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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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
CHTF18_chr16_783620_803074	795584	G G	GCCCCCCC others(712): Show GCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCC CCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCA AACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCAC ACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCC GCCCCGCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0050 a0003c0003t0001g0050	1	428	0.0023	719	c.217 others(734): Show c.2176-95_2176-94insCAAACACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTT CTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCC CCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCC CCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAA CACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795584	G G	GCCCCCCC others(712): Show GCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCC CCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCA AACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAAC CACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACAC TGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCC GCCCCGCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0051 a0003c0003t0001g0051	1	428	0.0023	719	c.217 others(734): Show c.2176-95_2176-94insCAAACACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCT TCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCC CCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCC CCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAA CACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795584	G G	GCCCCCCC others(712): Show GCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCC CCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCA AACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAAC CACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACAC TGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCC CGCCCCGCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0068 a0003c0003t0001g0068	1	428	0.0023	719	c.217 others(734): Show c.2176-95_2176-94insCAAACACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCT TCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCC CCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCC CCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAA CACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL18A1_chr21_45400165_45518720	45500917	T T	TGTGTGTG others(712): Show TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGT GTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTG TGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGGTGTG TAGTGTGGGGGTGTGGTTTG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0006 a0006	a0006c0028 a0006c0028	a0006c0028t0003 a0006c0028t0003	a0006c0028t0003g0230 a0006c0028t0003g0230	1	292	0.0034	719	c.268 others(738): Show c.2684-3048_2684-3047insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG TGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTG TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG GTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGG GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATATATA others(712): Show AATATATATGTAAATATATAAATATATATAAATATATATGTAAATATATA AATATATATAAATAAATATATATAAATATATATAAATATAAATATATATA TAAATATGTAATTCTAAATATATATGTAAATATATATAAATATAAATATA TTTATAAATATATAAATATATATATATTTATAAATATATAAATATATATA TATTTATAAATATATAAATATATATATATTTATAAATATATAAATATATA TAAAAATATATATAAATATATAAAAAATATAAATATATATAAATATATAA ATATATGTAAATATATATAAATATATATATAAATATATATATAAATATAT ATATAAATATATATATAAATATATATATATAAATATATATAAATATATAA CTATATAAATAAATATATATAAATATATAAATATATAAAAATATATATAA ATATATATGTAAATATATAAATATATATAAATATATATAAATATATATAA GTATATAAATATATATAAATATATATAAGTATATAAATATATATATAAAT ATATATAAGTATATAAATATATATATAAATATATATAAGTATATAAATAT ATATAAATATATATAAGTATATAAATATATATATAAATATATATAAGTAT ATATAAATATATATAAATATATATAAGTATATATAAATATATAAAAATAT ATATAAGTATATATAAATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	264	0.0038	719	c.181 others(738): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATTTACATATATTTATAT ATTTATATATATTTATATTTTTTATATATTTATATATATTTTTATATATA TTTATATATTTATAAATATATATATATTTATATATTTATAAATATATATA TATTTATATATTTATAAATATATATATATTTATATATTTATAAATATATT TATATTTATATATATTTACATATATATTTAGAATTACATATTTATATATA TATTTATATTTATATATATTTATATATATTTATTTATATATATTTATATA TTTACATATATATTTATATATATTTATATATTTACATATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
DNAJC25_chr9_111626334_111659345	111641805	T T	TGGGGGGG others(712): Show TGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCT GCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGT CAGCCCCCCTGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02615.hp1 HG02965.hp2 others(2): Show HG01255.hp1 HG02615.hp1 HG02965.hp2 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0150 a0001c0001t0004g0151 others(1): Show a0001c0001t0004g0045 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0152	5	412	0.0121	719	c.337 others(736): Show c.337-5294_337-5293insGTCAGCCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG TTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GGTCAGCCCCCCTGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGTTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCACCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
FLT3_chr13_27998274_28105576	27998945	T T	TTATATGC others(712): Show TTATATGCATATACATATATATTTATATGCATATAAATATATATGTATAT ACATATAAATATATATGTATATACATATAAATATATGTATATACATATAA ATATATATGTATATACATATAAATATATATGTATATACATATATATATGT ATATACATATATATATATGTATATACATATATATATGTATATACATATAT ATATATGTATATACATATAAATATATATGTATATACATATAAATATATAT GTATATACATATAAATATATATGTATATACATATAAATATATATGTATAT ACATATAAATATATATGTATGTATATTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATTTATATACATA TAAATATATATTTACATACATATAAATATATATTTACATACATATAAATA TATACATTTATATACATATAAATATATACATATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATATATTTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATATA AATATATATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	292	0.0034	719	c.51 others(730): Show c.5106_*5107insTATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATATA AATATATATAAATATATATATTTATATGTATATAAATATATATTTATATG TATATATGTATATATTTATATGTATATAAATGTATATATTTATATGTATG TAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAATATACATACATATATATTTATATGTATATACATATATAT TTATATGTATATACATATATATTTATATGTATATACATATATATTTATAT GTATATACATATATATTTATATGTATATACATATATATATATGTATATAC ATATATATATGTATATACATATATATATATGTATATACATATATATATGT ATATACATATATATTTATATGTATATACATATATATTTATATGTATATAC ATATATTTATATGTATATACATATATATTTATATGTATATACATATATAT TTATATGCATATAAATATATATGTATATGCATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4328		chr13	TogoVar
FLT3_chr13_27998274_28105576	27998945	T T	TTATATGC others(712): Show TTATATGCATATACATATATATTTATATGCATATAAATATATATTTATAT GCATATAAATATATATGTATATACATATAAATATATGTATATACATATAA ATATATATGTATATACATATAAATATATATGTATATACATATATATATGT ATATACATATATATATATGTATATACATATATATATGTATATACATATAT ATATATGTATATACATATAAATATATATGTATATACATATAAATATATAT GTATATACATATAAATATATATGTATATACATATAAATATATATGTATAT ACATATAAATATATATGTATGTATATTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATTTATATACATA TAAATATATATTTACATACATATAAATATATATTTACATACATATAAATA TATACATTTATATACATATAAATATATACATATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATATATTTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATATA AATATATATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	292	0.0034	719	c.51 others(730): Show c.5106_*5107insTATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATATA AATATATATAAATATATATATTTATATGTATATAAATATATATTTATATG TATATATGTATATATTTATATGTATATAAATGTATATATTTATATGTATG TAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAATATACATACATATATATTTATATGTATATACATATATAT TTATATGTATATACATATATATTTATATGTATATACATATATATTTATAT GTATATACATATATATTTATATGTATATACATATATATATATGTATATAC ATATATATATGTATATACATATATATATATGTATATACATATATATATGT ATATACATATATATTTATATGTATATACATATATATTTATATGTATATAC ATATATTTATATGTATATACATATATATTTATATGCATATAAATATATAT TTATATGCATATAAATATATATGTATATGCATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4328		chr13	TogoVar
FTCD_chr21_46131779_46160579	46144472	C C	CTCCCCCC others(712): Show CTCCCCCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCC CTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCC CTCCCCTTCCCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCC TCCCCTCACCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCCCTC CCTCTCCCTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCTCTCCCCCTCTC CCTCTTTCTCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCC CCCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTC CCCCTCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCC CTCCCCCTCCCTCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTG TCTCCCCCTCTCCCCCCCTCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCC TCCCTCTCTCCCCCTGCCCTCTCTCCCCCCTCCCTCTCTCCCCCCCTCCC CCTCTTCCCCTCCCTCTCTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCT TCTCCCTCTCTCCCCCCCTTTCCCTCCCTCTCCCTCTCTCTCCCTCTCCC CCCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCT CCCCTCTCTCCCACCCTCTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	230	0.0044	719	c.126 others(736): Show c.1260+944_1260+945insCAGAGGGTGGGAGAGAGGGGAGGAAGGA AAGGGGGGAAAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGGGGGGAGAGG GAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGAGAGAGGGAGAAGGAGGTG GGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGAGGGGAAGAGGGGGAGGGG GGGAGAGAGGGAGGGGGGAGAGAGGGCAGGGGGAGAGAGGGAGGGGGGAG AGGGAGAGGGGGGAGAGAAGGAGAGGGGGGGAGAGGGGGAGACAGGGAGG AAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGGAGGGGGAGGGAGAGAG AGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAGAGGGGGAGGGAGA GAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAGGGGGAGGGAG AGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGGAGAAAGAGGGAGAGGGG GAGAGGGGGAGAGAGGGAGAGGGAGGGAGGGGGAGGGAGAGGGAGGGAGA GAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGGTGAGGGGAGGGAGGGA GAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGGAAGGGGAGGGAGGGAG AGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGG GGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGGGGGA	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(712): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCC TTCCCCCCTCTCCCTCCCTCCCCTTCCCCCCCTCTCCCTCCCTACCCTCT CTCCCCCCTCTCCCTCCCTCCCCTCTCACCCCCCTCCCTCCCCTCTCTTC CCTCTCCCCCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTCCCTC TCTCCCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTCTCCC CTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCGCTCCCTCTCTC CCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCTCCATC CTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCCCCCTCTCCTTCTCTC CCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTCTCCCCCC TCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCCTCCTTCT CCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCGCCCTTTCCCTCCCT CTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCTCCCCCCTCTCCCTCT CCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCCACCCTCT GTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0077 a0003c0007t0002g0077	1	230	0.0044	719	c.126 others(736): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGG AAAGGGCGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAG GGGGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAG AGAGGGCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAG GAGAGGGGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGA GAGGGGAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGG GAGCGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGA GGGAGCGGGAAGGAGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGGAGA GGGAGGGAGGGGGAGGGAGAGGGAGGGAGAGAGGGGGAGAGGGAAGAGAG GGGAGGGAGGGGGGTGAGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTA GGGAGGGAGAGGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAAGGGGAGGG AGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGGGGGGGAAAGGGGAGGGA GAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GNG13_chr16_793041_805734	795584	G G	GCCCCCCC others(712): Show GCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCC CCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCA AACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCAC ACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCC GCCCCGCCCCTCCCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	719	c.31 others(730): Show c.3134_*3135insGGGGAGGGGAGGGGCGGGGCGGGGCGGCACGGGG CCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCAC ACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGC AGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGT TTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTG GGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGG GGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGG GGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGA AGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGC ACGGGGCCGGGGGCAGCCACACGGGCAGCACAGGGGGGCGGGCACGGGGC CGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2456		chr16	TogoVar
GNG13_chr16_793041_805734	795584	G G	GCCCCCCC others(712): Show GCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCC CCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCA AACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAAC CACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACAC TGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCC GCCCCGCCCCTCCCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	719	c.31 others(730): Show c.3134_*3135insGGGGAGGGGAGGGGCGGGGCGGGGCGGCACGGGG CCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCAC ACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGC AGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGT TTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTG GGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGG GGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGG GCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAA GGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGC ACGGGGCCGGGGGCAGCCACACGGGCAGCACAGGGGGGCGGGCACGGGGC CGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2456		chr16	TogoVar
GNG13_chr16_793041_805734	795584	G G	GCCCCCCC others(712): Show GCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCC CCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCA AACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAAC CACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACAC TGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCC CGCCCCGCCCCTCCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	719	c.31 others(730): Show c.3134_*3135insGGGAGGGGAGGGGCGGGGCGGGGCGGCACGGGGC CGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGGGCAGCCA CACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACA CGGGCAGTGTGGTTGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGC AGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGT TTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTG GGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGG GGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGG GCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAA GGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGC ACGGGGCCGGGGGCAGCCACACGGGCAGCACAGGGGGGCGGGCACGGGGC CGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2456		chr16	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TGGAATAC others(712): Show TGGAATACATATATATGGAATACATATATATGGAATACATATATGGAATA CATATATATGGAATACACATATGGAATACATATATATGGAATACATATAT GGAATACATATATATGGAATACATATATGGAATACATATATATGGAATAC ATATATGGAATACATATATATGGAATACATATATGGAATACATATATGTG GAATACATATATGGAATATATATATATGTGGAATATATATATATGGAATA TATATATGGAATATATATATATGGAATATATATATGGAATATATATACAT GGAATATATATATGGAATATATATACATGGAATATATATATGGAATATAT ATACATGGAATATATATATGGAATATATATACATGGAATATATATATATG GAATATATACATGGAATATATATATGGAATATATACATATGGAATATATA TATGGAATATATACATATGGAATATATATATGGAATATATACATATGGAA TATATATATGGAATATATACATATGGAATATATATATGGAATATATACAT ATGGAATATATATATGGAATATATACATATGGAATATATATATGGAATAT ATACATATGGAATATATATGGAATATATACGTATGGAATATATATATGGA ATATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATA TATGGAATATATACGTATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0200 a0002c0002t0002g0200	1	323	0.0031	719	c.-21 others(730): Show c.-2147_-2146insGGAATACATATATATGGAATACATATATATGGAA TACATATATGGAATACATATATATGGAATACACATATGGAATACATATAT ATGGAATACATATATGGAATACATATATATGGAATACATATATGGAATAC ATATATATGGAATACATATATGGAATACATATATATGGAATACATATATG GAATACATATATGTGGAATACATATATGGAATATATATATATGTGGAATA TATATATATGGAATATATATATGGAATATATATATATGGAATATATATAT GGAATATATATACATGGAATATATATATGGAATATATATACATGGAATAT ATATATGGAATATATATACATGGAATATATATATGGAATATATATACATG GAATATATATATATGGAATATATACATGGAATATATATATGGAATATATA CATATGGAATATATATATGGAATATATACATATGGAATATATATATGGAA TATATACATATGGAATATATATATGGAATATATACATATGGAATATATAT ATGGAATATATACATATGGAATATATATATGGAATATATACATATGGAAT ATATATATGGAATATATACATATGGAATATATATGGAATATATACGTATG GAATATATATATGGAATATATACGTATGGAATATATATATGGAATATATA CGTATGGAATATATATATGGAATATATACGTATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323156	A A	ACGTATGG others(712): Show ACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGA ATATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATA TATATGGAATATACGTATGGAATATATATATATGGAATATACGTATGGAA TATATATATATGGAATATACGTATGGAATATATATATATGGAATATATAT GTATGGAATATATATATGGAATATATATGTATGGAATATATATATGGAAT ATATATGTATGGAATATATATGTATGGAATATATATGTATGGAATATATA TATGGAATATATATGTATGGAATATATATATGGAATATATGTATGGAATA TATATGTATGGAATATACGTATGGAATATATATGTATGGAATATACATAT GGAATATATATGTATGGAATATACATATGGAATATATATGTATGGAATAT ACATATATGGAATATATATGTATGGAATATATATATATGGAATATATATG TATGGAATATATATATGGAATATATGTATGGAATATATATATATGGAATA TATGTATGGAATATATATATATGGAATATATGTATGGAATATATATATAT GGAATATATGTATGGAATATATATATGGAATATATGTATATGGAATATAT ATATGGAATATATGTATATGGAATATATATATGGAATATATGTATATGGA ATATATATATGGAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	323	0.0031	719	c.-19 others(730): Show c.-1900_-1899insCGTATGGAATATATATATGGAATATATACGTATG GAATATATATATGGAATATATACGTATGGAATATATATATGGAATATATA CGTATGGAATATATATATATGGAATATACGTATGGAATATATATATATGG AATATACGTATGGAATATATATATATGGAATATACGTATGGAATATATAT ATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGGA ATATATATATGGAATATATATGTATGGAATATATATGTATGGAATATATA TGTATGGAATATATATATGGAATATATATGTATGGAATATATATATGGAA TATATGTATGGAATATATATGTATGGAATATACGTATGGAATATATATGT ATGGAATATACATATGGAATATATATGTATGGAATATACATATGGAATAT ATATGTATGGAATATACATATATGGAATATATATGTATGGAATATATATA TATGGAATATATATGTATGGAATATATATATGGAATATATGTATGGAATA TATATATATGGAATATATGTATGGAATATATATATATGGAATATATGTAT GGAATATATATATATGGAATATATGTATGGAATATATATATGGAATATAT GTATATGGAATATATATATGGAATATATGTATATGGAATATATATATGGA ATATATGTATATGGAATATATATATGGAATATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1813		chr21	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(712): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTGTCCCTCCTCTCCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	370	0.0027	719	c.-27 others(730): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG GAGAGGAGGGACAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(712): Show CGGGTGTGAGTCGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTG ATGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGA CGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCACGGGAGGGG TGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCG AGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTG GTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGT CTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGGT GGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGT GTGCAGTGGTGTCTCGGGAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0288 a0001c0002t0001g0288	1	294	0.0034	719	c.153 others(738): Show c.1530-4959_1530-4958insATCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCG TGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCA CGCACACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACACCACTCG CACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACC CGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCCTC CCGTGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCGA GACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACA CCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCA CTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACATCACTCA CACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGT CCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCC CGAGACACCACTGCACACCCGTCCCGTGACACGACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859736	C C	CGGGTGTG others(712): Show CGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGG TGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGT GAGTGATGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGT GTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGCGAGTGGTGTC TCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGG GACGGGTGCGAGTGGTGTCACGGGAGGTGTGCGAGTGGTGTCTCGGGACG GGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTG CGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTC TCGGGACGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGG GGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGTG GGTGTGAGTGGTGTCTCGGGGTGGGTGTGCAGTGGTGTCTCGGGATGGGT GTGCAGTGGTGTCTCGGGGT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0005t0001g0113 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0005t0001g0113	3	294	0.0102	719	c.153 others(738): Show c.1530-5031_1530-5030insACCCCGAGACACCACTGCACACCCAT CCCGAGACACCACTGCACACCCACCCCGAGACACCACTCACACCCACCCC GAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCGAGA CACCACTCACACCCACCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTG CACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACGCACA CCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACTCGCACCCG TCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCC GAGACACCACTCGCACACCTCCCGTGACACCACTCGCACCCGTCCCGTGA CACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACC ACTCGCACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACT GCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACATCACTCACACCC GTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTC CCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MAN2B2_chr4_6570189_6628362	6579111	T T	TCACCACC others(712): Show TCACCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCAC CACCACCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCAC CATCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCAC CATCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCA CCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACC ATCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	362	0.0028	719	c.391 others(734): Show c.391+618_391+619insCCACCACCACCACCACCACCATCACCACCA CCACCCTTCACCACCACCACCACCACCACCACCATCACCACCACCACCCT TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCATCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACC ACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCAC CATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCA TCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GTGGTGCT others(712): Show GTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGGGGGTGGTGGTGGGGA TGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTGCTGGTGGTAGAGGTT ATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGGTGATAGTGGTGGTGGG GGTGGAGATGGTGATGGTAGTGGTGATGGTAGAGGTTATGGTGGTGGTGG TGATGGTGTTGGTAGAGGTGATGGTGATAGAGGTGATGGTGATGGTGGTG GTGGGGGTGATGGTGACAGGAGGTGGTGGCGATGATGGAAATGATGGTGG TAGTGAAGGTGATGGTGGTGGTGGTGATGGTAGTCGAGGTGATGGTGGTA GTGATGGTGGTGGTGGTGGAGGTGATGGTAGTGGAGGTGATGGTGGTGGA GATGATCATGATGGTGGTGGTGGTGATGGTGGAGGGTGTGGTGGTAGTGA AGGTGATGGTGGTGGTGGTAGAGGTGATGGTAATGGTGGAGGTGATGGTG GTGATGGTGGTAGTGAAAGTGATGGTGGTGATGGTGGAGGGTGTGGTGGT AGTGAAGGTGATGGTGGTGGTGGTGATGGCAGAGGGTGTGGTGGTAGTGA AGGTGATGGTGGTGGTGGTAGAGGTGATGGTAGAGGTGATGGTAATGGTG GAGGTGATGGTGGTGATGATGGTGGTAGTGAAAGTGATGGTGGTGATGGT TGAGGGTGTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02717.hp2 others(2): Show HG02622.hp2 HG02630.hp2 HG02717.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0184 others(2): Show a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0184 a0001c0001t0001g0252 a0001c0001t0002g0091	5	274	0.0183	719	c.480 others(738): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAACCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCTGCCATCACCACCACCACCATCACCTTCACTACCACC ACACCCTCCACCATCACCACCATCACTTTCACTACCACCATCACCACCAT CACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCCACCATCACCACCACCACCATCATGATCATCTCCACC ACCATCACCTCCACTACCATCACCTCCACCACCACCACCATCACTACCAC CATCACCTCGACTACCATCACCACCACCACCATCACCTTCACTACCACCA TCATTTCCATCATCGCCACCACCTCCTGTCACCATCACCCCCACCACCAC CATCACCATCACCTCTATCACCATCACCTCTACCAACACCATCACCACCA CCACCATAACCTCTACCATCACCACTACCATCACCATCTCCACCCCCACC ACCACTATCACCACCTCCACCCCCACCATCACCACCACCACCATAACCTC TACCACCAGCACCTCCACCACCACCATCACCATCACCACCTCCATCCCCA CCACCACCCCCCACCACCATCACCACCACCATCACCAGCACCA	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(712): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCT CCCTTCCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCT CCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCC CTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCT CTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCC TTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCC CTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCT CTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCC CTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCT TTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA19043.hp1 NA18522.hp2 NA19043.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0002 a0006c0015t0002	a0006c0015t0002g0122 a0006c0015t0002g0123 a0006c0015t0002g0122 a0006c0015t0002g0123	2	318	0.0063	719	c.-49 others(730): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGA GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGG GAAGGGAGGGGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTG GAGGAGAGGGGAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAG AGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAG AGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GGGAAGGG others(712): Show GGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGG GAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAG GGGGAAAAGGGGCGGGGAAGGGGGGGAAAAGGGGCGGGGGGGAAGGGGGA AAGGGGTGGGGGGAAGGGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGG GAAGGGGGAAAGGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGGGGAGGGGAGGGGGGGAGGGGAGGGGGGAGGGGGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGGA GGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGG AGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGGAGGGGAGTGG AGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGA GGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGG AGGGGAGGGGAAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0179 a0002c0002t0002g0179	1	272	0.0037	719	c.250 others(734): Show c.250+583_250+584insACCCTCCCTTCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCT CCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCT CCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCTC CCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCTCC CCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCTCC CCCTCCCCCTCCATCCTCCCCTCACCCCCTTTCCCCCTTCCCCCCTTCCC CTCACCCCTTTCCCCTTCCCCCCCCTTCCCCCCACCCCTTTCCCCCTTCC CCCCCGCCCCTTTTCCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGC CCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTC CCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCC	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(712): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAAGAACCCATGGATTGAAACATGTTTAATGTGTTTCAATCCAA TGCAGTTGCCTTTTTTTTTTTTTTTTTCAGACGGAGGCTCGCTCTGTCGC CAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCC CGGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACTACA GGCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCG CCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGC CCAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTTTGG ATAAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGTGCGGTGGCTCACA CCTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	438	0.0023	719	c.39 others(730): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGC CTCCGTCTGAAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAACAC ATTAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTCTGG CTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACGGCAAC CTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCCTCC CGAGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATTTTGGT ATTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAAT TCCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(712): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAAGAACCCATGGATTGAAACATGTTTAATGTGTTTCAATCCAA TGCAGTTGCCTTTTTTTTTTTTTTTTTCAGACGGAGTCTCGCTCTGTCGC CAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCC CAGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACTACA GGCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCG CCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGC CCAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTTTGG ATAAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGTGCGGTGGCTCACA CCTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	719	c.39 others(730): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCTGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGA CTCCGTCTGAAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAACAC ATTAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTCTGG CTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACGGCAAC CTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCCTCC CGAGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATTTTGGT ATTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAAT TCCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(712): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAAGAACCCATGGATTGAAACATGTTTAATGTGTTTCAATCCAA TGCAGTTGCCTTTTTTTTTTTTTTTTTCAGACGGAGTCTCGCTCTGTCGC CAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCC CGGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACTACA GGCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCA CCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGC CCAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTTTGG ATAAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGTGCGGTGGCTCACA CCTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03579.hp1 HG02818.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0034 a0001c0001t0006g0034	2	438	0.0046	719	c.39 others(730): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGA CTCCGTCTGAAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAACAC ATTAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTCTGG CTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACGGCAAC CTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCCTCC CGAGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATTTTGGT ATTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAAT TCCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(712): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAAGAACCCATGGATTGAAACATGTTTAATGTGTTTCAATCCAA TGCAGTTGCCTTTTTTTTTTTTTTTTTCAGACGGAGTCTCGCTCTGTCGC CAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCC CGGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACTACA GGCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCG CCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGC CCAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTTTGG ATAAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGTGCGGTGGCTCACA CCTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(292): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0005 a0001c0007 others(3): Show a0001c0001 a0001c0005 a0001c0007 a0001c0009 a0004c0004 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0005t0001 a0001c0007t0006 a0001c0009t0001 a0004c0004t0001 a0005c0006t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(66): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0003g0004 a0001c0001t0004g0021 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0103 a0001c0001t0005g0013 a0001c0001t0005g0046 a0001c0001t0005g0098 a0001c0001t0006g0012 a0001c0001t0006g0018 a0001c0001t0006g0092 a0001c0001t0007g0011 a0001c0001t0007g0035 a0001c0001t0007g0038 a0001c0001t0007g0055 a0001c0001t0007g0080 a0001c0001t0007g0086 a0001c0001t0007g0094 a0001c0001t0008g0099 a0001c0001t0010g0083 a0001c0001t0012g0027 a0001c0001t0013g0079 a0001c0001t0014g0084 a0001c0001t0016g0085 a0001c0001t0018g0087 a0001c0005t0001g0081 a0001c0007t0006g0082 a0001c0009t0001g0088 a0004c0004t0001g0052 a0005c0006t0004g0061	295	438	0.6735	719	c.39 others(730): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGA CTCCGTCTGAAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAACAC ATTAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTCTGG CTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACGGCAAC CTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCCTCC CGAGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATTTTGGT ATTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAAT TCCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(712): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAAGAACCCATGGATTGAAACATGTTTAGTGTGTTTCAATCCAA TGCAGTTGCCTTTTTTTTTTTTTTTTTCAGACGGAGTCTCGCTCTGTCGC CAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCC CGGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACTACA GGCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCG CCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGC CCAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTTTGG ATAAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGTGCGGTGGCTCACA CCTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02723.hp2 HG02886.hp1 others(5): Show HG02257.hp2 HG02723.hp2 HG02886.hp1 HG03139.hp2 HG03225.hp1 HG03579.hp2 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0016 a0001c0001t0005g0056 a0001c0001t0005g0069 others(1): Show a0001c0001t0005g0016 a0001c0001t0005g0056 a0001c0001t0005g0069 a0001c0001t0017g0071	8	438	0.0183	719	c.39 others(730): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGA CTCCGTCTGAAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAACAC ACTAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTCTGG CTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACGGCAAC CTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCCTCC CGAGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATTTTGGT ATTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAAT TCCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(712): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTGGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAAGAACCCATGGATTGAAACATGTTTAATGTGTTTCAATCCAA TGCAGTTGCCTTTTTTTTTTTTTTTTTCAGACGGAGTCTCGCTCTGTCGC CAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCC CGGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACTACA GGCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCG CCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGC CCAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTTTGG ATAAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGTGCGGTGGCTCACA CCTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	438	0.0023	719	c.39 others(730): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGA CTCCGTCTGAAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAACAC ATTAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTCTGG CTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACGGCAAC CTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCCTCC CGAGTAGCTGGGACCACAGGGATGTGCCACCACACCCAGATAATTTTGGT ATTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAAT TCCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
PDCD6_chr5_266646_319974	318239	A A	AACCCTGC others(712): Show AACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCC CCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACC TCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTC CATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCC TTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCT CCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTC CCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACC TCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTG CACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCA TCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCC AATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCC CCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTT TACCTCCCCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTT CACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTC CCCCTGCACCTCCCGCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	360	0.0028	719	c.37 others(730): Show c.3724_*3725insACCCTGCACCTCCCCCAATCCTTCACCTCCCCCC TCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCC CCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTA CCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTT CACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCAC CCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCC CCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTC CCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCAC CTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACC CTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAA CCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCC TCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCA CCTCTCCCCATCTTTTACCTCCCCCCACCCTGCATCTCCCCCAACCCTGC ACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCCCCCACC CTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3266		chr5	TogoVar
PKP3_chr11_389209_409908	401878	G G	GGCCCGCT others(712): Show GGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCC CGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGC TCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCA CACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCC CGCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCC CCGCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTC ACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGG CCCCGCTCACACCCGCCCCGCTCACCCCCAGCCCCGCTCACACCTGCCCC GCTCACCCCCGGCCCCGCTC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0160 a0001c0003t0001g0160	1	216	0.0046	719	c.173 others(738): Show c.1737+1173_1737+1174insGCCCGCTCACACCCGCCCCGCTCACC CCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCC CCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCG CTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCA CACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCC CGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGC CCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCC GCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCC CCAGCCCCGCTCACACCTGCCCCGCTCACCCCCGGCCCCGCTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PXDN_chr2_1626887_1749515	1703572	A A	ACAACTCC others(712): Show ACAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGGGGGCAACTCCA GGTGAAGGGGGGACAACTCCAGGTGAAGGGGGGACAGCTCCAGGTGAAGG GGGGACAGCTCCAGGTGAAGGAGGGACAACTCCAGGTGAAGCGGGGGACA ACTCCAGGTGAAAGAGGGACAACTCCAGGTGAAGGGGGGGCAACTCCTGG TGAAGGGGGGGCAACTCCAGGTGAAGGTAGGGGACAACTCCAGGTGAAGG GGGGCAACTCCAGGTGAAGGGGGGGGCAACTCCAGGTGAAGGAGGGCAAC TCCAGGTGAAGGTAGGGGACAACTCCAGGTGAAGGGGGGCAACTCCAGGT GAAGGGAGGGCAACTCCAGGTGAAGGGGGGGACAGCTCCAGGTGAAGTGG GGGACAGCTCCAGGTGAAGGAGGGACAACTCCAGGTGAAGGAGGGACAAC TCCAGGTGAAGCGGGGGACAACTCCCGGTGAAGGAGAGACAACTCCAGGT GAAGGGGGGGCAACTCCAGGTGAAGGGGGGGCAACTCCAGGTGAAGGGGG GGCAACTCCAGGTGAAGGGGGGACAACTCCAGGTGAAGGGGGGGCAGCTC CAGGTGAAGGGGGGGCAGCTCCAGGTGAAGGTGGGGCAACTCCAGGTGAA GGGGGGGCAACTCCAGGTGAAGGGGGGACAACTCCAGGTGAAGGGGGGAC AACTCCAGGTGAAGGGGGGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0284 a0001c0006t0004g0284	1	322	0.0031	719	c.201 others(738): Show c.201-10439_201-10438insCCCCCCCTTCACCTGGAGTTGTCCCC CCTTCACCTGGAGTTGTCCCCCCTTCACCTGGAGTTGCCCCCCCTTCACC TGGAGTTGCCCCACCTTCACCTGGAGCTGCCCCCCCTTCACCTGGAGCTG CCCCCCCTTCACCTGGAGTTGTCCCCCCTTCACCTGGAGTTGCCCCCCCT TCACCTGGAGTTGCCCCCCCTTCACCTGGAGTTGCCCCCCCTTCACCTGG AGTTGTCTCTCCTTCACCGGGAGTTGTCCCCCGCTTCACCTGGAGTTGTC CCTCCTTCACCTGGAGTTGTCCCTCCTTCACCTGGAGCTGTCCCCCACTT CACCTGGAGCTGTCCCCCCCTTCACCTGGAGTTGCCCTCCCTTCACCTGG AGTTGCCCCCCTTCACCTGGAGTTGTCCCCTACCTTCACCTGGAGTTGCC CTCCTTCACCTGGAGTTGCCCCCCCCTTCACCTGGAGTTGCCCCCCTTCA CCTGGAGTTGTCCCCTACCTTCACCTGGAGTTGCCCCCCCTTCACCAGGA GTTGCCCCCCCTTCACCTGGAGTTGTCCCTCTTTCACCTGGAGTTGTCCC CCGCTTCACCTGGAGTTGTCCCTCCTTCACCTGGAGCTGTCCCCCCTTCA CCTGGAGCTGTCCCCCCTTCACCTGGAGTTGTCCCCCCTTCACCTGGAGT TGCCCCCCTTCACCTGGAGTTGCCCTCCCTTCACCTGGAGTTG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB11FIP3_chr16_420649_528011	492507	C C	CCCAGAGC others(712): Show CCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTTCCC GGGAGACCCGAGGCCGTCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCC GTCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCC TTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGA GGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGG CCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCC GAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAG GGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGAC CCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCC AGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAG ACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGT CCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGG AGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCC GTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCG GGAGACCCGAGGCCGTCCGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18522.hp2 HG01243.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0038 a0001c0002t0009 a0001c0002t0038	a0001c0002t0009g0040 a0001c0002t0038g0038 a0001c0002t0009g0040 a0001c0002t0038g0038	2	295	0.0068	719	c.126 others(738): Show c.1265+3511_1265+3512insAGCCCTTCCCGGGAGACCCGAGGCCG TCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCT TCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTTCCCGGGAGACCCGA GGCCGTCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCGTCCAGG GCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACC CGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCA GGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGA CCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTC CAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGA GACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCG TCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGG GAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTC CGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCC GGGAGACCCGAGGCCGTCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCG TCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79555282	A A	AGTGGTGG others(712): Show AGTGGTGGTGATGGTGGTGATGATGGTGGTGGTATTGATGGAGATGATGA TGACAGTGATAATGGTGGTGGTGGTAATGGTGATTATATGTCAGTGATGG TGGTGGTGGTGGTGATGGTGATGATAGTCATGATGGTGGTGATAGTGATG GCAATGGTGATGATGGCAGTGATGGTGATTATGAGAGTAGTGATGGTGGT GATGGCGATGGTAATGGTGATAATGGCGATGATGGTGGTGATGGTGATGA TGATAGTAATGATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATA ATAGTGATAATGGTGGTGACGGCAGTGGTGGTGGTGGTAATGGTGATCAT GTCAGTGATGGTGGTGGTGGTGATGATAGTAATGATGGTGGTGATGGTGG TGGCAATGGTGATGATGGCAGTGATGGCGGTGAGGGTGATTATGATAGTA GTGATGGTGATGGCAATGGTAATGGTGATAATGGCGATGATGGTGGTGAT GGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGACGG CAGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTGGTGGTGGTGATG GTGGTGATGATGGTAGTTGTGGTGGTGGTGATGGTGGTGATGATGGTAGT TGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTGGTGGTGGTGATGG TGGTGATGATGGTAGTTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0105 a0001c0001t0004g0105	1	154	0.0065	719	c.-32 others(740): Show c.-320+55543_-320+55544insCACAACTACCATCATCACCACCAT CACCACCACCACAACTACCATCATCACCACCATCACCACCACCACAACTA CCATCATCACCACCATCACCACCACCACAACTACCATCATCACCACCATC ACCACCACCACAACTACCATCATCACCACCATCACCACCACCACTGCCGT CACCACCATTATCACTATTATCACCACCGTTACCACCACCACTGCCATCA CCACCATCATCGCCATTATCACCATTACCATTGCCATCACCATCACTACT ATCATAATCACCCTCACCGCCATCACTGCCATCATCACCATTGCCACCAC CATCACCACCATCATTACTATCATCACCACCACCACCATCACTGACATGA TCACCATTACCACCACCACCACTGCCGTCACCACCATTATCACTATTATC ACCACCGTTACCACCACCACTGCCATCACCACCATCATTACTATCATCAT CACCATCACCACCATCATCGCCATTATCACCATTACCATCGCCATCACCA CCATCACTACTCTCATAATCACCATCACTGCCATCATCACCATTGCCATC ACTATCACCACCATCATGACTATCATCACCATCACCACCACCACCACCAT CACTGACATATAATCACCATTACCACCACCACCATTATCACTGTCATCAT CATCTCCATCAATACCACCACCATCATCACCACCATCACCACCAC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(712): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCC CTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCTCCCCCC TCCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCT CCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTC CCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCC CTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0022 a0002c0004t0022	a0002c0004t0022g0007 a0002c0004t0022g0007	1	150	0.0067	719	c.77- others(736): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCCTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCT CCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(712): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCC CTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCTCCCCCC TCCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCT CCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTC CCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCC CTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18906.hp2 HG03139.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0007 a0002c0005t0011 a0001c0001t0007 a0002c0005t0011	a0001c0001t0007g0130 a0002c0005t0011g0129 a0001c0001t0007g0130 a0002c0005t0011g0129	2	158	0.0127	719	c.22+ others(736): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCCTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCT CCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHOX_chrX_625791_656584	625878	T T	TTCTCTCT others(712): Show TTCTCTCTCTCCTCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTCTATC TCTGTCTCTCTTTCTCTCTGTCTTCGTTCCTCTCTCTCTTTTTCTCTTTC TCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTGTCT CTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTCTCTCCTC TCTTTTTCTCTGTCTCTGTCTGTATCTCTGTCTATCTCTGTCTCTCTCTC TCCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTCTATCTCTGTCTCTCT TTCTCTCTGTCTTCGTTCCTCTCTCTCTTTTTCTCTTTCTCTGTATCTCT ATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTGTCTCTTTTTCTCTG TCTCTCTCTGTGTCTCTACCTCTGTCTCTCTCTCTCCTCTCTTTTTCTCT GTCTCTGTCTGTATCTCTGTCTATCTCTGTCTCTCTCTCTCCTCTCTCTC TTTCTCTGTCTCTGTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTGTC TTCGTTCCTCTCTCTCTTTTTCTCTTTCTCTGTATCTCTATCTCTGTCTC TCTTTCTCTCTCTCCTCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGT GTCTCTACCTCTGTCTCTCTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTG TATCTCTGTCTATCTCTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0141 a0001c0001t0141	a0001c0001t0141g0177 a0001c0001t0141g0177	1	220	0.0046	719	c.-50 others(730): Show c.-5020_-5019insTCTCTCTCTCCTCTCTCTCTCTTTCTCTGTCTCT GTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTGTCTTCGTTCCTCTCT CTCTTTTTCTCTTTCTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTCT CCTCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTG TCTCTCTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTATCTCTGTCTAT CTCTGTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTC TATCTCTGTCTCTCTTTCTCTCTGTCTTCGTTCCTCTCTCTCTTTTTCTC TTTCTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCT GTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTCTCT CCTCTCTTTTTCTCTGTCTCTGTCTGTATCTCTGTCTATCTCTGTCTCTC TCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTCTATCTCTGTCT CTCTTTCTCTCTGTCTTCGTTCCTCTCTCTCTTTTTCTCTTTCTCTGTAT CTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTGTCTCTTTTTC TCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTCTCTCCTCTCTTTTT CTCTGTCTCTGTCTGTATCTCTGTCTATCTCTGTC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4912		chrX	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(712): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGG GAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGGA GGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGGA GGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAG GGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGGG GGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGG GAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00738.hp2 others(43): Show HG00099.hp1 HG00597.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01517.hp1 HG01891.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02165.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02895.hp2 HG03017.hp1 HG03017.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp2 NA18999.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	46	352	0.1307	719	c.12 others(730): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTC CCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCC CCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCT CTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCT CCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCC CTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCT CCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCT CCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCC CCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCTTT CCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(712): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGG GAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGGA GGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGTGAAGGGGGA GGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAG GGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGGG GGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGG GAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG02273.hp2 HG01993.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	352	0.0057	719	c.12 others(730): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCACCTC CCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCC CCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCT CTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCT CCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCC CTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCT CCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCT CCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCC CCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCTTT CCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(712): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGG GAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGGA GGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGGA GGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAG GGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGGG GGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGG GAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	719	c.12 others(730): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTC CCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCC CCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCT CTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCT CCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCC CTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCT CCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCT CCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCC CCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTT CCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SRXN1_chr20_641615_658200	642043	G G	GGGGGAGG others(712): Show GGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGG GTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCC CAGCGGGGGTGGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTG CCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCC AGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	422	0.0024	719	c.66 others(730): Show c.6670_*6671insTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCC GCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCAC AGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCA GGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGG GCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4571		chr20	TogoVar
SRXN1_chr20_641615_658200	642352	G G	GGGGGGGG others(712): Show GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGC CCAGCGGGGGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	422	0.0024	719	c.63 others(730): Show c.6361_*6362insGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACA GGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGC TGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGC TGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACCCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGC AACTCCACCCCCGCTGGGCACCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4262		chr20	TogoVar
TAF4_chr20_61969798_62070881	61982228	A A	ACCCCAGA others(712): Show ACCCCAGAGGAGACACCAAACTCACACCCCACCCGAGAGGAGACACCAAA CCCACACCCACCTGAGAGGAAACACCAAACCCACAACCCACCGGAGAGGA GACACCAAAACCCACACAACCCACATCCACCCGAGAGGAGACACCCAACC TATACCCCACCAGAGAGGAGACACCAAACCCATACCCCACGAGAGAGGAG ACACCAAACCCATACCCCACCAGAGACGAGACACCAAAACCCACACAACC GACACCCACCCAAGAGGAGACACCAAACCCACACCCACCTGAGAGGAAAC ACCAAACCCACACCCACCTGAGAGGAAACACCAAACCCACACCCACCTGA GAGGAAACACCAAACCCACAACCCACCGGAGAGGAGACACCAAAACCCAC ACAACCCACATCCACCCGAGAGGAGACACCCAACCTATACCCCACCAGAG AGGAGACACCAAACCCATACCCCACGAGAGAGGAGACACCAAACCCATAC CCCACCAGAGACGAGACACCAAAACCCACACAACCGACACCCACCCAAGA GGAGACACCAAACCCACACCCACCTGAGAGGAAACACCAAACCCACACCC ACCTGAGAGGAAACACCAAACCCACACCCACCTGAGAGGAAACACCAAAC CCACACCCTACCAGAGAGGAGACACCAAAACCCACATCCACCTGAGAGGA GACACCAAACCCACACCCAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02896.hp2 HG02897.hp2 others(1): Show HG02572.hp1 HG02896.hp2 HG02897.hp2 NA19030.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0005 a0004c0009t0001g0006 a0004c0009t0001g0007 others(1): Show a0004c0009t0001g0005 a0004c0009t0001g0006 a0004c0009t0001g0007 a0004c0009t0001g0008	4	314	0.0127	719	c.309 others(738): Show c.3091-5894_3091-5893insGTGGGTGTGGGTTTGGTGTCTCCTCT CAGGTGGATGTGGGTTTTGGTGTCTCCTCTCTGGTAGGGTGTGGGTTTGG TGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTTTCCTCTCAGGTGGGTGT GGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTCTCCTCTTGG GTGGGTGTCGGTTGTGTGGGTTTTGGTGTCTCGTCTCTGGTGGGGTATGG GTTTGGTGTCTCCTCTCTCGTGGGGTATGGGTTTGGTGTCTCCTCTCTGG TGGGGTATAGGTTGGGTGTCTCCTCTCGGGTGGATGTGGGTTGTGTGGGT TTTGGTGTCTCCTCTCCGGTGGGTTGTGGGTTTGGTGTTTCCTCTCAGGT GGGTGTGGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTTTCC TCTCAGGTGGGTGTGGGTTTGGTGTCTCCTCTTGGGTGGGTGTCGGTTGT GTGGGTTTTGGTGTCTCGTCTCTGGTGGGGTATGGGTTTGGTGTCTCCTC TCTCGTGGGGTATGGGTTTGGTGTCTCCTCTCTGGTGGGGTATAGGTTGG GTGTCTCCTCTCGGGTGGATGTGGGTTGTGTGGGTTTTGGTGTCTCCTCT CCGGTGGGTTGTGGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGT GTCTCCTCTCGGGTGGGGTGTGAGTTTGGTGTCTCCTCTGGGG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
THBS2_chr6_169210785_169258846	169242751	T T	TTCCCACC others(712): Show TTCCCACCACTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACC TTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCACTG CTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACATTCCCACCTT CCCACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTT CCCACATTCCCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTC CCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTC CCACATTCCCACCTTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCC CACCTTCCCACCACTCCTACCTTCCTACCTTCCCACCGCTCCCACATTCT CACCTTCCCACCTTTCCACCTTCCCACCACTCCTACCTTCCCACCTTCCC ACATTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCAC CGCTCCCACCTTCCCATCACTCCCACCTTCCCACCGCTCCCACCTTCCCA CCTTCCCACCACTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCA CCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCGCTCCCA CCTTCCCACCTTCCCACCTTCCCACCACTCCCACCTTCCCAGTGCTCCCA TCTTCCCACCTTCCCACCAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0245 a0001c0008t0006g0245	1	396	0.0025	719	c.695 others(734): Show c.695-794_695-793insGTGGTGGGAAGGTGGGAAGATGGGAGCACT GGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGCGGT GGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTG GGAGCGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTG GGAGCGGTGGGAAGGTGGGAGTGATGGGAAGGTGGGAGCGGTGGGAAGGT GGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGG GAAGGTAGGAGTGGTGGGAAGGTGGAAAGGTGGGAAGGTGAGAATGTGGG AGCGGTGGGAAGGTAGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGG AGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGA GCGGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGA GCGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAA GGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAA TGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAG GTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGG TGGGAAGGTGGGAGTGGTGGGAAGGTGGGAGTGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GGTTAGGG others(712): Show GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTA GGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACC AAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTA GGAAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCC AGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGG GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGATTAGGGAG GCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGG GGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGATTAGGGAGGCA GGGATTAGGGAGGCCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	466	0.0022	719	c.49 others(730): Show c.4905_*4906insACCCCGGCCTCCCTAATCCCTGCCTCCCTAATCC CTGCCTCCATAATCCCTGCCTCCATAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCC TGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCCCTAATCCCTG CCTCCATAATCCCTGCCTCCATAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAA CCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGC CTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCCTC CCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAAC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930820	G G	GTTAGGGA others(712): Show GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGA GACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGG GATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTT AGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGA GACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGG GGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTATGGA GGCAGGGATTATGGAGGCAGGGATTAGGGAGGCAGGGATTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTT AGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTATGGAGGC AGGGATTATGGAGGCAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	466	0.0022	719	c.47 others(730): Show c.4770_*4771insTCCCTGCCTCCATAATCCCTGCCTCCATAACCCC GGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATC CCTGCCTCCCTAATCCCTGCCTCCATAATCCCTGCCTCCATAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAA CCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGC CTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCT CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGA CCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGC CTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCC TAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4549		chr11	TogoVar
TRAPPC12_chr2_3374694_3484565	3438060	A A	ATCACCCC others(712): Show ATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAATACCCCATCAC CCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGG ATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAA TCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACC CCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATC ACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCC TGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGA TTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCAGGATTAAT ACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCC ATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAATACCCCATCAC CCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCAGG ATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAA TCCCCCAATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCC CCATCACCCCAGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCAT CAGCCCTGGATTAATACCCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0320 a0002c0007t0001g0320	1	344	0.0029	719	c.141 others(738): Show c.1418-5719_1418-5718insTCACCCCTGAATTAATCCCCCCATCA CCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTG GATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAA TCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCC CCCATCACCCCAGGATTAATACCCCATCACCCCAGGATTAATACCCCATC ACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCCATCACCC CTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGA TTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAA TACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCC CATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCA CCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTG GATTAATACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAA TCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCC CCAATCACCCCTGGATTAATCCCCCATCACCCCAGGATTAATCCCCCAAT CACCCCTGGATTAATCCCCCCATCAGCCCTGGATTAATACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11			chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530406	A A	ATTATATA others(712): Show ATTATATATTATTATATATAATAATATAATATATATTATTATATATTATT ATATATAATAATATAATATATATTATTATATATTATTATATATAATAACA TAATATATATTATTATATATAATTATATATAATAATATAATATATATTAT ATATAATTATATATAATAATATAATATATATTATTATATATAATATTATA TAATAATATAATATATATTATTATATATATTATATAATAATATAATATAT ATTATTATATATTATTATATATAATTATATATAATAATATAATATATATA ATATTATTATATATAATAATATAATATATATTATTATATATTATTATATA TAATAATATAATATATATTATTATATATAATTATATATAATAATATATAT TATATTATTATATATAATTATATATAATAATATATATATTATTATATATA ATTATATATAATATATATATATTATTATATATAATTATATATAATAATAT ATATATATTATTATATATAATTATATATAATAATATATATATATTATTAT ATATTATTATATATAATAATATAATATATATTATATATTATTATATATAA TAATATAATATATATTATATATTATTATATATAATAATATAATATATATA TTATATATTATTATATATAATAATATAATATATATTATTATATATTATTA TATATAATAATATAATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	238	0.0042	719	c.392 others(736): Show c.392+6312_392+6313insATATATTATATTATTATATATAATAATA TATAATAATATATATTATATTATTATATATAATAATATATAATATATATA TTATATTATTATATATAATAATATATAATATATATTATATTATTATATAT AATAATATATAATATATATTATATTATTATATATAATAATATATAATAAT ATATATATATTATTATATATAATTATATATAATAATATATATATATTATT ATATATAATTATATATAATAATATATATATATTATATATAATTATATATA ATAATATATATATTATTATATATAATTATATATAATAATATAATATATAT TATTATATATAATTATATATAATAATATATATTATATTATTATATATAAT AATATATAATAATATATATTATATTATTATATATAATAATATTATATATA TTATATTATTATATATAATTATATATAATAATATATAATAATATATATTA TATTATTATATAATATATATAATAATATATATTATATTATTATATAATAT TATATATAATAATATATATTATATTATTATATATAATTATATATAATATA TATTATATTATTATATATAATTATATATAATAATATATATTATGTTATTA TATATAATAATATATAATAATATATATTATATTATTATATATAATAATAT ATAATAATATATATTATATTATTATATATAATAATATATAA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(712): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCT CCCTTCCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCT CCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCC CTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCT CTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCC TTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCC CTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCT CTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCC CTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCT TTCTCCTCCCTTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0053 a0001c0002t0022g0053	1	202	0.0050	719	c.53 others(730): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGA GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGG GAAGGGAGGGGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTG GAGGAGAGGGGAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAG AGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAG AGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(712): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTACACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAACAACAAAGAAAAAAAAAACAAATGAACA AAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTGT TTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGG CGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTCT TTCTCTTATCATGTCATGATAAAAACTAAAGGGCGGGGCTGGGCACGGTG GCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	274	0.0037	719	c.51 others(730): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTTAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATACT TAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAGC ACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTAG CGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAAA ACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTTT TTTTTTCTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCACCCAGGCTGGAGTGTAGTGGCGCCATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(712): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAACAACAAAGAAAAAAAAAACAAATGAACA AAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTGT TTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGG CGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTCT TTCTCTTATCATGTCATGATAAAAACTAAAGGGCGGGGCTGGGCACGGTG GCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02109.hp2 others(9): Show HG01884.hp2 HG01891.hp2 HG02109.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG03098.hp1 HG03486.hp1 HG03486.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0004 a0003c0006t0001 a0001c0001t0001 a0001c0001t0004 a0003c0006t0001	a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0026 others(5): Show a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0004g0010 a0003c0006t0001g0007 a0003c0006t0001g0049	12	274	0.0438	719	c.51 others(730): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTTAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATACT TAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAGC ACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTAG CGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAAA ACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTTT TTTTTTCTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar

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