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
RXRA_chr9_134321455_134445585	134326580	C C	CGCCCGCC others(20): Show CGCCCGCCGCCCGCTGCCTGCGCCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0172 a0001c0001t0024g0172	1	232	0.0043	27	c.-48 others(34): Show c.-48_-22dupCGCCGCCCGCTGCCTGCGCCGCCGGCC	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/10	21	INFO_REALIGN_3_PRIME	chr9	TogoVar
RYR1_chr19_38428691_38592564	38590394	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0083 a0001c0029t0001g0083	1	218	0.0046	27	c.29 others(38): Show c.2974_*2975insAAAAAAAAAAAAAATATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2831		chr19	TogoVar
RYR2_chr1_237037184_237838988	237346367	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0093 a0001c0004t0020g0093	1	100	0.0100	27	c.274 others(44): Show c.274-9581_274-9580insAAAAAAAAAAAAAAAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237436453	C C	CATTTTTT others(20): Show CATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	100	0.0100	27	c.100 others(46): Show c.1006-4866_1006-4865insATTTTTTTTTTTTTTTTTTTTTTTTT T	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	12/104			chr1	TogoVar
RYR2_chr1_237037184_237838988	237436454	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18522.hp2 HG03704.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0037 a0001c0003 a0001c0037	a0001c0003t0003 a0001c0037t0010 a0001c0003t0003 a0001c0037t0010	a0001c0003t0003g0046 a0001c0037t0010g0037 a0001c0003t0003g0046 a0001c0037t0010g0037	2	100	0.0200	27	c.100 others(46): Show c.1006-4841_1006-4840insTTTTTTTTTTTTTTTTTTTTTTTTTT T	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	12/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0120 a0001c0120	a0001c0120t0002 a0001c0120t0002	a0001c0120t0002g0121 a0001c0120t0002g0121	1	154	0.0065	27	c.983 others(46): Show c.9830+1201_9830+1202insATATATATATATATATATATATATTT T	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0009 a0009	a0009c0086 a0009c0086	a0009c0086t0002 a0009c0086t0002	a0009c0086t0002g0110 a0009c0086t0002g0110	1	154	0.0065	27	c.983 others(46): Show c.9830+1201_9830+1202insATATATATATATATATATATTTTTTT T	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33794052	A A	AAATATAT others(20): Show AAATATATACATAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03688.hp1 HG00558.hp1 HG03688.hp1	a0001 a0048 a0001 a0048	a0001c0001 a0048c0109 a0001c0001 a0048c0109	a0001c0001t0002 a0048c0109t0005 a0001c0001t0002 a0048c0109t0005	a0001c0001t0002g0030 a0048c0109t0005g0040 a0001c0001t0002g0030 a0048c0109t0005g0040	2	154	0.0130	27	c.983 others(46): Show c.9830+5607_9830+5608insTATATATTATATATAATATATACATA A	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100A12_chr1_153368711_153380621	153373149	C C	CACATATA others(20): Show CACATATATATGTATATATCATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	366	0.0027	27	c.67 others(36): Show c.677_*678insATATATATGATATATACATATATATGT	S100A12	ENSG00000163221.9	transcript	ENST00000368737.5	protein_coding		561		chr1	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGCG others(20): Show AGGGGGCGGGGGGGGTGGGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0179 a0001c0002t0002g0179	1	452	0.0022	27	c.-1- others(40): Show c.-1-977_-1-976insCCCCCCGCCCCCACCCCCCCCGCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(20): Show AGGGGGTGGGGGGAGGGGGGGCGGGGGG	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	452	0.0022	27	c.-1- others(40): Show c.-1-977_-1-976insCCCCCCGCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(20): Show AGGGGGTGGGGGGAGGGGGGGGCGGGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(7): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG01167.hp1 HG02165.hp1 HG03239.hp1 NA18941.hp1 NA18969.hp2 NA19009.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0058 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0143 a0001c0002t0002g0031	10	452	0.0221	27	c.-1- others(40): Show c.-1-977_-1-976insCCCCCGCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(20): Show AGGGGGTGGGGGGAGGGGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	452	0.0022	27	c.-1- others(40): Show c.-1-977_-1-976insCCCCACCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(20): Show AGGGGGTGGGGGGAGGGGGGGGTGGGGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	452	0.0022	27	c.-1- others(40): Show c.-1-977_-1-976insCCCCCACCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(20): Show AGGGGGTGGGGGGTGGGGGGGGCGGGGG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02976.hp1 HG03540.hp2 others(1): Show HG02896.hp1 HG02976.hp1 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0085 a0001c0002t0001g0117 a0001c0002t0001g0038 a0001c0002t0001g0085 a0001c0002t0001g0117	4	452	0.0089	27	c.-1- others(40): Show c.-1-977_-1-976insCCCCCGCCCCCCCCACCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(20): Show AGGGGGTGGGGGGTGGGGGGGGGCGGGG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	452	0.0022	27	c.-1- others(40): Show c.-1-977_-1-976insCCCCGCCCCCCCCCACCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603398	T T	TGGGGGGT others(20): Show TGGGGGGTGGGGGGGGCGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	452	0.0022	27	c.-1- others(40): Show c.-1-983_-1-982insGCCCCCCCCCCGCCCCCCCCACCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100PBP_chr1_32812653_32863875	32824846	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0082 a0001c0001t0008g0082	1	340	0.0029	27	c.-11 others(44): Show c.-119-467_-119-466insTATATATATATATATATATATATATAT	S100PBP	ENSG00000116497.18	transcript	ENST00000373475.10	protein_coding	1/6			chr1	TogoVar
SAAL1_chr11_18075292_18111082	18076627	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0037 a0003c0003t0001g0037	1	284	0.0035	27	c.37 others(38): Show c.3771_*3772insCTTTCTTTCTTTCTTTCTTTCTTTCTT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3664		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AAAAAAAG others(20): Show AAAAAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0115 a0003c0003t0001g0115	1	284	0.0035	27	c.37 others(38): Show c.3767_*3768insCTTTCTTTCTTTCTTTCTTTCTTTTTT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar
SAC3D1_chr11_65036210_65049828	65039029	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01257.hp2 HG01258.hp2 others(4): Show HG01074.hp1 HG01257.hp2 HG01258.hp2 HG01891.hp2 HG01952.hp2 HG01978.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0004 a0001c0002t0001g0013 a0001c0002t0001g0015	7	352	0.0199	27	c.-22 others(38): Show c.-2264_-2263insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SAC3D1	ENSG00000168061.17	transcript	ENST00000652489.1	protein_coding		2180		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	354	0.0028	27	c.-28 others(38): Show c.-2803_-2802insTATATATATATATATATATATTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02897.hp1 NA20129.hp1 HG02257.hp1 HG02897.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0035 a0001c0002t0004g0177 a0001c0002t0004g0035 a0001c0002t0004g0177	3	354	0.0085	27	c.-28 others(38): Show c.-2803_-2802insTATATATATATATATATATTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02109.hp2 HG02300.hp2 others(2): Show HG01106.hp1 HG02109.hp2 HG02300.hp2 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0002t0004 a0001c0004t0002 a0001c0002t0002 a0001c0002t0004 a0001c0004t0002	a0001c0002t0002g0008 a0001c0002t0004g0018 a0001c0002t0004g0180 others(2): Show a0001c0002t0002g0008 a0001c0002t0004g0018 a0001c0002t0004g0180 a0001c0002t0004g0181 a0001c0004t0002g0134	5	354	0.0141	27	c.-28 others(38): Show c.-2803_-2802insTATATATATATATATATTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0153 a0001c0002t0002g0153	1	354	0.0028	27	c.-28 others(38): Show c.-2803_-2802insTATATATATATATATTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0032 a0001c0002t0003g0032	1	354	0.0028	27	c.-28 others(38): Show c.-2803_-2802insTATATATATATATTTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0032 a0001c0002t0003g0032	1	354	0.0028	27	c.-28 others(38): Show c.-2803_-2802insTATATATATATTTTTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SAGSIN1_chr7_6324411_6353967	6343773	C C	CTGCCCTA others(20): Show CTGCCCTAACCTCCTTAAAATGCCTCAA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0118 a0001c0001t0010g0118	1	420	0.0024	27	c.186 others(44): Show c.186+4799_186+4800insTTGAGGCATTTTAAGGAGGTTAGGGCA	SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding	1/1			chr7	TogoVar
SAMD11_chr1_918923_949574	934517	G G	GGCGGCTG others(20): Show GGCGGCTGCGTTACAGGTGGGCGGGGGA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	434	0.0023	27	c.843 others(44): Show c.843-1254_843-1253insCGGCTGCGTTACAGGTGGGCGGGGGAG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934881	A A	AGGCGGCT others(20): Show AGGCGGCTGCGTTACAGGTGGGCGGGGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03041.hp1 HG00642.hp2 HG03041.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0008 a0001c0002 a0004c0008	a0001c0002t0011 a0004c0008t0006 a0001c0002t0011 a0004c0008t0006	a0001c0002t0011g0274 a0004c0008t0006g0281 a0001c0002t0011g0274 a0004c0008t0006g0281	2	434	0.0046	27	c.843 others(42): Show c.843-890_843-864dupGGCGGCTGCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD3_chr6_130139315_130227951	130153665	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	338	0.0030	27	c.102 others(46): Show c.1023+1159_1023+1160insTATATATATATATATATATATATATA T	SAMD3	ENSG00000164483.17	transcript	ENST00000439090.7	protein_coding	9/11			chr6	TogoVar
SAMHD1_chr20_36885229_36956708	36890419	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0226 a0001c0001t0050g0226	1	340	0.0029	27	c.25 others(38): Show c.2512_*2513insGAAAGAAAGAAAGAAAGAAAGAAAGAA	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2512		chr20	TogoVar
SAP130_chr2_127936222_128033059	128003957	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03041.hp2 NA20300.hp2 HG02486.hp1 HG03041.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0004g0058 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0004g0058	3	350	0.0086	27	c.870 others(44): Show c.870-3530_870-3504dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20			chr2	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0257 a0001c0001t0004g0257	1	360	0.0028	27	c.995 others(42): Show c.995-649_995-648insAAAAAAAAAAAAAAAAATATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARDH_chr9_133658560_133743352	133667594	A A	AATCAAAG others(20): Show AATCAAAGAAAGGCCAGCACCCAGGGCT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0058 a0003c0058	a0003c0058t0003 a0003c0058t0003	a0003c0058t0003g0161 a0003c0058t0003g0161	1	262	0.0038	27	c.249 others(44): Show c.2496-751_2496-725dupAGCCCTGGGTGCTGGCCTTTCTTTGAT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668413	T T	TCTCCCTT others(20): Show TCTCCCTTACCCCTCCCTCTCCCTCACC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0184 a0002c0002t0001g0184	1	262	0.0038	27	c.249 others(46): Show c.2496-1544_2496-1543insGGTGAGGGAGAGGGAGGGGTAAGGGA G	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668415	T T	TCCCTTAC others(20): Show TCCCTTACCCTCCCTCTCCCTCACCCTC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	262	0.0038	27	c.249 others(46): Show c.2496-1546_2496-1545insGAGGGTGAGGGAGAGGGAGGGTAAGG G	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133668693	T T	TCTCCCTC others(20): Show TCTCCCTCACCCTCCCTCTCCCCTCATC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0004 a0003c0035t0004	a0003c0035t0004g0040 a0003c0035t0004g0040	1	262	0.0038	27	c.249 others(46): Show c.2496-1824_2496-1823insGATGAGGGGAGAGGGAGGGTGAGGGA G	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133726368	A A	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01346.hp2 HG01981.hp2 others(7): Show HG01071.hp1 HG01346.hp2 HG01981.hp2 HG02723.hp2 HG02896.hp1 HG02896.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03540.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0014	a0001c0001 a0001c0011 a0001c0031 others(5): Show a0001c0001 a0001c0011 a0001c0031 a0002c0008 a0003c0009 a0003c0017 a0003c0050 a0014c0039	a0001c0001t0003 a0001c0011t0003 a0001c0031t0002 others(6): Show a0001c0001t0003 a0001c0011t0003 a0001c0031t0002 a0002c0008t0003 a0003c0009t0002 a0003c0017t0002 a0003c0017t0004 a0003c0050t0002 a0014c0039t0001	a0001c0001t0003g0164 a0001c0011t0003g0097 a0001c0031t0002g0243 others(7): Show a0001c0001t0003g0164 a0001c0011t0003g0097 a0001c0031t0002g0243 a0002c0008t0003g0059 a0003c0009t0002g0246 a0003c0017t0002g0006 a0003c0017t0004g0004 a0003c0017t0004g0005 a0003c0050t0002g0007 a0014c0039t0001g0128	10	262	0.0382	27	c.915 others(44): Show c.915+3370_915+3396dupATTATTATTATTATTATTATTATTATT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	6/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133726394	A A	ATAATAAT others(20): Show ATAATAATAATAATAATAATAATAATAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00558.hp2 others(35): Show HG00140.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00733.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01975.hp2 HG02040.hp2 HG02056.hp2 HG02109.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02683.hp1 HG03195.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18971.hp2 NA19003.hp1 NA19009.hp1 NA19009.hp2 NA19060.hp1 NA19077.hp1 NA19088.hp1 NA19091.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0007 others(12): Show a0001c0001 a0001c0006 a0001c0007 a0001c0016 a0001c0033 a0002c0002 a0002c0004 a0002c0008 a0002c0010 a0002c0053 a0002c0060 a0003c0003 a0003c0022 a0003c0035 a0003c0058	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0006t0001 a0001c0007t0001 a0001c0016t0003 a0001c0033t0004 a0002c0002t0003 a0002c0004t0001 a0002c0004t0002 a0002c0008t0004 a0002c0010t0001 a0002c0010t0002 a0002c0010t0004 a0002c0053t0002 a0002c0060t0004 a0003c0003t0003 a0003c0022t0002 a0003c0035t0004 a0003c0058t0003	a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0172 others(35): Show a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0258 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0003g0047 a0001c0006t0001g0136 a0001c0006t0001g0173 a0001c0007t0001g0167 a0001c0016t0003g0174 a0001c0033t0004g0029 a0002c0002t0003g0046 a0002c0002t0003g0168 a0002c0004t0001g0139 a0002c0004t0001g0160 a0002c0004t0002g0008 a0002c0004t0002g0012 a0002c0004t0002g0022 a0002c0004t0002g0027 a0002c0004t0002g0033 a0002c0004t0002g0035 a0002c0004t0002g0043 a0002c0004t0002g0044 a0002c0008t0004g0014 a0002c0010t0001g0140 a0002c0010t0002g0013 a0002c0010t0002g0018 a0002c0010t0002g0034 a0002c0010t0004g0036 a0002c0053t0002g0030 a0002c0060t0004g0017 a0003c0003t0003g0045 a0003c0022t0002g0028 a0003c0022t0002g0031 a0003c0035t0004g0040 a0003c0035t0004g0041 a0003c0058t0003g0161	38	262	0.1450	27	c.915 others(44): Show c.915+3370_915+3371insCTATTATTATTATTATTATTATTATTA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	6/20			chr9	TogoVar
SAT1_chrX_23778173_23791210	23780490	T T	TAATATAT others(20): Show TAATATATATATATTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18999.hp1 NA18999.hp2 others(2): Show NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0005g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0005g0001 a0001c0001t0006g0001	5	330	0.0152	27	c.-28 others(38): Show c.-2862_-2861insAATATATATATATTATATATATATATA	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2682		chrX	TogoVar
SATB1_chr3_18340377_18430339	18344358	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20752.hp1 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0073 a0001c0002t0017g0075 a0001c0002t0017g0073 a0001c0002t0017g0075	2	352	0.0057	27	c.48 others(38): Show c.4811_*4812insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SATB1	ENSG00000182568.18	transcript	ENST00000338745.11	protein_coding		1018		chr3	TogoVar
SATL1_chrX_85087284_85248779	85118087	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	232	0.0043	27	c.-31 others(46): Show c.-312-8808_-312-8807insAAAAAAAAAAAAAAAAAAAAAAAAAA A	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SBF2_chr11_9773668_10299219	9835631	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02922.hp2 HG00639.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0208 a0001c0001t0007g0212 a0001c0001t0007g0208 a0001c0001t0007g0212	2	224	0.0089	27	c.345 others(46): Show c.3456-3212_3456-3211insTTTTTTTTTTTTTTTTTTTTTTTTTT T	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	26/39			chr11	TogoVar
SBNO1_chr12_123284109_123369847	123297400	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0024 a0001c0008t0024	a0001c0008t0024g0112 a0001c0008t0024g0112	1	260	0.0039	27	c.403 others(44): Show c.4039+577_4039+578insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31			chr12	TogoVar
SBNO2_chr19_1102638_1179268	1137538	T T	TTCGGGCT others(20): Show TTCGGGCTGGGGTGCGGTGGGGGGAGGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0063 a0001c0025t0001g0063	1	203	0.0049	27	c.279 others(44): Show c.279+9744_279+9770dupGCCTCCCCCCACCGCACCCCAGCCCGA	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1165755	C C	CCCAGATC others(20): Show CCCAGATCTCAGACTCCAGACCCCAGAT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	203	0.0049	27	c.-12 others(46): Show c.-127+8416_-127+8417insATCTGGGGTCTGGAGTCTGAGATCTG G	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCAF1_chr19_49637209_49663642	49660028	C C	CACACACA others(20): Show CACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00280.hp2 HG00438.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0009	3	382	0.0079	27	c.16 others(38): Show c.1629_*1630insACACACACACACACACACACACACACA	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1387		chr19	TogoVar
SCAI_chr9_124937608_125148528	125046323	A A	ATATATAT others(20): Show ATATATATGTGATATCTCATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0180 a0001c0001t0076g0180	1	306	0.0033	27	c.230 others(44): Show c.230+9552_230+9553insATATATATATGAGATATCACATATATA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0151 a0001c0001t0019g0151	1	306	0.0033	27	c.98+ others(44): Show c.98+36510_98+36511insATATATATATTTTTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar

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