Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(671): Show ACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAG CCACCAGACAACGCACAGCCACCAGACAACCCACAGCCACCAGACAACGC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCC ACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCAC AGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0045 a0002c0002t0045	a0002c0002t0045g0102 a0002c0002t0045g0102	1	292	0.0034	678	c.377 others(695): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGCGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(671): Show ACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAG CCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACCC ACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCC ACCAGACAACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCAC AGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0016 a0006c0006t0016	a0006c0006t0016g0224 a0006c0006t0016g0224	1	292	0.0034	678	c.377 others(695): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG TGGGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(671): Show ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAAC CCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAG CCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC GCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCCACCAGACA ACGCACAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAAC CCACAGCCACCAGACAACGCACAGCCACCAGACAACGCACAGCCACCAGA CAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0104 a0002c0104	a0002c0104t0001 a0002c0104t0001	a0002c0104t0001g0027 a0002c0104t0001g0027	1	292	0.0034	678	c.377 others(695): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(671): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGC GCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0094 a0094	a0094c0051 a0094c0051	a0094c0051t0001 a0094c0051t0001	a0094c0051t0001g0046 a0094c0051t0001g0046	1	292	0.0034	678	c.377 others(695): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MIER2_chr19_300573_349796	303606	C C	CTCAATAC others(671): Show CTCAATACACCAAAGCACATCCTCATCAATACACCAAAGCACATCCTCAT CAGACTCAATACACCAAAGCACATTCTCATCAGACTCAATACACCAAAGC ACATTCTCATCAGACACCTCAATACACCAAAGCACATCCTCATCGGACTC AATACACCAAAGCACATCCTCATCGGACTCAATACACCAAAGCACATCCT CATCAGACTCCTCAATACACCAAAGCACATCCTCATCAGACTCAATACAC CAAAGCACATTCTCATCAGACACCTCAATACACCAAAGCACATCCTCATC AGACTCAATACACCAAAGCACATTCTCATCAGACTCAATACACCAAAGCA CATTCTCATCAGACACCTCAATACACCAAAGCACATCCTCATCGGACTCA ATACACCAAAGCACATCCTCATCAGACTCCTCAATACACCAAAGCACATC CTCATCAGACACCTCAATACACCAAAGCACACCCTCATCAGACACCTCAA TACACCAAAGCACATTCTCATCAGTCACCTCAATACACCAAAGCACATCC TCATCAGACTCAATACACCAAAGCACATTCTCATCAGACACCTCAATACA CCAAAGCACATCCTCATCAGACTCAATACACCAAAGCACATTCTCATCAG ACACCTCAATACACCAAAGCACATCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	384	0.0026	678	c.30 others(689): Show c.3083_*3084insTGAGGATGTGCTTTGGTGTATTGAGGTGTCTGAT GAGAATGTGCTTTGGTGTATTGAGTCTGATGAGGATGTGCTTTGGTGTAT TGAGGTGTCTGATGAGAATGTGCTTTGGTGTATTGAGTCTGATGAGGATG TGCTTTGGTGTATTGAGGTGACTGATGAGAATGTGCTTTGGTGTATTGAG GTGTCTGATGAGGGTGTGCTTTGGTGTATTGAGGTGTCTGATGAGGATGT GCTTTGGTGTATTGAGGAGTCTGATGAGGATGTGCTTTGGTGTATTGAGT CCGATGAGGATGTGCTTTGGTGTATTGAGGTGTCTGATGAGAATGTGCTT TGGTGTATTGAGTCTGATGAGAATGTGCTTTGGTGTATTGAGTCTGATGA GGATGTGCTTTGGTGTATTGAGGTGTCTGATGAGAATGTGCTTTGGTGTA TTGAGTCTGATGAGGATGTGCTTTGGTGTATTGAGGAGTCTGATGAGGAT GTGCTTTGGTGTATTGAGTCCGATGAGGATGTGCTTTGGTGTATTGAGTC CGATGAGGATGTGCTTTGGTGTATTGAGGTGTCTGATGAGAATGTGCTTT GGTGTATTGAGTCTGATGAGAATGTGCTTTGGTGTATTGAGTCTGATGAG GATGTGCTTTGGTGTATTGATGAGGATGTGCTTTGGTGTATTGA	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		1966		chr19	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(671): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAG GGGAGGGGGGAGGGGGAGGGTAGGGGGGAGGGGGAGGGGAGGGGGGAGGG GGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGG GGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGG GGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGG GGGAGGGAGGGGAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0213 a0002c0002t0002g0213	1	272	0.0037	678	c.250 others(693): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCCTACCCTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCC CCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCC CCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCC CTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTC CTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(671): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCGTCTCC CCTCCCGTCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCTCCCCTCCCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCC TCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCTCCTCCCCTCC CCTCCCATCCCCTCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0014 a0002c0006t0001g0014	1	140	0.0071	678	c.114 others(697): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCCTCCTCCCTCC CCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTC CCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCC CCTCCCCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCCCTCCTCCC CT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
NEU4_chr2_241804193_241822413	241806002	A A	ACCTTCCC others(671): Show ACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0019 a0002c0003t0002g0019	1	319	0.0031	678	c.-32 others(689): Show c.-3276_-3275insCCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACC CAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCT GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAAC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3190		chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(671): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACTGTGTATGCAGTATGTATACAGTATACATACTGC ATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATA TATACACTATACAGTATGTATACTGTATATATACACTATACAGTATGTAT ACTGTATATATACACACAGTATGTATACTGTATATATACACACAGTATGT ATACTGTATATATACACACAGTATGTATACTGTATATATACACACAGTAT GTATACTGTATATATACACACAGTATGTATACTGTATATATACACACAGT ATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACA GTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0273 a0001c0007t0001g0273	1	362	0.0028	678	c.-75 others(697): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAG TATACATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATAC AGTATACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGT ATATATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTG CATGCAGTATGTATACTGTATACATACTGCATACACAGTATACATACTGT GTATATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGT ATATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTAT ATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACATACAGTATACATACATACAGTATACATACATACAGT ATACATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGTACA CA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136528441	A A	AGGGGGGG others(671): Show AGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACAGTGAG GGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGC AGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGAC AGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGC GATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGG CAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGAC AGTGCGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTG AGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGAT GGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGGG CAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGG ACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGG GGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATG GGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGG ACAGTGCGGGGGGGATGGGCAGGGACAGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0084 a0001c0006t0004g0084	1	324	0.0031	678	c.141 others(695): Show c.141-4463_141-4462insACTGTCCCTGCCCATCCCCCCCGCACTG TCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGC CCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCC CCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTG TCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCT GCCCATCCCCCCCCACTGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCC TCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCGCAC TGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCT GCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CGCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCCCCCTCAC TGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCC TGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCC CCTCACTGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136528441	A A	AGGGGGGG others(671): Show AGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACAGTGAG GGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGC AGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGAC AGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGC GATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGG CAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGAC AGTGCGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGT GAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGA TGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGG GCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGG ACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGG GGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATG GGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGG ACAGTGCGGGGGGGATGGGCAGGGACAGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0075 a0001c0002t0006g0075	1	324	0.0031	678	c.141 others(695): Show c.141-4463_141-4462insACTGTCCCTGCCCATCCCCCCCGCACTG TCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGC CCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCC CCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTG TCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTG CCCATCCCCCCCCACTGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCC ATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCT CACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCCCCCCCGCAC TGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCT GCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CGCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCCCCCTCAC TGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCC TGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCC CCTCACTGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136528441	A A	AGGGGGGG others(671): Show AGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACAGTGAG GGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGC AGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGAC AGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGC GATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGG CAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGAC AGTGCGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGT GAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGA TGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGG GCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGG GACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGG GGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGAT GGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGG GACAGTGCGGGGGGATGGGCAGGGACAGT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0089 a0001c0002t0006g0089	1	324	0.0031	678	c.141 others(695): Show c.141-4463_141-4462insACTGTCCCTGCCCATCCCCCCGCACTGT CCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCC CATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCC CCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGT CCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTG CCCATCCCCCCCCACTGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCC ATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCT CACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCCCCCCCGCAC TGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCT GCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CGCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCCCCCTCAC TGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCC TGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCC CCTCACTGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(671): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTG TGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGG TGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGA GTCTGGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCG GGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCAC TGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGG GGGGGCGTGGGGATGCACTGAGTCTGGGGGGGGGGGGGTGTGGGGATGCA CTGAGTCTGGGGGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGGGGG GGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGTGTGGGGATGCA CTGAGTCTGGGGGAGGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGGGG GGGGTGTGGGGATGCACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0072 a0072	a0072c0132 a0072c0132	a0072c0132t0001 a0072c0132t0001	a0072c0132t0001g0122 a0072c0132t0001g0122	1	282	0.0036	678	c.299 others(693): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCCCCCAGACTCAGTGCATCCCCACGCCCCCCCCTCCCCCAGACTCAGT GCATCCCCACACCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCC CCCCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCCCCCAGACTCAGT GCATCCCCACACCCCCCCCCCCCCAGACTCAGTGCATCCCCACGCCCCCC CCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAG TGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCC GCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCCAGACT CAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACAC CCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGA CTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCAC ACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACGCCCCCCCTCCCCCCA GACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCC ATGCCCCGCCCTCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(671): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCA TCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGC ACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCACC ATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCTCACCATCACCATCACCACCATCATCACCACCACCATCACCACC ACCATCACCATCACCATCACCACCATCATCATCACCACCACCACCACCAC CACCACCACCATCATCACCATCACCACCAGCACCACCACCATCACCACCA CCATCACCACCACCACCACCACCATCATCACCATCACCACCAGCACCACC ACCAACATCATCATCATCACCACCACCACCACCATCAACACCACCATCAT CATCACCACCACCACCATCACCACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02056.hp2 HG02074.hp1 others(2): Show HG00673.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp2	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0009	a0001c0001 a0005c0006 a0007c0009 others(1): Show a0001c0001 a0005c0006 a0007c0009 a0009c0017	a0001c0001t0001 a0005c0006t0003 a0005c0006t0009 others(2): Show a0001c0001t0001 a0005c0006t0003 a0005c0006t0009 a0007c0009t0001 a0009c0017t0002	a0001c0001t0001g0091 a0005c0006t0003g0167 a0005c0006t0009g0275 others(2): Show a0001c0001t0001g0091 a0005c0006t0003g0167 a0005c0006t0009g0275 a0007c0009t0001g0012 a0009c0017t0002g0193	5	322	0.0155	678	c.48 others(689): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGTTGATGGTGGTGGTGGTGGTGATGATGATGATGTTGGTGGTGG TGCTGGTGGTGATGGTGATGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGATGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGGTGGTGGT GGTGGTGGTGGTGATGATGATGGTGGTGATGGTGATGGTGATGGTGGTGG TGATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGG TGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGATGGTGA TGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTGGTGCTGG TGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGATGATG ATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGTGGTGGTGGT GATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGA GATGGTGGTGATGGTGGTGATGGTGATGATGATGGTGGTGGTGATGGTGA GATGGTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGGTGGTGGTGATGA TGGTGATGATGATGGTGTTGATGATGGTGATGATGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATTAT others(671): Show TATATTATATATATATATTATATATTATATTATATATAATTATATATAAT TATATAATTATTTATTATATAATTATATATTATTTATTATATAATTATAT AATTATATATTATTTATTATATAATTATATAATTATATATTATTTATTAT ATATTATATAATTATATAATTATATATTATTTATTATATAATATATAATT ATATATTATTTATTATATAATTATATATTATTTATTATATATATTATTTA TTATATAATTATATATTATGTATTATATAATTATATAATTATATATTATT TATTATATAATTATATATTATGTATTATATAATTATATAATTATATATTA TGTATTATATAATTATATATTATGTATTATATAATTATATAATTATATAT TATGTATTATATAATTATATAATTATATATTATTTATTATATAATTATAT AATTATATATTATTTATTATATAATTATATAATTATATATTATTTATTAT ATAATTATATATTATTTATTACATAAGTATATATTATTTATTACATAAGT ATATATCACTTATTATATAATTGCATATAATTATTTATTATATAATTGCA TATAATTATTTATTATATAATTGTATATAGTTATTTATTATATAATTGTA TATAGTTATTTATTATATAATTCTATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0009 a0002c0024t0009	a0002c0024t0009g0081 a0002c0024t0009g0081	1	106	0.0094	678	c.862 others(695): Show c.862+3417_862+3418insATTATATATATATATTATATATTATATT ATATATAATTATATATAATTATATAATTATTTATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATAATTATATA ATTATATATTATTTATTATATATTATATAATTATATAATTATATATTATT TATTATATAATATATAATTATATATTATTTATTATATAATTATATATTAT TTATTATATATATTATTTATTATATAATTATATATTATGTATTATATAAT TATATAATTATATATTATTTATTATATAATTATATATTATGTATTATATA ATTATATAATTATATATTATGTATTATATAATTATATATTATGTATTATA TAATTATATAATTATATATTATGTATTATATAATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATAATTATATA ATTATATATTATTTATTATATAATTATATATTATTTATTACATAAGTATA TATTATTTATTACATAAGTATATATCACTTATTATATAATTGCATATAAT TATTTATTATATAATTGCATATAATTATTTATTATATAATTGTATATAGT TATTTATTATATAATTGTATATAGTTATTTATTATATAATTCTATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRDM16_chr1_3064203_3443621	3181307	C C	CGGCCTTA others(671): Show CGGCCTTACGCATGGTCTTACACACGCAGTCTTACACACGGTCTTACACA CGCAATCTTACACAAGCAGTCTTACACACGGTCTTACACACACGGTCTTA CACACGCAGTCTTACGGTCTTACACACGGTCTTACACACACGGTCTTACA CACAGTCTTACACACGCAGTCTTACACACGCAGTCTTACACAAGCAGTCT TACACACGCGGTCTTACACAAGCAGTCTTACGGTCTTACACACAGTCTTA CACATGGCCTTACGCATGGTCTTACACACGCAGTCTTACACAAGCGGTCT TACACAAGCGGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTA CACATGCAGTCTTACACACGGTCTTACATATGGTCTTACACATGCAGTCT TACACACGGTCTTACACATGCAGTCTTACACACGGTCTTACACACGGTCT TACACAGTCTTACACGCGCAGTCTTACACACGGTCTTACACACGGTCTTA CACACGCAGTCTTACACACGGTCTTACACACGGAGTCTTACACACAGTCT TACACATGCAGTCTTACACACGGTCTTACACACGCAGTCTTACACGCGGC CTTACACACGCAGTCTTACACGCGGTCTTACACACGCAGTCTTACACGCG GTCTTACGGTCTTACACACGCAGTCTTAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0162 a0001c0001t0030g0162	1	210	0.0048	678	c.38- others(693): Show c.38-4816_38-4815insCCTTACGCATGGTCTTACACACGCAGTCTT ACACACGGTCTTACACACGCAATCTTACACAAGCAGTCTTACACACGGTC TTACACACACGGTCTTACACACGCAGTCTTACGGTCTTACACACGGTCTT ACACACACGGTCTTACACACAGTCTTACACACGCAGTCTTACACACGCAG TCTTACACAAGCAGTCTTACACACGCGGTCTTACACAAGCAGTCTTACGG TCTTACACACAGTCTTACACATGGCCTTACGCATGGTCTTACACACGCAG TCTTACACAAGCGGTCTTACACAAGCGGTCTTACACACGGTCTTACACAC GGTCTTACACAGTCTTACACATGCAGTCTTACACACGGTCTTACATATGG TCTTACACATGCAGTCTTACACACGGTCTTACACATGCAGTCTTACACAC GGTCTTACACACGGTCTTACACAGTCTTACACGCGCAGTCTTACACACGG TCTTACACACGGTCTTACACACGCAGTCTTACACACGGTCTTACACACGG AGTCTTACACACAGTCTTACACATGCAGTCTTACACACGGTCTTACACAC GCAGTCTTACACGCGGCCTTACACACGCAGTCTTACACGCGGTCTTACAC ACGCAGTCTTACACGCGGTCTTACGGTCTTACACACGCAGTCTTATGG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(671): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCC CCTCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCT CCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCCCTCTCTC CCCCTCCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTCT CTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCC TCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCC CTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTC CCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCT TCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCT CTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTC CCCTCCCTCCCTCTCTCCTCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTC CCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCTCC CTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCT TCTCTCTCCCCTCCCCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0024 a0001c0001t0045g0024	1	210	0.0048	678	c.439 others(697): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCTCCC TCTTTCCCCCCTCCCCCTCCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCCCTCTCTCCCCCTCCCCTCTCTCCCCCACCTCCCCCCTCC CTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTC CCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTC CCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCC CTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTT TCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTT CCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCT TTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCTCCTCCCTCTGTCC CGTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCT CTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCCTCTCTCCCCTCCCTCT CT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124271	A A	AGGATCAT others(671): Show AGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGT AGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATC ATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAG GGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTA GGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGATCATGGCTGTAGTTGGGGTCATGGTGGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATC ACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAG GGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAG TTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGATCATGGTG GTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAT GGCTGTAGTTAGGGTCATGGTGGTAGTTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	286	0.0035	678	c.335 others(697): Show c.335-10989_335-10988insATCATGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGG TTAGGTTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCT GTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTGGGGTCAT GGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGG TCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGG GTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTA TAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATG GTGGTAGTTAGGATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGT CATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTG GG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB11FIP3_chr16_420649_528011	492362	T T	TTCCCGGG others(671): Show TTCCCGGGAGACCCGAGGCCGTCCAGAGCCTTCCCGGGAGACCCGAGGCC GTCCAGAGCCTTCCCGGGAGACCCGAGGCCGTCCGTCCAGAGCCCCCCCG GGAGACCCGAGGCCGTCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGT CCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAG ACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCC CTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCC GCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAG ACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCC CTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGC CGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGG AGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGA GCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCCG AGGCCGTCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGAGCCCTT CCCGGGAGACCCGAGGCCGTCCAGAGCCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18522.hp1 HG02965.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0286 a0001c0001t0001g0287	2	295	0.0068	678	c.126 others(697): Show c.1265+3382_1265+3383insTCCAGAGCCTTCCCGGGAGACCCGAG GCCGTCCAGAGCCTTCCCGGGAGACCCGAGGCCGTCCGTCCAGAGCCCCC CCGGGAGACCCGAGGCCGTCCGTCCAGAGCCCTCCCGGGAGACCCGAGGC CGTCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGG GAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGA GCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAG GCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGG GAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGG GCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGA GGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCC GGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCC AGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGAC CCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGAGCC CTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGC CG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(671): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATAATATGTAATACACAATATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAA TATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTA ATACATTATACATTATTATATAAGTATATGTAATACATTATACATTATTA TATAAGTATATGTAATATATATTATACATTATTATATAAGTATATGTAAT ATATATTATACATTATTATATAAGCATATAATATATAATACATAATACAT TATATATAAGCATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03239.hp1 HG03579.hp2 HG03041.hp1 HG03239.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0035 a0001c0001t0002 a0001c0001t0035	a0001c0001t0002g0108 a0001c0001t0002g0182 a0001c0001t0035g0107 a0001c0001t0002g0108 a0001c0001t0002g0182 a0001c0001t0035g0107	3	220	0.0136	678	c.24+ others(695): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATAATATGTAATACACAA TATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAA TATATTATATAATAATATGTAATACATTATACATTATTATATAAGTATAT GTAATACATTATACATTATTATATAAGTATATGTAATATATATTATACAT TATTATATAAGTATATGTAATATATATTATACATTATTATATAAGCATAT AATATATAATACATAATACATTATATATAAGCATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RABL6_chr9_136802948_136846187	136803282	T T	TGGGGCCC others(671): Show TGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0063 a0002c0004t0002g0063	1	330	0.0030	678	c.-49 others(689): Show c.-4915_-4914insGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCG	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4665		chr9	TogoVar
RIN3_chr14_92508781_92693994	92547347	C C	CTTTATTT others(671): Show CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATTATAA AATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAT AAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATT ATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATT TTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTA TCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATTATC TTTATTTTATTATAAAATTATCTTTATTTTATTATAAAATTATCTTTATT TTATTATTATAAAATAAATTATCTTTATTATTATAAAATAAATTATCTTT ATTTTATTATTATAATAAATTATCTTTAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0005 a0005	a0005c0054 a0005c0054	a0005c0054t0001 a0005c0054t0001	a0005c0054t0001g0202 a0005c0054t0001g0202	1	334	0.0030	678	c.45- others(693): Show c.45-8398_45-8397insTTATTATTATAAAATAAATTATCTTTATTT TATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATTA TAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATC TTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTA TCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATA AATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATT ATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTA TTATAAAATTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAA AATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTATTATAAA ATAAATTATCTTTATTTTATTATTATAATAAATTATCTTTATTTTATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RND2_chr17_43020231_43037041	43024257	A A	AATCTCGG others(671): Show AATCTCGGCTCACTGCCACCTCCACCTCCCGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACGCGCCACCACGCCCGG CTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCCCCATGTTGGCCAGGC TGGTCTCAAACTCCTGACCTCAGATATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAAAAAAAGCACTTT TAAAAGGTAAAAGATGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGAAGGCCGAGGCGGGTGGATACCTGAGGTCAGGAGTTTGAGACC AACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTA GCTGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGGTTGAACCCGGGAGGCGGAGGTTGCAGTGCGCTGAGAT CGCGCCACTGCACTCCAGCCTGCCCGACAGAGCGAGACTCCGCCTCAAAA AAAAAAAAAAAAAAAAAAGGTAAAAGATGCCATGCAAATACGTATCAGTG GTTTGATTATTGCTAGACTTTTTTTTTTTTTTTGAGACGGAGTATTGCTC TATCGCCCAGGCTGAAGTGCAGTGGCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00558.hp1 others(73): Show HG00280.hp2 HG00438.hp2 HG00558.hp1 HG00639.hp1 HG01069.hp1 HG01070.hp1 HG01099.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01496.hp2 HG01517.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02155.hp1 HG02258.hp1 HG02300.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp1 NA18522.hp1 NA18906.hp2 NA18947.hp2 NA18951.hp1 NA18955.hp1 NA18960.hp1 NA18969.hp2 NA18971.hp2 NA18983.hp2 NA18992.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19063.hp2 NA19064.hp1 NA19079.hp1 NA19086.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0024 a0003c0003t0002	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 others(17): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0003g0008 a0001c0001t0004g0003 a0001c0001t0005g0002 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0009 a0001c0001t0008g0002 a0001c0001t0012g0003 a0001c0001t0012g0004 a0001c0001t0024g0009 a0003c0003t0002g0009	76	322	0.2360	678	c.-10 others(689): Show c.-1091_-1090insATCTCGGCTCACTGCCACCTCCACCTCCCGGGTT CAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACG CGCCACCACGCCCGGCTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCC CCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGATATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGC CAAAAAAAGCACTTTTAAAAGGTAAAAGATGGCCGGGCACGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCGGGTGGATACCTGAGGT CAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTA AAAATACAAAAATTAGCTGGGCATGGTGGCGCACGTCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCGGGAGGCGGAGGTT GCAGTGCGCTGAGATCGCGCCACTGCACTCCAGCCTGCCCGACAGAGCGA GACTCCGCCTCAAAAAAAAAAAAAAAAAAAAAAGGTAAAAGATGCCATGC AAATACGTATCAGTGGTTTGATTATTGCTAGACTTTTTTTTTTTTTTTGA GACGGAGTATTGCTCTATCGCCCAGGCTGAAGTGCAGTGGCACG	RND2	ENSG00000108830.11	transcript	ENST00000587250.4	protein_coding		973		chr17	TogoVar
RND2_chr17_43020231_43037041	43024257	A A	AATCTCGG others(671): Show AATCTCGGCTCACTGCCACCTCCACCTCCCGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACGCGCCACCACGCCCGG CTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCCCCATGTTGGCCAGGC TGGTCTCAAACTCCTGACCTCAGATATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAAAAAAAGCACTTT TAAAAGGTAAAAGATGGCCGGGGGCACGGTGGCTCACGCCTGTAATCCCA GCACTTTGGAAGGCCGAGGCGGGTGGATACCTGAGGTCAGGAGTTTGAGA CCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAT TAGCTGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATCGGTTGAACCCGGGAGGCGGAGGTTGCAGTGCGCTGAG ATCGCGCCACTGCACTCCAGCCTGCCCGACAGAGCGAGACTCCGCCTCAA AAAAAAAAAAAAAAAAAAGGTAAAAGATGCCATGCAAATACGTATCAGTG GTTTGATTATTGCTAGACTTTTTTTTTTTTTTTGAGACGGAGTATTGCTC TATCGCCCAGGCTGAAGTGCAGTGGCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0004 a0001c0001t0015g0004	1	322	0.0031	678	c.-10 others(689): Show c.-1091_-1090insATCTCGGCTCACTGCCACCTCCACCTCCCGGGTT CAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACG CGCCACCACGCCCGGCTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCC CCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGATATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGC CAAAAAAAGCACTTTTAAAAGGTAAAAGATGGCCGGGGGCACGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCGGGTGGATACCTGAG GTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACGTCTGTAATCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCGGGAGGCGGAGG TTGCAGTGCGCTGAGATCGCGCCACTGCACTCCAGCCTGCCCGACAGAGC GAGACTCCGCCTCAAAAAAAAAAAAAAAAAAAAGGTAAAAGATGCCATGC AAATACGTATCAGTGGTTTGATTATTGCTAGACTTTTTTTTTTTTTTTGA GACGGAGTATTGCTCTATCGCCCAGGCTGAAGTGCAGTGGCACG	RND2	ENSG00000108830.11	transcript	ENST00000587250.4	protein_coding		973		chr17	TogoVar
RND2_chr17_43020231_43037041	43024257	A A	AATCTCGG others(671): Show AATCTCGGCTCACTGCCACCTCCACCTCCCGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACGCGCCACCACGCCCGG CTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCCCCATGTTGGCCAGGC TGGTCTCAAACTCCTGACCTCAGATATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTATAGGCGTGAGCCACCGTGCCTGGCCAAAAAAAGCACTTT TAAAAGGTAAAAGATGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGAAGGCCGAGGCGGGTGGATACCTGAGGTCAGGAGTTTGAGACC AACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTA GCTGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGGTTGAACCCGGGAGGCGGAGGTTGCAGTGCGCTGAGAT CGCGCCACTGCACTCCAGCCTGCCCGACAGAGCGAGACTCCGCCTCAAAA AAAAAAAAAAAAAAAAAAGGTAAAAGATGCCATGCAAATACGTATCAGTG GTTTGATTATTGCTAGACTTTTTTTTTTTTTTTGAGACGGAGTATTGCTC TATCGCCCAGGCTGAAGTGCAGTGGCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0003 a0001c0004t0008g0003	1	322	0.0031	678	c.-10 others(689): Show c.-1091_-1090insATCTCGGCTCACTGCCACCTCCACCTCCCGGGTT CAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACG CGCCACCACGCCCGGCTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCC CCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGATATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCTGGC CAAAAAAAGCACTTTTAAAAGGTAAAAGATGGCCGGGCACGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCGGGTGGATACCTGAGGT CAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTA AAAATACAAAAATTAGCTGGGCATGGTGGCGCACGTCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCGGGAGGCGGAGGTT GCAGTGCGCTGAGATCGCGCCACTGCACTCCAGCCTGCCCGACAGAGCGA GACTCCGCCTCAAAAAAAAAAAAAAAAAAAAAAGGTAAAAGATGCCATGC AAATACGTATCAGTGGTTTGATTATTGCTAGACTTTTTTTTTTTTTTTGA GACGGAGTATTGCTCTATCGCCCAGGCTGAAGTGCAGTGGCACG	RND2	ENSG00000108830.11	transcript	ENST00000587250.4	protein_coding		973		chr17	TogoVar
RND2_chr17_43020231_43037041	43024257	A A	AATCTCGG others(671): Show AATCTCGGCTCACTGCCACCTCCACCTCCCGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACGCGCCACCACGCCCGG CTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCCCCATGTTGGCCAGGC TGGTCTCAAACTCCTGACCTCAGATATCCACCTGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAAAAAAAGCACTTT TAAAAGGTAAAAGATGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGAAGGCCGAGGCGGGTGGATACCTGAGGTCAGGAGTTTGAGACC AACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTA GCTGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGGTTGAACCCGGGAGGCGGAGGTTGCAGTGCGCTGAGAT CGCGCCACTGCACTCCAGCCTGCCCGACAGAGCGAGACTCCGCCTCAAAA AAAAAAAAAAAAAAAAAAGGTAAAAGATGCCATGCAAATACGTATCAGTG GTTTGATTATTGCTAGACTTTTTTTTTTTTTTTGAGACGGAGTATTGCTC TATCGCCCAGGCTGAAGTGCAGTGGCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	322	0.0031	678	c.-10 others(689): Show c.-1091_-1090insATCTCGGCTCACTGCCACCTCCACCTCCCGGGTT CAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACG CGCCACCACGCCCGGCTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCC CCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGATATCCACCTGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGC CAAAAAAAGCACTTTTAAAAGGTAAAAGATGGCCGGGCACGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCGGGTGGATACCTGAGGT CAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTA AAAATACAAAAATTAGCTGGGCATGGTGGCGCACGTCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCGGGAGGCGGAGGTT GCAGTGCGCTGAGATCGCGCCACTGCACTCCAGCCTGCCCGACAGAGCGA GACTCCGCCTCAAAAAAAAAAAAAAAAAAAAAAGGTAAAAGATGCCATGC AAATACGTATCAGTGGTTTGATTATTGCTAGACTTTTTTTTTTTTTTTGA GACGGAGTATTGCTCTATCGCCCAGGCTGAAGTGCAGTGGCACG	RND2	ENSG00000108830.11	transcript	ENST00000587250.4	protein_coding		973		chr17	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(671): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATATTCCATATATATATATATTCCATAT ATATATATATATTCCATATATATATATTCCATATATATATATATTCCATA TATATATATTCCATATATATATATATTCCATATATATATATTCCATATAT ATATATATTCCATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATGTATATTCCATATATATATATTCCATATATATA TTCCATATATATATATATTCCATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATATTCCATATATATATATTCCATATA TATATATTCCATATATATATATTCCATATATATATATTCCATATATATAT ATTCCATATATATATATTCCATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	324	0.0031	678	c.115 others(695): Show c.115-2552_115-2551insTATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATGGAATATATATATATATGGA ATATATATATGGAATATATATATATGGAATATACATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATGGAATATATA TATATATGGAATATATATATATGGAATATATATATATATGGAATATATAT ATATGGAATATATATATATATGGAATATATATATATGGAATATATATATA TATATGGAATATATATATATATGGAATATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATGGAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(671): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TTCCATATATATATATATATTCCATATATATATATATTCCATATATATAT ATATATTCCATATATATATATTCCATATATATATATATTCCATATATATA TATTCCATATATATATATATTCCATATATATATATTCCATATATATATAT ATTCCATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATTCCATATATATATATTCCATATATATATATATTCC ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATATATTCCATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATATTCCATATATATATATTCCATATATATATATTCCA TATATATATATTCCATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0134 a0001c0011t0001g0134	1	324	0.0031	678	c.115 others(695): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TGGAATATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATGGAA TATATATATATATGGAATATATATATATGGAATATATATATATATGGAAT ATATATATATGGAATATATATATATATGGAATATATATATATGGAATATA TATATATATATGGAATATATATATATATGGAATATATATATATATATGGA ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(671): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCTCCC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTTCCCC CTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCC TCCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCC CATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTC CCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCT CCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	150	0.0067	678	c.77- others(695): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCACCCCT TCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCCTC others(671): Show CCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCC TTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCTCACCCCTCCCC CCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCCCCCCATCCCCTCCCCTCCCCCCCCTCCCCACCCCCTCCCCTCC CCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCC CCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	158	0.0063	678	c.22+ others(695): Show c.22+36326_22+36327insCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCTTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCTCACCCCTCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCC CTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCCTCCCCCCCCCATCCCCTCCCCTCCCCCCCCTC CCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCC TTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCT CCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(671): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCTCCC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTTCCCC CTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCC TCCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCC CATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTC CCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCT CCCTTCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	158	0.0063	678	c.22+ others(695): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCACCCCT TCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SESN1_chr6_108979309_109099846	109047041	T T	TGGGGGGG others(671): Show TGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGT GGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCTGG CCAGCCACCCTGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCAGCCTGGCCAGCCACCCCGTCCGGGAGGGA GATGGGGGGGTCAGCCCCCCAACCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCGGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	184	0.0054	678	c.280 others(697): Show c.280-44699_280-44698insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACCGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTTGGGGGGCTGACCCCCCC ATCTCCCTCCCGGACGGGGTGGCTGGCCAGGCTGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACAGGGTGGC TGGCCAGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCC CCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCAGATGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCC CC	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SESN1_chr6_108979309_109099846	109047041	T T	TGGGGGGT others(671): Show TGGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGTGCCATCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGT GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCTGG CCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCAGCCTGGCCAGCCACCCCGTCCGGGAGGGA GATGGGGGGGTCAGCCCCCCAACCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCGGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	184	0.0054	678	c.280 others(697): Show c.280-44699_280-44698insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACCGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTTGGGGGGCTGACCCCCCC ATCTCCCTCCCGGACGGGGTGGCTGGCCAGGCTGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGC TGGCCAGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCAGATGGCACGGCTGGCCGGGCGGGGGGGGCTGACCCC CC	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SESN1_chr6_108979309_109099846	109047041	T T	TGGGGGGT others(671): Show TGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGTG GGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCTGGC CAGCCACCCTGTCCGGGAGGGAGATGGGGGGGGTCAGCCCCCCCACCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCAGCCTGGCCAGCCACCCCGTCCGGGAGGGA GATGGGGGGGTCAGCCCCCCAACCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCGGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	184	0.0054	678	c.280 others(697): Show c.280-44699_280-44698insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACCGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTTGGGGGGCTGACCCCCCC ATCTCCCTCCCGGACGGGGTGGCTGGCCAGGCTGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGTGGGGGGGCTGACCCCCCCCATCTCCCTCCCGGACAGGGTGG CTGGCCAGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACC CCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCAGATGGCACGGCTGGCCGGGCGGGGGGGCTGACCCC CC	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SESN1_chr6_108979309_109099846	109047041	T T	TGGGGGGT others(671): Show TGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGTG GGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCTGGC CAGCCACCCTGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCAGCCTGGCCAGCCACCCCGTCCGGGAGGGAG ATGGGGGGGTCAGCCCCCCAACCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCGGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp2 NA19076.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0094 a0001c0001t0001g0060 a0001c0001t0001g0094	2	184	0.0109	678	c.280 others(697): Show c.280-44699_280-44698insCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACCGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTTGGGGGGCTGACCCCCC CATCTCCCTCCCGGACGGGGTGGCTGGCCAGGCTGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACAGGGTGG CTGGCCAGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACC CCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCAGATGGCACGGCTGGCCGGGCGGGGGGGCTGACCCC CC	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SESN1_chr6_108979309_109099846	109047041	T T	TGGGGGGT others(671): Show TGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGTG GGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCTGGC CAGCCACCCTGTCCGGGAGGGAGATGGGGGGGGTCAGCCCCCCCACCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCAGCCTGGCCAGCCACCCCGTCCGGGAGGGA GATGGGGGGGTCAGCCCCCCAACCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCGGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	184	0.0054	678	c.280 others(697): Show c.280-44699_280-44698insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACCGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTTGGGGGGCTGACCCCCCC ATCTCCCTCCCGGACGGGGTGGCTGGCCAGGCTGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGTGGGGGGGCTGACCCCCCCCATCTCCCTCCCGGACAGGGTGG CTGGCCAGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACC CCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCAGATGGCACGGCTGGCCGGGCGGGGGGGCTGACCCC CC	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SESN1_chr6_108979309_109099846	109047041	T T	TGGGGGGT others(671): Show TGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGTG GGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCTGGC CAGCCACCCTGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCTGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCAGCCTGGCCAGCCACCCCGTCCGGGAGGGAG ATGGGGGGGTCAGCCCCCCAACCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCGGTCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	184	0.0054	678	c.280 others(697): Show c.280-44699_280-44698insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACCGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTTGGGGGGCTGACCCCCC CATCTCCCTCCCGGACGGGGTGGCTGGCCAGGCTGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCAGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACAGGGTGG CTGGCCAGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACC CCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCAGATGGCACGGCTGGCCGGGCGGGGGGGCTGACCCC CC	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SESN1_chr6_108979309_109099846	109047041	T T	TGGGGGGT others(671): Show TGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGTG GGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCTGGC CAGCCACCCTGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCCACCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCAGCCTGGCCAGCCACCCCGTCCGGGAGGGA GATGGGGGGGTCAGCCCCCCAACCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCGGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0009 a0001c0005t0001g0009	1	184	0.0054	678	c.280 others(697): Show c.280-44699_280-44698insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACCGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTTGGGGGGCTGACCCCCCC ATCTCCCTCCCGGACGGGGTGGCTGGCCAGGCTGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGTGGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACAGGGTGG CTGGCCAGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACC CCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCAGATGGCACGGCTGGCCGGGCGGGGGGGCTGACCCC CC	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SESN1_chr6_108979309_109099846	109047042	G G	GGGGGGTC others(671): Show GGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCTGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGTGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCTGGCC AGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCAGCCTGGCCAGCCACCCCGTCCGGGAGGGAGA TGGGGGGGTCAGCCCCCCAACCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCGGTCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02886.hp1 HG02451.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0020 a0001c0004t0005g0021 a0001c0004t0005g0020 a0001c0004t0005g0021	2	184	0.0109	678	c.280 others(697): Show c.280-44700_280-44699insTCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACCGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTTGGGGGGCTGACCCCC CCATCTCCCTCCCGGACGGGGTGGCTGGCCAGGCTGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTG GCTGGCCAGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCAGATGGCACGGCTGGCCGGGCGGGGGGGCTGACCC CC	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SLC12A7_chr5_1045384_1117063	1098264	C C	CGCCCAGG others(671): Show CGCCCAGGCCCCCACAACCCTCTGCAAGCCCAGCCCCCCTCTAACCCTCT GCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCTTCTAACC CTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCCTC TAACCCTCTGCACACCCAGCCCCCTTCTAACCCTCTGCTCACCCAGCCCC CTTCTAACCCTCTGCACACCCAGGCCCCCCTCTAACCCTCTGCACACCCA GCCCCCCTCTAACCCTCTGCTCACCAAGCCCCCTTCTAACCCTCTGCACA CCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTG CTCACCCAGCCCCCTTCTAACCCTCTGCACACCCAGGCCCCCCTCTAACC CTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCAAGCCCCCTTCT AACCCTCTGCACACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCC CCTCTAACCCTCTGCTCACCAAGCCCCCTTCTAACCCTCTGCACACCCAG CCCCCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGC CCAGGCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGC TCACCAAGCCCCCCTCTAACCCTCTGCAT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03195.hp1 HG02273.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0016 a0001c0009 a0002c0016	a0001c0009t0010 a0002c0016t0010 a0001c0009t0010 a0002c0016t0010	a0001c0009t0010g0081 a0002c0016t0010g0082 a0001c0009t0010g0081 a0002c0016t0010g0082	2	118	0.0170	678	c.125 others(695): Show c.125-4017_125-4016insATGCAGAGGGTTAGAGGGGGGCTTGGTG AGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGCCTG GGCATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGG GCTGGGTGTGCAGAGGGTTAGAAGGGGGCTTGGTGAGCAGAGGGTTAGAG GGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGT TAGAAGGGGGCTTGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGA GGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAGAAGGGGGCTGGGTGA GCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGG GTGTGCAGAGGGTTAGAAGGGGGCTTGGTGAGCAGAGGGTTAGAGGGGGG CTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAGAA GGGGGCTGGGTGAGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTT AGAGGGGGGCCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGA GGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAG CAGAGGGTTAGAGGGGGGCTGGGCTTGCAGAGGGTTGTGGGGGCCTGGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098290	A A	AGCCCAGC others(671): Show AGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTC TGCACACCCAGCCCCCTTCTAACCCTCTGCTCACCCAGCCCCCTTCTAAC CCTCTGCATGCCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCTT CTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCACACCCAGGCC CCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCA AGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTC ACCCAGCCCCCTTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCT GCACACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAAC CCTCTGCTCACCAAGCCCCCTTCTAACCCTCTGCACACCCAGGCCCCCCT CTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCAAGCCC CCTTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCA GCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTCTAACCCTCTGCACG CCCAGCCCCCCTCTAACCCTCTGCTCACCAAGCCCCCCTCTAACCCTCTG CATGCCCAGGCCCCCACAACCCTCTGCAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0080 a0002c0008t0004g0080	1	118	0.0085	678	c.125 others(695): Show c.125-4043_125-4042insGTGCAGAGGGTTGTGGGGGCCTGGGCAT GCAGAGGGTTAGAGGGGGGCTTGGTGAGCAGAGGGTTAGAGGGGGGCTGG GCGTGCAGAGGGTTAGAGGGGGCCTGGGCATGCAGAGGGTTAGAAGGGGG CTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAAG GGGGCTTGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTA GAGGGGGGCCTGGGTGTGCAGAGGGTTAGAAGGGGGCTTGGTGAGCAGAG GGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTG CAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAAGGGGGCTGGG TGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGC TTGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGG GGGCCTGGGTGTGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTA GAAGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGCATGCAGAG GGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAAGGGGGCTGGGTGTGC AGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(671): Show AGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAGGGT GGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAG GGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGAA GGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAGG GGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGTGGAGGGGAGG GGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGAGG GAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGA GGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGG GGGGAAGGGGAAGGGGGAGGAAGGAGGGGGAGGGGAGGGGAAGGGGGAGG AGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGG AAGGGGGGAAGGGTAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGG GAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGGGGGGA AGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGAGAGGGGAGAGG AGGGGGAGGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	678	c.12 others(689): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCCTCCCCCTCCTCT CCCCTCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCC CCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCT TCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTACCCTTCCCCCCTTCCCCT CCCCTCCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCC CCCTTCCCCTCCCCTCCCCCTCCTTCCTCCCCCTTCCCCTTCCCCCCTTC CCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCC TCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCC TCCCCTCCCCCTCCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCC CCTCCACTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTC CCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCC CTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCAC CTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCT CCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(671): Show AGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAGGGT GGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAG GGCAGAGGAGGGGAGAGGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGA AGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAG GGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGTGGAGGGGAG GGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGAG GGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGG AGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGGGAAGGGGAAGGGGGAGGAAGGAGGGGGAGGGGAGGGGAAGGGGGAG GAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGG GAAGGGGGGAAGGGTAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGG GGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGGGGGG AAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGAGAGGGGAGAG GAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	678	c.12 others(689): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCC CCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTT CCCCTCCCCTCCCCCTCCCTCCTCCCCCTTACCCTTCCCCCCTTCCCCTC CCCTCCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCC CCTTCCCCTCCCCTCCCCCTCCTTCCTCCCCCTTCCCCTTCCCCCCTTCC CCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCT CCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCT CCCCTCCCCCTCCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCC CTCCACTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTCC CCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCC TCCTCTGCCCTCCCCTCCCTCCTCCCCCCTCTCCCCTCCTCTGCCCTCAC CTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCT CCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SPAAR_chr9_35904490_35916686	35914229	G G	GGTGAGTG others(671): Show GGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTATTTTTTTATGCTGTAGTGTGTGTGTAAGCTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCT GTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCT GTGGTGTGTGTGTAAGTTGTATGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02976.hp1 HG03942.hp1 HG01243.hp2 HG02976.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0011	3	420	0.0071	678	c.35 others(689): Show c.3538_*3539insGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTATTTTTTTATGCTGTAGTGTGTGT GTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTG GTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTG TGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTT GCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTT GTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGT TTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGT GTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2544		chr9	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(671): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGG GAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGA GAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGA GAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGA GCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGC GGGGTGGGAGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGAGAACGG GGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTG GGAGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	364	0.0028	678	c.157 others(697): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCTCCCACCCCGCTCCCACCCCGCTCCCACCCCGTTCTCCCAC CCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCC CGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCG CTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCGTTCCCCCACCCCGCT CTCTCCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCC CTCCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCA CCCCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCCACCCCCTCCCACCC CCACCCCGTTCTCCCACCCCTCCCACCCTGCTCTCCCACCCCGCTCTCCC ACCCCGTTCTCCCACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCC ACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGC TCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACC CC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TAFA5_chr22_48484553_48756932	48641037	C C	CCTGAAGC others(671): Show CCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGA ACAGTGGGGGGCTGTTGGTGGGGTCTGCCCTACGGGACAGCTTCTGTCTG AAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAG TGGGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAACTTCTGTCTGAAG CTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGG GGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTG AGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGG GCTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTGAGA CCGTGGGGGCACCGTGGCCCTTGTTGGGGCAATGAGAACAGTGGGGGGCT GTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTGAGACCG TGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTT GGTGGGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTGAGACCGTGG GGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGT GGGGGTCTGCCCTATGGGACAGCTTCTGT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0143 a0001c0001t0005g0143	1	258	0.0039	678	c.113 others(695): Show c.113-5488_113-5487insTCTGCCCTACGGGACAGCTTCTGTCTGA AGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGT GGGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAACTTCTGTCTGAAGC TGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGG GGGCTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTGA GACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGG CTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTGAGAC CGTGGGGGCACCGTGGCCCTTGTTGGGGCAATGAGAACAGTGGGGGGCTG TTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTGAGACCGT GGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTG GTGGGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTGAGACCGTGGG GGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTG GGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGGGGC ACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1273782	C C	CACGACCG others(671): Show CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG ACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCAT CCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATC AGACCCCACGACTGCCATCCACAGTCACCACACATCAGACCCCTGTGACC GATCACCATCCACAGTCACCACACATCAGACCCCACGACTGCCATCCACA GTCACCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGT GACCGATCACCATCCACAGTCACCACACA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02129.hp1 NA19011.hp1 others(1): Show HG02083.hp2 HG02129.hp1 NA19011.hp1 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0097 others(1): Show a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0097 a0001c0002t0001g0099	4	392	0.0102	678	c.228 others(697): Show c.2287-1503_2287-1502insTGTGTGGTGACTGTGGATGGTGATCG GTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGT GACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTG ATCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTC GT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TLL2_chr10_96359608_96518926	96415748	T T	TCTCTCTC others(671): Show TCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTC TCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTC TGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTC TGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTC TCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTC TCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTC TCTCTGTCCTCTCTCTCTCTGTCTCTTTCTCTCTCTGTCTCTCTCTCTCT CTCTGTCTCTCTCTCTCTCTTCTCTGTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCGTCTCTCTCTGTCTCTTT CTCTCTCTCTCTCTCTGGCTCTTTCTCTCTCTCTCTCTCTCTCTCTTCAT CTTTCTCTCTCTCTCCTCTCTGTCTCTCTTTCTCTCTCTCTCTCTGTCTC TGTCTCTCTCTCTCTCTCTCTGCTCTCTCTCTCTGTCTCTCTCTCTCTCT GTCTCACTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT CTGTCTCTCTCTCTGTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	256	0.0039	678	c.924 others(695): Show c.924-2433_924-2432insGAGAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGTGAGA CAGAGAGAGAGAGAGACAGAGAGAGAGAGCAGAGAGAGAGAGAGAGAGAC AGAGACAGAGAGAGAGAGAGAAAGAGAGACAGAGAGGAGAGAGAGAGAAA GATGAAGAGAGAGAGAGAGAGAGAGAGAAAGAGCCAGAGAGAGAGAGAGA GAAAGAGACAGAGAGAGACGAGAGAGAAAGAGACAGAGAGAGACAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGACAGAGAAGAGAGAGAGAGAGACAGA GAGAGAGAGAGAGACAGAGAGAGAAAGAGACAGAGAGAGAGAGGACAGAG AGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAG AGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAG AGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGAC AGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAC AGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAG AGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAG	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMEM132D_chr12_129066726_129909025	129087890	G G	GGGATGTC others(671): Show GGGATGTCCTCCCTGACCGGGGTGTCCTCTATGACCGGGATGTCCTCCAT GACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCC CTGACCGGGGTGTCCTCTATGACCGGGTGTCCTCCATGACCGGGCGTCCT CCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGT CCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCTATGACCGGGT GTCCTCCATGACCGGACGTCCTCCATGACCGGGCGTCCTCCATGACCGGG ATGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACC GGGCGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCATGA CCGGGGTGTCCTCCATGACCGGGTGTCCTCTATGACCGGGTGTCCTCTAT GACCGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACCGGGTGTCCTCC ATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACCGGGGTGTCC TCCATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGTGTC CTCTATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGTG TCCTCCCTGACCGGGTGTCCTCTATGACC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0079 a0008c0009t0002g0079	1	94	0.0106	678	c.144 others(697): Show c.1444-3189_1444-3188insGGTCATAGAGGACACCCGGTCAGGGA GGACACCCGGTCATGGAGGACACCCGGTCATGGAGGACACCCCGGTCATA GAGGACACCCGGTCATGGAGGACACCCGGTCATGGAGGACACCCGGTCAT GGAGGACACCCCGGTCATAGAGGACACCCCGGTCATGGAGGACACCCGGT CATGGAGGACACCCGGTCATAGAGGACACCCCGGTCATGGAGGACACCCG GTCATAGAGGACACCCGGTCATAGAGGACACCCGGTCATGGAGGACACCC CGGTCATGGAGGACACCCGGTCATGGAGGACACCCCGGTCATGGAGGACG CCCGGTCATGGAGGACACCCCGGTCATGGAGGACACCCGGTCATGGAGGA CATCCCGGTCATGGAGGACGCCCGGTCATGGAGGACGTCCGGTCATGGAG GACACCCGGTCATAGAGGACACCCGGTCATGGAGGACACCCCGGTCATGG AGGACACCCCGGTCATGGAGGACACCCGGTCATGGAGGACATCCCGGTCA TGGAGGACGCCCGGTCATGGAGGACACCCGGTCATAGAGGACACCCCGGT CAGGGAGGACACCCGGTCATGGAGGACACCCCGGTCATGGAGGACACCCG GTCATGGAGGACATCCCGGTCATAGAGGACACCCCGGTCAGGGAGGACAT CC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129087890	G G	GGGATGTC others(671): Show GGGATGTCCTCCCTGACCGGGGTGTCCTCTATGACCGGGATGTCCTCCAT GACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCC CTGACCGGGGTGTCCTCTATGACCGGGTGTCCTCCATGACCGGGCGTCCT CCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGT CCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCTATGACCGGGT GTCCTCCATGACCGGACGTCCTCCATGACCGGGCGTCCTCCATGACCGGG ATGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACC GGGCGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCATGA CCGGGGTGTCCTCCATGACCGGGTGTCCTCTATGACCGGGTGTCCTCTAT GACCGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACCGGGTGTCCTCC ATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACCGGGGTGTCC TCCATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGTGTC CTCTATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGTG TCCTCCCTGACCGGGTGTCCTCTATGACC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0054 a0002c0003t0001g0054	1	94	0.0106	678	c.144 others(697): Show c.1444-3189_1444-3188insGGTCATAGAGGACACCCGGTCAGGGA GGACACCCGGTCATGGAGGACACCCGGTCATGGAGGACACCCCGGTCATA GAGGACACCCGGTCAGGGAGGACACCCGGTCATGGAGGACACCCGGTCAT GGAGGACACCCCGGTCATAGAGGACACCCCGGTCATGGAGGACACCCGGT CATGGAGGACACCCGGTCATAGAGGACACCCCGGTCATGGAGGACACCCG GTCATAGAGGACACCCGGTCATAGAGGACACCCGGTCATGGAGGACACCC CGGTCATGGAGGACACCCGGTCATGGAGGACACCCCGGTCATGGAGGACG CCCGGTCATGGAGGACACCCCGGTCATGGAGGACACCCGGTCATGGAGGA CATCCCGGTCATGGAGGACGCCCGGTCATGGAGGACGTCCGGTCATGGAG GACACCCGGTCATAGAGGACACCCGGTCATGGAGGACACCCCGGTCATGG AGGACACCCCGGTCATGGAGGACACCCGGTCATGGAGGACATCCCGGTCA TGGAGGACGCCCGGTCATGGAGGACACCCGGTCATAGAGGACACCCCGGT CAGGGAGGACACCCGGTCATGGAGGACACCCCGGTCATGGAGGACACCCG GTCATGGAGGACATCCCGGTCATAGAGGACACCCCGGTCAGGGAGGACAT CC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar

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Search Results (Total: 10000 hits)