 a0001c0007t0001 a0003c0014t0029	a0001c0007t0001g0117 a0003c0014t0029g0017 a0001c0007t0001g0117 a0003c0014t0029g0017	2	314	0.0064	27	c.916 others(44): Show c.916+2630_916+2631insTTCCTCCTCCTTCCCCTCCTCCTTCCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918942	G G	GGAAGGAG others(20): Show GGAAGGAGGAGGGGAAGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02015.hp2 HG01192.hp1 HG02015.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0010 a0001c0004 a0002c0010	a0001c0004t0003 a0002c0010t0055 a0001c0004t0003 a0002c0010t0055	a0001c0004t0003g0213 a0002c0010t0055g0247 a0001c0004t0003g0213 a0002c0010t0055g0247	2	314	0.0064	27	c.916 others(44): Show c.916+2628_916+2629insTCCTCCTCCTCCTTCCCCTCCTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01891.hp1 NA18983.hp1 others(1): Show HG00544.hp1 HG01891.hp1 NA18983.hp1 NA19088.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0002c0001 a0003c0005	a0002c0001t0001 a0002c0001t0003 a0003c0005t0002 a0002c0001t0001 a0002c0001t0003 a0003c0005t0002	a0002c0001t0001g0006 a0002c0001t0003g0298 a0003c0005t0002g0041 a0002c0001t0001g0006 a0002c0001t0003g0298 a0003c0005t0002g0041	4	356	0.0112	27	c.169 others(44): Show c.1692-913_1692-912insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD2_chr4_52867982_53371061	52959897	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	162	0.0062	27	c.156 others(48): Show c.1562-39028_1562-39027insGTGTGTGTGTGTGTGTGTGTGTGT GTG	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCGB1C1_chr11_188078_199575	196578	C C	CTGGTGAG others(20): Show CTGGTGAGGGGACATGGTGAGGGGAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02486.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0001 a0001c0004t0002g0001	2	354	0.0057	27	c.21 others(38): Show c.2128_*2129insTGGTGAGGGGACATGGTGAGGGGAGCA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		2004		chr11	TogoVar
SCGB1C2_chr17_132569_144067	140958	T T	TTGGTGAG others(20): Show TTGGTGAGGGGACCTGGTGAGGAGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02523.hp2 HG03942.hp1 others(2): Show HG02451.hp2 HG02523.hp2 HG03942.hp1 NA18951.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0004 a0001c0001t0002g0008	5	402	0.0124	27	c.20 others(38): Show c.2016_*2017insTGGTGAGGGGACCTGGTGAGGAGGACC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1892		chr17	TogoVar
SCGB1C2_chr17_132569_144067	141484	C C	CTGGTGAG others(20): Show CTGGTGAGGAGGACATGGGGGGGGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02523.hp2 HG02056.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0006 a0001c0001t0002g0008	2	402	0.0050	27	c.25 others(38): Show c.2542_*2543insTGGTGAGGAGGACATGGGGGGGGACCT	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2418		chr17	TogoVar
SCHIP1_chr3_159268244_159902359	159842997	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03540.hp2 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0055 a0001c0001t0001g0073	2	100	0.0200	27	c.760 others(46): Show c.760-23163_760-23162insTTTTTTTTTTTTTTTTTTTTTTTTTT T	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159843001	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03130.hp2 NA19058.hp1 HG02886.hp2 HG03130.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0007 a0001c0001t0001g0081 a0001c0001t0001g0088	3	100	0.0300	27	c.760 others(46): Show c.760-23160_760-23134dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159867970	G G	GTGATTTA others(20): Show GTGATTTATATATATATATATAAATCAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01978.hp2 HG02027.hp2 others(5): Show HG01167.hp1 HG01978.hp2 HG02027.hp2 HG02965.hp2 HG02976.hp2 HG03579.hp1 NA19007.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0065 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0098 a0001c0001t0005g0080 a0001c0002t0001g0086 a0002c0003t0001g0091	8	100	0.0800	27	c.878 others(44): Show c.878+1707_878+1733dupTATAAATCAATGATTTATATATATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03516.hp2 NA19030.hp2 others(1): Show HG02630.hp1 HG03516.hp2 NA19030.hp2 NA20300.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0002c0003 a0011c0013 a0002c0002 a0002c0003 a0011c0013	a0002c0002t0049 a0002c0002t0242 a0002c0003t0099 others(1): Show a0002c0002t0049 a0002c0002t0242 a0002c0003t0099 a0011c0013t0043	a0002c0002t0049g0247 a0002c0002t0242g0248 a0002c0003t0099g0239 others(1): Show a0002c0002t0049g0247 a0002c0002t0242g0248 a0002c0003t0099g0239 a0011c0013t0043g0238	4	372	0.0108	27	c.354 others(42): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12657572	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01993.hp2 HG03688.hp1 HG01993.hp2 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0136 a0002c0003t0233 a0002c0002t0136 a0002c0003t0233	a0002c0002t0136g0271 a0002c0003t0233g0256 a0002c0002t0136g0271 a0002c0003t0233g0256	2	372	0.0054	27	c.48 others(38): Show c.4858_*4859insATATATATATATATATATATTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16	4859	INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLT1_chr4_128878993_129098539	128975040	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	288	0.0035	27	c.687 others(44): Show c.687-4573_687-4572insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	9/20			chr4	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0028 a0002c0004t0006g0028	1	250	0.0040	27	c.-59 others(44): Show c.-59-5837_-59-5836insATATTTTTTTTTTTTTTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0128 a0001c0001t0014g0128	1	250	0.0040	27	c.-59 others(44): Show c.-59-5837_-59-5836insATATATATATATATATATATATTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN11A_chr3_38840764_39056944	38950064	C C	CCCCACCC others(20): Show CCCCACCCCCCCCCCCACCCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0294 a0001c0006t0006g0294	1	314	0.0032	27	c.267 others(40): Show c.267+31_267+32insTGGGGGGGGGGTGGGGGGGGGGGTGGG	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	5/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	39047018	G G	GCCCCCCA others(20): Show GCCCCCCACCCCCCACCCCCACCCCCAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp1 HG00639.hp2 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0204 a0001c0002t0002g0205	2	314	0.0064	27	c.-40 others(46): Show c.-404+4816_-404+4842dupATGGGGGTGGGGGTGGGGGGTGGGGG G	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	1/29			chr3	TogoVar
SCN1B_chr19_35025470_35045449	35042575	C C	CTTTGCTT others(20): Show CTTTGCTTGCTAGCGCCCTCGTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	404	0.0025	27	c.27 others(38): Show c.2784_*2785insTTTGCTTGCTAGCGCCCTCGTCCTTCT	SCN1B	ENSG00000105711.14	transcript	ENST00000262631.11	protein_coding		2127		chr19	TogoVar
SCN8A_chr12_51586233_51817864	51811297	A A	ATCCCCAC others(20): Show ATCCCCACTCACCCATTGCATGTGGCAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0155 a0001c0001t0019g0155	1	202	0.0050	27	c.38 others(38): Show c.3877_*3903dupCACCCATTGCATGTGGCATTCCCCACT	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	27/27	3904	INFO_REALIGN_3_PRIME	chr12	TogoVar
SCN9A_chr2_166190185_166380944	166313008	T T	TTAAATAA others(20): Show TTAAATAATATAGTTATTTAATTTTCTG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02615.hp1 HG02976.hp2 others(7): Show HG02523.hp2 HG02615.hp1 HG02976.hp2 HG03139.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18973.hp2 NA19005.hp1 NA19011.hp2	a0001 a0005 a0024 a0001 a0005 a0024	a0001c0002 a0001c0003 a0001c0007 others(2): Show a0001c0002 a0001c0003 a0001c0007 a0005c0027 a0024c0047	a0001c0002t0010 a0001c0002t0021 a0001c0003t0010 others(5): Show a0001c0002t0010 a0001c0002t0021 a0001c0003t0010 a0001c0003t0014 a0001c0003t0015 a0001c0007t0005 a0005c0027t0020 a0024c0047t0005	a0001c0002t0010g0007 a0001c0002t0021g0011 a0001c0003t0010g0003 others(7): Show a0001c0002t0010g0007 a0001c0002t0021g0011 a0001c0003t0010g0003 a0001c0003t0010g0006 a0001c0003t0010g0008 a0001c0003t0014g0009 a0001c0003t0015g0063 a0001c0007t0005g0073 a0005c0027t0020g0004 a0024c0047t0005g0072	10	296	0.0338	27	c.-50 others(44): Show c.-50-1203_-50-1202insCAGAAAATTAAATAACTATATTATTTA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23365620	A A	AGAAAGAG others(20): Show AGAAAGAGAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	306	0.0033	27	c.777 others(44): Show c.777-2236_777-2235insGAAAGAGAGAGAAAGAAAGAAAGAAAG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12			chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23365620	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02602.hp1 others(1): Show HG01168.hp1 HG01169.hp1 HG02602.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0182 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0182 a0001c0002t0001g0166	4	306	0.0131	27	c.777 others(44): Show c.777-2236_777-2235insGAGAGAGAGAGAAAGAAAGAAAGAAAG	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12			chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1289847	G G	GTCTCTGC others(20): Show GTCTCTGCTCCGTCCCCCGTGTCTCTGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0069 a0002c0003t0001g0069	1	290	0.0035	27	c.166 others(44): Show c.1663-422_1663-421insTCTGCTCCGTCCCCCGTGTCTCTGCTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289848	T T	TCTCTGCC others(20): Show TCTCTGCCCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA19081.hp2 HG02004.hp1 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0094 a0002c0002t0001g0023 a0002c0002t0001g0094	2	290	0.0069	27	c.166 others(44): Show c.1663-422_1663-421insTCTGCCCCGTCCCCCGTGTCTCTGCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23180597	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 NA18956.hp2 HG02738.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0234 a0001c0001t0001g0124 a0001c0001t0001g0234	2	320	0.0063	27	c.-22 others(38): Show c.-2261_-2260insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding		2147		chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23181635	G G	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0312 a0001c0002t0004g0312	1	320	0.0031	27	c.-12 others(38): Show c.-1223_-1222insAAAGAAAGAAAGAAAGAAAGAAAGAAA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding		1109		chr16	TogoVar
SCUBE1_chr22_43192280_43348372	43280490	T T	TCCTCCTG others(20): Show TCCTCCTGTCCCTTCCCCTCACCCATCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01123.hp1 others(10): Show HG00642.hp1 HG00735.hp2 HG01123.hp1 HG01123.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01928.hp1 HG01978.hp1 HG01993.hp1 HG02148.hp2 HG03017.hp2 HG04115.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0003c0001 a0004c0047 a0001c0003 a0003c0001 a0004c0047	a0001c0003t0003 a0003c0001t0001 a0004c0047t0066 a0001c0003t0003 a0003c0001t0001 a0004c0047t0066	a0001c0003t0003g0035 a0001c0003t0003g0037 a0001c0003t0003g0050 others(10): Show a0001c0003t0003g0035 a0001c0003t0003g0037 a0001c0003t0003g0050 a0001c0003t0003g0055 a0001c0003t0003g0077 a0001c0003t0003g0213 a0001c0003t0003g0216 a0001c0003t0003g0222 a0003c0001t0001g0053 a0003c0001t0001g0059 a0003c0001t0001g0206 a0003c0001t0001g0214 a0004c0047t0066g0058	13	280	0.0464	27	c.484 others(46): Show c.484+10555_484+10556insGGATGGGTGAGGGGAAGGGACAGGAG G	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280494	C C	CCTGTCCC others(20): Show CCTGTCCCTTCCCCTCACCCATCCCCCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0051 a0003c0001t0051	a0003c0001t0051g0142 a0003c0001t0051g0142	1	280	0.0036	27	c.484 others(46): Show c.484+10551_484+10552insAGGGGGATGGGTGAGGGGAAGGGACA G	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281195	C C	CTTGGCCA others(20): Show CTTGGCCACCCTCCTGTCACCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0087 a0003c0001t0001g0088 a0003c0001t0001g0087 a0003c0001t0001g0088	2	280	0.0071	27	c.484 others(44): Show c.484+9850_484+9851insAGAGGGAGGTGACAGGAGGGTGGCCAA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281514	A A	AGCCATCC others(20): Show AGCCATCCTCCTGTCACCTCCCTCTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01192.hp1 HG01496.hp2 others(1): Show HG00099.hp1 HG01192.hp1 HG01496.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0003c0001 a0001c0003 a0002c0002 a0003c0001	a0001c0003t0003 a0002c0002t0002 a0003c0001t0001 a0001c0003t0003 a0002c0002t0002 a0003c0001t0001	a0001c0003t0003g0141 a0002c0002t0002g0069 a0002c0002t0002g0152 others(1): Show a0001c0003t0003g0141 a0002c0002t0002g0069 a0002c0002t0002g0152 a0003c0001t0001g0143	4	280	0.0143	27	c.484 others(44): Show c.484+9531_484+9532insCAAAGAGGGAGGTGACAGGAGGATGGC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0091 a0002c0002t0001g0091	1	358	0.0028	27	c.120 others(44): Show c.1208-967_1208-966insAAATATATATATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02523.hp1 HG03017.hp2 HG00558.hp2 HG02523.hp1 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002	a0001c0001t0004g0268 a0002c0002t0001g0083 a0002c0002t0002g0056 a0001c0001t0004g0268 a0002c0002t0001g0083 a0002c0002t0002g0056	3	358	0.0084	27	c.120 others(44): Show c.1208-967_1208-966insAAAAATATATATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18985.hp2 HG02922.hp1 NA18985.hp2	a0009 a0011 a0009 a0011	a0009c0031 a0011c0017 a0009c0031 a0011c0017	a0009c0031t0005 a0011c0017t0004 a0009c0031t0005 a0011c0017t0004	a0009c0031t0005g0212 a0011c0017t0004g0295 a0009c0031t0005g0212 a0011c0017t0004g0295	2	358	0.0056	27	c.120 others(44): Show c.1208-967_1208-966insAAAAAAATATATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054726	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	358	0.0028	27	c.120 others(44): Show c.1208-968_1208-967insTATATATATATATATATATATATATAT	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCYL1_chr11_65520083_65543704	65524863	G G	GCCCCCCC others(20): Show GCCCCCCCCATCCCCGCCCCTCCCTAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	278	0.0036	27	c.-29 others(36): Show c.-291_-290insCCCCCCCCATCCCCGCCCCTCCCTAGC	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding		219		chr11	TogoVar
SDAD1_chr4_75944915_75995945	75978982	G G	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	376	0.0027	27	c.295 others(44): Show c.295-1253_295-1227dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding	3/21			chr4	TogoVar
SDC2_chr8_96488813_96616790	96565097	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	334	0.0030	27	c.61- others(44): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTGTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC3_chr1_30864466_30913758	30897590	C C	CCCAGCAA others(20): Show CCCAGCAAGGCCTGATTGGCCCTACATT	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA19060.hp2 HG02129.hp2 NA19060.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0004 a0001c0001t0002 a0003c0003t0004	a0001c0001t0002g0253 a0003c0003t0004g0043 a0001c0001t0002g0253 a0003c0003t0004g0043	2	386	0.0052	27	c.138 others(46): Show c.138+10832_138+10858dupAATGTAGGGCCAATCAGGCCTTGCTG G	SDC3	ENSG00000162512.16	transcript	ENST00000339394.7	protein_coding	1/4			chr1	TogoVar
SDHAF1_chr19_35990188_36001312	35990823	G G	GGAAGGAG others(20): Show GGAAGGAGGAAGGAGGAAGAAGGAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA19001.hp1 NA18940.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	392	0.0051	27	c.-44 others(38): Show c.-4452_-4451insGAAGGAGGAAGGAGGAAGAAGGAGGAA	SDHAF1	ENSG00000205138.4	transcript	ENST00000378887.4	protein_coding		4364		chr19	TogoVar

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Search Results (Total: 7463 hits)