Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
SMOC2_chr6_168436184_168672992	168561078	G G	GAGGCTCT others(97): Show GAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGAT GTGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0040 a0001c0002t0002g0041	2	180	0.0111	104	c.637 others(123): Show c.637+11887_637+11888insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGATGTGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACAAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561078	G G	GAGGCTCT others(97): Show GAGGCTCTCACTGTGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	180	0.0056	104	c.637 others(123): Show c.637+11887_637+11888insTGTTCTTGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACAAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561097	T T	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGTG TTCTC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	180	0.0056	104	c.637 others(123): Show c.637+11912_637+11913insCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCA CTGTGTTCTCGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561149	T T	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATT CTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0017	1	180	0.0056	104	c.637 others(123): Show c.637+12043_637+12044insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561149	T T	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCG TTCTC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	180	0.0056	104	c.637 others(123): Show c.637+11991_637+11992insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGCGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561149	T T	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18950.hp2 HG00423.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0138 a0001c0002t0002g0009 a0001c0001t0001g0138 a0001c0002t0002g0009	2	180	0.0111	104	c.637 others(123): Show c.637+11991_637+11992insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561182	G G	GAGGCTCT others(97): Show GAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACAAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	180	0.0056	104	c.637 others(123): Show c.637+11991_637+11992insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACAAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACAAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561222	G G	GCCCTGAG others(97): Show GCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	180	0.0056	104	c.637 others(123): Show c.637+12043_637+12044insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTT CATACCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561248	A A	ATTCTTGG others(97): Show ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	180	0.0056	104	c.637 others(123): Show c.637+12068_637+12069insCTGCCCTGAGACACAAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTGTTCTTGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561390	G G	GAGGCTCT others(97): Show GAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	180	0.0056	104	c.637 others(123): Show c.637+12200_637+12201insGTTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACAAGGCTCTCACTGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561482	A A	ACCCTGAG others(97): Show ACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCCTG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0068	1	180	0.0056	104	c.637 others(123): Show c.637+12303_637+12304insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561494	G G	GAGGCTCT others(97): Show GAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGAC ACGAGGCTTTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0069 a0001c0002t0005g0069	1	180	0.0056	104	c.637 others(123): Show c.637+12304_637+12305insATTCTTGGAGGAGGTGTCATTTTCAT ACCCTGAGACACGAGGCTTTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACAAGGCTCTCACTGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561508	G G	ATTCTTGG others(97): Show ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18983.hp2 NA18944.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0137 a0001c0001t0001g0072 a0001c0001t0001g0137	2	180	0.0111	104	c.637 others(123): Show c.637+12304_637+12305insATTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561546	G G	GAGGCTCT others(97): Show GAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACAAGGCTTTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0010 a0002c0012t0010	a0002c0012t0010g0076 a0002c0012t0010g0076	1	180	0.0056	104	c.637 others(123): Show c.637+12380_637+12381insCTGCCCTGAGACACAAGGCTTTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561546	G G	GAGGCTCT others(97): Show GAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACAAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	180	0.0056	104	c.637 others(123): Show c.637+12355_637+12356insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACAAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACAAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561565	T T	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01952.hp1 NA18950.hp2 others(3): Show HG00423.hp2 HG01952.hp1 NA18950.hp2 NA18960.hp2 NA19079.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0095 a0001c0001t0001g0134 a0001c0001t0001g0138 others(3): Show a0001c0001t0001g0095 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0002t0002g0009 a0001c0002t0002g0027 a0001c0002t0002g0030	6	180	0.0333	104	c.637 others(123): Show c.637+12380_637+12381insCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTGTTCTCGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561716	A A	ATTCTTGG others(97): Show ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18983.hp2 NA18944.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0137 a0001c0001t0001g0072 a0001c0001t0001g0137	2	180	0.0111	104	c.637 others(123): Show c.637+12563_637+12564insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561754	G G	GAGGCTCT others(97): Show GAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACAAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	180	0.0056	104	c.637 others(123): Show c.637+12563_637+12564insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACAAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACAAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561825	T T	CGGAGGAG others(97): Show CGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCA TTCTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0042 a0001c0008t0002g0042	1	180	0.0056	104	c.637 others(123): Show c.637+12621_637+12622insCGGAGGAGGTGTCATTTTCCTGCCCT GAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCC CTGAGACACGAGGCTCTCACTGCATTCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561825	T T	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	180	0.0056	104	c.637 others(123): Show c.637+12667_637+12668insCATTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561916	C C	CTCACTGC others(97): Show CTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTTTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	180	0.0056	104	c.637 others(123): Show c.637+12744_637+12745insCTGCCCTGAGACACGAGGCTTTCACT GCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTTTCA CTGCATTCTTGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562033	T T	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATT CTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	180	0.0056	104	c.637 others(123): Show c.637+12848_637+12849insATACCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTGTTCTCGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562054	G G	GCCCTGAG others(97): Show GCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02056.hp2 HG00738.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0103 a0001c0002t0002g0025 a0001c0001t0001g0103 a0001c0002t0002g0025	2	180	0.0111	104	c.637 others(123): Show c.637+12862_637+12863insGAGGCTCTCACTGTGTTCTCGGAGGA GGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCATACCCTGAGACAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562054	G G	GCCCTGAG others(97): Show GCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTGACTGCGTTTTCGGAGGAGGTGTCATTT TCATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	180	0.0056	104	c.637 others(123): Show c.637+12862_637+12863insGAGGCTCTCACTGTGTTCTCGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTGACTGCGTTTTCGGAG GAGGTGTCATTTTCATACCCTGAGACAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562066	A A	AAGGCTCT others(97): Show AAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	180	0.0056	104	c.637 others(123): Show c.637+12876_637+12877insGTTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562158	G G	GCCCTGAG others(97): Show GCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18983.hp2 NA18944.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0137 a0001c0001t0001g0072 a0001c0001t0001g0137	2	180	0.0111	104	c.637 others(123): Show c.637+13031_637+13032insCATTCTTGGAGGAGGTGTCATTTTCA TACCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTT CATACCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562189	T T	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTTTCACTGCATT CTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18973.hp1 HG00741.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0110 a0001c0001t0003g0149 a0001c0001t0001g0110 a0001c0001t0003g0149	2	180	0.0111	104	c.637 others(123): Show c.637+13004_637+13005insCTGCCCTGAGACACGAGGCTTTCACT GCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTGTTCTCGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168668970	C C	CGTCCCCC others(97): Show CGTCCCCCTCCCCCACACCCTACGCCCCCCTCCCCCACGCCCCCCCCTCC CCCACACCCCAGGTCCCCCTCCCCAACACCCTGCATCCCCTCCCCCACGC CTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	180	0.0056	104	c.25 others(115): Show c.2532_*2533insGTCCCCCTCCCCCACACCCTACGCCCCCCTCCCC CACGCCCCCCCCTCCCCCACACCCCAGGTCCCCCTCCCCAACACCCTGCA TCCCCTCCCCCACGCCTGCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding		979		chr6	TogoVar
SMOC2_chr6_168436184_168672992	168668970	C C	CGTCCCCC others(97): Show CGTCCCCCTCCCCCCACACCCTACGCCCCCCTCCCCCACGCCCCCCCTCC CCCACACCCCAGGTCCCCCTCCCCAACACCCTGCATCCCCTCCCCCACGC CTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	180	0.0056	104	c.25 others(115): Show c.2532_*2533insGTCCCCCTCCCCCCACACCCTACGCCCCCCTCCC CCACGCCCCCCCTCCCCCACACCCCAGGTCCCCCTCCCCAACACCCTGCA TCCCCTCCCCCACGCCTGCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding		979		chr6	TogoVar
SMYD3_chr1_245744347_246512279	246484469	T T	TTCAACCA others(97): Show TTCAACCAAAATACCTAAACTACTGCACTAGTTACACCTGAAAACACATC GCCTCAACCAAAATACCTAAACTACTGCACTAGTTACACCTGAAAACACA TCGCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	150	0.0067	104	c.164 others(123): Show c.164+22584_164+22585insGGCGATGTGTTTTCAGGTGTAACTAG TGCAGTAGTTTAGGTATTTTGGTTGAGGCGATGTGTTTTCAGGTGTAACT AGTGCAGTAGTTTAGGTATTTTGGTTGA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246484573	T T	TTCAACCA others(97): Show TTCAACCAAAATACCTAAACTACTGCACTAGTTACACCTGAAAACACATC GCCTCAACCAAAATACCTAAACTACTGCACTAGTTACACCTGAAAACACA TCGCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	150	0.0067	104	c.164 others(123): Show c.164+22480_164+22481insGGCGATGTGTTTTCAGGTGTAACTAG TGCAGTAGTTTAGGTATTTTGGTTGAGGCGATGTGTTTTCAGGTGTAACT AGTGCAGTAGTTTAGGTATTTTGGTTGA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246484677	T T	TTCAACCA others(97): Show TTCAACCAAAATACCTAAACTACTGCACTAGTTACACCTGAAAACACATC GCCTCAACCAAAATACCTAAACTACTGCACTAGTTACACCTGAAAACACA TCGCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	150	0.0067	104	c.164 others(123): Show c.164+22376_164+22377insGGCGATGTGTTTTCAGGTGTAACTAG TGCAGTAGTTTAGGTATTTTGGTTGAGGCGATGTGTTTTCAGGTGTAACT AGTGCAGTAGTTTAGGTATTTTGGTTGA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNED1_chr2_240993618_241100568	241015708	T T	TGCTGGCC others(97): Show TGCTGGCCGAGGCCTCCAATGAATCGTCTCATAGCGGTGGTGTTGGTGCC TGTGCTGGCCAAGGCCTCCCGTGAATCGTCTCATAGCGGTGGTGTTGGTG CCTGC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0004 a0004	a0004c0026 a0004c0026	a0004c0026t0004 a0004c0026t0004	a0004c0026t0004g0228 a0004c0026t0004g0228	1	344	0.0029	104	c.214 others(123): Show c.214-14477_214-14476insCCTGCGCTGGCCGAGGCCTCCAATGA ATCGTCTCATAGCGGTGGTGTTGGTGCCTGTGCTGGCCAAGGCCTCCCGT GAATCGTCTCATAGCGGTGGTGTTGGTG	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNRNP27_chr2_69888956_69910236	69899124	A A	AAGATGTT others(97): Show AAGATGTTTGCTTATAAAGGAAAACTTAGGTGAAAAGTACTGTGTAAGTC CTGAAAGTCAGATCTAAGGGTGGTGCCACCCATCACTTAAATGTAGTCAG TGAAG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0105	1	440	0.0023	104	c.348 others(121): Show c.348+1705_348+1706insACTGTGTAAGTCCTGAAAGTCAGATCTA AGGGTGGTGCCACCCATCACTTAAATGTAGTCAGTGAAGAGATGTTTGCT TATAAAGGAAAACTTAGGTGAAAAGT	SNRNP27	ENSG00000124380.11	transcript	ENST00000244227.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222047	G G	GTGTCTCT others(97): Show GTGTCTCTGTCTCTGCCTATCTCTGTCTCTGTCTCTCTCTGTCTCTGTCT CTCTCTGTCTCTGCCTATCTCTGTCTCTGTTTCTCTCTGTCTCTGTCTCT GTCTC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0003 a0005c0006t0002g0003	1	190	0.0053	104	c.719 others(123): Show c.719+12818_719+12819insGTCTCTGTCTCTGCCTATCTCTGTCT CTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCT GTTTCTCTCTGTCTCTGTCTCTGTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX18_chr5_54512759_54551586	54513684	T T	TTATATAT others(97): Show TTATATATAATATATAAATTTATATATAATATATATTATATATTATATAT AAATTTATATATAATATATATTATATATAATATATAAATTTATATATAAT ATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01070.hp2 others(5): Show HG00099.hp1 HG00738.hp1 HG01070.hp2 HG01123.hp2 HG01256.hp2 HG01515.hp2 HG01975.hp2 HG01981.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0028 a0001c0003t0029 a0001c0003t0013 a0001c0003t0028 a0001c0003t0029	a0001c0003t0013g0032 a0001c0003t0013g0195 a0001c0003t0013g0196 others(4): Show a0001c0003t0013g0032 a0001c0003t0013g0195 a0001c0003t0013g0196 a0001c0003t0013g0197 a0001c0003t0028g0193 a0001c0003t0028g0194 a0001c0003t0029g0032	8	390	0.0205	104	c.-42 others(115): Show c.-4269_-4268insTATATATAATATATAAATTTATATATAATATATA TTATATATTATATATAAATTTATATATAATATATATTATATATAATATAT AAATTTATATATAATATATA	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		4074		chr5	TogoVar
SPAAR_chr9_35904490_35916686	35913864	T T	TAGTGTGT others(97): Show TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG03831.hp1 HG02129.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	420	0.0048	104	c.31 others(115): Show c.3173_*3174insAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTG	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2179		chr9	TogoVar
SPAG16_chr2_213279464_214415501	213833567	A A	ATATATAT others(97): Show ATATATATATAATATATATATAATATATATAATATATATATATTATATAT ATAATATATATATTATATATATATTATATATATAATATATATATTATATA TATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02895.hp2 HG02717.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0001g0012 a0001c0001t0001g0037	2	86	0.0233	104	c.107 others(125): Show c.1071-28898_1071-28897insAATATATATAATATATATATATTA TATATATAATATATATATTATATATATATTATATATATAATATATATATT ATATATATATTATATATATAATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG9_chr17_50957174_51125868	51077001	T T	TCTAGCTA others(97): Show TCTAGCTATCTAGCTATCTAGCTAGCTAGCTATCTATCTAGCTATCTAGC TATCTAGCTAGCTAGCTATCTAGCTAGCTATCTAGCTATCTAGCTAGCTA TCTAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18947.hp2 NA18994.hp2 others(2): Show HG00621.hp1 NA18947.hp2 NA18994.hp2 NA19057.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0205 a0001c0001t0001g0239 a0001c0001t0001g0248 others(2): Show a0001c0001t0001g0205 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0259 a0001c0001t0003g0203	5	292	0.0171	104	c.424 others(121): Show c.424+2582_424+2583insCTAGATAGCTAGCTAGATAGCTAGATAG CTAGCTAGATAGCTAGCTAGCTAGATAGCTAGATAGCTAGATAGATAGCT AGCTAGCTAGATAGCTAGATAGCTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAST_chr2_32058556_32162637	32110846	A A	AGTGTGTA others(97): Show AGTGTGTATAGAGTATATATACAGTATACTATATAGTGTGTATAGAGTAT ATATACAGTATACTATATAGTGTGTATAGAGTATATATACAGTATACTAT ATAGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00609.hp1 others(32): Show HG00140.hp1 HG00408.hp1 HG00609.hp1 HG00741.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01433.hp1 HG01516.hp2 HG01891.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02300.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03486.hp2 HG03490.hp1 HG03704.hp2 NA18939.hp2 NA18943.hp1 NA18950.hp1 NA18972.hp1 NA18972.hp2 NA18982.hp1 NA19003.hp2 NA19056.hp1 NA19057.hp2 NA19068.hp2 NA19079.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0022	a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0128 others(32): Show a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0223 a0001c0001t0001g0342 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0004g0011 a0001c0001t0004g0033 a0001c0001t0022g0019	35	342	0.1023	104	c.683 others(121): Show c.683-3790_683-3789insGTGTATAGAGTATATATACAGTATACTA TATAGTGTGTATAGAGTATATATACAGTATACTATATAGTGTGTATAGAG TATATATACAGTATACTATATAGTGT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32110846	A A	AGTGTGTA others(97): Show AGTGTGTATAGAGTATATATACAGTATACTATATAGTGTGTATAGAGTAT ATATACAGTATACTATATAGTGTGTATAGAGTATATATACAGTATACTAT ATCGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02738.hp2 HG02809.hp1 others(4): Show HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG03831.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0014 a0001c0001t0003g0025 others(4): Show a0001c0001t0003g0010 a0001c0001t0003g0014 a0001c0001t0003g0025 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062	7	342	0.0205	104	c.683 others(121): Show c.683-3790_683-3789insGTGTATAGAGTATATATACAGTATACTA TATAGTGTGTATAGAGTATATATACAGTATACTATATAGTGTGTATAGAG TATATATACAGTATACTATATCGTGT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24189953	T T	TTATATAT others(97): Show TTATATATAATTATATAATATATTACGTAATATATTATATATAATTATAT AATATATTACGTAATATATTATATATAATTATATAATATATTACATAATA TATTA	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18906.hp2 NA19240.hp2 HG03453.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0029 a0001c0005 a0001c0006 a0001c0029	a0001c0005t0003 a0001c0006t0077 a0001c0029t0086 a0001c0005t0003 a0001c0006t0077 a0001c0029t0086	a0001c0005t0003g0002 a0001c0006t0077g0156 a0001c0029t0086g0209 a0001c0005t0003g0002 a0001c0006t0077g0156 a0001c0029t0086g0209	3	356	0.0084	104	c.-11 others(125): Show c.-112+29027_-112+29028insTAATTATATAATATATTACGTAAT ATATTATATATAATTATATAATATATTACGTAATATATTATATATAATTA TATAATATATTACATAATATATTATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPEF2_chr5_35612863_35819611	35751066	T T	TACACATA others(97): Show TACACATATGTATATATATATACGTATATATATACACATATGTATATATA TATACGTATATATATACGTATATATATACGTATATATATATACGTATATA TATAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0025 a0006c0008t0001g0025	1	268	0.0037	104	c.333 others(123): Show c.3331-2558_3331-2557insACACATATGTATATATATATACGTAT ATATATACACATATGTATATATATATACGTATATATATACGTATATATAT ACGTATATATATATACGTATATATATAC	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36			chr5	TogoVar
SPINK6_chr5_148198042_148220137	148210338	A A	ATATGTAT others(97): Show ATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATACAT ATATATGTATGTGTTTCTGCATACATATGTATGTGTTTCTGCATACATAT ATATG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03225.hp2 HG02145.hp1 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	2	438	0.0046	104	c.82- others(119): Show c.82-3567_82-3566insATGTGTTTCTGCATACATATATATGTATGT GTTTCTGCATACATATATATGTATGTGTTTCTGCATACATATGTATGTGT TTCTGCATACATATATATGTATGT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TACACATA others(97): Show TACACATATATATATATATATATATACACATATATATATATATATATATA TATACACATATATATATATATATATACACACATATATATATATATATATA CACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18906.hp2 HG03195.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	2	458	0.0044	104	c.294 others(119): Show c.294-615_294-614insCACATATATATATATATATATATACACATA TATATATATATATATATATATACACATATATATATATATATATACACACA TATATATATATATATATACACACA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPNS3_chr17_4428940_4493204	4462494	C C	CACCCACC others(97): Show CACCCACCCATCCACCAATCCATCCATCCACCCACCCACCCACCCACCAA TCCATCCATCCACCCACCCACCCACCCACCCACCCATCCATCCACCAGTC TATCA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0005 a0001c0009t0001g0005	1	362	0.0028	104	c.111 others(123): Show c.1113+9290_1113+9291insCCCACCCATCCACCAATCCATCCATC CACCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCCACCCA CCCACCCATCCATCCACCAGTCTATCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SRFBP1_chr5_121956975_122033633	121961698	A A	AACACACA others(97): Show AACACACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACACACACACACACACACACACACACACACACACACACA CACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0103 a0001c0004t0006g0103	1	228	0.0044	104	c.-33 others(113): Show c.-335_-334insACACACACACACACACACACACACACACACACACAC ACACACACACACACACACACACACACACACACACACACACACACACACAC ACACACACACACACACAC	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		276		chr5	TogoVar
ST6GAL1_chr3_186925526_187083553	186984798	T T	TCCTTCTC others(97): Show TCCTTCTCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTCC CTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0200 a0001c0001t0040g0200	1	362	0.0028	104	c.-18 others(125): Show c.-183+20877_-183+20878insTCTCCCTCCCTCCCTCCCTCCCTC CTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTCCCTTC	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ST7_chr7_116948501_117235176	117031676	A A	ACGCATAT others(97): Show ACGCATATATGTGTGTGTATGTGCATATATACGCATATATGTGTGTGTAT GTGCATATATACGCATATATGTGTGTGTATGTGCATATATACGCATATAT GTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	188	0.0053	104	c.152 others(123): Show c.152-68086_152-68085insCGCATATATGTGTGTGTATGTGCATA TATACGCATATATGTGTGTGTATGTGCATATATACGCATATATGTGTGTG TATGTGCATATATACGCATATATGTGTG	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031684	A A	ATGTGTGT others(97): Show ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	188	0.0053	104	c.152 others(123): Show c.152-68078_152-68077insTGTGTGTATATGTGCATATATACGCA TATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCA TATATACGCATATATGTGTGTATATGTG	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar

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