Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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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
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(710): Show GGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGAGGGTG GGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAGG GCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGAAG GGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAGGG GGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGAGG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAGGGGG AGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGA GGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGG GGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGGAGGGA GGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGG GGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGGAGGAG GGAGGGGAGAGGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGG GAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGGGGGA GGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAG GTGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	352	0.0028	717	c.12 others(728): Show c.1221_*1222insTCCCGCCACCCCTCCCACCTCCCCCTCCTCTCCC CTCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTC CTCCCCTCCCTCCTCCCCTCCCCCTCTCCCCTCCCTCCTCCCCCTTCGCC TCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCT CCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCT CCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCT CCCCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCC CTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCC CTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTC CCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCT CTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCC CTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTC CCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCT TTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(710): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGG AAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAA GGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGG AGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAGG GGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAG GGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGAGGAGGGA GGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGGAGG GAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAAGG GGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGGAGG AGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGG GGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGGGGG AGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGGGA GGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	717	c.12 others(728): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTC CCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCC CCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCC CCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTC TCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTC CCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCC TCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTC CTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTC CCCTCCCTCCTCCCCCTCTCCCTCCTCTGCCCTCACCTCCCTCCTCCCCC TCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCTTTCC CCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMOC2_chr6_168436184_168672992	168593925	G G	GCCGAGCC others(710): Show GCCGAGCCCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGAT CGCGGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGG ATCGCTGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAG GATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGA GGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAG AGGATGGCCGAGCTCCTCCTCCTTCCTAAGGCCTCACAAGGGGCATCTTT GTAGAGGATCTCTGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTT TCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGCATCT TTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCGCGGGCATC TTTCTAGAGGATCTCCGAGCTCCTCCTTCTTCCTGAGGCCTCACGGGCAT CTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAAGCCTCACGAGCA TCTTTCTAGAGGATGGCCAAGCTCCTCCTCCTTCCTGAGGCCTCACGGGC ATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGG CATCTTTCTAGAGGATCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02135.hp1 HG04184.hp2 others(3): Show HG01346.hp1 HG02135.hp1 HG04184.hp2 NA18951.hp1 NA19065.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154 others(3): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0002t0002g0006 a0001c0002t0002g0031	6	180	0.0333	717	c.638 others(734): Show c.638-4887_638-4886insCCCTCCTCCTTCCTGAGGCCTCACGAGC ATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTCACGGG CATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGG GCATCTTTCTAGAGGATCGCTGAGCTCCTCCTCCTTCCTGAGGCCTCACG GGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAG GGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTAAGGCCTC ACAAGGGGCATCTTTGTAGAGGATCTCTGAGCTCCTCCTCCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCC TCACAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGA GGCCTCGCGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTCCTG AGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCT GAAGCCTCACGAGCATCTTTCTAGAGGATGGCCAAGCTCCTCCTCCTTCC TGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTC CTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPTSSA_chr14_34427788_34467240	34443514	T T	TGTGTGTG others(710): Show TGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTTTTGAGATGGAGTTTCC TCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTCACTGCAACC TCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGAGGGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTTTTGAGATGGAGTTTTCCTCTCATTACCCAGCTGGAGTGCAATGG CACAGTCTTAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTC CTGCTTCTAGGGGAGGGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTT TGTGTGTGTTTTGAGATGGAGTTTCCTCTCATTACCCAGCTGGAGTGCAA TGGCACAGTCTTAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATT CTCCTGCTTCTAGGGGAGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTTTTGAGATGGAGTTTTCCTCTCATT ACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTCACTGCAACCTCTGCCT CCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGAGGATGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTTTGTGTGTGCTTTGAGATGGAGTTTTCCTC TCATTACCCAGCTGGAGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	344	0.0029	717	c.113 others(734): Show c.113-8211_113-8210insCCTCCAGCTGGGTAATGAGAGGAAAACT CCATCTCAAAGCACACACAAACACACACACACACACACACACACACACAC ACATCCTCCCCTAGAAGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGT TGCAGTGAGCTAAGACTGTGCCATTGCACTCCAGCTGGGTAATGAGAGGA AAACTCCATCTCAAAACACACACACACACACACACACACACACACACACA CACACACACACACACACACACCCTCCCCTAGAAGCAGGAGAATCGCTTGA ACCTGGGAGGCAGAGGTTGCAGTGAGCTAAGACTGTGCCATTGCACTCCA GCTGGGTAATGAGAGGAAACTCCATCTCAAAACACACACAAACACACACA CACACACACACACACACACAACACCCTCCCCTAGAAGCAGGAGAATCGCT TGAACCTGGGAGGCAGAGGTTGCAGTGAGCTAAGACTGTGCCATTGCACT CCAGCTGGGTAATGAGAGGAAAACTCCATCTCAAAACACACACACACACA CACACACACACACACACACACACACACACACACACACACACACACACCCT CCCCTAGAAGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTG AGCTAAGACTGTGCCATTGCACTCCAGCTGGGTAATGAGAGGAAACTCCA TCTCAAAACACACACAAACACACACACACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SRXN1_chr20_641615_658200	642043	G G	GGGGAGGC others(710): Show GGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGA GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGGG TTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	422	0.0024	717	c.66 others(728): Show c.6670_*6671insTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACA GGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAG GCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGG CCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCTCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4571		chr20	TogoVar
TMEM178B_chr7_141069064_141485380	141337156	C C	CACCACCA others(710): Show CACCACCACCATCACTACCACCACCACCACCCCCATCACTACCATCATCA TCACCACCACCACCATCACCACCATCACCACCACCACCATCATCACCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAGC ATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAG CATCACCACCACCACCACCACCACCACCACCATCACCACCAGCATCACCA CCATCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ACCACCAGCATCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCATCACCACCAGCATCACCACCATCACCACCACCATCACCACCACCA CCACCACCACCACCACCACCACCACCACCAGCATCACCACCATCACCACC ACCACCACCACCACCACCACCACCACCACCATCACCACCAGCATCACCAC CATCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCA CCATCACCACCACGACCACCACCAGCACCACCACCATCACCACCATCACC ACCACCACCACCATCACT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	80	0.0125	717	c.497 others(738): Show c.497-100451_497-100450insCCACCACCATCACTACCACCACCA CCACCCCCATCACTACCATCATCATCACCACCACCACCATCACCACCATC ACCACCACCACCATCATCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCAGCATCACCACCATCACCACCACCACCAC CACCACCACCACCACCACCACCAGCATCACCACCACCACCACCACCACCA CCACCATCACCACCAGCATCACCACCATCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCACCACCACCAGCATCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCATCACCACCAGCATCACCACCA TCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCAGCATCACCACCATCACCACCACCACCACCACCACCACCACCACCAC CACCATCACCACCAGCATCACCACCATCACCACCACCATCACCACCACCA CCACCACCACCATCACCACCACCACCATCACCACCACGACCACCACCAGC ACCACCACCATCACCACCATCACCACCACCACCACCATCACTA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TOP1MT_chr8_143304324_143339880	143321852	A A	ACACACAC others(710): Show ACACACACAGGCACGCCACACACACAGGCACGCCACACGCACGCCACACA CGCATGCCACACACACGCACGCCACACACGCATGCCACACACAGCCACGC CACACACACACGCCACACACACACAGGCACGCCACACACGCACGCCACAC ACACGCATGCCACACACACACGCCACACACACAGGCACGCCACACACAGG CACGCCACACACGCACGCCACACACGCACGCCACACACGCACGCCACACA CATGCACGCCACACACATGCACGCCACATACGCACGCCACACACGCACGC CACACACGCACGCCACACAAGCACGCCACACACACGCACGCCACACACAC ACGCACGCCACAAACGCACGCCACACACGCACGCCACACACGCACGCCAG CCACACACGCACGCACACACGCACGCCAGCCACACACGCACGCACACACG CACGCCACACGCACGCCACACACGAACGCCACACAAACGCCACACACACG AATGCCACACGCACACCACACACGCACGCCACACACGCACGCCACACACG CACACCACACACAGGCATGCCACACACATGCACGCCACACACAGGCACGC CACACACGCACGCCACACACAGGCATGCCAAACACGCACGCCACACATGC ACGCCACACACACAGGCACACCACACACAGGCACGCCACACACACAGGCA CGCCACACACATGCACGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0003 a0002c0034t0003	a0002c0034t0003g0044 a0002c0034t0003g0044	1	430	0.0023	717	c.961 others(732): Show c.961-467_961-466insGCGTGCATGTGTGTGGCGTGCCTGTGTGTG TGGCGTGCCTGTGTGTGGTGTGCCTGTGTGTGTGGCGTGCATGTGTGGCG TGCGTGTTTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGT GTGGCGTGCATGTGTGTGGCATGCCTGTGTGTGGTGTGCGTGTGTGGCGT GCGTGTGTGGCGTGCGTGTGTGGTGTGCGTGTGGCATTCGTGTGTGTGGC GTTTGTGTGGCGTTCGTGTGTGGCGTGCGTGTGGCGTGCGTGTGTGCGTG CGTGTGTGGCTGGCGTGCGTGTGTGCGTGCGTGTGTGGCTGGCGTGCGTG TGTGGCGTGCGTGTGTGGCGTGCGTTTGTGGCGTGCGTGTGTGTGTGGCG TGCGTGTGTGTGGCGTGCTTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGT GGCGTGCGTATGTGGCGTGCATGTGTGTGGCGTGCATGTGTGTGGCGTGC GTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGC GTGCCTGTGTGTGTGGCGTGTGTGTGTGGCATGCGTGTGTGTGGCGTGCG TGTGTGGCGTGCCTGTGTGTGTGTGGCGTGTGTGTGTGGCGTGGCTGTGT GTGGCATGCGTGTGTGGCGTGCGTGTGTGTGGCATGCGTGTGTGGCGTGC GTGTGGCGTGCCTGTGTGTGTGGCGTGCCTGTGTGTG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TRAF6_chr11_36478769_36515272	36507168	C C	CATACGTA others(710): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAA TGTATAATGTATATATACATGTATTATACATACGTAAATGTATAATGTAT ATATACATTATACATACGTAAATGTATAATGTATAATGTATATATACATT ATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGT ATAATGTATATATACATTATACATACGTAAATGTATAATGTATATATACA TTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAAT GTATAATGTATATATACATTATACATACGTAAATGTATATATATACATTA TACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02647.hp2 HG01928.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0097 a0001c0001t0002g0150 a0001c0001t0001g0097 a0001c0001t0002g0150	2	388	0.0052	717	c.-23 others(734): Show c.-23+2879_-23+2880insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATA TACATTATACATTATACATTTACGTATGTATAATGTATATATACATTATA CATTTACGTATGTATAATACATGTATATATACATTATACATTTACGTATG TATAATACATGTATATATACATATATACATTTACGTATGTATAATACATG TATATATACATATATACATTTACGTATGTATAATACATGTATATATACAT ATATACATTTACGTATGTATAATACATGTATATATACATATATACATTTA CGTATGTATAATACATGTATATATACATATATACATTTACGTATGTATAA TACATGTATATATACATATATACATTTACGTATGTATAATACATGTATAT ATACATATATACATTTACGTATGTATAATACATGTATATATACATATATA CATTTACGTATGTATAATACATGTATATATACATATATACATTTACGTAT GTATAATACATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(710): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATAACATGATGATATGATACTATATCATCA TATAACATGATGATATGATACTATATCATCATATAACATGATGATATGAT ACTATATCATCATATAAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	174	0.0058	717	c.41- others(734): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATAACATGATGATATGATACTATATCATCATATAACA TGATGATATGATACTATATCATCATATAACATGATGATATGATACTATAT CATCATATAACATGATGATATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TWIST2_chr2_238843085_238915534	238870575	C C	CACCACAC others(710): Show CACCACACACACCCCACACACACCACACACACACATCACATACCACACAC CCGACACACGCCACACACACACCATACACCCCCCACACACCACACCCCAC ACACCATACACACCACACACCCCACACACACCACACACCCCACACACACC ACACCCCATACACACCACACCCCACACACACCACACACCCCACACACACC ACACACCCCCACACACACCACACAAACCACACACCCCCACACACACCACA CACACCACACACACCACACCCCATACACACCACACCCCACACACACCACA CACCCCCACACCACACCACACACCCCACACACACCACACCCCCCACACAC ACCACACAAACCACACACCCTACACACCCCCACACACACCACACACCACA CACACCCCACACACACCACACCCCACACACACCACACACCCCCCACACAC ACCACACCCCATACACACCACACCCCCACACACACCACACCCCATACACA CCCACACACCCCACACACACCACACACCCCACACACACCACACCCCCATA CACACCACACCCCCCCACACACCACACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAT ACACACCACACACCCCACACACCACACACACACATCACATACCACACACA CATCACATACCACACACA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0276 a0001c0001t0003g0276	1	338	0.0030	717	c.35 others(736): Show c.35+21842_*35+21843insACCACACACACCCCACACACACCACA CACACACATCACATACCACACACCCGACACACGCCACACACACACCATAC ACCCCCCACACACCACACCCCACACACCATACACACCACACACCCCACAC ACACCACACACCCCACACACACCACACCCCATACACACCACACCCCACAC ACACCACACACCCCACACACACCACACACCCCCACACACACCACACAAAC CACACACCCCCACACACACCACACACACCACACACACCACACCCCATACA CACCACACCCCACACACACCACACACCCCCACACCACACCACACACCCCA CACACACCACACCCCCCACACACACCACACAAACCACACACCCTACACAC CCCCACACACACCACACACCACACACACCCCACACACACCACACCCCACA CACACCACACACCCCCCACACACACCACACCCCATACACACCACACCCCC ACACACACCACACCCCATACACACCCACACACCCCACACACACCACACAC CCCACACACACCACACCCCCATACACACCACACCCCCCCACACACCACAC ACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCATACACACCACACACCCCACACACCACAC ACACACATCACATACCACACACACATCACATACCACACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(710): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAACAACAAAGAAAAAAAAAACAAATGAACAAAA AACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTGTTTC ACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCGT GAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTCTTTC TCTTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCACGGTGGC TCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0015 a0002c0003t0001g0015	1	274	0.0037	717	c.51 others(728): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAA AACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTT TTTTTTTCTTTGTTGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(710): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAACAACAAAGAAAAAAAAAAACAAATGAACAAAA AACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTGTTTC ACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCGT GAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTCTTTC TCTTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCACGGTGGC TCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0015 a0002c0003t0001g0015	1	274	0.0037	717	c.51 others(728): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAA AACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTT TTTTTTTTCTTTGTTGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VPS53_chr17_503668_719839	646603	C C	CGGACTGG others(710): Show CGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTGTGGCCACTG CCTCCTAAGGGTCTTATCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTT AGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGGTC TTATCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACAT CTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATC CACACCACTGACTGGAGATCGGCTCCCACACACATCTCCGTGACCGCGTG GCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGG AGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAA GGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACA CACATCTCCGTGACCGCG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0080 a0001c0005t0080	a0001c0005t0080g0092 a0001c0005t0080g0092	1	232	0.0043	717	c.608 others(734): Show c.608+6687_608+6688insCGCGGTCACGGAGATGTGTGTGGGAGCC AGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCA GTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTG ATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCA CGGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAA GATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGG GAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGG CGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCAC ACGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(710): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCTC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCACACCCCTCCA CCACCAACCACACCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCC GCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCAC CACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCG CGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCCCTCCACCACC AACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCC GCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCA ACCACACCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCG CACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAA CCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCTCC ATCTCTCCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCAC ACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCC CTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0202 a0001c0001t0079g0202	1	346	0.0029	717	c.181 others(738): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTT GGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCG CGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTG GTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGC GGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGG TGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCG GGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGT GGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGGGGG TGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAG GGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGT GTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGG GGTGTGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGG TTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTG CGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(710): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCCTCC TCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTC CCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCC CCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCC CTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCC TCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCC CCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCC CTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCT CCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCC CCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCC CTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCT CTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCC CTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0201 a0002c0003t0001g0201	1	322	0.0031	717	c.4-1 others(730): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCC CCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCT CCTCCCCTTCCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCC TTCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCC CTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCC CCTCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCT CCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTC TCCTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCC CTTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATC TTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCAC CTGTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
AK3_chr9_4704556_4746202	4713900	C C	CTACACAT others(711): Show CTACACATATACACCTCCACATATACACACCTCCACATACACACCTCCAC ATATACACACCTCCACATATACACGCCTCCACATATACACGCCTCCACAT ATACACACCTACACATATACACCTACACATATACACGCCTACACATATAC ACGCCTACACATACACGCCTACACATATACGCCTACACGTATACACCTAC ACGTATACACCTCCACATATACACACCTCCACATATACACACCTCCACAT ATACACACCTCCACATATACACCTGCACATATACACACCTACACATATAC ACCTACACATATACACACCTCCACATATACACCTACACATACACACCTAC ACATATACACCTCCACATATACACACCTACACATATACACCTCCACATAC ACACACCTCCACATATACACACCTACACATACGCCTACACATATACGCCT ACACATATACGCCTACACATATACGCCTACACATATACGCCTACACATAT ACGCCTCCACATATACACACCTCCACATATACACACCTCCACATATACAC ACCTCCACATATATGCCTACACATATACGCCTACACATATACGCCTACAC ATATACACACCTCCACATATACACACCTCCACACCTCCACATATACACAC CTCCACATATACACACCTCCACATATACACACCTCCACATATACGCCTAC ACATATACGCCTACACATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0195 a0001c0001t0011g0195	1	462	0.0022	718	c.564 others(733): Show c.564-805_564-804insTATGTGTAGGCGTATATGTGTAGGCGTATA TGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTGGAGGTGTGTATATG TGGAGGTGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTGTAGGCGTA TATGTGTAGGCGTATATGTGTAGGCATATATGTGGAGGTGTGTATATGTG GAGGTGTGTATATGTGGAGGTGTGTATATGTGGAGGCGTATATGTGTAGG CGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTGTAGGCGTATATG TGTAGGCGTATGTGTAGGTGTGTATATGTGGAGGTGTGTGTATGTGGAGG TGTATATGTGTAGGTGTGTATATGTGGAGGTGTATATGTGTAGGTGTGTA TGTGTAGGTGTATATGTGGAGGTGTGTATATGTGTAGGTGTATATGTGTA GGTGTGTATATGTGCAGGTGTATATGTGGAGGTGTGTATATGTGGAGGTG TGTATATGTGGAGGTGTGTATATGTGGAGGTGTATACGTGTAGGTGTATA CGTGTAGGCGTATATGTGTAGGCGTGTATGTGTAGGCGTGTATATGTGTA GGCGTGTATATGTGTAGGTGTATATGTGTAGGTGTGTATATGTGGAGGCG TGTATATGTGGAGGCGTGTATATGTGGAGGTGTGTATATGTGGAGGTGTG TATGTGGAGGTGTGTATATGTGGAGGTGTATATGTGTA	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
C7orf50_chr7_992006_1143247	1127949	C C	CGTCTGGA others(711): Show CGTCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCACAATCTCGGCTCATCCCACTGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCTCACCGTCTGGAGTGCAGTGGCGC CATCTCGGCTCATCTCACCGTCACCCAGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGG CTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCA TCTCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCTC ACCGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCG TCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCAC CCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGG GCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTG GAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCAGGCTGGAGT GCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAG TGGCACAATCTCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTGGC GCGATCTCGGCTCATCCCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	326	0.0031	718	c.-1- others(731): Show c.-1-564_-1-563insTGGGATGAGCCGAGATCGCGCCACTGCACTCC AGCCCGGGTGACGGTGGGATCAGCCGAGATTGTGCCACTGCACTCCAGCC CGGGTGACGGTGGGATGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGG TGACGGTGGGATGAGCCGAGATCGTGCCACTGCACTCCAGCCCGGGTGAC GGTGGGATGAGCCGAGATGGCGCCACTGCACTCCAGCCCGGGTGACGGTG GGATGAGCCGAGATGGCGCCACTGCACTCCAGCCCGGGTGACGGTGGGAT GAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGTGACGGTGGGATGAGC CGAGATGGCGCCACTGCACTCCAGCCTGGGTGACGGTGAGATGAGCCGAG ATTGTGCCACTGCACTCCAGCCCGGGTGACGGTGAGATGAGCCGAGATGG CGCCACTGCACTCCAGCCCGGGTGACGGTGGGATGAGCCGAGATGGCGCC ACTGCACTCCAGCCCGGGTGACGGTGGGATGAGCCGAGATGGCGCCACTG CACTCCAGCCTGGGTGACGGTGAGATGAGCCGAGATGGCGCCACTGCACT CCAGACGGTGAGATGAGCCGAGATGGCGCCACTGCACTCCAGCCCGGGTG ACAGTGGGATGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGGTGACGG TGGGATGAGCCGAGATGGCGCCACTGCACTCCAGAC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CCDC6_chr10_59783747_59911556	59882544	C C	CGGGGAGA others(711): Show CGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGG GAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGA AGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAA GGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGG GGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAG AAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGG AAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAG GAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGC CGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGA GAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGA AAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGG AAAGCCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCC GCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGG AGAAGGAAAGGAAAGCCAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0032 a0002c0004t0001g0032	1	288	0.0035	718	c.303 others(737): Show c.303+23577_303+23578insCTGGCTTTCCTTTCCTTCTCCCCGGC TTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTC CTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCC TTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCT CCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGG CTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCC TTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCT TCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTC CCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGC CGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGC TTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCT TTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTT CTCCCGCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCC GCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGG CTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CHTF18_chr16_783620_803074	795584	G G	GCCCCCCC others(711): Show GCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCC CCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCA AACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCAC ACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCG CCCCGCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03491.hp2 HG03492.hp1 others(3): Show HG02027.hp1 HG03491.hp2 HG03492.hp1 NA18974.hp2 NA18990.hp2 NA19007.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0029 a0003c0003t0001g0023 a0003c0003t0001g0065 others(1): Show a0001c0001t0001g0029 a0003c0003t0001g0023 a0003c0003t0001g0065 a0003c0003t0001g0070	6	428	0.0140	718	c.217 others(733): Show c.2176-95_2176-94insCAAACACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTT CTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCC CCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCC CAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCA ACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAAC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL5A1_chr9_134636803_134849843	134729816	A A	ATGCGGGC others(711): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGT GAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCGTGTGTGTGTGAGC GTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGT GTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCT GTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCAT GAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGT GTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGG GCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGC GTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGT GAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC GTGTGTGAGCGTGTGTGCG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0187 a0001c0003t0008g0187	1	272	0.0037	718	c.925 others(733): Show c.925-376_925-375insAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCGTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTG TGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTG AGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCG CGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJB6_chr7_157332004_157422439	157369638	T T	TTTCTTCA others(711): Show TTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAAC AGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTAT TAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACATT ATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTTTCATA ACGTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAACAGGCCTT TCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAG GCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATTA AACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTA TTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCA CATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTT CATAACATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGG CCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAA ACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATT ATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACG TTATTATTAAACGGGCCCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0138 a0001c0001t0009g0138	1	372	0.0027	718	c.346 others(735): Show c.346+2381_346+2382insAACATTATTATTAAACAGGCCTTTCATA ACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCC TTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGG GCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATT AAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTA TTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAA CATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTTT CATAACGTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAACAGG CCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAA ACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATT ATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTTAAC ATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTC TTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGC CTTTCATAACATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAA CAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTT	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPEP1_chr16_89608642_89643433	89619512	T T	TCCCTGCC others(711): Show TCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAG CTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCC TCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCC CCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGC TCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCC TCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCC CTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCT CCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCTGCTCCCCT CCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCC TGCTCCCCTCTCTGCAGCC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	250	0.0040	718	c.-10 others(737): Show c.-107+5814_-107+5815insCCTGCAGCTCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCA GCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCC CCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAG CTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAG CTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCTGCTCCC CTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCC CCTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCTGCTCCCCTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619512	T T	TCCCTGCC others(711): Show TCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAG CTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCTCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCT CCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCT CCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCTGCTCCCCT CCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCC TGCTCCCCTCTCTGCAGCC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	250	0.0040	718	c.-10 others(737): Show c.-107+5814_-107+5815insCCTGCAGCTCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCTCTGCAG CCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAG CTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAG CTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCTGCTCCC CTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCC CCTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCTGCTCCCCTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619557	T T	TCCCCTCC others(711): Show TCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCTGCTCCCCTCC CTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCT GCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTC CCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCC TGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCT CCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCCTGCCCCCCGCTCC CCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCA GCTCCCTGCCCCCCTGCTCCCCTGTCTGCAGCCCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	250	0.0040	718	c.-10 others(737): Show c.-107+5842_-107+5843insTCCCTGCAGCTCCATGCCCCCCCGCT CCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCC TGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCC TGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCC CTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCC CTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCC CCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAG CTCCCCTGCCCCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCC CCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTGTCTGCAG CCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ELMO1_chr7_36847906_37453864	36957315	C C	CTGCTCCT others(711): Show CTGCTCCTCCTTTCTGCTTCCAGACCACCATCCTTTTTATTCCCTAACTC CCTGCCCAGTTCCTTTGAGGTGCCTGACATTATACTATCCACTATCCCTC TTTATGGTACTTACTCGCCACAATTCATCGACGATTTTCTTACCCTTCCT TCTCTTTATCATCATTCTTAGTAACTTCAATATCCTCACAGATGATCTAT CCACAAAGTCCTCATGGTGCCCTGAGCTTCTGGTGCAATTTTCACTCTCC CTTCTCCAATCTTGCCCAGCTTATCATGAGAACCACCATAAATACCAGTC CTACAAGTAGCTACATTTAGTGCTGAGTATCCCATTCTCCTGTCTGGAAG CAGTCCTGTCACACCTCTTATTCCTGGGCACCTCAGTCAGGAGCAGGAGC CCAAGACTCCATCCAGCTTATCCCATAACACCCAGGCTTTCACAGATCCA CTGTGTCAAAGGCTCTGCTTACTCCCTAATTTAAGCTCCTATCTCCCCTC TTCTCTACTATCACCAAACCTTTAAAAGGTGCCTTGTGGACCTCAGGGTC TGTCATCAGTAAATTCTCATGTATCTTTTCCAGGCGTTTGCTTCTCTTTC TTGCCCTGACAGAAACCTAGCTGACTCTCCATGCAACTGCTATTCTCTTG CAGCCTCCTAAGTTTTTTGTCCCACACCCTCGGTATTGCTGGTCTTGAAG GCCAGATAGGTGTGCCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02896.hp2 HG02922.hp2 HG02109.hp1 HG02896.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0016 a0001c0002t0009 a0001c0001t0003 a0001c0001t0016 a0001c0002t0009	a0001c0001t0003g0072 a0001c0001t0016g0060 a0001c0002t0009g0069 a0001c0001t0003g0072 a0001c0001t0016g0060 a0001c0002t0009g0069	3	92	0.0326	718	c.143 others(739): Show c.1437+55983_1437+55984insAGAGGCACACCTATCTGGCCTTCA AGACCAGCAATACCGAGGGTGTGGGACAAAAAACTTAGGAGGCTGCAAGA GAATAGCAGTTGCATGGAGAGTCAGCTAGGTTTCTGTCAGGGCAAGAAAG AGAAGCAAACGCCTGGAAAAGATACATGAGAATTTACTGATGACAGACCC TGAGGTCCACAAGGCACCTTTTAAAGGTTTGGTGATAGTAGAGAAGAGGG GAGATAGGAGCTTAAATTAGGGAGTAAGCAGAGCCTTTGACACAGTGGAT CTGTGAAAGCCTGGGTGTTATGGGATAAGCTGGATGGAGTCTTGGGCTCC TGCTCCTGACTGAGGTGCCCAGGAATAAGAGGTGTGACAGGACTGCTTCC AGACAGGAGAATGGGATACTCAGCACTAAATGTAGCTACTTGTAGGACTG GTATTTATGGTGGTTCTCATGATAAGCTGGGCAAGATTGGAGAAGGGAGA GTGAAAATTGCACCAGAAGCTCAGGGCACCATGAGGACTTTGTGGATAGA TCATCTGTGAGGATATTGAAGTTACTAAGAATGATGATAAAGAGAAGGAA GGGTAAGAAAATCGTCGATGAATTGTGGCGAGTAAGTACCATAAAGAGGG ATAGTGGATAGTATAATGTCAGGCACCTCAAAGGAACTGGGCAGGGAGTT AGGGAATAAAAAGGATGGTGGTCTGGAAGCAGAAAGGAGGAGCA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	36957315	C C	CTGCTCCT others(711): Show CTGCTCCTCCTTTCTGCTTCCAGACCACCATCCTTTTTATTCCCTAACTC CCTGCCCAGTTCCTTTGAGGTGCCTGACATTATACTATCCACTATCCCTC TTTATGGTACTTACTCGCCACAATTCATCGACGATTTTCTTACCCTTCCT TCTCTTTATCATCATTCTTAGTAACTTCAATATCCTCACAGATGATCTAT CCACAAAGTTCTCATGGTGCCCTGAGCTTCTGGTGCAATTTTCACTCTCC CTTCTCCAATCTTGCCCAGCTTATCATGAGAACCACCATAAATACCAGTC CTACAAGTAGCTACATTTAGTGCTGAGTATCCCATTCTCCTGTCTGGAAG CAGTCCTGTCACACCTCTTATTCCTGGGCACCTCAGTCAGGAGCAGGAGC CCAAGACTCCATCCAGCTTATCCCATAACACCCAGGCTTTCACAGATCCA CTGTGTCAAAGGCTCTGCTTACTCCCTAATTTAAGCTCCTATCTCCCCTC TTCTCTACTATCACCAAACCTTTAAAAGGTGCCTTGTGGACCTCAGGGTC TGTCATCAGTAAATTCTCATGTATCTTTTCCAGGCGTTTGCTTCTCTTTC TTGCCCTGACAGAAACCTAGCTGACTCTCCATGCAACTGCTATTCTCTTG CAGCCTCCTAAGTTTTTTGTCCCACACCCTCGGTATTGCTGGTCTTGAAG GCCAGATAGGTGCGCCTCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	92	0.0109	718	c.143 others(739): Show c.1437+55983_1437+55984insAGAGGCGCACCTATCTGGCCTTCA AGACCAGCAATACCGAGGGTGTGGGACAAAAAACTTAGGAGGCTGCAAGA GAATAGCAGTTGCATGGAGAGTCAGCTAGGTTTCTGTCAGGGCAAGAAAG AGAAGCAAACGCCTGGAAAAGATACATGAGAATTTACTGATGACAGACCC TGAGGTCCACAAGGCACCTTTTAAAGGTTTGGTGATAGTAGAGAAGAGGG GAGATAGGAGCTTAAATTAGGGAGTAAGCAGAGCCTTTGACACAGTGGAT CTGTGAAAGCCTGGGTGTTATGGGATAAGCTGGATGGAGTCTTGGGCTCC TGCTCCTGACTGAGGTGCCCAGGAATAAGAGGTGTGACAGGACTGCTTCC AGACAGGAGAATGGGATACTCAGCACTAAATGTAGCTACTTGTAGGACTG GTATTTATGGTGGTTCTCATGATAAGCTGGGCAAGATTGGAGAAGGGAGA GTGAAAATTGCACCAGAAGCTCAGGGCACCATGAGAACTTTGTGGATAGA TCATCTGTGAGGATATTGAAGTTACTAAGAATGATGATAAAGAGAAGGAA GGGTAAGAAAATCGTCGATGAATTGTGGCGAGTAAGTACCATAAAGAGGG ATAGTGGATAGTATAATGTCAGGCACCTCAAAGGAACTGGGCAGGGAGTT AGGGAATAAAAAGGATGGTGGTCTGGAAGCAGAAAGGAGGAGCA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	36957315	C C	CTGCTCCT others(711): Show CTGCTCCTCCTTTCTGCTTCCAGACCACCATCCTTTTTATTCCCTAACTC CCTGCCCAGTTCCTTTGAGGTGCCTGACATTATACTATCCACTATCCCTC TTTATGGTACTTACTCGCCACAATTCATCGACGATTTTCTTACTCTTCCT TCTCTTTATCATCATTCTTAGTAACTTCAATATCCTCACAGATGATCTAT CCACAAAGTCCTCATGGTGCCCTGAGCTTCTGGTGCAATTTTCACTCTCC CTTCTCCAATCTTGCCCAGCTTATCATGAGAACCACCATAAATACCAGTC CTACAAGTAGCTACATTTAGTGCTGAGTATCCCATTCTCCTGTCTGGAAG CAGTCCTGTCACACCTCTTATTCCTGGGCACCTCAGTCAGGAGCAGGAGC CCAAGACTCCATCCAGCTTATCCCATAACACCCAGGCTTTCACAGATCCA CTGTGTCAAAGGCTCTGCTTACTCCCTAATTTAAGCTCCTATCTCCCCTC TTCTCTACTATCACCAAACCTTTAAAAGGTGCCTTGTGGACCTCAGGGTC TGTCATCAGTAAATTCTCATGTATCTTTTCCAGGCATTTGCTTCTCTTTC TTGCCCTGACAGAAACCTAGCTGACTCTCCATGCAACTGCTATTCTCTTG CAGCCTCCTAAGTTTTTTGTCCCACACCCTCGGTATTGCTGGTCTTGAAG GCCAGATAGGTGTGCCTCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02818.hp1 HG02965.hp2 others(1): Show HG01192.hp1 HG02818.hp1 HG02965.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0006 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007	a0001c0001t0001g0090 a0001c0002t0003g0013 a0001c0002t0006g0021 others(1): Show a0001c0001t0001g0090 a0001c0002t0003g0013 a0001c0002t0006g0021 a0001c0002t0007g0018	4	92	0.0435	718	c.143 others(739): Show c.1437+55983_1437+55984insAGAGGCACACCTATCTGGCCTTCA AGACCAGCAATACCGAGGGTGTGGGACAAAAAACTTAGGAGGCTGCAAGA GAATAGCAGTTGCATGGAGAGTCAGCTAGGTTTCTGTCAGGGCAAGAAAG AGAAGCAAATGCCTGGAAAAGATACATGAGAATTTACTGATGACAGACCC TGAGGTCCACAAGGCACCTTTTAAAGGTTTGGTGATAGTAGAGAAGAGGG GAGATAGGAGCTTAAATTAGGGAGTAAGCAGAGCCTTTGACACAGTGGAT CTGTGAAAGCCTGGGTGTTATGGGATAAGCTGGATGGAGTCTTGGGCTCC TGCTCCTGACTGAGGTGCCCAGGAATAAGAGGTGTGACAGGACTGCTTCC AGACAGGAGAATGGGATACTCAGCACTAAATGTAGCTACTTGTAGGACTG GTATTTATGGTGGTTCTCATGATAAGCTGGGCAAGATTGGAGAAGGGAGA GTGAAAATTGCACCAGAAGCTCAGGGCACCATGAGGACTTTGTGGATAGA TCATCTGTGAGGATATTGAAGTTACTAAGAATGATGATAAAGAGAAGGAA GAGTAAGAAAATCGTCGATGAATTGTGGCGAGTAAGTACCATAAAGAGGG ATAGTGGATAGTATAATGTCAGGCACCTCAAAGGAACTGGGCAGGGAGTT AGGGAATAAAAAGGATGGTGGTCTGGAAGCAGAAAGGAGGAGCA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	36957315	C C	CTGCTCCT others(711): Show CTGCTCCTCCTTTCTGCTTCCAGACCACCATCCTTTTTATTCCCTAACTC CCTGCCCAGTTCCTTTGAGGTGCCTGACATTATACTATCCACTATCCCTC TTTATGGTACTTACTCGCCACAATTCATCGACGATTTTCTTACTCTTCCT TCTCTTTATCATCATTCTTAGTAACTTCAATATCCTCACAGATGATCTAT CCACAAAGTCCTCATGGTGCCCTGAGCTTCTGGTGCAATTTTCACTCTCC CTTCTCCAATCTTGCCCAGCTTATCATGAGAACCACCATAAATACCAGTC CTACAAGTAGCTACATTTAGTGCTGAGTATCCCATTCTCCTGTCTGGAAG CAGTCCTGTCACACCTCTTATTCCTGGGCACCTCAGTCAGGAGCAGGAGC CCAAGACTCCATCCAGCTTATCCCATAACACCCAGGCTTTCACAGATCCA CTGTGTCAAAGGCTCTGCTTACTCCCTAATTTAAGCTCCTATCTCCCCTC TTCTCTACTATCACCAAACCTTTAAAAGGTGCCTTGTGGACCTCAGGGTC TGTCATCAGTAAATTCTCATGTATCTTTTCCAGGCGTTTGCTTCTCTTTC TTGCCCTGACAGAAACCTAGCTGACTCTCCATGCAACTGCTATTCTCTTG CAGCCTCCTAAGTTTTTTGTCCCACACCCTCGGTATTGCTGGTCTTGAAG GCCAGATAGGTGTGCCTCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19240.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0007 a0001c0001t0003 a0001c0002t0007	a0001c0001t0003g0065 a0001c0002t0007g0001 a0001c0001t0003g0065 a0001c0002t0007g0001	2	92	0.0217	718	c.143 others(739): Show c.1437+55983_1437+55984insAGAGGCACACCTATCTGGCCTTCA AGACCAGCAATACCGAGGGTGTGGGACAAAAAACTTAGGAGGCTGCAAGA GAATAGCAGTTGCATGGAGAGTCAGCTAGGTTTCTGTCAGGGCAAGAAAG AGAAGCAAACGCCTGGAAAAGATACATGAGAATTTACTGATGACAGACCC TGAGGTCCACAAGGCACCTTTTAAAGGTTTGGTGATAGTAGAGAAGAGGG GAGATAGGAGCTTAAATTAGGGAGTAAGCAGAGCCTTTGACACAGTGGAT CTGTGAAAGCCTGGGTGTTATGGGATAAGCTGGATGGAGTCTTGGGCTCC TGCTCCTGACTGAGGTGCCCAGGAATAAGAGGTGTGACAGGACTGCTTCC AGACAGGAGAATGGGATACTCAGCACTAAATGTAGCTACTTGTAGGACTG GTATTTATGGTGGTTCTCATGATAAGCTGGGCAAGATTGGAGAAGGGAGA GTGAAAATTGCACCAGAAGCTCAGGGCACCATGAGGACTTTGTGGATAGA TCATCTGTGAGGATATTGAAGTTACTAAGAATGATGATAAAGAGAAGGAA GAGTAAGAAAATCGTCGATGAATTGTGGCGAGTAAGTACCATAAAGAGGG ATAGTGGATAGTATAATGTCAGGCACCTCAAAGGAACTGGGCAGGGAGTT AGGGAATAAAAAGGATGGTGGTCTGGAAGCAGAAAGGAGGAGCA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	36957315	C C	CTGCTCCT others(711): Show CTGCTCCTCCTTTCTGCTTCCAGACCACCATCCTTTTTATTCCCTAACTC CCTGCCCAGTTCCTTTGAGGTGCCTGACATTATACTATCCACTATCCCTC TTTATGGTACTTACTCGCCACAATTCATCGACGATTTTCTTACTCTTCCT TCTCTTTATCATCATTCTTAGTAACTTCAATATCCTCACAGATGATCTAT CCACAAAGTCCTCATGGTGCCCTGAGCTTCTGGTGCAATTTTCACTCTCC CTTCTCCAATCTTGCCCAGCTTATCATGAGAACCACCATAAATACCAGTC CTACAAGTAGCTACATTTAGTGTTGAGTATCCCATTCTCCTGTCTGGAAG CAGTCCTGTCACACCTCTTATTCCTGGGCACCTCAGTCAGGAGCAGGAGC CCAAGACTCCATCCAGCTTATCCCATAACACCCAGGCTTTCACAGATCCA CGGTGTCAAAGGCTCTGCTTACTCCCTAATTTAAGCTCCTATCTCCCCTC TTCTCTACTATCACCAAACCTTTAAAAGGTGCCTTGTGGACCTCAGGGTC TGTCATCAGTAAATTCTCATGTATCTTTTCCAGGCGTTTGCTTCTCTTTC TTGCCCTGACAGAAACCTAGCTGACTCTCCATGCAACTGCTATTCTCTTG CAGCCTCCTAAGTTTTTTGTCCCACACCCTCGGTATTGCTGGTCTTGAAG GCCAGATAGGTGCGCCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18906.hp2 NA21309.hp2 HG02109.hp2 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0015 a0001c0002t0007 a0001c0001t0002 a0001c0001t0015 a0001c0002t0007	a0001c0001t0002g0002 a0001c0001t0015g0061 a0001c0002t0007g0064 a0001c0001t0002g0002 a0001c0001t0015g0061 a0001c0002t0007g0064	3	92	0.0326	718	c.143 others(739): Show c.1437+55983_1437+55984insAGAGGCGCACCTATCTGGCCTTCA AGACCAGCAATACCGAGGGTGTGGGACAAAAAACTTAGGAGGCTGCAAGA GAATAGCAGTTGCATGGAGAGTCAGCTAGGTTTCTGTCAGGGCAAGAAAG AGAAGCAAACGCCTGGAAAAGATACATGAGAATTTACTGATGACAGACCC TGAGGTCCACAAGGCACCTTTTAAAGGTTTGGTGATAGTAGAGAAGAGGG GAGATAGGAGCTTAAATTAGGGAGTAAGCAGAGCCTTTGACACCGTGGAT CTGTGAAAGCCTGGGTGTTATGGGATAAGCTGGATGGAGTCTTGGGCTCC TGCTCCTGACTGAGGTGCCCAGGAATAAGAGGTGTGACAGGACTGCTTCC AGACAGGAGAATGGGATACTCAACACTAAATGTAGCTACTTGTAGGACTG GTATTTATGGTGGTTCTCATGATAAGCTGGGCAAGATTGGAGAAGGGAGA GTGAAAATTGCACCAGAAGCTCAGGGCACCATGAGGACTTTGTGGATAGA TCATCTGTGAGGATATTGAAGTTACTAAGAATGATGATAAAGAGAAGGAA GAGTAAGAAAATCGTCGATGAATTGTGGCGAGTAAGTACCATAAAGAGGG ATAGTGGATAGTATAATGTCAGGCACCTCAAAGGAACTGGGCAGGGAGTT AGGGAATAAAAAGGATGGTGGTCTGGAAGCAGAAAGGAGGAGCA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	36957315	C C	CTGCTCCT others(711): Show CTGCTCCTCCTTTCTGCTTCCAGACCACCATCCTTTTTATTCCCTAACTC CCTGCCCAGTTCCTTTGAGGTGCCTGACATTATACTATCCACTATCCCTC TTTATGGTACTTACTCGCCACAATTCATCGACGATTTTCTTACTCTTCCT TCTCTTTATCATCATTCTTAGTAACTTCAATATCCTCACAGATGATCTAT CCACAAAGTCCTCATGGTGCCCTGAGCTTCTGGTGCAATTTTCACTCTCC CTTCTCCAATCTTGCCCAGCTTATCATGAGAACCACCATAAATACCAGTC CTACAAGTAGCTACATTTAGTGTTGAGTATCCCATTCTCCTGTCTGGAAG CAGTCCTGTCACACCTCTTATTCCTGGGCACCTCAGTCAGGAGCAGGAGC CCAAGACTCCATCCAGCTTATCCCATAACACCCAGGCTTTCACAGATCCA CGGTGTCAAAGGCTCTGCTTACTCCCTAATTTAAGCTCCTATCTCCCCTC TTCTCTACTATCACCAAACCTTTAAAAGGTGCCTTGTGGACCTCAGGGTC TGTCATCAGTAAATTCTCATGTATCTTTTCCAGGCGTTTGCTTCTCTTTC TTGCCCTGACAGAAACCTAGCTGACTCTCCATGCAACTGCTATTCTCTTG CAGCCTCCTAAGTTTTTTGTCCCACACCCTCGGTATTGCTGGTCTTGAAG GCCAGATAGGTGTGCCTCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	92	0.0109	718	c.143 others(739): Show c.1437+55983_1437+55984insAGAGGCACACCTATCTGGCCTTCA AGACCAGCAATACCGAGGGTGTGGGACAAAAAACTTAGGAGGCTGCAAGA GAATAGCAGTTGCATGGAGAGTCAGCTAGGTTTCTGTCAGGGCAAGAAAG AGAAGCAAACGCCTGGAAAAGATACATGAGAATTTACTGATGACAGACCC TGAGGTCCACAAGGCACCTTTTAAAGGTTTGGTGATAGTAGAGAAGAGGG GAGATAGGAGCTTAAATTAGGGAGTAAGCAGAGCCTTTGACACCGTGGAT CTGTGAAAGCCTGGGTGTTATGGGATAAGCTGGATGGAGTCTTGGGCTCC TGCTCCTGACTGAGGTGCCCAGGAATAAGAGGTGTGACAGGACTGCTTCC AGACAGGAGAATGGGATACTCAACACTAAATGTAGCTACTTGTAGGACTG GTATTTATGGTGGTTCTCATGATAAGCTGGGCAAGATTGGAGAAGGGAGA GTGAAAATTGCACCAGAAGCTCAGGGCACCATGAGGACTTTGTGGATAGA TCATCTGTGAGGATATTGAAGTTACTAAGAATGATGATAAAGAGAAGGAA GAGTAAGAAAATCGTCGATGAATTGTGGCGAGTAAGTACCATAAAGAGGG ATAGTGGATAGTATAATGTCAGGCACCTCAAAGGAACTGGGCAGGGAGTT AGGGAATAAAAAGGATGGTGGTCTGGAAGCAGAAAGGAGGAGCA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	36957383	G G	GGTGCCTG others(711): Show GGTGCCTGACATTATACTATCCACTATCCCTCTTTATGGTACTTACTCGC CACAATTCATCGACGATTTTCTTACTCTTCCTTCTCTTTATCATCATTCT TAGTAACTTCAATATCCTCACAGATGATCTATCCACAAAGTCCTCATGGT GCCCTGAGCTTCTGGTGCAATTTTCACTCTCCCTTCTCCAATCTTGCCCA GCTTATCATGAGAACCACCATAAATACCAGTCCTACAAGTAGCTACATTT AGTGCTGAGTATCCCATTCTCCTGTCTGGAAGCAGTCCTGTCACACCTCT TATTCCTGGGCACCTCAGTCAGGAGCAGGAGCCCAAGACTCCATCCAGCT TATCCCATAACACCCAGGCTTTCACAGATCCACGGTGTCAAAGGCTCTGC TTACTCCCTAATTTAAGCTCCTATCTCCCCTCTTCTCTACTATCACCAAA CCTTTAAAAGGTGCCTTGTGGACCTCAGGGTCTGTCATCAGTAAATTCTC ATGTATCTTTTCCAGGCGTTTGCTTCTCTTTCTTGCCCTGACAGAAACCT AGCTGACTCTCCATGCAACTGCTATTCTCTTGCAGCCTCCTAAGTTTTTT GTCCCACACCCTCGGTATTGCTGGTCTTGAAGGCCAGATAGGTGTGCCTC TTGCTCCTCCTTTCTGCTTCCAGACCACCGCCCTTTTTACTCCCTAACCC CCTGCCCAGTTCCTCTGAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02896.hp1 HG03195.hp1 HG02630.hp2 HG02896.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0017 a0001c0002t0006 a0001c0001t0013 a0001c0001t0017 a0001c0002t0006	a0001c0001t0013g0078 a0001c0001t0017g0012 a0001c0002t0006g0014 a0001c0001t0013g0078 a0001c0001t0017g0012 a0001c0002t0006g0014	3	92	0.0326	718	c.143 others(739): Show c.1437+55915_1437+55916insTTCAGAGGAACTGGGCAGGGGGTT AGGGAGTAAAAAGGGCGGTGGTCTGGAAGCAGAAAGGAGGAGCAAGAGGC ACACCTATCTGGCCTTCAAGACCAGCAATACCGAGGGTGTGGGACAAAAA ACTTAGGAGGCTGCAAGAGAATAGCAGTTGCATGGAGAGTCAGCTAGGTT TCTGTCAGGGCAAGAAAGAGAAGCAAACGCCTGGAAAAGATACATGAGAA TTTACTGATGACAGACCCTGAGGTCCACAAGGCACCTTTTAAAGGTTTGG TGATAGTAGAGAAGAGGGGAGATAGGAGCTTAAATTAGGGAGTAAGCAGA GCCTTTGACACCGTGGATCTGTGAAAGCCTGGGTGTTATGGGATAAGCTG GATGGAGTCTTGGGCTCCTGCTCCTGACTGAGGTGCCCAGGAATAAGAGG TGTGACAGGACTGCTTCCAGACAGGAGAATGGGATACTCAGCACTAAATG TAGCTACTTGTAGGACTGGTATTTATGGTGGTTCTCATGATAAGCTGGGC AAGATTGGAGAAGGGAGAGTGAAAATTGCACCAGAAGCTCAGGGCACCAT GAGGACTTTGTGGATAGATCATCTGTGAGGATATTGAAGTTACTAAGAAT GATGATAAAGAGAAGGAAGAGTAAGAAAATCGTCGATGAATTGTGGCGAG TAAGTACCATAAAGAGGGATAGTGGATAGTATAATGTCAGGCAC	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
FLT3_chr13_27998274_28105576	27998945	T T	TTATATGC others(711): Show TTATATGCATATACATATTATTTATATGCATATAAATATATATTTATATA CATATAAATATATATGTATATACATATAAATATATGTATATACATATAAA TATATATGTATATACATATAAATATATATGTATATACATATATATATGTA TATACATATATATATATGTATATACATATATATATGTATATACATATATA TATATGTATATACATATAAATATATATGTATATACATATAAATATATATG TATATACATATAAATATATATGTATATACATATAAATATATATGTATGTA TATTATATACATATAAATATATATATTTATATACATATAAATATATATAT TTATATACATATAAATATATATATTTATATACATATAAATATATATATTT ATATACATATAAATATATATATTTATATACATATAAATATATATTTATAT ACATATAAATATATATTTATATACATATAAATATATATTTATATACATAT AAATATATATTTACATACATATAAATATATATTTACATACATATAAATAT ATACATTTATATACATATAAATATATACATATATACATATAAATATATAT TTATATACATATAAATATATATATTTATATATATTTATATATATATAAAT ATATATATATTTATATATATATAAATATATATATATTTATATATATATAA ATATATATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0101	1	292	0.0034	718	c.51 others(729): Show c.5106_*5107insTATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATATA AATATATATAAATATATATATTTATATGTATATAAATATATATTTATATG TATATATGTATATATTTATATGTATATAAATGTATATATTTATATGTATG TAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAAATATATATATTTATATGTATATAATATACATACATATATAT TTATATGTATATACATATATATTTATATGTATATACATATATATTTATAT GTATATACATATATATTTATATGTATATACATATATATATATGTATATAC ATATATATATGTATATACATATATATATATGTATATACATATATATATGT ATATACATATATATTTATATGTATATACATATATATTTATATGTATATAC ATATATTTATATGTATATACATATATATTTATATGTATATAAATATATAT TTATATGCATATAAATAATATGTATATGCATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4328		chr13	TogoVar
FTCD_chr21_46131779_46160579	46144472	C C	CTCCCCCC others(711): Show CTCCCCCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCC CTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCC CTCCCCTTCCCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCC TCCCCTCACCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCCCTC CCTCTCCCTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCTCTCCCCCTCTC CCTCTTTCTCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCC CCCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTC CCCCTCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCC CTCCCCCTCCCTCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTG TCTCCCCCTCTCCCCCCCTCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCC TCCCTCTCTCCCCCTGCCCTCTCTCCCCCCTCCCTCTCTCCCCCCTCCCC CTCTTCCCCTCCCTCTCTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTT CTCCCTCTCTCCCCCCCTTTCCCTCCCTCTCCCTCTCTCTCCCTCTCCCC CCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTC CCCTCTCTCCCACCCTCTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01069.hp1 HG01346.hp2 others(1): Show HG00140.hp2 HG01069.hp1 HG01346.hp2 HG01517.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0005 a0004c0008 a0001c0001 a0002c0005 a0004c0008	a0001c0001t0001 a0002c0005t0001 a0004c0008t0007 a0001c0001t0001 a0002c0005t0001 a0004c0008t0007	a0001c0001t0001g0085 a0002c0005t0001g0194 a0004c0008t0007g0015 others(1): Show a0001c0001t0001g0085 a0002c0005t0001g0194 a0004c0008t0007g0015 a0004c0008t0007g0079	4	230	0.0174	718	c.126 others(735): Show c.1260+944_1260+945insCAGAGGGTGGGAGAGAGGGGAGGAAGGA AAGGGGGGAAAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGGGGGGAGAGG GAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGAGAGAGGGAGAAGGAGGTG GGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGAGGGGAAGAGGGGGAGGGG GGAGAGAGGGAGGGGGGAGAGAGGGCAGGGGGAGAGAGGGAGGGGGGAGA GGGAGAGGGGGGAGAGAAGGAGAGGGGGGGAGAGGGGGAGACAGGGAGGA AGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGGAGGGGGAGGGAGAGAGA GGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAGAGGGGGAGGGAGAG AGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAGGGGGAGGGAGA GAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGGAGAAAGAGGGAGAGGGGG AGAGGGGGAGAGAGGGAGAGGGAGGGAGGGGGAGGGAGAGGGAGGGAGAG AGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGGTGAGGGGAGGGAGGGAG AGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGGAAGGGGAGGGAGGGAGA GGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGG GGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGGGGGA	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GALNT9_chr12_132191372_132334589	132241351	C C	CCTTCCCG others(711): Show CCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTC CCGGGACCCTCCCTATACCAATTACACACACAACACACACCCTTCCAGGG GCCCTCCCTATACCCATTACACACATGCCACACCCCCTTCCCAGGGCCCT CCCTATCCCCATTACACACACAACACACCCCCTTCCAGGGGCCCTCCCTA TACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCC ATTACACACACACCACACACCCTTCCAGGGGCCCTCCCTATACCCATTAC ACACACGCCACACACCCTTCCCTTGGCCGTCCCTATACCCATTACACACA CGCCACACCACCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCA CACACCCTTACAGGGGCCCTCCCTATACCCATTACACACACGCCACACCC CCTTCCTGGGGACCTCCCTATACCCATTACACACACGCCACACACCCTTC CCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCAGG GACCTCCCTATCCCCATTACACACACGCCACACCCCCTTCCCGGGGCCCT CCCAATACCCATTAAACACACAACACACCCCCTTCCCGGGGCCCTCCCTA TCCCCATTAAACACACAACACACCCCCTTCCCAGGGCCCTCCCTATACCC ATTACACACACAACACACA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03453.hp2 NA21309.hp1 HG03209.hp2 HG03453.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0051 a0001c0001t0001g0143 a0001c0001t0011g0050 a0001c0001t0001g0051 a0001c0001t0001g0143 a0001c0001t0011g0050	3	183	0.0164	718	c.107 others(737): Show c.1077+6558_1077+6559insTGTGTGTTGTGTGTGTAATGGGTATA GGGAGGGCCCTGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAG GGCCCCGGGAAGGGGGTGTGTTGTGTGTTTAATGGGTATTGGGAGGGCCC CGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGTCCCTGGGA AGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGT GTGTGGCGTGTGTGTAATGGGTATAGGGAGGTCCCCAGGAAGGGGGTGTG GCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGTAAGGGTGTGTGGCGTG TGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGTGGTGTGGCGTGTGTGT AATGGGTATAGGGACGGCCAAGGGAAGGGTGTGTGGCGTGTGTGTAATGG GTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAATGGGTATA GGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAG GGCCCCTGGAAGGGGGTGTGTTGTGTGTGTAATGGGGATAGGGAGGGCCC TGGGAAGGGGGTGTGGCATGTGTGTAATGGGTATAGGGAGGGCCCCTGGA AGGGTGTGTGTTGTGTGTGTAATTGGTATAGGGAGGGTCCCGGGAAGGGT GTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241351	C C	CCTTCCCG others(711): Show CCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTC CCGGGACCCTCCCTATACCAATTACACACACAACACACACCCTTCCAGGG GCCCTCCCTATACCCATTACACACATGCCACACCCCCTTCCCAGGGCCCT CCCTATCCCCATTACACACACAACACAGCCCCTTCCAGGGGCCCTCCCTA TACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCC ATTACACACACACCACACACCCTTCCAGGGGCCCTCCCTATACCCATTAC ACACACGCCACACACCCTTCCCTTGGCCGTCCCTATACCCATTACACACA CGCCACACCACCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCA CACACCCTTACAGGGGCCCTCCCTATACCCATTACACACACGCCACACCC CCTTCCTGGGGACCTCCCTATACCCATTACACACACGCCACACACCCTTC CCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCAGG GACCTCCCTATCCCCATTACACACACGCCACACCCCCTTCCCGGGGCCCT CCCTATACCCATTAAACACACAACACACCCCCTTCCCGGGGCCCTCCCTA TCCCCATTAAACACACAACACACCCCCTTCCCAGGGCCCTCCCTATACCC ATTACACACACAACACACA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0108 a0001c0007t0010g0108	1	183	0.0055	718	c.107 others(737): Show c.1077+6558_1077+6559insTGTGTGTTGTGTGTGTAATGGGTATA GGGAGGGCCCTGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAG GGCCCCGGGAAGGGGGTGTGTTGTGTGTTTAATGGGTATAGGGAGGGCCC CGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGTCCCTGGGA AGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGT GTGTGGCGTGTGTGTAATGGGTATAGGGAGGTCCCCAGGAAGGGGGTGTG GCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGTAAGGGTGTGTGGCGTG TGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGTGGTGTGGCGTGTGTGT AATGGGTATAGGGACGGCCAAGGGAAGGGTGTGTGGCGTGTGTGTAATGG GTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAATGGGTATA GGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAG GGCCCCTGGAAGGGGCTGTGTTGTGTGTGTAATGGGGATAGGGAGGGCCC TGGGAAGGGGGTGTGGCATGTGTGTAATGGGTATAGGGAGGGCCCCTGGA AGGGTGTGTGTTGTGTGTGTAATTGGTATAGGGAGGGTCCCGGGAAGGGT GTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241695	C C	CACACACG others(711): Show CACACACGCCACACACCCTTCCCGGGACCCTCCCTATACCAATTACACAC ACAACACACACCCTTCCAGGGGCCCTCCCTATACCCATTACACACATGCC ACACTCCCTTCCCAGGGCCCTCCCTATCCCCATTACACACACAACACACC CCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTT CCCGGGGCCCTCCCTATACCCATTACACACACACCACACACCCTTCCAGG GGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCTTGGCCG TCCCTATACCCATTACACACACGCCACACCACCTTCCCGGGGCCCTCCCT ATACCCATTACACACACGCCACACACCCTTACAGGGGCCCTCCCTATACC CATTACACACACGCCACACCCCCTTCCTGGGGACCTCCCTATACCCATTA CACACACGCCACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACAC ACGCCACACCCCCTTCCCAGGGACCTCCCTATCCCCATTACACACACGCC ACACCCCCTTCCCGGGGCCGTCCCTATACCCATTACACACACGCCACACA CCCTTCCCGGGGCCCTCCCTATCCCCATTAAACACACAACACACACCCTT CCCGGGGCCCTCCCTATACCCATTACACACACAACACACACTTCCCGGGG CCCTCCCTATACCCATTAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	183	0.0055	718	c.107 others(737): Show c.1077+6214_1077+6215insTTAATGGGTATAGGGAGGGCCCCGGG AAGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTG TGTGTTGTGTGTTTAATGGGGATAGGGAGGGCCCCGGGAAGGGTGTGTGG CGTGTGTGTAATGGGTATAGGGACGGCCCCGGGAAGGGGGTGTGGCGTGT GTGTAATGGGGATAGGGAGGTCCCTGGGAAGGGGGTGTGGCGTGTGTGTA ATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGG TATAGGGAGGTCCCCAGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAG GGAGGGCCCCTGTAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGTGGTGTGGCGTGTGTGTAATGGGTATAGGGACGGCCAA GGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAA GGGTGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGG TGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGT TGTGTGTGTAATGGGGATAGGGAGGGCCCTGGGAAGGGAGTGTGGCATGT GTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGTTGTGTGTGTA ATTGGTATAGGGAGGGTCCCGGGAAGGGTGTGTGGCGTGTGT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GNG13_chr16_793041_805734	795584	G G	GCCCCCCC others(711): Show GCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCC CCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCA AACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCAC ACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCG CCCCGCCCCTCCCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG03491.hp1 HG03492.hp2 others(3): Show HG02027.hp1 HG03491.hp1 HG03492.hp2 NA18965.hp1 NA18990.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0001 a0001c0001t0001g0041	6	422	0.0142	718	c.31 others(729): Show c.3134_*3135insGGGGAGGGGAGGGGCGGGGCGGGGCGGCACGGGG CCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCAC ACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGC AGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGT TTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTG GGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGG GGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGG GCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAA GGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGG CACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCA CGGGGCCGGGGGCAGCCACACGGGCAGCACAGGGGGGCGGGCACGGGGCC GGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2456		chr16	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(711): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATAAATATATATATTTATATATAAA TATATATATTTATATATATATTTATATATAAATATATATATTTATATATA AATATATATATAAATATATATATTTATATATATAAATATATATATATTTA TATTTACAAATATATATATTTATATATATATTTATATTTATATATATTTA TATTTATATATATATATAAATATATATTTATGTATATTTATATATAAATA TAAATATATATTTATATATAAATATAAATATATATTTATATATAAATATA AATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	208	0.0048	718	c.-97 others(735): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATATTTATATATAAATATATATATTT ATATATAAATATATATATAAATATATATATTTATATATATAAATATATAT ATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATAT ATATTTATATTTATATATATATATAAATATATATTTATGTATATTTATAT ATAAATATAAATATATATTTATATATAAATATAAATATATATTTATATAT AAATATAAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(711): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATATAAA TATATATATTTATATATAAATATATATATTTATATATAAATATATATATA AATATATATATTTATATATAAATATATATATTTATATATATATTTATATA TAAATATATATATTTATATATAAATATATATATAAATATATATATTTATA TATATAAATATATATATATTTATATTTACAAATATATATATTTATATATA TATTTATATTTATATATATTTATATTTATATATATATATATAAATATATA TTTATGTATATTTATATATAAATATAAATATATATTTATATATAAATATA AATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	208	0.0048	718	c.-97 others(735): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATATAAATATATATATTTATATATAAATATATATATTTATATATAAATAT ATATATAAATATATATATTTATATATAAATATATATATTTATATATATAT TTATATATAAATATATATATTTATATATAAATATATATATAAATATATAT ATTTATATATATAAATATATATATATTTATATTTACAAATATATATATTT ATATATATATTTATATTTATATATATTTATATTTATATATATATATATAA ATATATATTTATGTATATTTATATATAAATATAAATATATATTTATATAT AAATATAAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(711): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATATAAATATATATATTTATATATAAA TATACATAAATATATATTTATGTATATTTATATATAAATATATATATTTA TATATATAAATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATATATAAATATATATATTTATATATAAATATATATATTTATA TATATATTTATATATAAATATATATATTTATATATAAATATATATATTTA TATATATAAATATATATATTTATATATATAAATATATATATATTTATATT TACAAATATATATATTTATATATATATTTATATTTATATATATTTATATT TATATATATATATATAAATATATATTTATGTATATTTATATATAAATATA AATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	208	0.0048	718	c.-97 others(735): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATATAAATATATATATTTAT ATATAAATATACATAAATATATATTTATGTATATTTATATATAAATATAT ATATTTATATATATAAATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATATATAAATATATATATTTATATATAAATATATAT ATTTATATATATATTTATATATAAATATATATATTTATATATAAATATAT ATATTTATATATATAAATATATATATTTATATATATAAATATATATATAT TTATATTTACAAATATATATATTTATATATATATTTATATTTATATATAT TTATATTTATATATATATATATAAATATATATTTATGTATATTTATATAT AAATATAAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(711): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGC AGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGG AGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAAACGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGG GCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGAAACGGGCA GGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAG GGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGG CAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0052 a0002c0002t0001g0052	1	204	0.0049	718	c.978 others(735): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCA GGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGA GAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG ATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATG GGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAG GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGG CAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAG GGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAC GGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(711): Show TAAGAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0108 a0002c0003t0001g0108	1	308	0.0033	718	c.127 others(737): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(711): Show TCCTCTCCCTCCTCCTCTCCCTCTCCCTCCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCTCCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCTCTCCCTGT CCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTC TCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	370	0.0027	718	c.-27 others(729): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG GAGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGGAGGGAGAGGGAGAGGAGGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LHPP_chr10_124456823_124619141	124610989	C C	CGGGTGAG others(711): Show CGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGT GTTGACGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGTGGGTGAGGGTGA GGGTGCTGATGGAGCGGGTGCGGGTGAGGGTGAGGGTGCTGATGGAGCGG GTGAGGGTGCTGGTGGAGCGGGGTGCGGGTGCGGGTGCAGGTGAGGGTGC TGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGG GTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGAG GGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGG TGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGAGGGTGCTG ATGGAGCGGGCGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGT GAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGC GGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTG AGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCG GGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGCGGGTGAGGGTGC TGATGGAGTGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGG GTGTTGACGGAGCGGGTGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	260	0.0039	718	c.717 others(735): Show c.717-2264_717-2263insCGGGTGAGGGTGCTGATGGAGCGGGTGA GGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGTGG GTGAGGGTGAGGGTGCTGATGGAGCGGGTGCGGGTGAGGGTGAGGGTGCT GATGGAGCGGGTGAGGGTGCTGGTGGAGCGGGGTGCGGGTGCGGGTGCAG GTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATGGA GCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGG TGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAG CGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGT GAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGAGGGTGCTGA TGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTG CTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAG GGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGT TGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGCGG GTGAGGGTGCTGATGGAGTGGGTGAGGGTGAGGGTGTTGACGGAGCGGGT GAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(711): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCCC CCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCT CCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGC CCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCCT CCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCC TCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGG GCTCCTGGCGAGTGTGCCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGC GAGTGTGCCCCCCACGCCT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0081 a0081	a0081c0061 a0081c0061	a0081c0061t0003 a0081c0061t0003	a0081c0061t0003g0100 a0081c0061t0003g0100	1	292	0.0034	718	c.218 others(733): Show c.2189-97_2189-96insAGGCGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCA CACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGGCACACTCGCCAGGAG CCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGG AGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGG CACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCC AGGAGCCTATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAG GAGGCGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGG GGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTC GCCAGGAGCCTATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGT GAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGG GGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCA GGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGG AGGTGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(711): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTAAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAAGAACCCATGGATTGAAACATGTTTAATGTGTTTCAATCCAA TGCAGTTGCCTTTTTTTTTTTTTTTTCAGACGGAGTCTCGCTCTGTCGCC AGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCC GGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACTACAG GCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGACGGGG TTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGC CTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGCC CAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTTTGGA TAAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGTGCGGTGGCTCACAC CTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA19240.hp1 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0039 a0001c0001t0011g0039	2	438	0.0046	718	c.39 others(729): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGA CTCCGTCTGAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAACACA TTAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTCTGGC TCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTTACGGCAACC TCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCCTCCC GAGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATTTTGGTA TTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAATT CCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(711): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAAGAACCCATGGATTGAAACATGTTTAATGTGTTTCAATCCAA TGCAGTTGACTTTTTTTTTTTTTTTTCAGACGGAGTCTCGCTCTGTCGCC AGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCC GGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACTACAG GCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGACGGGG TTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGC CTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGCC CAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTTTGGA TAAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGTGCGGTGGCTCACAC CTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	438	0.0023	718	c.39 others(729): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGA CTCCGTCTGAAAAAAAAAAAAAAAAGTCAACTGCATTGGATTGAAACACA TTAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTCTGGC TCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACGGCAACC TCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCCTCCC GAGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATTTTGGTA TTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAATT CCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(711): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAAGAACCCATGGATTGAAACATGTTTAATGTGTTTCAATCCAA TGCAGTTGCCTTTTTTTTTTTTTTTTCAGACGGAGTCTCGCTCTGTCGCC AGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCC GGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACTACAG GCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGACGGGG TTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGC CTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGCC CAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTTTGGA TAAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGTGCGGTGGCTCACAC CTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00438.hp2 others(88): Show HG00099.hp1 HG00280.hp1 HG00438.hp2 HG00597.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01106.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01978.hp1 HG02080.hp2 HG02109.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03834.hp1 HG03927.hp2 HG04204.hp2 HG04228.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18948.hp1 NA18951.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18965.hp1 NA18977.hp2 NA18982.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19059.hp1 NA19062.hp2 NA19063.hp2 NA19070.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0019 a0002c0002t0005 a0003c0003t0003	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0070 others(24): Show a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0070 a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0074 a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0043 a0001c0001t0003g0054 a0001c0001t0003g0093 a0001c0001t0003g0097 a0001c0001t0004g0005 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0025 a0001c0001t0006g0012 a0001c0001t0006g0075 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0008g0067 a0001c0001t0008g0096 a0001c0001t0010g0106 a0001c0001t0019g0109 a0002c0002t0005g0024 a0002c0002t0005g0053 a0003c0003t0003g0033	91	438	0.2078	718	c.39 others(729): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGA CTCCGTCTGAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAACACA TTAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTCTGGC TCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACGGCAACC TCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCCTCCC GAGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATTTTGGTA TTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAATT CCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(711): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAGAACCCATGGATTGAAACATGTTTAATGTGTTTCAATCCAAT GCAGTTGCCTTTTTTTTTTTTTTTTTCAGACGGAGTCTCGCTCTGTCGCC AGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCC GGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACTACAG GCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGACGGGG TTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGC CTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCGCC CAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTTTGGA TAAATTGCTGTTTTAAAGCAATACAGAGGGCCAGGTGCGGTGGCTCACAC CTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	438	0.0023	718	c.39 others(729): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTATTGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGA CTCCGTCTGAAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAACAC ATTAAACATGTTTCAATCCATGGGTTCTTTTTTTTAAGACGGAGTCTGGC TCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACGGCAACC TCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCCTCCC GAGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATTTTGGTA TTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAATT CCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(711): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCT CCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTC TCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCTC CTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCC TCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	140	0.0071	718	c.114 others(737): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTC CCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar

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Search Results (Total: 8931 hits)