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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Select column to sort.

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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
FAM174C_chr19_1270530_1284228	1282414	A A	AAGGAGAG others(664): Show AAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGA GGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGG GAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGT GAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAG GGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGA AGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAG GGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAG GAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGT GAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAG GGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGT GTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAA AGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAATGGGGAAGAGAGTGGG AAGGGGGAGGAGGAGGGGAGGGTAGTATGAAGGGGGAAGGAAGGAGGGAG GGGAGAAGGGTGGAAGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0005 a0001c0006t0001g0005	1	254	0.0039	671	c.36 others(682): Show c.3637_*3638insAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGT GAAGGGAAGGAGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGG GGAAAGGTGTGAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGG GAGGGAGGAGGGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGG GAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAG GGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAG GAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGA GGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGA GAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGG GTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGA GGGAGGGAGGAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGG GGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT GGGGAAGAGAGTGGGAAGGGGGAGGAGGAGGGGAGGGTAGTATGAAGGGG GAAGGAAGGAGGGAGGGGAGAAGGGTGGAAGGGGAGG	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3187		chr19	TogoVar
FLT3_chr13_27998274_28105576	27998945	T T	TTATATGC others(664): Show TTATATGCATATACATATATATTTATATGCATATAAATATATATTTATAT ACATATAAATATATATGTATATACATATAAATATATGTATATACATATAA ATATATATGTATATACATATAAATATATATGTATATACATATATATATGT ATATACATATATATATGTATATACATATATATATGTATATACATATATAT ATATGTATATACATATAAATATATATGTATATACATATAAATATATATGT ATATACATATAAATATATATGTATGTATATTATATACATATAAATATATA TGTATGTATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACATACATATAAA TATATACATTTATATACATATAAATATATACATATATACATATAAATATA TATTTATATACATATAAATATATATATTTATATATATTTATATATATATA AATATATATATATTTATATATATATAAATATATATATATTTATATATATA TAAATATATATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0266 a0004c0005t0001g0266	1	292	0.0034	671	c.51 others(682): Show c.5106_*5107insTATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATATA AATATATATAAATATATATATTTATATGTATATAAATATATATTTATATG TATATATGTATATATTTATATGTATATAAATGTATATATTTATATGTATG TAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAAATATATATATTTATATGTATACATACATATATATTTATA TGTATATAATATACATACATATATATTTATATGTATATACATATATATTT ATATGTATATACATATATATTTATATGTATATACATATATATATATGTAT ATACATATATATATGTATATACATATATATATGTATATACATATATATAT GTATATACATATATATTTATATGTATATACATATATATTTATATGTATAT ACATATATTTATATGTATATACATATATATTTATATGTATATAAATATAT ATTTATATGCATATAAATATATATGTATATGCATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4328		chr13	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCCGTGCCCCTCCCCCCCAAACAC ACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	671	c.31 others(682): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAG TGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGT TTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTG GGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGG GGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGG GAGGGGCACGGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00544.hp2 others(38): Show HG00140.hp1 HG00280.hp1 HG00544.hp2 HG00741.hp1 HG01070.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01346.hp1 HG01517.hp2 HG01891.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02965.hp2 HG03130.hp2 HG03491.hp2 HG03834.hp2 NA18943.hp2 NA18952.hp2 NA18963.hp2 NA18964.hp1 NA18980.hp2 NA18983.hp1 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19079.hp2 NA19082.hp2 NA19088.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0015	41	422	0.0972	671	c.31 others(682): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGC CACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGT GTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG TTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTT GGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGG GGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGG GGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	671	c.31 others(682): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGC CACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGT GTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG TTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTT GGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGG GGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGG GGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCTTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18952.hp1 NA18971.hp1 others(1): Show NA18947.hp1 NA18952.hp1 NA18971.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	422	0.0095	671	c.31 others(682): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCAAGGGGCCGGGGGCAGC CACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGT GTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG TTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTT GGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGG GGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGG GGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCTGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	671	c.31 others(682): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGC CACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGT GTGTTTGGGGGGGCGGGCACAGGGCCGGGGGCAGCCACACGGGCAGTGTG TTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTT GGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGG GGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGG GGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	1	422	0.0024	671	c.31 others(682): Show c.3125_*3126insGTGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAG TGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGT TTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTG GGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGG GGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGG GGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(664): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01981.hp1 NA18961.hp2 others(1): Show HG00733.hp1 HG01981.hp1 NA18961.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	422	0.0095	671	c.31 others(682): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAG TGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGT TTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTG GGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGG GGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGG GGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GRM3_chr7_86638909_86869879	86655539	C C	CAAAAATT others(664): Show CAAAAATTAGTATGCCTAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAA AAAAAAAAAAAAAAAAAAAAAAAAGAAAACGTGGTACATATACATAACGG AATACTGTGAAGCCATAAAAAGGAATACCACCATGGAATACTATGCAGCC ATAAAAAGGAACAAGATCATGTCCTTTGTAGGGACATGGATGGAACTGGA AGCCATTATCCTCAGCAAACTAATAAAGGGGACACAAAACCAAACACCGC ATGTTCTCACTTATAAGTGGGAGCTGAACAATGAGAACATATGGACACAG GGAGGGGAACAACACACACTGGGGCCTGTTTGGGGGTGGGGTGGGAGGAG GGAGAGCATTAGGAAAAATAGCTAATGCATGCTGGGTTTAATACCTAGGT GATGGGTTGACAGGTGCAGCAAATCACCATGGCACGTTTACCTATGTAAC AAACCTGCATATCCTGCACATGTACCCTGGAACTTAAAATAAAACAATGC ACAACCTTTCCCAAAGAAAGTTTTCTTCCAGAATTCATAAAGAAAGGTTT CTTTGGGAAATGTTGTGCATTGGTATTTAAATAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	216	0.0046	671	c.-14 others(692): Show c.-141+10685_-141+10686insCGCACCAGCATGGCACATGTATAC ATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTA TAATAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAACGTGGTACATATAC ATAACGGAATACTGTGAAGCCATAAAAAGGAATACCACCATGGAATACTA TGCAGCCATAAAAAGGAACAAGATCATGTCCTTTGTAGGGACATGGATGG AACTGGAAGCCATTATCCTCAGCAAACTAATAAAGGGGACACAAAACCAA ACACCGCATGTTCTCACTTATAAGTGGGAGCTGAACAATGAGAACATATG GACACAGGGAGGGGAACAACACACACTGGGGCCTGTTTGGGGGTGGGGTG GGAGGAGGGAGAGCATTAGGAAAAATAGCTAATGCATGCTGGGTTTAATA CCTAGGTGATGGGTTGACAGGTGCAGCAAATCACCATGGCACGTTTACCT ATGTAACAAACCTGCATATCCTGCACATGTACCCTGGAACTTAAAATAAA ACAATGCACAACCTTTCCCAAAGAAAGTTTTCTTCCAGAATTCATAAAGA AAGGTTTCTTTGGGAAATGTTGTGCATTGGTATTTAAATAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGTATGCCTAG	GRM3	ENSG00000198822.11	transcript	ENST00000361669.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
HBQ1_chr16_175459_186179	186136	G G	GGAGGAAC others(664): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	671	c.50 others(682): Show c.5028_*5029insGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGA ACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAG CGACACGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACG GAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4958		chr16	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(664): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGTGGATGG ATGGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGGATGG ATTGGTGGAATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGT TGGATGGATGGATGATGGATGGATGGATGGATGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGATTGGATGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATTGGCTGGATGGATGGATGGATGGATGGATGG ATGGATGGTTGGATGGATGGATGGATGGATTTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGATTGGTTGGTTGG ATGGATGGATGGATGGATGGATTGGATGGATGGATGGATGGATGGTGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGATGGATGGATGGA TGGATGGTGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGCGATGG ATGGATTGGTTGGATGGATGGA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	376	0.0027	671	c.666 others(688): Show c.666-4737_666-4736insTCCATCCATCCAACCAATCCATCCATCG CATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCACCATCCATCCATC CATCCATCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCAC CATCCATCCATCCATCCATCCAATCCATCCATCCATCCATCCATCCAACC AACCAATCCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCAAATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCCATCCATCCATCCAGCCAATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCATCCAATCCATCCATCCATCCATCCATCCAACCATCC ATCCATCCATCCATCCATCCATCCATCCATCATCCATCCATCCAACCATC CATCCATCCATCCATCCAACCATCCATCCATCCATTCCACCAATCCATCC CATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCCATCCATCC ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322912	T T	TATATATA others(664): Show TATATATATGGAATATATACGGAATATATATATAATATATATGGAATATA TATATACGGAATATATATAATATATATACGGAATATATATATACGGAATA TATATAATATATATACGGAATATATATATAATATATATATAATATATATA CGGAATATATATATAATATATAAATGGAATATATATACGGAATATATATA TAATATATAAATGGAATATATATATACGGAATATATATATAATATATAAA TGGAATATATATATACGGAATATATATATAATATATATATGGAATATATA TATACGGAATATATATATAATATATATATGGAATATATATATACGGAATA TATATATAATATATATATGGAATATATATATACGGAATATATATATTATA TATATGGAATATATATATACGGAATATATATATAATATATATATGGAATA TATATACGGAATATATATATATGGATATATATACGGAATATATATATATG GAATATATATATATGGAATGTGTATATATGGAATATATATATATGGAATG TGTATATATGGAATATATATATATGGAATGTGTATATATGGAATATATAT ATGGAATGTGTATATATGGAATATATATATGGAATATATATATGGAATAT ATATATGGAATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	323	0.0031	671	c.-21 others(682): Show c.-2144_-2143insATATATATGGAATATATACGGAATATATATATAA TATATATGGAATATATATATACGGAATATATATAATATATATACGGAATA TATATATACGGAATATATATAATATATATACGGAATATATATATAATATA TATATAATATATATACGGAATATATATATAATATATAAATGGAATATATA TACGGAATATATATATAATATATAAATGGAATATATATATACGGAATATA TATATAATATATAAATGGAATATATATATACGGAATATATATATAATATA TATATGGAATATATATATACGGAATATATATATAATATATATATGGAATA TATATATACGGAATATATATATAATATATATATGGAATATATATATACGG AATATATATATTATATATATGGAATATATATATACGGAATATATATATAA TATATATATGGAATATATATACGGAATATATATATATGGATATATATACG GAATATATATATATGGAATATATATATATGGAATGTGTATATATGGAATA TATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTGTAT ATATGGAATATATATATGGAATGTGTATATATGGAATATATATATGGAAT ATATATATGGAATATATATATGGAATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2057		chr21	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(664): Show TAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0132 a0002c0003t0001g0132	1	308	0.0033	671	c.127 others(690): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63442935	C C	CCACCACC others(664): Show CCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACC ATTACCATCACCATCACCACCATCACCATCACCACCAACATCACATCAAC ACCATGACCACCATCACCACCACCAAAACCATCACCACCACCATCACCAC CACCACCACCACCACCATCACTATCACCACCATCACCATCACCACCACCA CCACCACCACCATCACCACCACCACCATCACCACCATCACCATCACCACC ACCACCACCATCACCACCATCACCATCACCACCATCACCATCACCACCAC CACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCA CCACCACCACCACCACCACCATCACCATCACCACCACCATCACCATTATC ACCACCACCATCACCACCATCACCACCACCACCATCACCATCACCACCAC CATCACCATCATCACCATCACCACCACCACCACCATCACCACCATTACCA TCACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACC ACCATTACCACCACCATCACCATCACCATCACCACCACCACCACCACCAC CATCACCATCACCACCACCATCACCATTATCACCACCACCATCACCACCA TCACCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0047 a0001c0002t0002g0047	1	330	0.0030	671	c.691 others(686): Show c.691-405_691-404insATGGTGATGGTGGTGGTGGTGATGGTGGTG ATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGT GGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTAA TGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGATGGTAATG GTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGTGATGGTGGTGGT GATGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGG TGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTG ATGGTGATGGTGGTGGTAATGGTGGTGGTAATGGTGATGGTGGTGGTGGT GATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGATGGTGATGGTGGTGATAGTGATGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGATGGTTTTGGTGGTGGTGATGGTGGTCATGGTGTTGATGT GATGTTGGTGGTGATGGTGATGGTGGTGATGGTGATGGTAATGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGATGATGGTGATGGTGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(664): Show CAAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAG CTCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGA TGGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACT AAAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAAC AATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATG TTTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAA TTCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTT GAGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGC AGTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGAT CATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCC GTCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTG TAATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGA AGGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAG CAAGGCTCTGTCTAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	286	0.0035	671	c.52 others(682): Show c.5260_*5261insTTTTTTTTTAGACAGAGCCTTGCTCTGGCTGGAA TGCAGTGGTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAG TGATTCTCCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTG CCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCA TGTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTC GGCCTCCCAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTA CAACTTTTATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTC CAACCATCTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAA CAAGTGCAAATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTAT CTTCTCTGTATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAA CCTCGGCATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGT TCTAGCACTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCC TAGTTCAGACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCAT CTACCTCCATCATCCACTTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(664): Show CAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGC TCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGAT GGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTA AAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACA ATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGT TTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAAT TCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTG AGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCA GTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATC ATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGT AATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAA GGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGC AAGGCTCTGTCTAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01261.hp1 HG01952.hp1 others(15): Show HG00099.hp2 HG01261.hp1 HG01952.hp1 HG02071.hp1 HG02165.hp2 HG02683.hp2 HG03579.hp1 HG04204.hp1 NA18965.hp1 NA18969.hp2 NA18984.hp1 NA18999.hp2 NA19070.hp1 NA19076.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0099 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0001t0001g0265 a0001c0001t0001g0274 a0001c0001t0005g0055 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0095	18	286	0.0629	671	c.52 others(682): Show c.5260_*5261insTTTTTTTTTTAGACAGAGCCTTGCTCTGGCTGGA ATGCAGTGGTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAA GTGATTCTCCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGT GCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTT CGGCCTCCCAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCT ACAACTTTTATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTT CCAACCATCTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGA ACAAGTGCAAATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTA TCTTCTCTGTATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATA ACCTCGGCATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAG TTCTAGCACTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTC CTAGTTCAGACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCA TCTACCTCCATCATCCACTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(664): Show CAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGC TCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGAT GGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTA AAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACA ATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGT TTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAAT TCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTG AGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCA GTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATC ATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGT AATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAA GGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGC AAGGCTCTGTCTTAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	286	0.0035	671	c.52 others(682): Show c.5260_*5261insTTTTTTTTTAAGACAGAGCCTTGCTCTGGCTGGA ATGCAGTGGTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAA GTGATTCTCCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGT GCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTT CGGCCTCCCAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCT ACAACTTTTATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTT CCAACCATCTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGA ACAAGTGCAAATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTA TCTTCTCTGTATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATA ACCTCGGCATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAG TTCTAGCACTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTC CTAGTTCAGACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCA TCTACCTCCATCATCCACTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(664): Show CAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGC TCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGAT GGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTA AAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACA ATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGT TTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAAT TCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTG AGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCA GTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCGAACGGGTGGATCA TCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCGT CTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGTA ATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAAG GTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGCA AGGCTCTGTCTAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0084 a0001c0001t0015g0084	1	286	0.0035	671	c.52 others(682): Show c.5260_*5261insTTTTTTTTTTTAGACAGAGCCTTGCTCTGGCTGG AATGCAGTGGTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCA AGTGATTCTCCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATG TGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCAC CATGTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGT TCGCCTCCCAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCT ACAACTTTTATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTT CCAACCATCTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGA ACAAGTGCAAATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTA TCTTCTCTGTATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATA ACCTCGGCATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAG TTCTAGCACTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTC CTAGTTCAGACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCA TCTACCTCCATCATCCACTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(664): Show CAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGCT CCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGATG GAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTAA AATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACAA TTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGTT TTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAATT CCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTGA GAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCAG TGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATCA TCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCGT CTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGTA ATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAAG GTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGCA AGGCTCTGTCTAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	286	0.0035	671	c.52 others(682): Show c.5260_*5261insTTTTTTTTTTTAGACAGAGCCTTGCTCTGGCTGG AATGCAGTGGTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCA AGTGATTCTCCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATG TGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCAC CATGTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGT TCGGCCTCCCAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCC TACAACTTTTATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGT TCCAACCATCTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTG AACAAGTGCAAATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTT ATCTTCTCTGTATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTAT AACCTCGGCATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCA GTTCTAGCACTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGT CCTAGTTCAGACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATC ATCTACCTCCATCATCCACTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
LHPP_chr10_124456823_124619141	124471472	T T	TATTTTAT others(664): Show TATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATTTA TATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTTA TATATATTTATATGTATTTATGTATATATTTATATGTATTTATATATATT TATATATTTATATGTATTTATACATATATATTTATATGTATTTATATATA TTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATATTTATATATATTTATATATATTTATATATATATTTATATAT ATATTTATATATATATTATTTA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0020	1	260	0.0039	671	c.125 others(688): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATTTATATATTTATGTATATATTTATATATATTT ATATATTTATGTATAAATTTATATATATTTATATGTATTTATGTATATAT TTATATGTATTTATATATATTTATATATTTATATGTATTTATACATATAT ATTTATATGTATTTATATATATTTATATATATTTTTTATGTATTTATATA TATTTATATATATATTTATATATATTTATATATATATTTATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATATTTATATA TATTTATATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATATTTATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATATTATTTA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(664): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCACGCC TGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA TATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACA AAAGTACCTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTT GCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCC TCCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02071.hp1 HG02027.hp2 HG02071.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0006 a0002c0003t0003 a0002c0003t0006	a0002c0003t0003g0273 a0002c0003t0006g0035 a0002c0003t0003g0273 a0002c0003t0006g0035	2	448	0.0045	671	c.56 others(682): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAAC TGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTT GCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAA GCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATATTTTTGTATTTT TAGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGA CCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCAT GAGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCG GGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAG GTGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGT GAAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCG GGTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(664): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGAC AAAAGTACCTTCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTT GCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCC TCCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0349 a0002c0003t0001g0349	1	448	0.0022	671	c.56 others(682): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAACT GGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTT GCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAA GCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTT TAGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGA CCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCAT GAGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCG GGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAG GTGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGT GAAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCG GGTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(664): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGAC AAAAGTACCTTCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTT GCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCC TCCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0319 a0002c0003t0001g0319	1	448	0.0022	671	c.56 others(682): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAACT GGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTT GCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAA GCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTT TAGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGA CCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCAT GAGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCG GGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAG GTGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGT GAAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCG GGTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(664): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATTGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGAC AAAAGTACCTTCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTT GCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCC TCCCAGGTTCAACTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0018 a0003c0004t0018	a0003c0004t0018g0061 a0003c0004t0018g0061	1	448	0.0022	671	c.56 others(682): Show c.5686_*5687insAGAGAATCAGTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAACT GGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTT GCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAA GCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTT TAGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCAATCTCCTGA CCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCAT GAGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCG GGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAG GTGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGT GAAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCG GGTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(664): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATTGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGAC AAAAGTACCTTCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTT GCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCC TCCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02723.hp1 others(1): Show HG02055.hp2 HG02109.hp1 HG02723.hp1 NA19043.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0101 a0003c0004t0001g0134 a0003c0004t0001g0317 others(1): Show a0003c0004t0001g0101 a0003c0004t0001g0134 a0003c0004t0001g0317 a0003c0004t0001g0338	4	448	0.0089	671	c.56 others(682): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAACT GGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTT GCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAA GCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTT TAGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCAATCTCCTGA CCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCAT GAGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCG GGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAG GTGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGT GAAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCG GGTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(664): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAG ACCATCTTTGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACA AAAGTACCTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTT GCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCC TCCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0051 a0002c0003t0006g0051	1	448	0.0022	671	c.56 others(682): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAAC TGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTT GCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAA GCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTG ACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCA TGAGCCACTGCGCCTGGCGAGAACATTTTTTTTTAACAGTTAATTGGCCG GGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAG GTGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGT GAAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCG GGTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(664): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAG ACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAA ATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTG AGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACA AAAGTACCTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTT GCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCC TCCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0339 a0003c0004t0001g0339	1	448	0.0022	671	c.56 others(682): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAAC TGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCT TGCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAA AGCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTT TTAGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTG ACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCA TGAGCCACTGCGCCTGGCGAGAACATTTTTTTTTAACAGTTAATTGGCCG GGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAG GTGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGT GAAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCG GGTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(664): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAG ACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAA ATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTG AGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAA AAGTACCTTCTTTTTTTTTTTTTCTTTTGAGACAGAGTTTCGCTCTTGTT GCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCC TCCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0376 a0002c0002t0001g0376	1	448	0.0022	671	c.56 others(682): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAGAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAA CTGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCT TGCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAA AGCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTT TTAGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTG ACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCA TGAGCCACTGCGCCTGGCGAGAACATTTTTTTTTAACAGTTAATTGGCCG GGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAG GTGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGT GAAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCG GGTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
MAP3K15_chrX_19355059_19520508	19478121	G G	GGGAGAGG others(664): Show GGGAGAGGGGGAGAGGGGGGGAGAGGGGGAGAGGGGGAGAGGGGGGAGAG GGGAGGGGGGGAGGGGGGAGAGGGGAGAGGGGGGAGGGGGGAGAGGGGGA GAGGGGAGAGGGGGGAGGGGGGGAGGGGGAGAGGGGGGGAGGGGGGAGGG GGAGAGGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGGAGGGGG GAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGGAGGGGGG AGAGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGGAGAGGGGGGAGGGGGG AGAGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGA GAGGGGAGAGAGGGGGGAGAGGGGGAGAGGGGAGAGGGGGGAGGGGGGAG AGGGGGGAGGGGAGAGGGGGGAGGGGGGGAGAGGGGGAGGGGGGAGAGGG GGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGAGGGGGGTGAGAGGGG GAGAGGGGGGAGAGAGGGGGGAGGGGGGAGAGGGGAGAGGGGGGAGGGGG GAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGGGGGGAGAGGGGGGAG GGGGGAGGGGGGAGGGGGGAGAGAGGGGGAGAGAGGGGAGAGAGAGGGGG GAGAGAGGGGGAGAGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	163	0.0061	671	c.525 others(688): Show c.525+8360_525+8361insTCCCCCTCTCTCCCCCTCTCTCCCCCCT CTCTCTCCCCTCTCTCCCCCTCTCTCCCCCCTCCCCCCTCCCCCCTCCCC CCTCTCCCCCCTCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCT CCCCCCTCTCCCCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCTCCCCCTC TCACCCCCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCCCCCTCT CCCCCCTCCCCCTCTCCCCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCC CCTCCCCCCTCTCCCCTCTCCCCCTCTCCCCCCTCTCTCCCCTCTCCCCC CTCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCC TCCCCCCTCTCCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCC TCCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCT CCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCCTCTCCCCCTCC CCCCTCCCCCCCTCTCCCCCTCCCCCCCTCCCCCCTCTCCCCTCTCCCCC TCTCCCCCCTCCCCCCTCTCCCCTCTCCCCCCTCCCCCCCTCCCCTCTCC CCCCTCTCCCCCTCTCCCCCTCTCCCCCCCTCTCCCCCTCTCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(664): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTC TCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTC CCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCTCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCCTCC TCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCC CCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC CTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCT CTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTC CCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	140	0.0071	671	c.114 others(690): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCTCCCCTCTTCCCTCCCCT CCTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCG TCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCT CCTCCCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCTCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCC TCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCT CCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCC CCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCC CTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(664): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATAAATATATATAAATATATATAAATATATA TTTAGCTATATTTATATCAGATAAAATGGATTAACAGTCAAAAACTGTAA AATGAGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAA GAGCATATAACTACTGTAAATATATATATTATATATATATAAAACCAAAA CCAGAAGACCTAAATATATATATATATATATAAAAAACCAAAACCAGAGG ACCTAAATATATATATATAAATATATAAATATAAATATATAAATATATAT ATATAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATA TATATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATAT ATTTATATAAATATAAATATATAAATATATATAATTATATATATATTTAG GTCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0016 a0001c0001t0022g0016	1	312	0.0032	671	c.293 others(690): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATAAATATATATAAATATATATAAATATATATTTAGCTATA TTTATATCAGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAA AGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAA CTACTGTAAATATATATATTATATATATATAAAACCAAAACCAGAAGACC TAAATATATATATATATATATAAAAAACCAAAACCAGAGGACCTAAATAT ATATATATAAATATATAAATATAAATATATAAATATATATATATAATTAT ATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATA TTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAA ATATAAATATATAAATATATATAATTATATATATATTTAGGTCCTCTGGT TTTGGTTATATGTATATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(664): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGA AGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGC TAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTGG AGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAG GGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACTA GGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGGA GGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAG GCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTA GGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGAG GGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAG GCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTA GGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAG GGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0164 a0164	a0164c0049 a0164c0049	a0164c0049t0001 a0164c0049t0001	a0164c0049t0001g0054 a0164c0049t0001g0054	1	249	0.0040	671	c.148 others(690): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCAC TCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCATCCATCCTAGCGC TGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCC AGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTC CATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MYRIP_chr3_39804609_40265321	40203787	T T	TATATATG others(664): Show TATATATGTGATATATTTATATATAAATATATGTGATATATTTATATATA AATATTTATATTTTATATATTTATATATTTTATATATTTATATATAAATA TTTATATTTTATATATTTATATATTTTATATATTTATATATAAATATTTA TATTTTATATATTTATATATTTTATGATTTTATAAAATATATAATTTATA TAATTTATAAATTATATAATTTATATATTATATATAATATGTTTATATTA AATATTATATATTATATATTATATATTATATATTTATATTAAATATTATA TATTTATATATTATATATAATATATTTATATTAAATATTATTTATTTATA TATTATTTATATTTATATTAAATATTATATATTTATATATTATTTATATT TATATTAAATATTATATATTTATATATTATATATATTTATATTAAATATT ATATATTTATATATTATATATATTTATATTAAATATTATATATTTATATA TTATATATATTTATATTAAATATTATATATTTATATATTATATATAATAT ATTTATATTGAATATTATATATTTATATATTATATATAATATATTTATAT TGAATATTATATATTTATATATTATATATAATATATTTATATTGAATATT ATATATTTATATATTATATAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03471.hp1 HG02809.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0017 a0001c0001t0009 a0001c0001t0017	a0001c0001t0009g0136 a0001c0001t0017g0097 a0001c0001t0009g0136 a0001c0001t0017g0097	2	170	0.0118	671	c.166 others(690): Show c.1666-6067_1666-6066insATATATGTGATATATTTATATATAAA TATATGTGATATATTTATATATAAATATTTATATTTTATATATTTATATA TTTTATATATTTATATATAAATATTTATATTTTATATATTTATATATTTT ATATATTTATATATAAATATTTATATTTTATATATTTATATATTTTATGA TTTTATAAAATATATAATTTATATAATTTATAAATTATATAATTTATATA TTATATATAATATGTTTATATTAAATATTATATATTATATATTATATATT ATATATTTATATTAAATATTATATATTTATATATTATATATAATATATTT ATATTAAATATTATTTATTTATATATTATTTATATTTATATTAAATATTA TATATTTATATATTATTTATATTTATATTAAATATTATATATTTATATAT TATATATATTTATATTAAATATTATATATTTATATATTATATATATTTAT ATTAAATATTATATATTTATATATTATATATATTTATATTAAATATTATA TATTTATATATTATATATAATATATTTATATTGAATATTATATATTTATA TATTATATATAATATATTTATATTGAATATTATATATTTATATATTATAT ATAATATATTTATATTGAATATTATATATTTATATATTATATAAA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16			chr3	TogoVar
MYRIP_chr3_39804609_40265321	40203833	A A	ATAAATAT others(664): Show ATAAATATATATTATATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTAATATATAAATATTTATATTTTATATATTTATAT ATTTTATGATTTTATAAAATATATAATTTATATAATAATTTTATAAATTA TATAATTTATATATTATATATAATATATTTATATTAAATATATATTTATA TATTATATATAATATATTTATATTAAATATATATATTATATATAATATAT TTATATTAAATATATATATTATATATAATATATTTATATTAAATATATAT ATTATATATAATATATTTATATTAAATATATATTATATATAATATATTTA TATTAAATATTATATATTTATATATTATATATTTATATTAAATATTATAT ATTTATGTTATATAATATATTTATATTAAATATTATATATTTATATATTA TATATAATATATTTATATTAAATGTTATATATTTATATATTATATATAAT ATATTTATATTAAATGTTATATATTTATATATTATATATAATATATTTAT ATTAAATATTATATATTTATATATTATATATAATATATTTATATTAAATA TTATATATTTATATATTATATATATTTATATTGAATATTATATATTTATA TATTATATAAATATTATATATT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03041.hp2 HG03209.hp2 others(2): Show HG02572.hp1 HG03041.hp2 HG03209.hp2 NA18522.hp2 NA19240.hp1	a0002 a0007 a0002 a0007	a0002c0010 a0002c0017 a0007c0018 a0002c0010 a0002c0017 a0007c0018	a0002c0010t0004 a0002c0010t0014 a0002c0017t0007 others(1): Show a0002c0010t0004 a0002c0010t0014 a0002c0017t0007 a0007c0018t0001	a0002c0010t0004g0039 a0002c0010t0004g0045 a0002c0010t0014g0035 others(2): Show a0002c0010t0004g0039 a0002c0010t0004g0045 a0002c0010t0014g0035 a0002c0017t0007g0094 a0007c0018t0001g0060	5	170	0.0294	671	c.166 others(690): Show c.1666-6019_1666-6018insAATATATATTATATATTTATATATAA ATATTTATATTTTATATATTTATATATTTTATATATTAATATATAAATAT TTATATTTTATATATTTATATATTTTATGATTTTATAAAATATATAATTT ATATAATAATTTTATAAATTATATAATTTATATATTATATATAATATATT TATATTAAATATATATTTATATATTATATATAATATATTTATATTAAATA TATATATTATATATAATATATTTATATTAAATATATATATTATATATAAT ATATTTATATTAAATATATATATTATATATAATATATTTATATTAAATAT ATATTATATATAATATATTTATATTAAATATTATATATTTATATATTATA TATTTATATTAAATATTATATATTTATGTTATATAATATATTTATATTAA ATATTATATATTTATATATTATATATAATATATTTATATTAAATGTTATA TATTTATATATTATATATAATATATTTATATTAAATGTTATATATTTATA TATTATATATAATATATTTATATTAAATATTATATATTTATATATTATAT ATAATATATTTATATTAAATATTATATATTTATATATTATATATATTTAT ATTGAATATTATATATTTATATATTATATAAATATTATATATTTA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCAPG2_chr7_158626169_158709804	158667636	T T	TCTTACCC others(664): Show TCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCCACTACTGGGTCCC TCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCT GTGGCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTT ACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCG CCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGG GTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACC CACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCC TCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTC CCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCAC TACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCTTCC TTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCT CCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACT GGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCC ACTACTGGGTCCCTCCGCCTTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	378	0.0027	671	c.148 others(690): Show c.1480-2887_1480-2886insGAAGGCGGAGGGACCCAGTAGTGGGT AAGAGGGTGGAGGGCCAGAGGGTAGGTAAGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAA GGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGG GTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACC CAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTA AGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG GAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGCCACAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGA CCCAGTAGTGGGTAAGGAAGGCGGAGGGACCCAGTAGTGGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NEU4_chr2_241804193_241822413	241807892	T T	TCCCCCCT others(664): Show TCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGT CTGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACTCTCC CTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCGCTCAGCCCAGGGATG TCTGCAGGCCACCCTCCCTCCCTCCCTCCTCAGCCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCC TCCCTCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCTCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCCCTCAGCCC AGGGATGTCTGCAGGCCACTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	319	0.0031	671	c.-13 others(682): Show c.-1386_-1385insCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGATGTCTGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGA ACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTC TGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCG CTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCCCTCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCT GCAGGCCACCCTCCCTCCCTCCTCAGCCCAGGGACCTCTGCAGGCCACCC TCCCTCCCTCCCTCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CTCCTCCCTCAGCCCAGGGATGTCTGCAGGCCACTCC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1300		chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136535929	G G	GCAGGGTG others(664): Show GCAGGGTGGGTGGGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGT GCAGGGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGG GGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGATCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGG ATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAG GATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGG ATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAG GATCCCTCCTGGGGCAATGGGTGCATGGTGGGTGGGGGGGAGCACTCAGG ATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGA TCCCTCCCAGGAGCAACGGGTA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	324	0.0031	671	c.140 others(688): Show c.140+8094_140+8095insTACCCGTTGCTCCTGGGAGGGATCCTGA GTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGAG TGCTCCCCCCCACCCACCATGCACCCATTGCCCCAGGAGGGATCCTGAGT GCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGAG TGCTCCCCCCCACCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGAGT GCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGATCCTGAG TGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGG ATCCTGAGTGATCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGATCCCCCCTCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACTCAT TGCCCCGGGAGGGATCCTGAGTGCTCCCCCCCCACCCACCCTG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535991	G G	GGAGGGGG others(664): Show GGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTG CAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGG CAATGAGTGCAGGGTGGGTGGA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02293.hp2 HG01943.hp1 HG02293.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0190 a0003c0015t0001g0297 a0003c0015t0001g0190 a0003c0015t0001g0297	2	324	0.0062	671	c.140 others(688): Show c.140+8032_140+8033insTCCACCCACCCTGCACTCATTGCCCCGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCA TTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCAC CCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCA CCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTG CACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCT GCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACC CTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
PARP10_chr8_143972158_143991460	143981916	T T	TGGTGGTG others(664): Show TGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGAC GACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGT GGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTG ATGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGA TGATGATGAGTGGGGATGATGGTGGTGATGGTGACTGTTGTGATGGTGAT GGTGGTGATGGTGATGGTGGTGGTGATGACAGTGAGTGGTGAGGGTCATG GTGATGGTGATGATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGG TGATGGTGATTGTTGTGATGGTGATGGTGGTGATGACAGTGAGTGGTGAG GGTCATGGTGATGGTGATGGTGATGATGATGAGTGGGGATGATTATGGTG ATGGTGGTGGTGATGGTGACTGTTGTAATGGTGATGGTGGTGATGGTGAT GATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGATG ACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGAGTGGGGATG GTGGTGATGGTGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGGT GGTGACGACAGTGAGTGGTGAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0232 a0002c0002t0002g0232	1	380	0.0026	671	c.255 others(690): Show c.2556+1015_2556+1016insTTCACCACTCACTGTCGTCACCACCA CCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCACCATC CCCACTCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATC ACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCA CCATCACCACCATCACCATTACAACAGTCACCATCACCACCACCATCACC ATAATCATCCCCACTCATCATCATCACCATCACCATCACCATGACCCTCA CCACTCACTGTCATCACCACCATCACCATCACAACAATCACCATCACCAC CACCATCACCATAATCATCCCCACTCATCATCATCATCACCATCACCATG ACCCTCACCACTCACTGTCATCACCACCACCATCACCATCACCACCATCA CCATCACAACAGTCACCATCACCACCATCATCCCCACTCATCATCATCAC CATCACCATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACC TTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTC ACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCA CCACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981916	T T	TGGTGGTG others(664): Show TGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGAC GACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGT GGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTG ATGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGA TGATGATGAGTGGGGATGATGGTGGTGATGGTGACTGTTGTGATGGTGAT GGTGGTGATGGTGATGGTGGTGGTGATGACAGTGAGTGGTGAGGGTCATG GTGATGGTGATGATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGG TGATGGTGATTGTTGTGATGGTGATGGTGGTGATGACAGTGAGTGGTGAG GGTCATGGTGATGGTGATGGTGATGATGATGAGTGGGGATGATTATGGTG ATGGTGGTGGTGATGGTGACTGTTGTAATGGTGATGGTGGTGATGGTGAT GATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGATG ACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGAGTGGGGATG GTGGTGATGGTGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGGT GGTGACGACAGTGAGTGGTGAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18906.hp2 HG03516.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0207 a0002c0002t0003g0208 a0002c0002t0003g0207 a0002c0002t0003g0208	2	380	0.0053	671	c.255 others(690): Show c.2556+1015_2556+1016insTTCACCACTCACTGTCGTCACCACCA CCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCACCATC CCCACTCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATC ACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCA CCATCACCACCATCACCATTACAACAGTCACCATCACCACCACCATCACC ATAATCATCCCCACTCATCATCATCACCATCACCATCACCATGACCCTCA CCACTCACTGTCATCACCACCATCACCATCACAACAATCACCATCACCAC CACCATCACCATAATCATCCCCACTCATCATCATCATCACCATCACCATG ACCCTCACCACTCACTGTCATCACCACCACCATCACCATCACCACCATCA CCATCACAACAGTCACCATCACCACCATCATCCCCACTCATCATCATCAC CATCACCATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACC TTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTC ACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCA CCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PJA2_chr5_109329722_109414974	109353921	G G	GTCTATGA others(664): Show GTCTATGATATCTAGAGATATCTATAGATTAGATGTCTATGATATCTAGA GATATCTATAGATTAGATGTCTATGATATCTAGAGATATCTATAGATTAG ATATCTATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAG ATATCTATAGATTAGATATCTATATCAAGAGATGTCTATAGATTAGATAT CTATATCTAGAGATGTCTATAGATTAGATATCTATGATATCTAGAGATGT CTATAGAGTAGATATCTATGATGTCTAGAGATTTCTATAGATTAGATATC TATGATGTCTAGAGATATCTATAGATTAGATATCTATGATGTCTAGAGAT ATCTATAGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGATA TCTATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAG ATATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGA TATCTATGCTATCTAGAGATATCTATAGATTAGATATCTATGCTATCTAG AGATATCTATAGATTAGATATCTGTGATATCTAGAGATATCTATAGATTG GATATCTATGATATCTAGAGATATCTATAGATTGGATATCTATGATATCT AGAGATATCTATAGATTAGATA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0085 a0003c0003t0002g0085	1	346	0.0029	671	c.176 others(690): Show c.1764+1993_1764+1994insTATCTAATCTATAGATATCTCTAGAT ATCATAGATATCCAATCTATAGATATCTCTAGATATCATAGATATCCAAT CTATAGATATCTCTAGATATCACAGATATCTAATCTATAGATATCTCTAG ATAGCATAGATATCTAATCTATAGATATCTCTAGATAGCATAGATATCTA ATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCT AGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATC TAATCTATAGATATCTCTAGACATCATAGATATCTAATCTATAGATATCT CTAGACATCATAGATATCTAATCTATAGATATCTCTAGACATCATAGATA TCTAATCTATAGAAATCTCTAGACATCATAGATATCTACTCTATAGACAT CTCTAGATATCATAGATATCTAATCTATAGACATCTCTAGATATAGATAT CTAATCTATAGACATCTCTTGATATAGATATCTAATCTATAGATATCTCT AGATATCATAGATATCTAATCTATAGATATCTCTAGATATAGATATCTAA TCTATAGATATCTCTAGATATCATAGACATCTAATCTATAGATATCTCTA GATATCATAGACATCTAATCTATAGATATCTCTAGATATCATAGA	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(664): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCCCCTCCCTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCTC CCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCC TTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTC CCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0104 a0001c0014t0001g0104	1	250	0.0040	671	c.309 others(690): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCCCCTCCCTGCCTTCCTCCCTTCCTG CCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCC TCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCC TCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTC CCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(664): Show GGAGGGGAAGGCGTGGGGAGGAGGGGGGCCACATGGGAGGAGCGGGCCGC GAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGGCCACGTGGGGAGGAG GGGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTTGG GGAGGAGGGGCCGCGAGGGGAGGAGGTGAGCCGCGTGGGGAGGAGGGGGC CGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGGAAGGCGTGGGGAG GAGGGGGGCGCGGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGC GTGGGGAGGAGGGTGCCGCGTGGGGAGGAGGGGGCGTGTGGGGAGGAGGC GCCGCGTGGGGAGGAGGGGGCCGTGAGGAGAGGAGGGGGCCCCGTGGGGA GGAGGGGAAGGCGTGGGGAGGAGGGGGGGCGCGTGGGGAGGAGGGGGCCG CGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGG GGGCCGCGTGGGCGAGGAGGGGAGGGGGGCCGCGTGGGGGAGGAGGGGGC CGCGAGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGGCCGCGTGGGG AGGAGGGGGCCGCGAGGGGAGGAGGGGGCTGTGTGGGGAGGAGGGGGCCC GCGAGGGGAGGAGGGGGGCCGC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	67	0.0149	671	c.159 others(688): Show c.1590+407_1590+408insGCGGCCCCCCTCCTCCCCTCGCGGGCCC CCTCCTCCCCACACAGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCAC GCGGCCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCTCGCGGCCCCC TCCTCCCCCACGCGGCCCCCCTCCCCTCCTCGCCCACGCGGCCCCCTCCT CCCCACACGGCGCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCC CCTCCTCCCCACGCGCCCCCCCTCCTCCCCACGCCTTCCCCTCCTCCCCA CGGGGCCCCCTCCTCTCCTCACGGCCCCCTCCTCCCCACGCGGCGCCTCC TCCCCACACGCCCCCTCCTCCCCACGCGGCACCCTCCTCCCCACGCGGCC CCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACCGCGCCCCCCTCCTCCCC ACGCCTTCCCCCTCCTCCCCACGGGGCCCCCTCCTCTCCTCACGGCCCCC TCCTCCCCACGCGGCTCACCTCCTCCCCTCGCGGCCCCTCCTCCCCAAGC CTTCCCCTCCTCCCCACGGGGCCCCCTCCTCTCCTCACAGCCCCCTCCTC CCCACGTGGCCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCC CGCTCCTCCCATGTGGCCCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RIMBP3B_chr22_21378751_21394478	21378881	A A	AAAAGAAA others(664): Show AAAAGAAAAAAGAAAAGAAAAATTAGCCGGGCATGGTGGTGCTAGCCTGT AGTCACAGCTACTCGGGAGGCTGAAGTGAGAGGATTGCTTAAGTCCAGGA GGCGAACGTTGCAGTATGCCGAGATCACGCCACTGCACTCCAGCCTGGAT GACAGAGCAAGACCCTGTCTCCAAAAAATAAATAATAAAACAATTTTAAA ATTTATTTTATTTTACTTTTTTTTTAGAGATGGAGTCTCTTTGTAGCCCA GGCTGGAGTGCAGTGGCATGATCATTGCTCACTGCAGCTTTGAATTCTTG GGCTCAAACTATTCTCCCACTTCAGCCTCCTAAGTAGCTGGGGCTACAGG CACACGCCACTATGCCTGGCCTTTTTTTGTTTGTTTTAGAAACAGGGTGT CACTATGTCTCCCAGGCAGGAGTGCGGTGACTCACTCATGGCTCATTTCA GTCTTGACGTCCCAGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAGTC TCTAGGAGTACAGGCATGCACCACCATGCCCAGTTAATTTTTGTGTTTTT TGTAGAGGTGGGTGTCATGTTGCCCAGGCTGGTCTCAAACTTCAGAGCTC AAGTACTCCACCCATCCCCGCCTCCCAAAGGGCTGGGTATACAGGCTTAA GACACCATTCTGGGCCACAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0072 a0072	a0072c0017 a0072c0017	a0072c0017t0002 a0072c0017t0002	a0072c0017t0002g0000 a0072c0017t0002g0000	1	118	0.0085	671	c.-49 others(682): Show c.-4978_-4977insAAAGAAAAAAGAAAAGAAAAATTAGCCGGGCATG GTGGTGCTAGCCTGTAGTCACAGCTACTCGGGAGGCTGAAGTGAGAGGAT TGCTTAAGTCCAGGAGGCGAACGTTGCAGTATGCCGAGATCACGCCACTG CACTCCAGCCTGGATGACAGAGCAAGACCCTGTCTCCAAAAAATAAATAA TAAAACAATTTTAAAATTTATTTTATTTTACTTTTTTTTTAGAGATGGAG TCTCTTTGTAGCCCAGGCTGGAGTGCAGTGGCATGATCATTGCTCACTGC AGCTTTGAATTCTTGGGCTCAAACTATTCTCCCACTTCAGCCTCCTAAGT AGCTGGGGCTACAGGCACACGCCACTATGCCTGGCCTTTTTTTGTTTGTT TTAGAAACAGGGTGTCACTATGTCTCCCAGGCAGGAGTGCGGTGACTCAC TCATGGCTCATTTCAGTCTTGACGTCCCAGGCTCAAGCAATCTTCCCACC TCAGCCTCCCAAGTCTCTAGGAGTACAGGCATGCACCACCATGCCCAGTT AATTTTTGTGTTTTTTGTAGAGGTGGGTGTCATGTTGCCCAGGCTGGTCT CAAACTTCAGAGCTCAAGTACTCCACCCATCCCCGCCTCCCAAAGGGCTG GGTATACAGGCTTAAGACACCATTCTGGGCCACAATT	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		4869		chr22	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(664): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCCCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTTCCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCGATCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCGTC CCATCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCTCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCTCCCCTCCCCTCCCCCCTC CCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCC CCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0026 a0001c0001t0007g0026	1	150	0.0067	671	c.77- others(688): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCCCCCCCCT CCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTTCCCCCTCCCCCTCCCCACCCCT TCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCC ATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCGATCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCGTCCCATCCCCATCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(664): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCCCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTTCCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCGATCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCGTC CCATCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCTCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCTCCCCTCCCCTCCCCCCTC CCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCC CCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	158	0.0063	671	c.22+ others(688): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCCCCCCCCT CCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTTCCCCCTCCCCCTCCCCACCCCT TCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCC ATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCGATCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCGTCCCATCCCCATCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(664): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTC CCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCC CATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTC CCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCC CCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0114 a0001c0004t0015g0114	1	158	0.0063	671	c.22+ others(688): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCC CTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(664): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCTACCTCCTCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCT CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCCCCCCTCCCCACCCTTCC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTT CCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCC CATCCCCTCCCCTCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCT CCCCTCCCCCCTCCCCACCCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTC CCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCC CCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0151 a0001c0001t0060g0151	1	158	0.0063	671	c.22+ others(688): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCC CCCCTCCCCACCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCTCCCCTCCCCATCCCC TCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(664): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAAATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAA CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	302	0.0033	671	c.12+ others(686): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAAATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT ACACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar

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Search Results (Total: 10000 hits)