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
TMTC2_chr12_82681906_83139866	82899962	A A	ATGTAGGA others(553): Show ATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATA TACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATA TAGATATGTAGGAATGTATATACATATCCGGAATATAGATCTGTAGGAAT GTATATACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCG GAATATAGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTA GGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATATACAT ATCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATATAGAT ATGTAGGAATGTATATACATATCCGGAATATAGATCTGTAGGAATGTATA TACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCGGAATA TAGATCTGTAGGAATGTATATACATATCCGGAATATAGATCTGTAGGAAT GTATATACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCG GAATATAGATC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	96	0.0104	560	c.148 others(579): Show c.1483+3350_1483+3351insATGTAGGAATGTATATACATATCCGG AATATAGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTAG GAATGTATATACATATCCGGAATATAGATCTGTAGGAATGTATATACATA TCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATATAGATA TGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATAT ACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATAT AGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATG TATATACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCGG AATATAGATCTGTAGGAATGTATATACATATCCGGAATATAGATCTGTAG GAATGTATATACATATCCGGAATATAGATCTGTAGGAATGTATATACATA TCCGGAATATAGATCTGTAGGAATGTATATACATATCCGGAATATAGATC TGTAGGAATGTATATACATATCCGGAATATAGAT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TOLLIP_chr11_1269371_1314632	1287507	G G	GCCTCCCC others(553): Show GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCG CAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCC CCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCA CCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCAC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0121 a0001c0002t0002g0121	1	348	0.0029	560	c.519 others(577): Show c.519+1116_519+1117insGTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGG GAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGA GGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGG CGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287540	A A	ACCGCCGC others(553): Show ACCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGC AGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCC CGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAG CCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCAGCCTCCCCG CCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCC TCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCC GCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTC CCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGC ACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCC CGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCAG CCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCG CCGCAGCCTCC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	348	0.0029	560	c.519 others(577): Show c.519+1083_519+1084insGGAGGCTGCGGCGGGGAGGGTGCGGCGG GGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTG CGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGG AGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCG GCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAG GGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGC GGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGG TGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGG GGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTG CGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGG AGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCG GCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287675	C C	CCCTCCCC others(553): Show CCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCC CCGCCGCAGCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCA GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAGCCTCCCTGCCGCACC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCAGCCTCACCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCAG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0113 a0007c0008t0001g0113	1	348	0.0029	560	c.519 others(575): Show c.519+948_519+949insCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCAGGGAGGCTGC GGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGCTGCGGCGGGGA GGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGG CGGTGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGA GGCTGCGGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930878	G G	GGGTTAGG others(553): Show GGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCT GGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGT TAGGGAGACCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGG AAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAG GCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAG GGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCTGGGGTT AGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCC AGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGG TTAGGGAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	466	0.0022	560	c.47 others(571): Show c.4712_*4713insGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCC TCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGG CCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTC CCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTG ACCCTTGGTCTCCCTAACCCCAGCCTTCCTAACCCCCAGCCTCCCTACCC TGGCCTCCCTAACCCCTGGTCTCCCTAACCCCGGCCTCCCTAACCCCAGC CTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCCAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAG CCTCCCTAACCCCGGCCTCCCTAACC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4491		chr11	TogoVar
TP73_chr1_3647516_3741201	3694741	C C	CGCAATCC others(553): Show CGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCCT GCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCCGCCCCT CCTCCCGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCA GCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCG CCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCCACCCCTCCTCCCGCAA TCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCATGCAGC CTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCC CGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCT GCAGCCTCAGCCCCTCCTCCCGCAATCCCACCCATGCAGCCTCAGCCCCT CCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCA GCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCCACCCATGCAGCCTCAG CCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0227 a0001c0003t0017g0227	1	358	0.0028	560	c.186 others(579): Show c.186+11573_186+11574insCTGCAGCCTCCGCCCCTCCTCCCGCA ATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCATGCAG CCTCCGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTC CCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCC TGCAGCCTCCGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCCACCCC TCCTCCCGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCC AGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCA GCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCA ATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTC CCGCAATCCCAGCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCCACCCA TGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIML1_chr4_188134441_188152743	188151276	T T	TGGGGGTG others(553): Show TGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGGGGAGTGAGAGTGG GGGTGAGAAGGGAGTGAGAGAGGGTTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGGAGTGAGAGTGGGGTTGA GAAGGGGAGTGAGAGAGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAG GGGAGTGAGAGAGGGGGTTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGG GGAGTGAGAGTGGGGTGAGAAGGGAGTGAGAGGGGTTGAGAAGGGGAGTG AGAGAGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAGTGAGAG AGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGGGGAGTGAGAGTGGG GTGAGAAGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGGAGTGAGAGAGGGGTGAGAAGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGTGGGGTTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGGG GAGTGAGAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	228	0.0044	560	c.39 others(571): Show c.3904_*3905insGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGAGTGAGAGAGGGTTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGGAG TGAGAGTGGGGTTGAGAAGGGGAGTGAGAGAGGGGTGAGAAGGGGAGTGA GAGTGGGGTGAGAAGGGGAGTGAGAGAGGGGGTTGAGAAGGGGAGTGAGA GAGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGGGAGTGAGAGGGG TTGAGAAGGGGAGTGAGAGAGGGGTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGAGTGAGAGAGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAG GGGAGTGAGAGTGGGGTGAGAAGGGAGTGAGAGTGGGGGTGAGAAGGGGA GTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTGAGAAGGGAGTGA GAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTTGAGAAGGGGAGTGAGA GTGGGGTGAGAAGGGGAGTGAGAGTG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3534		chr4	TogoVar
TUBGCP3_chr13_112480011_112593153	112540467	C C	CCTATGAG others(553): Show CCTATGAGCATTCAGGTGGTCTTGGGAAAGGACACCTGGGAATGAGGACG TCAATATAGTAGCCCTATGAGCATTCAGGTGGTCTTGGGAAAGGATACCT GGGAGTGATGACGTCAATGTAGTAGCCTATGAGCATTCAGGTGGTCTTGG GAAAGGATACCTGGGAATGAGGACGTCAATGTAGTAGCCTATGAGCATTC AGGTGGTCTTGGGAAAGGATACCTGGGAGTGATGACGTCAATGTAGTAGC CCTATGAGCATTCAGGTGGTCTTGGGAAAGGATACCTGGGAGTGATGACG TCAATGTAGTAGCCTATGAGCATTCAGGTGGTCTTGGGAAAGGACACCTG GGAATGAGGACGTCAATGTAGTAGCCCTATGAGCATTCAGGTGATCTTGG GAAAGGACACCTGGGAATGATGACATCAATGTAGTAGCCTATGAGCATTC AGGTGGTCTTGGGAAAGGACACCTGGGAATGAGGACGTCAATGTAGTAGC CTATGAGCATTCAGGTGGTCTTGGGAAAGGACACCTGGGAATGAGGACGT CAATGTAGTAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0086 a0001c0001t0006g0086	1	312	0.0032	560	c.133 others(579): Show c.1335+5231_1335+5232insCTACTACATTGACGTCCTCATTCCCA GGTGTCCTTTCCCAAGACCACCTGAATGCTCATAGGCTACTACATTGACG TCCTCATTCCCAGGTGTCCTTTCCCAAGACCACCTGAATGCTCATAGGCT ACTACATTGATGTCATCATTCCCAGGTGTCCTTTCCCAAGATCACCTGAA TGCTCATAGGGCTACTACATTGACGTCCTCATTCCCAGGTGTCCTTTCCC AAGACCACCTGAATGCTCATAGGCTACTACATTGACGTCATCACTCCCAG GTATCCTTTCCCAAGACCACCTGAATGCTCATAGGGCTACTACATTGACG TCATCACTCCCAGGTATCCTTTCCCAAGACCACCTGAATGCTCATAGGCT ACTACATTGACGTCCTCATTCCCAGGTATCCTTTCCCAAGACCACCTGAA TGCTCATAGGCTACTACATTGACGTCATCACTCCCAGGTATCCTTTCCCA AGACCACCTGAATGCTCATAGGGCTACTATATTGACGTCCTCATTCCCAG GTGTCCTTTCCCAAGACCACCTGAATGCTCATAG	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	11/21			chr13	TogoVar
TUBGCP3_chr13_112480011_112593153	112540467	C C	CCTATGAG others(553): Show CCTATGAGCATTCAGGTGGTCTTGGGAAAGGACACCTGGGAATGAGGACG TCAATATAGTAGCCCTATGAGCATTCAGGTGGTCTTGGGAAAGGATACCT GGGAGTGATGACGTCAATGTAGTAGCCTATGAGCATTCAGGTGGTCTTGG GAAAGGATACCTGGGAGTGATGACGTCAATGTAGTAGCCTATGAGCATTC AGGTGGTCTTGGGAAAGGACACCTGGGAATGAGGACGTCAATGTAGTAGC CCTATGAGCATTCAGGTGGTCTTGGGAAAGGATACCTGGGAGTGATGACG TCAATGTAGTAGCCTATGAGCATTCAGGTGGTCTTGGGAAAGGACACCTG GGAATGAGGACGTCAATGTAGTAGCCCTATGAGCATTCAGGTGATCTTGG GAAAGGACACCTGGGAATGATGACATCAATGTAGTAGCCTATGAGCATTC AGGTGGTCTTGGGAAAGGACACCTGGGAATGAGGACGTCAATGTAGTAGC CTATGAGCATTCAGGTGGTCTTGGGAAAGGACACCTGGGAATGAGGACGT CAATGTAGTAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	312	0.0032	560	c.133 others(579): Show c.1335+5231_1335+5232insCTACTACATTGACGTCCTCATTCCCA GGTGTCCTTTCCCAAGACCACCTGAATGCTCATAGGCTACTACATTGACG TCCTCATTCCCAGGTGTCCTTTCCCAAGACCACCTGAATGCTCATAGGCT ACTACATTGATGTCATCATTCCCAGGTGTCCTTTCCCAAGATCACCTGAA TGCTCATAGGGCTACTACATTGACGTCCTCATTCCCAGGTGTCCTTTCCC AAGACCACCTGAATGCTCATAGGCTACTACATTGACGTCATCACTCCCAG GTATCCTTTCCCAAGACCACCTGAATGCTCATAGGGCTACTACATTGACG TCCTCATTCCCAGGTGTCCTTTCCCAAGACCACCTGAATGCTCATAGGCT ACTACATTGACGTCATCACTCCCAGGTATCCTTTCCCAAGACCACCTGAA TGCTCATAGGCTACTACATTGACGTCATCACTCCCAGGTATCCTTTCCCA AGACCACCTGAATGCTCATAGGGCTACTATATTGACGTCCTCATTCCCAG GTGTCCTTTCCCAAGACCACCTGAATGCTCATAG	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	11/21			chr13	TogoVar
TWIST2_chr2_238843085_238915534	238870459	C C	CACACCCC others(553): Show CACACCCCACACACACCACACCCCATACACACCACACACCCCACACACAC CACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCATACACACCACACACCCCACACACACCA CACACCCCACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCATACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCATACACACCACACACCCCACACACACCACACACCCCACACACACCACA CACCCCACACACACCACACCCCACACACACCACACCCCATACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCATACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ATACACACCACACCCCACACACACCACACACCCCACACACACCACACAAA CCACACACCCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02615.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0321 a0001c0001t0001g0184 a0001c0001t0001g0321	2	338	0.0059	560	c.35 others(579): Show c.35+21730_*35+21731insCCCACACACACCACACCCCATACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCATACACACC ACACACCCCACACACACCACACACCCCACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCATACACACCACACACCCCACACACACCAC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCATACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCATACACACCACACCCCACACACACCACACAC CCCACACACACCACACAAACCACACACCCTACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
USP12_chr13_27061156_27176811	27063931	A A	AGGGAGGA others(553): Show AGGGAGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGA AGGAAGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAG TAAAGGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGGAGGAAG GAGGGAGGAGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAG AGGAAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAG GAAGGAGGGAGGAGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGAAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGGAGGAAGGAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGGA GAGGAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 NA19043.hp1 HG02559.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0079 a0001c0001t0008g0080 a0001c0001t0008g0079 a0001c0001t0008g0080	2	167	0.0120	560	c.53 others(571): Show c.5351_*5352insCCTTCCTCCTCTCCCTCCCTTCCTCCCTCCCTTC CCTCCCCTCCCTCCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCTTCCTCCCTCCCTTCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCCCTCTCTT TCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCC TCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTC TCCTCCCTCCTTCCTCCCTCCCTTCCTCTCTTTCTCCCTCCCTCTCCTCC CTCCTTCCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTC TTTCACCCTCCCTTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCC TCCCCTCCCTTCCCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTT CTTTCCTCCCTCCCTCCTCTCCTCCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2224		chr13	TogoVar
VCX2_chrX_8164944_8176267	8169467	T T	TCCTCCCT others(553): Show TCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACA CCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCCCCCTCCCT CCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACA CCACCTCTTCCCCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTT CCTCCCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCTCCCTCC CCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACC ACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCC CCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCT CTTCCCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0004 a0005c0011t0004	a0005c0011t0004g0016 a0005c0011t0004g0016	1	115	0.0087	560	c.56 others(569): Show c.564_*565insGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		476		chrX	TogoVar
ZFPM1_chr16_88448280_88542031	88461004	G G	GGACCGAG others(553): Show GGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGG GAGGCCTGGTGAGGACCGAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGC GGGGCGGGAGGCCTGGTGAGGACCGAGGGGCAGAAGGTCTGGTGAGGACC AAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGG ACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACC TGGTGAGGACCGAGGGGCGGGAGACCTGGTGATGACCGAGGGGTGGGGCG GGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGG GCAGAAGGTCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGA CCGAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCGGGAGGCCCTGGTGA GGACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGG TGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGA GACCTGGTGAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0111 a0002c0002t0007g0111	1	318	0.0031	560	c.40+ others(575): Show c.40+7371_40+7372insGCGGGAGGCCTGGTGAGGACCGAGGGGCAG AAGGTCTGGTGAGGACCAAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGA GGGGCAGAAGGTCTGGTGAGGACCAAGGGGCGGGAGGCCCTGGTGAGGAC CCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAG GACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGACC TGGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCG GGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCGAGGG GCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCAGAAGGTCTGGTGAGGA CCAAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGA GGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGA CCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGATGACCGAGGGGTGGGG CGGGAGGCCTGGTGAGGACCGAGGGGCGGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(553): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGGAGGGGAGGGAAGGGGAGGGAGG GGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAG GGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGG CAGGGAGGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGGAGGGGAGGG AGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGG AGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGAGGGGAGGGAG GGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAGGGAAGGGAAG GGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGAAAGAAAG GAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0244 a0002c0009t0002g0244	1	290	0.0035	560	c.205 others(579): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCCTC CCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCC TCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCT CCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCC CCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCTCACTCCC TCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCACTTCCCT TTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(553): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCACATGTGATATATGTCACATATATCACATGTGATATATGTCACATAT ATCACATGTGATATATGTCACATATATCATATATATGATATATATCACAT ATATCATATATATGATATATATCATATATATCATATATATGATATATATC ATATATCATATATATGATATATATCATATATCATATATATGATATATATC ACATATATATATCATATATATCACATATATATCATATATATCACATATAT ATCATATATATCATATATATATCATATATATGATATATATCATATATATA TCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	350	0.0029	560	c.-34 others(571): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCACATGTGATATATGTCACATATATCACATGTG ATATATGTCACATATATCACATGTGATATATGTCACATATATCATATATA TGATATATATCACATATATCATATATATGATATATATCATATATATCATA TATATGATATATATCATATATCATATATATGATATATATCATATATCATA TATATGATATATATCACATATATATATCATATATATCACATATATATCAT ATATATCACATATATATCATATATATCATATATATATCATATATATGATA TATATCATATATATATCATATATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ABR_chr17_998519_1184981	1173225	A A	ACATCACC others(554): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTC AGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAG TCCACCCCCCCGACATCACCTCAGCCCACCCCCCCACACATCACCTCAGC CCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTC AACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCCCA TCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCT CAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCC ACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAA CACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATC ACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCA GTCCACCCCCCC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	337	0.0030	561	c.61+ others(576): Show c.61+6441_61+6442insGGGGGGGTGGACTGAGGTGATGTGTTGGGT GGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTT GGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGG ACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAG GTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATG TGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGG GGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGG GGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGG TGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAP1_chr7_892900_959680	906277	G G	GGAGAAAG others(554): Show GGAGAAAGGGAAAGGAGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGA GAAAGGGAAAGGAGAAAGGATAAAGGAGAAAGGAGAAAGGGAAAGGAGAA AGGAGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGG AGAAAGGAGAAGGGGAAAGGAGAAAGGAGGAAGGAGAAAGGAGAAAGGAG AAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGAGAAAGGGAAT GGAGAAAGGAGAAAGGGAAAGGAGAAAGGGAAAGGAGAAAGGGAAAGGAG AAAGGGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGGAAAGGAGAAAG GAGAAAGGAGAAAGGAGAAGGGGAAAGGGAAAGGAGAAAGGAGAAAGGAG AAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGGAAAGGAGAAAGGGAAAGG AGAAAGGAGAAAGGAGAAGGGGAAAGGGAAAGGAGAAAGGAGAAAGGAGA AAGGGAAAGGAGAAAGGATAAAGGGAAAGGAGAAAGGAGAAAGGAGAGAG GGAAAGGAGAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0011 a0001c0003t0004g0011	1	14	0.0714	561	c.389 others(578): Show c.389-1106_389-1105insTTTCTCCTTTCCCTCTCTCCTTTCTCCT TTCTCCTTTCCCTTTATCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTC TCCTTTCCCTTTCCCCTTCTCCTTTCTCCTTTCTCCTTTCCCTTTCTCCT TTCCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTCTCCTTTCTCCTTTCT CCTTTCCCTTTCCCCTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCCCTT TCTCCTTTCCCTTTCTCCTTTCTCCTTTCCCTTTCTCCTTTCCCTTTCTC CTTTCCCTTTCTCCTTTCCCTTTCTCCTTTCTCCATTCCCTTTCTCCTTT CTCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCT CCTTCCTCCTTTCTCCTTTCCCCTTCTCCTTTCTCCTTTCTCCTTTCCCT TTCTCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCTCCTTTCCCTTTC TCCTTTCTCCTTTATCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCCC TTTCTCCTTTCTCCTTTCTCCTTTCCCTTTCTC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(554): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGGAGGGGGAGGAGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGA GGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGGGAGGAGGGGGGGAG GAGGAGGGGGGAGGAGGGGGGAGGAGGGGGGGAGGAGGGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGG AGGGGGAGGAGGAGGGGGGGGAGGAGGAGGGGGGGAGGAGGAGGGGGAGG AGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAG GAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGG AGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA GGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	301	0.0033	561	c.125 others(582): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCCCCTCCTCC TCCTCCCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCT CCTCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCC CTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCT CCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCTCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC CCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCTCC TCCCCCCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCC CCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCC TCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCC TTCTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTC CCCTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ALLC_chr2_3653200_3707671	3690296	C C	CCCTCCCC others(554): Show CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCC CTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC CTCCCGTCCCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCTCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0020 a0003c0003t0002g0020	1	274	0.0037	561	c.512 others(578): Show c.512-5419_512-5418insTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCGTCCCCCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCTCCCCCCTCCTCCTCCCCTCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(554): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	298	0.0034	561	c.955 others(578): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(554): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGTGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGGAGCGGGAGGAGGAAGGGGAAG ACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGG AGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGA GGAGGAAGGGGGAAGGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAG GAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGA GGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGG AAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTG GGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	300	0.0033	561	c.-70 others(570): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGTGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGGAGCGGGAG GAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGG AAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGG GGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGGAGCGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGA AGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAG AAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAA GGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BRD3OS_chr9_134020481_134036587	134025267	C C	CAGCCCCT others(554): Show CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAACAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCC TCCTCCTGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTC CTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCT CATCCAGCCCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCC TCTCCCAGCTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTCCCAGCCCCTC CTCCCCAGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCTC ACCATCCGGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCA GCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGC CCTTCCTCCTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCC CTCCTCCTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02258.hp1 NA19030.hp2 HG01891.hp1 HG02258.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0004 a0001c0001t0015g0004	3	334	0.0090	561	c.-10 others(572): Show c.-1056_-1055insAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCA GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCTCCTCCAGCCCCTCC TCCTCCTCCAGCCCCTCCTCCTGCCCCTCCTCCTCCTCCAGCCCCTCCTC CTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCT CCAGCCCCTCCTCCTCATCCAGCCCCTCCTCCTCATCCAGCCCTTTCTCC TCTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTCCAGCCCCTCCTC CTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAGCCCCTCCTCCTC CTCGCGCAGACCCTCACCATCCGGCCCCTCCTCCTTCAGCCCCTCCTCCA GCCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGC CCTTCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCCCCTC CTCCTCCTCCAGCCCCTCCTCCTCCAG	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		213		chr9	TogoVar
BRD3OS_chr9_134020481_134036587	134025267	C C	CAGCCCCT others(554): Show CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAACAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCTCC TCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTC CTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCAAGCCCCTCCTCCTCCT CCAGCCCCTCCTCCTCATCCAGCCCCTCCTCCTCATCCAGCCCTTTCTCC TCTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTCCAGCCCCTCCTC CTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAGCCCCTCCTCCTC CTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCAGCCCCTCCTCCA GCCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGC CCTTCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCCCCTC CTCCTCCTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	334	0.0030	561	c.-10 others(572): Show c.-1056_-1055insAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCA GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTC CTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCAA GCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGCCCCTCCTCCTCA TCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTC CTCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCTC CAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCT TCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGC CCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTC CTCCTCCAGCCCCTCCTCCTCCTCCAG	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		213		chr9	TogoVar
C4orf50_chr4_5954375_6023431	6004345	A A	ATGATGTG others(554): Show ATGATGTGGTGGTGATGGTGATGGTGACTGTGATGGTGATGGTGATGATG GTGATGGTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGTGATG GTGATGTTGATGATGGTGGTGATGGTGATGATGTGATGGCGATGATAGTG ATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATGTGATAG TGATGATGGTGATGATGCTGATGGTGATGATGGTGATAGTGATGATGGTG ATGGTGATGATGGTGATGATGGTGATGATGGTGATGGTGATTATGGTGAT GATGGGATGGTGATGTTGATGATGGTGGTGATGGTGATGATGTGATGGCG ATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATG ATAGTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGAT GGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGG TGATGGTGATGATGGTGATGATGGTGATGATGGTGACGGTGATGATGTGA TGGTGATGATGG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0270 a0001c0001t0000g0270	1	346	0.0029	561	c.963 others(578): Show c.963+3650_963+3651insCCATCATCACCATCACATCATCACCGTC ACCATCATCACCATCATCACCATCATCACCATCACCATCATCACCATCAC CATCATCACCATCATCACTATCATCACCATCACCATCACCATCATCACCA TCACCATCATCACCATCATCACCATCATCACTATCATCACCATCACATCA TCACCATCACCATCATCACCATCATCACTATCATCGCCATCACATCATCA CCATCACCACCATCATCAACATCACCATCCCATCATCACCATAATCACCA TCACCATCATCACCATCATCACCATCATCACCATCACCATCATCACTATC ACCATCATCACCATCAGCATCATCACCATCATCACTATCACATCATCACC ATCACATCATCACCATCACCATCATCACCATCATCACTATCATCGCCATC ACATCATCACCATCACCACCATCATCAACATCACCATCACATCATCACCA TCACCATCATCACCATCATCACCATCACCATCACCATCATCACCATCACC ATCACAGTCACCATCACCATCACCACCACATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CACNA1C_chr12_2047987_2702950	2520269	G G	GAGGAGGG others(554): Show GAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTC AGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTT CAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCATGTGCT TCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGC TTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTG CTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGT GCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTG TGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGT GTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCG TGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCC GTGTGCTTCATAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGC CGTGTGCTTCAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0025 a0003c0035t0025	a0003c0035t0025g0078 a0003c0035t0025g0078	1	104	0.0096	561	c.139 others(580): Show c.1390+7427_1390+7428insATGTGCTTCAGAGGAGGGAAGCCATG ACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCAT GACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCA TGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCC ATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGC CATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGGGAAG CCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCAGAGGAGGGAA GCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCATAGGAGGGA AGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCATAGGAGGG AAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAGG GAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520769	G G	GTGTGCTT others(554): Show GTGTGCTTCATAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGC CGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGG CCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATG GCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAAT GGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAA TGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCA ATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCC AATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCC CAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGA CCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTG ACCAATGGCCGTGTGCTTCATAGGAGGGAAGCCATGACAGTCTTCTCATT GACCAATGGCCA	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA19030.hp2 HG02683.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0001 a0001c0020t0002 a0001c0002t0001 a0001c0020t0002	a0001c0002t0001g0091 a0001c0020t0002g0010 a0001c0002t0001g0091 a0001c0020t0002g0010	2	104	0.0192	561	c.139 others(580): Show c.1390+7876_1390+7877insCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAG AGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCA GAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTC AGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTT CATAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCATGTGCT TCATAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGC TTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CAMK2B_chr7_44212154_44330594	44328554	A A	AGTGATGG others(554): Show AGTGATGGTGGTGATGATAGTGATGGTGGTAAGGGTGGTGGTGGTGGTGG TGGTGGTGATGGTAGTGATGATAATGATAATGATAGTGTTGGTGGTGATG GTGGTGGTGATAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTAGT GATGATAATGATAATGATAGTGTTGGTGGTGATGGTGGTGGTGATAGTGG TGGTGGTGATGATGGTGGTGGTGGTGATGGTAGTGCTGCTGATGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGATGGTAGTGATGATAATGATAATGAT AGTGTTGGTGGTGATGGTGGTGGTGATAGTGGTGGTGGTGGTGATGATGG TGGTGGTGGTGATGGTAGTGCTGCTGATGGTGGTGGTGGTGGTAATGGTG GTGGTGGTAATGGTGATGGTGATGATGGTAATGGTGGGGATGGCGATGGT GGTGGTGGTTATGATAATGATGGTAATGCTGATGCTGGTGGTGGTGATGG TGGTAGTGATGGCCGTGGTGATAGTTGTGTCAATGGTGGTGGTGGTGTCA ATGGTGGTGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	242	0.0041	561	c.-31 others(572): Show c.-3134_-3133insCACCACCACCATTGACACCACCACCACCATTGAC ACAACTATCACCACGGCCATCACTACCACCATCACCACCACCAGCATCAG CATTACCATCATTATCATAACCACCACCACCATCGCCATCCCCACCATTA CCATCATCACCATCACCATTACCACCACCACCATTACCACCACCACCACC ATCAGCAGCACTACCATCACCACCACCACCATCATCACCACCACCACCAC TATCACCACCACCATCACCACCAACACTATCATTATCATTATCATCACTA CCATCACCACCACCACCATCACCACCACCACCACCATCAGCAGCACTACC ATCACCACCACCACCATCATCACCACCACCACTATCACCACCACCATCAC CACCAACACTATCATTATCATTATCATCACTACCATCACCACCACCACCA TCACCACCACCACCACTATCACCACCACCATCACCACCAACACTATCATT ATCATTATCATCACTACCATCACCACCACCACCACCACCACCACCCTTAC CACCATCACTATCATCACCACCATCAC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding		2961		chr7	TogoVar
CCDC198_chr14_57464300_57498857	57498800	G G	GTGTGTAT others(554): Show GTGTGTATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTG TGTATATGGTATATATATATAATATGGTATATATATAATATGGTATATAT ATGTGTGTGTGTGTGTATATATGGTATATATATATAATATGGTATATATA TGTGTGTGTGTGTGTATATGGTATATATATAATATGGTATATATATGTGT GTGTGTATATGGTATATATATATAATATGGTATATATATGTGTGTGTATA TGGTATATATATATAATATGGTATATATATGTGTGTGTGTATATATGGTA TATATATATAATATGGTATATATATGTGTGTGTGTGTGTATATATGGTAT ATATATATAATATGGTATATATAGTGTGTGTGTGTGTATATATGGTATAT ATATATAATATGGTATATATATGTGTGTGTGTGTGTATATATGGTATATA TATATAATGTGGTATATATATGTGTGTGTGTATATATGGTATATATATAA TATGGTATATATATGTGTGTGTGTGTGTATATATGGTATATATATATAAT ATGGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	362	0.0028	561	c.-50 others(572): Show c.-5086_-5085ins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	CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding		4944		chr14	TogoVar
CCDC6_chr10_59783747_59911556	59882384	G G	GGAGAAGG others(554): Show GGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAA GGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAA AGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAA GCCGGCGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCG CGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGG GAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGA AGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAA GGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAA AGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGC GGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAA GGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAA AGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0074 a0001c0003t0003g0074	1	288	0.0035	561	c.303 others(580): Show c.303+23737_303+23738insGCCGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTT CCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTC CTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTC CCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGC CGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCT TTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCC TTCTCCCCGCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCT CCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTT CCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(554): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCACCTCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCC CCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCT CCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	256	0.0039	561	c.-45 others(582): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCACCTCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCC CTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCC TCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP46_chr10_132803392_132947570	132914022	C C	CCCCCGGC others(554): Show CCCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTG TGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCA CCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGT GTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCAC CCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTG TCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACC CCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGT CCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCC CGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTC CAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCC GGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCC AGCCACACTGCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0219 a0005c0013t0001g0219	1	246	0.0041	561	c.212 others(578): Show c.2121-765_2121-764insTGCAGTGTGGCTGGACACAGCCTCGGGC CGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCT GGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCC GGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTG GACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCG GGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGG ACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGG GGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGA CACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGG GTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGAC ACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGG TGCAGTGTGGCTGGACACAGCCTCGGGCCGGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914028	C C	CCCTGAGG others(554): Show CCCTGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0035 a0035	a0035c0057 a0035c0057	a0035c0057t0001 a0035c0057t0001	a0035c0057t0001g0234 a0035c0057t0001g0234	1	246	0.0041	561	c.212 others(578): Show c.2121-771_2121-770insCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTG GCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGG GCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGG CTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG CCGGGGTGCAGTGTGGCTGGACACAGCCTCAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914127	C C	CCCCGAGG others(554): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0029 a0029	a0029c0100 a0029c0100	a0029c0100t0002 a0029c0100t0002	a0029c0100t0002g0019 a0029c0100t0002g0019	1	246	0.0041	561	c.212 others(578): Show c.2121-870_2121-869insCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGGCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTG GCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGG GGCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGG CTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG CCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
COL5A1_chr9_134636803_134849843	134760325	C C	CACACCCA others(554): Show CACACCCACACACCCCCACACATACACACATGCACACACACCACACATGC ACACACACCACACATGCACACATACGCATACACACCCACACACCCACACT CATACACACATGCACACACCACACATGCATACACACCCACGCACCCCCAC ACTCATACACACATGCACACACACCACACATGCACACAATACACACCCAC ACTCCCACACTCATACACACATGCACACACACCACACATGCACACACGCA TACACACCCACACCCCCCCCACTCACACGCACACCCCCACACCCCCACAC TCATACACACATGCACACACACCACACAGGCACACACACACCCACGCACC CCCACACTCATACATGCACACACACGCATACACGCCCACACACCCCCATA CTCATACACGCCCACACACCCCCACACTCACATGTGCACAGACACCACAC ATGCACACACATACATGCACACACACATACACACCCACACCCCCACACTC ATACACACATGCACACACACATGCGCGCACACGCATACACACCCACACAC CCCACACTGATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0004 a0001c0039t0004	a0001c0039t0004g0197 a0001c0039t0004g0197	1	272	0.0037	561	c.193 others(580): Show c.1936-1600_1936-1599insACACCCACACACCCCCACACATACAC ACATGCACACACACCACACATGCACACACACCACACATGCACACATACGC ATACACACCCACACACCCACACTCATACACACATGCACACACCACACATG CATACACACCCACGCACCCCCACACTCATACACACATGCACACACACCAC ACATGCACACAATACACACCCACACTCCCACACTCATACACACATGCACA CACACCACACATGCACACACGCATACACACCCACACCCCCCCCACTCACA CGCACACCCCCACACCCCCACACTCATACACACATGCACACACACCACAC AGGCACACACACACCCACGCACCCCCACACTCATACATGCACACACACGC ATACACGCCCACACACCCCCATACTCATACACGCCCACACACCCCCACAC TCACATGTGCACAGACACCACACATGCACACACATACATGCACACACACA TACACACCCACACCCCCACACTCATACACACATGCACACACACATGCGCG CACACGCATACACACCCACACACCCCACACTGATA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65			chr9	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(554): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCATCCCCC CACCCACCCATCTGTCCACCCATCCATCCACCCATCCCCCCACCCACCCA TCCGTCCATCCATCCCCCCGCCCACCCATCCGTCCATCCATCCCCCCACC CACCCATCTGTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCA TCTGTCCACCCATCCGTCCACCCATCCGTCCACCCATCCATCCACCCATC CCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCA TCCCCCCACCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTC CATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCA TCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATC CGTCCACCCATCCGTCCACTCACCCATCCGTCCACTCACCCATCTGTCCA CCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00140.hp1 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0341 a0001c0001t0001g0265 a0001c0001t0001g0341	2	348	0.0058	561	c.13 others(572): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCCCCCGCCCACCCATCTGTCCACCCATCC GTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCATCCACCCAT CCCCCCACCCACCCATCCGTCCATCCATCCCCCCGCCCACCCATCCGTCC ATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCGCCCACCCAT CCGTCCACCCACCCATCTGTCCACCCATCCGTCCACCCATCCGTCCACCC ATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCCCCCACCCAC CCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCC ACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCATCCACCCAT CCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCC ATCCCCCCACCCATCCGTCCACCCATCCGTCCACTCACCCATCCGTCCAC TCACCCATCTGTCCACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CROCC2_chr2_240901336_240998311	240923713	G G	GTCCCCAC others(554): Show GTCCCCACACTATCCCGGCCCCCCACACTACCCCGGCCCCCCACACTAAC CCAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAA CCCGGCCCCCACACTGACCCAGCCCCCCACACTGACCCGGCCCCCACACT GACCCAGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCCAC ACTAACCCAGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCC CCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGC CCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCC AGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGTCCCCACACTAA CCCAGCCCCCAACACTAACCCAGCCCCCCACACTATCCCGGCCCCCACAC TAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACA CTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCC CACACTAACCCA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0122 a0012c0013t0001g0122	1	350	0.0029	561	c.488 others(578): Show c.488+1068_488+1069insTCCCCACACTATCCCGGCCCCCCACACT ACCCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACA CTAACCCGGCCCCCACACTAACCCGGCCCCCACACTGACCCAGCCCCCCA CACTGACCCGGCCCCCACACTGACCCAGCCCCCCACACTAACCCGGCCCC CACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGC CCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCC GGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGA CCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCACA CTAACCCAGTCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCC ACACTATCCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCC CACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCC CCCCACACTAACCCGGCCCCCCACACTAACCCA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
DCLK2_chr4_150073445_150262438	150251277	C C	CCACACAC others(554): Show CCACACACCCCCCACACACCCCCCACACCCCCACACACCCCCCACACCAC ACATCCCCCACACCCCCCAACACCCCCACACACCCCCCACACCACACATC CCCCACACCCCCCACACCACACATCCCCCACACCCCCCAACACCCCCACA CCCCCACACCCCACACACCCCCCACACCACACATCCCCCACACCCCCCAC ACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCAACACCCC CACACCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCC CCCAACACCCCCACACCCCCACACCCCCCCACACCACACATCCCCCACAC CCCCCACACCACACACCCCCCACATCCCCACACACCACAAATCCTCCACA CCCCCCAACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCC AACACCCCCACACCCCACACCCCCCAAATCCCCCACACCCCCCACATCCC CCATACCCCTCACACCACACATTCCCTCACACCCCTCACACCACACATTC CCTCACACCCCT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0020 a0001c0011t0020	a0001c0011t0020g0065 a0001c0011t0020g0065	1	116	0.0086	561	c.207 others(580): Show c.2073+1598_2073+1599insACCCCCCACACACCCCCCACACCCCC ACACACCCCCCACACCACACATCCCCCACACCCCCCAACACCCCCACACA CCCCCCACACCACACATCCCCCACACCCCCCACACCACACATCCCCCACA CCCCCCAACACCCCCACACCCCCACACCCCACACACCCCCCACACCACAC ATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCT CACACCCCCCAACACCCCCACACCCCCACACCCCCACACACCCCCCACAC CACACATCCCCCACACCCCCCAACACCCCCACACCCCCACACCCCCCCAC ACCACACATCCCCCACACCCCCCACACCACACACCCCCCACATCCCCACA CACCACAAATCCTCCACACCCCCCAACACCCCCACACACCCCCCACACCA CACATCCCTCACACCCCCAACACCCCCACACCCCACACCCCCCAAATCCC CCACACCCCCCACATCCCCCATACCCCTCACACCACACATTCCCTCACAC CCCTCACACCACACATTCCCTCACACCCCTCACAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DISP3_chr1_11474155_11542551	11522607	G G	GCCCAGCC others(554): Show GCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGA CCCAGCCAGGGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGC CAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGAC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCA GGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAA GACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCGAGAGCCCA GCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG GCCCAGCCAGGA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19085.hp1 NA18970.hp2 NA19085.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0196 a0003c0003t0001g0197 a0003c0003t0001g0196 a0003c0003t0001g0197	2	358	0.0056	561	c.236 others(580): Show c.2363-1304_2363-1303insGACCCAGCCAGAGCCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GGGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAG GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGC CAGGACCCAGCCAAGACCCAGCCAGGACCCAGCGAGAGCCCAGCCAGGGC CCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522607	G G	GCCCAGCC others(554): Show GCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGA CCCAGCCAGGGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGC CAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGAC CCAGCCAGGGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCA GGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAA GACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCGAGAGCCCA GCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG GCCCAGCCAGGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0190 a0005c0006t0001g0190	1	358	0.0028	561	c.236 others(580): Show c.2363-1304_2363-1303insGACCCAGCCAGAGCCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GGGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAG GGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGC CAGGACCCAGCCAAGACCCAGCCAGGACCCAGCGAGAGCCCAGCCAGGGC CCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522629	G G	GCCCAGCC others(554): Show GCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAG CCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGC CAGGGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGGCCCAGCAAGAGCCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG GGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCA GCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGA GCCCAGCCAGGA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0329 a0004c0004t0004g0329	1	358	0.0028	561	c.236 others(580): Show c.2363-1304_2363-1303insGACCCAGCCAGAGCCCAGCCAGGGCC CAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCA GAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCC AGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGG ACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCAAGAGCCCAG CCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGAC CCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCC AGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522738	G G	GGCCCAGC others(554): Show GGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGA GCCCAGCCAGGACCCAGCGAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAG CCAGGGCCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGC CAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCC AGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAG GACCCAGCCAGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0004 a0004c0010t0004	a0004c0010t0004g0312 a0004c0010t0004g0312	1	358	0.0028	561	c.236 others(580): Show c.2363-1193_2363-1192insGCCCAGCCAGGGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGACCCAGCGAGAGCCCAGCCAGGGCCCA GCGAGAGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGG ACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAG CCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGC CAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCC AGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522738	G G	GGCCCAGC others(554): Show GGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGA GCCCAGCCAGGACCCAGCGAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAG CCAGGGCCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGC CAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCC AGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAG GACCCAGCCAGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02897.hp1 HG02717.hp1 HG02897.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0014 a0004c0010t0014	a0004c0010t0014g0291 a0004c0010t0014g0292 a0004c0010t0014g0291 a0004c0010t0014g0292	2	358	0.0056	561	c.236 others(580): Show c.2363-1193_2363-1192insGCCCAGCCAGGGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGACCCAGCGAGAGCCCAGCCAGGGCCCA GCGAGAGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGG ACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAG CCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGC CAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCC AGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DOCK8_chr9_209865_470255	400097	C C	CCACCACC others(554): Show CCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACC TCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACTAT CACCACCACCTCCACCATCACCACCTCCACCATCACCACCACCACCTCCA CCATCACCACCACCTCCACCATCACCACCTCCACCACCACCACCTCCACC ATCACCACCTCCTCCATCACCACCACCATCTTCACCATCACCACCACCTC CACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACCACCA CCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACC ACCTCCACCATCACCACCACCACCTCCACCATCACCACCTCCACCATCAC CACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCTCCACCA TCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCTCCTCCATCACCACCAC CATCTTCACCAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0046 a0046	a0046c0045 a0046c0045	a0046c0045t0003 a0046c0045t0003	a0046c0045t0003g0004 a0046c0045t0003g0004	1	256	0.0039	561	c.323 others(578): Show c.3234+855_3234+856insTCACCACCACCTCCACCATCACCACCAC CACCTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCA CTATCACCACCACCTCCACCATCACCACCTCCACCATCACCACCACCACC TCCACCATCACCACCACCTCCACCATCACCACCTCCACCACCACCACCTC CACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCACCACCA CCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACC ACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCAT CACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCTCCACCA TCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCAC CTCCACCATCACCACCACCACCTCCACCATCACCACCTCCTCCATCACCA CCACCATCTTCACCATCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(554): Show CACCACCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCT CCACCACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACC ACCTCCTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCAC CACCATCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCAGCTCCACCATCACCACCTCCTTCACC ATCACCACCACCACCTCCTCCACCACCACCACCACCTCCACCACCACCTC CTCCACTACCACCACCATCTTCACCATCACCACCACCACCTCCATCACCA CCACCTCCACCACCACCACCACCTCCATCACCACCACCACCACCACCACC ACCACTTCCACCATCACCACCTCCTTCACCATCACCACCACCACCACCAC CACCACCTCCACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCA CCATCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCT ATCACCTCCAAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0005 a0002c0021t0005	a0002c0021t0005g0250 a0002c0021t0005g0250	1	256	0.0039	561	c.323 others(580): Show c.3234+1717_3234+1718insCCACCACCTCCTCCACCATCACCACC AGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACCAC CTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCACCTCCA CCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACCACC TCCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCTC CACCATCACCACCTCCTTCACCATCACCACCACCACCTCCTCCACCACCA CCACCACCTCCACCACCACCTCCTCCACTACCACCACCATCTTCACCATC ACCACCACCACCTCCATCACCACCACCTCCACCACCACCACCACCTCCAT CACCACCACCACCACCACCACCACCACTTCCACCATCACCACCTCCTTCA CCATCACCACCACCACCACCACCACCACCTCCACCACCACCGTCACCACC TTCTCCACCACCACCATCTTCACCATCACCACCATCGCCCTGCCCACCTC TAGCAATATTATCACCTTTCCTATCACCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89634674	C C	CCCTTCCT others(554): Show CCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCCTACCTTCCCTTTCCCTTCCCTTCCCTTCCCTTCCT TCCCATTCCTCCTTCTCCTTTCCCTCCTTCTCCTTTCCCATCCTTCCCTT TCCCTTCCTTCCCTTTCCCTTCCTACCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCTTCCTTCTCCTTTCCCT TCCTCCCTTTCCCTTCCTTCTCCTTTCCTTCCTTCCCTTTCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCT TCCCTTCCCTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	250	0.0040	561	c.105 others(578): Show c.105-1232_105-1231insTTCCTTCCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTACCTTCCCTTTCCCT TCCCTTCCCTTCCCTTCCTTCCCATTCCTCCTTCTCCTTTCCCTCCTTCT CCTTTCCCATCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTACCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCTTCCTTCTCCTTTCCCTTCCTCCCTTTCCCTTCCTTCTCCTTTCCTTC CTTCCCTTTCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTCCTTCCTTCTCCTTT CCCTTCCTTCCCTTTCCCTTCCCTTCCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPP6_chr7_154047398_154899285	154093490	A A	ACCACACA others(554): Show ACCACACACACAAACACAAACACCACACATACCACGCACACCTACACCCA AAGACACTGTACACCATACACCACACTGTACACACCACACACCACACCAC ACCAGCCACCACACATACAGCACACACACAAACACACCACACACACTACA CTATATACCACACACACTCCAAACCCCACACACATTACACATCACACCAC ACACACACACACCAGATAACATACCACACACTACATACCACATGTACCAC ACACAACACACATCCGACATACCACACACAGCACATACCACATACCACAT TACATACCACACCACATACCACACATCCTACATACCACATCATACACACC ACACACAACACATACTACACACCCCACAGTACCACATACACCACATAACA CACTACATGCCACACTTCTTCCATACATCATACATACCACAAACATCACA CAGCACACAGCACATACCACACATTCCACATACGACATCATACACACCAC ACACACTGCACATATTATACCAACACATCCCACATACCATATCATATACA CCACACACAAAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0024 a0001c0003t0007g0024	1	38	0.0263	561	c.243 others(580): Show c.243+40440_243+40441insCACAAACACCACACATACCACGCACA CCTACACCCAAAGACACTGTACACCATACACCACACTGTACACACCACAC ACCACACCACACCAGCCACCACACATACAGCACACACACAAACACACCAC ACACACTACACTATATACCACACACACTCCAAACCCCACACACATTACAC ATCACACCACACACACACACACCAGATAACATACCACACACTACATACCA CATGTACCACACACAACACACATCCGACATACCACACACAGCACATACCA CATACCACATTACATACCACACCACATACCACACATCCTACATACCACAT CATACACACCACACACAACACATACTACACACCCCACAGTACCACATACA CCACATAACACACTACATGCCACACTTCTTCCATACATCATACATACCAC AAACATCACACAGCACACAGCACATACCACACATTCCACATACGACATCA TACACACCACACACACTGCACATATTATACCAACACATCCCACATACCAT ATCATATACACCACACACAAACCCACACACACAAA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXD3_chr9_137301896_137428162	137329476	G G	GCTACACG others(554): Show GCTACACGGGGCTACACGGGAGCTACACGGGACTACACAGGGTCACACGG GACTACACGGGACTACAGGGGACTACACGGGGTCACACGGGACTACACGG GACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGG GACTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGG GGCTACACGGGACTACACGGGGTCACACGGGAGTACACGGGACTACACGG GACTACACGGGGTCACACGGGACTACACGGGACTACACGGGGCTACACGG GACTACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGG GACTACACAGGGTCACACGGGACTACACGGGACTACACGGGACTACACGG GGTCACACGGGACTACACGGGACTACACGGGGCTACACGGGACTACACAG GGTCACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGG GACTACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGG GACTACACGGGA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	82	0.0122	561	c.199 others(580): Show c.1999-5334_1999-5333insTCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCTGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGTCCCGTGTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAGTCCCGT GTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGT GTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGT GTACTCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGT GTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCCTGTAGTCCCGTGTAGTCCCGTGTGACCCTGT GTAGTCCCGTGTAGCTCCCGTGTAGCCCCGTGTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137355478	A A	AGGAGAAA others(554): Show AGGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGAGGACGGAGGAAGGAGGA TGGAGGAAGGAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAAGGAGGAA GGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGATGGAGGAA GGAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGACG GAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAG GAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAG GAGGATGGAGGAAGGAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAAGG AGGAAGGAGGATGGAGGAAGGGAGGATGGAGGAAGGAGAAAGGAGGAAGG AGAAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAAAGG AGGAAGGAGGACGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGG AGGACAGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGAGGAAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0010 a0010	a0010c0006 a0010c0006	a0010c0006t0001 a0010c0006t0001	a0010c0006t0001g0047 a0010c0006t0001g0047	1	82	0.0122	561	c.758 others(576): Show c.758-706_758-705insCTTCCTCCTTCCTCCTTCCTCCTTCCTCCT TCCTCCATCCTCCTTCCTCCTTCCTCTGTCCTCCTTCCTCCTTCCTCCTT CCTCCCTTCCTCCTTCCTCCGTCCTCCTTCCTCCTTTCTCCTTCCTCCCT TTCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTTCTCCTT CCTCCATCCTCCCTTCCTCCATCCTCCTTCCTCCTTCCTCCATCCTCCTT CCTCCGTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCCTTCCTCCTT CCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCCTTCCTCCTT CCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCGTCCTCCTTCCTCCTTC CTCCATCCTCCTTCCTCCGTCCTCCTTCCTCCTTCCTCCATCCTCCTTCC TCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCC TCCTTCCTCCGTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCGTCCT CCTTCCTCCTTTCTCCTTCCTCCCTTTCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
GRAMD1B_chr11_123425269_123632767	123584374	T T	TGGGAGGG others(554): Show TGGGAGGGGGAATGGAGGTTGGGGGGAAAGGGTGTGGGGTGCGATTGGGG GAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGAAGG GGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGA ATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGG AGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGT TGGGGGAAGGGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTG GGGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGG GGAAGGGGTGTGGGGTGCGGTTGGGGGGAGGGGGAATGGAGGTTGGGGGG AAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAG GGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGT GTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTG GGGTGCGGTTGG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0116 a0001c0001t0004g0116	1	282	0.0036	561	c.684 others(574): Show c.684+66_684+67insGAAAGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGAAGGGGGAATG GAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGG TTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGG GGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGA AGGGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAA GGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGG GTGTGGGGTGCGGTTGGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGT GTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTG GGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGT GCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCG GTTGGGGGAGGGGGAATGGAGGTTGGGGG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HELZ2_chr20_63553086_63579239	63571551	C C	CGGTGGGC others(554): Show CGGTGGGCTCCTGCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCT ACGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCC TGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGC CTGTGGTGGGCTCCTGCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTG CCTGTGGTGGGCTCCTGCCCTACTCCAAGCTCCTGGGAACCTCTGGCTCT GCCTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTC TGCCTACGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCT CTGCCTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGC TCTGCCTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGG CTCTGCCTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTG GCTCTGCCTACGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAGCCTCT GGCTCTGCCTGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18522.hp2 HG01081.hp2 NA18522.hp2	a0021 a0021	a0021c0031 a0021c0031	a0021c0031t0003 a0021c0031t0088 a0021c0031t0003 a0021c0031t0088	a0021c0031t0003g0153 a0021c0031t0088g0152 a0021c0031t0003g0153 a0021c0031t0088g0152	2	390	0.0051	561	c.278 others(576): Show c.278+556_278+557insACAGGCAGAGCCAGAGGCTCCCAGGAGCTT GGAGCGGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCAGGAGCT TGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGGAGC TTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGCTCCCAGGAG CTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGCTCCCAGGA GCTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCAGG AGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAG GAGCTTGGAGTAGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCA GGAGCTTGGAGTGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCC AGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCC CAGGAGCTTGGAGCAGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTC CCAGGAGCTTGGAGTGGGGCAGGAGCCCACC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar

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Search Results (Total: 10000 hits)