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
SARDH_chr9_133658560_133743352	133669275	A A	ACCCTCCC others(16): Show ACCCTCCCTCTCCCCTTACCCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0007 a0007	a0007c0038 a0007c0038	a0007c0038t0001 a0007c0038t0001	a0007c0038t0001g0090 a0007c0038t0001g0090	1	262	0.0038	23	c.249 others(42): Show c.2495+1308_2495+1309insGGAGGGTAAGGGGAGAGGGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARNP_chr12_55752270_55822724	55774558	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	276	0.0036	23	c.502 others(42): Show c.502-13919_502-13918insTTTTTTTTTTTTTTTTTTTTTTT	SARNP	ENSG00000205323.9	transcript	ENST00000336133.8	protein_coding	9/10			chr12	TogoVar
SARS2_chr19_38910266_38935763	38927900	G G	GAAACGAG others(16): Show GAAACGAGAGAGATACACACAGAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0107 a0001c0001t0005g0107	1	420	0.0024	23	c.268 others(40): Show c.268-1601_268-1600insGTCTGTGTGTATCTCTCTCGTTT	SARS2	ENSG00000104835.15	transcript	ENST00000221431.11	protein_coding	1/15			chr19	TogoVar
SASH1_chr6_148337838_148557044	148449074	A A	ATTTCATT others(16): Show ATTTCATTTCTTTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0002 a0006c0012t0002	a0006c0012t0002g0283 a0006c0012t0002g0283	1	322	0.0031	23	c.386 others(40): Show c.386+8671_386+8672insATTTCTTTTTCTTTTTTTTTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0196 a0002c0002t0003g0196	1	322	0.0031	23	c.386 others(40): Show c.386+8686_386+8687insTTTTTTTTTTTTTTTTTTTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH3_chrX_129774949_129800201	129789109	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	307	0.0033	23	c.300 others(38): Show c.300+534_300+535insGAAAGAAAGAAAGAAAGAAAGAA	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SASH3_chrX_129774949_129800201	129789168	A A	AGAAAGAA others(16): Show AGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	307	0.0033	23	c.300 others(38): Show c.300+591_300+592insGAAAGAAAGAAAGAAAGAAAGAG	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7			chrX	TogoVar
SATB1_chr3_18340377_18430339	18344358	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 NA18969.hp1 HG00408.hp1 NA18969.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0015	a0001c0005t0015g0014 a0001c0005t0015g0014	2	352	0.0057	23	c.47 others(34): Show c.4789_*4811dupAAAAAAAAAAAAAAAAAAAAAAA	SATB1	ENSG00000182568.18	transcript	ENST00000338745.11	protein_coding		1018		chr3	TogoVar
SATL1_chrX_85087284_85248779	85118087	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03516.hp1 NA18993.hp2 HG02572.hp1 HG03516.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0225 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0225	3	232	0.0129	23	c.-31 others(42): Show c.-312-8808_-312-8807insAAAAAAAAAAAAAAAAAAAAAAA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SBF2_chr11_9773668_10299219	10166989	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	224	0.0045	23	c.141 others(42): Show c.141+26912_141+26913insGTGTGTGTGTGTGTGTGTGTGTG	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0192 a0001c0001t0005g0192	1	224	0.0045	23	c.56- others(38): Show c.56-2880_56-2879insAAAAAAAAAAAAATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBNO1_chr12_123284109_123369847	123297400	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA19012.hp1 HG03654.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0163 a0001c0001t0001g0125 a0001c0001t0001g0163	2	260	0.0077	23	c.403 others(40): Show c.4039+577_4039+578insTTTTTTTTTTTTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123307020	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0248 a0001c0002t0003g0248	1	260	0.0039	23	c.363 others(42): Show c.3630+2289_3630+2290insTTTTTTTTTTTTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	28/31			chr12	TogoVar
SBNO2_chr19_1102638_1179268	1161261	C C	CCTGAGCA others(16): Show CCTGAGCACTGGGGGTGGGGGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00621.hp2 others(2): Show HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 NA18983.hp1	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0009 a0001c0001 a0002c0003 a0000c0009 a0001c0001 a0002c0003	a0000c0009t0001 a0001c0001t0001 a0002c0003t0001 a0000c0009t0001 a0001c0001t0001 a0002c0003t0001	a0000c0009t0001g0053 a0001c0001t0001g0096 a0001c0001t0001g0100 others(2): Show a0000c0009t0001g0053 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0002c0003t0001g0041	5	203	0.0246	23	c.-12 others(42): Show c.-126-6860_-126-6859insACACCCCCACCCCCAGTGCTCAG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067607	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03098.hp1 HG02622.hp1 HG03098.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0006	a0006c0007t0006g0020 a0006c0007t0006g0020	2	414	0.0048	23	c.678 others(38): Show c.678-150_678-149insATATATATATATATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAF1_chr19_49637209_49663642	49660028	C C	CACACACA others(16): Show CACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	382	0.0026	23	c.16 others(34): Show c.1629_*1630insACACACACACACACACACACACA	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1387		chr19	TogoVar
SCAF4_chr21_31666000_31737118	31688114	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	352	0.0028	23	c.204 others(40): Show c.2043+170_2043+192dupTTTTTTTTTTTTTTTTTTTTTTT	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding	16/19			chr21	TogoVar
SCAF8_chr6_154728416_154839221	154733224	G G	GCGAGGCG others(16): Show GCGAGGCGCGGGCGGCCCCGGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	282	0.0036	23	c.-67 others(32): Show c.-677_-676insCGAGGCGCGGGCGGCCCCGGAGC	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding		191		chr6	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19005.hp1 HG02523.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0163 a0001c0001t0003g0157 a0001c0001t0003g0163	2	306	0.0065	23	c.98+ others(40): Show c.98+36510_98+36511insATATATATTTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18966.hp1 HG01081.hp2 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0248 a0002c0002t0001g0227 a0002c0002t0001g0248	2	306	0.0065	23	c.98+ others(40): Show c.98+36510_98+36511insATATATATATTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19005.hp2 HG02056.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0001 a0001c0001t0007 a0002c0002t0001	a0001c0001t0007g0290 a0002c0002t0001g0242 a0001c0001t0007g0290 a0002c0002t0001g0242	2	306	0.0065	23	c.98+ others(40): Show c.98+36510_98+36511insATATATATATATTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01074.hp2 HG01884.hp1 others(1): Show HG01071.hp1 HG01074.hp2 HG01884.hp1 HG02129.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0041 a0002c0002t0001 a0002c0002t0014 a0001c0006t0041 a0002c0002t0001 a0002c0002t0014	a0001c0006t0041g0135 a0002c0002t0001g0256 a0002c0002t0001g0273 others(1): Show a0001c0006t0041g0135 a0002c0002t0001g0256 a0002c0002t0001g0273 a0002c0002t0014g0234	4	306	0.0131	23	c.98+ others(40): Show c.98+36510_98+36511insATATATATATATATTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0218 a0002c0002t0001g0218	1	306	0.0033	23	c.98+ others(40): Show c.98+36510_98+36511insATATATATATATATATTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0266 a0002c0002t0001g0266	1	306	0.0033	23	c.98+ others(40): Show c.98+36510_98+36511insATATATATATATATATATTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78460792	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0306 a0001c0001t0003g0306	1	332	0.0030	23	c.852 others(40): Show c.852+1430_852+1431insTTTCTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460800	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0303 a0001c0001t0003g0303	1	332	0.0030	23	c.852 others(40): Show c.852+1438_852+1439insTTTCTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460804	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03098.hp1 NA19090.hp1 HG02056.hp1 HG03098.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0268 a0001c0001t0003g0286 a0001c0001t0003g0323 a0001c0001t0003g0268 a0001c0001t0003g0286 a0001c0001t0003g0323	3	332	0.0090	23	c.852 others(40): Show c.852+1442_852+1443insTTTCTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460808	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18988.hp2 NA18968.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0318 a0001c0001t0014g0293 a0001c0001t0003g0318 a0001c0001t0014g0293	2	332	0.0060	23	c.852 others(40): Show c.852+1446_852+1447insTTTCTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 NA18970.hp2 HG00099.hp1 NA18970.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0004 a0003c0005t0003 a0001c0001t0004 a0003c0005t0003	a0001c0001t0004g0298 a0003c0005t0003g0014 a0001c0001t0004g0298 a0003c0005t0003g0014	2	386	0.0052	23	c.-14 others(34): Show c.-1407_-1406insATATATATATATTTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02523.hp2 HG01123.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0334 a0001c0001t0012g0280 a0001c0001t0003g0334 a0001c0001t0012g0280	2	386	0.0052	23	c.-14 others(34): Show c.-1407_-1406insATATATATATATATTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0294 a0001c0001t0005g0294	1	386	0.0026	23	c.-14 others(34): Show c.-1407_-1406insATATATATATATATATTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP3_chr1_155250981_155267360	155252722	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	375	0.0027	23	c.35 others(34): Show c.3550_*3551insAAAAAAATATATATATATATATA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3258		chr1	TogoVar
SCAMP4_chr19_1900399_1931013	1906865	A A	AATTGTGT others(16): Show AATTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp2 NA18967.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0036 a0001c0001t0027g0035 a0001c0001t0001g0036 a0001c0001t0027g0035	2	442	0.0045	23	c.-42 others(40): Show c.-42+1426_-42+1427insATTGTGTGTGTGTGTGTGTGTGT	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	1/6			chr19	TogoVar
SCAP_chr3_47408681_47480941	47473080	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02148.hp2 HG02451.hp1 others(8): Show HG01123.hp2 HG02148.hp2 HG02451.hp1 HG02572.hp2 HG02717.hp1 HG03492.hp1 HG03654.hp1 NA18952.hp2 NA18988.hp2 NA19001.hp2 NA19030.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0017 a0001c0001 a0011c0017	a0001c0001t0001 a0001c0001t0003 a0011c0017t0001 a0001c0001t0001 a0001c0001t0003 a0011c0017t0001	a0001c0001t0001g0003 a0001c0001t0001g0044 a0001c0001t0001g0045 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0003g0259 a0001c0001t0003g0260 a0011c0017t0001g0261	11	304	0.0362	23	c.-99 others(40): Show c.-99+2718_-99+2719insTTTTTTTTTTTTTTTTTTTTTTT	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCARA3_chr8_27628902_27678018	27668546	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	408	0.0025	23	c.137 others(42): Show c.1370-2338_1370-2337insAAAAAAAAAAAAAAAAAAAAAAA	SCARA3	ENSG00000168077.14	transcript	ENST00000301904.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
SCD5_chr4_82624539_82803796	82679211	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG06807.hp1 HG04115.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0015 a0001c0001t0001g0024	2	210	0.0095	23	c.569 others(40): Show c.569+1495_569+1496insCTTTCTCTCTTTCTTTCTTTCTT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp1 HG01496.hp2 others(3): Show HG00735.hp2 HG01071.hp1 HG01496.hp2 HG03130.hp2 NA19056.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0001 a0003c0005 a0001c0004 a0002c0001 a0003c0005	a0001c0004t0002 a0002c0001t0001 a0002c0001t0002 others(1): Show a0001c0004t0002 a0002c0001t0001 a0002c0001t0002 a0003c0005t0002	a0001c0004t0002g0112 a0001c0004t0002g0125 a0001c0004t0002g0138 others(3): Show a0001c0004t0002g0112 a0001c0004t0002g0125 a0001c0004t0002g0138 a0002c0001t0001g0307 a0002c0001t0002g0267 a0003c0005t0002g0043	6	356	0.0169	23	c.169 others(40): Show c.1692-935_1692-913dupAAAAAAAAAAAAAAAAAAAAAAA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD2_chr4_52867982_53371061	53007305	G G	GAGAGAGA others(16): Show GAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	162	0.0062	23	c.156 others(44): Show c.1562-86436_1562-86435insTCTCTCTCTCTCTCTCTCTCTCT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCHIP1_chr3_159268244_159902359	159668376	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp2 HG02723.hp2 others(1): Show HG01243.hp2 HG02486.hp2 HG02723.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0002t0001g0017 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0002t0001g0017 a0001c0002t0001g0085	4	100	0.0400	23	c.64- others(40): Show c.64-96047_64-96046insAAAAAAAAAAAAAAAAAAAAAAA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159843001	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	100	0.0100	23	c.760 others(42): Show c.760-23156_760-23134dupTTTTTTTTTTTTTTTTTTTTTTT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03225.hp2 NA18942.hp1 HG02165.hp2 HG03225.hp2 NA18942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0008 a0001c0001t0160 a0002c0003t0003 a0001c0001t0008 a0001c0001t0160 a0002c0003t0003	a0001c0001t0008g0025 a0001c0001t0160g0026 a0002c0003t0003g0234 a0001c0001t0008g0025 a0001c0001t0160g0026 a0002c0003t0003g0234	3	372	0.0081	23	c.354 others(38): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLT1_chr4_128878993_129098539	128975040	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01255.hp1 HG01934.hp2 others(22): Show HG01070.hp2 HG01255.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG02015.hp2 HG02083.hp2 HG02273.hp2 HG02280.hp2 HG03516.hp1 HG03688.hp2 NA18941.hp2 NA18948.hp1 NA18963.hp2 NA18970.hp1 NA18982.hp1 NA18983.hp1 NA19005.hp2 NA19010.hp1 NA19062.hp1 NA19064.hp2 NA19081.hp2 NA19084.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0011 a0001c0001 a0001c0008 a0001c0011	a0001c0001t0001 a0001c0008t0001 a0001c0011t0010 a0001c0001t0001 a0001c0008t0001 a0001c0011t0010	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0187 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0264 a0001c0008t0001g0198 a0001c0011t0010g0284	25	288	0.0868	23	c.687 others(40): Show c.687-4573_687-4572insAAAAAAAAAAAAAAAAAAAAAAA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	9/20			chr4	TogoVar
SCMH1_chr1_41022202_41247306	41244447	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp1 NA18950.hp1 HG00423.hp1 HG00597.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0010g0006 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0010g0006	3	304	0.0099	23	c.-25 others(34): Show c.-2507_-2506insAAAAAAAAAAAAAAAAAAAAAAA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding		2142		chr1	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02257.hp2 HG01433.hp1 HG02257.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0012 a0002c0004t0009 a0001c0003t0012 a0002c0004t0009	a0001c0003t0012g0136 a0002c0004t0009g0175 a0001c0003t0012g0136 a0002c0004t0009g0175	2	250	0.0080	23	c.-59 others(40): Show c.-59-5837_-59-5836insATATATATATATTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38736963	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0002 a0001c0031t0002	a0001c0031t0002g0002 a0001c0031t0002g0002	2	372	0.0054	23	c.228 others(42): Show c.2280+2529_2280+2551dupAAAAAAAAAAAAAAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38950066	C C	CACCCCCC others(16): Show CACCCCCCCCCCACCCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01517.hp2 HG01192.hp1 HG01517.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0292 a0001c0006t0003g0299 a0001c0006t0003g0292 a0001c0006t0003g0299	2	314	0.0064	23	c.267 others(36): Show c.267+29_267+30insTGGGGGGGGGGTGGGGGGGGGGT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	5/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38950067	C C	CACCCCCC others(16): Show CACCCCCCCCCCACCCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0313 a0001c0006t0001g0313	1	314	0.0032	23	c.267 others(36): Show c.267+28_267+29insTGGGGGGGGGGTGGGGGGGGGGT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	5/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166118298	G G	GCTTCTTT others(16): Show GCTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG02886.hp1 others(2): Show HG01891.hp1 HG02559.hp2 HG02886.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0068 a0001c0001t0006 a0001c0001t0068	a0001c0001t0006g0286 a0001c0001t0006g0289 a0001c0001t0006g0290 others(2): Show a0001c0001t0006g0286 a0001c0001t0006g0289 a0001c0001t0006g0290 a0001c0001t0006g0292 a0001c0001t0068g0288	5	356	0.0140	23	c.-14 others(42): Show c.-142+8625_-142+8626insAAAAAAAAAAAAAAAAAAAGAAG	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCN2B_chr11_118157806_118181639	118178899	A A	ATTATTAT others(16): Show ATTATTATTATTATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0232 a0001c0001t0024g0232	1	450	0.0022	23	c.-24 others(34): Show c.-2469_-2468insAAAAAAAAAAATAATAATAATAA	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding		2261		chr11	TogoVar
SCN3A_chr2_165082526_165209050	165166403	T T	TCAATTCT others(16): Show TCAATTCTGTCTATGTCACAGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00544.hp2 others(98): Show HG00140.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00642.hp1 HG00673.hp2 HG00741.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02145.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02735.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG04184.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18968.hp2 NA18978.hp2 NA18981.hp1 NA18990.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0014 a0001c0017 a0001c0026 a0001c0029 a0002c0006 a0002c0015 a0002c0032 a0002c0033 a0006c0023 a0007c0024 a0008c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0014 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0006 a0001c0004t0009 a0001c0005t0002 a0001c0011t0001 a0001c0011t0003 a0001c0014t0001 a0001c0017t0004 a0001c0026t0012 a0001c0029t0001 a0002c0006t0002 a0002c0006t0004 a0002c0006t0010 a0002c0015t0001 a0002c0032t0004 a0002c0033t0004 a0006c0023t0001 a0007c0024t0001 a0008c0021t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 others(97): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0174 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0002g0028 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0004g0019 a0001c0001t0015g0069 a0001c0002t0001g0127 a0001c0002t0002g0054 a0001c0002t0005g0308 a0001c0002t0007g0302 a0001c0002t0014g0072 a0001c0003t0001g0114 a0001c0003t0001g0118 a0001c0004t0001g0073 a0001c0004t0002g0025 a0001c0004t0002g0038 a0001c0004t0002g0042 a0001c0004t0002g0044 a0001c0004t0004g0007 a0001c0004t0006g0043 a0001c0004t0006g0045 a0001c0004t0006g0053 a0001c0004t0009g0008 a0001c0005t0002g0001 a0001c0005t0002g0037 a0001c0005t0002g0039 a0001c0005t0002g0040 a0001c0005t0002g0055 a0001c0011t0001g0089 a0001c0011t0003g0293 a0001c0011t0003g0294 a0001c0011t0003g0296 a0001c0014t0001g0171 a0001c0014t0001g0172 a0001c0017t0004g0020 a0001c0026t0012g0022 a0001c0029t0001g0128 a0002c0006t0002g0035 a0002c0006t0002g0036 a0002c0006t0004g0009 a0002c0006t0004g0011 a0002c0006t0004g0013 a0002c0006t0004g0014 a0002c0006t0004g0015 a0002c0006t0004g0017 a0002c0006t0010g0012 a0002c0015t0001g0205 a0002c0015t0001g0206 a0002c0032t0004g0016 a0002c0033t0004g0010 a0006c0023t0001g0110 a0007c0024t0001g0075 a0008c0021t0001g0102	101	314	0.3217	23	c.474 others(40): Show c.474-1884_474-1883insTTCCTGTGACATAGACAGAATTG	SCN3A	ENSG00000153253.20	transcript	ENST00000283254.12	protein_coding	5/27			chr2	TogoVar

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