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
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(563): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0043 a0043	a0043c0024 a0043c0024	a0043c0024t0004 a0043c0024t0004	a0043c0024t0004g0020 a0043c0024t0004g0020	1	292	0.0034	570	c.377 others(587): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MFSD3_chr8_144504070_144516213	144513791	C C	CGTGGGGA others(563): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGCCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGT GAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	570	c.26 others(581): Show c.2627_*2628insGTGGGGAGTGAGGAGGGGTCGGCGTGGCCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCC TGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2579		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513791	C C	CGTGGGGA others(563): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGT GAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18962.hp1 NA18966.hp1 others(2): Show NA18961.hp2 NA18962.hp1 NA18966.hp1 NA19000.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	400	0.0125	570	c.26 others(581): Show c.2627_*2628insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCC TGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2579		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(563): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	570	c.26 others(581): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC CTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513804	G G	GAGGGGTC others(563): Show GAGGGGTCAGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGT GGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGG CCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG02622.hp1 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	2	400	0.0050	570	c.26 others(581): Show c.2640_*2641insAGGGGTCAGCGTGGGCAGTGGGGAGTGAGGAGGG GTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGA GTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2592		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513834	A A	GAGGGGTC others(563): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGT GGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00609.hp2 others(7): Show HG00438.hp2 HG00597.hp1 HG00609.hp2 HG01993.hp1 HG02132.hp1 NA18980.hp1 NA18983.hp1 NA18990.hp2 NA19002.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	10	400	0.0250	570	c.26 others(580): Show c.2670delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2621		chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(563): Show TCTGCTCTCCCCTCCCCTCTTCCCTCCCCTCTCCCCTCCCCCTCCCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTC CCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTC TCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCCCCT CCTCCCCTCCTCCCCTCCCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCTTCCCCTCCT CCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0029 a0002c0004t0001g0029	1	140	0.0071	570	c.114 others(589): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCTTCCCTCCCC TCTCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCC CCTCCCGTCTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCCCCCCTCCTCCCCTCCTCCCCTCCCCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCTTCCCCTCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCT CCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MUSK_chr9_110663791_110811558	110690669	T T	TATATATA others(563): Show TATATATATTTAAATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATAAATATATATATTTA TATATAAGTATATATATAAATATATATTTATATATAAGTATATATATATA TTTATATATAAGTATATATATAAATATATATATTTATATATAAGTATATA TATATTTATATATAAGTATATATAAATATATATATTTATATATAAGTGTA TATATATAAATATATATATTTATATATAAGTATATATAAATATATATATT TAAATATAAGTATATATAAATATATATATTTAAATATAAGTATATATAAA TATATATTTAAATATAAGTATATATAAATATATATTTAAATATAAGTATA TATAAATATATATTTAAATATAAGTATATATAAATATATATTTAAATATA AGTATATATATAAATATATATTTAAATATAAGTATATATATAAATATATA TTTAAATATAAGTATATATATAAATATAAGTATATATATAAATATATATT TAAATATAAGTATATATATAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02965.hp2 HG02896.hp2 HG02965.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0019 a0007c0011t0019	a0007c0011t0019g0126 a0007c0011t0019g0127 a0007c0011t0019g0126 a0007c0011t0019g0127	2	326	0.0061	570	c.358 others(587): Show c.358+3430_358+3431insTATTTATATATAAGTATATATATAAATA TATATATTTATATATAAGTATATATATAAATATATATATTTATATATAAG TATATATATAAATATATATTTATATATAAGTATATATATATATTTATATA TAAGTATATATATAAATATATATATTTATATATAAGTATATATATATTTA TATATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTAAATATA AGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATATT TAAATATAAGTATATATAAATATATATTTAAATATAAGTATATATAAATA TATATTTAAATATAAGTATATATAAATATATATTTAAATATAAGTATATA TATAAATATATATTTAAATATAAGTATATATATAAATATATATTTAAATA TAAGTATATATATAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATATAAATATATATTTAAATATAAGTATATATATA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NEU4_chr2_241804193_241822413	241805556	A A	ACCTTCCC others(563): Show ACCTTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACTCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCT CCGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCA GGGACCTCCGCAGGCCACCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0108 a0002c0003t0002g0108	1	319	0.0031	570	c.-37 others(581): Show c.-3722_-3721insCCTTCCCTCCCCCCTCAGCCCAGGGATGTCTGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCC CTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCC TCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC TCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3636		chr2	TogoVar
NEU4_chr2_241804193_241822413	241820010	T T	TTGTGTGC others(563): Show TTGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCCCGT GTGTAGGTCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCAT GGCCCGTGTGCTGGGTGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCT GGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTCTCATGTGT GTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTCT CATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGC ATCCTGTCATGCGTGTGTCCTGCCTCGTGGTGTGTGTGTAGGTTGTGTGC TGGGTGCATCCTCTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGT CGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGCCTCATGGTGTGTG TGTAGGTTGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCGTG GCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTG GCTCATGGCCCGTGTGCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	2	319	0.0063	570	c.29 others(581): Show c.2962_*2963insTGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCC TGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATGCG TGTGTCCTGGCTCATGGCCCGTGTGCTGGGTGTGTGCTGGGTGCATCCTG TCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTG CATCCTCTCATGTGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTG CTGGGTGCATCCTCTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGG TCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGCCTCGTGGTGTGT GTGTAGGTTGTGTGCTGGGTGCATCCTCTCATGCGTGTGTCCTGGCTCGT GGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCT GCCTCATGGTGTGTGTGTAGGTTGTGTGCTGGGTGCATCCTGTCATGCGT GTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTGT CATGCGTGTGTCCTGGCTCATGGCCCGTGTGCTGGG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2598		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79505513	T T	TGTGGGAG others(563): Show TGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAG ACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAG GCAGGAGACTGCTGTGTGGGAGGAGGTGGTGGATGAGACCCTTGGGTGAT GGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTT GGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGA GGCCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGG TGGACGAGACCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGAG GAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGC GTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGA CTGCTGTGTGGGAGGAGGTGGTGGACGAGACCCTTGGGTGATGGAAGAGG CAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGG GAAGAGGCAGGAGACTGCTGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0222 a0002c0003t0001g0222	1	322	0.0031	570	c.278 others(591): Show c.2782+18632_2782+18633insCGTGGGAGGAGGTGGTGCTGGAGG CCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTG GATGAGACCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGCGTGGGAGGA GGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGT GGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGATGGAAGAGGCAGGAGACT GCTGTGTGGGAGGAGGTGGTGGACGAGACCCTTGGGTGATGGAAGAGGCA GGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGA AGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGG TGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGGACGAGAC CCTTGGGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGC TGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAG GTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(563): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATAC TGTGTATATATACACAGTATGTATACTGCATACAGTATGTATACTGTATA CATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTAT ACTGTATATATACACTATACAGTATGTATACTGTATATATACACAATACA GTATGTATACTGTATATATACACAATACAGTATGTATACTGTATATATAC ACAATACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGT ATATATACACAATACAGTATGTATACTGTATATATACACACAGTATGTAT ACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0080 a0001c0004t0004g0080	1	362	0.0028	570	c.-75 others(589): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATACAGT ATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTATA TATACAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTAT TGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGTATACA TACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATAC AGTATACATACTGTATGCAGTATACATACTGTGTATATATACACAGTATA CATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACA TACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATA CTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATACT GTGTATATATACGGTATACATACATACAGTATACATACATACAGTATACA TACATACAGTATACATGCTGTATACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(563): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0266 a0001c0002t0001g0266	1	356	0.0028	570	c.91+ others(583): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGCTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	942765	A A	AACACCTT others(563): Show AACACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGCGCAGCCATGAA TTCACCACACACCTCCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAG CCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAG GGTGCAGCCATGAATTCACCAAACACCTCCCTGGATTTACAGCGAACAAG ATTCCAGGGCGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGT GAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGAT TTACAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCACATCACACCTT CCTGGATTTACAGCGAACAAGATTCCAGGGTGCAGCCATGAACTCACATC ACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAAT TCACCAAACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGC CATGAATTCACCAAACACCTTCCTGGATTTACAGCGAACAAGATTCCAGG GCGCAGCCATGAATTCACCAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	242	0.0041	570	c.360 others(589): Show c.360+36553_360+36554insGTGGTGAATTCATGGCTGCGCCCTGG AATCTTGTTCGCTGTAAATCCAGGAAGGTGTTTGGTGAATTCATGGCTGC ACCCTGGAATCTTGTTCACTGTAAATCCAGGAAGGTGTTTGGTGAATTCA TGGCTGCACCCTGGAATCTTGTTCACTGTAAATCCAGGAAGGTGTGATGT GAGTTCATGGCTGCACCCTGGAATCTTGTTCGCTGTAAATCCAGGAAGGT GTGATGTGAGTTCATGGCTGCACCCTGGAATCTTGTTCACTGTAAATCCA GGGAGGTGTTTGGTGAATTCATGGCTGCACCCTGGAATCTTGTTCACTGT AAATCCAGGAAGGTGTGATGTGAGTTCATGGCTGCGCCCTGGAATCTTGT TCGCTGTAAATCCAGGGAGGTGTTTGGTGAATTCATGGCTGCACCCTGGA ATCTTGTTCACTGTAAATCCAGGAAGGTGTGATGTGAGTTCATGGCTGCA CCCTGGAATCTTGTTCACTGTAAATCCAGGGAGGTGTGTGGTGAATTCAT GGCTGCGCCCTGGAATCTTGTTCGCTGTAAATCCAGGAAGGTGT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OSGIN1_chr16_83948240_83971332	83950857	A A	ACACACGT others(563): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATAC ATACCGGCACACGTACACACATGCACACATGAACACATGTGCACACGTAC ACACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGC ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACACACGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACACACATGCATACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCAC ACATGCCCATACACACTGGCACACACGTACACACACGCACACATGAGCAC ATGTGCACACATGCACATACACACTGGCACACACGTACACACACATGCAC ACATGAGCACATGTGCACACATGCACATACATACCGGCACACGTACACAC ATGCACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0137 a0001c0003t0004g0137	1	350	0.0029	570	c.-25 others(581): Show c.-2546_-2545insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACCGGCACACGTACACACATGCACACATGAACA CATGTGCACACGTACACACACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACACACGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACACACATGCATACATG AGCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACA TGAGCACATGTGCACACATGCCCATACACACTGGCACACACGTACACACA CGCACACATGAGCACATGTGCACACATGCACATACACACTGGCACACACG TACACACACATGCACACATGAGCACATGTGCACACATGCACATACATACC GGCACACGTACACACATGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2382		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950857	A A	ACACACGT others(563): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATAC ATACCGGCACACGTACACACATGCACACATGAACACATGTGCACACGTAC ACACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGC ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACACACGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACACACATGCATACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCAC ACATGCCCATACACACTGGCACACACGTACACACATGCACACATGAGCAC ATGTGCACACATGCACATACACACTGGCACACACGTACACACACATGCAC ACATGAGCACATGTGCACACATGCACATACATACCGGCACACGTACACAC ATGCACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	350	0.0029	570	c.-25 others(581): Show c.-2546_-2545insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACCGGCACACGTACACACATGCACACATGAACA CATGTGCACACGTACACACACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACACACGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACACACATGCATACATG AGCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACA TGAGCACATGTGCACACATGCCCATACACACTGGCACACACGTACACACA TGCACACATGAGCACATGTGCACACATGCACATACACACTGGCACACACG TACACACACATGCACACATGAGCACATGTGCACACATGCACATACATACC GGCACACGTACACACATGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2382		chr16	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(563): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTAATACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTATTACATATATAACATATATGTATTACATATATGTATTACATATA TAACATATATGTATTACATATATGTATTACATATATAACATATATGTATT ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATGTATTACATATATGTAATACATATATAACATGTATTACA TATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	400	0.0025	570	c.70 others(581): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTAATACATATATAACATATATGTATT ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTATTACATATATAACATATATGTATTACATATATGTATTACATATA TAACATATATGTATTACATATATGTATTACATATATAACATATATGTATT ACATATATGTATTACATATATAACATGTATTACATATATGTAATACATAT ATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PRKCZ_chr1_2045411_2190395	2106750	A A	AGCCCCTC others(563): Show AGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGAC TCTTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACATGTGTCACCAGG CCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGT GTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCCACACGTGTCACCAG GCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGT GTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCT CCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGG CGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCC TCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAG CAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTG ACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCA GGCCAGGTAACTCTTCAGCAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	286	0.0035	570	c.335 others(589): Show c.335-28505_335-28504insCGGTGGGCGAGGACCTCCACACGTGT CACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCCGGTGGGCGAGGACCTC CACATGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGC GAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCT CCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGC GAGGACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTC CGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGC AGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGA CTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAG GCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGT GTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACC TCCATGCGTGTCACCAGGCCAGGTAACTCTTCAGCAGGCCCCTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123816	C C	CGGCTATA others(563): Show CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAG TTAGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGATCATGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCAT GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGT TAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGG TAGTTAGGATCATGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGT CAAGGTGGTAGTTAGGATCAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03239.hp1 HG00280.hp2 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0032 a0001c0003t0001g0138 a0001c0002t0002g0032 a0001c0003t0001g0138	2	286	0.0070	570	c.335 others(589): Show c.335-11443_335-11442insTATAGTTGGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGT AGTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC AAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGC TGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCA AGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG ATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATGGC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133923	C C	CCCCTCTC others(563): Show CCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTTCCCTGTCTCCACCT CCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CCACCTTCCCTGTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCT CCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTTCCCTGTCTCCACCT CCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CCACCTTCCCTGTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCT CCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTTCCCT GTCTCCACCTCCCCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	227	0.0044	570	c.24 others(581): Show c.2491_*2492insCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT TCCCTGTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT TCCCTGTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2211		chr19	TogoVar
PRR5L_chr11_36291288_36470204	36309624	C C	CATGATGG others(563): Show CATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGA TGATGGTGGTGGTGGTAGTGAGCATGATGGTGGTGGTGGTAGTGGGGATG ATGGTGGTGGTGGTATTGGGGATGATGGGTGGTGGTATTGGGGATGATGG TGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTG GTGGTGGTATTGGAGATGATGGTGGTGGTGGTAGTGAGGATGATGGTGGT GGTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGG TGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTG GTATTGGGGATGATGGTGGTGGTGGTATTGGAGATGATGGTGGTGGTGGT AGTGAGGATGATGGTGGTGGTGGTAGTGGGGATGATGGGTGGTGATATTG GGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGG GATGATGGTGGTGGTGGTATTGGGGATGATGGGTGGTGGTATTGGAGATG ATGGTGGTGGTGGTAGTGAGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp2 HG02886.hp1 others(4): Show HG01496.hp1 HG01884.hp2 HG02886.hp1 HG02965.hp2 HG03130.hp2 HG03453.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0013t0013 a0002c0004t0003	a0001c0001t0001g0048 a0001c0001t0004g0182 a0001c0001t0004g0183 others(4): Show a0001c0001t0001g0048 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0002t0001g0184 a0001c0013t0013g0262 a0002c0004t0003g0027 a0002c0004t0003g0258	7	272	0.0257	570	c.-12 others(591): Show c.-126+13216_-126+13217insGTGGTGGTGGTATTGGGGATGATG GTGGTGGTGGTAGTGAGCATGATGGTGGTGGTGGTAGTGGGGATGATGGT GGTGGTGGTATTGGGGATGATGGGTGGTGGTATTGGGGATGATGGTGGTG GTGGTAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGT GGTATTGGAGATGATGGTGGTGGTGGTAGTGAGGATGATGGTGGTGGTGG TAGTGGGGATGATGGTGGTGGTGGTATTGGGGATGATGGTGGTGGTGGTA GTGGGGATGATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTATT GGGGATGATGGTGGTGGTGGTATTGGAGATGATGGTGGTGGTGGTAGTGA GGATGATGGTGGTGGTGGTAGTGGGGATGATGGGTGGTGATATTGGGGAT GATGGTGGTGGTGGTAGTGGGGATGATGGTGGTGGTGGTAGTGGGGATGA TGGTGGTGGTGGTATTGGGGATGATGGGTGGTGGTATTGGAGATGATGGT GGTGGTGGTAGTGAGGATGATGGTGGTGGTGGTAGTGGGGATGATG	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(563): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA TCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGAC GGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGCCCGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGG GCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	252	0.0040	570	c.139 others(589): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGCCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGGA others(563): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGT GAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18966.hp1 NA18980.hp2 others(2): Show NA18962.hp2 NA18966.hp1 NA18980.hp2 NA19000.hp1 NA19085.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0010 a0006c0009 a0001c0001 a0005c0010 a0006c0009	a0001c0001t0001 a0005c0010t0001 a0006c0009t0001 a0001c0001t0001 a0005c0010t0001 a0006c0009t0001	a0001c0001t0001g0007 a0001c0001t0001g0088 a0001c0001t0001g0090 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0088 a0001c0001t0001g0090 a0005c0010t0001g0089 a0006c0009t0001g0235	5	412	0.0121	570	c.205 others(585): Show c.2059-80_2059-79insCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCAC CGCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(563): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0153 a0011c0015t0001g0153	1	412	0.0024	570	c.205 others(585): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACC GCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCCG ACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513804	G G	GAGGGGTC others(563): Show GAGGGGTCAGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGT GGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGG CCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG02622.hp2 HG02647.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0006 a0001c0004 a0004c0006	a0001c0004t0001 a0004c0006t0001 a0001c0004t0001 a0004c0006t0001	a0001c0004t0001g0160 a0004c0006t0001g0144 a0001c0004t0001g0160 a0004c0006t0001g0144	2	412	0.0049	570	c.205 others(585): Show c.2059-93_2059-92insACTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCT CCTCACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCAC GCCGACCCCTCCTCACTCCCCACTGCCCACGCTGACCCCT	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513834	A A	GAGGGGTC others(563): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGT GGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00609.hp2 others(5): Show HG00438.hp2 HG00597.hp1 HG00609.hp2 HG01993.hp1 HG02132.hp1 NA18983.hp1 NA18990.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0007 a0001c0004t0001g0166 a0001c0004t0001g0224 a0001c0001t0001g0007 a0001c0004t0001g0166 a0001c0004t0001g0224	8	412	0.0194	570	c.205 others(582): Show c.2058+94delTinsACTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(563): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGG GAGTGAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGG GGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGTGGGGGGTGAGTGGGGTGA GTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTG AGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGT GAGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGT GGGGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0058 a0002c0058	a0002c0058t0004 a0002c0058t0004	a0002c0058t0004g0219 a0002c0058t0004g0219	1	292	0.0034	570	c.261 others(587): Show c.261+1222_261+1223insAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGG TGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTG TGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTG TGGGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGT GAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGG TGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTG GGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA GTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1076341	G G	GGGGGGAG others(563): Show GGGGGGAGGCTGAGGCTACGGGGACTCCGTAGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGT GGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGTCTACGGGGACTCCGT GCGGGGTGGCTGAGTCTACGGGGACTCCGTGCGGGGAGGCTGAGGCTATG GGGACTCCGTGCGGGGTGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGC TGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCAT GGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATG GGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGC TGAGGCTATGGGGACTCCGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	570	c.-23 others(581): Show c.-2336_-2335insGACGGAGTCCCCATAGCCTCAGCCTCCCCCCACG GAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC TCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCATGGAGTCCCCAT AGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCCCGGCACG GAGTCCCCATAGACTCAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCC TCCCCGCACGGAGTCCCCGTAGACTCAGCCACCCCGCACGGAGTCCCCGT AGACTCAGCCTCCCGGCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACG GAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCC TCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGT AGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACG GAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCC TCCCCCTACGGAGTCCCCGTAGCCTCAGCCTCCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2036		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076597	C C	CGGGGACT others(563): Show CGGGGACTCCGTGCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGTG GCTGAGTCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCC GTGCGGGGTGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTA TGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCATGGGGGGAG GCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCC GTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTA TGGGGACTCCGTCGGGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGGAG GCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCC GTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTA TGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAG GCTGAGGCTATGGGGACTCCATGCGGGGAGGCTGAGGCTATGGGGACTCC GTGGGGGGAGGCTGAGGCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	324	0.0031	570	c.-25 others(581): Show c.-2592_-2591insATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAG CCTCAGCCTCCCCGCATGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGA GTCCCCATAGCCTCAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCCTC CCCGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAG CCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCGACGGA GTCCCCATAGCCTCAGCCTCCCCCGACGGAGTCCCCATAGCCTCAGCCTC CCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAG CCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCATGGA GTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTC CCGGCACGGAGTCCCCATAGACTCAGCCACCCCGCACGGAGTCCCCATAG CCTCAGCCTCCCCGCACGGAGTCCCCATAGACTCAGCCACCCCGCACGGA GTCCCCGTAGACTCAGCCTCCCGGCACGGAGTCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2292		chr1	TogoVar
SART1_chr11_65956734_65985137	65971486	A A	AGCTGCTG others(563): Show AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCT GCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGT GGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGA GCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGT GGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGG GGATGGTGGGATTCATGAGCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0064 a0001c0003t0003g0064	1	384	0.0026	570	c.157 others(589): Show c.1572+3669_1572+3670insCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGG ATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCAGGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	T T	TTACAGTA others(563): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTAT TTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAG TATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATA AATACAGTATTTATTTATAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02273.hp2 HG02896.hp2 others(1): Show HG01981.hp2 HG02273.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0012 a0001c0002t0016 a0001c0002t0004 a0001c0002t0012 a0001c0002t0016	a0001c0002t0004g0056 a0001c0002t0012g0010 a0001c0002t0016g0017 others(1): Show a0001c0002t0004g0056 a0001c0002t0012g0010 a0001c0002t0016g0017 a0001c0002t0016g0043	4	332	0.0121	570	c.632 others(587): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTAT TTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAG TATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATA AATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(563): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCT CCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0117 a0001c0001t0029g0117	1	150	0.0067	570	c.77- others(587): Show c.77-45374_77-45373insTCCCCTCCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCCTCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCA TCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(563): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCACCCCTCCCCCCTCCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCAT CCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0141 a0002c0002t0031g0141	1	150	0.0067	570	c.77- others(587): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCACCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCT CCCCATCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(563): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTTCCC CCTCCCCTCCCCACCCCCATCCCCCTCCCACCCTCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCCCATCCTCCCCCTCCCCCTCCCTCCCTCCCCTCC CCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCCTCCCCTACCCTCCCCACT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCTCCCTCCCTCCCCCTCCTCCATCCCTCCCCTCCCC CCTCCCCCCCCTCCCTCCCCCCTCCCTCCCCCTCCCCCCTCCCCTTCCCC CCTCCCCCTCCCCTCCCCCTCCCCCCTCCACCCCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCC CCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0021 a0001c0001t0008g0021	1	150	0.0067	570	c.77- others(587): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CTTCCCCCTCCCCTCCCCACCCCCATCCCCCTCCCACCCTCCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCCCATCCTCCCCCTCCCCCTCCCTCCCTC CCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCCTCCCCTACCCTC CCCACTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCTCCCTCCCTCCCCCTCCTCCATCCCTCCC CTCCCCCCTCCCCCCCCTCCCTCCCCCCTCCCTCCCCCTCCCCCCTCCCC TTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCACCCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(563): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCT CCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0125 a0001c0001t0033g0125	1	158	0.0063	570	c.22+ others(587): Show c.22+36337_22+36338insTCCCCTCCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCCTCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCA TCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(563): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCACCCCTCCCCCCTCCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCAT CCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0055 a0002c0002t0055	a0002c0002t0055g0067 a0002c0002t0055g0067	1	158	0.0063	570	c.22+ others(587): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCACCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCT CCCCATCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(563): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTTCCC CCTCCCCTCCCCACCCCCATCCCCCTCCCACCCTCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCCCATCCTCCCCCTCCCCCTCCCTCCCTCCCCTCC CCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCCTCCCCTACCCTCCCCACT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCTCCCTCCCTCCCCCTCCTCCATCCCTCCCCTCCCC CCTCCCCCCCCTCCCTCCCCCCTCCCTCCCCCTCCCCCCTCCCCTTCCCC CCTCCCCCTCCCCTCCCCCTCCCCCCTCCACCCCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCC CCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0157 a0001c0001t0021g0157	1	158	0.0063	570	c.22+ others(587): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CTTCCCCCTCCCCTCCCCACCCCCATCCCCCTCCCACCCTCCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCCCATCCTCCCCCTCCCCCTCCCTCCCTC CCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCCTCCCCTACCCTC CCCACTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCTCCCTCCCTCCCCCTCCTCCATCCCTCCC CTCCCCCCTCCCCCCCCTCCCTCCCCCCTCCCTCCCCCTCCCCCCTCCCC TTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCACCCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHANK1_chr19_50654255_50724802	50678865	G G	GATGGGGA others(563): Show GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGG AGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG TGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAG GATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGG GGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATG GGGAGGGGTCAGGGTGTGGGGAGGGGTGAGGGTGATGGGGAGGGGTCAGG GTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGG TCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTG AGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAG AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGT GATGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG02647.hp2 others(3): Show HG02055.hp1 HG02622.hp1 HG02647.hp2 HG02886.hp1 HG03516.hp2 NA19240.hp2	a0001 a0009 a0012 a0001 a0009 a0012	a0001c0003 a0001c0013 a0009c0025 others(1): Show a0001c0003 a0001c0013 a0009c0025 a0012c0026	a0001c0003t0004 a0001c0003t0017 a0001c0003t0074 others(3): Show a0001c0003t0004 a0001c0003t0017 a0001c0003t0074 a0001c0013t0024 a0009c0025t0004 a0012c0026t0060	a0001c0003t0004g0079 a0001c0003t0017g0086 a0001c0003t0074g0124 others(3): Show a0001c0003t0004g0079 a0001c0003t0017g0086 a0001c0003t0074g0124 a0001c0013t0024g0136 a0009c0025t0004g0282 a0012c0026t0060g0038	6	316	0.0190	570	c.257 others(589): Show c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCA TCACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCC CTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCT CCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGA CCCCTCCCCATCACCCTCACCCCTCCCCACACCCTGACCCCTCCCCATCA CCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCC CCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCCTGAC CCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCC TGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCA TCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50678920	G G	GATGGGGA others(563): Show GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGT CAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCA GTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA GGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTG ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGA GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG TGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGAAGGGG TCAGGGTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTG AGGGTGATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGG AGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGT GATGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0099 a0001c0003t0099	a0001c0003t0099g0308 a0001c0003t0099g0308	1	316	0.0032	570	c.257 others(589): Show c.2578-6807_2578-6806insTCACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCA TCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCC CTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCT TCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCAT CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCC TGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCC ATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACA CCCCCCCATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCC TTCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHOX_chrX_625791_656584	628682	T T	TCTGTCTG others(563): Show TCTGTCTGTCTCTCTCTTTCTCTCTCTCTATCTCTCCCTCTCTCTCCCTG TCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTGTG TTTCTCTATCTCCATCTCTCTGTCTCTCCCTTTGTCTCTCTCTGTCTCTC CCTCTCTCTCCCTGTCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTG TCTCTCCCTGTGTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCTTGTCTG TTTCTCTCTCTCCATCTGTCTGTCTCTCTCTTTCTCTCTCTATCTCTCCC TCTCTCTCCCTGTCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTC TCTCCCTGTGTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTCTGTT TCTCTCTCTCCATCTGTCTGTCTCTCTCTTTCTCTCTCTATCTCTCCCTC TCTCTCCCTGTCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTC TCCCTGTCTGTTTCTCTCTCTCCATCTGTCTGTCTCTCTCTTTCTCTCTC TCTATCTCTCCCTCTCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0133 a0001c0001t0100g0133	1	220	0.0046	570	c.-22 others(581): Show c.-2216_-2215insCTGTCTGTCTCTCTCTTTCTCTCTCTCTATCTCT CCCTCTCTCTCCCTGTCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCT GTCTCTCCCTGTGTGTTTCTCTATCTCCATCTCTCTGTCTCTCCCTTTGT CTCTCTCTGTCTCTCCCTCTCTCTCCCTGTCTGTGTCTCTCTTTCTCTCT CTCCATCTCTCTCTGTCTCTCCCTGTGTTTCTCTCTCTCCATCTCTCTCT GTCTCTCCTTGTCTGTTTCTCTCTCTCCATCTGTCTGTCTCTCTCTTTCT CTCTCTATCTCTCCCTCTCTCTCCCTGTCTGTGTCTCTCTTTCTCTCTCT CCATCTCTCTCTGTCTCTCCCTGTGTTTCTCTCTCTCCATCTCTCTCTGT CTCTCCCTGTCTGTTTCTCTCTCTCCATCTGTCTGTCTCTCTCTTTCTCT CTCTATCTCTCCCTCTCTCTCCCTGTCTGTGTCTCTCTTTCTCTCTCTCC ATCTCTCTCTGTCTCTCCCTGTCTGTTTCTCTCTCTCCATCTGTCTGTCT CTCTCTTTCTCTCTCTCTATCTCTCCCTCTCTCTCC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		2108		chrX	TogoVar
SLC35F1_chr6_117902264_118322671	117923600	T T	TATATACG others(563): Show TATATACGTATATGTACATATGTACATATATACATATGTATATATGCGTA TATGTACATATGTACATATATACATATGTATATATGCATATATGTACATA TGTACATATATACATATGTATATATGCATATATGTACATATGTACATATA TACATATGTATATATGCATATATGTACATATGTACATATATACATATGTA TATATGCATATATGTACATATGTACATATATACATATGTATATATGCATA TATGTACATATGTACATATGTACATATGTATATATGCATATATGTACATA TGTACATATGTACATATGTATATATGCATATATGTACATATGTACATATG TACATATGTATATATGCATATATGTACATATGTACATATGTACATATGTA TATATGCATATATGTACATATGTACATATGTACATATGTATATATACATA TATGTACATATGTACATATATACATATGTGTACATATGTACATATATACA TATGTATATATACATATATGTACATATGTACATATATACATATGTATATA TACATATATGTACATATGTAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	182	0.0055	570	c.173 others(589): Show c.173+15706_173+15707insCGTATATGTACATATGTACATATATA CATATGTATATATGCGTATATGTACATATGTACATATATACATATGTATA TATGCATATATGTACATATGTACATATATACATATGTATATATGCATATA TGTACATATGTACATATATACATATGTATATATGCATATATGTACATATG TACATATATACATATGTATATATGCATATATGTACATATGTACATATATA CATATGTATATATGCATATATGTACATATGTACATATGTACATATGTATA TATGCATATATGTACATATGTACATATGTACATATGTATATATGCATATA TGTACATATGTACATATGTACATATGTATATATGCATATATGTACATATG TACATATGTACATATGTATATATGCATATATGTACATATGTACATATGTA CATATGTATATATACATATATGTACATATGTACATATATACATATGTGTA CATATGTACATATATACATATGTATATATACATATATGTACATATGTACA TATATACATATGTATATATACATATATGTACATATGTACATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923600	T T	TATATACG others(563): Show TATATACGTATATGTACATATGTACATATATACATATGTATATATGCGTA TATGTACATATGTACATATATACATATGTATATATGCATATATGTACATA TGTACATATATACATATGTATATATGCATATATGTACATATGTACATATA TACATATGTATATATGCATATATGTACATATGTACATATATACATATGTA TATATGCATATATGTACATATGTACATATGTACATATGTATATATGCATA TATGTACATATGTACATATGTACATATGTATATATGCATATATGTACATA TGTACATATGTACATATGTATATATGCATATATGTACATATGTACATATG TACATATGTATATATGCATATATGTACATATGTACATATGTACATATGTA TATATGCATATATGTACATATGTACATATGTACATATGTATATATACATA TATGTACATATGTACATATATACATATGTGTACATATGTACATATATACA TATGTATATATACATATATGTACATATGTACATATATACATATGTATATA TACATATATGTACATATGTAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	182	0.0055	570	c.173 others(589): Show c.173+15706_173+15707insCGTATATGTACATATGTACATATATA CATATGTATATATGCGTATATGTACATATGTACATATATACATATGTATA TATGCATATATGTACATATGTACATATATACATATGTATATATGCATATA TGTACATATGTACATATATACATATGTATATATGCATATATGTACATATG TACATATATACATATGTATATATGCATATATGTACATATGTACATATGTA CATATGTATATATGCATATATGTACATATGTACATATGTACATATGTATA TATGCATATATGTACATATGTACATATGTACATATGTATATATGCATATA TGTACATATGTACATATGTACATATGTATATATGCATATATGTACATATG TACATATGTACATATGTATATATGCATATATGTACATATGTACATATGTA CATATGTATATATACATATATGTACATATGTACATATATACATATGTGTA CATATGTACATATATACATATGTATATATACATATATGTACATATGTACA TATATACATATGTATATATACATATATGTACATATGTACATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC6A3_chr5_1387794_1450440	1414453	G G	GCAGGGCG others(563): Show GCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGA AGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTG GGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAG GGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGG GAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGG TGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGG AGGGGCAGGGCAGAGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCG GGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCGCTG GGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCG GGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGG CGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGC TGGGTGGGGGGCCTGGAGGGT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	373	0.0027	570	c.115 others(587): Show c.1156+237_1156+238insACCCTCCAGGCCCCCCACCCAGCGCCTT CCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCC CCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCC CCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCC TTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTG CCCCTCCCGGCCCCCCACCCAGCGCCTTCTCTGCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTG CCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCC TGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGG CCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAG TGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGC CCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414498	G G	GGAGAAGG others(563): Show GGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC TGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGG GCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGG CCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCA GGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGG CACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGG GGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGG CAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCAGGGAA GGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGG GGGGCCGGGAGGGGCAGGGAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	373	0.0027	570	c.115 others(587): Show c.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCCA GCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTG CCCTGACCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCC CGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC TGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCT CCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC CCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCC CTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCC CACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT TCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(563): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATTATATATTATAATATATAATA TATAATATATTATAATATATAATATATTATATATTATAATATATAATATA TTATATATTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAAAATATTATATTTTATAATATATAAAATATTATAT TTTATAATATATAAAATATATTATATTTTATAATATATAAAATATATTAT ATTTTATAATATATAATATATATTATATTTTATAATATATAATATATATT ATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03942.hp1 HG01243.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0011 a0001c0001t0001g0015	2	340	0.0059	570	c.17 others(589): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATTTTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAAAATATAATATATTATATATTATAATATATAATATAT TATATATTATAATATATAATATATTATATATTATAATATATTATATATTA TATATTATAATATATAATATATTATATATTATAAAATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATTATATATT ATAAAATATAATATATTATATATTATAAAATATAATATATATTATATATT ATAAAATATAATATATATTATATATTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD3_chr1_245744347_246512279	246071928	A A	ACTGTGCT others(563): Show ACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGT GCTCTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGA TTCATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGG GGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTA GTTCTGGGGAGGGATTCATGTGCTTTCCACTGTGCTCACTGTGGATGCTT CCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTG GATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCT CACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCATGTGCTTTCCA CTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTG CTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGAT TCATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGG GAGGGATTCGTGTGCTTTCCG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	150	0.0067	570	c.532 others(591): Show c.532-141992_532-141991insCGGAAAGCACACGAATCCCTCCCC AGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACATGAATC CCTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCAC ACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGG AAAGCACATGAATCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGAGC ACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCAC AGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAG CATCCACAGTGAGCACAGTGGAAAGCACATGAATCCCTCCCCAGAACTAA CAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCA GAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACATGAATCC CTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGTGGAGAGCACA CGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246071928	A A	ACTGTGCT others(563): Show ACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGT GCTCTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGA TTCATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGG GGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTA GTTCTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCTT CCTGTTAGTTCTGGGGAGGGATTCATGTGCTTTCCACTGTGCTCACTGTG GATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCT CACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCA CTGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCATGTG CTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGAT TCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGG GAGGGATTCGTGTGCTTTCCG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0099 a0002c0003t0001g0099	1	150	0.0067	570	c.532 others(591): Show c.532-141992_532-141991insCGGAAAGCACACGAATCCCTCCCC AGAACTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATC CCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCAC ATGAATCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGTGG AAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGC ACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCAC AGTGAGCACAGTGGAAAGCACATGAATCCCTCCCCAGAACTAACAGGAAG CATCCACAGTGAGCACAGCGGAAAGCACACGAATCCCTCCCCAGAACTAA CAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCA GAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACATGAATCC CTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGTGGAGAGCACA CGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246072200	A A	ATGTGCTT others(563): Show ATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGA GGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTT CTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCTTCCT GTTAGTTCTGGGGAGGGATTCATGTGCTTTCCACTGTGCTCACTGTGGAT GCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCAC TGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTG TGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCATGTGCTT TCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCG TGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAG GGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTC TGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTG TTAGTTCTGGGGAGGGATTCG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	150	0.0067	570	c.532 others(591): Show c.532-142264_532-142263insCGAATCCCTCCCCAGAACTAACAG GAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAA CTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTC CCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGA ATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAG CACATGAATCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAG TGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTG AGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATC CACAGTGAGCACAGTGGAAAGCACATGAATCCCTCCCCAGAACTAACAGG AAGCATCCACAGTGAGCACAGCGGAAAGCACACGAATCCCTCCCCAGAAC TAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCC CCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325070	G G	GGGGGGGC others(563): Show GGGGGGGCAGGAAGGAGGGAGAAGGAGTCGCGGGGGCGGGAAGGAGGGAG AAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGG AGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGCGGGGG CGGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTC GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAA GGAGTCGGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGG AGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGC AGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTC GGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAG AAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAG GAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGC GGGAAGGAGGGAGAAGGAGTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	150	0.0067	570	c.531 others(587): Show c.531+2130_531+2131insGACTCCTTCTCCCTCCTTCCCGCCCCCC GACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCTG CCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTC CTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCT TCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCC GACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCT TCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCGC GACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTC CTTCCCGCCCCCGCGACTCCTTCTCCCTCCTTCCTGCCCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SOCS7_chr17_38346844_38410593	38387113	A A	ATATATAT others(563): Show ATATATATATGTGTGTGTATATATATATATATATGTGTGTATATATATAT ATGTGTGTATATATATATATATGTGTGTATATATATATATATATGTGTGT ATATATATATATGTGTGTATATATATATATATGTGTGTATATATATATAT ATGTGTGTATATATATATATATGTGTGTATATATATATATATATATGTGT GTATATATATATATGTGTGTATATATATATATGTGTGTATATATATATAT ATGTGTGTATATATATATATATGTGTGTATATATATATATATGTGTGTGT ATATATATATATGTGTGTGTATATATATATATGTGTGTGTATATATATAT ATGTGTGTGTATATATATATATGTGTGTATATATATATATATATGTGTGT ATATATATATGTGTGTATATATATATATGTGTGTATATATATATATGTGT GTGTATATATATATATGTGTGTATATATATATATATGTGTGTATATATAT ATATGTGTGTATATATATATATATGTGTGTATATATATATATATATGTGT GTATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0286 a0001c0002t0008g0286	1	289	0.0035	570	c.168 others(589): Show c.1682-8187_1682-8186insGTGTGTGTATATATATATATATATGT GTGTATATATATATATGTGTGTATATATATATATATGTGTGTATATATAT ATATATATGTGTGTATATATATATATGTGTGTATATATATATATATGTGT GTATATATATATATATGTGTGTATATATATATATATGTGTGTATATATAT ATATATATATGTGTGTATATATATATATGTGTGTATATATATATATGTGT GTATATATATATATATGTGTGTATATATATATATATGTGTGTATATATAT ATATATGTGTGTGTATATATATATATGTGTGTGTATATATATATATGTGT GTGTATATATATATATGTGTGTGTATATATATATATGTGTGTATATATAT ATATATATGTGTGTATATATATATGTGTGTATATATATATATGTGTGTAT ATATATATATGTGTGTGTATATATATATATGTGTGTATATATATATATAT GTGTGTATATATATATATGTGTGTATATATATATATATGTGTGTATATAT ATATATATATGTGTGTATATATATATATATGTGTGTATATATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar

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Search Results (Total: 10000 hits)