Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RECQL4_chr8_144506288_144522833	144513834	A A	GAGGGGTC others(593): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGG CCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG T	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	412	0.0024	600	c.205 others(612): Show c.2058+94delTinsACTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RNF223_chr1_1065967_1079306	1076341	G G	GGGGGGAG others(593): Show GGGGGGAGGCTGAGGCTACGGGGACTCCGTAGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGT GGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGTCTACGGGGACTCCGT GCGGGGAGGCTGAGTCTATGGGGACTCCGTGAGGGGTGGCTGAGTCTATG GGCACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGC TGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGT GCCGGGAGGCTGAGTCTATGGGGACTCCATGGGGGGAGGCTGAGGCTATG GGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGC TGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGT C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	600	c.-23 others(611): Show c.-2336_-2335insGACGGAGTCCCCATAGCCTCAGCCTCCCCCCACG GAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC TCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCATGGAGTCCCCAT AGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCCCGGCACG GAGTCCCCATAGCCTCAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCC TCCCCGCACGGAGTGCCCATAGACTCAGCCACCCCTCACGGAGTCCCCAT AGACTCAGCCTCCCCGCACGGAGTCCCCGTAGACTCAGCCTCCCGGCACG GAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCC TCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGT AGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACG GAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCC TCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCTACGGAGTCCCCGT AGCCTCAGCCTCCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2036		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076341	G G	GGGGGGAG others(593): Show GGGGGGAGGCTGAGGCTACGGGGACTCCGTAGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGT GGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGTCTACGGGGACTCCGT GCGGGGAGGCTGAGTCTATGGGGACTCCGTGAGGGGTGGCTGAGTCTATG GGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGC TGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGT GCCGGGAGGCTGAGTCTATGGGGACTCCATGGGGGGAGGCTGAGGCTATG GGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGC TGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02056.hp2 HG04204.hp2 HG00609.hp2 HG02056.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0001 a0001c0001t0022g0051 a0001c0001t0001g0001 a0001c0001t0022g0051	3	324	0.0093	600	c.-23 others(611): Show c.-2336_-2335insGACGGAGTCCCCATAGCCTCAGCCTCCCCCCACG GAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC TCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCATGGAGTCCCCAT AGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCCCGGCACG GAGTCCCCATAGCCTCAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCC TCCCCGCACGGAGTCCCCATAGACTCAGCCACCCCTCACGGAGTCCCCAT AGACTCAGCCTCCCCGCACGGAGTCCCCGTAGACTCAGCCTCCCGGCACG GAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCC TCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGT AGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACG GAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCC TCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCTACGGAGTCCCCGT AGCCTCAGCCTCCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2036		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076341	G G	GGGGGGAG others(593): Show GGGGGGAGGCTGAGGCTACGGGGACTCCGTAGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGT GGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGTCTACGGGGACTCCGTGCCGGGAGGCTGAGTCTACGGGGACTCCGT GCGGGGAGGCTGAGTCTACGGGGACTCCGTGAGGGGTGGCTGAGTCTATG GGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGC TGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGT GCCGGGAGGCTGAGTCTATGGGGACTCCATGGGGGGAGGCTGAGGCTATG GGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGC TGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	600	c.-23 others(611): Show c.-2336_-2335insGACGGAGTCCCCATAGCCTCAGCCTCCCCCCACG GAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC TCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCATGGAGTCCCCAT AGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCCCGGCACG GAGTCCCCATAGCCTCAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCC TCCCCGCACGGAGTCCCCATAGACTCAGCCACCCCTCACGGAGTCCCCGT AGACTCAGCCTCCCCGCACGGAGTCCCCGTAGACTCAGCCTCCCGGCACG GAGTCCCCGTAGACTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCC TCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGT AGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACG GAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCC TCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCTACGGAGTCCCCGT AGCCTCAGCCTCCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2036		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076551	G G	GGGGAGGC others(593): Show GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTCG GGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGTCTACGGG GACTCCGTGCGGGGAGGCTGAGTCTACGGGGACTCCGTGAGGGGTGGCTG AGTCTACGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGC GGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGCCGGGAGGCTGAGTCTACGGGGACTCCGTGCCGGGAGGCTG AGTCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGC C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	324	0.0031	600	c.-25 others(611): Show c.-2546_-2545insGGCACGGAGTCCCCGTAGCCTCAGCCTCCCGGCA CGGAGTCCCCGTAGACTCAGCCTCCCGGCACGGAGTCCCCGTAGACTCAG CCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCC ATAGCCTCAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCA CGGAGTCCCCGTAGACTCAGCCACCCCTCACGGAGTCCCCGTAGACTCAG CCTCCCCGCACGGAGTCCCCGTAGACTCAGCCTCCCGGCACGGAGTCCCC GTAGCCTCAGCCTCCCCCGACGGAGTCCCCGTAGCCTCAGCCTCCCCCCA CGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAG CCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCC GTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCA CGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAG CCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCC GTAGCCTCAGCCTCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2246		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076597	C C	CGGGGACT others(593): Show CGGGGACTCCGTGCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGAG GCTGAGTCTATGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCC GTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTA TGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAG GCTGAGTCTATGGGGACTCCATGGGGGGAGGCTGAGGCTATGGGGACTCC GTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTA TGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGGAG GCTGAGGCTATGGGGACTCCGTCGGGGGAGGCTGAGGCTATGGGGACTCC GTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTA TGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTG GCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCC GTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG02148.hp1 HG01361.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	324	0.0062	600	c.-25 others(611): Show c.-2592_-2591insATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAG CCTCAGCCTCCCCGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGA GTCCCCATAGCCTCAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCCTC CCCGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAG CCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCGACGGA GTCCCCATAGCCTCAGCCTCCCCCGACGGAGTCCCCATAGCCTCAGCCTC CCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAG CCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCATGGA GTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTC CCGGCACGGAGTCCCCATAGCCTCAGCCACCCCGCACGGAGTCCCCATAG CCTCAGCCTCCCCGCACGGAGTCCCCATAGACTCAGCCACCCCTCACGGA GTCCCCATAGACTCAGCCTCCCCGCACGGAGTCCCCGTAGACTCAGCCTC CCGGCACGGAGTCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2292		chr1	TogoVar
RPH3AL_chr17_207389_357807	235985	C C	CTAACAAG others(593): Show CTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTCTGCA GTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTTGGCGGAGGCTCCACA CTAACAAGACGGATCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA CTAACAAGATGGATCCCGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTACA CTAACAAGACAGGTCCCGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTGCA GTGACAAGAGGGATCCAGGGTTCAAATCTGGGGTCGGCCGAGGCTCTGCA GTGACAAGAGGGATCCAGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTACA CTAACAAGACGGATCCAGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA GTAACAAGACGGGTCCAGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA GTAACAAGACGGGTCCAGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA GTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTCGGCCAAGGCTCCACA CTAACGAGACGGGTCCATGGGTCAAAGCTGGGGTCGGCCAAGGCTCTGCA G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0088 a0001c0003t0028g0088	1	133	0.0075	600	c.613 others(619): Show c.613+11125_613+11126insCTGCAGAGCCTTGGCCGACCCCAGCT TTGACCCATGGACCCGTCTCGTTAGTGTGGAGCCTTGGCCGACCCCAGCT TTGAACCCGGGACCCGTCTTGTTACTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCTGGACCCGTCTTGTTACTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCTGGACCCGTCTTGTTACTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCTGGATCCGTCTTGTTAGTGTAGAGCCTCGGCCGACCCCAGCT TTGAACCCTGGATCCCTCTTGTCACTGCAGAGCCTCGGCCGACCCCAGAT TTGAACCCTGGATCCCTCTTGTCACTGCAGAGCCTCGGCCGACCCCAGCT TTGAACCCGGGACCTGTCTTGTTAGTGTAGAGCCTCGGCCGACCCCAGCT TTGAACCCGGGATCCATCTTGTTAGTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCGGGATCCGTCTTGTTAGTGTGGAGCCTCCGCCAACCCCAGCT TTGAACCCGGGACCCGTCTTGTTACTGCAGAGCCTCCGCCGACCCCAGCT TTGAACCCGGGACCCGTCTTGTTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(593): Show ATGTATACATATAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATATACATGATATATACATACAT ATATATCATGTGTATATATATACATAATATACACGTATATATACATACAT ATATACATGTATATATACACATATATACATACATATATATACATGTATAT ATACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGT ATATATATATATATATATATAATTTTACAACTAACATTAGCCATTGAATA G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0167 a0001c0002t0007g0167	1	170	0.0059	600	c.59- others(617): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATACACACACACACACACACACACATATA CATACACATATATATGTGTGTATATATACATGTATATATATGTATGTATA TATGTGTATATATACATGTATATATGTATGTATATATACGTGTATATTAT GTATATATATACACATGATATATATGTATGTATATATCATGTATATATAT ATACATATATGTGTATATATACACGATATATATGTGTATATATCATGTAT ATATATACATGTATACAATATATTATATATACATATATATTATATACATG TATATATACCTGTATACAATATATTATATATACGTGTATATAATATATAT ACACGTATATATATTGTATACACGTATATATAATATATACTTTATATATA ATATATACATGTATATATATACTATATATTATATATTAATATATACATGT ATAATATATACATGTATATATTATATATACATATATATGTATATATAATA TATACATATATGTACATATAATATACATGTCTATATGTATATATATTATA CATACATGTCTATATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(593): Show ACATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCAC ACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCC ACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCC ACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTAT CCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCCAC CCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCC ATCCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCCACCCAC C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0058 a0003c0003t0001g0058	1	378	0.0027	600	c.937 others(617): Show c.937-1228_937-1227insCCATCCACTCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCACACACAC ACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCCACCCAT CCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCCATCCACCC ATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCAT CCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCC ATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCC ACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAC CCACCCACCCACCCATCCATCCATCCATCCACCCACCCACCCACCCATCC ATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(593): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC GTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCAAC CCATCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTC ATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCACCCACACAC CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCC ACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCACCCACCCAC C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp1 HG02698.hp2 others(1): Show HG00099.hp2 HG01243.hp1 HG02698.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0295 a0001c0002t0002g0304 a0001c0002t0002g0305 others(1): Show a0001c0002t0002g0295 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0336	4	378	0.0106	600	c.937 others(617): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCAACCCATCC ACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATTCAT CCATCCATCCATCCATCTACCCATCCACCCACCCACCCACACACCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCAC CCACCCACCCATCCATCCATCCACCCACCCACCCACCCACCCACCCATCC ATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(593): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC GTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCAAC CCATCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATTC ATCCATCCATCCATCCATCTACCCATCCACCCACCCACCCACACACCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCC ACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCACCCACCCAC C	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18972.hp1 NA18981.hp2 others(3): Show HG04199.hp2 NA18972.hp1 NA18981.hp2 NA19002.hp1 NA19010.hp1 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0024 a0001c0002t0002g0287 a0001c0002t0002g0302 others(2): Show a0001c0002t0002g0024 a0001c0002t0002g0287 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0316	6	378	0.0159	600	c.937 others(617): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCAACCCATCC ACCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATTCATCCAT CCATCCATCCATCTACCCATCCACCCACCCACCCACACACCTATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCAC CCACCCACCCATCCATCCATCCACCCACCCACCCACCCACCCACCCATCC ATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(593): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCAC CCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCC ACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCC ATCCACCCATCCACCCATCCACCCACCCACACACCCATCCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCAC CCATCAACCCATCCACCCACCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCCACCCAC CCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCAC C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0045 a0001c0004t0001g0045	1	378	0.0027	600	c.937 others(617): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCC ACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCACCCAT CCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCCATCCACCC ATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCACCCACACACCCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCA ACCCATCCACCCACCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCACCC ACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAC CCACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCACCCATCC ATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(593): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCAC CCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCC ATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCC GTCCATCCATCCACCCATCCACCCATCCACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCAT CCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCAT CCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCAC C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0147 a0001c0004t0001g0147	1	378	0.0027	600	c.937 others(617): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCC ACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCAC CCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCATCC ACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCCACCC ACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCAC CCACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCACCCATCC ATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(593): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATATTCCATATATATATATATTCCA TATATATATATATATTCCATATATATATATTCCATATATATATATATTCC ATATATATATATTCCATATATATATATATTCCATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATTCCATAT ATATATATATTCCATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATTCCATATATATATATTCCATATATAT A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	324	0.0031	600	c.115 others(617): Show c.115-2552_115-2551insTATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATGGAATATATATATATATGGAATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATGGAATATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATGGAATATATATATATATATGGAATATATATATATATGGAATATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATGGAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(593): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCACCTCCTCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC ACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTTCCCCACCCCCTCCCCATC CCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCTCCCCCCTCCCCCC TCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCT T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0045 a0002c0002t0045	a0002c0002t0045g0042 a0002c0002t0045g0042	1	150	0.0067	600	c.77- others(617): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCC TTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTTCCCCACCCCCTC CCCATCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCTCCCCCCT CCCCCCTCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT TTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77485004	G G	GGGTGATG others(593): Show GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTG GTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGT GGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGA TTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGG GTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGT GGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTG GTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGT GATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGA TTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGG T	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0045 a0001c0001t0033g0045	1	150	0.0067	600	c.914 others(617): Show c.914-2410_914-2409insATTGTGATGGTGGTGAAGGGGGTGATGG TGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAG GGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGAT GGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGG TGATTGTGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTG ATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG ATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGA TTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATG GTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGT GGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGT GGTGGTAGTGGTGGTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(593): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCACCTCCTCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC ACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTTCCCCACCCCCTCCCCATC CCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCTCCCCCCTCCCCCC TCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCT T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0136 a0002c0002t0009g0136	1	158	0.0063	600	c.22+ others(617): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCC TTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTTCCCCACCCCCTC CCCATCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCTCCCCCCT CCCCCCTCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT TTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(593): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG C	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18960.hp1 HG00558.hp1 NA18960.hp1	a0001 a0001	a0001c0188 a0001c0293 a0001c0188 a0001c0293	a0001c0188t0004 a0001c0293t0001 a0001c0188t0004 a0001c0293t0001	a0001c0188t0004g0114 a0001c0293t0001g0159 a0001c0188t0004g0114 a0001c0293t0001g0159	2	380	0.0053	600	c.-32 others(617): Show c.-32-1637_-32-1636insGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SLC24A3_chr20_19207642_19727926	19663441	T T	TCCACTTC others(593): Show TCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTC CTCCTCCACCTCCTCCACCTCCACCTCCTCCTCCTCCACCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC ACCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACC TCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTC CTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCC A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0019 a0006c0014t0001g0019	1	160	0.0063	600	c.688 others(617): Show c.688-2422_688-2421insCACTTCCTCCTCCACCTCCTCCTCTACC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCT CCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCC TCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCACCTCCACCTCCTC CTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCACCTCCACCTCCAC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC66A2_chr18_79897420_79956653	79919512	A A	AGGAACCA others(593): Show AGGAACCAAGGGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGGGA GAGGTCAAGGTCAGTGGGGAGAGATGGAACCGACTGAGAGGTCAAGGTCA GTGGGGAGAGACGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACG GAACTGAGGGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGACTGAGA GGTCAAGGTCAGTGGGGAGAGACGGAACCGAGTGAGAGGTCAGGGTCAGT GGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGAGGAGGAGAGACG GGAACTGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGCTCAGTGGGGAGAGACGGAACCGAGTGAGAGGTCAAGGTCA GTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGA CGGAACCGAGGGAGAGGTCAGGGTCAGTGGGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGGGGAGAGACGGAACCGAGGGAGAGGTCAGGGTC AGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGA C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	352	0.0028	600	c.392 others(615): Show c.392-113_392-112insGTCTCTCCCCACTGACCTTGACCTCTCCCT CGGTTCCTGTCTCTCCCCACTGACCCTGACCTCTCCCTCGGTTCCGTCTC TCCCCACTGACCTTGACCTCTCCCTCGGTTCCTGTCTCTCCCCACTGACC CTGACCTCTCCCTCGGTTCCGTCTCTCCCCACTGACCTTGACCTCTCCCT CGGTTCCTGTCTCTCCTCCACTGACCTTGACCTCTCACTCGGTTCCGTCT CTCCCCACTGAGCTTGACCTCTCCCTCGGTTCCTGTCTCTCCTCACTGAC CCTGACCTCTCCCTCAGTTCCCGTCTCTCCTCCTCTGACCTTGACCTCTC CCTCGGTTCCTGTCTCTCCCCACTGACCCTGACCTCTCACTCGGTTCCGT CTCTCCCCACTGACCTTGACCTCTCAGTCGGTTCCATCTCTCCCCACTGA GCTTGACCTCTCCCTCAGTTCCGTCTCTCCCCACTGACCTTGACCTCTCA CTCGGTTCCGTCTCTCCCCACTGACCTTGACCTCTCAGTCGGTTCCATCT CTCCCCACTGACCTTGACCTCTCCCTCGGTTCCATCTCTCCCCACTGAGC TTGACCTCTCCCTTGGTTCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GCGGGTGA others(593): Show GCGGGTGAAGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGT GAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGTGAGGGGT GAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGG AGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCG GGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAG GGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGA GGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAG CGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGG TGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGG GTGAGGGGCGCGCGGGTGAAGTGTGAGGGGCGCGCGGGTGAAGAGTGAGG GGAGCGTGGGTGAGGGGTGAGGGGCGCGCCGGTGAAGGGTGAGGGGAGCG TGGGTGAGGGGTGAGGCGTGAGTGATGCGCGAGTGAAGGGTGAGGGGCGC C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0013 a0001c0001t0024g0013	1	352	0.0028	600	c.-12 others(611): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCA CCCCTCACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACACTTC ACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGC GCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCC CTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACC CCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCAC CCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGC TCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCT CACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCC TCACCCGCGCTCCCCTCACCCCTCACCGCGCTCCCCTCACCCCTCACCCG CGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCGCC CCTCACCCTTCACCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1064		chr18	TogoVar
SMYD3_chr1_245744347_246512279	245976861	T T	TAGGGAAA others(593): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAA GCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGC CATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCA TCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	150	0.0067	600	c.532 others(619): Show c.532-46925_532-46924insGGGCCGGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGC CGGAGACGATGGCTTTCCCTAGGCCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGA GACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGA CGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCTAGAGACG ATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGGGCTAGAGACGAT GGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGG CTTTCCCTGGGCTAGAGACGATGGCTTTCCCTAGGCCGGAGACGATGGCT TTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTT CCCTAGGCTAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCC CTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCT GGGCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245977049	G G	GGCCCAGG others(593): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCA TCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCT CTAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCT A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0084 a0001c0002t0002g0084	1	150	0.0067	600	c.532 others(619): Show c.532-47113_532-47112insTAGAGACGATGGCTTTCCCTAGGCCG GAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTAGGCCGGA GACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCTAGAGA CGATGGCTTTCCCTAGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGACG ATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTAGGCTAGAGACGAT GGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTGGGCCGGAGACGATGG CTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCT TTCCCTGGGCCGGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTT CCCTAGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCC CTGGGCTAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCT AGGCTAGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCTGGGCTGGAGACGATGGCTTTCCCTGGGC CGGAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SORCS2_chr4_7187538_7747827	7724742	G G	GTGGTGAT others(593): Show GTGGTGATGGTGATGGTGGTGGTGATGGTGATGATAGTGGTAGTGGTGGT GGTGATGGTGGTGATAGTGGTGGTGGTGATGGTGATGATGGTGATAGCAG TACTGGTGGTGGTGGTGATGGTACTAATGATGATTATAGTGGAGGTGGTA GTGATGATGGTGACGTTGGTGTTGGTGATGGTGATGATGGTGGTGGTGGT GGTGATAATGGTGACAATGGTGGTGGTGATGGTGGTGGTGATGGTGATGG TGGTGATGATGGTGGTGGTGGTGACAATGGTGGTGGTGATGGTGGTGATA GGGTGGTGGTGATGGTGATAGTAGTGGTGGGAATGGATGGTGGTGGTGAT GGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGATAGTGCTGGTGAGGA TGGTGATGGTGGTGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGATG GTGGTAGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGTTGGTGAT GATGGTGGTGATAGTGCTGGTGAGGATGGTGATGGTGGTGATGGTGGAGG TGATGGTGGTAGTTATGGTGATGATGGTGGTAGTGGTGATGGTGGTGGTG A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0036 a0003c0012t0036	a0003c0012t0036g0010 a0003c0012t0036g0010	1	168	0.0060	600	c.261 others(617): Show c.2612-401_2612-400insATGGTGGTGGTGATGGTGATGATAGTGG TAGTGGTGGTGGTGATGGTGGTGATAGTGGTGGTGGTGATGGTGATGATG GTGATAGCAGTACTGGTGGTGGTGGTGATGGTACTAATGATGATTATAGT GGAGGTGGTAGTGATGATGGTGACGTTGGTGTTGGTGATGGTGATGATGG TGGTGGTGGTGGTGATAATGGTGACAATGGTGGTGGTGATGGTGGTGGTG ATGGTGATGGTGGTGATGATGGTGGTGGTGGTGACAATGGTGGTGGTGAT GGTGGTGATAGGGTGGTGGTGATGGTGATAGTAGTGGTGGGAATGGATGG TGGTGGTGATGGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGATAGTG CTGGTGAGGATGGTGATGGTGGTGATGGTGGAGGTGATGGTGGTAGTTAT GGTGATGATGGTGGTAGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGG TGTTGGTGATGATGGTGGTGATAGTGCTGGTGAGGATGGTGATGGTGGTG ATGGTGGAGGTGATGGTGGTAGTTATGGTGATGATGGTGGTAGTGGTGAT GGTGGTGGTGATGGTGATGGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724921	G G	GGATGGTG others(593): Show GGATGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGGTGATGGTGGAG GTGATGGTGGTAGTTATGGTGATGATGGTGGTAGTGGTGATGGTGGTGGT GTTGGTGATGGTGGTGATAGTGTTGGTGGGAATGGATGGTGGTAGTAGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGTTGGTGATGGTGGTGAT AGTATTGGTGGGAATGGATGGTGGTAGTAGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGATGATGGTGGTGGTGGTGACAATGGTGGTGGTGATGGT GGTGATAGGGTGGTGGTGATGGTGATAGTAGTGGTGGGAATGGATGGTGG TGGTGATGGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGATAGTGCTG GTGAGGATGGTGATGGTGGTGATGGTGGAGGTGATGGTGGTAGTTATGGT GATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGGTGGTGATAG TGTTGGTGGGAATGGATGGTGGTGGTGATGGTGATGGTGGTGGTGATGGT GGTGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGATGGTGGTAGTGG T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp1 HG02922.hp2 others(5): Show HG01891.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03579.hp1 HG03579.hp2 NA19043.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0006 a0017	a0001c0002 a0003c0046 a0004c0007 others(4): Show a0001c0002 a0003c0046 a0004c0007 a0005c0008 a0005c0045 a0006c0022 a0017c0054	a0001c0002t0001 a0003c0046t0001 a0004c0007t0001 others(4): Show a0001c0002t0001 a0003c0046t0001 a0004c0007t0001 a0005c0008t0001 a0005c0045t0001 a0006c0022t0039 a0017c0054t0022	a0001c0002t0001g0123 a0003c0046t0001g0164 a0004c0007t0001g0026 others(5): Show a0001c0002t0001g0123 a0003c0046t0001g0164 a0004c0007t0001g0026 a0004c0007t0001g0126 a0005c0008t0001g0006 a0005c0045t0001g0148 a0006c0022t0039g0153 a0017c0054t0022g0113	8	168	0.0476	600	c.261 others(617): Show c.2612-224_2612-223insGGTGATGGTGATGGTGGTGGTGATGGTG GTGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGATGGTGGTAGTGGT GATGGTGGTGGTGTTGGTGATGGTGGTGATAGTGTTGGTGGGAATGGATG GTGGTAGTAGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGTTGGT GATGGTGGTGATAGTATTGGTGGGAATGGATGGTGGTAGTAGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGATGATGGTGGTGGTGGTGACAATGGT GGTGGTGATGGTGGTGATAGGGTGGTGGTGATGGTGATAGTAGTGGTGGG AATGGATGGTGGTGGTGATGGTGATGGTGGTGGTGTTGGTGATGATGGTG GTGATAGTGCTGGTGAGGATGGTGATGGTGGTGATGGTGGAGGTGATGGT GGTAGTTATGGTGATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGA TGGTGGTGATAGTGTTGGTGGGAATGGATGGTGGTGGTGATGGTGATGGT GGTGGTGATGGTGGTGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGA TGGTGGTAGTGGTGATGGTGGT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPIRE2_chr16_89823475_89876319	89852655	G G	GATCCCAT others(593): Show GATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCATACGTCTTCTCTCTCACCCCCCGGATCCCATGA TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCTG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GCCCTCCCTCTCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG C	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18612.hp1 HG02074.hp1 NA18612.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0013 a0002c0002 a0008c0013	a0002c0002t0002 a0008c0013t0002 a0002c0002t0002 a0008c0013t0002	a0002c0002t0002g0048 a0008c0013t0002g0033 a0002c0002t0002g0048 a0008c0013t0002g0033	2	356	0.0056	600	c.646 others(617): Show c.646-1623_646-1622insATCCATCTTCCATCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCCGGATCCCATGGCCCGTCATACGTCTTCTCTCTCACCCC CCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCTGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCTTCCGCCCTCCCTCTCACCCCCCGGATCCCATGATCCGTCT TCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCC CTCTCACCCCCCGCATCCCATG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(593): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCC AGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	422	0.0024	600	c.64 others(611): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC AGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCT GGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCAC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCC CCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCC CGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(593): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCC AGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	422	0.0024	600	c.64 others(611): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC AGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCT GGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCAC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCC CCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCC CGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(593): Show GATTATAAAATATAATTATATATAATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	268	0.0037	600	c.75 others(611): Show c.7501_*7502insATTATAAAATATAATTATATATAATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
TBXAS1_chr7_139824264_140025293	139950681	C C	CCCCCTCG others(593): Show CCCCCTCGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACC CCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCC CTCGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCT CGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCG CCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC CTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCT ACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGG GACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGA T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	270	0.0037	600	c.451 others(617): Show c.451-2664_451-2663insTCCCCTCGCCCTCCATCTACGGGACCCC CTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCT CGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCTCG CCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC CTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGG GACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGA CCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGATC CCCTCGCCCTCCATCTACGGGA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(593): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCT CTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCT CTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCT CTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCT CTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCT GTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGT C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp2 HG02976.hp2 others(3): Show HG02615.hp1 HG02647.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0007 a0002c0004 a0001c0003 a0001c0007 a0002c0004	a0001c0003t0001 a0001c0007t0005 a0002c0004t0003 a0001c0003t0001 a0001c0007t0005 a0002c0004t0003	a0001c0003t0001g0238 a0001c0007t0005g0239 a0002c0004t0003g0233 others(3): Show a0001c0003t0001g0238 a0001c0007t0005g0239 a0002c0004t0003g0233 a0002c0004t0003g0234 a0002c0004t0003g0235 a0002c0004t0003g0237	6	256	0.0234	600	c.924 others(617): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA CAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGA GAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAA GAGACAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGACAGAGAGAGAGA GAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGA GAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMEM178B_chr7_141069064_141485380	141337038	C C	CCATCATC others(593): Show CCATCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCAGC ATCACCACCATCACCACCAGCATCACCACCATCACCACCAGCACCACCAG CATCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCAGCATCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCAGCATCACCAC CATCACCACCACCACCACCACCATCACCACCAGCATCACCACCATCACCA CCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACGACCACCACCAGCATCACCACCACGACCACCACCAGCATCACCAC CACGACCACCACCAGCATCACCACCACGACCACCACCAGCATCACCACCA T	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA21309.hp1 HG02922.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0023 a0001c0001t0005 a0001c0001t0023	a0001c0001t0005g0008 a0001c0001t0023g0018 a0001c0001t0005g0008 a0001c0001t0023g0018	2	80	0.0250	600	c.497 others(621): Show c.497-100568_497-100567insTCATCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCA TCACCACCACCACCACCACCAGCATCACCACCATCACCACCAGCATCACC ACCATCACCACCAGCACCACCAGCATCACCACCATCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCAGCATCACCACCACCACCACCATCACCACCACCACCACC ACCACCACCACCAGCATCACCACCATCACCACCACCACCACCACCATCAC CACCAGCATCACCACCATCACCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACGACCACCACCAGCATCACCACC ACGACCACCACCAGCATCACCACCACGACCACCACCAGCATCACCACCAC GACCACCACCAGCATCACCACCATCA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMEM255B_chr13_113754226_113821995	113817328	C C	CGGGACAC others(593): Show CGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCACG GGACACATCCCTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGACAC ATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCC CCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCC CCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCC TCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTC CCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCC CCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTC CAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0063 a0001c0002t0063	a0001c0002t0063g0101 a0001c0002t0063g0101	1	260	0.0039	600	c.54 others(611): Show c.5425_*5426insGGGACACATCCCCCCTCCCCCCACGGGACACATA CCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACC CCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCC CTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCAC GGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGG GACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACA CATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACA TCCCCCCTCCCTCCAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		334		chr13	TogoVar
TNFRSF6B_chr20_63691652_63703684	63693579	A A	ACCACCAC others(593): Show ACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCTC CACCTCCACCACCTCCACCACCACCACCACCTCCACCACCACCTCCACCT CCACCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCC ACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCAC CACCACCTCCACCTCCACCTCCACCACCTCCACCACCACCTCCACCACCA CCACCTCCACCTCCACCACCACCACCTCCACCACCACCTCCACCACCACC ACCTCCACCTCCACCCCACCACCTCCACCACACCTCCACCACCACCACCT CCACCTCCACCACCACCTCCACCTCCACACCTCCACCACACCACCACCTC CACCACCACCACCTCCACCTCCACCACCTCCACCACCTCCACCACCACCA CCTCCACCACCACCTCACCTCCTCCACCACCACCACCTCCACCTCCACCA CCTCACCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCTCCA CCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	33	0.0303	600	c.-31 others(611): Show c.-3189_-3188insCCACCACCTCCACCACCACCACCTCCACCTCCAC CACCACCTCCACCTCCACCTCCACCACCTCCACCACCACCACCACCTCCA CCACCACCTCCACCTCCACCACCACCACCTCCACCACCACCTCCACCACC ACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCTCCACCACCAC CACCTCCACCTCCACCACCACCTCCACCTCCACCTCCACCACCTCCACCA CCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCACC ACCTCCACCACCACCACCTCCACCTCCACCCCACCACCTCCACCACACCT CCACCACCACCACCTCCACCTCCACCACCACCTCCACCTCCACACCTCCA CCACACCACCACCTCCACCACCACCACCTCCACCTCCACCACCTCCACCA CCTCCACCACCACCACCTCCACCACCACCTCACCTCCTCCACCACCACCA CCTCCACCTCCACCACCTCACCACCTCCACCTCCACCACCACCTCCACCT CCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACC ACCACCACCTCCACCT	TNFRSF6B	ENSG00000243509.6	transcript	ENST00000369996.3	protein_coding		3072		chr20	TogoVar
TPO_chr2_1408463_1548673	1489933	A A	AGGAGTCA others(593): Show AGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCGCACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCGCACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGG G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0075 a0004c0005t0001g0075	1	130	0.0077	600	c.176 others(619): Show c.1768+1954_1768+1955insCAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGTGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCGCACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGG TCCCGCACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGTGGG TCCCACACAGGGGGAGTCACGACA	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1490040	G G	GCGACACA others(593): Show GCGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC GCGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC GCGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0114 a0001c0004t0001g0114	1	130	0.0077	600	c.176 others(619): Show c.1768+2148_1768+2149insGCGACACAGCAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCA CGTGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGGGGAGTCGCGACACAGCAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCA CGTGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGGGGAGTC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1490368	T T	TGGGTCCC others(593): Show TGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG TGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG AGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCACG A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0095 a0002c0002t0003g0095	1	130	0.0077	600	c.176 others(619): Show c.1768+2476_1768+2477insTGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACG	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(593): Show GTATATATACATGTATATATGTATATATACGTGTATCTACATGTGTACAC ATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGT GTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACAT GTGTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATAC ATGTGTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTAT ACATGTGTACACATGTGTATACGTATACATGTGTACACATGTGTATACGT ATACATGTGTACACATGTGTATACGTATACATGTGTACACATGTATGTAT GTGTATATATGTATACATGTATATATGTATACATACACGCGCGTGTATAT ATGTATACATACACGCGCGTGTATATATGTATACATACACGCGCGTGTAT ATATGTATACATACACGCGCGTGTATATATGTATACATACACGCGCGTGT A	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	388	0.0026	600	c.-23 others(617): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CACGCGCGTGTATGTATACATATATACACGCGCGTGTATGTATACATATA TACACGCGCGTGTATGTATACATATATACACGCGCGTGTATGTATACATA TATACATGTATACATATATACACATACATACATGTGTACACATGTATACG TATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATA CGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTA TACGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATG TATACGTATACACATGTGTACACATGTATACGTATACACATGTGTACACA TGTATACGTATACACATGTGTACACATGTATACGTATACACATGTGTACA CATGTATACGTATACACATGTGTACACATGTATACGTATACACATGTGTA CACATGTATACGTATACACATGTGTACACATGTATACGTATACACATGTG TACACATGTATACGTATACACATGTGTACACATGTAGATACACGTATATA TACATATATACATGTATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(593): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATAATATATATATATAAAAATTATATATATATATTATATATA TATAAAAATTATATATATATATTATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTATATATATATATTATATATATATAAAAATT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	272	0.0037	600	c.29 others(611): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATAATATATATATATAAAAATTATATA TATATATTATATATATATAAAAATTATATATATATATTATATATATATAA AAATTATATATATATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273456	A A	ATTATATA others(593): Show ATTATATATATATTATATATAAAAATTATATATATTATATATATAAAAAT TATATATATATTATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATTATATATATATAAAAATTATATATATATTATATATATAAAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATTATATATATATAAAAATTATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTGTATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATATATATATATATAAA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	272	0.0037	600	c.30 others(611): Show c.3021_*3022insTTATATATATATTATATATAAAAATTATATATAT TATATATATAAAAATTATATATATATTATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATTATATATATATAAAAATTATATATAT ATTATATATATAAAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATTATATATATATAAAAA TTATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTGTATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT ATATATATATATAAAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2343		chr11	TogoVar
TRIM58_chr1_247852187_247885138	247870492	A A	ACCCAGAA others(593): Show ACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCATGGCCACCCATAGAGCCTGCACCACCAC ACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCATGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCATGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAT G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0094 a0004c0004t0003g0094	1	454	0.0022	600	c.871 others(617): Show c.871+2462_871+2463insCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGT ATCAGAGTCATGGCCACCCATAGAGCCTGCACCACCACACCCAGAAGAAC GAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCATGCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCATGCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCATGCCCAGAAGAAC GAGGATTAGTATATTCATGAGC	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870492	A A	ACCCAGAA others(593): Show ACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCATGGCCACCCATAGAGCCTGCACCACCAC ACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCATGCCCAGAAGAATGAGGATTAAGTAT ATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCA CGCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACG GCCACCCATAGAGCCTGCACCACCATGCCCAGAAGAACGAGGATTAGTAT ATTCATGAGCAGTATCAGAGTCACGGCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAT G	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0155 a0004c0004t0003g0155	1	454	0.0022	600	c.871 others(617): Show c.871+2462_871+2463insCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGT ATCAGAGTCATGGCCACCCATAGAGCCTGCACCACCACACCCAGAAGAAC GAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCATGCCCAGAAGAATGAGGATTAAGTATATTCATGAGCAG TATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAA CGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGCCACCCATAGA GCCTGCACCACCATGCCCAGAAGAACGAGGATTAGTATATTCATGAGCAG TATCAGAGTCACGGCACCCATAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCATGCCCAGAAGAAC GAGGATTAGTATATTCATGAGC	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870492	A A	ACCCAGAA others(593): Show ACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCATGGCCACCCATAGAGCCTGCACCACCAC ACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCATGCCCAGAAGAATGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCATGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAT G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00621.hp2 others(32): Show HG00438.hp2 HG00597.hp1 HG00621.hp2 HG01192.hp2 HG01496.hp2 HG01952.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02148.hp1 HG02155.hp1 HG02273.hp1 HG02698.hp1 HG02738.hp1 HG03017.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18956.hp2 NA18957.hp1 NA18963.hp2 NA18975.hp1 NA18981.hp1 NA18982.hp2 NA18986.hp1 NA19001.hp2 NA19010.hp1 NA19075.hp1 NA19080.hp2 NA20300.hp2	a0003 a0004 a0007 others(1): Show a0003 a0004 a0007 a0013	a0003c0021 a0004c0004 a0007c0019 others(2): Show a0003c0021 a0004c0004 a0007c0019 a0007c0024 a0013c0028	a0003c0021t0001 a0004c0004t0003 a0004c0004t0005 others(5): Show a0003c0021t0001 a0004c0004t0003 a0004c0004t0005 a0004c0004t0068 a0004c0004t0072 a0007c0019t0069 a0007c0024t0073 a0013c0028t0003	a0003c0021t0001g0098 a0004c0004t0003g0004 a0004c0004t0003g0082 others(23): Show a0003c0021t0001g0098 a0004c0004t0003g0004 a0004c0004t0003g0082 a0004c0004t0003g0093 a0004c0004t0003g0096 a0004c0004t0003g0107 a0004c0004t0003g0109 a0004c0004t0003g0157 a0004c0004t0003g0159 a0004c0004t0003g0168 a0004c0004t0003g0188 a0004c0004t0003g0192 a0004c0004t0005g0014 a0004c0004t0005g0020 a0004c0004t0005g0080 a0004c0004t0005g0097 a0004c0004t0005g0108 a0004c0004t0005g0158 a0004c0004t0005g0186 a0004c0004t0005g0187 a0004c0004t0005g0191 a0004c0004t0068g0132 a0004c0004t0072g0004 a0007c0019t0069g0255 a0007c0024t0073g0239 a0013c0028t0003g0099	35	454	0.0771	600	c.871 others(617): Show c.871+2462_871+2463insCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGT ATCAGAGTCATGGCCACCCATAGAGCCTGCACCACCACACCCAGAAGAAC GAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCATGCCCAGAAGAATGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCATGCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCATGCCCAGAAGAAC GAGGATTAGTATATTCATGAGC	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870492	A A	ACCCAGAA others(593): Show ACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCATGGCCACCCATAGAGCCTGCACCACCAC ACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCATGCCCAGAAGAATGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCATGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCAT G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0162 a0004c0004t0005g0162	1	454	0.0022	600	c.871 others(617): Show c.871+2462_871+2463insCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGT ATCAGAGTCATGGCCACCCATAGAGCCTGCACCACCACACCCAGAAGAAC GAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCATGCCCAGAAGAATGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCATGCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGT ATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCATGCCCAGAAGAAC GAGGATTAGTATATTCATGAGC	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870492	A A	ACCCAGAA others(593): Show ACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCATGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCATGCCCAGAAGAATGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCATGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAT G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0163 a0004c0004t0005g0163	1	454	0.0022	600	c.871 others(617): Show c.871+2462_871+2463insCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGT ATCAGAGTCATGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCATGCCCAGAAGAATGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCATGCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCATGCCCAGAAGAAC GAGGATTAGTATATTCATGAGC	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870549	T T	TAGAGCCT others(593): Show TAGAGCCTGCACCACCATGCCCAGAAGAACGAGGATTAGTATATTCATGA GCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGA AGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACAGCCACCCA CAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGA GCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGA AGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCA TAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGA GCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGA AGAACGAGGATTAGTATATTCATAAGCAGTATCAGAGTCACGGCCACCCA TAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGA GCCGTATCAGAGTCAAGGCCACCCAGAGAGCCTGCACCACCACGCCCAGA AGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGCCACCCA G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0046 a0002c0015t0046	a0002c0015t0046g0305 a0002c0015t0046g0305	1	454	0.0022	600	c.871 others(617): Show c.871+2502_871+2503insTGCCCAGAAGAACGAGGATTAGTATATT CATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGC CCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACAGCC ACCCACAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATT CATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGC CCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCC ACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATT CATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGC CCAGAAGAACGAGGATTAGTATATTCATAAGCAGTATCAGAGTCACGGCC ACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATT CATGAGCCGTATCAGAGTCAAGGCCACCCAGAGAGCCTGCACCACCACGC CCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGCC ACCCAGAGAGCCTGCACCACCA	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
ULK1_chr12_131889622_131928150	131918730	G G	GGGGTGTG others(593): Show GGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTGTAG GGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTG TGGGGTGTAGTGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGT GTAGGGTATGGGGTGTCGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATAG GGTGTGTGGGGTATAGGGTGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTG TGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGTAGGGTATGGGGT GTCGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTAT AGGGTGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTGTGGGGTGTCAGGTG TGTGGGGTGTCGGGTGTGGGGTGTAGGGTGTGTGGGGTATAGGGTGTGTG GGGTGTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTGTGGGGTGT AGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGTCAGGTGTG TGGGGTGTAGGGTGTGGGGTGTAGGGTGTGTGGTGTAGGGTATGGGGTGT C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0130 a0001c0001t0023g0130	1	344	0.0029	600	c.251 others(615): Show c.2511+96_2511+97insAGGGTGTGTGGGGTGTCGGGTGTGGGGTGT CGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTGTGGGGTGTCAGGTG TGTGGGGTGTCGGGTGTGGGGTGTAGGGTATGGGGTGTCGGGTGTGTGGG GTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTATAGGGTGTGTGGGGT GTAGAGTGTGGGGTGTAGTGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGG TGTGGGGTGTAGGGTATGGGGTGTCGGGTGTGTGGGGTGTCGGGTGTGTG GGGTATAGGGTGTGTGGGGTATAGGGTGTGTGGGGTGTAGAGTGTGGGGT GTAGTGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGTAGGG TGTGTGGGGTATAGGGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGGGTG TGGGGTGTAGAGTGTGGGGTGTAGTGTGGGGTGTCAGGTGTGTGGGGTGT CGGGTGTGGGGTGTCAGGTGTGTGGGGTGTAGGGTGTGGGGTGTAGGGTG TGTGGTGTAGGGTATGGGGTGTCGGGTGTGTGGGGTGTCGGGTGTGTGGG GTATAGGGTGTGTGGGGTGT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
USHBP1_chr19_17244171_17269745	17249415	G G	GCTCCTGG others(593): Show GCTCCTGGCCTCAGGTGATCCTCCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTTAAGCCACTGCACCCGGCCTGCTTTTTATTGTTGTTGTT GTCGTCGTTGTTTTTTGAGACGGAGTCTCGCTCTGTCACCAGGCTGGAGT GCAGTGGCACAACCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGC GATTCTCCTGCCCCAGCCTCCCGAGTAGCTGGGATTACAGGCACGCACCA CCACGCCCAGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACCATG TTGGCCTCTATCTTCTGACCTCGTGATCTGCCCACCTTGGCCTCCCAAAA TGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCTGTTTTGTTTCTT TGAGACAAGGTATGTCACCCAAACTGGAGTGCCGTGGCTTGATCTCAGCT CACTGCAACGTCTGCCTCCCAGGTTCAAGCAATTATCCTGCCTCAGCCTC CTGAGTAGCTGGGACTACAGGCACACACCACCACACCCAGCTAATTTTTG TATTTTTAGTAGAGACGGGGGTTTTGCCATGTTGGCCAAGCTGGTCTCAA A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0236 a0001c0001t0015g0236	1	412	0.0024	600	c.80 others(609): Show c.809_*810insTTTGAGACCAGCTTGGCCAACATGGCAAAACCCCCG TCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTA GTCCCAGCTACTCAGGAGGCTGAGGCAGGATAATTGCTTGAACCTGGGAG GCAGACGTTGCAGTGAGCTGAGATCAAGCCACGGCACTCCAGTTTGGGTG ACATACCTTGTCTCAAAGAAACAAAACAGGGCCGGGCACGGTGGCTCACA CCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCA GAAGATAGAGGCCAACATGGTGAAACCCCATCTGTACTAAAAATACAAAA ATTAGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTACTCGGGAGGC TGGGGCAGGAGAATCGCTTGAACCAGGGAGTCGGAGGTTGCAGTGAGCCG AGGTTGTGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTCA AAAAACAACGACGACAACAACAACAATAAAAAGCAGGCCGGGTGCAGTGG CTTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGAGGATCA CCTGAGGCCAGGAG	USHBP1	ENSG00000130307.12	transcript	ENST00000252597.8	protein_coding	13/13	809		chr19	TogoVar
USHBP1_chr19_17244171_17269745	17249415	G G	GCTCCTGG others(593): Show GCTCCTGGCCTCAGGTGATCCTCCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTTAAGCCACTGCACCCGGCCTGTTTTTTATTGTTGTTGTT GTCGTCGTTGTTTTTTGAGACGGAGTCTCGCTCTGTCACCAGGCTGGAGT GCAGTGGCACAACCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGC GATTCTCCTGCCCCAGCCTCCCGAGTAGCTGGGATTACAGGCACGCACCA CCACGCCCAGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACCATG TTGGCCTCTATCTTCTGACCTCGTGATCTGCCCACCTTGGCCTCCCAAAA TGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCTGTTTTGTTTCTT TGAGACAAGGTATGTCACCCAAACTGGAGTGCCGTGGCTTGATCTCAGCT CACTGCAACGTCTGCCTCCCAGGTTCAAGCAATTATCCTGCCTCAGCCTC CTGAGTAGCTGGGACTACAGGCACACACCACCACACCCAGCTAATTTTTG TATTTTTAGTAGAGACGGGGGTTTTGCCATGTTGGCCAAGCTGGTCTCAA A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG02451.hp2 HG02572.hp2 others(4): Show HG01109.hp2 HG02451.hp2 HG02572.hp2 HG02647.hp1 HG02886.hp2 HG03486.hp2 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0009 a0003c0007 a0003c0014 a0001c0009 a0003c0007 a0003c0014	a0001c0009t0006 a0003c0007t0017 a0003c0014t0006 a0001c0009t0006 a0003c0007t0017 a0003c0014t0006	a0001c0009t0006g0024 a0001c0009t0006g0229 a0001c0009t0006g0233 others(2): Show a0001c0009t0006g0024 a0001c0009t0006g0229 a0001c0009t0006g0233 a0003c0007t0017g0239 a0003c0014t0006g0226	7	412	0.0170	600	c.80 others(609): Show c.809_*810insTTTGAGACCAGCTTGGCCAACATGGCAAAACCCCCG TCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTA GTCCCAGCTACTCAGGAGGCTGAGGCAGGATAATTGCTTGAACCTGGGAG GCAGACGTTGCAGTGAGCTGAGATCAAGCCACGGCACTCCAGTTTGGGTG ACATACCTTGTCTCAAAGAAACAAAACAGGGCCGGGCACGGTGGCTCACA CCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCA GAAGATAGAGGCCAACATGGTGAAACCCCATCTGTACTAAAAATACAAAA ATTAGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTACTCGGGAGGC TGGGGCAGGAGAATCGCTTGAACCAGGGAGTCGGAGGTTGCAGTGAGCCG AGGTTGTGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTCA AAAAACAACGACGACAACAACAACAATAAAAAACAGGCCGGGTGCAGTGG CTTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGAGGATCA CCTGAGGCCAGGAG	USHBP1	ENSG00000130307.12	transcript	ENST00000252597.8	protein_coding	13/13	809		chr19	TogoVar
VAT1_chr17_43009607_43027385	43017098	G G	GAGGTTGC others(593): Show GAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTTCAGCCTGGGCAAAA AGAGCGAAACTCCGTCTCAAAAAAAAAAAACAAAACAAAACAAACAAAAA AACCCACAACAATACAAAAATTAGCCAGGTATGGTGGCGTGCGCCCGCAG TCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATTGCTTGAATCCGGGAGG TGGAGGTTGCAGTGAGCCGAGATCGTGTCACTGCACTCCAGCCTGGGTGA CAGCCAGACTCTGTCTCAAGAAAAAGAAAAAAAAAAAAAGCCAGGCGTGG AGATGGGCACCTGTAATTCCAGCTACTCAGGAGCCTGAGGCAGAACTGCT TGAACCAGGGAGGTGGATGCTGCAGAGAGCCGAGGTTGCGCCACTGCACT CCAGGATGGGTAACAGAGTGATATTCTGTCTCAAAAAAAAAAAAATTGCT CTAATCTTTATGTATTTGCTTGTTTGTTCATTTGTTTGAGTCAGGGTCTC GCTCTGTTGCCCAGGCTGGAGTACAGTGCCACCACACCTGGCTAATTTTT GTATTTTTTGTGGAGATAAGGTTACACCATGTTGACCAGGCTGGTCTCGA A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0112 a0001c0001t0005g0112	1	344	0.0029	600	c.857 others(615): Show c.857-551_857-550insTTCGAGACCAGCCTGGTCAACATGGTGTAA CCTTATCTCCACAAAAAATACAAAAATTAGCCAGGTGTGGTGGCACTGTA CTCCAGCCTGGGCAACAGAGCGAGACCCTGACTCAAACAAATGAACAAAC AAGCAAATACATAAAGATTAGAGCAATTTTTTTTTTTTTGAGACAGAATA TCACTCTGTTACCCATCCTGGAGTGCAGTGGCGCAACCTCGGCTCTCTGC AGCATCCACCTCCCTGGTTCAAGCAGTTCTGCCTCAGGCTCCTGAGTAGC TGGAATTACAGGTGCCCATCTCCACGCCTGGCTTTTTTTTTTTTTCTTTT TCTTGAGACAGAGTCTGGCTGTCACCCAGGCTGGAGTGCAGTGACACGAT CTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCAATTCTTCTGCCT CAGCCTCCCAAGTAGCTGGGACTGCGGGCGCACGCCACCATACCTGGCTA ATTTTTGTATTGTTGTGGGTTTTTTTGTTTGTTTTGTTTTGTTTTTTTTT TTTGAGACGGAGTTTCGCTCTTTTTGCCCAGGCTGAAGTGCAGTGGCGCG ATCTCGGCTCACTGCAACCT	VAT1	ENSG00000108828.16	transcript	ENST00000355653.8	protein_coding	4/5			chr17	TogoVar

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Search Results (Total: 10000 hits)