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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FHIT_chr3_59742277_61256452	60551574	G G	GAGGGGAG others(663): Show GAGGGGAGGAGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGG GAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAAGAAGGGGAGGGGAGG AGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAG AAGGGGAGGGGAGGGGAGGGGAGCGGGGAGGAGGGGAGGGGGAGGAGGGG AGGGGAGGGGAGGGGGAGGAGGAGAGGGGAGGGGAGCGGGGAGGAGGGGA GGGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGGGAGGGGAGGGGGAGG AGGGGAGGGGGGGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGGAGG GGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAGCGGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGAGG GGAGCGGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGAGGGGAGCG GGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGAG GGGAGGGGGAGGAGGGGAGGGGGGGAGGGGAGGGGGAGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGG AGGGGGGAGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0038 a0001c0003t0004g0038	1	46	0.0217	670	c.-17 others(689): Show c.-17-14596_-17-14595insTCCCCTCCCCTCCTCCCCCCTCCTCC CCCTCCCCTCCCCTCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCTCCCCCTCCCCTCCCCCCCTCCCCTCCTCCCCCTCCCCTCCT CCCCCTCCCCTCCCCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTC CCCTCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCCCTCC CCTCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCTCC CCCTCCCCTCCCCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCCTCCCC TCCTCCCCGCTCCCCTCCCCTCTCCTCCTCCCCCTCCCCTCCCCTCCCCT CCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCTCCCCTCCCCTTCTTCC CCTCCCCTCCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCC CCTCCCCTTCTTCCCCTCCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTC CCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	4/9			chr3	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTCC others(663): Show TCCCCTCCCCTCCCTCCCTCTCCCCCCTCTCCCTCCCCTTTCCCCCCTCT CCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCTTCCCCCCTCTC CCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCCTCACCCCCCTCCC TCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCTCTCCCTCCCCCTC CCTCCCTCTCCCTCTCTCCCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCC GCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCC CGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCTCTCTCC CCTCTCTCCATCCTCCCCTCTCTTCCTCCTGTCTCCCCCTCTCCCCCCCT CTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTGCCC CTCTCTCCCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCT CCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCCCC TTTCCCTCCCTCTCCCTCTCTCTCCCTCTCCCCCCTCCCCCCTCTCCCTC TCCCCCCCTCCCTCTTTCCCCCTTTCCTTCCTCCCCTCTCTCCCACCCTC TGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0180 a0001c0021t0001g0180	1	230	0.0044	670	c.126 others(687): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGAAAGAGGGAGGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGAGAGGGAGAGGGAGGGAAAGGGGGGG GAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGG GAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAGAGAGGGGCAGG GGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGG GAGAGGGGGAGACAGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGA GGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGA GAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGG AGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGGAGAGGGAGGGAGGGGG AGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGG GGGTGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGG GGGAAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGG GGAAAGGGGAGGGAGAGGGGGGAGAGGGAGGGAGGGGAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GAK_chr4_844277_937316	927397	A A	ACCCCTCC others(663): Show ACCCCTCCCAGCTCACCTGCGCTCCGCACTGCCCCACACCCCTCCCCGCT CACCTGCGCTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCG CACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCAC CCCTCCCGGCTCACCTGCGGTCCCCCACTGCCTCGCACCCCTCCCCGCTC ACCTGCAGTCCCCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGC ACTGCCCCACACCCCTCCCGGCTCACCTGCGCTCCGCACTGCCCCGCACC CCTCCCGGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCGGCTCAC CTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCAC TGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCCCCACTGCCTCGCACCC CTCCCCGCTCACCTGCGGTCCCCACTGCCCCGCACCCCTCCCCGCTCACC TGCAGTCCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGCTCCGCACT GCCCCGCACCCCTCCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCC TCCCGGCTCACCTGCAGTCCGCACTGCCCCACACCCCTCCCGGCTCACCT GCGCTCCGCACTGCCCCGCAC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0058 a0001c0004t0001g0058	1	390	0.0026	670	c.145 others(687): Show c.145+4645_145+4646insGTGCGGGGCAGTGCGGAGCGCAGGTGAG CCGGGAGGGGTGTGGGGCAGTGCGGACTGCAGGTGAGCCGGGAGGGGTGC GGGGCAGTGCGGAGCGCAGGTGAGCGGGGGAGGGGTGCGGGGCAGTGCGG AGCGCAGGTGAGCCGGGAGGGGTGTGGGGCAGTGCGGACTGCAGGTGAGC GGGGAGGGGTGCGGGGCAGTGGGGACCGCAGGTGAGCGGGGAGGGGTGCG AGGCAGTGGGGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGA CCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCC GGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCCGGGAGGGGTGCGG GGCAGTGCGGAGCGCAGGTGAGCCGGGAGGGGTGTGGGGCAGTGCGGACT GCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGGGGACTGCAGGTGAGCGGG GAGGGGTGCGAGGCAGTGGGGGACCGCAGGTGAGCCGGGAGGGGTGCGGG GCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCG CAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGG AGGGGTGTGGGGCAGTGCGGAGCGCAGGTGAGCTGGGAGGGG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GALNT9_chr12_132191372_132334589	132242842	C C	CGGGGCCA others(663): Show CGGGGCCATCCCTATACCCATTACACACACGCCACACACCCTTCCCAGGG CCGTCCCTATACCCATTACAAACACAACACACACCCTTCCAGGGGCCCTC CCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCGTCCCTAT CCCCATTACACACACACCACACACCCTTCCCGGGGCCCTCCCTATACCCA TTACACACACACCACACCCCCTTCCCGGGGCCCTCCCTATACCTATTGCA CACACAACACACACTTCCCGGGGCCCTCCCTATACCCATTACACACACGC CACACACCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACAC CCCCTTCCCGGGGCCGTCCCTATCCCCATTACACACACGCCACACCCCCT TCCCGGGGCCCTCCCTATACCCATTTACACACACCACGCACCCTTCCCGG GGCCCTCCCTATACCCATTACACACACACCACACCCCCTTCCCGGGGCCC TCCCTATACCCATTGCACACACAACACACACTTCCCGGGGCCCTCCCTAT ACCCATTACACACACGCCACACACCCTTCCAGGGGCCCTCCCTATACCCA TTACACACACGCCACACACCCTTCCCAGGGCCGTCCCTATACCTATTACA CACACAACACACACCCTTCCA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0124 a0001c0013t0004g0124	1	183	0.0055	670	c.107 others(689): Show c.1077+5067_1077+5068insTGGAAGGGTGTGTGTTGTGTGTGTAA TAGGTATAGGGACGGCCCTGGGAAGGGTGTGTGGCGTGTGTGTAATGGGT ATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGG GAGGGCCCCGGGAAGTGTGTGTTGTGTGTGCAATGGGTATAGGGAGGGCC CCGGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGG AAGGGTGCGTGGTGTGTGTAAATGGGTATAGGGAGGGCCCCGGGAAGGGG GTGTGGCGTGTGTGTAATGGGGATAGGGACGGCCCCGGGAAGGGGGTGTG GCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTG TGTGTAATGGGTATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTGCAA TAGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGTGTGTAATGGGT ATAGGGAGGGCCCCGGGAAGGGTGTGTGGTGTGTGTGTAATGGGGATAGG GACGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGG CCCCTGGAAGGGTGTGTGTTGTGTTTGTAATGGGTATAGGGACGGCCCTG GGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGATGGCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GCH1_chr14_54837017_54907826	54903940	T T	TGAGTAGC others(663): Show TGAGTAGCTGGTATTACAGGCACATGCCACCACATGAGGCTGATTTTTGT ATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTTGAAC TCCTGACCTCAGGTGATCCAACCGCCTCGGCCTCCCAAAGTGCTAGGATT ACAGGCGTGAGCCACCTCGCCCGGCCATTAATATTTTATTTGTTTCAGAG TTTTGTTTTTTGTTTTTTTTTCTTTTTTTGAGACGGAGTTTTGCTCTTGT TGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACCGCAACCTCCGC CTGCCGGGTTCAAGCTTTTCTCCTGCCTCAGCCTCCCAAGTTACTGGGAT TACAGGTGCCTGCCACCATGCCCGGCTAATTTTTTTGTATTTTTTGTAGA GACAGGGTTTCACCATGTTGGCCAGGTTGGTCTGGAACTCCTGATCTCAG GTGATTCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGC CACTGCGCCTGGCCTGTTTTGGAGTCTAATGTTGATTTTCTTTTTCTTTC TTTCTTTTTTTTTGAGATGGAGTTTCGCTCTTGTAACCCAGGCTGGAGTG CAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCG ATTCTCCTGCCTCAGCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show HG01496.hp1 HG02257.hp1 HG02280.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0021g0012	4	346	0.0116	670	c.-12 others(681): Show c.-1278_-1277insGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGG GAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGG GTTACAAGAGCGAAACTCCATCTCAAAAAAAAAGAAAGAAAGAAAAAGAA AATCAACATTAGACTCCAAAACAGGCCAGGCGCAGTGGCTCACGCCTATA ATCCCAGCACTTTGGGAGGCTGAGGCAGGTGAATCACCTGAGATCAGGAG TTCCAGACCAACCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAATA CAAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAATCCCAGTAACTT GGGAGGCTGAGGCAGGAGAAAAGCTTGAACCCGGCAGGCGGAGGTTGCGG TGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAAC TCCGTCTCAAAAAAAGAAAAAAAAACAAAAAACAAAACTCTGAAACAAAT AAAATATTAATGGCCGGGCGAGGTGGCTCACGCCTGTAATCCTAGCACTT TGGGAGGCCGAGGCGGTTGGATCACCTGAGGTCAGGAGTTCAAGACCAAC CTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGCC TCATGTGGTGGCATGTGCCTGTAATACCAGCTACTC	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding		1115		chr14	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(663): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(23): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01516.hp2 HG02040.hp1 HG02040.hp2 HG02300.hp2 HG02559.hp1 HG02630.hp1 HG03017.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18951.hp2 NA18960.hp1 NA18986.hp2 NA19004.hp1 NA19058.hp1 NA19063.hp1 NA19065.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0015	26	422	0.0616	670	c.31 others(681): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAG TGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGT TTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTG GGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGG GGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGG GAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(663): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCTTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18978.hp2 NA19003.hp2 others(2): Show NA18954.hp2 NA18978.hp2 NA19003.hp2 NA19009.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	422	0.0119	670	c.31 others(681): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGTTTGGGGGGGAGGGGCAAGGGGCCGGGGGCAGCC ACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAG TGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGT TTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTG GGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGG GGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGG GAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(663): Show TGCTGCCCGTGTGGCTGCCCCCGGGCCCCGTGCCCCTCCCCCCCAAACAC ACTGCCCGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCGTGTGGCTGCCCCCGGCCC CGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGCTGCCCCCGGCCCCGT GCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCCGTGC CCTTCTCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0045 a0001c0001t0022g0045	1	422	0.0024	670	c.31 others(681): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGGAGAAGGGCACGGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGCACGGGGCCGGGGG CAGCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAG CCACACGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGT GTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG TTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTT GGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGG GGGGGGGGGCACGGGGCCGGGGGCAGCCACGGGCAGTGTGTTTGGGGGGG AGGGGCACGGGGCCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(663): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATAAATATATATATTTATATATAAA TATATATATTTATATATATATTTATATATAAATATATATATTTATATATA AATATATATATTTATATATATAAATATATATATTTATATATATAAATATA TATATAAATATATATATTTATATATATATTTATATTTATATATATTTATA TTTATATATATATATATAAATATATATTTATGTATATTTATATATAAATA TAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02922.hp2 HG01517.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0140 a0001c0001t0004g0181 a0001c0001t0001g0140 a0001c0001t0004g0181	2	208	0.0096	670	c.-97 others(687): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATATTTATATATAAATATATATATTT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT AAATATATATATAAATATATATATTTATATATATATTTATATTTATATAT ATTTATATTTATATATATATATATAAATATATATTTATGTATATTTATAT ATAAATATAAATATATATTTATATATAAATATAAATATATAT	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(663): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATC TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATAAATATATATATTTATATATAAA TATATATATTTATATATATATTTATATATAAATATATATATTTATATATA AATATATATATTTATATATATAAATATATATATTTATATATATAAATATA TATATAAATATATATATTTATATATATATTTATATTTATATATATTTATA TTTATATATATATATATAAATATATATTTATGTATATTTATATATAAATA TAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG01256.hp1 others(1): Show HG00642.hp1 HG01099.hp1 HG01256.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0001t0001g0135 others(1): Show a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0003g0096	4	208	0.0192	670	c.-97 others(687): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATCTATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATATTTATATATAAATATATATATTT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT AAATATATATATAAATATATATATTTATATATATATTTATATTTATATAT ATTTATATTTATATATATATATATAAATATATATTTATGTATATTTATAT ATAAATATAAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRM3_chr7_86638909_86869879	86655539	C C	CAAAAATT others(663): Show CAAAAATTAGTATGCCTAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAA AAAAAAAAAAAAAAAAAAAAAAAAGAAAACGTGGTACATATACATAACGG AATACTGTGAAGCCATAAAAAGGAATACCACCATGGAATACTATGCAGCC ATAAAAAGGAACAAGATCATGTCCTTTGTAGGGACATGGATGGAACTGGA AGCCATTATCCTCAGCAAACTAATAAAGGGGACACAAAACCAAACACCGC ATGTTCTCACTTATAAGTGGGAGCTGAACAATGAGAACATATGGACACAG GGAGGGGAACAACACACACTGGGGCCTGTTTGGGGGTGGGGTGGGAGGAG GGAGAGCATTAGGAAAAATAGCTAATGCATGCTGGGTTTAATACCTAGGT GATGGGTTGACAGGTGCAGCAAATCACCATGGCACGTTTACCTATGTAAC AAACCTGCATATCCTGCACATGTACCCTGGAACTTAAAATAAAACAATGC ACAACCTTTCCCAAAGAAAGTTTTCTTCCAGAATTCATAAAGAAAGGTTT CTTTGGGAAATGTTGTGCATTGGTATTTAAATAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0067 a0001c0005t0011g0067	1	216	0.0046	670	c.-14 others(691): Show c.-141+10685_-141+10686insCGCACCAGCATGGCACATGTATAC ATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTA TAATAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAACGTGGTACATATAC ATAACGGAATACTGTGAAGCCATAAAAAGGAATACCACCATGGAATACTA TGCAGCCATAAAAAGGAACAAGATCATGTCCTTTGTAGGGACATGGATGG AACTGGAAGCCATTATCCTCAGCAAACTAATAAAGGGGACACAAAACCAA ACACCGCATGTTCTCACTTATAAGTGGGAGCTGAACAATGAGAACATATG GACACAGGGAGGGGAACAACACACACTGGGGCCTGTTTGGGGGTGGGGTG GGAGGAGGGAGAGCATTAGGAAAAATAGCTAATGCATGCTGGGTTTAATA CCTAGGTGATGGGTTGACAGGTGCAGCAAATCACCATGGCACGTTTACCT ATGTAACAAACCTGCATATCCTGCACATGTACCCTGGAACTTAAAATAAA ACAATGCACAACCTTTCCCAAAGAAAGTTTTCTTCCAGAATTCATAAAGA AAGGTTTCTTTGGGAAATGTTGTGCATTGGTATTTAAATAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGTATGCCTAG	GRM3	ENSG00000198822.11	transcript	ENST00000361669.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
HAUS2_chr15_42543838_42574994	42557401	T T	TATATATA others(663): Show TATATATAGTATATATTTTATATATATTATATATTTTATATATAGTATAT ATTTTATATATAATATATATTTTATATATAATATATATATTTTATATATA ATATATATTATATATATATTATATAAAATATATAATATATATTATATATA TATTATATAAAATATATAATATATATTTTATATATATCATATATTTTATA TATAATATATATTTTATATATATCATATATTTTATATATAATATATATTA TATATACATTATATAATATATATTATATACATTATATATTATATAATATA TATTATATATTATACGTAATATATAATGTATATTATATATAATATATTAT GTATATAATGTATATTATATATAATATACATTATATATAATGTATATTAT ATGTAATATACACATTATATATAATGTATATTATATGTAATATACACATT ATATATAATGTATATTATATGTAATATACACATTATATATAATGTATATT ATATGTAATATACACATTATATATAATGTATATTATATGTAATATACACA TTATATATAATGTATATTATATGTAATATATACATTATATATAATGTATA TTATATGTAATATATACATTATATAATGTATATTATATGTAATATATACA TTATATAATGTATATTATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0300 a0001c0002t0004g0300	1	350	0.0029	670	c.94- others(683): Show c.94-790_94-789insGTATATATTTTATATATATTATATATTTTATA TATAGTATATATTTTATATATAATATATATTTTATATATAATATATATAT TTTATATATAATATATATTATATATATATTATATAAAATATATAATATAT ATTATATATATATTATATAAAATATATAATATATATTTTATATATATCAT ATATTTTATATATAATATATATTTTATATATATCATATATTTTATATATA ATATATATTATATATACATTATATAATATATATTATATACATTATATATT ATATAATATATATTATATATTATACGTAATATATAATGTATATTATATAT AATATATTATGTATATAATGTATATTATATATAATATACATTATATATAA TGTATATTATATGTAATATACACATTATATATAATGTATATTATATGTAA TATACACATTATATATAATGTATATTATATGTAATATACACATTATATAT AATGTATATTATATGTAATATACACATTATATATAATGTATATTATATGT AATATACACATTATATATAATGTATATTATATGTAATATATACATTATAT ATAATGTATATTATATGTAATATATACATTATATAATGTATATTATATGT AATATATACATTATATAATGTATATTATATAATATATA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
IFNAR1_chr21_33319970_33364864	33323138	T T	TATATATG others(663): Show TATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTAT GGAATATATATATGGAATATATACGTATGGAATATATATATATGGAATAT ACGTATGGAATATATATATATGGAATATACGTATGGAATATATATATATG GAATATACGTATGGAATATATATATATGGAATATATATGTATGGAATATA TATATGGAATATATATGTATGGAATATATGTATGGAATATATATGTATGG AATATATATGTATGGAATATATATGTATGGAATATATATATGGAATATAT ATGTATGGAATATATATATGGAATATATATGTATGGAATATATATATGGA ATATATATGTATGGAATATATATATGGAATATATATGTATGGAATATACA TATGGAATATATATGTTTGGAATATATATATATGGAATATATATGTATGG AATATATATATATGGAATATATGTATGGAATATATATATGGAATATATGT ATGGAATATATATATATGGAATATATGTATGGAATATATATATATGGAAT ATATGTATGGAATATATATATATGGAATATATGTATGGAATATATATATG GAATATATGTATGGAATATATATATGGAATATATGTATATGGAATATATA TATGGAATATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0220 a0002c0002t0002g0220	1	323	0.0031	670	c.-19 others(681): Show c.-1918_-1917insATATATGGAATATATACGTATGGAATATATATAT GGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAATAT ATATATATGGAATATACGTATGGAATATATATATATGGAATATACGTATG GAATATATATATATGGAATATACGTATGGAATATATATATATGGAATATA TATGTATGGAATATATATATGGAATATATATGTATGGAATATATGTATGG AATATATATGTATGGAATATATATGTATGGAATATATATGTATGGAATAT ATATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATG GAATATATATATGGAATATATATGTATGGAATATATATATGGAATATATA TGTATGGAATATACATATGGAATATATATGTTTGGAATATATATATATGG AATATATATGTATGGAATATATATATATGGAATATATGTATGGAATATAT ATATGGAATATATGTATGGAATATATATATATGGAATATATGTATGGAAT ATATATATATGGAATATATGTATGGAATATATATATATGGAATATATGTA TGGAATATATATATGGAATATATGTATGGAATATATATATGGAATATATG TATATGGAATATATATATGGAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1831		chr21	TogoVar
KCNG2_chr18_79792938_79905100	79795224	T T	TGAGAGAC others(663): Show TGAGAGACACGGGACTGATTTACGGGATCACAGGGGAAGAAAAACACACA CGAGGCCTGCCCACGTCCGAGAGACACGGGACCGATTTACGGGATCACAG GGGGAGAAAAACACACTTGAGGCCTGTCCACATCTGAGAGACACGGGACT GATTTACGGGATCAGAGAGGGAGAGAAACACACTTGAGGCCTGTCCACGT CTGAGAGACACGGGACTGATTTACGGGATCACAGGGGGAGAAAAACACAC ACGAGGCCTGCCCACGTCCGAGAGACACGGGACCGATTTACGGGATCACA GGGGGAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGAC TGATTTACGGGATCAGAGAGGGAGAGAAACACACTTGAGGCCTGTCCACG TCTGAGAGACACGGGACTGATTTACGGGATCACAGGGGGAGAAAAACACA CACGAGGCCTGCCCACGTCCGAGAGACACGGGACCGATTTACGGGATCAC AGGGGGAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGA CCGATTTACGGGATCACAGGGGGAGAAAAACACACACGAGGCCTGCCCAC GTCCGAGAGACACGGGACCGATTTACGGGATCACAGGGGGAGAAAAACAC ACACGAGGCCTGCCCACGTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG03098.hp1 HG02647.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0298 a0001c0001t0001g0299	2	312	0.0064	670	c.-29 others(681): Show c.-2905_-2904insGAGAGACACGGGACTGATTTACGGGATCACAGGG GAAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGACCGA TTTACGGGATCACAGGGGGAGAAAAACACACTTGAGGCCTGTCCACATCT GAGAGACACGGGACTGATTTACGGGATCAGAGAGGGAGAGAAACACACTT GAGGCCTGTCCACGTCTGAGAGACACGGGACTGATTTACGGGATCACAGG GGGAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGACCG ATTTACGGGATCACAGGGGGAGAAAAACACACACGAGGCCTGCCCACGTC CGAGAGACACGGGACTGATTTACGGGATCAGAGAGGGAGAGAAACACACT TGAGGCCTGTCCACGTCTGAGAGACACGGGACTGATTTACGGGATCACAG GGGGAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGACC GATTTACGGGATCACAGGGGGAGAAAAACACACACGAGGCCTGCCCACGT CCGAGAGACACGGGACCGATTTACGGGATCACAGGGGGAGAAAAACACAC ACGAGGCCTGCCCACGTCCGAGAGACACGGGACCGATTTACGGGATCACA GGGGGAGAAAAACACACACGAGGCCTGCCCACGTCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding		2713		chr18	TogoVar
KLHDC4_chr16_87702812_87770986	87738936	C C	CACACCAG others(663): Show CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACC TCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCAT CCATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CACCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACC AGCATCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCA CCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTC ATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTCATCC ATCCACACACCAGTATCTCAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	380	0.0026	670	c.507 others(687): Show c.507-8293_507-8292insATGAGATACTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGT GTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGG TGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGT GCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGT GTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGG ATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87738936	C C	CACACCAG others(663): Show CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCA CCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCCC ATCCATCCACACACCAGCACCTCATCCATCCACACACCAGTATCTCATCC ACACACCAGCACCTCATCCAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0179 a0002c0002t0002g0179	1	380	0.0026	670	c.507 others(687): Show c.507-8293_507-8292insATGGATGAGGTGCTGGTGTGTGGATGAG ATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGGGATGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGG TGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGT GTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGG ATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87738936	C C	CACACCAG others(663): Show CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACC AGCACCTCATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCA CCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCCC ATCCATCCACACACCAGCACCTCATCCATCCACACACCAGTATCTCATCC ACACACCAGCACCTCATCCAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0157 a0002c0002t0001g0157	1	380	0.0026	670	c.507 others(687): Show c.507-8293_507-8292insATGGATGAGGTGCTGGTGTGTGGATGAG ATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGGGATGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGT GGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGG TGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGT GTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGG ATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87738936	C C	CACACCAG others(663): Show CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCA CCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCCC ATCCATCCACACACCAGCACCTCATCCATCCACACACCAGTATCTCATCC ACACACCAGCACCTCATCCAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00558.hp1 others(33): Show HG00280.hp2 HG00423.hp1 HG00558.hp1 HG00673.hp2 HG00735.hp1 HG01168.hp2 HG01261.hp2 HG01928.hp2 HG02027.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02273.hp1 HG02683.hp1 HG03017.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG04199.hp1 HG06807.hp2 NA18906.hp2 NA18959.hp1 NA18966.hp1 NA18982.hp1 NA18984.hp2 NA18987.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19065.hp2 NA19070.hp1 NA19081.hp2 NA19087.hp1 NA19089.hp2 NA21309.hp2	a0001 a0002 a0011 others(2): Show a0001 a0002 a0011 a0012 a0013	a0001c0001 a0002c0002 a0011c0012 others(2): Show a0001c0001 a0002c0002 a0011c0012 a0012c0032 a0013c0031	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0011c0012t0002 a0012c0032t0001 a0013c0031t0001	a0001c0001t0001g0141 a0002c0002t0001g0160 a0002c0002t0001g0167 others(33): Show a0001c0001t0001g0141 a0002c0002t0001g0160 a0002c0002t0001g0167 a0002c0002t0001g0197 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0212 a0002c0002t0001g0214 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0263 a0002c0002t0001g0277 a0002c0002t0001g0285 a0002c0002t0002g0129 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0155 a0002c0002t0002g0162 a0002c0002t0002g0166 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0173 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0182 a0002c0002t0002g0206 a0002c0002t0002g0208 a0002c0002t0002g0252 a0002c0002t0002g0276 a0011c0012t0002g0216 a0012c0032t0001g0213 a0013c0031t0001g0093	36	380	0.0947	670	c.507 others(687): Show c.507-8293_507-8292insATGGATGAGGTGCTGGTGTGTGGATGAG ATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGGGATGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGG TGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGT GTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGG ATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(663): Show CAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGC TCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGAT GGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTA AAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACA ATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGT TTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAAT TCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTG AGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCA GTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATC ATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGT AATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAA GGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGC AAGGCTCTGTCTAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02818.hp1 HG03239.hp1 others(5): Show HG02273.hp1 HG02818.hp1 HG03239.hp1 HG03239.hp2 NA18946.hp2 NA18992.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0076 a0001c0001t0001g0108 a0001c0001t0001g0150 others(5): Show a0001c0001t0001g0076 a0001c0001t0001g0108 a0001c0001t0001g0150 a0001c0001t0005g0082 a0001c0001t0005g0091 a0001c0001t0005g0127 a0001c0001t0005g0132 a0001c0001t0005g0136	8	286	0.0280	670	c.52 others(681): Show c.5260_*5261insTTTTTTTTTAGACAGAGCCTTGCTCTGGCTGGAA TGCAGTGGTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAG TGATTCTCCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTG CCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCA TGTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTC GGCCTCCCAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTA CAACTTTTATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTC CAACCATCTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAA CAAGTGCAAATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTAT CTTCTCTGTATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAA CCTCGGCATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGT TCTAGCACTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCC TAGTTCAGACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCAT CTACCTCCATCATCCACTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(663): Show CAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGCT CCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGATG GAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTAA AATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACAA TTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGTT TTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAATT CCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTGA GAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCAG TGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATCA TCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCGT CTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGTA ATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAAG GTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGCA AGGCTCTGTCTAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0125 a0001c0001t0022g0125	1	286	0.0035	670	c.52 others(681): Show c.5260_*5261insTTTTTTTTTTAGACAGAGCCTTGCTCTGGCTGGA ATGCAGTGGTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAA GTGATTCTCCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGT GCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTT CGGCCTCCCAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCT ACAACTTTTATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTT CCAACCATCTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGA ACAAGTGCAAATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTA TCTTCTCTGTATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATA ACCTCGGCATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAG TTCTAGCACTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTC CTAGTTCAGACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCA TCTACCTCCATCATCCACTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(663): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAA GTACCTTCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTG CCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCT CCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0245 a0002c0002t0001g0245	1	448	0.0022	670	c.56 others(681): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTA ACTGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTG CTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAG CTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTT AGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGAC CTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATG AGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCGG GCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGG TGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTG AAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGG GTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(663): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAG TACCTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTG CCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCT CCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0377 a0002c0002t0001g0377	1	448	0.0022	670	c.56 others(681): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGT AACTGGATATAACTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTG CTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAG CTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTT AGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGAC CTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATG AGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCGG GCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGG TGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTG AAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGG GTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(663): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAG ACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAA ATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTG AGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAA AAGTACCTTCTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTG CCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCT CCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 NA18953.hp2 NA18956.hp1 others(5): Show HG02083.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp2 NA18993.hp1 NA19000.hp1 NA19005.hp2 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0006 a0002c0003t0017 a0002c0003t0003 a0002c0003t0006 a0002c0003t0017	a0002c0003t0003g0119 a0002c0003t0003g0157 a0002c0003t0003g0173 others(5): Show a0002c0003t0003g0119 a0002c0003t0003g0157 a0002c0003t0003g0173 a0002c0003t0003g0215 a0002c0003t0006g0040 a0002c0003t0006g0042 a0002c0003t0006g0050 a0002c0003t0017g0060	8	448	0.0179	670	c.56 others(681): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAAC TGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTT GCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAA GCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTT TAGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGA CCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCAT GAGCCACTGCGCCTGGCGAGAACATTTTTTTTTAACAGTTAATTGGCCGG GCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGG TGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTG AAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGG GTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(663): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGTTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCA AAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAACTGTT TAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGAC CATCCTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAAAT TAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTGAG ATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTCAA AAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAG TACCTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTG CCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCT CCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0043 a0002c0002t0009g0043	1	448	0.0022	670	c.56 others(681): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGT AACTGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTC TTGCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGA AAGCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATT TTTAGTAGAGACAGGTTTCACTGTGTTAGCAAGGATGGTCTCGATCTCCT GACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC ATGAGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAAACAGTTAATTGG CCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGG CAGGTGGATCATGAGGTCAGGAGATCGAGAACATCCTGGCTAACATGGTG AAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGG GTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(663): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAG GGGAGGGGGGAGGGGGAGGGTAGGGGGGAGGGGGAGGGGAGGGGGGAGGG GGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGG AGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGA GGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAG GGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGA GGGGAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0216 a0002c0002t0002g0216	1	272	0.0037	670	c.250 others(685): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCC CTCCCCTCCCCCTCCCCCCTACCCTCCCCCTCCCCCCTCCCCTCCCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCC CTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCC CCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCT CCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCC TCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(663): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCC CTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCC TCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTC TCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCC CCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	140	0.0071	670	c.114 others(689): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCT CCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCC CTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCC TCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
NOL4L_chr20_32438059_32590333	32563187	G G	GGGAGGGT others(663): Show GGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGG CAGGGAGGGTGGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGA GGGTGGGGAGGGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGGTGGAG GGGGGGAAGTGGGGAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGA GAGTGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCGGGGGGGAGGGAGG AAGGCGGGGGGGGAGGGAGGGAGAGTGGGGAGGGTGGAGGGGAGGGAGGG TGGAGGGAGGGAGAGTGGGGAGGGTGGAGGGCAGGGAGGAGGGAGGAGGG GAGGGAGGGAGAGTGGGGAGGGTGGAGGGCAGGGAGGGTGGAGGGCAGGG AGGATGGAGGGAGGGAGAGTGGGGAGGGTGGAGGGCAGGGAGTGGGGAGG GAGGGACAGTGGGGAGGTTGGAGGGGAGGGAGGGTGGAGGGCAGGGAGGG TGGAGAGCAGGGAGGGTGGGGAGGGAGGGTGGAGGGAAGGAGAGTGGGGA GGGAGGGAGAGTGGAGAGGGAGGGTGGAGGGGAAGGAGGGTGGAGGGAGG GAGAGTGGGGAAGGTGGAGGGGAGGGAGGGTGGAGGGCAGGGATGGTGGA GGGAGGGAGAGTGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	196	0.0051	670	c.321 others(689): Show c.321+21382_321+21383insTCCCTCCCCACTCTCCCTCCCTCCAC CATCCCTGCCCTCCACCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCC CTCCACCCTCCTTCCCCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCC ACTCTCCTTCCCTCCACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTC CCTGCCCTCCACCCTCCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCC CCACTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTG CCCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCTC CTCCCTCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCACCCTC CCTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCCCCCGCCTTCCTCC CTCCCCCCCGCCTTCCTCCCTCCCTCCCCTCCACCTTCCCCACTCTCCCT CCCTCCATCCTCCCTGCCCTCCACCCTCCCTCCCCACTTCCCCCCCTCCA CCCTCCCTGCCCTCCCCACTCTCCCTCCACCCTCCCTCCCCACCCTCCCT GTCCTCCATCCTCCCTCCCCACCCTCCCTCCCTCCACCCTCCCTGCCTTC CACTCTCCCTCCCTCCCCTCCACCCTCCTTACCTTCTACCCTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
PDE1C_chr7_31746179_32075407	31886816	T T	TTTCGGAT others(663): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0066 a0001c0003t0012g0066	1	262	0.0038	670	c.129 others(687): Show c.129-5957_129-5956insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PEX26_chr22_18072990_18110396	18106374	C C	CGTGGTTC others(663): Show CGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTG GTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGT TCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGTTC CAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGTTCCA GTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGTTCCAGT CTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTGGTTCCAGTCT GAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGTTTCAGTCTGT CTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCT GAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTTCCAGTCTGAGTCTGA AGCCGGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCTGAGTCTGAAG CCTGAGACCCAGGAGAGCTGAATACGTAGTTCCAGTCGGAGTCTGAAGCC TGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAATCTGAAGCCCG AGACCCAGGAGAGCTGATGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG01243.hp2 HG02055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0132 a0002c0002t0131 a0001c0001t0132 a0002c0002t0131	a0001c0001t0132g0117 a0002c0002t0131g0134 a0001c0001t0132g0117 a0002c0002t0131g0134	2	398	0.0050	670	c.18 others(683): Show c.18299_*18300insGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACC CACGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA CGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACG AGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAG AGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAG CTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCT GAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGA AGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAG ATGTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGACGT GGTTCCAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGACATGG TTCCAGTCTGAGTCTGAAGCCGGAGACCCAGGAGAGCTGATGGTGTGGTT CCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGTAGTTCC AGTCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAG TCTGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT	PEX26	ENSG00000215193.14	transcript	ENST00000399744.8	protein_coding		979		chr22	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(663): Show TATATATAATTATATATAATTATATATAATTATATAATTATATATAATTG TATATAATTATTTATTATATAATTATATATTATTTATTATATAATTATAT AATTATATATTATTTATTATATATTATATAATTATATAATTATATATTAT TTATTATATAATATATAATTATATATTATTTATTATATAATTATATATTA TTTATTATATATATTATTTATTATATAATTATATATTATGTATTATATAA TTATATAATTATATATTATGTATTATATAATTATATATTATGTATTATAT AATTATATAATTATATATTATGTATTATATAATTATATATTATTTATTAT ATAATTATATAATTATATATTATTTATTATATAATTATATAATTATATAT TATTTATTATATAATTATATAATTATATATTATTTATTATATAATTATAT AATTATATATTATTTATTATATAATTATATATTATTTATTATATAATTAT ATATTATTTATTACATAAATATATATTATTTATTACATAAGTATATATCA CTTATTATATAATTGCATATAATTATTTATTATATAATTGCATATAATTA TTTATTATATAATTGTATATAGTTATTTATTATATAATTGTATATAGTTA TTTATTATATAATTCTATATA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18950.hp1 NA18999.hp1 NA18945.hp2 NA18950.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0019 a0001c0001 a0001c0007 a0001c0019	a0001c0001t0003 a0001c0007t0002 a0001c0019t0001 a0001c0001t0003 a0001c0007t0002 a0001c0019t0001	a0001c0001t0003g0057 a0001c0007t0002g0084 a0001c0019t0001g0061 a0001c0001t0003g0057 a0001c0007t0002g0084 a0001c0019t0001g0061	3	106	0.0283	670	c.862 others(687): Show c.862+3417_862+3418insATATAATTATATATAATTATATATAATT ATATAATTATATATAATTGTATATAATTATTTATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATATTATATAA TTATATAATTATATATTATTTATTATATAATATATAATTATATATTATTT ATTATATAATTATATATTATTTATTATATATATTATTTATTATATAATTA TATATTATGTATTATATAATTATATAATTATATATTATGTATTATATAAT TATATATTATGTATTATATAATTATATAATTATATATTATGTATTATATA ATTATATATTATTTATTATATAATTATATAATTATATATTATTTATTATA TAATTATATAATTATATATTATTTATTATATAATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATAATTATATA TTATTTATTATATAATTATATATTATTTATTACATAAATATATATTATTT ATTACATAAGTATATATCACTTATTATATAATTGCATATAATTATTTATT ATATAATTGCATATAATTATTTATTATATAATTGTATATAGTTATTTATT ATATAATTGTATATAGTTATTTATTATATAATTCTATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB11FIP3_chr16_420649_528011	504502	T T	TTCCTGTA others(663): Show TTCCTGTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCT TGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACC CCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTC CTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCC TCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTC CTGTACCCCCTCACCTCCTTGTGCAACCCTCACCTCCTGTACCCCCTCAC CTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTG CACTCCCATCTCCTCCTGTACCCCCTTACCTCCTTGTGCACCCCTCACCT CCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCC TTCACTTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCC TGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCAC CTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGT ACCCCCTCACCTCCTTGTGCAACCCTCACCTCCTGTACCCCCTCACCTCC TCCTGTACCCCCCTCACCTCC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	295	0.0034	670	c.139 others(689): Show c.1396-1013_1396-1012insACCTCCTCCTGTACCCCCTCACCTCC TCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCC TCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCC TGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCA CCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTAC CCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCAACCCTCACCTC CTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCC CTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTTACCTCCTTG TGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCAC CTCTTCCTGTACCCTTCACTTCCTCCTGTACCCCCTCACCTCCTCCTGCA CTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTC CTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCC TCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCAACCCTCACCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(663): Show GGAGGGGAAGGCGTGGGGAGGAGGGGGCCACATGGGGAGGAGCGGGCCGC GAGGGGAGGAGGGGGGCCGCGTGGGGAGGAGGGGGGCCACGTGGGGAGGA GGGGGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTT GGGGAGGAGGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGG GGGCCGTGAGGAGAGGAGGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGG GGAGGAGGGGGGGCGCGTGGGGAGGAGGGGGGCCGCGAGGGGAGGAGGGG GCCGCGTGGGGAGGAGGGTGCCGCGTGGGGAGGAGGGGGCGTGTGGGGAG GAGGCGCCGCGTGGGGGAGGAGGGGGCCGTGAGGAGAGGAGGGGGCCCCG TGGGGAGGAGGGGGAAGGCGTGGGGAGGAGGGGGGGCGCGTGGGGAGGAG GGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGCGCCGTGTGG GGAGGAGGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGG CCGCGAGGGGAGGAGGGGGCCCGCGTGGGGAGGAGGGGGGGCCGCGTGGG GAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCT GTGTGGGGAGGAGGGGGCCGC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	67	0.0149	670	c.159 others(687): Show c.1590+407_1590+408insGCGGCCCCCTCCTCCCCACACAGCCCCC TCCTCCCCTCGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGC GGCCCCCCCTCCTCCCCACGCGGGCCCCCTCCTCCCCTCGCGGCCCCCTC CTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCCTCCTCCCCACACG GCGCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCC CCACGCGCCCCCCCTCCTCCCCACGCCTTCCCCCTCCTCCCCACGGGGCC CCCTCCTCTCCTCACGGCCCCCTCCTCCCCCACGCGGCGCCTCCTCCCCA CACGCCCCCTCCTCCCCACGCGGCACCCTCCTCCCCACGCGGCCCCCTCC TCCCCTCGCGGCCCCCCTCCTCCCCACGCGCCCCCCCTCCTCCCCACGCC TTCCCCTCCTCCCCACGGGGCCCCCCTCCTCTCCTCACGGCCCCCCTCCT CCCCACGCGGCTCCCTCCTCCCCTCGCGGCCCCCCTCCTCCCCAAGCCTT CCCCTCCTCCCCACGGGGCCCCCTCCTCTCCTCACAGCCCCCCTCCTCCC CACGTGGCCCCCCTCCTCCCCACGCGGCCCCCCTCCTCCCCTCGCGGCCC GCTCCTCCCCATGTGGCCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RIMBP3B_chr22_21378751_21394478	21378881	A A	AAAGAAAA others(663): Show AAAGAAAAAAGAAAAGAAAAATTAGCCGGGCATGGTGGTGCTAGCCTGTA GTCACAGCTACTCGGGAGGCTGAAGTGAGAGGATTGCTTAAGTCCAGGAG GCGAACGTTGCAGTATGCCGAGATCACGCCACTGCACTCCAGCCTGGATG ACAGAGCAAGACCCTGTCTCCAAAAAATAAATAATAAAACAATTTTAAAA TTTATTTTATTTTACTTTTTTTTTAGAGATGGAGTCTCTTTGTAGCCCAG GCTGGAGTGCAGTGGCATGATCATTGCTCACTGCAGCTTTGAATTCTTGG GCTCAAACTATTCTCCCACTTCAGCCTCCTAAGTAGCTGGGGCTACAGGC ACACGCCACTATGCCTGGCCTTTTTTTGTTTGTTTTAGAAACAGGGTGTC ACTATGTCTCCCAGGCAGGAGTGCGGTGACTCACTCATGGCTCATTTCAG TCTTGACGTCCCAGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAGTCT CTAGGAGTACAGGCATGCACCACCATGCCCAGTTAATTTTTGTGTTTTTT GTAGAGGTGGGTGTCATGTTGCCCAGGCTGGTCTCAAACTTCAGAGCTCA AGTACTCCACCCATCCCCGCCTCCCAAAGGGCTGGGTATACAGGCTTAAG ACACCATTCTGGGCCACAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG00741.hp1 others(16): Show HG00621.hp2 HG00642.hp2 HG00741.hp1 HG01175.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG02040.hp1 HG02683.hp1 HG02818.hp1 HG03041.hp1 HG03471.hp2 HG03579.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp1 NA20905.hp1 NA20905.hp2	a0001 a0006 a0007 others(8): Show a0001 a0006 a0007 a0009 a0024 a0026 a0027 a0028 a0033 a0034 a0035	a0001c0002 a0001c0003 a0006c0005 others(10): Show a0001c0002 a0001c0003 a0006c0005 a0007c0068 a0007c0077 a0009c0016 a0024c0079 a0026c0083 a0027c0078 a0028c0076 a0033c0082 a0034c0071 a0035c0070	a0001c0002t0004 a0001c0003t0004 a0006c0005t0004 others(10): Show a0001c0002t0004 a0001c0003t0004 a0006c0005t0004 a0007c0068t0005 a0007c0077t0004 a0009c0016t0001 a0024c0079t0001 a0026c0083t0005 a0027c0078t0004 a0028c0076t0007 a0033c0082t0002 a0034c0071t0011 a0035c0070t0001	a0001c0002t0004g0000 a0001c0003t0004g0000 a0006c0005t0004g0000 others(10): Show a0001c0002t0004g0000 a0001c0003t0004g0000 a0006c0005t0004g0000 a0007c0068t0005g0000 a0007c0077t0004g0000 a0009c0016t0001g0000 a0024c0079t0001g0000 a0026c0083t0005g0000 a0027c0078t0004g0000 a0028c0076t0007g0000 a0033c0082t0002g0000 a0034c0071t0011g0000 a0035c0070t0001g0000	19	118	0.1610	670	c.-49 others(681): Show c.-4978_-4977insAAGAAAAAAGAAAAGAAAAATTAGCCGGGCATGG TGGTGCTAGCCTGTAGTCACAGCTACTCGGGAGGCTGAAGTGAGAGGATT GCTTAAGTCCAGGAGGCGAACGTTGCAGTATGCCGAGATCACGCCACTGC ACTCCAGCCTGGATGACAGAGCAAGACCCTGTCTCCAAAAAATAAATAAT AAAACAATTTTAAAATTTATTTTATTTTACTTTTTTTTTAGAGATGGAGT CTCTTTGTAGCCCAGGCTGGAGTGCAGTGGCATGATCATTGCTCACTGCA GCTTTGAATTCTTGGGCTCAAACTATTCTCCCACTTCAGCCTCCTAAGTA GCTGGGGCTACAGGCACACGCCACTATGCCTGGCCTTTTTTTGTTTGTTT TAGAAACAGGGTGTCACTATGTCTCCCAGGCAGGAGTGCGGTGACTCACT CATGGCTCATTTCAGTCTTGACGTCCCAGGCTCAAGCAATCTTCCCACCT CAGCCTCCCAAGTCTCTAGGAGTACAGGCATGCACCACCATGCCCAGTTA ATTTTTGTGTTTTTTGTAGAGGTGGGTGTCATGTTGCCCAGGCTGGTCTC AAACTTCAGAGCTCAAGTACTCCACCCATCCCCGCCTCCCAAAGGGCTGG GTATACAGGCTTAAGACACCATTCTGGGCCACAATT	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		4869		chr22	TogoVar
RIMBP3B_chr22_21378751_21394478	21378881	A A	AAAGAAAA others(663): Show AAAGAAAAAAGAAAAGAAAAATTAGCCGGGCATGGTGGTGCTAGCCTGTA GTCACAGCTACTCGGGAGGCTGAAGTGAGAGGATTGCTTAAGTCCAGGAG GCGAACGTTGCAGTATGCCGAGATCACGCCACTGCACTCCAGCCTGGATG ACAGAGCAAGACCCTGTCTCCAAAAAATAAATAATAAAACAATTTTAAAA TTTATTTTATTTTACTTTTTTTTTAGAGATGGAGTCTCTTTGTAGCCCAG GCTGGAGTGCAGTGGCATGATCATTGCTCACTGCAGCTTTGAATTCTTGG GCTCAAACTATTCTCCCACTTCAGCCTCCTAAGTAGCTGGGGCTACAGGC ACACGCCACTATGCCTGGCCTTTTTTTGTTTGTTTTAGAAACAGGGTGTC ACTATGTCTCCCAGGCAGGAGTGCGGTGACTCACTCATGGCTCATTTCAG TCTTGACGTCCCAGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAGTCT CTAGGAGTACAGGCATGCACCACCATGCCCAGTTAATTTTTGTGTTTTTT GTAGAGGTGGGTGTCATGTTGCCCAGGCTGGTCTCAAACTTCAGAGCTCA AGTACTCCACCCATCCCCGCCTCCCAGAGGGCTGGGTATACAGGCTTAAG ACACCATTCTGGGCCACAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0075 a0075	a0075c0012 a0075c0012	a0075c0012t0013 a0075c0012t0013	a0075c0012t0013g0000 a0075c0012t0013g0000	1	118	0.0085	670	c.-49 others(681): Show c.-4978_-4977insAAGAAAAAAGAAAAGAAAAATTAGCCGGGCATGG TGGTGCTAGCCTGTAGTCACAGCTACTCGGGAGGCTGAAGTGAGAGGATT GCTTAAGTCCAGGAGGCGAACGTTGCAGTATGCCGAGATCACGCCACTGC ACTCCAGCCTGGATGACAGAGCAAGACCCTGTCTCCAAAAAATAAATAAT AAAACAATTTTAAAATTTATTTTATTTTACTTTTTTTTTAGAGATGGAGT CTCTTTGTAGCCCAGGCTGGAGTGCAGTGGCATGATCATTGCTCACTGCA GCTTTGAATTCTTGGGCTCAAACTATTCTCCCACTTCAGCCTCCTAAGTA GCTGGGGCTACAGGCACACGCCACTATGCCTGGCCTTTTTTTGTTTGTTT TAGAAACAGGGTGTCACTATGTCTCCCAGGCAGGAGTGCGGTGACTCACT CATGGCTCATTTCAGTCTTGACGTCCCAGGCTCAAGCAATCTTCCCACCT CAGCCTCCCAAGTCTCTAGGAGTACAGGCATGCACCACCATGCCCAGTTA ATTTTTGTGTTTTTTGTAGAGGTGGGTGTCATGTTGCCCAGGCTGGTCTC AAACTTCAGAGCTCAAGTACTCCACCCATCCCCGCCTCCCAGAGGGCTGG GTATACAGGCTTAAGACACCATTCTGGGCCACAATT	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		4869		chr22	TogoVar
RIMBP3B_chr22_21378751_21394478	21378881	A A	AAAGAAAA others(663): Show AAAGAAAAAAGAAAAGAAAAATTAGCCGGGCATGGTGGTGCTAGCCTGTA GTCACAGCTACTCGGGAGGCTGAAGTGAGAGGATTGCTTAAGTCCAGGAG GCGAACGTTGCAGTATGCCGAGATCACGCCACTGCACTCCAGCCTGGATG ACAGAGCAAGACTCTGTCTCCAAAAAATAAATAATAAAACAATTTTAAAA TTTATTTTATTTTACTTTTTTTTTAGAGATGGAGTCTCTTTGTAGCCCAG GCTGGAGTGCAGTGGCATGATCATTGCTCACTGCAGCTTTGAATTCTTGG GCTCAAACTATTCTCCCACTTCAGCCTCCTAAGTAGCTGGGGCTACAGGC ACACGCCACTATGCCTGGCCTTTTTTTGTTTGTTTTAGAAACAGGGTGTC ACTATGTCTCCCAGGCAGGAGTGCGGTGACTCACTCATGGCTCATTTCAG TCTTGACGTCCCAGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAGTCT CTAGGAGTACAGGCATGCACCACCATGCCCAGTTAATTTTTGTGTTTTTT GTAGAGGTGGGTGTCATGTTGCCCAGGCTGGTCTCAAACTTCAGAGCTCA AGTACTCCACCCATCCCCGCCTCCCAAAGGGCTGGGTATACAGGCTTAAG ACACCATTCTGGGCCACAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01433.hp1 HG02015.hp1 others(7): Show HG01071.hp2 HG01433.hp1 HG02015.hp1 HG02015.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 NA18747.hp2 NA18966.hp2 NA18979.hp1	a0001 a0006 a0008 others(3): Show a0001 a0006 a0008 a0013 a0030 a0032	a0001c0002 a0006c0005 a0008c0009 others(3): Show a0001c0002 a0006c0005 a0008c0009 a0013c0010 a0030c0075 a0032c0081	a0001c0002t0004 a0006c0005t0004 a0008c0009t0001 others(3): Show a0001c0002t0004 a0006c0005t0004 a0008c0009t0001 a0013c0010t0004 a0030c0075t0001 a0032c0081t0002	a0001c0002t0004g0000 a0006c0005t0004g0000 a0008c0009t0001g0000 others(3): Show a0001c0002t0004g0000 a0006c0005t0004g0000 a0008c0009t0001g0000 a0013c0010t0004g0000 a0030c0075t0001g0000 a0032c0081t0002g0000	10	118	0.0848	670	c.-49 others(681): Show c.-4978_-4977insAAGAAAAAAGAAAAGAAAAATTAGCCGGGCATGG TGGTGCTAGCCTGTAGTCACAGCTACTCGGGAGGCTGAAGTGAGAGGATT GCTTAAGTCCAGGAGGCGAACGTTGCAGTATGCCGAGATCACGCCACTGC ACTCCAGCCTGGATGACAGAGCAAGACTCTGTCTCCAAAAAATAAATAAT AAAACAATTTTAAAATTTATTTTATTTTACTTTTTTTTTAGAGATGGAGT CTCTTTGTAGCCCAGGCTGGAGTGCAGTGGCATGATCATTGCTCACTGCA GCTTTGAATTCTTGGGCTCAAACTATTCTCCCACTTCAGCCTCCTAAGTA GCTGGGGCTACAGGCACACGCCACTATGCCTGGCCTTTTTTTGTTTGTTT TAGAAACAGGGTGTCACTATGTCTCCCAGGCAGGAGTGCGGTGACTCACT CATGGCTCATTTCAGTCTTGACGTCCCAGGCTCAAGCAATCTTCCCACCT CAGCCTCCCAAGTCTCTAGGAGTACAGGCATGCACCACCATGCCCAGTTA ATTTTTGTGTTTTTTGTAGAGGTGGGTGTCATGTTGCCCAGGCTGGTCTC AAACTTCAGAGCTCAAGTACTCCACCCATCCCCGCCTCCCAAAGGGCTGG GTATACAGGCTTAAGACACCATTCTGGGCCACAATT	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		4869		chr22	TogoVar
RPH3AL_chr17_207389_357807	254613	C C	CGTGACTA others(663): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTGTCC TGTTCCATCCCTAGGAATGTGACTACCCTACGAACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTTACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGG AGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAG GAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTG TCCTTTTCCGTCCCTAGGAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	133	0.0075	670	c.439 others(687): Show c.439-7329_439-7328insATTCCTAGGGACGGAAAAGGACAGACAC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGA TGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGT AGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCA TAGGAAGTACGTAGGGTAGTCATATTCCTAGGGATGGAAAAGGACAGACG CCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGG ATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGG TAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTC ATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGAC GCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTAACGTTCCTAGG GATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGG GTAGTCACATTCCTAGGGATGGAACAGGACAGACGCCGTGCGGCTCCCCT CATAGGAAGTTCGTAGGGTAGTCACATTCCTAGGGATGGAACAGGACAGA CGCCGTGCGACTCCCCTCATAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255286	G G	GACTACCC others(663): Show GACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTT TCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCG CACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTTACTACCCTACGTACT TCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACG TGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTGTCCTT TTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCT GCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTAC TTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAAC GTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTGTCCT TTTCCATCCCTAGGAACGTTACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAACGTTACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0042 a0001c0001t0008g0042	1	133	0.0075	670	c.439 others(687): Show c.439-8002_439-8001insAACGTTCCTAGGGATGGAAAAGGACAGA CGCCGTGCGACTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAG GGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAG GGTAGTAACGTTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCC TCATAGGAAGTACGTAGGGTAGTAACGTTCCTAGGGATGGAAAAGGACAG ACGCCGTGCGACTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTA GGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTA GGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCAGCTCCC CTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACA GACGCCGTGCGACTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCT AGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGT AGGGTAGTAACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCC CCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGAC AGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255886	T T	TGTGACTA others(663): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATAAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCGTCCCTAGG AATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCATCTGT CCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGG AGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAG GAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTG TCCTTTTCCGTCCCTAGGAAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0016 a0003c0011t0001g0016	1	133	0.0075	670	c.439 others(687): Show c.439-8602_439-8601insGTTCCTAGGGACGGAAAAGGACAGACGC CGTGCAGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGA TGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGT AGTCACATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCA TAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGATG CCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGG ACGGAACAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGG TAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTC ATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGAC GCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGG GATGGAAAAGGACAGACGCCGTGCAGCTCCCCTTATAGGAAGTACGTAGG GTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCT CATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGA CGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256422	T T	TGTGACTA others(663): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTGTTCTGTCCCTAGGAATGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTATCCTTTTCCATCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTAT CCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGG AGCTGCACGGTGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAG GAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTG TCCTTTTCCGTCCCTAGGAAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0118 a0001c0001t0027g0118	1	133	0.0075	670	c.439 others(687): Show c.439-9138_439-9137insGTTCCTAGGGACGGAAAAGGACAGACGC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGA CGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGT AGTCACGTTCCTAGGGACGGAAAAGGACAGACACCGTGCAGCTCCCCTCA TAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGATAGACG CCGTGCGACTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGG ATGGAAAAGGATAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGG TAGTCACATTCCTAGGGACAGAACAGGACAGACGCCGTGCGGCTCCCCTC ATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGAC GCCGTGCGACTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGG GACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGG GTAGTCACGTTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCCT CATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGACGGAAAAGGACAGA CGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257830	G G	GTGACTAC others(663): Show GTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCT TTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA TATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCGTCCCTAGGAATGGGACTACCCTACGTACTTCCTATAAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGGGACTACCCTACGT ACTTCCTATGAGGTGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGA ATGGGACTACCCTACGTACTTCCTATAAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAATGGGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGGGACTACCCTACG TACTTCCTATAAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGG AATGGGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTTTTCCATCCCTAGGAATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0107 a0001c0001t0013g0107	1	133	0.0075	670	c.439 others(689): Show c.439-10546_439-10545insTATTCCTAGGGATGGAAAAGGACAGA CGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCCCATTCCTAG GGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTTATAGGAAGTACGTAG GGTAGTCCCATTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCC TCATAGGAAGTACGTAGGGTAGTCCCATTCCTAGGGATGGAAAAGGACAG ACGCCGTGCGGCTCCCCTTATAGGAAGTACGTAGGGTAGTCCCATTCCTA GGGACGGAAAAGGACAGACGCCGTGCGGCTCACCTCATAGGAAGTACGTA GGGTAGTCCCATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCC CTTATAGGAAGTACGTAGGGTAGTCCCATTCCTAGGGACGGAAAAGGACA GACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCATATTCCT AGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGT AGGGTAGTCACATTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCC CCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGACGGAAAAGGAC AGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RSPH1_chr21_42467486_42501224	42477256	C C	CCCCCTCC others(663): Show CCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCA CTCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGC CCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATG CCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCC CTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCC ACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCC ACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCT GACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCC ACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAG CCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACAC CCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACC CCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCC CACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCG GGGGTGCCCCACACCCTCTGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00639.hp2 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	2	408	0.0049	670	c.727 others(683): Show c.727+34_727+35insTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGG GTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGG GCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGT GTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCAC CCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGG AGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAG AGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGG GGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCC GGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGAGTGGAGGG GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG TGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGC TGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTG GAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCA GAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(663): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAG GACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGG AGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAACAGGT GCTAAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGA GGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGG AGGAGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGA GGAGGAGGCACAGGAGGAGGAGGAGGAAGCACAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	203	0.0049	670	c.-12 others(689): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTG TCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCTG TTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCC TCCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGC ACCTGTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTC CTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(663): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGC TAGGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGG AGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAACAGGT GCTAAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGA GGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGG AGGAGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGA GGAGGAGGCACAGGAGGAGGAGGAGGAAGCACAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	203	0.0049	670	c.-12 others(689): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTG TCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCTG TTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCC TGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACC TGTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTC CTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(663): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTC CCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC ATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCC CCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	150	0.0067	670	c.77- others(687): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCC TCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(663): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCTACCTCCTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTC CCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC ATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCC CCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	150	0.0067	670	c.77- others(687): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCTACCTCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCC TCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(663): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTC CCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC ATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCC CCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02273.hp1 HG03654.hp2 HG01934.hp1 HG02273.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0083 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0083	3	158	0.0190	670	c.22+ others(687): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCC TCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(663): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCTACCTCCTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTC CCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC ATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCC CCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0120 a0001c0001t0004g0120	1	158	0.0063	670	c.22+ others(687): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCTACCTCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCC TCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
TCF3_chr19_1604292_1657615	1627878	G G	GGGGATGA others(663): Show GGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCA CGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAA GGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCA CGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGA AGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCT CACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGA AGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGA AGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAAC TCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGG GAAGGGGACAGCAGAACTCAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18945.hp1 HG00609.hp2 NA18945.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0088 a0002c0001t0006 a0002c0001t0088	a0002c0001t0006g0068 a0002c0001t0088g0292 a0002c0001t0006g0068 a0002c0001t0088g0292	2	352	0.0057	670	c.299 others(685): Show c.299-453_299-452insGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTC ACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCT GTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTC ACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCT GTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCC ACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTG CTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCTG CTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TGM2_chr20_38122385_38170270	38124008	A A	ATATATAT others(663): Show ATATATATAATATACCTATTATATATATAATATACCTATTATATATAATA TACCTATTATATATAAAATATACCTATTATATATAATATACCTATTATAT ACATTATATATAATATACCTATTATATGCATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATAA TATATTATATATAATATGCATATTATATGTATTATATATTATATATTATA TATATAATATACATATTATATGTATTATATATAATATATTATATATATAA TATACATATTATATGTATTATATATTATATATAATATACATATTATATAT TATATATTATATACATATTATATATTATATATTATATACATATTATATAT TATATATTATATACATATTATATATTATATACATATTATATATTATATAT TATATACATATTATACATTATATATATCTAAAATATATAATACACATTAT ATATTATATAATACACATTATATATTATATATAATACACATTATATATTA TATATAATACACATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0004 a0001c0025t0004	a0001c0025t0004g0127 a0001c0025t0004g0127	1	360	0.0028	670	c.62 others(681): Show c.6210_*6211insATATATAATGTGTATTATATATAATATATAATGT GTATTATATATAATATATAATGTGTATTATATAATATATAATGTGTATTA TATATTTTAGATATATATAATGTATAATATGTATATAATATATAATATAT AATATGTATATAATATATAATATGTATATAATATATAATATATAATATGT ATATAATATATAATATATAATATGTATATAATATATAATATATAATATGT ATATTATATATAATATATAATACATATAATATGTATATTATATATATAAT ATATTATATATAATACATATAATATGTATATTATATATATAATATATAAT ATATAATACATATAATATGCATATTATATATAATATATTATATAATGCAT ATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTA TATATAATGCATATAATAGGTATATTATATATAATGTATATAATAGGTAT ATTATATATAATAGGTATATTTTATATATAATAGGTATATTATATATAAT AGGTATATTATATATATAATAGGTATATTATATATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3376		chr20	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(663): Show GTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCT CTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCT CTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCT CTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGT CTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCT CTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTGTCTCTCTCTCTGTCTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0073 a0001c0003t0001g0073	1	256	0.0039	670	c.924 others(687): Show c.924-2424_924-2423insGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGA GAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGA AAGAGACAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGACA GAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGA GAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGA GAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGA GAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar

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Search Results (Total: 10000 hits)