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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Ascending or descending.

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Results per page.

⚠️ 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
RRAS2_chr11_14272922_14364183	14276623	A A	AGGGAGGG others(2741): Show AGGGAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGTAGAGGGAAAGAGG GGAGGTGGGAGGGGGAGGGCAAAGGGAGGGGAAATGGAGAGGAGAGGGGG AGGGGAGGGGAAAGGGGGAGGGGAGAGGGAGGGGAGGGGGAGGGGAGAGG GAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGAGGAAAGGGGGAGGGG AGAGGAAAGGGGGAGGGGAGGGGGAGGGGAAAGGGAGAGGAAAGGGGGAG GGGAGGGGAAAGGGAGAGGAAAGGGGGAGGGGAGGGGAAAGGGAGAGGAA AGGGGGAGGGGAGGGGAGGCAGAGGGGAGGACAGGAGAGGGGAGGACGGG AGGGGAGGCAGAGGGGAGGATGGGGGAGGACAGGGGAGGGGGAAGCAAAG GGGAAGAGATGGGAGGGAGAGGGGAGGGAGAGGGAGAAGGGAGGGGAGAG AGGGGAGGGGGAGGGAGAAGGGAGGGGAGGGAGGGGAGGCGGAGGGAGAA GGGAGGGGAGGCGGAGGGAGAAGGGAGGGGAGGCGGAGGGAGAAGGGAGG GGAGGGAGGGGAGGTGGAGGGGGAGGGAGGGGAGGCGGAGGGGGGAGGGA GGGGAGGCGGAGGGGGGAGGGAGGGGAGGGAGTGGAGGGAGAAGGGAGGG GAGGGAGGGGAGGTGGAGGGAGAAGGGAGAGGAGGGAGGGGAGGGAGGGG AGGCGGAGGGTGAAGGGAGGGGAGGGAGGGGAGGCGGAGGGAGAAGGGAG GGGAGGGAGGGGGAAGGAGAAGGGAGGGGAGAAGACGGGGAGGGGGAGGG GGGAGGGGGGAAGGGAGGAGGGGGGATGGAAATGGGAGGGGAGGGGGCAG GGAGGGGAGGGATAGGAGGGGAGGGGAGTGGAGGGGGAACAGAGAGAGGA GAGGGAGAAGGTAGGGGAGGGAGGGGAGGGGGAGGAGAGAGAGGGGAGGG GGAAGGAGGAGAAAGGAGGAAGGGGGAGAGGGGAGAGGGAGGGGAGGGAG GGGAGGAGAGGAAGGAGAGGGGAGGAGACGGAAGGGGGGAGAGGGGAGGA GAGAGAGGGGAGGAGAGGGAGGGGAGGGAGAGGGGAGGAGAGGGAGGGGA GGGAGAGGGGAGGAGAGGGAGGGGAGGGAGAAGGGAGGAGAGGGAGGGGA GGAGAGGGGAGGAGAGGGAGAGGGGAGGAGAGGGAGGGGAGGGAGAGGGA GGAGAGGGAGGGGAGGGGAGGGAGAGGGGAGGAGAGGGAGGGGAGGGAGA GGGGAGGAGAGGGAGGGGAGGGAGAGGGGAGGAGAGGGAGAGGGGAGCAG AGGGAGGGGAGGGAGAGGGGAGCAGAGGGAGGGGAGGGAGAGGGGAGCAG AGGGAGGGGAGGGAGAGGGGAGCAGAGGGAGGGGAGGGAGAGGGGAGCAG AGGGAGGGGAGGGAGAGGGGAGCAGAGGGAGGGGAGGGAGAGGGGAGCAG AGGGAGGGGAGGGAGAGGGGAGGGGCGGAGGGGGAGGGAGAGGGGAGGGG CGGAGGGGGAGGGAGAGGGGAGGGGCGGAGGGGGAGGGAGAGGGGAGGGG CGGAGGGGGAGGAGAGGGGAGGGGCGGAGGGGGGAGGGAGAGGGGAGGGG GGGAGGGAGAGGGGAGGGGCGGAGGGGAAGGGAGAGGGGAGGGGCGGAGG GGGAGGGAGGGGGGGCAGAGGGGGAGGGAGAGGGGAGGGGCGGAGGGGGG AGGAGAGGGGGAGGGGCGGAGGAGGAGGGAGAGGGGAGGGGCGGAGGGGG AGGGAGAGGGGAGGGGCGGAGGGGGGAGGGAGAGGGGATGGGGAGGGGGA GGGAGGGGACGGCAGGGGGAGGGGAGGGGGAGGGAGAAGGGAGGGGACGG CAGGGGGAGGGGAGGGGGAGGGAGAAGAGGGGAAGGGACGGAGAGGGGAT GGGAGGGGGAGCGGAAGGGGAGGGAGAGGGGAGGGAGAGGGGAGGGGAGG GAGAGGGAAAGGGGAGGGAGAGGGAAAGGGGAGGGAGAGGGGGAGGGAGG GGGAGGGGACAGGGATGGGAGGGAGGGGACAGGGAGGGGATGGAGAAGGG ACAGACTGGAGTGGAGAGGGAGAGAGAGGGGAGAGGAAGGAGGGGACAGT GAGGGGAGGGGAAGGAGGGGACAGTGAGGGGAGGGGGAGGGGAGTGAGGG GGGGGAGGGGGAGGGGAGGGGGAGGAGGAGGGAGGGGATGGGGAGGGAAA GGGGAGGGAAAGGGGAGGGGAGGGGGAGGGAGGGGATGGGGAGGGGAGGA GGGAGGGGAGGAGGGGGAGGGGAGGGGAGGGGGCAGGGGACAGGACAGGG GACAGAGATGGGAGGGTAGGGAGGGAGGGGAGGGAGGGGATGGAGGGGAG AGGAGGGGGAGGGAGGGGATGGAGGGGAGAGGAGGGGGAGGGAGGGGAGA GGAGGGGGAGGGAGGGGATGGAGGGGAGAGGAGGGGGATGGAGGGGAGAG GAGGGGGAGGGAGGGGATGGAGGGGGCGGGAGGGAGGGTATGGAGGAGAG AGGAGGGGAAGGGAGGGGAAGGAGGGAGGAGAGGGAGGGGAGGGGAGGGG GGAGGGGAAGAAGGGAGGGGGAGGGAGGGGACGGTGGAGGGGAGGGAGGG GAAGAGTGGAGGGGGAGGGAGGAGAGGGAGGGAGAGGAAGAGGGGAGGGG GAGGGAGGGGACAGAGGGAGGGGAAGGGGGAGGGGGAGGGAGGGGAGGGG GAGGGAAGGGATGGAGGAGAGGGAGTGGAAGGAGAAGGGAGGGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	279	0.0036	2748	c.27 others(2759): Show c.2713_*2714insCTCTTCCCCTCCCTTCTCCTTCCACTCCCTCTCC TCCATCCCTTCCCTCCCCCTCCCCTCCCTCCCCCTCCCCCTTCCCCTCCC TCTGTCCCCTCCCTCCCCCTCCCCTCTTCCTCTCCCTCCCTCTCCTCCCT CCCCCTCCACTCTTCCCCTCCCTCCCCTCCACCGTCCCCTCCCTCCCCCT CCCTTCTTCCCCTCCCCCCTCCCCTCCCCTCCCTCTCCTCCCTCCTTCCC CTCCCTTCCCCTCCTCTCTCCTCCATACCCTCCCTCCCGCCCCCTCCATC CCCTCCCTCCCCCTCCTCTCCCCTCCATCCCCCTCCTCTCCCCTCCATCC CCTCCCTCCCCCTCCTCTCCCCTCCCTCCCCCTCCTCTCCCCTCCATCCC CTCCCTCCCCCTCCTCTCCCCTCCATCCCCTCCCTCCCCTCCCTCCCTAC CCTCCCATCTCTGTCCCCTGTCCTGTCCCCTGCCCCCTCCCCTCCCCTCC CCCTCCTCCCCTCCCTCCTCCCCTCCCCATCCCCTCCCTCCCCCTCCCCT CCCCTTTCCCTCCCCTTTCCCTCCCCATCCCCTCCCTCCTCCTCCCCCTC CCCTCCCCCTCCCCCCCCTCACTCCCCTCCCCCTCCCCTCACTGTCCCCT CCTTCCCCTCCCCTCACTGTCCCCTCCTTCCTCTCCCCTCTCTCTCCCTC TCCACTCCAGTCTGTCCCTTCTCCATCCCCTCCCTGTCCCCTCCCTCCCA TCCCTGTCCCCTCCCCCTCCCTCCCCCTCTCCCTCCCCTTTCCCTCTCCC TCCCCTTTCCCTCTCCCTCCCCTCCCCTCTCCCTCCCCTCTCCCTCCCCT TCCGCTCCCCCTCCCATCCCCTCTCCGTCCCTTCCCCTCTTCTCCCTCCC CCTCCCCTCCCCCTGCCGTCCCCTCCCTTCTCCCTCCCCCTCCCCTCCCC CTGCCGTCCCCTCCCTCCCCCTCCCCATCCCCTCTCCCTCCCCCCTCCGC CCCTCCCCTCTCCCTCCCCCTCCGCCCCTCCCCTCTCCCTCCTCCTCCGC CCCTCCCCCTCTCCTCCCCCCTCCGCCCCTCCCCTCTCCCTCCCCCTCTG CCCCCCCTCCCTCCCCCTCCGCCCCTCCCCTCTCCCTTCCCCTCCGCCCC TCCCCTCTCCCTCCCCCCCTCCCCTCTCCCTCCCCCCTCCGCCCCTCCCC TCTCCTCCCCCTCCGCCCCTCCCCTCTCCCTCCCCCTCCGCCCCTCCCCT CTCCCTCCCCCTCCGCCCCTCCCCTCTCCCTCCCCCTCCGCCCCTCCCCT CTCCCTCCCCTCCCTCTGCTCCCCTCTCCCTCCCCTCCCTCTGCTCCCCT CTCCCTCCCCTCCCTCTGCTCCCCTCTCCCTCCCCTCCCTCTGCTCCCCT CTCCCTCCCCTCCCTCTGCTCCCCTCTCCCTCCCCTCCCTCTGCTCCCCT CTCCCTCCCCTCCCTCTGCTCCCCTCTCCCTCTCCTCCCCTCTCCCTCCC CTCCCTCTCCTCCCCTCTCCCTCCCCTCCCTCTCCTCCCCTCTCCCTCCC CTCCCCTCCCTCTCCTCCCTCTCCCTCCCCTCCCTCTCCTCCCCTCTCCC TCTCCTCCCCTCTCCTCCCCTCCCTCTCCTCCCTTCTCCCTCCCCTCCCT CTCCTCCCCTCTCCCTCCCCTCCCTCTCCTCCCCTCTCCCTCCCCTCCCT CTCCTCCCCTCTCTCTCCTCCCCTCTCCCCCCTTCCGTCTCCTCCCCTCT CCTTCCTCTCCTCCCCTCCCTCCCCTCCCTCTCCCCTCTCCCCCTTCCTC CTTTCTCCTCCTTCCCCCTCCCCTCTCTCTCCTCCCCCTCCCCTCCCTCC CCTACCTTCTCCCTCTCCTCTCTCTGTTCCCCCTCCACTCCCCTCCCCTC CTATCCCTCCCCTCCCTGCCCCCTCCCCTCCCATTTCCATCCCCCCTCCT CCCTTCCCCCCTCCCCCCTCCCCCTCCCCGTCTTCTCCCCTCCCTTCTCC TTCCCCCTCCCTCCCCTCCCTTCTCCCTCCGCCTCCCCTCCCTCCCCTCC CTTCACCCTCCGCCTCCCCTCCCTCCCCTCCCTCCTCTCCCTTCTCCCTC CACCTCCCCTCCCTCCCCTCCCTTCTCCCTCCACTCCCTCCCCTCCCTCC CCCCTCCGCCTCCCCTCCCTCCCCCCTCCGCCTCCCCTCCCTCCCCCTCC ACCTCCCCTCCCTCCCCTCCCTTCTCCCTCCGCCTCCCCTCCCTTCTCCC TCCGCCTCCCCTCCCTTCTCCCTCCGCCTCCCCTCCCTCCCCTCCCTTCT CCCTCCCCCTCCCCTCTCTCCCCTCCCTTCTCCCTCTCCCTCCCCTCTCC CTCCCATCTCTTCCCCTTTGCTTCCCCCTCCCCTGTCCTCCCCCATCCTC CCCTCTGCCTCCCCTCCCGTCCTCCCCTCTCCTGTCCTCCCCTCTGCCTC CCCTCCCCTCCCCCTTTCCTCTCCCTTTCCCCTCCCCTCCCCCTTTCCTC TCCCTTTCCCCTCCCCTCCCCCTTTCCTCTCCCTTTCCCCTCCCCCTCCC CTCCCCCTTTCCTCTCCCCTCCCCCTTTCCTCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCTCTCCCCTCCCCCTCCCCTCCCTCTCCCCTCCC CCTTTCCCCTCCCCTCCCCCTCTCCTCTCCATTTCCCCTCCCTTTGCCCT CCCCCTCCCACCTCCCCTCTTTCCCTCTACCTCCCCTTCCCCTTCCCCTT CCCCTTCCCCTCCC	RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding		1298		chr11	TogoVar
SH2D4B_chr10_80532902_80651560	80627643	T T	TACAAAAT others(2741): Show TACAAAATTCCCGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCACGGTCTCCCTCT GATGCCGAGCCAAGGCTGGACGGTACTGCTGCCATCTCGGCTCACTGCAA CCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCGATTGCA GGCGCGCACCGCCACGCCTGACTGGTTTTCGTTTTTTTTTTGGTGGAGAC GGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAGCCGCGAGTG ATCCGCCAGCCTCAGCCTCCCAAGGTGCCGGGATTGCAGATGGAGTCTCG TTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTC GGCTCGCTGCAACCACCTCCCAGCCGCCTGCCTTGGCCTCCCGGAGAGCC GAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGAGGAGCG TCTCTGCTTGGCCACCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGG CTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATC TGGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCATCTAGGAAGTGA GGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCACCTCT GCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCTGGGCCGCAGC CCTGTCTGGGAGGTGGGGAGCGTCTCTGCCCGGCCGCTCCGTCTGAGAAG TGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCC CTCCGTCCGGCAACCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCAG CAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCTTCTGCCTGGCCAGCCGCCCCATCCGGGAGGG AGGCGGGGGGGGGGGGGGTCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGG GGGGGTAAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC TCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGACGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCAGTCCGGGAGGGAGGTGGGGGTTCAGCCCCCCGCCCGGCCAG CCGCCCCATCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGC CGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGCCCGGGAGGGAGGTG GGGGGGTCATCCCCCCACCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGG GGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGAGGG GGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGCGGGGTGGGGGGGGGGGGGTCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTTCCGGCCGGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGACAGCCCCCCGCCCAGCCAGCCGCCCTATCCAGGAGGTGAGGGGC GCCTCTGCCCGGCCGTCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGC CAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCTGGGAGGTGTG CCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGCGGTTTTGTGGA ATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGGTTGCC GGGTCTCTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGT ACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATC CCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAAT GGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCA GCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAAGTACCCAGGGA CACAAACACTGCGGAAGGCCAAGGCCGCAGGGTCCTCTGCCTAGGAAAAC CAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGT CCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCA ATAAAAAAAAAATAAATAAATTAAAAAACAAAACAAACAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0003 a0010c0017t0003	a0010c0017t0003g0283 a0010c0017t0003g0283	1	322	0.0031	2748	c.989 others(2765): Show c.989-6631_989-6630insGCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCACG GTCTCCCTCTGATGCCGAGCCAAGGCTGGACGGTACTGCTGCCATCTCGG CTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCC TGCGATTGCAGGCGCGCACCGCCACGCCTGACTGGTTTTCGTTTTTTTTT TGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTA GCCGCGAGTGATCCGCCAGCCTCAGCCTCCCAAGGTGCCGGGATTGCAGA TGGAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTG GCGTGATCTCGGCTCGCTGCAACCACCTCCCAGCCGCCTGCCTTGGCCTC CCGGAGAGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAA GTGAGGAGCGTCTCTGCTTGGCCACCCATCGTCTGGGATGTGAGGAGCCC CTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCG CCATCCCATCTGGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCATC TAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGG GAGCACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCT GGGCCGCAGCCCTGTCTGGGAGGTGGGGAGCGTCTCTGCCCGGCCGCTCC GTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAG TGAGGAGCCCCTCCGTCCGGCAACCACCCCGTCTGGGAAGTGAGGAGCGT CTCCGCCCAGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCTTCTGCCTGGCCAGCCGCCCCA TCCGGGAGGGAGGCGGGGGGGGGGGGGGTCGGCCAGCTGCCCCGTCCGGG AGGGAGGTGGGGGGGTAAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGACGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGTTCAGCCCCCC GCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGCCCGG GAGGGAGGTGGGGGGGTCATCCCCCCACCTGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGTGGGGGGGGGGGG GTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCT TCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGACAGCCCCCCGCCCAGCCAGCCGCCCTATCCAGGA GGTGAGGGGCGCCTCTGCCCGGCCGTCCCTACTGGGAAGTGAGGAGCCCC TCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCT GGGAGGTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGCG GTTTTGTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCG GATGGTTGCCGGGTCTCTGTGGATAGAAGTAGACATGGGAGACTTTTCAT TTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTG TGACCTTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTC AGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATG CTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAAG TACCCAGGGACACAAACACTGCGGAAGGCCAAGGCCGCAGGGTCCTCTGC CTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCT CCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCA AGAATGATCAATAAAAAAAAAATAAATAAATTAAAAAACAAAACAAACAA AAAAAAAAAACAAAATTCCC	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80627643	T T	TACAAAAT others(2741): Show TACAAAATTCCCGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCACGGTCTCCCTCT GATGCCGAGCCAAGGCTGGACGGTACTGCTGCCATCTCGGCTCACTGCAA CCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCGATTGCA GGCGCGCACCGCCACGCCTGACTGGTTTTCGTTTTTTTTTTGGTGGAGAC GGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAGCCGCGAGTG ATCCGCCAGCCTCAGCCTCCCAAGGTGCCGGGATTGCAGATGGAGTCTCG TTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTC GGCTCGCTGCAACCACCTCCCAGCCGCCTGCCTTGGCCTCCCGGAGAGCC GAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGAGGAGCG TCTCTGCTTGGCCACCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGG CTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATC TGGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCATCTAGGAAGTGA GGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCACCTCT GCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCTGGGCCGCAGC CCTGTCTGGGAGGTGGGGAGCGTCTCTGCCCGGCCGCTCCGTCTGAGAAG TGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCC CTCCGTCCGGCAACCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCAG CAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCTTCTGCCTGGCCAGCCGCCCCATCCGGGAGGGA GGCGGGGGGGGGGGGGGGTCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGG GGGGGTAAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC TCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGACGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCAGTCCGGGAGGGAGGTGGGGGTTCAGCCCCCCGCCCGGCCAG CCGCCCCATCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGC CGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCGGGAGGGAGGTG GGGGGGTCATCCCCCCACCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGG GGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGAGGG GGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGCGGGGTGGGGGGGGGGGGGTCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTTCCGGCCGGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGACAGCCCCCCGCCCAGCCAGCCGCCCTATCCAGGAGGTGAGGGGC GCCTCTGCCCGGCCGTCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGC CAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCTGGGAGGTGTG CCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGCGGTTTTGTGGA ATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGGTTGCC GGGTCTCTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGT ACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATC CCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAAT GGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCA GCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAAGTACCCAGGGA CACAAACACTGCGGAAGGCCAAGGCCGCAGGGTCCTCTGCCTAGGAAAAC CAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGT CCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCA ATAAAAAAAAAATAAATAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0259 a0002c0002t0002g0259	1	322	0.0031	2748	c.989 others(2765): Show c.989-6631_989-6630insGCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCACG GTCTCCCTCTGATGCCGAGCCAAGGCTGGACGGTACTGCTGCCATCTCGG CTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCC TGCGATTGCAGGCGCGCACCGCCACGCCTGACTGGTTTTCGTTTTTTTTT TGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTA GCCGCGAGTGATCCGCCAGCCTCAGCCTCCCAAGGTGCCGGGATTGCAGA TGGAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTG GCGTGATCTCGGCTCGCTGCAACCACCTCCCAGCCGCCTGCCTTGGCCTC CCGGAGAGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAA GTGAGGAGCGTCTCTGCTTGGCCACCCATCGTCTGGGATGTGAGGAGCCC CTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCG CCATCCCATCTGGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCATC TAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGG GAGCACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCT GGGCCGCAGCCCTGTCTGGGAGGTGGGGAGCGTCTCTGCCCGGCCGCTCC GTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAG TGAGGAGCCCCTCCGTCCGGCAACCACCCCGTCTGGGAAGTGAGGAGCGT CTCCGCCCAGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCTTCTGCCTGGCCAGCCGCCCCAT CCGGGAGGGAGGCGGGGGGGGGGGGGGGTCGGCCAGCTGCCCCGTCCGGG AGGGAGGTGGGGGGGTAAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGACGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGTTCAGCCCCCC GCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCGG GAGGGAGGTGGGGGGGTCATCCCCCCACCTGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGTGGGGGGGGGGGG GTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCT TCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGACAGCCCCCCGCCCAGCCAGCCGCCCTATCCAGGA GGTGAGGGGCGCCTCTGCCCGGCCGTCCCTACTGGGAAGTGAGGAGCCCC TCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCT GGGAGGTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGCG GTTTTGTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCG GATGGTTGCCGGGTCTCTGTGGATAGAAGTAGACATGGGAGACTTTTCAT TTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTG TGACCTTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTC AGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATG CTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAAG TACCCAGGGACACAAACACTGCGGAAGGCCAAGGCCGCAGGGTCCTCTGC CTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCT CCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCA AGAATGATCAATAAAAAAAAAATAAATAAATTAAAAAAAAAAAAAAAAAA AAAAAAAAAACAAAATTCCC	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLC5A11_chr16_24840963_24916626	24872977	A A	AAAAAATA others(2741): Show AAAAAATACAAAAATTAGCCAGGCATGGTGGTAAGCACCTGTAATCCCAG CTACTCAGGAGGCTGAGGAGCCATGAGAATTGCTTGAGCCCGGGAGGCAG AGGATGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGTATGACAG AGCGAGACCCTGTCTCAATCATATATATATATATATATATTTTTTTTTTT TTTTTTTAAACCATATATATATTTTAAAATCACGTATATGATTCAGTGAT TTTTTTTCTTCCTTTGCACACAAAACTATAATAATTGAGCTATTTCTGAC TGGTACAAAATGTCAACGTTTTAGTTACAAAATAATGCTACTTTTGACTC TTTGAAAAGCATTTTTTTGTGGGTTTTTTTTTTTTTTTTTGACAGAGTTT TGCTCTTGCCCAGGCCGGAGTGCAATGGTGTGATCTCGGCTCACTGCAAA CCTCTGCCTCCCGGTTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAG CTGGGATTACAGGCGCCCACCACCCCCCCCCAGCTAATTTTTGTATTTTT AGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACCCCTGA CCTCGTGATCCACCCACCTCGTAATCCTCCCAAAGTGCTGGGATTACAGG CCTGAGCCATCATGCCTGGCCTGAAAAGCAGTTTTTAAAAAATCATCTAT GATCTCACTGGCAGCATTGTATCATTCATACTTTCTAACCTTTATTCTGT TCTAGATGTTCTATTGCACATGGCAAGATCACACAATATCACAGTGTTGT TCATAAAGCAATAACTGATTTTAGCTTTTTATTATGGAAATGTTAAAAAA TACGCAAAGTAGGCTGGGCATGGTGGCTCATGTATGTAATCCCAGCACTT TGGGAGGCCGAGTTGGGTGGATTGCTTCAGGCCAGGAGTTCGAGACCAGC CTGGGCAACATGGCAAAATCCCATCTCTACCAAAAATACAAAAATCAGCT GGGTGTGGTGATGCACACCTACAGTCTCAGATACTCAGGAGGCTGAGGCA GGAGGATTAGGATAACTTGAGACCGGTAGGTTGAGGCTACAGTGAGCCAT AATTGTGCCACAGCACTCCAGTCTGGGGGACAGAATGAGACCCTGTCTCA AACACACACACACACACACACACACACACACACACACGTAGAAAAAGCTT AGGAGTCAGAAATCATGTTAAAAATCCTTCTGGCTGGATGCAGTGGCTCA TGCCTGTAATCCCTGCACTTTGGGAGGCCATGCGGGGAGAATCACTTGAG TCCAGGATTTCAAGACCAGCCTGGGCAACAGAGCAAGACCTCATCTCTAC TAAAGATTTTTTTTAAATTAGCCGGGCCTGGTGGCGAGTGCCTGTGGTCC CAGCTACTCCAGAGGATGAAGTGGGAGGAACACTTGAGCCCAGGAGTTGG AAGCTGCAGTGAGCTATGATCACGCCACTGCAGTCTAGCCTGAGTGACAG AGAATAGTTCAATTCTGTATTAAGGGCAGGGATATATGGGTAAGTAACCT CCCTTGGAGGTAATCCCAAAAGTCTGAAAGCAAGACCTTTGGTGAGCAGG GGGCCTGGGTCTGCTCCTGACCCCTGTGGCTAGCTCCCATGTAGACACAG CATCTGAGGTATAACAACACTGGACTGGAAATGAAGCTCTCCGAGTCAAG GCATCAAGAAAGTTATTGAGCACCTACTACAGGAAGGCATATATGATGGT AGAGATGCAGGTGAGTAAATATTTAGGGTTGCCAGACATTCTCACCCGAT GGCTTCCATGTTCTCTGGCAAACAGAAGATGATGTCATCAGCTGAGAGTG AGAAAGGAACTTGCTTTAGGTTGAGAAGATGCAAAGTTTGTTTTTGTTTT GTTTTGTTTTGTTTGTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTG CAGTGCAGTGGCACAATCTTGGCTCACTGCAGTCTCCACCTCCCAGGTTC AAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCA CCACCACGCCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGGTTTCACC ATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGCGCCTCAGCCTCC CAAAGTGCTGGGATTACAGGCATGAGCCACTGTACCAGCCAGATAGCCAG ATGCAAAGAACTGAAATGGCTGCAGTAGTTGTTTGTAATAGAAAAACCTG GGAACAACCACCATGTCCATTAATAAGGAACTGGACAGCCGGGGTATACC ATTTCATGCTGTGACAAGGGATGAAGTCCACAGAGGTATGCTGATCTCCA AGCTATTGTTAAATAAGAAAATAAAATCTCCTAGATCTAGACATCCTTTG GGCAATATCTTACACTTATACAAAGGAGAGGTTAACCCCATCCTAGATAA TAAATGCCAAAGTGTTGAGAAAAGTTCAAAAGCTACCCAATTTGTTTTTA TTAGGACATGAAATAAACATTCAGAAAAGCAATAAGACACACACACACAC ACACAAAACAAACACAAAAGTGCAGCTTGACAAATTATTGTAAAAGGAAC ACCCACATCAAGACAGAAAACATAATGTCAGCCAGGTGCGGTAGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGT CAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	378	0.0027	2748	c.372 others(2763): Show c.372+779_372+780insGCATGGTGGTAAGCACCTGTAATCCCAGCT ACTCAGGAGGCTGAGGAGCCATGAGAATTGCTTGAGCCCGGGAGGCAGAG GATGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGTATGACAGAG CGAGACCCTGTCTCAATCATATATATATATATATATATTTTTTTTTTTTT TTTTTAAACCATATATATATTTTAAAATCACGTATATGATTCAGTGATTT TTTTTCTTCCTTTGCACACAAAACTATAATAATTGAGCTATTTCTGACTG GTACAAAATGTCAACGTTTTAGTTACAAAATAATGCTACTTTTGACTCTT TGAAAAGCATTTTTTTGTGGGTTTTTTTTTTTTTTTTTGACAGAGTTTTG CTCTTGCCCAGGCCGGAGTGCAATGGTGTGATCTCGGCTCACTGCAAACC TCTGCCTCCCGGTTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAGCT GGGATTACAGGCGCCCACCACCCCCCCCCAGCTAATTTTTGTATTTTTAG TAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACC TCGTGATCCACCCACCTCGTAATCCTCCCAAAGTGCTGGGATTACAGGCC TGAGCCATCATGCCTGGCCTGAAAAGCAGTTTTTAAAAAATCATCTATGA TCTCACTGGCAGCATTGTATCATTCATACTTTCTAACCTTTATTCTGTTC TAGATGTTCTATTGCACATGGCAAGATCACACAATATCACAGTGTTGTTC ATAAAGCAATAACTGATTTTAGCTTTTTATTATGGAAATGTTAAAAAATA CGCAAAGTAGGCTGGGCATGGTGGCTCATGTATGTAATCCCAGCACTTTG GGAGGCCGAGTTGGGTGGATTGCTTCAGGCCAGGAGTTCGAGACCAGCCT GGGCAACATGGCAAAATCCCATCTCTACCAAAAATACAAAAATCAGCTGG GTGTGGTGATGCACACCTACAGTCTCAGATACTCAGGAGGCTGAGGCAGG AGGATTAGGATAACTTGAGACCGGTAGGTTGAGGCTACAGTGAGCCATAA TTGTGCCACAGCACTCCAGTCTGGGGGACAGAATGAGACCCTGTCTCAAA CACACACACACACACACACACACACACACACACACGTAGAAAAAGCTTAG GAGTCAGAAATCATGTTAAAAATCCTTCTGGCTGGATGCAGTGGCTCATG CCTGTAATCCCTGCACTTTGGGAGGCCATGCGGGGAGAATCACTTGAGTC CAGGATTTCAAGACCAGCCTGGGCAACAGAGCAAGACCTCATCTCTACTA AAGATTTTTTTTAAATTAGCCGGGCCTGGTGGCGAGTGCCTGTGGTCCCA GCTACTCCAGAGGATGAAGTGGGAGGAACACTTGAGCCCAGGAGTTGGAA GCTGCAGTGAGCTATGATCACGCCACTGCAGTCTAGCCTGAGTGACAGAG AATAGTTCAATTCTGTATTAAGGGCAGGGATATATGGGTAAGTAACCTCC CTTGGAGGTAATCCCAAAAGTCTGAAAGCAAGACCTTTGGTGAGCAGGGG GCCTGGGTCTGCTCCTGACCCCTGTGGCTAGCTCCCATGTAGACACAGCA TCTGAGGTATAACAACACTGGACTGGAAATGAAGCTCTCCGAGTCAAGGC ATCAAGAAAGTTATTGAGCACCTACTACAGGAAGGCATATATGATGGTAG AGATGCAGGTGAGTAAATATTTAGGGTTGCCAGACATTCTCACCCGATGG CTTCCATGTTCTCTGGCAAACAGAAGATGATGTCATCAGCTGAGAGTGAG AAAGGAACTTGCTTTAGGTTGAGAAGATGCAAAGTTTGTTTTTGTTTTGT TTTGTTTTGTTTGTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGCA GTGCAGTGGCACAATCTTGGCTCACTGCAGTCTCCACCTCCCAGGTTCAA GCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACC ACCACGCCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGGTTTCACCAT GTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGCGCCTCAGCCTCCCA AAGTGCTGGGATTACAGGCATGAGCCACTGTACCAGCCAGATAGCCAGAT GCAAAGAACTGAAATGGCTGCAGTAGTTGTTTGTAATAGAAAAACCTGGG AACAACCACCATGTCCATTAATAAGGAACTGGACAGCCGGGGTATACCAT TTCATGCTGTGACAAGGGATGAAGTCCACAGAGGTATGCTGATCTCCAAG CTATTGTTAAATAAGAAAATAAAATCTCCTAGATCTAGACATCCTTTGGG CAATATCTTACACTTATACAAAGGAGAGGTTAACCCCATCCTAGATAATA AATGCCAAAGTGTTGAGAAAAGTTCAAAAGCTACCCAATTTGTTTTTATT AGGACATGAAATAAACATTCAGAAAAGCAATAAGACACACACACACACAC ACAAAACAAACACAAAAGTGCAGCTTGACAAATTATTGTAAAAGGAACAC CCACATCAAGACAGAAAACATAATGTCAGCCAGGTGCGGTAGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGTCA GGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAA AATACAAAAATTAGCCAG	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A11_chr16_24840963_24916626	24872977	A A	AAAAAATA others(2741): Show AAAAAATACAAAAATTAGCCAGGCATGGTGGTAAGCACCTGTAATCCCAG CTACTCAGGAGGCTGAGGAGCCATGAGAATTGCTTGAGCCCGGGAGGCAG AGGATGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGTATGACAG AGCGAGACCCTGTCTCAATCATATATATATATATATATTTTTTTTTTTTT TTTTTTTAAACCATATATATATTTTAAAATCACGTATATGATTCAGTGAT TTTTTTTCTTCCTTTGCACACAAAACTATAATAATTGAGCTATTTCTGAC TGGTACAAAATGTCAACGTTTTAGTTACAAAATAATGCTACTTTTGACTC TTTGAAAAGCATTTTTTTGTGGGTTTTTTTTTTTTTTTTTGACAGAGTTT TGCTCTTGCCCAGGCCGGAGTGCAATGGTGTGATCTCGGCTCACTGCAAA CCTCTGCCTCCCGGTTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAG CTGGGATTACAGGCGCCCACCACCCCCCCCCAGCTAATTTTTGTATTTTT AGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACCCCTGA CCTCGTGATCCACCCACCTCGTAATCCTCCCAAAGTGCTGGGATTACAGG CCTGAGCCATCATGCCTGGCCTGAAAAGCAGTTTTTAAAAAATCATCTAT GATCTCACTGGCAGCATTGTATCATTCATACTTTCTAACCTTTATTCTGT TCTAGATGTTCTATTGCACATGGCAAGATCACACAATATCACAGTGTTGT TCATAAAGCAATAACTGATTTTAGCTTTTTATTATGGAAATGTTAAAAAA TACGCAAAGTAGGCTGGGCATGGTGGCTCATGTATGTAATCCCAGCACTT TGGGAGGCCGAGTTGGGTGGATTGCTTCAGGCCAGGAGTTCGAGACCAGC CTGGGCAACATGGCAAAATCCCATCTCTACCAAAAATACAAAAATCAGCT GGGTGTGGTGATGCACACCTACAGTCTCAGATACTCAGGAGGCTGAGGCA GGAGGATTAGGATAACTTGAGACCGGTAGGTTGAGGCTACAGTGAGCCAT AATTGTGCCACAGCACTCCAGTCTGGGGGACAGAATGAGACCCTGTCTCA AACACACACACACACACACACACACACACACACACACGTAGAAAAAGCTT AGGAGTCAGAAATCATGTTAAAAATCCTTCTGGCTGGATGCAGTGGCTCA TGCCTGTAATCCCTGCACTTTGGGAGGCCATGCGGGGAGAATCACTTGAG TCCAGGATTTCAAGACCAGCCTGGGCAACAGAGCAAGACCTCATCTCTAC TAAAGATTTTTTTTAAATTAGCCGGGCCTGGTGGCGAGTGCCTGTGGTCC CAGCTACTCCAGAGGATGAAGTGGGAGGAACACTTGAGCCCAGGAGTTGG AAGCTGCAGTGAGCTATGATCACGCCACTGCAGTCTAGCCTGAGTGACAG AGAATAGTTCAATTCTGTATTAAGGGCAGGGATATATGGGTAAGTAACCT CCCTTGGAGGTAATCCCAAAAGTCTGAAAGCAAGACCTTTGGTGAGCAGG GGGCCTGGGTCTGCTCCTGACCCCTGTGGCTAGCTCCCATGTAGACACAG CATCTGAGGTATAACAACACTGGACTGGAAATGAAGCTCTCCGAGTCAAG GCATCAAGAAAGTTATTGAGCACCTACTACAGGAAGGCATATATGATGGT AGAGATGCAGGTGAGTAAATATTTAGGGTTGCCAGACATTCTCACCCGAT GGCTTCCATGTTCTCTGGCAAACAGAAGATGATGTCATCAGCTGAGAGTG AGAAAGGAACTTGCTTTAGGTTGAGAAGATGCAAAGTTTGTTTTTGTTTT GTTTTGTTTTGTTTGTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTG CAGTGCAGTGGCACAATCTTGGCTCACTGCAGTCTCCACCTCCCAGGTTC AAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCA CCACCACGCCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGGTTTCACC ATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGCGCCTCAGCCTCC CAAAGTGCTGGGATTACAGGCATGAGCCACTGTACCAGCCAGATAGCCAG ATGCAAAGAACTGAAATGGCTGCAGTAGTTGTTTGTAATAGAAAAACCTG GGAACAACCACCATGTCCATTAATAAGGAACTGGACAGCCGGGGTATACC ATTTCATGCTGTGACAAGGGATGAAGTCCACAGAGGTATGCTGATCTCCA AGCTATTGTTAAATAAGAAAATAAAATCTCCTAGATCTAGACATCCTTTG GGCAATATCTTACACTTATACAAAGGAGAGGTTAACCCCATCCTAGATAA TAAATGCCAAAGTGTTGAGAAAAGTTCAAAAGCTACCCAATTTGTTTTTA TTAGGACATGAAATAAACATTCAGAAAAGCAATAAGACACACACACACAC ACACAAAACAAACACAAAAGTGCAGCTTGACAAATTATTGTAAAAGGAAC ACCCACATCAAGACAGAAAACATAATGTCAGCCAGGTGCGGTAGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGT CAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0320 a0001c0004t0004g0320	1	378	0.0027	2748	c.372 others(2763): Show c.372+779_372+780insGCATGGTGGTAAGCACCTGTAATCCCAGCT ACTCAGGAGGCTGAGGAGCCATGAGAATTGCTTGAGCCCGGGAGGCAGAG GATGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGTATGACAGAG CGAGACCCTGTCTCAATCATATATATATATATATATTTTTTTTTTTTTTT TTTTTAAACCATATATATATTTTAAAATCACGTATATGATTCAGTGATTT TTTTTCTTCCTTTGCACACAAAACTATAATAATTGAGCTATTTCTGACTG GTACAAAATGTCAACGTTTTAGTTACAAAATAATGCTACTTTTGACTCTT TGAAAAGCATTTTTTTGTGGGTTTTTTTTTTTTTTTTTGACAGAGTTTTG CTCTTGCCCAGGCCGGAGTGCAATGGTGTGATCTCGGCTCACTGCAAACC TCTGCCTCCCGGTTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAGCT GGGATTACAGGCGCCCACCACCCCCCCCCAGCTAATTTTTGTATTTTTAG TAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACCCCTGACC TCGTGATCCACCCACCTCGTAATCCTCCCAAAGTGCTGGGATTACAGGCC TGAGCCATCATGCCTGGCCTGAAAAGCAGTTTTTAAAAAATCATCTATGA TCTCACTGGCAGCATTGTATCATTCATACTTTCTAACCTTTATTCTGTTC TAGATGTTCTATTGCACATGGCAAGATCACACAATATCACAGTGTTGTTC ATAAAGCAATAACTGATTTTAGCTTTTTATTATGGAAATGTTAAAAAATA CGCAAAGTAGGCTGGGCATGGTGGCTCATGTATGTAATCCCAGCACTTTG GGAGGCCGAGTTGGGTGGATTGCTTCAGGCCAGGAGTTCGAGACCAGCCT GGGCAACATGGCAAAATCCCATCTCTACCAAAAATACAAAAATCAGCTGG GTGTGGTGATGCACACCTACAGTCTCAGATACTCAGGAGGCTGAGGCAGG AGGATTAGGATAACTTGAGACCGGTAGGTTGAGGCTACAGTGAGCCATAA TTGTGCCACAGCACTCCAGTCTGGGGGACAGAATGAGACCCTGTCTCAAA CACACACACACACACACACACACACACACACACACGTAGAAAAAGCTTAG GAGTCAGAAATCATGTTAAAAATCCTTCTGGCTGGATGCAGTGGCTCATG CCTGTAATCCCTGCACTTTGGGAGGCCATGCGGGGAGAATCACTTGAGTC CAGGATTTCAAGACCAGCCTGGGCAACAGAGCAAGACCTCATCTCTACTA AAGATTTTTTTTAAATTAGCCGGGCCTGGTGGCGAGTGCCTGTGGTCCCA GCTACTCCAGAGGATGAAGTGGGAGGAACACTTGAGCCCAGGAGTTGGAA GCTGCAGTGAGCTATGATCACGCCACTGCAGTCTAGCCTGAGTGACAGAG AATAGTTCAATTCTGTATTAAGGGCAGGGATATATGGGTAAGTAACCTCC CTTGGAGGTAATCCCAAAAGTCTGAAAGCAAGACCTTTGGTGAGCAGGGG GCCTGGGTCTGCTCCTGACCCCTGTGGCTAGCTCCCATGTAGACACAGCA TCTGAGGTATAACAACACTGGACTGGAAATGAAGCTCTCCGAGTCAAGGC ATCAAGAAAGTTATTGAGCACCTACTACAGGAAGGCATATATGATGGTAG AGATGCAGGTGAGTAAATATTTAGGGTTGCCAGACATTCTCACCCGATGG CTTCCATGTTCTCTGGCAAACAGAAGATGATGTCATCAGCTGAGAGTGAG AAAGGAACTTGCTTTAGGTTGAGAAGATGCAAAGTTTGTTTTTGTTTTGT TTTGTTTTGTTTGTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGCA GTGCAGTGGCACAATCTTGGCTCACTGCAGTCTCCACCTCCCAGGTTCAA GCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACC ACCACGCCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGGTTTCACCAT GTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGCGCCTCAGCCTCCCA AAGTGCTGGGATTACAGGCATGAGCCACTGTACCAGCCAGATAGCCAGAT GCAAAGAACTGAAATGGCTGCAGTAGTTGTTTGTAATAGAAAAACCTGGG AACAACCACCATGTCCATTAATAAGGAACTGGACAGCCGGGGTATACCAT TTCATGCTGTGACAAGGGATGAAGTCCACAGAGGTATGCTGATCTCCAAG CTATTGTTAAATAAGAAAATAAAATCTCCTAGATCTAGACATCCTTTGGG CAATATCTTACACTTATACAAAGGAGAGGTTAACCCCATCCTAGATAATA AATGCCAAAGTGTTGAGAAAAGTTCAAAAGCTACCCAATTTGTTTTTATT AGGACATGAAATAAACATTCAGAAAAGCAATAAGACACACACACACACAC ACAAAACAAACACAAAAGTGCAGCTTGACAAATTATTGTAAAAGGAACAC CCACATCAAGACAGAAAACATAATGTCAGCCAGGTGCGGTAGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGTCA GGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAA AATACAAAAATTAGCCAG	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIC_chr12_101470336_101491997	101484138	A A	AGAAAGCT others(2741): Show AGAAAGCTTTTTTTTTTTTTTTTTTTTATTTATTTATTTATTTATTTTTT TTATTTTATTTTTTTTTTTTTATTGATCATTCTTGGGTGTTTCTCGCAGA GGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGAT AAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGC CTTCCGCAGCGTTTGTGTCCCTGGGTACTTAAGATTAGGGAGTGGTGATG ACTCTCAACGAGCATGCTGCCCTCAAGCATCTGTTCAACAAAGCACATCT TGCACCGCCCTTAATCCATCTAACCCTGAGTGGACACAGCACATGTCTCA GAGAGCACAGGGTTGGGGATAAGGTCACAGATCAACAGGATCCCAAGGCA GAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACT TCTATCCACACAGACCCAGCAACCATCCGATTTCTCAATTTTTTCCCCAC CCTTCCCGCCTTTCTATTCCACAAAACCGCCATTGTCATCATGGCCCATC CCCAATGAGCCGCTGGGCACACCTCCCAGACGGGGTCGTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCCGGCAGAAGTGCCCCTCACC TCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCTCCGCCCT CCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGATAGGGCGGCTGGCCGG GCGGGGGGCTGTTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGGGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC AGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGG CGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCC CTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCC TCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCG ACCCCCCCCCGCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGACGGGG TGGTTGCCAGACGGAGGGGCTCCTCACTTCTCAGACGGGGCGGTTGCCAG GCAGAGGGTTTCCTCACTTCTCAGACGGAGCGGCCGGGCAGAGACACTCC TCACCTCCCAGACAGGGTTGCGGCCCAGCAGAGGCGCTCCTCACATCCCA GACAGGGCGGCGGGGCAGAGGTGCTCCCCACATCTCAGACGATGGGCGGC CGGGCAGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCGGGGAAGAGG CGCTTCTCGCCTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCAC TTTCCACACTGGGCAGCCAGGCAGAGGGGCTCCTCATATCCCAGACGATG GGTGGCCAAGCAGAGACGCTCCTCACTTCCCAGACGGGGGTGGCGGCCGG GCAGAGGCTGCAATCTCGGCTCTCCGGGAGGCCAAGGCAGGCGGCTGGGA GGTGGCTGCAGCGAGCCGAGATCACGCCACCGCACTCCAGCCTGGGCACC ATTGAGCACTGAGTGAACGAGACTCCATCTGCAATCCCGGCACCTCGGGA GGCCGAGGCTGGCGGATCACTCGCGGCCAGGAGCTGGAGACCAGCCCGGC CAACACAGCGAAACCCCATCTCCACCAAAAAAAAACGAAAACCAGTCAGG CGTGGCGGCGCGCGCCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAGGA GAATCAGGCAGGGAGGTCGCAGTGAGCCGAGATGGCAGCAGTACCGTCCA GCTTTGGCTCGGCATGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGA CGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAG AGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAG ACGGGAGAGGGAGACGGGAGCGTTTAGTCCGGCATTCTCCTTTACACTC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	398	0.0025	2748	c.319 others(2765): Show c.319+1251_319+1252insTTTTTTTTTTTTTATTTATTTATTTATT TATTTTTTTTATTTTATTTTTTTTTTTTTATTGATCATTCTTGGGTGTTT CTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGT CAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGAC CCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTAAGATTAGGGAG TGGTGATGACTCTCAACGAGCATGCTGCCCTCAAGCATCTGTTCAACAAA GCACATCTTGCACCGCCCTTAATCCATCTAACCCTGAGTGGACACAGCAC ATGTCTCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATCAACAGGATC CCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCA TGTCTACTTCTATCCACACAGACCCAGCAACCATCCGATTTCTCAATTTT TTCCCCACCCTTCCCGCCTTTCTATTCCACAAAACCGCCATTGTCATCAT GGCCCATCCCCAATGAGCCGCTGGGCACACCTCCCAGACGGGGTCGTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCCGGCAGAAGTGC CCCTCACCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC TCCGCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGATAGGGCGG CTGGCCGGGCGGGGGGCTGTTCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGATCCC CCCACCTCCCTCCCGGACGGGGGGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCAGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGC TGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCC CCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCC CACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCG GCTGGCCGACCCCCCCCCGCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCC AGACGGGGTGGTTGCCAGACGGAGGGGCTCCTCACTTCTCAGACGGGGCG GTTGCCAGGCAGAGGGTTTCCTCACTTCTCAGACGGAGCGGCCGGGCAGA GACACTCCTCACCTCCCAGACAGGGTTGCGGCCCAGCAGAGGCGCTCCTC ACATCCCAGACAGGGCGGCGGGGCAGAGGTGCTCCCCACATCTCAGACGA TGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCGG GGAAGAGGCGCTTCTCGCCTCCTAGATGGGATGGCGGCCGGGCAGAGACG CTCCTCACTTTCCACACTGGGCAGCCAGGCAGAGGGGCTCCTCATATCCC AGACGATGGGTGGCCAAGCAGAGACGCTCCTCACTTCCCAGACGGGGGTG GCGGCCGGGCAGAGGCTGCAATCTCGGCTCTCCGGGAGGCCAAGGCAGGC GGCTGGGAGGTGGCTGCAGCGAGCCGAGATCACGCCACCGCACTCCAGCC TGGGCACCATTGAGCACTGAGTGAACGAGACTCCATCTGCAATCCCGGCA CCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGCCAGGAGCTGGAGACC AGCCCGGCCAACACAGCGAAACCCCATCTCCACCAAAAAAAAACGAAAAC CAGTCAGGCGTGGCGGCGCGCGCCTGCAATCGCAGGCACTCGGCAGGCTG AGGCAGGAGAATCAGGCAGGGAGGTCGCAGTGAGCCGAGATGGCAGCAGT ACCGTCCAGCTTTGGCTCGGCATGAGAGGGAGAGGGAGACGGGAGAGGGA GAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGG AGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGG AGAGGGAGACGGGAGAGGGAGACGGGAGCGTTTAGTCCGGCATTCTCCTT TACACTCGAAAGCTTTTTTT	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPTLC2_chr14_77500997_77621637	77578794	T T	TAAAAAGC others(2741): Show TAAAAAGCTCAACAATGGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCAC GGTCTCCCTCTGATGCCGAGCCAAGGCTGGACGGTACTGCTGCCATCTCG GCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGC CTGCGATTGCAGGCGCGCACCGCCACGCCTGACTGGTTTTCGTTTTTTTT TTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCC TAGCCGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCA GATGGAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAG TGGCGTGATCTCGGCTCGCTGCAACCACCTCCCAGCCGCCTGCCTTGGCC TCCCGGAGAGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGG AAGTGAGGAGCGTCTCTGCTTGGCCACCCATCGTCTGGGATGTGAGGAGC CCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGC CGCCATCCCATCTGGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCA TCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTG GGGAGCACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTG CTGGGCCGCAGCCCTGTCTGGGAGGTGGGGAGCGTCTCTGCCCGGCCGCT CCGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGA AGTGAGGAGCCCCTCCGTCCGGCAACCACCCCGTCTGGGAAGTGAGGAGC GTCTCCGCCCAGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCC ATCCGGGAGGGAGGCAGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGACGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGACGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCC TGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCGGGA GGGAGGTGGGGGGGTCATCCCCCCACCTGGCCAGCCGCCCCATCCGGGAG GGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAACCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGTGGGGGGGGGGGGGGG GGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CTTCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGACAGCCCCCCGCCCAGCCAGCCGCCCTATCCAG GAGGTGAGGGGCGCCTCTGCCCGGCCGTCCCTACTGGGAAGTGAGGAGCC CCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCAT CTGGGAGGTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGG CGGTTTTGTGCAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAAT CGGATGGTTGCCGGGTCTCTGTGGATAGAAGTAGACATGGGAGACTTTTC ATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATC TGTGACCTTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCAC TCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGA TGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTA AGTACCCAGGGACACAAACACTGCGGAAGGCCAAGGCCGCAGGGTCCTCT GCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCC CTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACC CAAGAATGATCAATAAAAAAAAAATAAATAAATTAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0154 a0001c0002t0006g0154	1	246	0.0041	2748	c.482 others(2763): Show c.482+160_482+161insTTTTTTTTTTTTTTTAATTTATTTATTTTT TTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGG TCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAG GTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTGGCCTTCCGCAGT GTTTGTGTCCCTGGGTACTTAAGATTAGGGAGTGGTGATGACTCTTAACG AGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCC TTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAG GGTTGGGGATAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTT TCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTATCCACA GAGACCCGGCAACCATCCGATTTCTCAATTTTTTCCCCACCCTTCCCGCC TTTCTATTGCACAAAACCGCCATTGTCATCATGGCCCATCCCCAATGAGC CGCTGGGCACACCTCCCAGATGGGGTCGTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAAGCGCCCCTCACCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCACCCTCCCGGACGGG GCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGACGGCCGGG CAGAGGCGCCCCTCACCTCCTGGATAGGGCGGCTGGCTGGGCGGGGGGCT GTCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCCGGCCGGAAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGACCCCCCCCCCCCCCCCCCACCCCGCCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGTTCCTCACTTTCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGACTGGCCAGGCG GGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGG GGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGGG GATGACCCCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGATGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGG ACTGGGCGTCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGA CGGGGCGTCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCC CCCTGCCTCCCTCCCGGATGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GTGGCTGCTGGGCGGAGACGCTCCTCACTTCCCAGACGGGGTGGTTGCCG GACGGAGGGGCTCCTCACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGT TTCCTCACTTCTCAGACGGAGCGGCCGGGCAGAGACGCTCCCCACCTCCC AGACAGGGCTGCGGCCCAGCAGAGGCGCTCCTCACATCCCAGACAGGGCG GCGGGGCAGAGGTGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAG ACGCTCCTCACTTCCTAGATGGGATGGCGGCGGGGAAGAGGCGCTCCTCG CTTCCCAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGAC TGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGTGGCCAA GCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTG CAATCTCGGCTCTCCGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGTTGCA GCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACT GAGTGAACGAGACTCCATCTGCAATCCCGGCACCTCGGGAGGCCGAGGCT GGCGGATCACTCGCGGCTAGGAGCTGGAGACCAGCCCGGCCAACACAGCG AAACCCCGTCTCCACCAAAAAAAAAAACGAAAACCAGTCAGGCGTGGCGG TGCGCGCCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAGGAGAATCAGG CAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACCGTCCAGCCTTGGC TCGGCATCAGAGGGAGACCGTGGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGGGGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GCCATTGTTGAGCTTTTT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	3/11			chr14	TogoVar
STON2_chr14_81255652_81405324	81320429	G G	GACCATTT others(2741): Show GACCATTTTTTTTTTTAATTTATTTATTTATTTTTTTTATTGATCATTCT TGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGG AGGGAAGGTCAGTAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAG GCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTAAG ATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTG TTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGG ACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATC AACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAA AGTCTCCCAGGTCTACTTCTATCCACACAGACCCGGCAACCATCCGATTT CTCAATTTTTTCCCCACTCTTCCCGCCTTTCTATTCCACAAAACCGCCAT TGTCATCATGGCCCATCCCCAATGAGCCGCTGGGCACACCTCCCAGACGG GGTCGTGGCCGGGCAGAGGGGCTCCTCATTTCCCAGTAGGGGTGGCCGGG CAGAAGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGTCCCTCACCTCCCGG ACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CAGGGCGGCTGGCCGACCCCCCCCCCGCCCCGCCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCTCACCTCCCTCCCGGGC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCACCACCTCCCTCCCGGACTGGGCGGCTGACCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGTC GGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGACGGGGTGGCTG CCGGACGGAGGGGCTCCTCACTTCTCAGACGGGGCGGTTGCCAGGCAGAG GGTTTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCT CCCAGACAGGGTTGCGGCCCAGCAGAGGCGCTCCTCACATCCCAGACAGG GCGGCGGGGCAGAGGTGCTCCCCACATCTCAGACGATGGGCAGCCGGGCA GAGACGCTCCTCACTTCCTAGATGGGATGGCGGCGGGGAAGAGGCGCTCC TCGCTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCA GACTGGGCAGCCAGGCAGAGAGGCTCCTCATATCCCAGACGATGGGGGGC CAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCTGGGCAGAGG CTGCAATCTCGGCACTTTGGGGGGCCAAGGCAGGCGGCTGGGAGGTGGAG GTTGTAGCGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCACCATTG AGCACTGAGTGAACAAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCC GAGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAAC ACAGCAAAACCCCGTCTCCACCAAAAAAAAAAAAACGAAAACCAGTCAGG CGTGGCGGCGCGCGCCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAGGA GAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACCGTCCA GCTTTGGCTCGGCATCAGAGGGAGACCGTGGAAGGAGACCGTGGGAAGGG GGAGAGGGGAGAGGGGAGAGGGGAGATACCATAAAGTCTTTTATCCCTAA CAAATGTTTTTTGAATACCTTCCACATGCATGTTCCCAGGAAAGACTTAT ACAGGCCAGGTGTGGTGGCTCACGCCCTTGTAATCCCAGCACTGTAGGAG GCCAAGGTGGGGACATTGTTTGAGCCTGGGAGTTCAAGACCAGCCTGGC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01943.hp1 HG01074.hp2 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0214 a0002c0002t0012g0225 a0002c0002t0012g0214 a0002c0002t0012g0225	2	264	0.0076	2748	c.742 others(2765): Show c.742+3587_742+3588insGCCAGGCTGGTCTTGAACTCCCAGGCTC AAACAATGTCCCCACCTTGGCCTCCTACAGTGCTGGGATTACAAGGGCGT GAGCCACCACACCTGGCCTGTATAAGTCTTTCCTGGGAACATGCATGTGG AAGGTATTCAAAAAACATTTGTTAGGGATAAAAGACTTTATGGTATCTCC CCTCTCCCCTCTCCCCTCTCCCCCTTCCCACGGTCTCCTTCCACGGTCTC CCTCTGATGCCGAGCCAAAGCTGGACGGTACTGCTGCCATCTCGGCTCAC TGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCGA TTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGTTTTTTTTTTTTTG GTGGAGACGGGGTTTTGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAAC CGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGACG GAGTCTTGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGC GTGATCTTGGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCC CCCAAAGTGCCGAGATTGCAGCCTCTGCCCAGCCGCCACCCCGTCTGGGA AGTGAGGAGCGTCTCTGCCTGGCCCCCCATCGTCTGGGATATGAGGAGCC TCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCC GCCATCCCATCTAGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCAT CTAGGAAGTGAGGAGCGTCTCTGCCCGGCTGCCCATCGTCTGAGATGTGG GGAGCACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGC TGGGCCGCAACCCTGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCC CGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAA GTGAGGAGCCCCTCCGTCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCG TCTCCGCCCGGCAGCCACCCCGACCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG TCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGTCAGCCGCCCAG TCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGATCA GCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGCCCGGGAGGGAGGTGAGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCC CCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGCGGGGG GGGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGACGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGACCCCTCTGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCTTCTGCCCGGCCACCCCTACTGGGAAATGAGGAG CCCCTCTGCCCGGCCACGACCCCGTCTGGGAGGTGTGCCCAGCGGCTCAT TGGGGATGGGCCATGATGACAATGGCGGTTTTGTGGAATAGAAAGGCGGG AAGAGTGGGGAAAAAATTGAGAAATCGGATGGTTGCCGGGTCTGTGTGGA TAGAAGTAGACCTGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATT CTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATCCCCAACCCTGTGC TCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGG TGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAA GAGTCATCACCACTCCCTAATCTTAAGTACCCAGGGACACAAACACTGCG GAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTT GTTTATCTACTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATC CCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAATAAATAAAT AAATTAAAAAAAAAAATGGT	STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7			chr14	TogoVar
UTRN_chr6_144280335_144858034	144288550	T T	TTTGATTC others(2741): Show TTTGATTCTTTTTTTTTTTTTTTTATTTTTTTTTTATTTTTTATTTTTTA TTTTTTATTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTT GGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTG AACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAG TGTTTGTGTCCCTGGGTACTTAAGATTAGGGAGTGGTGATGACTCTTAAC GAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCC CTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACA GGGTTGGGGATAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTT TTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTATCCAC ACAGACCCCGCAACCATCCGATTTCTCAATTTTTTCCCCACCCTTCCCGC CTTTCTATTCCACAAAACCGCCATTGTCATCATGGCCCATCCCCAATGAG CCGCTGGGCACACCTCCCAGACGGGGTCGTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCCGGCAGAAGTGCCCCTCACCTCCCAGATG GGGCGGCTGGCCGGGAGGGGGGCTGACCCCCCCACCGCCCTCCCGGACGG GGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCTGGATAGGGCGGCTGGCCGGGCGGGGGGC TGTTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCAGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGG GGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGG CTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCT GACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGAC TGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACG GGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCC CCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCC GGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGACGGGGTG GTTGCCAGACGGAGGGGCTCCTCACTTCTCAGACGGGGCGGTTGCCAGGC AGGGGGTTTCCTCACTTCTCAGACCGAGCGGCCGGGCAGAGACACTCCTC ACCTCCCAGACAGGGTTGCGGCCCAGCAGAGGCGCTCCTCACATCCCAGA CAGGGCGGTGGGGCAGAGGTGCTCCCCACATCTCAGACGATGGGCGGCCG GGCAGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCGGGGAAGAGGCG CTTCTCGCTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTT TCCACACTGGGCAGCCAGGCAGAGGGGCTCCTCATATCCCAGACGATGGG TGGCCAAGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCA GAGGCTGCAATCTCGGCTCTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGT GGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATT GAGCACTGAGTGAACGAGACTCCATCTGCAATCCCGGCACCTCGGGAGGC CGAGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAA CACAGCGAAACCCCATCTCCACCAAAAAAAAAACGAAAACCAGTCAGGCG TGGCGGCGCGCGCCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAGGAGA ATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACCGTCCAGC TTTGGCTCGGCATGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACG GGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAG GGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGA GGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGCCATTACC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0014 a0001c0011t0014	a0001c0011t0014g0122 a0001c0011t0014g0122	1	128	0.0078	2748	c.-93 others(2765): Show c.-93+2738_-93+2739insTTTTTTTTTTTTTTATTTTTTTTTTATT TTTTATTTTTTATTTTTTATTTTTATTGATCATTCTTGGGTGTTTCTCGC AGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCA GATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGC GGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTAAGATTAGGGAGTGGTG ATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACA TCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTT TCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATCAACAGGATCCCAAG GCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCT ACTTCTATCCACACAGACCCCGCAACCATCCGATTTCTCAATTTTTTCCC CACCCTTCCCGCCTTTCTATTCCACAAAACCGCCATTGTCATCATGGCCC ATCCCCAATGAGCCGCTGGGCACACCTCCCAGACGGGGTCGTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCCGGCAGAAGTGCCCCTC ACCTCCCAGATGGGGCGGCTGGCCGGGAGGGGGGCTGACCCCCCCACCGC CCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGATAGGGCGGCTGGC CGGGCGGGGGGCTGTTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGATCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCAGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC AGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACC TCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCT CCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGG CCGACCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTC CCAGACGGGGTGGTTGCCAGACGGAGGGGCTCCTCACTTCTCAGACGGGG CGGTTGCCAGGCAGGGGGTTTCCTCACTTCTCAGACCGAGCGGCCGGGCA GAGACACTCCTCACCTCCCAGACAGGGTTGCGGCCCAGCAGAGGCGCTCC TCACATCCCAGACAGGGCGGTGGGGCAGAGGTGCTCCCCACATCTCAGAC GATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGGGATGGCGGC GGGGAAGAGGCGCTTCTCGCTTCCTAGATGGGATGGCGGCCGGGCAGAGA CGCTCCTCACTTTCCACACTGGGCAGCCAGGCAGAGGGGCTCCTCATATC CCAGACGATGGGTGGCCAAGCAGAGACGCTCCTCACTTCCCAGACGGGGT GGCGGCCGGGCAGAGGCTGCAATCTCGGCTCTTTGGGAGGCCAAGGCAGG CGGCTGGGAGGTGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGC CTGGGCACCATTGAGCACTGAGTGAACGAGACTCCATCTGCAATCCCGGC ACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAGAC CAGCCCGGCCAACACAGCGAAACCCCATCTCCACCAAAAAAAAAACGAAA ACCAGTCAGGCGTGGCGGCGCGCGCCTGCAATCGCAGGCACTCGGCAGGC TGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCA GTACCGTCCAGCTTTGGCTCGGCATGAGAGGGAGAGGGAGACGGGAGAGG GAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACG GGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAG GGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGA GGGCCATTACCTTGATTCTT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	1/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
ZNF229_chr19_44421254_44453472	44449685	T T	TGAAAGGT others(2741): Show TGAAAGGTTTCGCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCGCTCTCCGTCTCCCTCTCGCTCTCCCTCTCCCCACG GTCTCCCTCTCATGCGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGG CTCACTGCATCCTCCCTGCCTGATTCTCCTGCCTCAGTCTGCCGAGTGCC TGCGATTGCAGGCACGCGCCGCCACGCCTGACTGGTTTTGGTGGAGACAG GGTTTCGCTGTGTTGGCCGGGCCGGTCTCCAGCCCCTAACCGCGAGTGAT CCGCCAACCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCTCGTT CACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGG CTCACTACAACCTACACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGC CGAGATTGCAGCCTCTGCCCGGCCGCCACCCCCGTCTGGGAAGTGAGGAG TGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCT GGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCA TCTAGGAAGTGAGGAGCACCTCTTCCCAGCCGCCATCACATCTAGGAAGT GAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCT CTGCCCCCGCCGCCCCATCTGGGATGTGAGGGGCGCCTCTGCCCGGCCGA GACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAG AAGTGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTGAGAAGTGAGGAG CCCCTCCGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCC CGGCAGCCACCCCATCTGGGAAGTGAGGAGCATCTCTGCCCAGCAGCCAC CCTGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCG CCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCCCGCCCGGCCAGCTG TGCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCTCCCGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGG GGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCTGGCCAGC CGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCCGCCCGACCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGG GGGTGTCAGCCCCACGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCCCGACCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCACCACC CCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGACA ATGGCGGCCTTGTGGAATAGAAAGGCGGGAAAGGCGGGGAAAAGATTGAG AAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACT TTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGTCTTGGGATCCTGTT GATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGT CCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAA CAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAAT CTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGC CTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCT CCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCA AGAATTATCAATAAAAAAATAAATTTAAAAAAATAAATAAATAAATAAAT AAATAAATAAAATAAAAAAAAAAAGCTAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0015 a0015	a0015c0026 a0015c0026	a0015c0026t0030 a0015c0026t0030	a0015c0026t0030g0079 a0015c0026t0030g0079	1	433	0.0023	2748	c.-16 others(2759): Show c.-1643_-1642insTTTTTTTTTTTTTTTTTTTTTTAGCTTTTTTTTT TTATTTTATTTATTTATTTATTTATTTATTTATTTTTTTAAATTTATTTT TTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTC ATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGT CTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGT CCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCT GCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCA TTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGG GTAAGGTCACAGATCAACAGGATCCCAAGACAGAGGAATTTTTCTTAGTG CAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACG GCAACCATCCGATTTCTCAATCTTTTCCCCGCCTTTCCCGCCTTTCTATT CCACAAGGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGC ACACCTCCCAGACGGGGTGGTGGCTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGTCGGGGGGGGCTGACCCCCCCCACCTCCCTCC TGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GTGGGGCTGACACCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGTCGGGCGG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGCGGCTGGCCAGGCGGAGGGCTGACCCCCCCACCTCCC TCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG TGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGG CTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGAGGGGGGCTGACCCCCCCACCT CCCTCCCGGATGGCACAGCTGGCCGGGCGGGGGGGGCTGACCCCCCACCT CCCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCACC TCCCTCCCGGACAGGGTGGCTGCTGGGCAGAGATGCTCCTCACTTCCCAG ATGGGGTGGCTGCCGGGCGGAGAGGCTCCTCACTTCTCAGACGGGGCAGC TGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGTGGTTGCCAGGCAG AGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCAC CTCCCAGACGGGGTCTCGGCCGGGCAGAGGCGCCCCTCACATCCCAGATG GGGCGGCGGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGG GCAGAGACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGGAAGAGGTGC TCCTCACTTCCTAGATGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTT CCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGC GGCCAGGCAGAGACACTCCTCACTTCCCAGACGGGGGTGGCGGCCGGGCA GAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGT GTAGGTTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACC ATTGAGCACTGAGTGAACGAGACTCCGTCTGCAATCCCGGCACCTCGGGA GGCCGAGGTTGGCGGATCACTCGCGGTTAGGGGCTGGAGACCGGCCCGGC CAACACAGCGAAACCCTGTCTCCACCAAAACCAGTCAGGCGTGGCGGCGC GTGCCTGCAATCGCAGGCACTCGGCAGACTGAGGCAGGAGAATCAGGCAG GGAGGATGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCC GCATGAGAGGGAGACCGTGGGGAGAGGGAGAGCGAGAGGGAGACGGAGAG CGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGCGAAACCTTTC	ZNF229	ENSG00000278318.5	transcript	ENST00000614049.5	protein_coding		1214		chr19	TogoVar
ACTN2_chr1_236681499_236769631	236713593	T T	TCTGTGTG others(2742): Show TCTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGAC TGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGA AGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTA TACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCT CACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGA CTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTG AAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGT ATACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTC CTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGA GACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCAC TGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTAT GTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATT CCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAG AGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCA CTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTA TGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCAT TCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAA GAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACC ACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTT ATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCA TTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCA AGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAC CACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTT TATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTC ATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGC AAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATA CCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGT TTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTT CATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATG CAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGAT ACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTG TTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCT TCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATA TGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAG ATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTG TGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAG CTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGAT ATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACA GATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGT GTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATA GCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGA TATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACAC AGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTG TGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGAT AGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGG ATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACA CAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACT GTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGA TAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGG GATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATAC ACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCAC TGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTG ATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAG GGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATA CACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0089	1	344	0.0029	2749	c.127 others(2766): Show c.127-3905_127-3904insACCACTGAAGGGATATGCAAGAGACTGA TAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGG GATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATAC ACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCAC TGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTG ATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAG GGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATA CACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCA CTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACT GATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAA GGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTAT ACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTC ACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGAC TGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGA AGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTA TACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCT CACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGA CTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTG AAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGT ATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCC TCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAG ACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACT GAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATG TATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTC CTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGA GACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAACCA CTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTA TGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCAT TCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCAA GAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATACC ACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTT ATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCA TTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCA AGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAC CACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTT TATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTC ATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGC AAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATA CCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGT TTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTT CATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATG CAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGAT ACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTG TTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCT TCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATAT GCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGA TACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGT GTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGC TTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATA TGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAG ATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTG TGTTTATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAG CTTCATTCCTCACTGTGTGTTTATGTATACACAGATACCACTGAAGGGAT ATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACA GATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGT GTGTTTATGTATACACAGATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARHGEF16_chr1_3449665_3486113	3477303	G G	GTCACCCC others(2742): Show GTCACCCCCACACTACCCACCCCCATCACCCCACAACCCACCCCCATCAC CCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCACAC TACCCATCCCCATCACCCCCACACGACCCACCCCCATCACCCCCACACTA CCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCA CCCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCC CCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCA TCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCA CCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCC CACACGACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCCAC ACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCCACACT ACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCCACACTACC CACCCCCATCACCCCACACTACCCACCCCCATCACCCCCACACTACCCAC CCCCATCACCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCC ATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATC ACCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCC CCACACTACCCACCCCATCACCCGCACACTACCCACCCCCATCACCCCAC ACTACCCATCCCCATCACCCCCACACGACCCACCCCATCACCCCACACGA CCCACCCCCATCACCCTCACTACCCACCCCCATCACCCCCACACTACCCA CCCCATCACCCCCACACTACCCACCCCCATCACCCCACACGACCCACCCC CATCACCCCACACTACCCACCCCCATCACCCCACACTACCCATCCCCATC ACCCCCACACGACCCACCCCATCACCCCACACTACCCACCCCCATCACCC CACACTACCCACCCCATCACCCTCACTACCCACCCCATCACCCCACACTA CCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACCCAC CCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCC ATCACCCCCACACTACCCACCCCATCACCCTCACTACCCACCCCATCACC CGCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCC ACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCCACA CTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTA CCCACCCCATCACCCCCACACTACCCACCCCATCACCCTCACTACCCACC CCATCACCCGCACACTACCCACCCCCATCACCCCCACACTACCCACCCCA TCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCA CCCTCACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCC ACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCTCACTA CCCACCCCATCACCCCACACTACCCACCCCATCACCCCCACACTACCCAC CCCCATCACCCTCACTACCCACCCCCATCACCCCCACACTACCCACCCCC ATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCA CCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCC CACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCCAC ACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCACAC TACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCACACTACC CACCCCCATCACCCCACACTACCCACCCCATCACCCCCACACTACCCACC CCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCA TCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCA CCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCC CCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCCA CACTACCCACCCCCATCAGCCCCACTACCCACCCCCATCACCCTCACTAC CCACCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCAC CCCCATCAGCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCC CCATCACCCTCACTACCCATCACCCGCACACTACCCACCCCATCACCCGC ACACTACCCAGGCCCATCACCCCGCTACCCACCCCCATCACCCCCACGCC ACCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCC AACCCATCACCCCCACGCCGCCCACCCCCATCACCCCCACGCCGCCCACC CCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	334	0.0030	2749	c.147 others(2766): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCACACT ACCCATCCCCATCACCCCCACACGACCCACCCCCATCACCCCCACACTAC CCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCAC CCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCC CATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCAT CACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCAC CCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCC ACACGACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCCACA CTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCCACACTA CCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCCACACTACCC ACCCCCATCACCCCACACTACCCACCCCCATCACCCCCACACTACCCACC CCCATCACCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCA TCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCA CCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCC CACACTACCCACCCCATCACCCGCACACTACCCACCCCCATCACCCCACA CTACCCATCCCCATCACCCCCACACGACCCACCCCATCACCCCACACGAC CCACCCCCATCACCCTCACTACCCACCCCCATCACCCCCACACTACCCAC CCCATCACCCCCACACTACCCACCCCCATCACCCCACACGACCCACCCCC ATCACCCCACACTACCCACCCCCATCACCCCACACTACCCATCCCCATCA CCCCCACACGACCCACCCCATCACCCCACACTACCCACCCCCATCACCCC ACACTACCCACCCCATCACCCTCACTACCCACCCCATCACCCCACACTAC CCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACCCACC CCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCA TCACCCCCACACTACCCACCCCATCACCCTCACTACCCACCCCATCACCC GCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCCA CACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCCACAC TACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTAC CCACCCCATCACCCCCACACTACCCACCCCATCACCCTCACTACCCACCC CATCACCCGCACACTACCCACCCCCATCACCCCCACACTACCCACCCCAT CACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCAC CCTCACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCCA CACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCTCACTAC CCACCCCATCACCCCACACTACCCACCCCATCACCCCCACACTACCCACC CCCATCACCCTCACTACCCACCCCCATCACCCCCACACTACCCACCCCCA TCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCAC CCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCC CCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCC ACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCCACA CTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCACACT ACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCACACTACCC ACCCCCATCACCCCACACTACCCACCCCATCACCCCCACACTACCCACCC CATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCAT CACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCAC CCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCC CACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCCAC ACTACCCACCCCCATCAGCCCCACTACCCACCCCCATCACCCTCACTACC CACCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACC CCCATCAGCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCC CATCACCCTCACTACCCATCACCCGCACACTACCCACCCCATCACCCGCA CACTACCCAGGCCCATCACCCCGCTACCCACCCCCATCACCCCCACGCCA CCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCA ACCCATCACCCCCACGCCGCCCACCCCCATCACCCCCACGCCGCCCACCC CCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCAT CACCCCCACACTACCCACCCC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL22_chr5_154936073_154974411	154958481	A A	ACATTCTT others(2742): Show ACATTCTTTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTATTTTTTTTATTTTTTATTTTTATTGATCATTCTTGGGTG TTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAA GGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAG GACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTAAGATTAGG GAGTGGTGATGACTCTCAACGAGCATGCTGCCCTCAAGCATCTGTTCAAC AAAGCACATCTTGCACCGCCCTTAATCCATCTAACCCTGAGTGGACACAG CACATGTCTCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATCAACAGG ATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTC CCATGTCTACTTCTATCCACACAGACCCAGCAACCATCCGATTTCTCAAT TTTTTCCCCACCCTTCCCGCCTTTCTATTCCACAAAACCGCCATTGTCAT CATGGCCCATCCCCAATGAGCCGCTGGGCACACCTCCCAGACGGGGTCGT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCCGGCAGAAG TGCCCCTCACCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCGCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGATAGGG CGGCTGGCCGGGCGGGGGCTGTTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCAGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGATC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCAGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCC CCCCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGG GCGGCTGGCCGACCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAG ACGCTCCTCACTTCCCAGACGGGGTGGTTGCCAGACGGAGGGGCTCCTCA CTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTTTCCTCACTTCTCAGAC GGAGCGGCCGGGCAGAGACACTCCTCACCTCCCAGACAGGGTTGCGGCCC AGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGTGGGGCAGAGGTGCTC CCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTA GATGGGATGGCGGCGGGGAAGAGGCGCTTCTCGCTTCCTAGACGGGATGG CGGCCGGGCAGAGACGCTCCTCACTTTCCACACTGGGCAGCCAGGCAGAG GGGCTCCTCATATCCCAGACGATGGGTGGCCAAGCAGAGACGCTCCTCAC TTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCTCTTTGG GAGGCCAAGGCAGGCGGCTGGGAGGTGGTTGTAGCGAGCCGAGATCACGC CACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACGAGACTCCA TCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGT TAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCATCTCCACCA AAAAAAAAACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTGCAATCGCA GGCACTCAGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAG CCGAGATGGCAGCAGTACCGTCCAGCTTTGGCTCGGCATGAGAGGGAGAG GGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGA GGGAGAGGGAGACGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAG AGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	358	0.0028	2749	c.339 others(2766): Show c.339+1284_339+1285insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTATTTTTTTTATTTTTTATTTTTATTGATCATTCT TGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGG AGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAG GCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTAAG ATTAGGGAGTGGTGATGACTCTCAACGAGCATGCTGCCCTCAAGCATCTG TTCAACAAAGCACATCTTGCACCGCCCTTAATCCATCTAACCCTGAGTGG ACACAGCACATGTCTCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATC AACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAA AGTCTCCCATGTCTACTTCTATCCACACAGACCCAGCAACCATCCGATTT CTCAATTTTTTCCCCACCCTTCCCGCCTTTCTATTCCACAAAACCGCCAT TGTCATCATGGCCCATCCCCAATGAGCCGCTGGGCACACCTCCCAGACGG GGTCGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCCGG CAGAAGTGCCCCTCACCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCGCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGG ATAGGGCGGCTGGCCGGGCGGGGGCTGTTCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCAGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCAGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGG ACGAGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGGC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGT TGACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCG GCCGGGGCGGCTGGCCGACCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGG GCGGAGACGCTCCTCACTTCCCAGACGGGGTGGTTGCCAGACGGAGGGGC TCCTCACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTTTCCTCACTTC TCAGACGGAGCGGCCGGGCAGAGACACTCCTCACCTCCCAGACAGGGTTG CGGCCCAGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGTGGGGCAGAG GTGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCAC TTCCTAGATGGGATGGCGGCGGGGAAGAGGCGCTTCTCGCTTCCTAGACG GGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCACACTGGGCAGCCAG GCAGAGGGGCTCCTCATATCCCAGACGATGGGTGGCCAAGCAGAGACGCT CCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCT CTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGTTGTAGCGAGCCGAGA TCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACGAG ACTCCATCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACT CGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCATCT CCACCAAAAAAAAAACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTGCA ATCGCAGGCACTCAGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGGTTGC AGTGAGCCGAGATGGCAGCAGTACCGTCCAGCTTTGGCTCGGCATGAGAG GGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAC GGGAGAGGGAGAGGGAGACGGGAGAGGGAGACGGGAGAGGGAGAGGGAGA CGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAG AGGGACCATTCTTTATCTTTT	MRPL22	ENSG00000082515.18	transcript	ENST00000523037.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(2742): Show AGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTG TGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGG TGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGA GTCTGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCG GGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGCGTGGGGATGCAC TGAGTCTGGGGGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGGAGG GCGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATG CACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGG GGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCAC TGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGG GGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGGT GCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGG AGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGG GTGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGG GGAGGGGGGGGTGTGGGGGTGCACTGAGTCTGGGGGAGGGGGGGGTGTGG GGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGGTGCACTGAGTCTG GGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGT GGGGGTGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTC TGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGT GTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAG TCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGG GTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTG AGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGC GGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCA CTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGG GGGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATG CACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGA GGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGA TGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGG GGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGG GGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTG GGGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGCG TGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGGGGGTGTGG GGATGCACTGAGTCTGGGGGAGGGGGGGGGTGTGGGGATGCACTGAGTCT GGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTG TGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGT CGGGGGGAGGGCGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGG GTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGCGTGGGGGTGCACTG AGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGC GGGGTGTGGGGATGCACTGAGTCTGGGGGGGGGGTGTGGGGATGCACTGA GTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGG GGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACT GAGTCTGGGGGAGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGG GGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCAC TGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGG GGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGCATGGGGATGC ACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAG GAGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGAT GCACTGAGTCTGGGGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGG GGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATG CACTGAGTCTGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0015 a0015	a0015c0067 a0015c0067	a0015c0067t0001 a0015c0067t0001	a0015c0067t0001g0107 a0015c0067t0001g0107	1	282	0.0036	2749	c.299 others(2764): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCG CCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTC AGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACC CCCCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCA GTGCATCCCCACACCCCCTCCTCCCCCAGACTCAGTGCATCCCCACACCC CCCCCTCCCCCAGACTCAGTGCATCCCCATGCCCCCCCTCCCCCCAGACT CAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACAC CCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGA CTCAGTGCATCCCCACACCCCCCCTCCCCCCAGACTCAGTGCATCCCCAC ACCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAG ACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCA CACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCCCAGAC TCAGTGCATCCCCACACCCCGCCCTCCCCCCAGACTCAGTGCATCCCCAC ACCCCGCCCTCCCCCAGACTCAGTGCACCCCCACGCCCCGCCCTCCCCCA GACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCC ACACCCCCGCCCTCCCCCCGACTCAGTGCATCCCCACACCCCCCCCTCCC CCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATC CCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCCT CCCCCAGACTCAGTGCATCCCCACACCCCCCCCCAGACTCAGTGCATCCC CACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCC CCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCAT CCCCACGCCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCT CCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGC ATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGC CCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAG TGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCC GCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTC AGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACC CCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGAC TCAGTGCATCCCCACACCCCGCCCTCCCCCCAGACTCAGTGCATCCCCAC ACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCA GACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCC ACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCC CAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCC CCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCC CCCAGACTCAGTGCACCCCCACACCCCCCCCTCCCCCAGACTCAGTGCAT CCCCACACCCCGCCCATCCCCAGACTCAGTGCACCCCCACACCCCCCCCT CCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGC ACCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCC CATCCCCAGACTCAGTGCACCCCCACACCCCCCCCTCCCCCAGACTCAGT GCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCCAGACTCAGTGCACCCCCACACCCCCCCCTCCCCCAGACTCA GTGCATCCCCACACCCCCCCCCCTCCCCCAGACTCAGTGCATCCCCACAC CCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGA CTCAGTGCATCCCCACACCCCCCCCCAGACTCAGTGCATCCCCACACCCC CCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTC AGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACGCC CCGCCCTCCCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCAGA CTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCAC ACCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCC AGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCC CACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCC CCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATC CCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCAT CCCCAGACTCAGTGCATCCCCATGCCCCGCCCTCTCCCCAGACTCAGTGC ATCCCCACACCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PRPF31_chr19_54110754_54136713	54133749	T T	TCTCTCCT others(2742): Show TCTCTCCTCTCTCTCTCCCTCCCTCTCTCCCCTCCTCTCCTCCCTCTCCA CCTCCCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCTCCTCCCTCT CTCACCTCCCCTCCTCTCTCCCTCCCTCCTCCACCTCCCCTCTCTCTCCC TCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCTCCCTCTCTCACCTCCCCTCTCTCTCTCCCTCCCTCTCC ACCTCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCTCTCTCTCCTCCCTC TCTCCTCCCCTCTCTCCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTC CCTCCTCTCTCCACCTCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCTCTCCCTCCCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCT CTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCC CTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCT CTCTCCACTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCTCTCTCTCT CCCTCCCTCTCCACCTCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCTCCTCCCTCTCCACCTCCCCTCTCTCTCT CCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCACACCTCCCCTCTCTCT CTCCTCCTCTCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCTCTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACC TCCCCTCTCTCCTCCCTCTCCACCTCCCTCTCTCTCCCTCCCCTCTCTCC TCCCCTCTCCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCT CCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACTCT CTCTCTTCCTCCCTCTCCACCTCCCTCTCTCTCTCCCTCCCTCTCCACCT CCCTCTCTCTCCTCCCTCTCCACCTCCCTCTCTCTCTCCCTCCCTCCCTC CCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCTCTCTCTCTC CCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTC TCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCCACCTTCCCTCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	227	0.0044	2749	c.23 others(2760): Show c.2317_*2318insCTCTCCTCTCTCTCTCCCTCCCTCTCTCCCCTCC TCTCCTCCCTCTCCACCTCCCTCTCTCTTCCTCCCTCTCCACCTCCCCTC TCTCCTCCTCCCTCTCTCACCTCCCCTCCTCTCTCCCTCCCTCCTCCACC TCCCCTCTCTCTCCCTCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCT TCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCTCTCACCTCCCCTCTCTC TCTCCCTCCCTCTCCACCTCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC TCTCTCTCCTCCCTCTCTCCTCCCCTCTCTCCTCTCCCTCCCTCTCCACC TCCCCTCTCTCTCTCCCTCCTCTCTCCACCTCCCTCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCTCCCTCCCTCCACCTCCCCTCTCTCTCTC CCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCT CCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTC CCCTCTCTCTCTCCTCTCTCCACTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCTCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCTCCCTCTCCAC CTCCCCTCTCTCTCTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCTCCCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCAC ACCTCCCCTCTCTCTCTCCTCCTCTCACCTCCCCTCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCTCCTCCCTCTCCACCTCCCCTCTCTCTCT CCCTCCCTCTCCACCTCCCCTCTCTCCTCCCTCTCCACCTCCCTCTCTCT CCCTCCCCTCTCTCCTCCCCTCTCCTCCCTCCCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CCTCCCTCTCTCCACCTCCCCTCTCTCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCCACTCTCTCTCTTCCTCCCTCTCCACCTCCCTCTCTCTCTC CCTCCCTCTCCACCTCCCTCTCTCTCCTCCCTCTCCACCTCCCTCTCTCT CTCCCTCCCTCCCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCCACCTCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTC CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCAC CTCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCC TCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTTCCC TCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTCCCTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2037		chr19	TogoVar
PRRC2B_chr9_131389086_131505193	131414409	G G	GTATCTTT others(2742): Show GTATCTTTTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAATTTAT TTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGG GTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAA GGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTG TGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCAT GCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAAT CCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTG GGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTA GTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGAC ACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCT ATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTG GGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGACGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGC GGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGTAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGA GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGG CCGACCCCCCCCCAACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCAACCTCCCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCCGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGC GGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCG GGGGGCTGACCCCCCTACCTCCCTACCGGACGGGGCGGCTGGCCGGGTGG GGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGATGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGATGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCCCCACCTCCCTCC CGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGATGGGGT GGCTGCCGGGCGGAGAGGCTCCTCACTTCTCAGACGGGGCAGCTGCCGGG CGGAGGGGCTCCTCACTTCTCAGACGGGGTGGTTGCCAGGCAGAGGGTCT CCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCAG ACGGGGTCTCGGCCGGGCAGAGGCGCTCCTCACATCCCAGATGGGGCGGC GGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGAC GCTCCTCACTTCCTAGATGTGATGGCGGCTGGGAAGAGGCGCTCCTCACT TCCTAGATGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTG GGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGC AGAGACACTCCTCACTTCCCAGACGGGGTGGCAGCCGGGCAGAGGCTGCA ATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGCTCCTTGCCCTCCGG CCCCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	216	0.0046	2749	c.-51 others(2768): Show c.-51-15670_-51-15669insTTTTTTTTTTTTTTTTTTTTTTTTTT AAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGAT TTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAG TGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGC AGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTA ACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCG CCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCA CAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAAT TTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCT ACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCC GCCTTTCTATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATG AGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCTGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGACGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGTAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGAGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CAGGGGGGCCGACCCCCCCCCAACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCA ACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCA CCTCCCTCCCCGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCTACCTCCCTACCGGACGGGGCGGCTGG CCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGG CCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGATGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCA GATGGGGTGGCTGCCGGGCGGAGAGGCTCCTCACTTCTCAGACGGGGCAG CTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGTGGTTGCCAGGCA GAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCA CCTCCCAGACGGGGTCTCGGCCGGGCAGAGGCGCTCCTCACATCCCAGAT GGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGG GCAGAGACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGGAAGAGGCGC TCCTCACTTCCTAGATGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTT CCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGC GGCCAGGCAGAGACACTCCTCACTTCCCAGACGGGGTGGCAGCCGGGCAG AGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGCTCCTTG CCCTCCGGCCCCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGG CGGCGCTCTATCTTTTGCTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
SEC23A_chr14_39026919_39108235	39064016	T T	TAAAAGTA others(2742): Show TAAAAGTATATGCTATTTAGAAAGAAGCTCCCTCTCCCGTCTCCCTCTCC CTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTC CCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTC CCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCT CCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCT CTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCGTCTCCCTCTCCCT CTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCC TCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCC GTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCC CTCTCCCGTCTCCCTCTCCCTCTCATGCCGAGCCAAAGCTGGACGGTACT GCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAG CCTGCCGAGTGCCTGCGATTGCAGGCGCGCGCCGCCACGCCTGACTGGTT TTCGTTTTTTTTTGGTGGAGATGGGGTTTCGCTGTGTTGGCCGGGCTGGT CTCCAGCTCCTAACCGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGC CGGGATTGCAGATGGAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGC TGGAGTGCAGTGGCGTGATCTCGGCTCGCTACAACCACCTCCCAGCCGCC TGCCTTGGCCTCCCAAAGAGCCGAGATTGCAGCCTCTGCCCGGCCGCCAC CCCCGTCTGGGAAGTGAGGAGCGTCTCTGCTTGGCCACCCATCGTCTGGG ATATGAGGAGCCCCTCTGCCTGGCTGCCCAGTGTGGAAAGTGAGGAGCGT CTCTGCCCGGCCGCCATCCCATCTAGGAAGCGAGAAGCGCCTCTTCCCCG CCGCCATCCCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCG TCTGAGATGTGGGGAGCACCTCTGCCCCACCGCCCTGTCTGGGATGTGAG GAGCGCCTCTGCTGGGCCGCAACCCTGTCTGGGAGGTGAGGAGTGTCTCT GCCCGGCCGCTCCGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGC CCCGTCTGAGAAGTGAGGAGCCCCTCCGTCTGGCAACCACCCCGTCTGGG AAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGC CAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGAG GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCTGCCTGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCTGGGAGGTGAGG GGCACTTCTGCCGGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCACGACCCCGTCTGGGAGGTGTGCCCAGCGGCTCATTGGGGATGGGC CATGATGACAATGGCGGTTTTGTGGAATAGAAAGGCGGGAAGGGTGGGGA AAAACTTGAGAAATCGGATGGTTGCCGGGTCTGTGTGGATAGAAGTAGAC ATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTG GGATCCTGTTGATCTGTGACCTTATCCCCAACCCTGTGCTCTCTGAAACA TGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTG CTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACC ACTCCCTAATCTTAAGTACCCAGGGACACAAACACTGCGGAAGGCCGCAG GGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCT GACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGA GAAACACCCAAGAATGATCAATAAAAATAAAAAATAAAAAAAAAATAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0093 a0001c0003t0001g0093	1	366	0.0027	2749	c.130 others(2766): Show c.1309-604_1309-603insTTTTATTTTTTTTTTATTTTTTATTTTT ATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATA GGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTC TGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCC TGGGTACTTAAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCC TTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTT AACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGATA AGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAG AACAAAATGAAAAGTCTCCCATGTCTACTTCTATCCACACAGACCCGGCA ACCATCCGATTTCTCAAGTTTTTCCCCACCCTTCCCGCCTTTCTATTCCA CAAAACCGCCATTGTCATCATGGCCCATCCCCAATGAGCCGCTGGGCACA CCTCCCAGACGGGGTCGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCCGGCAGAAGTGCCCCTCACCTCCCAGATGGGGCGGCTGGCC AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGATCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCAGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC AGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACC TCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCT CCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGC CGGGCGGAGACGCTCCTCACTTCCCAGACGGGGTGGTTGCCAGACGGAGG GGCTCCTCACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTTTCCTCAC TTCTCAGACGGAGCGGCCGGGCAGAGACACTCCTCACCTCCCAGACAGGG TTGCGGCCCAGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGTGGGGCA GAGGTGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCT CACTTCCTAGATGGGATGGCGGCGGGGAAGAGGCGCTTCTCGCTTCCTAG ATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCACACTGGGCAGC CAGGCAGAGGGGCTCCTCATATCCCAGACGATGGGTGGCCAAGCAGAGAC GCTCCTCACTTCCCAGACGGGGGTGGCGGCCGGGCAGAGGCTGCAATCTC GGCTCTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGTTGTAGCGAGCC GAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAA CGAGACTCCATCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGAT CACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCC ATCTCCACCAAAAAAAAACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCT GCAATCGCAGGCACTCGGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGGT TGCAGTGAGCCGAGATGGCAGCAGTACCGTCCAGCTTTGGCTCGGCATGA GAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGA GACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGG AGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGG GAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGAGACGGGAGAGG GAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGACGGGAGAG GGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAC GGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGA CGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAG AGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGA GAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGCTTCT TTCTAAATAGCATATACTTTT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	11/19			chr14	TogoVar
SH2D4B_chr10_80532902_80651560	80627643	T T	TACAAAAT others(2742): Show TACAAAATTCCCGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCACGGTCTCCCTCT GATGCCGAGCCAAGGCTGGACGGTACTGCTGCCATCTCGGCTCACTGCAA CCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCGATTGCA GGCGCGCACCGCCACGCCTGACTGGTTTTCGTTTTTTTTTTGGTGGAGAC GGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAGCCGCGAGTG ATCCGCCAGCCTCAGCCTCCCAAGGTGCCGGGATTGCAGATGGAGTCTCG TTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTC GGCTCGCTGCAACCACCTCCCAGCCGCCTGCCTTGGCCTCCCGGAGAGCC GAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGAGGAGCG TCTCTGCTTGGCCACCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGG CTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATC TGGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCATCTAGGAAGTGA GGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCACCTCT GCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCTGGGCCGCAGC CCTGTCTGGGAGGTGGGGAGCGTCTCTGCCCGGCCGCTCCGTCTGAGAAG TGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCC CTCCGTCCGGCAACCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCAG CAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCTTCTGCCTGGCCAGCCGCCCCATCCGGGAGGGA GGCGGGGGGGGGGGGGGGGTCGGCCAGCTGCCCCGTCCGGGAGGGAGGTG GGGGGGTAAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGACGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCAGTCCGGGAGGGAGGTGGGGGTTCAGCCCCCCGCCCGGCCA GCCGCCCCATCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAG CCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCGGGAGGGAGGT GGGGGGGTCATCCCCCCACCTGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGAGG GGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGCGGGGTGGGGGGGGGGGGGTCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTTCCGGCCGG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGACAGCCCCCCGCCCAGCCAGCCGCCCTATCCAGGAGGTGAGGGG CGCCTCTGCCCGGCCGTCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGG CCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCTGGGAGGTGT GCCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGCGGTTTTGTGG AATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGGTTGC CGGGTCTCTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTG TACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTAT CCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAA TGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGC AGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAAGTACCCAGGG ACACAAACACTGCGGAAGGCCAAGGCCGCAGGGTCCTCTGCCTAGGAAAA CCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTG TCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATC AATAAAAAAAAAATAAATAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0258 a0002c0002t0002g0258	1	322	0.0031	2749	c.989 others(2766): Show c.989-6631_989-6630insGCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCACG GTCTCCCTCTGATGCCGAGCCAAGGCTGGACGGTACTGCTGCCATCTCGG CTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCC TGCGATTGCAGGCGCGCACCGCCACGCCTGACTGGTTTTCGTTTTTTTTT TGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTA GCCGCGAGTGATCCGCCAGCCTCAGCCTCCCAAGGTGCCGGGATTGCAGA TGGAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTG GCGTGATCTCGGCTCGCTGCAACCACCTCCCAGCCGCCTGCCTTGGCCTC CCGGAGAGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAA GTGAGGAGCGTCTCTGCTTGGCCACCCATCGTCTGGGATGTGAGGAGCCC CTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCG CCATCCCATCTGGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCATC TAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGG GAGCACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCT GGGCCGCAGCCCTGTCTGGGAGGTGGGGAGCGTCTCTGCCCGGCCGCTCC GTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAG TGAGGAGCCCCTCCGTCCGGCAACCACCCCGTCTGGGAAGTGAGGAGCGT CTCCGCCCAGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCTTCTGCCTGGCCAGCCGCCCCAT CCGGGAGGGAGGCGGGGGGGGGGGGGGGGTCGGCCAGCTGCCCCGTCCGG GAGGGAGGTGGGGGGGTAAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGACGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGTTCAGCCCCC CGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGATCAGCCCCCC GCCTGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCG GGAGGGAGGTGGGGGGGTCATCCCCCCACCTGGCCAGCCGCCCCATCCGG GAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGTGGGGGGGGGGG GGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC TTCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGACAGCCCCCCGCCCAGCCAGCCGCCCTATCCAGG AGGTGAGGGGCGCCTCTGCCCGGCCGTCCCTACTGGGAAGTGAGGAGCCC CTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTC TGGGAGGTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGC GGTTTTGTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATC GGATGGTTGCCGGGTCTCTGTGGATAGAAGTAGACATGGGAGACTTTTCA TTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCT GTGACCTTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACT CAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGAT GCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAA GTACCCAGGGACACAAACACTGCGGAAGGCCAAGGCCGCAGGGTCCTCTG CCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCC TCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCC AAGAATGATCAATAAAAAAAAAATAAATAAATTAAAAAAAAAAAAAAAAA AAAAAAAAAAACAAAATTCCC	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80627643	T T	TACAAAAT others(2742): Show TACAAAATTCCCGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCACGGTCTCCCTCT GATGCCGAGCCAAGGCTGGACGGTACTGCTGCCATCTCGGCTCACTGCAA CCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCGATTGCA GGCGCGCACCGCCACGCCTGACTGGTTTTCGTTTTTTTTTTGGTGGAGAC GGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAGCCGCGAGTG ATCCGCCAGCCTCAGCCTCCCAAGGTGCCGGGATTGCAGATGGAGTCTCG TTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTC GGCTCGCTGCAACCACCTCCCAGCCGCCTGCCTTGGCCTCCCGGAGAGCC GAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGAGGAGCG TCTCTGCTTGGCCACCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGG CTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATC TGGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCATCTAGGAAGTGA GGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCACCTCT GCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCTGGGCCGCAGC CCTGTCTGGGAGGTGGGGAGCGTCTCTGCCCGGCCGCTCCGTCTGAGAAG TGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCC CTCCGTCCGGCAACCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCAG CAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCTTCTGCCTGGCCAGCCGCCCCATCCGGGAGGGA GGCGGGGGGGGGGGGGGGTCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGG GGGGGTAAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC TCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGACGCCCCATCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCAGTCCGGGAGGGAGGTGGGGGTTCAGCCCCCCGCCCGGCCA GCCGCCCCATCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAG CCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCGGGAGGGAGGT GGGGGGGTCATCCCCCCACCTGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGAGG GGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGCGGGGTGGGGGGGGGGGGGTCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTTCCGGCCGG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGACAGCCCCCCGCCCAGCCAGCCGCCCTATCCAGGAGGTGAGGGG CGCCTCTGCCCGGCCGTCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGG CCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCTGGGAGGTGT GCCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGCGGTTTTGTGG AATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGGTTGC CGGGTCTCTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTG TACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTAT CCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAA TGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGC AGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAAGTACCCAGGG ACACAAACACTGCGGAAGGCCAAGGCCGCAGGGTCCTCTGCCTAGGAAAA CCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTG TCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATC AATAAAAAAAAAATAAATAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0260 a0002c0002t0002g0260	1	322	0.0031	2749	c.989 others(2766): Show c.989-6631_989-6630insGCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCACG GTCTCCCTCTGATGCCGAGCCAAGGCTGGACGGTACTGCTGCCATCTCGG CTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCC TGCGATTGCAGGCGCGCACCGCCACGCCTGACTGGTTTTCGTTTTTTTTT TGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTA GCCGCGAGTGATCCGCCAGCCTCAGCCTCCCAAGGTGCCGGGATTGCAGA TGGAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTG GCGTGATCTCGGCTCGCTGCAACCACCTCCCAGCCGCCTGCCTTGGCCTC CCGGAGAGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAA GTGAGGAGCGTCTCTGCTTGGCCACCCATCGTCTGGGATGTGAGGAGCCC CTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCG CCATCCCATCTGGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCATC TAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGG GAGCACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCT GGGCCGCAGCCCTGTCTGGGAGGTGGGGAGCGTCTCTGCCCGGCCGCTCC GTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAG TGAGGAGCCCCTCCGTCCGGCAACCACCCCGTCTGGGAAGTGAGGAGCGT CTCCGCCCAGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCTTCTGCCTGGCCAGCCGCCCCAT CCGGGAGGGAGGCGGGGGGGGGGGGGGGTCGGCCAGCTGCCCCGTCCGGG AGGGAGGTGGGGGGGTAAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGACGCCCCATCCAGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGTTCAGCCCCC CGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGATCAGCCCCCC GCCTGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCG GGAGGGAGGTGGGGGGGTCATCCCCCCACCTGGCCAGCCGCCCCATCCGG GAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGTGGGGGGGGGGG GGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC TTCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGACAGCCCCCCGCCCAGCCAGCCGCCCTATCCAGG AGGTGAGGGGCGCCTCTGCCCGGCCGTCCCTACTGGGAAGTGAGGAGCCC CTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTC TGGGAGGTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGC GGTTTTGTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATC GGATGGTTGCCGGGTCTCTGTGGATAGAAGTAGACATGGGAGACTTTTCA TTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCT GTGACCTTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACT CAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGAT GCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAA GTACCCAGGGACACAAACACTGCGGAAGGCCAAGGCCGCAGGGTCCTCTG CCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCC TCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCC AAGAATGATCAATAAAAAAAAAATAAATAAATTAAAAAAAAAAAAAAAAA AAAAAAAAAAACAAAATTCCC	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80627643	T T	TACAAAAT others(2742): Show TACAAAATTCCCGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCACGGTCTCCCTCT GATGCCGAGCCAAGGCTGGACGGTACTGCTGCCATCTCGGCTCACTGCAA CCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCGATTGCA GGCGCGCACCGCCACGCCTGACTGGTTTTCGTTTTTTTTTTGGTGGAGAC GGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAGCCGCGAGTG ATCCGCCAGCCTCAGCCTCCCAAGGTGCCGGGATTGCAGATGGAGTCTCG TTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTC GGCTCGCTGCAACCACCTCCCAGCCGCCTGCCTTGGCCTCCCGGAGAGCC GAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGAGGAGCG TCTCTGCTTGGCCACCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGG CTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATC TGGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCATCTAGGAAGTGA GGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCACCTCT GCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCTGGGCCGCAGC CCTGTCTGGGAGGTGGGGAGCGTCTCTGCCCGGCCGCTCCGTCTGAGAAG TGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCC CTCCGTCCGGCAACCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCAG CAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCTTCTGCCTGGCCAGCCGCCCCATCCGGGAGGGA GGCGGGGGGGGGGGGGGGTCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGG GGGGGTAAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC TCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGACGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCAGTCCGGGAGGGAGGTGGGGGTTCAGCCCCCCGCCCGGCCAG CCGCCCCATCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGC CGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCGGGAGGGAGGTG GGGGGGTCATCCCCCCACCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGG GGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGAGGG GGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGCGGGGTGGGGGGGGGGGGGTCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTTCCGGCCGGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGACAGCCCCCCCGCCCAGCCAGCCGCCCTATCCAGGAGGTGAGGGG CGCCTCTGCCCGGCCGTCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGG CCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCTGGGAGGTGT GCCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGCGGTTTTGTGG AATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGGTTGC CGGGTCTCTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTG TACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTAT CCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAA TGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGC AGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAAGTACCCAGGG ACACAAACACTGCGGAAGGCCAAGGCCGCAGGGTCCTCTGCCTAGGAAAA CCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTG TCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATC AATAAAAAAAAAATAAATAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0261 a0002c0002t0002g0261	1	322	0.0031	2749	c.989 others(2766): Show c.989-6631_989-6630insGCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCACG GTCTCCCTCTGATGCCGAGCCAAGGCTGGACGGTACTGCTGCCATCTCGG CTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCC TGCGATTGCAGGCGCGCACCGCCACGCCTGACTGGTTTTCGTTTTTTTTT TGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTA GCCGCGAGTGATCCGCCAGCCTCAGCCTCCCAAGGTGCCGGGATTGCAGA TGGAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTG GCGTGATCTCGGCTCGCTGCAACCACCTCCCAGCCGCCTGCCTTGGCCTC CCGGAGAGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAA GTGAGGAGCGTCTCTGCTTGGCCACCCATCGTCTGGGATGTGAGGAGCCC CTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCG CCATCCCATCTGGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCATC TAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGG GAGCACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCT GGGCCGCAGCCCTGTCTGGGAGGTGGGGAGCGTCTCTGCCCGGCCGCTCC GTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAG TGAGGAGCCCCTCCGTCCGGCAACCACCCCGTCTGGGAAGTGAGGAGCGT CTCCGCCCAGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCTTCTGCCTGGCCAGCCGCCCCAT CCGGGAGGGAGGCGGGGGGGGGGGGGGGTCGGCCAGCTGCCCCGTCCGGG AGGGAGGTGGGGGGGTAAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGACGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGTTCAGCCCCCC GCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCGG GAGGGAGGTGGGGGGGTCATCCCCCCACCTGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGTGGGGGGGGGGGG GTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCT TCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGACAGCCCCCCCGCCCAGCCAGCCGCCCTATCCAGG AGGTGAGGGGCGCCTCTGCCCGGCCGTCCCTACTGGGAAGTGAGGAGCCC CTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTC TGGGAGGTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGC GGTTTTGTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATC GGATGGTTGCCGGGTCTCTGTGGATAGAAGTAGACATGGGAGACTTTTCA TTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCT GTGACCTTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACT CAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGAT GCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAA GTACCCAGGGACACAAACACTGCGGAAGGCCAAGGCCGCAGGGTCCTCTG CCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCC TCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCC AAGAATGATCAATAAAAAAAAAATAAATAAATTAAAAAAAAAAAAAAAAA AAAAAAAAAAACAAAATTCCC	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80627643	T T	TACAAAAT others(2742): Show TACAAAATTCCCGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCACGGTCTCCCTCT GATGCCGAGCCAAGGCTGGACGGTACTGCTGCCATCTCGGCTCACTGCAA CCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCGATTGCA GGCGCGCACCGCCACGCCTGACTGGTTTTCGTTTTTTTTTTGGTGGAGAC GGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAGCCGCGAGTG ATCCGCCAGCCTCAGCCTCCCAAGGTGCCGGGATTGCAGATGGAGTCTCG TTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTC GGCTCGCTGCAACCACCTCCCAGCCGCCTGCCTTGGCCTCCCGGAGAGCC GAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGAGGAGCG TCTCTGCTTGGCCACCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGG CTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATC TGGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCATCTAGGAAGTGA GGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCACCTCT GCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCTGGGCCGCAGC CCTGTCTGGGAGGTGGGGAGCGTCTCTGCCCGGCCGCTCCGTCTGAGAAG TGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCC CTCCGTCCGGCAACCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCAG CAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCTTCTGCCTGGCCAGCCGCCCCATCCGGGAGGGA GGCGGGGGGGGGGGGGGGTCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGG GGGGGTAAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC TCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGACGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCAGTCCGGGAGGGAGGTGGGGGTTCAGCCCCCCGCCCGGCCAG CCGCCCCATCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGC CGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCGGGAGGGAGGTG GGGGGGTCATCCCCCCACCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGG GGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGAGGG GGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGCGGGGTGGGGGGGGGGGGGTCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTTCCGGCCGGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGACAGCCCCCCGCCCAGCCAGCCGCCCTATCCAGGAGGTGAGGGGC GCCTCTGCCCGGCCGTCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGC CAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCTGGGAGGTGTG CCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGCGGTTTTGTGGA ATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGGTTGCC GGGTCTCTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGT ACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATC CCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAAT GGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCA GCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAAGTACCCAGGGA CACAAACACTGCGGAAGGCCAAGGCCGCAGGGTCCTCTGCCTAGGAAAAC CAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGT CCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCA ATAAAAAAAAAATAAATAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0262 a0002c0002t0002g0262	1	322	0.0031	2749	c.989 others(2766): Show c.989-6631_989-6630insGCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCACG GTCTCCCTCTGATGCCGAGCCAAGGCTGGACGGTACTGCTGCCATCTCGG CTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCC TGCGATTGCAGGCGCGCACCGCCACGCCTGACTGGTTTTCGTTTTTTTTT TGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTA GCCGCGAGTGATCCGCCAGCCTCAGCCTCCCAAGGTGCCGGGATTGCAGA TGGAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTG GCGTGATCTCGGCTCGCTGCAACCACCTCCCAGCCGCCTGCCTTGGCCTC CCGGAGAGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAA GTGAGGAGCGTCTCTGCTTGGCCACCCATCGTCTGGGATGTGAGGAGCCC CTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCG CCATCCCATCTGGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCATC TAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGG GAGCACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCT GGGCCGCAGCCCTGTCTGGGAGGTGGGGAGCGTCTCTGCCCGGCCGCTCC GTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAG TGAGGAGCCCCTCCGTCCGGCAACCACCCCGTCTGGGAAGTGAGGAGCGT CTCCGCCCAGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCTTCTGCCTGGCCAGCCGCCCCAT CCGGGAGGGAGGCGGGGGGGGGGGGGGGTCGGCCAGCTGCCCCGTCCGGG AGGGAGGTGGGGGGGTAAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGACGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGTTCAGCCCCCC GCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCGG GAGGGAGGTGGGGGGGTCATCCCCCCACCTGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGTGGGGGGGGGGGG GTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCT TCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGACAGCCCCCCGCCCAGCCAGCCGCCCTATCCAGGA GGTGAGGGGCGCCTCTGCCCGGCCGTCCCTACTGGGAAGTGAGGAGCCCC TCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCT GGGAGGTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGCG GTTTTGTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCG GATGGTTGCCGGGTCTCTGTGGATAGAAGTAGACATGGGAGACTTTTCAT TTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTG TGACCTTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTC AGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATG CTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAAG TACCCAGGGACACAAACACTGCGGAAGGCCAAGGCCGCAGGGTCCTCTGC CTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCT CCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCA AGAATGATCAATAAAAAAAAAATAAATAAATTAAAAAAAAAAAAAAAAAA AAAAAAAAAAACAAAATTCCC	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
STON2_chr14_81255652_81405324	81320429	G G	GACCATTT others(2742): Show GACCATTTTTTTTTTTAATTTATTTATTTATTTTTTTTATTGATCATTCT TGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGG AGGGAAGGTCAGTAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAG GCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTAAG ATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTG TTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGG ACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATC AACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAA AGTCTCCCAGGTCTACTTCTATCCACACAGACCCGGCAACCATCCGATTT CTCAATTTTTTCCCCACTCTTCCCGCCTTTCTATTCCACAAAACCGCCAT TGTCATCATGGCCCATCCCCAATGAGCCGCTGGGCACACCTCCCAGACGG GGTCGTGGCCGGGCAGAGGGGCTCCTCATTTCCCAGTAGGGGTGGCCGGG CAGAAGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGTCCCTCACCTCCCGG ACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CAGGGCGGCTGGCCGACCCCCCCCCCCGCCCCGCCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCTCACCTCCCTCCCGGG CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCACCACCTCCCTCCCGGACTGGGCGGCTGACCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGT CGGGGTGACTGCCGGGCGGAGACGCTCCTCACTTCCCAGACGGGGTGGCT GCCGGACGGAGGGGCTCCTCACTTCTCAGACGGGGCGGTTGCCAGGCAGA GGGTTTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACC TCCCAGACAGGGTTGCGGCCCAGCAGAGGCGCTCCTCACATCCCAGACAG GGCGGCGGGGCAGAGGTGCTCCCCACATCTCAGACGATGGGCAGCCGGGC AGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCGGGGAAGAGGCGCTC CTCGCTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCC AGACTGGGCAGCCAGGCAGAGAGGCTCCTCATATCCCAGACGATGGGGGG CCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCTGGGCAGAG GCTGCAATCTCGGCACTTTGGGGGGCCAAGGCAGGCGGCTGGGAGGTGGA GGTTGTAGCGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCACCATT GAGCACTGAGTGAACAAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGC CGAGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAA CACAGCAAAACCCCGTCTCCACCAAAAAAAAAAAAACGAAAACCAGTCAG GCGTGGCGGCGCGCGCCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAGG AGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACCGTCC AGCTTTGGCTCGGCATCAGAGGGAGACCGTGGAAGGAGACCGTGGGAAGG GGGAGAGGGGAGAGGGGAGAGGGGAGATACCATAAAGTCTTTTATCCCTA ACAAATGTTTTTTGAATACCTTCCACATGCATGTTCCCAGGAAAGACTTA TACAGGCCAGGTGTGGTGGCTCACGCCCTTGTAATCCCAGCACTGTAGGA GGCCAAGGTGGGGACATTGTTTGAGCCTGGGAGTTCAAGACCAGCCTGGC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0262 a0002c0002t0032g0262	1	264	0.0038	2749	c.742 others(2766): Show c.742+3587_742+3588insGCCAGGCTGGTCTTGAACTCCCAGGCTC AAACAATGTCCCCACCTTGGCCTCCTACAGTGCTGGGATTACAAGGGCGT GAGCCACCACACCTGGCCTGTATAAGTCTTTCCTGGGAACATGCATGTGG AAGGTATTCAAAAAACATTTGTTAGGGATAAAAGACTTTATGGTATCTCC CCTCTCCCCTCTCCCCTCTCCCCCTTCCCACGGTCTCCTTCCACGGTCTC CCTCTGATGCCGAGCCAAAGCTGGACGGTACTGCTGCCATCTCGGCTCAC TGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCGA TTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGTTTTTTTTTTTTTG GTGGAGACGGGGTTTTGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAAC CGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGACG GAGTCTTGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGC GTGATCTTGGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCC CCCAAAGTGCCGAGATTGCAGCCTCTGCCCAGCCGCCACCCCGTCTGGGA AGTGAGGAGCGTCTCTGCCTGGCCCCCCATCGTCTGGGATATGAGGAGCC TCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCC GCCATCCCATCTAGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCAT CTAGGAAGTGAGGAGCGTCTCTGCCCGGCTGCCCATCGTCTGAGATGTGG GGAGCACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGC TGGGCCGCAACCCTGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCC CGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAA GTGAGGAGCCCCTCCGTCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCG TCTCCGCCCGGCAGTCACCCCGACCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG TCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGTCAGCCGCCCAG TCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGATCA GCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGCCCGGGAGGGAGGTGAGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCC CCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGCGGGGG GGGGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGACGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCTTCTGCCCGGCCACCCCTACTGGGAAATGAGGA GCCCCTCTGCCCGGCCACGACCCCGTCTGGGAGGTGTGCCCAGCGGCTCA TTGGGGATGGGCCATGATGACAATGGCGGTTTTGTGGAATAGAAAGGCGG GAAGAGTGGGGAAAAAATTGAGAAATCGGATGGTTGCCGGGTCTGTGTGG ATAGAAGTAGACCTGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAAT TCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATCCCCAACCCTGTG CTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCG GTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTA AGAGTCATCACCACTCCCTAATCTTAAGTACCCAGGGACACAAACACTGC GGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACT TGTTTATCTACTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAAT CCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAATAAATAAA TAAATTAAAAAAAAAAATGGT	STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7			chr14	TogoVar
STON2_chr14_81255652_81405324	81320429	G G	GACCATTT others(2742): Show GACCATTTTTTTTTTTAATTTATTTATTTATTTTTTTTATTGATCATTCT TGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGG AGGGAAGGTCAGTAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAG GCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTAAG ATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTG TTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGG ACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATC AACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAA AGTCTCCCAGGTCTACTTCTATCCACACAGACCCGGCAACCATCCGATTT CTCAATTTTTTCCCCACTCTTCCCGCCTTTCTATTCCACAAAACCGCCAT TGTCATCATGGCCCATCCCCAATGAGCCGCTGGGCACACCTCCCAGACGG GGTCGTGGCCGGGCAGAGGGGCTCCTCATTTCCCAGTAGGGGTGGCCGGG CAGAAGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGTCCCTCACCTCCCGG ACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CAGGGCGGCTGGCCGACCCCCCCCCCCGCCCCGCCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCTCACCTCCCTCCCGGG CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCACCACCTCCCTCCCGGACTGGGCGGCTGACCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGT CGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGACGGGGTGGCT GCCGGACGGAGGGGCTCCTCACTTCTCAGACGGGGCGGTTGCCAGGCAGA GGGTTTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACC TCCCAGACAGGGTTGCGGCCCAGCAGAGGCGCTCCTCACATCCCAGACAG GGCGGCGGGGCAGAGGTGCTCCCCACATCTCAGACGATGGGCAGCCGGGC AGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCGGGGAAGAGGCGCTC CTCGCTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCC AGACTGGGCAGCCAGGCAGAGAGGCTCCTCATATCCCAGACGATGGGGGG CCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCTGGGCAGAG GCTGCAATCTCGGCACTTTGGGGGGCCAAGGCAGGCGGCTGGGAGGTGGA GGTTGTAGCGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCACCATT GAGCACTGAGTGAACAAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGC CGAGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAA CACAGCAAAACCCCGTCTCCACCAAAAAAAAAAAAACGAAAACCAGTCAG GCGTGGCGGCGCGCGCCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAGG AGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACCGTCC AGCTTTGGCTCGGCATCAGAGGGAGACCGTGGAAGGAGACCGTGGGAAGG GGGAGAGGGGAGAGGGGAGAGGGGAGATACCATAAAGTCTTTTATCCCTA ACAAATGTTTTTTGAATACCTTCCACATGCATGTTCCCAGGAAAGACTTA TACAGGCCAGGTGTGGTGGCTCACGCCCTTGTAATCCCAGCACTGTAGGA GGCCAAGGTGGGGACATTGTTTGAGCCTGGGAGTTCAAGACCAGCCTGGC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02004.hp1 HG02293.hp2 others(1): Show HG01257.hp2 HG02004.hp1 HG02293.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0032 a0002c0002t0034 a0002c0002t0012 a0002c0002t0032 a0002c0002t0034	a0002c0002t0012g0030 a0002c0002t0032g0155 a0002c0002t0034g0092 others(1): Show a0002c0002t0012g0030 a0002c0002t0032g0155 a0002c0002t0034g0092 a0002c0002t0034g0141	4	264	0.0152	2749	c.742 others(2766): Show c.742+3587_742+3588insGCCAGGCTGGTCTTGAACTCCCAGGCTC AAACAATGTCCCCACCTTGGCCTCCTACAGTGCTGGGATTACAAGGGCGT GAGCCACCACACCTGGCCTGTATAAGTCTTTCCTGGGAACATGCATGTGG AAGGTATTCAAAAAACATTTGTTAGGGATAAAAGACTTTATGGTATCTCC CCTCTCCCCTCTCCCCTCTCCCCCTTCCCACGGTCTCCTTCCACGGTCTC CCTCTGATGCCGAGCCAAAGCTGGACGGTACTGCTGCCATCTCGGCTCAC TGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCGA TTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGTTTTTTTTTTTTTG GTGGAGACGGGGTTTTGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAAC CGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGACG GAGTCTTGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGC GTGATCTTGGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCC CCCAAAGTGCCGAGATTGCAGCCTCTGCCCAGCCGCCACCCCGTCTGGGA AGTGAGGAGCGTCTCTGCCTGGCCCCCCATCGTCTGGGATATGAGGAGCC TCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCC GCCATCCCATCTAGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCAT CTAGGAAGTGAGGAGCGTCTCTGCCCGGCTGCCCATCGTCTGAGATGTGG GGAGCACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGC TGGGCCGCAACCCTGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCC CGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAA GTGAGGAGCCCCTCCGTCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCG TCTCCGCCCGGCAGCCACCCCGACCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG TCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGTCAGCCGCCCAG TCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGATCA GCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGCCCGGGAGGGAGGTGAGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCC CCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGCGGGGG GGGGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGACGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCTTCTGCCCGGCCACCCCTACTGGGAAATGAGGA GCCCCTCTGCCCGGCCACGACCCCGTCTGGGAGGTGTGCCCAGCGGCTCA TTGGGGATGGGCCATGATGACAATGGCGGTTTTGTGGAATAGAAAGGCGG GAAGAGTGGGGAAAAAATTGAGAAATCGGATGGTTGCCGGGTCTGTGTGG ATAGAAGTAGACCTGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAAT TCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATCCCCAACCCTGTG CTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCG GTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTA AGAGTCATCACCACTCCCTAATCTTAAGTACCCAGGGACACAAACACTGC GGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACT TGTTTATCTACTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAAT CCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAATAAATAAA TAAATTAAAAAAAAAAATGGT	STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7			chr14	TogoVar
AKAP3_chr12_4610518_4654051	4633739	T T	TCAGTAGT others(2743): Show TCAGTAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTGATCATTCT TGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGG AGGGAAGGTCAGCACATAAGCAAGTGAACAAAGGTCTCTGGTTTTCCTAG GCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAG ATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTG TTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGG ACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATC AACAGGATCCCAAGGCAGAAGAAGTTTTCTTAGTACAGAACCAAATGAAA AGTCTCCCATGTCTACTTCTATCCACACAGACCCGGCAACCATCCGATTT CTCAATTTTTTCCCCACCCTTCCCGCCTTTCTATTCCACAAAACTGCCAT TGTCATCATGGCCCATCCCCAATGAGCCGCTAGGCACACCTCCCAGACGG GGTCGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAAGCGCCCCCCACCTCCCGGATGGGGCGGCTGGCTGGGCAGAGGGGT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACAGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CAGGGCGGCTGGCCGACCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCCAGGCGGGGGGCTGA TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAT CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCCACCTCCCTCCCGGCCGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCAC TTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACTGGG CGGCTGGCCGGGCGGGGGGCTGACCTCCCACCTCCCTCCTGGACGGGGCG ACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCTCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCT CACTTTCCAGACGGGGTGGCTGCCAGGCGGAGGGGCTCCTCACTTCCCAG ACGGGGTGGCTGCCGGACGGAGGGGCTCCTCACTTCTCAGACGGGGCGGT TGCTAGGCAGAGGGTTTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGA CGCTCCTCACCTCCCAGACAGGGTTGCGGCCCATCAGAGGCGCTCCTCAC ATCCCAGACAGGGCGGCGGGGCAGAGGTGCTCCCCACATCTCAGACGATG GGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCGGGG AAGAGGCGCTCCTCGCTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCT CCTCACTTTCCAGACTGGGCAGCCAGGCAGAGAGGCTCCTCATATCCCAG ACGATGGGGGGGCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCG GCTGGGCAGAGGCTGCAATCTCGGCACTTTGGGGGGCCAAGGCAGGCGGC TGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCATTGCACTCCAGCC TGGGCACCATTGAGCACTGAGTGAACGAGACTCCGTCTGCAATCCCGGCA CCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAGACC AGCCCGGCCAACACAGCAAAACCCCGTCTCCACCAAAAAAAAAACGAAAA CCAGTCAGGCCTGGCGGCGCGCGCCTGCAATCGCAGGCACTCGGCAGGCT GAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAG TACCGTCCAGCTTTGGCTCGGCATCAGAGGGAGACCGCGGAGAGGGGAGA GGGGAGAGGGGAGAGGGGAGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGG GGAGGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGAGAGGGGAGAGGGGAG AGGGGAGAGGGGAGAGGGGAGAGGGGAGAGCCTTCAGTAGTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCAGGC C	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0214 a0002c0003t0001g0214	1	418	0.0024	2750	c.96+ others(2765): Show c.96+4361_96+4362insGGCCTGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAACTACTGAAGGCTCTCCCCT CTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCCTCC CCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCC CCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCC TCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCGCGGTCTCCCTCTGATG CCGAGCCAAAGCTGGACGGTACTGCTGCCATCTCGGCTCACTGCAACCTC CCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCGATTGCAGGCG CGCGCCGCCAGGCCTGACTGGTTTTCGTTTTTTTTTTGGTGGAGACGGGG TTTTGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCC GCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCTCGTTCA CTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCT CGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCCCCCAAAGTGCCG AGATTGCAGCCTCTGCCCAGCCGCCACCCCGTCTGGGAAGTGAGGAGCGT CTCTGCCTGCCCCCCCATCGTCTGGGATATGAGGAGCCTCTCTGCCTGGC TGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCT AGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCATCTAGGAAGTGAG GAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCACCTCTG CCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGATGGGCCGCAACC CTGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGT GAGGAAACCCTCTGCCTAGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCC TCCGTCCGGCAGCCACCCCGTCTGGGAAGTGAGGAGCCCCTCCGCCTGGC AGCCACCCCGTCTGGAAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCG TCCGAGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGAGGTC AGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTG CCCAGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GGCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCTGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGG GGGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCTGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCATCC GGGAGGTGGGGGGCGCTTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCACGACCCCGTCTGGGAGGTGTGCCTAGCGGCTCAT TGGGGATGGGCCATGATGACAATGGCAGTTTTGTGGAATAGAAAGGCGGG AAGGGTGGGGAAAAAATTGAGAAATCGGATGGTTGCCGGGTCTGTGTGGA TAGAAGTAGACATGGGAGACTTTTCATTTGGTTCTGTACTAAGAAAACTT CTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATCCCCAACCCTGTGC TCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGG TGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAA GAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCG GAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTT GCTTATGTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATC CCCCTCTGCGAGAAACACCCAAGAATGATCAATTAAAAAAAAAAAAAAAA AAAAAAAAAAAAAACTACTG	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	4/5			chr12	TogoVar
CNTN5_chr11_99015949_100363885	99819303	C C	CCCTCCCC others(2743): Show CCCTCCCCTCTTCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCTCCTC CCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTC CCCTCTCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTC CCCTGTTCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCCCCTGTTCTC CCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCTCTCCCCTCCCCTGTTCTC CCCTCCTCTCCCCTCTCCTCCCCTCCCCTCCTCTCCCCTCCTCTCCCCTC TCCTCCCCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCCTCTCCCCTC CTCTCCCCTCTCCTCCCCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTC CTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCCTCTCCCCTCTCCTC CCCTCCCCTCTCCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTG TTCTCCCCTCCCCTCCCCTCTTGTCCCCTCCCCTCTTCTCCCCTCCCCTC CCCTCCCCTCTTGTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTC TTCTCCCCTCCCCTCCCGTCCCCTCCTCTCTTCTCCCCTCCCATCCCCTC CCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTC CCCTCCCCTCTCCTCTCCACTCCTCCCCTCTCCTCTCCTCCCCTCCCCTC TTCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCGTCCCCTCCCCTC TTCTCCCCTCCCCTCCCGTCCCCTCCTCTCTTCTCCCCTCCCCTCCCGTC CCCTCCTCTCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC TCCTCCCCTCTCCTCCCCTCTCCTCTCCACTCCTCCCCTCTCCTCTCCAC TCCTCCCCTCTCCTCTCCTCCCCTCTCCTCTCCTCCCCTCTCCTCCCCTC CCCTCCCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCCTC CCCTCTCCTCCCCTCCCCTCTCCTCCCCTCTCCTCCCCTCTCCTCCCCTC CCCTCTCTTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTCTCCTCCCCTC CCCTCCCCTCCTTTCCTCAATATTATAGCTAGTAGAATTTTCAGAAAATA TTAAAAAATATAAAAGTAACATTTTTTCACACTCTCACTGTAATCTGAAT TTGCTTGCAGCTCCAAAGAAGGTTTTTAGTAATGTCTTCAAAGAAACAAT CTTTATAAGAAAAAAATAAACTAGTTTCCTCAAAATTCAGATTTTATTAT ATTTTTTCTCTTACAGAGTATTCAAAAGCTCTTCCTGGTCTCTCCACTTC ATATGCTGCTTTGTTAAGAATTAAGAAGAGTTCATCTTCATCTCTCTTTG GTTCCAAAACCAGACCATGATACAGCAGCCCTTCATTAGGAACACTGAGT GCTTCTTCACCCAGCTGGCGAGGGGCAGCTCAGAATTATTATTCCCCCAT CAATCTTTATCATTCCTCAGATGCCAACTGAGGAACCAGGCATTATTTTG TCGATAGATCCAAAATTGACAAAGGTAGACAACATCTAGAAAATATTATT CAAACTATAAAGCCAATAGCTGTAGAGCAGTCTTTAATTTAACTGATATC TTAGTGTTGGATATATAGATTTTTTCTTATTTTCCATTCATAAGTAATGC TAAGTATATACTTATCTTTGCGTGCTCTCTTTATTATTTTCTTACACAGA ATACACTTCCAGAAATAAAACCACTGGATTGAAGGATAGGTCTGTTTTAT GTTTCCGATATTCACTGTCAAATTGGCCTTCCAAAAATGTCTATTTTTAC TTTCATTCTACGAGAGTATTTAGTCTTAATCCTAAATTATAATTGGTATA GAGTGCAATTCGAATAGAGTGCTCTCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCTCCCCTGTTCTCCCCTCCTCTCCCCTCTCCTCCCCTCC CCTCTCCTCTCCTCCCCTGTTCTCCCCTCCCCTCCCCTCTTGTCCCCTCC CCTCCCCTCTTGTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCTTGTCC CCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCC CCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCC CCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCC CCTCCCCTCTCCTCCCCTGTTCTCCCCCTCCCCTCTCCTCCCCTGTTCTC CCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTC TCCTCCCCTCTCCTCCCCTGTTCTCTCCTCCCCTCCCCTCTCCTCCCCTC CCCTCCCCTCTCCTCTCTACTCCTCCCCTCTCCTCTCCTCCCCTCCCCTC CCCTCTCCTCTCCTCCCCTGTTCTCCCCTCTCCTCCCCTGTTCTCCCCTC CCCTCTCCTCCCCTGTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC TCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTC TCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTC CCCTCCCCTCTCCTCCCCTCCCCTCTCTTCCCCTGTTCTCCCCTCCCCTC T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0045 a0005c0005t0003g0045	1	66	0.0152	2750	c.56- others(2763): Show c.56-231_56-230insTCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCC TCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCC TCCCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCTCC TCTCCTCCCCTGTTCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCCCC TGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCTCTCCCCTCCCC TGTTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCCTCTCCCCTCCTC TCCCCTCTCCTCCCCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCCTC TCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCCTCTCCCCTCTCCTCCCC TCCCCTCCTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCCTCTCCCC TCTCCTCCCCTCCCCTCTCCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCC TCCCCTGTTCTCCCCTCCCCTCCCCTCTTGTCCCCTCCCCTCTTCTCCCC TCCCCTCCCCTCCCCTCTTGTCCCCTCCCCTCCCCTCTTCTCCCCTCCCC TCCCCTCTTCTCCCCTCCCCTCCCGTCCCCTCCTCTCTTCTCCCCTCCCA TCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCC TCTCCTCCCCTCCCCTCTCCTCTCCACTCCTCCCCTCTCCTCTCCTCCCC TCCCCTCTTCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCGTCCCC TCCCCTCTTCTCCCCTCCCCTCCCGTCCCCTCCTCTCTTCTCCCCTCCCC TCCCGTCCCCTCCTCTCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCTCCTCCCCTCTCCTCCCCTCTCCTCTCCACTCCTCCCCTCTCC TCTCCACTCCTCCCCTCTCCTCTCCTCCCCTCTCCTCTCCTCCCCTCTCC TCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCCCC TCTCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCTCCTCCCCTCTCC TCCCCTCCCCTCTCTTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTCTCC TCCCCTCCCCTCCCCTCCTTTCCTCAATATTATAGCTAGTAGAATTTTCA GAAAATATTAAAAAATATAAAAGTAACATTTTTTCACACTCTCACTGTAA TCTGAATTTGCTTGCAGCTCCAAAGAAGGTTTTTAGTAATGTCTTCAAAG AAACAATCTTTATAAGAAAAAAATAAACTAGTTTCCTCAAAATTCAGATT TTATTATATTTTTTCTCTTACAGAGTATTCAAAAGCTCTTCCTGGTCTCT CCACTTCATATGCTGCTTTGTTAAGAATTAAGAAGAGTTCATCTTCATCT CTCTTTGGTTCCAAAACCAGACCATGATACAGCAGCCCTTCATTAGGAAC ACTGAGTGCTTCTTCACCCAGCTGGCGAGGGGCAGCTCAGAATTATTATT CCCCCATCAATCTTTATCATTCCTCAGATGCCAACTGAGGAACCAGGCAT TATTTTGTCGATAGATCCAAAATTGACAAAGGTAGACAACATCTAGAAAA TATTATTCAAACTATAAAGCCAATAGCTGTAGAGCAGTCTTTAATTTAAC TGATATCTTAGTGTTGGATATATAGATTTTTTCTTATTTTCCATTCATAA GTAATGCTAAGTATATACTTATCTTTGCGTGCTCTCTTTATTATTTTCTT ACACAGAATACACTTCCAGAAATAAAACCACTGGATTGAAGGATAGGTCT GTTTTATGTTTCCGATATTCACTGTCAAATTGGCCTTCCAAAAATGTCTA TTTTTACTTTCATTCTACGAGAGTATTTAGTCTTAATCCTAAATTATAAT TGGTATAGAGTGCAATTCGAATAGAGTGCTCTCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCTCTCCCCTCTCCT CCCCTCCCCTCTCCTCTCCTCCCCTGTTCTCCCCTCCCCTCCCCTCTTGT CCCCTCCCCTCCCCTCTTGTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCT CTTGTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCCCCTCCCCT CTCCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCT GTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCT GTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCCTCCCCTCTCCTCCCC TGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCC TGTTCTCTCCTCCCCTCTCCTCCCCTGTTCTCTCCTCCCCTCCCCTCTCC TCCCCTCCCCTCCCCTCTCCTCTCTACTCCTCCCCTCTCCTCTCCTCCCC TCCCCTCCCCTCTCCTCTCCTCCCCTGTTCTCCCCTCTCCTCCCCTGTTC TCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCC TCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCC TCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCTTCCCCTGTTCTCCCC TCCCCTCTCCTCCCCTCT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
ITPK1_chr14_92931914_93120925	93106218	C C	CAAAGGCT others(2743): Show CAAAGGCTGGACTGAGGTTTCCAGGTAACTGTGCTTTGAAGAAAGAGGTG GAACTTTGCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGT CTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCT CTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCC TCTCCCTCTCATGCCGAGCCAAAGCTGGACGGTACTGCTGCCATCTCGGC TCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCT GCGATTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGTTTTTTTTTT GGTGGAGATGGGGTTTCACTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAA CCGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGAT GGAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGG CGTGATCTCGGCTCGCTACAACCACCTCCCAGCCGCCTGCCTTGGCCTCC CAAAGAGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAG TGAGGAGCGTCTCTGCTTGGCCACCCATCGTCTGGGATATGAGGAGCCCC TCTGCCTGGCTGCCCAGTGTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGC CATCCCATCTAGGAAGCGAGAAGCGCCTCTTCCCCGCCGCCATCCCATCT AGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGG AGCACCTCTGCCCCACCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCTG GGCCGCAACCCTGTCTGGGAGGTGAGGAGTGTCTCTGCCCGGCCGCTCCG TCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGT GAGGAGCCCCTCCGTCTGGCAACCACCCCGTCTGGGAAGTGAGGAGCGTC TCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC CGGGAGGGAGGCGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGT GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCG CCCGGCCAGCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCT GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGG GGGAGGTGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGATCAGCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCACCCCGCC CGGCCAGCCGTCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCTGCCT GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGAACAGCCCCCCGCCCGGCCAGCCGCCCTATCCAGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCTGGCCAGCCGCCCCGTCCGGGAGGGCGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCATCTGGGAGGTGAGGGGCACTTCTGCCGGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCTGGG AGGTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGCGGTT TTGTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGAT GGTTGCTGGGTCTGTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTT GTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGA CCTTATCCCCAACCCTGTGCTCTCTGAGACATGTGCTGTGTCCACTCAGG GTTAGATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTT GAGGGCAGCATGCTCGTTGAGAGTCATCACCACTCCCTAATCTTAAGTAC CCAGGGACACAAACGCTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAA CCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTG TCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATC AATAAAAATAAAAAATAAAAAAAAATAAAAAAAAATAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0235 a0001c0001t0006g0235	1	243	0.0041	2750	c.95+ others(2765): Show c.95+8850_95+8851insTTTTTTTTTTTTTTTATTTTTTTTTATTTT TTTTTATTTTTTATTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGG GGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAA CAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTT CCGCAGCGTTTGTGTCCCTGGGTACTTAAGATTAGGGAGTGGTGATGACT CTCAACGAGCATGCTGCCCTCAAGCATCTGTTTAACAAAGCACATCTTGC ACCGCCCTTAATCCATCTAACCCTGAGTGGACACAGCACATGTCTCAGAG AGCACAGGGTTGGGGATAAGGTCACAGATCAACAGGATCCCAAGGCAGAA GAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCT ATCCACACAGACCCAGCAACCATCCGATTTCTCAATTTTTTCCCCACCCT TCCCGCCTTTCTATTCCACAAAACCGCCATTGTCATCATGGCCCATCCCC AATGAGCCGCTGGGCACACCTCCCAGACGGGGTCGTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCCGGCAGAAGTGCCCCTCACCTCC CAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCGCCCTCCC GGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCTGGATAGGGCGGCTGGCCGGGCG GGGGGCTGTTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGATCCCCCCACCTCCCT CCCGGACGGGACGGCTGGCCGGGCGGGGTGCTGACCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGG CAGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGCTGACCCCACCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTC CCGGACTGGGCGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGACGGGGTGGT TGCCAGACGGAGGGGCTCCTCACTTCTCAGACGGGGCGGTTGCCAGGCAG AGGGTTTCCTCACTTCTCAGACGGAGCGGCCGGGCAGAGACACTCCTCAC CTCCCAGACAGGGTTGCGGCCCAGCAGAGGCGCTCCTCACATCCCAGACA GGGCGGTGGGGCAGAGGTGCTCCCCACATCTCAGACGATGGGCGGCCGGG CAGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCGGGGAAGAGGCGCT TCTCGCTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTC CACACTGGGCAGCCAGGCAGAGGGGCTCCTCATATCCCAGACGATGGGTG GCCAAGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGA GGCTGCAATCTCGGCTCTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGG TTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGA GCACTGAGTGAACGAGACTCCATCTGCAATCCCGGCACCTCGGGAGGCCG AGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACA CAGTGAAACCCCATCTCCACCAAAAAAAAAACGAAAACCAGTCAGGCGTG GCGGCGCGCGCCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAGGAGAAT CAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACCGTCCAGCTT TGGCTCGGCATGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGG AGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGG AGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGG GAGAGGGAGAGGGCAAAGTTCCACCTCTTTCTTCAAAGCACAGTTACCTG GAAACCTCAGTCCAGCCTTT	ITPK1	ENSG00000100605.17	transcript	ENST00000267615.11	protein_coding	2/10			chr14	TogoVar
MRPL22_chr5_154936073_154974411	154958481	A A	ACATTCTT others(2743): Show ACATTCTTTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTATTTTTTTTATTTTTTATTTTTATTGATCATTCTTGGGTGT TTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAG GTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGG ACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTAAGATTAGGG AGTGGTGATGACTCTCAACGAGCATGCTGCCCTCAAGCATCTGTTCAACA AAGCACATCTTGCACCGCCCTTAATCCATCTAACCCTGAGTGGACACAGC ACATGTCTCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATCAACAGGA TCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCC CATGTCTACTTCTATCCACACAGACCCAGCAACCATCCGATTTCTCAATT TTTTCCCCACCCTTCCCGCCTTTCTATTCCACAAAACCGCCATTGTCATC ATGGCCCATCCCCAATGAGCCGCTGGGCACACCTCCCAGACGGGGTCGTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCCGGCAGAAGT GCCCCTCACCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCGCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGATAGGGC GGCTGGCCGGGCGGGGGCTGTTCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCAGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGATCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCAGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGG CTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCC CCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGC GGCTGGCCGACCCCCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGA GACGCTCCTCACTTCCCAGACGGGGTGGTTGCCAGACGGAGGGGCTCCTC ACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTTTCCTCACTTCTCAGA CGGAGCGGCCGGGCAGAGACACTCCTCACCTCCCAGACAGGGTTGCGGCC CAGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGTGGGGCAGAGGTGCT CCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCT AGATGGGATGGCGGCGGGGAAGAGGCGCTTCTCGCTTCCTAGACGGGATG GCGGCCGGGCAGAGACGCTCCTCACTTTCCACACTGGGCAGCCAGGCAGA GGGGCTCCTCATATCCCAGACGATGGGTGGCCAAGCAGAGACGCTCCTCA CTTCCCAGACGGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCTCTTT GGGAGGCCAAGGCAGGCGGCTGGGAGGTGGTTGTAGCGAGCCGAGATCAC GCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACGAGACTC CATCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCG GTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCATCTCCAC CAAAAAAAAACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTGCAATCGC AGGCACTCAGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGA GCCGAGATGGCAGCAGTACCGTCCAGCTTTGGCTCGGCATGAGAGGGAGA GGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAG AGGGAGAGGGAGACGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGA GAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGA C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	358	0.0028	2750	c.339 others(2767): Show c.339+1284_339+1285insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTATTTTTTTTATTTTTTATTTTTATTGATCATTCTT GGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGA GGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGG CAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTAAGA TTAGGGAGTGGTGATGACTCTCAACGAGCATGCTGCCCTCAAGCATCTGT TCAACAAAGCACATCTTGCACCGCCCTTAATCCATCTAACCCTGAGTGGA CACAGCACATGTCTCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATCA ACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAA GTCTCCCATGTCTACTTCTATCCACACAGACCCAGCAACCATCCGATTTC TCAATTTTTTCCCCACCCTTCCCGCCTTTCTATTCCACAAAACCGCCATT GTCATCATGGCCCATCCCCAATGAGCCGCTGGGCACACCTCCCAGACGGG GTCGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCCGGC AGAAGTGCCCCTCACCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCGCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGA TAGGGCGGCTGGCCGGGCGGGGGCTGTTCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCAGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCAGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGAC GAGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGC TGACCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTG ACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGC CGGGGCGGCTGGCCGACCCCCCCCCCCCCCCCCCCCCCCCCCCCGCCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCG GGCGGAGACGCTCCTCACTTCCCAGACGGGGTGGTTGCCAGACGGAGGGG CTCCTCACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTTTCCTCACTT CTCAGACGGAGCGGCCGGGCAGAGACACTCCTCACCTCCCAGACAGGGTT GCGGCCCAGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGTGGGGCAGA GGTGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCA CTTCCTAGATGGGATGGCGGCGGGGAAGAGGCGCTTCTCGCTTCCTAGAC GGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCACACTGGGCAGCCA GGCAGAGGGGCTCCTCATATCCCAGACGATGGGTGGCCAAGCAGAGACGC TCCTCACTTCCCAGACGGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGG CTCTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGTTGTAGCGAGCCGA GATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACG AGACTCCATCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCA CTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCAT CTCCACCAAAAAAAAACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTGC AATCGCAGGCACTCAGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGGTTG CAGTGAGCCGAGATGGCAGCAGTACCGTCCAGCTTTGGCTCGGCATGAGA GGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGA CGGGAGAGGGAGAGGGAGACGGGAGAGGGAGACGGGAGAGGGAGAGGGAG ACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGA GAGGGACCATTCTTTATCTTTT	MRPL22	ENSG00000082515.18	transcript	ENST00000523037.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPAAR_chr9_35904490_35916686	35913964	T T	TAGTGTGT others(2743): Show TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGT GTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTG GTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGT ATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTT TTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGT GTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGT GTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGA GTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGT GAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTA TGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGC TGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGT AAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGT AAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGTTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGT GTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGT GTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTG GTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGT ATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTT TTGTATGCTGTGGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTT TTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGT GTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGT GTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGA GTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTA GTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTG TGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTA TGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGT TGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGT AAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGT GTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTG TGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTAT GCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTT GTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGT TTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGT GTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGT GTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	420	0.0048	2750	c.32 others(2761): Show c.3273_*3274insAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCT GTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTA TGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTT TGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTG TTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTG TGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAG TGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAG TGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTT GTATGTGTGTAGTGAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTG TGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGT GGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATG CTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATG CTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTG TATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTTTTTGTA TGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTT TGTTTGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTG TTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTG TGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAG TGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAG TGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAG TGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTAAGTTGTATGTGTGTAG TGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTT GTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTA AGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTG TGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTG TGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGT GGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATG CTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTG TATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTT TTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTG TGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTG TGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTG AGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGT AGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGT GTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGT ATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG CTGTATGTGTGTAGTG	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2279		chr9	TogoVar
SPIC_chr12_101470336_101491997	101484138	A A	AGAAAGCT others(2743): Show AGAAAGCTTTTTTTTTTTTTTTTTTTTTTTTATTTATTTATTTATTTTTT TTATTTTATTTTTTTTTTTTTATTGATCATTCTTGGGTGTTTCTCGCAGA GGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGAT AAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGC CTTCCGCAGCGTTTGTGTCCCTGGGTACTTAAGATTAGGGAGTGGTGATG ACTCTCAACGAGCATGCTGCCCTCAAGCATCTGTTCAACAAAGCACATCT TGCACCGCCCTTAATCCATCTAACCCTGAGTGGACACAGCACATGTCTCA GAGAGCACAGGGTTGGGGATAAGGTCACAGATCAACAGGATCCCAAGGCA GAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACT TCTATCCACACAGACCCAGCAACCATCCGATTTCTCAATTTTTTCCCCAC CCTTCCCGCCTTTCTATTCCACAAAACCGCCATTGTCATCATGGCCCATC CCCAATGAGCCGCTGGGCACACCTCCCAGACGGGGTCGTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCCGGCAGAAGTGCCCCTCACC TCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCTCCGCCCT CCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGATAGGGCGGCTGGCCGG GCGGGGGGCTGTTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGGGGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CAGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAG GCGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTC CCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCC CTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCC GACCCCCCCCCCGCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGACGG GGTGGTTGCCAGACGGAGGGGCTCCTCACTTCTCAGACGGGGCGGTTGCC AGGCAGAGGGTTTCCTCACTTCTCAGACGGAGCGGCCGGGCAGAGACACT CCTCACCTCCCAGACAGGGTTGCGGCCCAGCAGAGGCGCTCCTCACATCC CAGACAGGGCGGCGGGGCAGAGGTGCTCCCCACATCTCAGACGATGGGCG GCCGGGCAGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCGGGGAAGA GGCGCTTCTCGCCTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTC ACTTTCCACACTGGGCAGCCAGGCAGAGGGGCTCCTCATATCCCAGACGA TGGGTGGCCAAGCAGAGACGCTCCTCACTTCCCAGACGGGGGTGGCGGCC GGGCAGAGGCTGCAATCTCGGCTCTCCGGGAGGCCAAGGCAGGCGGCTGG GAGGTGGCTGCAGCGAGCCGAGATCACGCCACCGCACTCCAGCCTGGGCA CCATTGAGCACTGAGTGAACGAGACTCCATCTGCAATCCCGGCACCTCGG GAGGCCGAGGCTGGCGGATCACTCGCGGCCAGGAGCTGGAGACCAGCCCG GCCAACACAGCGAAACCCCATCTCCACCAAAAAAAAACGAAAACCAGTCA GGCGTGGCGGCGCGCGCCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAG GAGAATCAGGCAGGGAGGTCGCAGTGAGCCGAGATGGCAGCAGTACCGTC CAGCTTTGGCTCGGCATGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGA GACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGG AGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGG AGACGGGAGAGGGAGACGGGAGCGTTTAGTCCGGCATTCTCCTTTACACT C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	398	0.0025	2750	c.319 others(2767): Show c.319+1251_319+1252insTTTTTTTTTTTTTTTTTATTTATTTATT TATTTTTTTTATTTTATTTTTTTTTTTTTATTGATCATTCTTGGGTGTTT CTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGT CAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGAC CCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTAAGATTAGGGAG TGGTGATGACTCTCAACGAGCATGCTGCCCTCAAGCATCTGTTCAACAAA GCACATCTTGCACCGCCCTTAATCCATCTAACCCTGAGTGGACACAGCAC ATGTCTCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATCAACAGGATC CCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCA TGTCTACTTCTATCCACACAGACCCAGCAACCATCCGATTTCTCAATTTT TTCCCCACCCTTCCCGCCTTTCTATTCCACAAAACCGCCATTGTCATCAT GGCCCATCCCCAATGAGCCGCTGGGCACACCTCCCAGACGGGGTCGTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCCGGCAGAAGTGC CCCTCACCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC TCCGCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGATAGGGCGG CTGGCCGGGCGGGGGGCTGTTCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGATCCC CCCACCTCCCTCCCGGACGGGGGGGGCTGGCCGGGCGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCAGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGG CTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCC CCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGC GGCTGGCCGACCCCCCCCCCGCCGCCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTC CCAGACGGGGTGGTTGCCAGACGGAGGGGCTCCTCACTTCTCAGACGGGG CGGTTGCCAGGCAGAGGGTTTCCTCACTTCTCAGACGGAGCGGCCGGGCA GAGACACTCCTCACCTCCCAGACAGGGTTGCGGCCCAGCAGAGGCGCTCC TCACATCCCAGACAGGGCGGCGGGGCAGAGGTGCTCCCCACATCTCAGAC GATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGGGATGGCGGC GGGGAAGAGGCGCTTCTCGCCTCCTAGATGGGATGGCGGCCGGGCAGAGA CGCTCCTCACTTTCCACACTGGGCAGCCAGGCAGAGGGGCTCCTCATATC CCAGACGATGGGTGGCCAAGCAGAGACGCTCCTCACTTCCCAGACGGGGG TGGCGGCCGGGCAGAGGCTGCAATCTCGGCTCTCCGGGAGGCCAAGGCAG GCGGCTGGGAGGTGGCTGCAGCGAGCCGAGATCACGCCACCGCACTCCAG CCTGGGCACCATTGAGCACTGAGTGAACGAGACTCCATCTGCAATCCCGG CACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGCCAGGAGCTGGAGA CCAGCCCGGCCAACACAGCGAAACCCCATCTCCACCAAAAAAAAACGAAA ACCAGTCAGGCGTGGCGGCGCGCGCCTGCAATCGCAGGCACTCGGCAGGC TGAGGCAGGAGAATCAGGCAGGGAGGTCGCAGTGAGCCGAGATGGCAGCA GTACCGTCCAGCTTTGGCTCGGCATGAGAGGGAGAGGGAGACGGGAGAGG GAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACG GGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAG GGAGAGGGAGACGGGAGAGGGAGACGGGAGCGTTTAGTCCGGCATTCTCC TTTACACTCGAAAGCTTTTTTT	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(2744): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGGTGATGATGGTGAT GGTGGGGGGTGATGACGGTGGGGCTGGGGGGTGATGACGGTAGGGGGTGA TGACGGTGATGATGGGGGTGGGGGGGGGTGATGACGGTGGGGGTGATGAC GGTGGGGGTGGGGGTGATGACGGTGATGGCGGTAGGGGTGATGACGGTGA TGATGGGGGGTGGGGGGGGGTGATGACGGTGATGATGGGGGTGGGGGGGG GGTGATGACGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGA TGGCGGTAGGGGTGATGACGGTGATGATGGGGGTGGGGGGGGGTGATGAC GGTGATGATGGGGGTGGGGGGGGTGATGACGGTGATGATGGGGGTGGGGG GGGTGATGACGGTGATGATGGGGGTGGGGGGGTGATGACGGTGATGATGG GGGTGGGGGGGTGATGACGGTGATGATGGGGGTGGGGGGGTGATGACGGT GATGATGGGGGGTGGGGGGGGTGATGACGGTGGGGGTGATGACGGTGGGG GGTGATGACGGTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGA CGGTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATG GTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGT GATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGG TGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGGTGGGGGGG TGGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGTGGG GTGATGACGGTGATGGTGGGGGTGATGACGGTGGGGGGTGGGGGTGATGA CGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGGTGGGG GTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGT GATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGGTGATGACGGTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGGT GATGACGGTGGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACG GTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGGTGATGACGGTGGGGG TGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTG ATGGAGGTGGGGGTGGGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGG GTGGGGGGGGGTGATGACGGTGGGGGGTGGGGGTGATGATGGTGGGGGAG TGGGGTGATGACGGTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGGTGATGACGGT GATGGTGGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGAG GGTGATGGACGGTGGGGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATG ATGGTGATAGTAGGGGTGATGATGGTGGGGGTGGGGGTGGGGGGTGGGGG TGATGACGGTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGGTGATGAC GGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTGGGGG TGGGGGGTGATGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGT GGGGGTGATGACGGTGATGGTGGGGGTGATGACGGTGGGGGGTGGGGGTG ATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGT GGGGGTGGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGGGGGGTGGGGGTGATGATGGT GATGGTAGGGGTGATGATGGTGGGGGGTGGGGGTGGGGGGTGGGGGGTGG GGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTG ATGACGGTGATGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGGT GATGGTGGGGGTGATGACGGTGATGGTGAGGGTGATGACGGTGGGGGTGG GGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATG ACGGTGATGGTGGGGTGATGATGGTGGGGGTGGGGGTGATGACGGTGGGG GTGGGGGTGATGACGGTGGGGGGTGGGGGTGATGACGGTGGGGGTGGGGG TGATGATGGTGATGGTAGGGTGATGATGGTGGGGGTGGGGGTGGGGGTGG GGGTGGGGGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGT GGGGTGGTGATGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGT GG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0055 a0055	a0055c0133 a0055c0133	a0055c0133t0001 a0055c0133t0001	a0055c0133t0001g0057 a0055c0133t0001g0057	1	186	0.0054	2751	c.956 others(2768): Show c.956+1962_956+1963insCCACCCCCACCCCCACCATCATCACCCC CACCATCACCATCATCACCACCCCACCCCCACCCCCACCATCACCCCCAC CATCATCACCCTCACCCCCCACCCCCACCCCCACCCCCACCCCCACCATC ATCACCCTACCATCACCATCATCACCCCCACCCCCACCGTCATCACCCCC ACCCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCA CCATCATCACCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCA CCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCTCACC ATCACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCATCACCGT CATCACCCCCACCATCACCGTCATCACCCCCACCCCCACCCCCACCATCA CCCCCACCATCATCACCCTCACCCCCACCCCCCACCCCCCACCCCCACCC CCCACCATCATCACCCCTACCATCACCATCATCACCCCCACCCCCCACCG TCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACC CCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCC CCACCGTCATCACCCCCCACCCCCACCGTCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCCCACCGTCATCACC CCCACCATCACCGTCATCACCCCCACCCCCACCCCCACCATCATCACCCC CACCATCACCATCATCACCCCCCACCCCCACCATCATCACCCCCACCCCC ACCGTCATCACCCCCACCCCCACCGTCATCACCCCCCACCCCCACCGTCA TCACCCCCACCATCACCGTCATCACCCCCACCCCCCACCCCCACCCCCAC CATCATCACCCCTACTATCACCATCATCACCCCCACCCCCACCATCATCA CCCCCACCCCCACCGTCCATCACCCTCACCATCACCGTCATCACCCCCAC CCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCATCACCG TCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCCACCGTCATCAC CCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCC CCACCGTCATCACCCCCCACCATCACCGTCATCACCCCCCACCCCCACCG TCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACC CCCACCATCACCGTCATCACCCCACTCCCCCACCATCATCACCCCCACCC CCCACCGTCATCACCCCCCCCCACCCCCCCACCGTCATCACCCCCACCCC CACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCCCACCCCCACCTCCATCACCCCCACCCCCACCGTCATCACCC CCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCCACCCC CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCATCACCGTCA TCACCCCCACCCCCCACCGTCATCACCCCCCACCCCCACCGTCATCACCC CCACCATCACCGTCATCACCCCCCACCCCCACCGTCATCACCCCCACCCC CACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCCCCACCGTC ATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCATCA CCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCCACCGTCAT CACCCCCACCATCACCGTCATCACCCCACCACCCCCACCGTCATCACCCC CACCCCCACCGTCATCACCCCCCACCCCCCCACCGTCATCACCCCCACCA TCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCATCACCGTC ATCACCCCCACCCCCACCGTCATCACCCCCACCATCACCGTCATCACCCC CACCCCCACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCCCA CCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATC ACCCCCACCATCACCGTCATCACCCCCCACCGTCATCACCCCCACCGTCA TCACCCCCCCCACCCCCCATCATCACCGTCATCACCCCCCCACCCCCATC ATCACCGTCATCACCCCCCCACCCCCATCATCACCGTCATCACCCCCCCA CCCCCATCATCACCGTCATCACCCCCCCCACCCCCATCATCACCGTCATC ACCCCCCCCACCCCCATCATCACCGTCATCACCCCCCCCCACCCCCATCA TCACCGTCATCACCCCTACCGCCATCACCGTCATCACCCCCACCCCCACC GTCATCACCCCCACCGTCATCACCCCCCCCCCACCCCCATCATCACCGTC ATCACCCCCCCCCACCCCCCATCATCACCGTCATCACCCCTACCGCCATC ACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCGTCATCACCCC CCCCCACCCCCATCATCACCGTCATCACCCCCTACCGTCATCACCCCCCA GCCCCACCGTCATCACCCCCCACCATCACCATCATCACCCCCCACCCCCA CCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
MRPL22_chr5_154936073_154974411	154958481	A A	ACATTCTT others(2744): Show ACATTCTTTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTATTTTTTTTATTTTTTATTTTTATTGATCATTCTTG GGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAG GGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGC AGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTAAGAT TAGGGAGTGGTGATGACTCTCAACGAGCATGCTGCCCTCAAGCATCTGTT CAACAAAGCACATCTTGCACCGCCCTTAATCCATCTAACCCTGAGTGGAC ACAGCACATGTCTCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATCAA CAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAG TCTCCCATGTCTACTTCTATCCACACAGACCCAGCAACCATCCGATTTCT CAATTTTTTCCCCACCCTTCCCGCCTTTCTATTCCACAAAACCGCCATTG TCATCATGGCCCATCCCCAATGAGCCGCTGGGCACACCTCCCAGACGGGG TCGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCCGGCA GAAGTGCCCCTCACCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCGCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGAT AGGGCGGCTGGCCGGGCGGGGGCTGTTCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCAGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCAGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACG AGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCT GACCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGA CCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCC GGGGCGGCTGGCCGACCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCG GAGACGCTCCTCACTTCCCAGACGGGGTGGTTGCCAGACGGAGGGGCTCC TCACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTTTCCTCACTTCTCA GACGGAGCGGCCGGGCAGAGACACTCCTCACCTCCCAGACAGGGTTGCGG CCCAGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGTGGGGCAGAGGTG CTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTC CTAGATGGGATGGCGGCGGGGAAGAGGCGCTTCTCGCTTCCTAGACGGGA TGGCGGCCGGGCAGAGACGCTCCTCACTTTCCACACTGGGCAGCCAGGCA GAGGGGCTCCTCATATCCCAGACGATGGGTGGCCAAGCAGAGACGCTCCT CACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCTCTT TGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGTTGTAGCGAGCCGAGATCA CGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACGAGACT CCATCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGC GGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCATCTCCA CCAAAAAAAAACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTGCAATCG CAGGCACTCAGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTG AGCCGAGATGGCAGCAGTACCGTCCAGCTTTGGCTCGGCATGAGAGGGAG AGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGA GAGGGAGAGGGAGACGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGG AGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGG AC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0109 a0001c0002t0002g0109	1	358	0.0028	2751	c.339 others(2768): Show c.339+1284_339+1285insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTATTTTTTTTATTTTTTATTTTTATTGATCA TTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATA GTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTC CTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACT TAAGATTAGGGAGTGGTGATGACTCTCAACGAGCATGCTGCCCTCAAGCA TCTGTTCAACAAAGCACATCTTGCACCGCCCTTAATCCATCTAACCCTGA GTGGACACAGCACATGTCTCAGAGAGCACAGGGTTGGGGATAAGGTCACA GATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAAT GAAAAGTCTCCCATGTCTACTTCTATCCACACAGACCCAGCAACCATCCG ATTTCTCAATTTTTTCCCCACCCTTCCCGCCTTTCTATTCCACAAAACCG CCATTGTCATCATGGCCCATCCCCAATGAGCCGCTGGGCACACCTCCCAG ACGGGGTCGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CCGGCAGAAGTGCCCCTCACCTCCCAGATGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCGCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CTGGATAGGGCGGCTGGCCGGGCGGGGGCTGTTCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCAGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAG GGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGATCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCC CGGACGAGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTG GGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGG GGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTC CCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCCCCCCCCCCCCCCCGCCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGC CGGGCGGAGACGCTCCTCACTTCCCAGACGGGGTGGTTGCCAGACGGAGG GGCTCCTCACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTTTCCTCAC TTCTCAGACGGAGCGGCCGGGCAGAGACACTCCTCACCTCCCAGACAGGG TTGCGGCCCAGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGTGGGGCA GAGGTGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCT CACTTCCTAGATGGGATGGCGGCGGGGAAGAGGCGCTTCTCGCTTCCTAG ACGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCACACTGGGCAGC CAGGCAGAGGGGCTCCTCATATCCCAGACGATGGGTGGCCAAGCAGAGAC GCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCG GCTCTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGTTGTAGCGAGCCG AGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAAC GAGACTCCATCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATC ACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCA TCTCCACCAAAAAAAAACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTG CAATCGCAGGCACTCAGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGGTT GCAGTGAGCCGAGATGGCAGCAGTACCGTCCAGCTTTGGCTCGGCATGAG AGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAG ACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGACGGGAGAGGGAGAGGGA GACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGG AGAGGGACCATTCTTTATCTTTT	MRPL22	ENSG00000082515.18	transcript	ENST00000523037.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
PNPLA7_chr9_137454952_137555402	137502685	A A	AGGGGGAT others(2744): Show AGGGGGATGTGGGAGATGAGGGGGACGCGGGGGACGGGGGGGACGCGGGG GACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGGACGCGGGGGGAC GCGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGAGGGGGACGCGG GGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGAC GGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGGACGCGGGGGACGGG GGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGA CGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGGGG GGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGAC GGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGG GGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGGAC GCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGG GGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGCGGGGGGGGCG AGGGGGGCGCGGGGGGCGCGGGGGGACGGGGGGGACGGGGGGGACGCGGG GGACGCGGGGGACGGGGGGGACGCGGGGGGCGGGGGGGGCGAGGGGGGCG CGGGGGGCGCGGGGGACGGGGGGACGGGGGGGACGGGGGGGGACGGGGGG GCGAGGGGGGGCGCGGGGGACGCGGGGGACGGGGGGGACGGGGGGGGGAC GGGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGACGGGGGGGACG GGGGGGACGCGGGGGGGGACGGGGGGGACGCGGGGGGGACGGGGGGGACG GGGGGGGACGGGGGGGACGCGGGGGGGACGGGGGGGACGCGGGGGGGACG CGGGGGACGCGGGGGACGGGGGGGACGCGGGGGGGGACGGGGGGGGACGC GGGGGGGACGCGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGCG GGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGGGACGGGG GGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGACGGGGGGGACGGGGG GGACGCGGGGGGGACGGGGGGGACGCGGGGGGGACGCGGGGGGGACGCGG GGGACGGGGGGGACGGGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGG GGACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACG CGGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGGACG GGGGGGACGCGGGGGGGACGCGGGGGACGCGGGGGACGCGGGGGACGCGG GGGGGACGGGGGGGACGCGGGGGGGACGCGGGGGACGGGGGGGACGCGGG GGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGACGGGGGGGACGCGG GGGACGCGGGGGACGGGGGGGGACGGGGGGGACGAGGGGGACGCGGGGGA CGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGG GGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGCGGGGGGG GACGCGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGC GGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGGGGGGG ACGCGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGG GGGGACGCGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGG GCGGGGGGGGCGCGGGGGGCGCGGGGGACGGGGGGGACGGGGGGGACGCG GGGGACGCGGGGGACGGGGGGGACGCGGGGGGCGGGGGGGGCGCGGGGGG CGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGGACGCGGGGGGCGCG GGGGGCGCGGGGGGCGCGGGGGACGCGGGGGACGCGGGGGGCGGGGGGGG CGCGGGGGGCGCGGGGGGCGCGGGGGACGGGGGGGACGGGGGGGACGCGG GGGGGACGGGGGGGGACGCGGGGGGGACGCGGGGGACGGGGGGGACGGGG GGGACGCGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGAC GGGGGGGACGGGGGGGACGCGGGGGGGCGAGGGGGGCGAGGGGGGGGCGC GGGGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGACGCGGGGGAC GGGGGGGACGGGGGGGACGGGGGGGGGCGCGGGGGGCGCGGGGGACGGGG GGGGACGCGGGGGGGACGGGGGGGACGCGGGGGGGGACGCGGGGGGGACG CGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGG GACGAGGGGGGCGAGGGGGGCGCGGGGGGCGCGGGGGACGGGGGGGACGC GGGGGGGACGCGGGGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGG ACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGG GGGGGGCGCGGGGGGACGCGGGGGGCGGGGGGGGGCGAGGGGGGCGCGGG GGGGCGCGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGGCGGGGG GGGCGGGGGGGGACGGGGGGGACGGGGGGGCGGGGGGGGACGCGGGGGAC GG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	188	0.0053	2751	c.147 others(2768): Show c.1474-959_1474-958insCCGTCCCCCGCGTCCCCCCCCGCCCCCC CGTCCCCCCCGTCCCCCCCCGCCCCCCCCGCCCCCCGCGTCCCCCCCGCG TCCCCCCCGCGTCCCCCGCGCCCCCCCGCGCCCCCCTCGCCCCCCCCCGC CCCCCGCGTCCCCCCGCGCCCCCCCCCGTCCCCCCCGTCCCCCCCGTCCC CCCCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGCGTCCCCCC CGCGTCCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCGCGCCCCC CGCGCCCCCCTCGCCCCCCTCGTCCCCCCCGTCCCCCCCGTCCCCCCCGT CCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGCGTCCCCCCCCGCGT CCCCCCCGTCCCCCCCGCGTCCCCCCCCGTCCCCCGCGCCCCCCGCGCCC CCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCC CGCGTCCCCCCCGCGTCCCCCCCCGCGCCCCCCCCTCGCCCCCCTCGCCC CCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCG CGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCC CCCCCGCGTCCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCCCCCCCGTCC CCCGCGCCCCCCGCGCCCCCCGCGCCCCCCCCGCCCCCCGCGTCCCCCGC GTCCCCCGCGCCCCCCGCGCCCCCCGCGCCCCCCGCGTCCCCCCCCGTCC CCCCCGTCCCCCCCGTCCCCCGCGCCCCCCGCGCCCCCCCCGCCCCCCGC GTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCC CCGCGCCCCCCGCGCCCCCCCCGCCCCCCGCGTCCCCCCCGTCCCCCGCG TCCCCCCCGTCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCC CCGCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCG TCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCC CGCGTCCCCCCCGTCCCCCGCGTCCCCCCCCGCGTCCCCCGCGTCCCCCC CGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCC CCCCCGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCTCGTCCCCCCC GTCCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCC CCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCGCGTC CCCCCCGCGTCCCCCCCGTCCCCCCCGCGTCCCCCGCGTCCCCCGCGTCC CCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCCC CCCCGTCCCCCCCGTCCCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCC GCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCCCG CGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCCCGC GTCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTC CCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCCCGCGTCCCCCCCGT CCCCCGCGTCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCCCCCGCGTCCC CCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCCGTCCCCCCCCGCGT CCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCC CCCCGCGTCCCCCCCGTCCCCCCCCGTCCCCCCCGTCCCCCCCGCGTCCC CCCCGTCCCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCC CCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCCCCCGTCCCCCCCGTCCCC CGCGTCCCCCGCGCCCCCCCTCGCCCCCCCGTCCCCCCCCGTCCCCCCCG TCCCCCCGTCCCCCGCGCCCCCCGCGCCCCCCTCGCCCCCCCCGCCCCCC GCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTC CCCCCGCGCCCCCCGCGCCCCCCTCGCCCCCCCCGCCCCCCGCGTCCCCC CCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTC CCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCCGTCCCCCGCGTCCCCC CCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTC CCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCG CGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCC CCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCC GTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGCGTC CCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCG CGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCTCGTCCCCCCCGTCC CCCCCGTCCCCCGCGTCCCCCCGCGTCCCCCCGCGTCCCCCCGCGTCCCC CCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGT CCCCCTCATCTCCCACATCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
SGMS1_chr10_50300600_50628956	50406704	C C	CTTTTTTT others(2744): Show CTTTTTTTTTTTTTTCTTCAGAGATAGGGTCTTCCTCTATCACCCAGGCT GGAGTGCAGTGGTGTGATCCTAGCTCACTGCAGCCTTGTCCCCTTGGGCT TAAGAGACACTCCCACCTCAGCCTCCCAGGCAGCTAGGGCTACAGGCATG CATCACCACACCTAGGTAATTTTTTTGTTTGTTTGTTTGTTTTTATAGAG ACAGTGTCTTGCTATGTTGCCCAGGCAGGTCCTGCGCTCCTGGCCTCAAG TAATCTTCCTGCCTTGGCCTCCCAAAGCAGTGCTGGGATTACAGGTATGA ACTACCTCACCTGGCCCTAATAAGTCTTAATATTAAACTTTCCTTGTTTA AACTACTATGCAGTTTCTGCTCCCAGACTGAACTGATGATATACTCCCTT TACTAGTAGCATTTCTGCAGTAGGCCCAGTGGCAACGTGCACAAGTAAAA GAGCAAGAATTAGCATTTTTCCAGTTCTGTCCCTATCATGGCTTAAACTG TTTAACCTCTCTGGATTTGCTAAGTGATATATCATAGAATGTGCCGATAA AAATCTAGGTGAAGAAGTGGTTAATCCTCAAAAGTCCCCTAGTGATGTCA CTATGAATAGCACAGGTAATAAAACCACAAAAATGTGAGCATTCTAAGGA AAATGATGAAGTACTACTGGAAGGAAAACCCCACCTAAATATATATATAC ACACACACATACACATACATGTGCAATTACCTTGTTGAAAAAAATAATAA TAAAGGCTCTGAGAAGAAGGGTGGTCTTGTTTTTCTCCCTGTGTCAGTTA TCAATTTACTGCCTCTCAGCTACAAATTCACCATTTACAGCCTGATTTGC AAAAGGGGATCTGAGCCCTGTAAGTATTTTCCATTTGCTAGCTGACATGA TGTTTGTTAATTTTTGTCTGTAGAAAATGCTAGAGAGACATTGTAGGAAG GAGTTTTGCTTCCTGGTCTGATCAGGAGTCACATCAGACTCCTGTCGGAT GTGCAGCTTCTCCAAAGCCTGTCTCAAACAGTTTTTAGCAGAGTGCCTCC AGTAGATATCCGCCCATGAATAGCTTTCCCTGGGACCATGAAGGATGGAT TTTCAGCAAGTTCTGGAAGGCAGATTTTTAGTAAGTTTTGCTGGTGTGGC ACTACAGCAACTGCTCTGCCATGCAGTGAATCAAGGACGTGTCCTCTCCA ACAAGGTCTGGATCTCAGCTCTGAGAGGGGGTAGGAAGTTGGTCTCTTCC TTGGATCCTCTATCTCAGCCATTGGAGTAGTAGATGCTACCTATATCTGC TATTTCTATAGAGTTCTGTTTACTTTTTATTAGCCAATCTTATCATTGCT CCAATCCTTTGTTATAGCTATAATTCTTTTTTTTTTTTTTCTTCAGAGAT AGGGTCTTCCTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATCCTAGCT CACTGCAGCCTTGTCCCCTTGGGCTTAAGAGACACTCCCACCTCAGCCTC CCAGGCAGCTAGGGCTACAGGCATGCATCACCACACCTAGGTAATTTTTT TGTTTGTTTGTTTGTTTTTATAGAGACAGTGTCTTGCTATGTTGCCCAGG CAGGTCCTGCGCTCCTGGCCTCAAGTAATCTTCCTGCCTTGGCCTCCCAA AGCAGTGCTGGGATTACAGGTATGAACTACCTCACCTGGCCCTAATAAGT CTTAATATTAAACTTTCCTTGTTTAAACTACTATGCAGTTTCTGCTCCCA GACTGAACTGATGATATACTCCCTTTACTAGTAGCATTTCTGCAGTAGGC CCAGTGGCAACGTGCACAAGTAAAAGAGCAAGAATTAGCATTTTTCCAGT TCTGTCCCTATCATGGCTTAAACTGTTTAACCTCTCTGGATTTGCTAAGT GATATATCATAGAATGTGCCGATAAAAATCTAGGTGAAGAAGTGGTTAAT CCTCAAAAGTCCCCTAGTGATGTCACTATGAATAGCACAGGTAATAAAAC CACAAAAATGTGAGCATTCTAAGGAAAATGATGAAGTACTACTGGAAGGA AAACCCCACCTAAATATATATATACACACACACATACACATACATGTGCA ATTACCTTGTTGAAAAAAATAATAATAAAGGCTCTGAGAAGAAGGGTGGT CTTGTTTTTCTCCCTGTGTCAGTTATCAATTTACTGCCTCTCAGCTACAA ATTCACCATTTACAGCCTGATTTGCAAAAGGGGATCTGAGCCCTGTAAGT ATTTTCCATTTGCTAGCTGACATGATGTTTGTTAATTTTTGTCTGTAGAA AATGCTAGAGAGACATTGTAGGAAGGAGTTTTGCTTCCTGGTCTGATCAG GAGTCACATCAGACTCCTGTCGGATGTGCAGCTTCTCCAAAGCCTGTCTC AAACAGTTTTTAGCAGAGTGCCTCCAGTAGATATCCGCCCATGAATAGCT TTCCCTGGGACCATGAAGGATGGATTTTCAGCAAGTTCTGGAAGGCAGAT TTTTAGTAAGTTTTGCTGGTGTGGCACTACAGCAACTGCTCTGCCATGCA GTGAATCAAGGACGTGTCCTCTCCAACAAGGTCTGGATCTCAGCTCTGAG AGGGGGTAGGAAGTTGGTCTCTTCCTTGGATCCTCTATCTCAGCCATTGG AGTAGTAGATGCTACCTATATCTGCTATTTCTATAGAGTTCTGTTTACTT TTTATTAGCCAATCTTATCATTGCTCCAATCCTTTGTTATAGCTATAATT CT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0191	1	312	0.0032	2751	c.-23 others(2772): Show c.-232+26771_-232+26772insAGAATTATAGCTATAACAAAGGAT TGGAGCAATGATAAGATTGGCTAATAAAAAGTAAACAGAACTCTATAGAA ATAGCAGATATAGGTAGCATCTACTACTCCAATGGCTGAGATAGAGGATC CAAGGAAGAGACCAACTTCCTACCCCCTCTCAGAGCTGAGATCCAGACCT TGTTGGAGAGGACACGTCCTTGATTCACTGCATGGCAGAGCAGTTGCTGT AGTGCCACACCAGCAAAACTTACTAAAAATCTGCCTTCCAGAACTTGCTG AAAATCCATCCTTCATGGTCCCAGGGAAAGCTATTCATGGGCGGATATCT ACTGGAGGCACTCTGCTAAAAACTGTTTGAGACAGGCTTTGGAGAAGCTG CACATCCGACAGGAGTCTGATGTGACTCCTGATCAGACCAGGAAGCAAAA CTCCTTCCTACAATGTCTCTCTAGCATTTTCTACAGACAAAAATTAACAA ACATCATGTCAGCTAGCAAATGGAAAATACTTACAGGGCTCAGATCCCCT TTTGCAAATCAGGCTGTAAATGGTGAATTTGTAGCTGAGAGGCAGTAAAT TGATAACTGACACAGGGAGAAAAACAAGACCACCCTTCTTCTCAGAGCCT TTATTATTATTTTTTTCAACAAGGTAATTGCACATGTATGTGTATGTGTG TGTGTATATATATATTTAGGTGGGGTTTTCCTTCCAGTAGTACTTCATCA TTTTCCTTAGAATGCTCACATTTTTGTGGTTTTATTACCTGTGCTATTCA TAGTGACATCACTAGGGGACTTTTGAGGATTAACCACTTCTTCACCTAGA TTTTTATCGGCACATTCTATGATATATCACTTAGCAAATCCAGAGAGGTT AAACAGTTTAAGCCATGATAGGGACAGAACTGGAAAAATGCTAATTCTTG CTCTTTTACTTGTGCACGTTGCCACTGGGCCTACTGCAGAAATGCTACTA GTAAAGGGAGTATATCATCAGTTCAGTCTGGGAGCAGAAACTGCATAGTA GTTTAAACAAGGAAAGTTTAATATTAAGACTTATTAGGGCCAGGTGAGGT AGTTCATACCTGTAATCCCAGCACTGCTTTGGGAGGCCAAGGCAGGAAGA TTACTTGAGGCCAGGAGCGCAGGACCTGCCTGGGCAACATAGCAAGACAC TGTCTCTATAAAAACAAACAAACAAACAAAAAAATTACCTAGGTGTGGTG ATGCATGCCTGTAGCCCTAGCTGCCTGGGAGGCTGAGGTGGGAGTGTCTC TTAAGCCCAAGGGGACAAGGCTGCAGTGAGCTAGGATCACACCACTGCAC TCCAGCCTGGGTGATAGAGGAAGACCCTATCTCTGAAGAAAAAAAAAAAA AAGAATTATAGCTATAACAAAGGATTGGAGCAATGATAAGATTGGCTAAT AAAAAGTAAACAGAACTCTATAGAAATAGCAGATATAGGTAGCATCTACT ACTCCAATGGCTGAGATAGAGGATCCAAGGAAGAGACCAACTTCCTACCC CCTCTCAGAGCTGAGATCCAGACCTTGTTGGAGAGGACACGTCCTTGATT CACTGCATGGCAGAGCAGTTGCTGTAGTGCCACACCAGCAAAACTTACTA AAAATCTGCCTTCCAGAACTTGCTGAAAATCCATCCTTCATGGTCCCAGG GAAAGCTATTCATGGGCGGATATCTACTGGAGGCACTCTGCTAAAAACTG TTTGAGACAGGCTTTGGAGAAGCTGCACATCCGACAGGAGTCTGATGTGA CTCCTGATCAGACCAGGAAGCAAAACTCCTTCCTACAATGTCTCTCTAGC ATTTTCTACAGACAAAAATTAACAAACATCATGTCAGCTAGCAAATGGAA AATACTTACAGGGCTCAGATCCCCTTTTGCAAATCAGGCTGTAAATGGTG AATTTGTAGCTGAGAGGCAGTAAATTGATAACTGACACAGGGAGAAAAAC AAGACCACCCTTCTTCTCAGAGCCTTTATTATTATTTTTTTCAACAAGGT AATTGCACATGTATGTGTATGTGTGTGTGTATATATATATTTAGGTGGGG TTTTCCTTCCAGTAGTACTTCATCATTTTCCTTAGAATGCTCACATTTTT GTGGTTTTATTACCTGTGCTATTCATAGTGACATCACTAGGGGACTTTTG AGGATTAACCACTTCTTCACCTAGATTTTTATCGGCACATTCTATGATAT ATCACTTAGCAAATCCAGAGAGGTTAAACAGTTTAAGCCATGATAGGGAC AGAACTGGAAAAATGCTAATTCTTGCTCTTTTACTTGTGCACGTTGCCAC TGGGCCTACTGCAGAAATGCTACTAGTAAAGGGAGTATATCATCAGTTCA GTCTGGGAGCAGAAACTGCATAGTAGTTTAAACAAGGAAAGTTTAATATT AAGACTTATTAGGGCCAGGTGAGGTAGTTCATACCTGTAATCCCAGCACT GCTTTGGGAGGCCAAGGCAGGAAGATTACTTGAGGCCAGGAGCGCAGGAC CTGCCTGGGCAACATAGCAAGACACTGTCTCTATAAAAACAAACAAACAA ACAAAAAAATTACCTAGGTGTGGTGATGCATGCCTGTAGCCCTAGCTGCC TGGGAGGCTGAGGTGGGAGTGTCTCTTAAGCCCAAGGGGACAAGGCTGCA GTGAGCTAGGATCACACCACTGCACTCCAGCCTGGGTGATAGAGGAAGAC CCTATCTCTGAAGAAAAAAAAAAAAAA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	6/10			chr10	TogoVar
DCLK2_chr4_150073445_150262438	150251217	A A	ACCCCCCC others(2745): Show ACCCCCCCACACACCCCCCACACCACACATCCCTCACACCACACATCCCT CACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACC CCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCACA CACCCCCCACACCACACATCCCTCACACCCCCACACACCCCCCACACCAC ACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCCCCACACA CCCCCCACACCACACATCCCTCACACCCCCCCACACCCCCCACACCACAC ATCCCTCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCT CACACCCCCCAACACCCCCACACACCCCCCACACCACACATCCCCCACAC CCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCA CACCCCCACACACCCCCCACACCCCCACACACCCCCCACACCACACATCC CTCACACCCCCCCCACACCCCCCACACCACACATCCCTCACACCCCCCCA CACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCACACCCC CACACACCCCCCACACCACACATCCCTCACACCCCCACACCCCCACACAC CCCCCACACCACACATCCCTCACACCCCCCACACCCCCACACACCCCCCA CACCACACATCCCTCACACCCCCCACACCCCCACACACCCCCCACACCAC ACATCCCTCACACCCCCCACACCCCCACACACCCCCCACACCACACATCC CTCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCACA CCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCA CACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACACC CCCCACACCACACATCCCCCACACCACACATCCCCCACACCCCCCACACC CCCCCACACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCT CACACCCCCCACACCCCCCACACACCCCCCACACCCCCACACACCCCCCA CACCACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCAC ACATCCCCCACACCCCCCACACCCCCACACCACACATCCCCCACACCACA CATCCCTCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCC CCACACCACACATCCCCCACACCCCCCACACCCCCCACACACCCCCCACA CCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCCACACCCCC CACACCACACATCCCTCACACCCCCCACACCCCCACACACCCCCCACACC ACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACAT CCCCCACACCACACATCCCCCACACCCCCCACACCCCCCACACACCCCCC ACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCACACCC CCACACACCCCCCCACACCACACATCCCCCACACCCCCACACCCCCACAC ACCCCCCCACACCACACATCCCCCACACCCCCACACCCCCACACACCCCC CACACCACACACCCCCCACACCCCCACACACCCCCCACACCCCCACACAC CCCCCACACCACACATCCCTCACACCCCCCCACACCCCCCACACCACACA TCCCTCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCCC ACACCACACATCCCTCACACCCCCCACACCCCCACACACCCCCCACACCA CACATCCCCCACACCCCCCACACCCCCCACACACCCCCCACACCACACAT CCCTCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCA CACCCCCCACACCCCCCACACACCCCCCACACCCCCACACACCCCCCACA CCACACATCCCTCACACCCCCCCACACCCCCACACACCCCCCACACCACA CATCCCCCACACCCCCCACACCCCCCACACACCCCCCACACCACACATCC CCCACACCCCCCACACCCCCCACACACCCCCCACACCACACATCCCCCAC ACCACACATCCCTCACACCCCCCACACCCCCACACACCCCCCACACCACA CATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCCCCACACAC CCCCCACACCACACATCCCTCACACCCCCCACACCCCCACACACCCCCCA CACCACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCCC CACACACCCCCCACACCACACATCCCCCACACCCCCACACACCCCCCACA CCACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCCCCA CACACCCCCCACACCACACATCCCTCACACCCCCCCACACCCCCCACACC ACACATCCCTCACACCACACATCCCTCACACCCCCCACACCCCCACACAC CCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACACCCCCCA CACCCCCCACACACCCCCCACACCCCCACACACCCCCCACACCACACATC CCCCACACCCCCCACACCCCCCACACCACACATCCCTCACACCCCCCACA CCCCCACACACCACACATCCCTCACACCCCCCACACCACACATCCCCCAC ACC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0113 a0001c0007t0002g0113	1	116	0.0086	2752	c.207 others(2771): Show c.2073+1537_2073+1538insCCCACACACCCCCCACACCACACATC CCTCACACCACACATCCCTCACACCCCCCACACCCCCACACACCCCCCAC ACCACACATCCCTCACACCCCCCACACCCCCACACACCCCCCACACCACA CATCCCTCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCC CACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACA CCCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCC CACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCACACACC CCCCACACCACACATCCCTCACACCCCCCAACACCCCCACACACCCCCCA CACCACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCAC ACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCCCCACACA CCCCCCACACCACACATCCCTCACACCCCCCCCACACCCCCCACACCACA CATCCCTCACACCCCCCCACACCCCCACACACCCCCCACACCACACATCC CTCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACA CCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCA CACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCACACCCC CACACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCACACA CCCCCCACACCACACATCCCTCACACCCCCACACACCCCCCACACCACAC ATCCCTCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCT CACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACC CCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCACACAT CCCCCACACCCCCCACACCCCCCCACACACCCCCCACACCCCCACACACC CCCCACACCACACATCCCTCACACCCCCCACACCCCCCACACACCCCCCA CACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCC CACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACC ACACATCCCCCACACCACACATCCCTCACACCCCCCACACCCCCACACAC CCCCCACACCACACATCCCCCACACCACACATCCCCCACACCCCCCACAC CCCCCACACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCT CACACCCCCCCACACCCCCCACACCACACATCCCTCACACCCCCCACACC CCCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACA CACCCCCCACACCACACATCCCCCACACCACACATCCCCCACACCCCCCA CACCCCCCACACACCCCCCACACCCCCACACACCCCCCACACCACACATC CCTCACACCCCCCACACCCCCACACACCCCCCCACACCACACATCCCCCA CACCCCCACACCCCCACACACCCCCCCACACCACACATCCCCCACACCCC CACACCCCCACACACCCCCCACACCACACACCCCCCACACCCCCACACAC CCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCC ACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCACACACCC CCCACACCACACATCCCCCACACCACACATCCCTCACACCCCCCACACCC CCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCACA CACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCACACACCCC CCACACCACACATCCCCCACACCCCCCACACCCCCCACACACCCCCCACA CCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCCACACCCCC ACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCACACA CCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCACACACCCCC CACACCACACATCCCCCACACCACACATCCCTCACACCCCCCACACCCCC ACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACAC CCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCA CACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCC CACACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACA CCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCA CACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACC CCCCCACACCCCCCACACCACACATCCCTCACACCACACATCCCTCACAC CCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCA CACCCCCACACACCCCCCACACCCCCCACACACCCCCCACACCCCCACAC ACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCCACACCACAC ATCCCTCACACCCCCCACACCCCCACACACCACACATCCCTCACACCCCC CACACCACACATCCCCCACACCCCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
FOXP1_chr3_70949708_71588728	71435687	G G	GGGACGGA others(2745): Show GGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGA GGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGG GAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGAAGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAA GGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGG GAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGAAGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAA GGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGAA GGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGG GAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGA GGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGG GAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACAGAGGGAGGGAAGGA GGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGA GGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGAAGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGA GGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGG GAGGGAAGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGAAGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAA GGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAAGGAGGCACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGGAGGGAAGGAGAGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAGGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGG GAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0067 a0001c0001t0007g0067	1	96	0.0104	2752	c.-16 others(2773): Show c.-168+57738_-168+57739insGTCCCTCCTTCCCTCCCTCCGTCC CTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCTCTCCTTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCTTCCCTCCCTCCGTGCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCT CCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCTTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCT CCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCC CTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT CCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCTGTCCCT TCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCC CTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCT TCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCC CTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCC CTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCTTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCT CCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCC CTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCT TCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCT TCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT CCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCT CCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCC CTCCGTCCCTTCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCC CTCCGTCCCTTCTTCCCTCCCTCCGTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435687	G G	GGGACGGA others(2745): Show GGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAAGGGACGGGAGGGAGGGAAGGAGGGAACGGAGGAGGGAGGAAGG GACGGCGGGAAGGGAGGAAGGGACGGAAGGGAGGGAAGGAGGGGATGGAG GGGAGGGAGGAAGGGACCGGCAGGGAGGGAGGAGGCGGACGGAGGGAGGG AAGGAGGGGACGGAGGGAGGGAGGAGGGACGGGAGGGAGGGAGGAACGGA GGAGAGGGACGGAGGAGGGAAGGAGGGACGGAGGAGGGAAGGAGGACGGA GGGAGGGAAGGAGGAGGACGGGAGGGAGGAAGGGACGGAGGGAGGGAGGA AGGGACGGAGGGAGGGAAGGAGGGAAGGGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGGAAGGGACGGAGGGAGGGAAGG AGGGAAGGAGGGAGGGAGGGAAGGGACGAGGGAGGGAGGAAGGGACGGAG GGAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGAGGGAAGGA GGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGAGGAAG GGACGGAGGGAGGGAAGAAGGGACGGAGGGGAGGGAAGGAGGGAAGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGA GGAGGGACGGAGGAGGGAGGAGGAGGAGGGACGGAGGGAGGGAGGAAGGG ACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAG GGAGGAGGGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGG ACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGAAGGGACGGAGGGAGG GAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGGAGGGAGGAAGGG ACGGAGGGAGGGAAGGAGGGGAAGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAGGGAAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGGAAGGGACGGAG GGAGGGGAAGGAGGGACGGAGGGAGGAAGGAGGGACGGAGGGAGGGAAGG AGGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAG GGAGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGAAGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGAGGGACGGAGGGAGGGAAGGAG GAGGGACGGAGGGAGGGGAAGGAGGGACGGAGGGAGGGGAGGGAAGGGAG GGACGGAGGGAGGGAAGGAGGGAACGGAGGGAGGAAGGAGGGACGGAGGG AGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAG GGACGGAGGGAGGGAAGGAGGGGAAGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAGAAGGACGGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAG GAGGGAAGGGAGGGAGGGAAGGAAGGGACGGGAGGGAGGGAGGAAGGGAC GGAGGGAAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAAGGAGGGAAGGAGGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGG ACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAG GGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGG AAGGAGGGAGGGAGGAAGGGACGGAGGGGAGGGAGGAAGGGACGGGAGGG AGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAG GGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGG GAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAA GGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGGAGGGATGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGG GAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGA GGCACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGA GGGATGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGG GAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGA GGGAAGGAGAGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGG GAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0074 a0001c0001t0053g0074	1	96	0.0104	2752	c.-16 others(2773): Show c.-168+57738_-168+57739insGTCCCTTCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCTCTCCTTCCCTCCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCC CTCCGTCCCTCCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTCCTTCCCTCCCTCCGTGCCTCCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCT CCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCC CTCCGTCCCTTCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCATCCCTCCCTCCCTCC CTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCT CCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCCTCCGTCCCTCCTTCCCTC CCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCC TCCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCCGTCCCTTCCTCCCT CCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTC CCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCC TCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTC CCTTCCTCCCTCCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCC CTCCCTCCGTCCCTCCTTCCCTTCCCTCCGTCCCTTCCTCCCTCCCTCCC GTCCCTTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCGTCCCTTC TTCCCTCCCTCCCGTCCTTCTCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCTTCCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCC TTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCTCC CTCCGTTCCCTCCTTCCCTCCCTCCGTCCCTCCCTTCCCTCCCCTCCCTC CGTCCCTCCTTCCCCTCCCTCCGTCCCTCCTCCTTCCCTCCCTCCGTCCC TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCC CTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT CCTTCCCTCCCTCCGTCCCTTCTTCCTCCCTCCGTCCCTTCCTCCCTCCC TCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTC CTTCCTCCCTCCGTCCCTCCTTCCCCTCCCTCCGTCCCTTCCTTCCCTCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCTTCCCTCCCTCCGTCCCTTTCCCTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCTTCCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCCTCCGT CCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCTCCC TCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTC CCTCCTTCCCTCCCTCCGTCCCCTCCTCCCTCCCTCCGTCCCTCCTTCCC TCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTC CCTCCTCCTCCTCCCTCCTCCGTCCCTCCTCCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCC CCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCTCCCTCCGTCCCT CCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCTCCGTCCCTC CCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCC TCGTCCCTTCCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTT CCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTT CCTCCCTCCCGTCCTCCTCCTTCCCTCCCTCCGTCCTCCTTCCCTCCTCC GTCCCTCCTTCCCTCCTCCGTCCCTCTCCTCCGTTCCTCCCTCCCTCCCG TCCCTCCTCCCTCCCTCCGTCCCCTCCTTCCCTCCCTCCGTCCGCCTCCT CCCTCCCTGCCGGTCCCTTCCTCCCTCCCCTCCATCCCCTCCTTCCCTCC CTTCCGTCCCTTCCTCCCTTCCCGCCGTCCCTTCCTCCCTCCTCCGTTCC CTCCTTCCCTCCCTCCCGTCCCTTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTCCTTCCCTCCCTCCGTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63450548	A A	ACTGCTGG others(2745): Show ACTGCTGGGGGGTGGGGGGAAGACCTGCTGTGGGGAGGGGGAAGACCTGC TGTGGGGTGGAAGACCTGCTGTGGGGTAGGGGAAGACCTGCTGTGGGGTG GGGGGGAAGACCTGCTGTGGGGTGGGGGAAGACCTGCTGTGGGGTGGGGG AAGACCTGCTGTGGGGTGGGGGGGAAGACCTGCTGTGGGGTGGAAGACCT GCTGTGGGGTGGGGGAAGACCTGCTGTGGGGTGGGGGGGAAGACCTGCTG TGGGGTGGGGGAAGACCTGCTGTGGGGTGGGGGAAGACTGCTGGGGGGTG GGGGAAGACTGCTGGGGGGTGGGGGAAGACCTGCTGGGGGGTGGGGGAAG ACCTGCTGTGGGGTGGGGGAAGACCTGCTGTAGGGTGGGGGAAGACTGCT GGGGGGTGGGGGGAAGACCTGCTGGGGGGTGGGGGAAGACCTGCTGTAGG GTGGGGGAAGACTGCTGGGGGGTGGGGGGGAAGACCTGCTGTGGGGTGGG GGAAGACCTGCTGTGGGGTGGGGGAAGACCTGCTGTGGGGTGGGGGAAGA CCTGCTGTAGGGTGGGGGAAGACTGCTGGGGGGTGGGGGGAAGACCTGCT GGGGGGTGGAGGAAGACCTGCTGGGGGGTGTGGGAAGACCTGCTGGGGGG AGGGGGAAGACCTGCTGTGGGGTGTGGGAAGACCTGCTGTAGGGTGGGGG AAGACTGCTGGGGGGTGGGGGGAAGACCTGCTGTGGGGTGGGGGAAGACC TGCTGTAGGGTGGGGGAAGACTGCTGGGGGGTGGGGGGGAAGACCTGCTG TGGGGTGGGGGAAGACCTGCTGTGGGGTGGGGGAAGACCTGCTGTAGGGT GGGGGAAGACCTGCTGTGGGGTGGGGGAAGACCTGCTGTGGGGTGGGGGA AGACCTGCTGTAGGGTGGGGGAAGACTGCTGGGGGGTGGGGGGAAGACCT GCTGGGGTGAGGGGGAAGACCTGCTGTGGGGTGTGGGAAGACCTGCTGTA GGGTGGGGGAAGACTGCTGGGGGGTGTGGGAAGACCTGCTGTAGGGTGGG GGAAGACTGCTGGGGGGTGGGGGGAAGACCTGCTGGGGGGTGGGGGAAGA CCTGCTGGGGGGTGTGGGAAGACCTGCTGGGGGGAGGGGGAAGACCTGCT GTGAGGTGTGGGAAGACCTGCTGTAGGGTGGGGGAAGACTGCTGGGGGGT GGGGGGAAGACCTGCTGGGGGGTGGGGGAAGACCTGCTGGGGGGAGGGGG AAGACCTGCTGGGGGGAGGGGGAAGACCTGCTGTGAGGTGTGGGAAGACC TGCTGTAGGGTGGGGGAAGACTGCTGGGGGGTGGGGGGAAGACCTGCTGG GGGGTGGGGGAAGACCTGCTGGGGGGTGGGGGAAGACCTGCTGGGGGGAG GGGGAAGACCTGCTGTGGGGTGGGGGAAGACCTGCTGTGGGGTGGGGGGG AAGACCTGCTGTGGGGTGGGGGAAGACCTGCTGTGGGGTGGGGGAAGACC TGCTGTGGGGTGGGGGGGAAGACCTGCTGTGGGGTGGAAGACCTGCTGTG GGGTGGGGGAAGACCTGCTGTGGGGTGGGGGGGAAGACCTGCTGTGGGGT GGGGGAAGACCTGCTGTGGGGTGGGGGAAGACTGCTGGGGGGTGGGGGAA GACTGCTGGGGGGTGGGGGAAGACCTGCTGTGGGGTGGGGGAAGACCTGC TGTGGGGTGGGGGAAGACCTGCTGTAGGGTGGGGGAAGACTGCTGGGGGG TGGGGGGAAGACCTGCTGGGGGGTGGGGGAAGACCTGCTGTAGGGTGGGG GAAGACTGCTGGGGGGTGGGGGGGAAGACCTGCTGTGGGGTGGGGGAAGA CCTGCTGTGGGGTGGGGGAAGACCTGCTGTAGGGTGGGGGAAGACTGCTG GGGGGTGGGGGGAAGACCTGCTGGGGGGTGGGGGAAGACCTGCTGGGGGG TGTGGGAAGACCTGCTGGGGGGAGGGGGAAGACCTGCTGTGGGGTGTGGG AAGACCTGCTGTAGGGTGGGGGAAGACTGCTGGGGGGTGGGGGGAAGACC TGCTGTGGGGTGGGGGAAGACCTGCTGTAGGGTGGGGGAAGACTGCTGGG GGGTGGGGGGGAAGACCTGCTGTGGGGTGGGGGAAGACCTGCTGTGGGGT GGGGGAAGACCTGCTGTAGGGTGGGGGAAGACCTGCTGTGGGGTGGGGGA AGACCTGCTGTGGGGTGGGGGAAGACCTGCTGTAGGGTGGGGGAAGACTG CTGGGGGGTGGGGGGAAGACCTGCTGGGGTGAGGGGGAAGACCTGCTGTG GGGTGTGGGAAGACCTGCTGTAGGGTGGGGGAAGACTGCTGGGGGGTGTG GGAAGACCTGCTGTAGGGTGGGGGAAGACTGCTGGGGGGTGGGGGGAAGA CCTGCTGGGGGGTGGGGGAAGACCTGCTGGGGGGTGTGGGAAGACCTGCT GGGGGGAGGGGGAAGACCTGCTGTGAGGTGTGGGAAGACCTGCTGTAGGG TGGGGGAAGACTGCTGGGGGGTGGGGGGAAGACCTGCTGGGGGGTGGGGG AAGACCTGCTGGGGGGAGGGGGAAGACCTGCTGGGGGGTGGGGGAAGACC TGCTGGGGGGGTGGGGGGAAGACCTGCTGGGGGTGGGGGAAGACCTGCTG GGGGTGGGGGAAGACCTGCTGGGGGTGGGGGAAGACCTGCTGGGGGGTGG GGGAAGACCTGCTGGGGGGGTGGGGGGAAGACCTGCTGGGGGTGGGGGAA GAC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0278 a0001c0003t0003g0278	1	330	0.0030	2752	c.297 others(2769): Show c.297-3712_297-3711insGTCTTCCCCCACCCCCAGCAGGTCTTCC CCCCACCCCCCCAGCAGGTCTTCCCCCACCCCCCAGCAGGTCTTCCCCCA CCCCCAGCAGGTCTTCCCCCACCCCCAGCAGGTCTTCCCCCACCCCCAGC AGGTCTTCCCCCCACCCCCCCAGCAGGTCTTCCCCCACCCCCCAGCAGGT CTTCCCCCTCCCCCCAGCAGGTCTTCCCCCACCCCCCAGCAGGTCTTCCC CCCACCCCCCAGCAGTCTTCCCCCACCCTACAGCAGGTCTTCCCACACCT CACAGCAGGTCTTCCCCCTCCCCCCAGCAGGTCTTCCCACACCCCCCAGC AGGTCTTCCCCCACCCCCCAGCAGGTCTTCCCCCCACCCCCCAGCAGTCT TCCCCCACCCTACAGCAGGTCTTCCCACACCCCCCAGCAGTCTTCCCCCA CCCTACAGCAGGTCTTCCCACACCCCACAGCAGGTCTTCCCCCTCACCCC AGCAGGTCTTCCCCCCACCCCCCAGCAGTCTTCCCCCACCCTACAGCAGG TCTTCCCCCACCCCACAGCAGGTCTTCCCCCACCCCACAGCAGGTCTTCC CCCACCCTACAGCAGGTCTTCCCCCACCCCACAGCAGGTCTTCCCCCACC CCACAGCAGGTCTTCCCCCCCACCCCCCAGCAGTCTTCCCCCACCCTACA GCAGGTCTTCCCCCACCCCACAGCAGGTCTTCCCCCCACCCCCCAGCAGT CTTCCCCCACCCTACAGCAGGTCTTCCCACACCCCACAGCAGGTCTTCCC CCTCCCCCCAGCAGGTCTTCCCACACCCCCCAGCAGGTCTTCCCCCACCC CCCAGCAGGTCTTCCCCCCACCCCCCAGCAGTCTTCCCCCACCCTACAGC AGGTCTTCCCCCACCCCACAGCAGGTCTTCCCCCACCCCACAGCAGGTCT TCCCCCCCACCCCCCAGCAGTCTTCCCCCACCCTACAGCAGGTCTTCCCC CACCCCCCAGCAGGTCTTCCCCCCACCCCCCAGCAGTCTTCCCCCACCCT ACAGCAGGTCTTCCCCCACCCCACAGCAGGTCTTCCCCCACCCCACAGCA GGTCTTCCCCCACCCCCCAGCAGTCTTCCCCCACCCCCCAGCAGTCTTCC CCCACCCCACAGCAGGTCTTCCCCCACCCCACAGCAGGTCTTCCCCCCCA CCCCACAGCAGGTCTTCCCCCACCCCACAGCAGGTCTTCCACCCCACAGC AGGTCTTCCCCCCCACCCCACAGCAGGTCTTCCCCCACCCCACAGCAGGT CTTCCCCCACCCCACAGCAGGTCTTCCCCCCCACCCCACAGCAGGTCTTC CCCCACCCCACAGCAGGTCTTCCCCCTCCCCCCAGCAGGTCTTCCCCCAC CCCCCAGCAGGTCTTCCCCCACCCCCCAGCAGGTCTTCCCCCCACCCCCC AGCAGTCTTCCCCCACCCTACAGCAGGTCTTCCCACACCTCACAGCAGGT CTTCCCCCTCCCCCCAGCAGGTCTTCCCCCTCCCCCCAGCAGGTCTTCCC CCACCCCCCAGCAGGTCTTCCCCCCACCCCCCAGCAGTCTTCCCCCACCC TACAGCAGGTCTTCCCACACCTCACAGCAGGTCTTCCCCCTCCCCCCAGC AGGTCTTCCCACACCCCCCAGCAGGTCTTCCCCCACCCCCCAGCAGGTCT TCCCCCCACCCCCCAGCAGTCTTCCCCCACCCTACAGCAGGTCTTCCCAC ACCCCCCAGCAGTCTTCCCCCACCCTACAGCAGGTCTTCCCACACCCCAC AGCAGGTCTTCCCCCTCACCCCAGCAGGTCTTCCCCCCACCCCCCAGCAG TCTTCCCCCACCCTACAGCAGGTCTTCCCCCACCCCACAGCAGGTCTTCC CCCACCCCACAGCAGGTCTTCCCCCACCCTACAGCAGGTCTTCCCCCACC CCACAGCAGGTCTTCCCCCACCCCACAGCAGGTCTTCCCCCCCACCCCCC AGCAGTCTTCCCCCACCCTACAGCAGGTCTTCCCCCACCCCACAGCAGGT CTTCCCCCCACCCCCCAGCAGTCTTCCCCCACCCTACAGCAGGTCTTCCC ACACCCCACAGCAGGTCTTCCCCCTCCCCCCAGCAGGTCTTCCCACACCC CCCAGCAGGTCTTCCTCCACCCCCCAGCAGGTCTTCCCCCCACCCCCCAG CAGTCTTCCCCCACCCTACAGCAGGTCTTCCCCCACCCCACAGCAGGTCT TCCCCCACCCCACAGCAGGTCTTCCCCCACCCCACAGCAGGTCTTCCCCC CCACCCCCCAGCAGTCTTCCCCCACCCTACAGCAGGTCTTCCCCCACCCC CCAGCAGGTCTTCCCCCCACCCCCCAGCAGTCTTCCCCCACCCTACAGCA GGTCTTCCCCCACCCCACAGCAGGTCTTCCCCCACCCCCCAGCAGGTCTT CCCCCACCCCCCAGCAGTCTTCCCCCACCCCCCAGCAGTCTTCCCCCACC CCACAGCAGGTCTTCCCCCACCCCACAGCAGGTCTTCCCCCCCACCCCAC AGCAGGTCTTCCCCCACCCCACAGCAGGTCTTCCACCCCACAGCAGGTCT TCCCCCCCACCCCACAGCAGGTCTTCCCCCACCCCACAGCAGGTCTTCCC CCACCCCACAGCAGGTCTTCCCCCCCACCCCACAGCAGGTCTTCCCCTAC CCCACAGCAGGTCTTCCACCCCACAGCAGGTCTTCCCCCTCCCCACAGCA GGTCTTCCCCCCACCCCCCAGCAG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	1/16			chr20	TogoVar
LMF1_chr16_848634_975984	859712	C C	CGGGTGTG others(2745): Show CGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATGG GTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGT GAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAG TGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTGA TGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTC TCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGAGACGGGT GTGCAGTGATGTCTCGGGACGGGTGTGCACTGATGTCACGGGACGGGTGT GCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTGCAGTGG TGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTC TCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTCTCGGG ACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGACTGGTGTCTCGGGACG GTTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTCGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGT GGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTG TCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACG GGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGA TGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGG TGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTG CAGTGATGTCACGGGATGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCACGGGACGGGTGTGCTGTGGTGTCTCGGGACGGGTGTGCAGTGGTGT CACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCA CGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGATGTCACGG GACGGGTGTGAGTGGTGTCTCGAGACGGGTGTGCAGTGATGTCTCGGGAC GGGTGTGCAGTGATGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GCAGTGATGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGA GTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGG TGTCACGGGACGGGTGTGCAGTGGTCTCGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGTTGTCACGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGATGTCACGGGACGGGT GTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGT GAGTGATGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT CGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGATGTCTCGGGA CGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGG TGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGT GCAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAG TGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGT GTCACGGGAGGTGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCT CGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGG ACGGGTGCGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGG GTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGGTGGGTGTGAGTGGT GTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCT CGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGCAGTGGTGTCTCGG GAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0109 a0001c0005t0001g0109	1	294	0.0034	2752	c.153 others(2771): Show c.1530-5007_1530-5006insATCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCG AGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCGTGAC ACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTC ACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCACAC CCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGT CCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCG AGACACCACTCGCACACCTCCCGTGACACCACTCGCACCCGTCCCGTGAC ACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCA CTCGCACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTG CACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCACA CCCGTCCCGTGACACCACTCACACCCGTCCCGAGACATCACTCACACCCG TCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCC CGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTG ACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGTGACACGACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGTGACATCACTCACACCCGTCCCGTGACACCACTG CACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACATCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACAACACTGCACACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTC CCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCG AGACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCAC TGCACACCCGTCCCGTGACATCACTGCACACCCGTCCCGAGACACCACTC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGTGACATCACTGCACACCCGTCCCGAGACATCACTGCACACC CGTCTCGAGACACCACTCACACCCGTCCCGTGACATCACTCACACCCGTC CCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCC GTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGA GACACCACAGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACT CACACCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACA CCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTGCACACCC ATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCC CGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCG AGACACCACTGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGA CACCACGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGTGACACGACTCACACCCGTCCCGAGACACCAC TCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTGCACAACCGTCCCGAGACACCAGTCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACCACTGCACACCCGTC CCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGT GACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGAC ATCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACATCAGTG CACACCCGTCCCGAGACATCACTGCACACCCGTCTCGAGACACCACTCAC ACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCACACCC GTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTC CCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGT GACACCACTCACACCCGTCCCGTGACATCACTGCACACCCATCCCGTGAC ACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCA CTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTC ACACCCATCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACA CCCGTCCCGAGACACCACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
NBEAL1_chr2_203009875_203230194	203218165	T T	TAAGAGTT others(2745): Show TAAGAGTTAGGGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCG TCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCC TCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCC CTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCA TGTCGAGCCAAAGCTGGACGGTACTGCTGCCATCTCGGCTCACTGCAACC TCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCGATTGCAGG CGCGCGCCGCCACGCCTGACTGGTTTTCGTTTTTTTTTGGTGGAGATGGG GTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATC CGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGATGGAGTCTCGTTC ACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGC TCGCTACAACCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGAGCCGAG ATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGAGGAGCGTCT CTGCTTGGCCACCCATCGTCTGGGATATGAGGAGCCCCTCTGCCTGGCTG CCCAGTGTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTAG GAAGCGAGAAGCGCCTCTTCCCCGCCGCCATCCCATCTAGGAAGTGAGGA GCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCACCTCTGCC CCACCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCTGGGCCGCAACCCT GTCTGGGAGGTGAGGAGTGTCTCTGCCCGGCCGCTCCGTCTGAGAAGTGA GGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTC CGTCTGGCAACCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAG CCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGC GGGGGGGGGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGG GGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCG GCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGG AGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCTGCCTGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGAACAGTCCCCCGCCCGGCCAGCCGCCCTATCCAGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC TGGCCAGCCGCCCCGTCCGGGAGGGCGGTGGGGGGGTCAGCCCCCCTCCC GGCCAGCCGCCCCATCTGGGAGGTGAGGGGCACTTCTGCCGGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCTGGGAGG TGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGCGGTTTTG TGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGGT TGCGGGGTCTGTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTTGTT CTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACCT TATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTT AAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAA GGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAAGTACCCA GGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCA GAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCC TATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAAT AAAAATAAAAAATAAAAAATAAAAAATAATAAAAAAAAAAAAAAAAAAAA AAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0072 a0002c0002t0021g0072	1	292	0.0034	2752	c.82 others(2761): Show c.820_*821insGGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCT CCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGT CTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCT CTCATGTCGAGCCAAAGCTGGACGGTACTGCTGCCATCTCGGCTCACTGC AACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCGATTG CAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGTTTTTTTTTGGTGGAGA TGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGT GATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGATGGAGTCTC GTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCT CGGCTCGCTACAACCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGAGC CGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGAGGAGC GTCTCTGCTTGGCCACCCATCGTCTGGGATATGAGGAGCCCCTCTGCCTG GCTGCCCAGTGTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCAT CTAGGAAGCGAGAAGCGCCTCTTCCCCGCCGCCATCCCATCTAGGAAGTG AGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCACCTC TGCCCCACCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCTGGGCCGCAA CCCTGTCTGGGAGGTGAGGAGTGTCTCTGCCCGGCCGCTCCGTCTGAGAA GTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCC CCTCCGTCTGGCAACCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCG GCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGCGGGGGGGGGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGT GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCG CCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCC TGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCTGCC TGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGAACAGTCCCCCGCCCGGCCAGCCGCCCTATCCAGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCTGGCCAGCCGCCCCGTCCGGGAGGGCGGTGGGGGGGTCAGCCCCCC TCCCGGCCAGCCGCCCCATCTGGGAGGTGAGGGGCACTTCTGCCGGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCTGG GAGGTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGCGGT TTTGTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGA TGGTTGCGGGGTCTGTGTGGATAGAAGTAGACATGGGAGACTTTTCATTT TGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTG ACCTTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAG GGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCT TGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAAGTA CCCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAA ACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATT GTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGAT CAATAAAAATAAAAAATAAAAAATAAAAAATAATAAAAAAAAAAAAAAAA AAAAAAAAAGAGTTAG	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	56/56	821	INFO_REALIGN_3_PRIME	chr2	TogoVar
NCEH1_chr3_172625249_172716067	172685023	T T	TAGCGGCT others(2745): Show TAGCGGCTTACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTCAATTCTTTTTTTTTTTTTTTTATTGATCATTCTTGGGTGTTTCTCGC AGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCA GATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGC GGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTAAGATTAGGGAGTGGTG ATGACTCTCAACGAGCATGCTGCCCTCAAGCATCTGTTCAACAAAGCACA TCTTGCACCGCCCTTAATCCATCTAACCCTGAGTGGACACAGCACATGTC TCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATCAACAGGATCCCAAG GCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCT ACTTCTATCCACACAGACCCAGCAACCATCCGATTTCTCAATTTTTTCCC CACCCTTCCCGCCTTTCTATTCCACAAAACCGCCATTGTCATCATGGCCC ATCCCCAATGAGCCGCTGGGCACACCTCCCAGACGGGGTCGTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCCGGCAGAAGTGCCCCTC ACCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCTCCGC CCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGATAGGGCGGCTGGC CGGGCGGGGGGCTGTTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGATCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCAGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC AGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCG GGCATAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACC TCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCT CCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGG CCGACCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGA CGGGGTGGTTGCCAGACGGAGGGGCTCCTCACTTCTCAGACGGGGCGGTT GCCAGGCAGAGGGTTTCCTCACTTCTCAGACGGAGCGGCCGGGCAGAGAC ACTCCTCACCTCCGAGACAGGGTTGCGGCCCAGCAGAGGCGCTCCTCACA TCCCAGACAGGGCGGCGGGGCAGAGGTGCTCCCCACATCTCAGACGATGG GCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCGGGGA AGAGGCGCTTCTCGCCTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTC CTCACTTTCCACACTGGGCAGCCAGGCAGAGGGGCTCCTCATATCCCAGA CGATGGGTGGCCAAGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGG CCGGGCAGAGGCTGCAATCTCGGCTCTCCGGGAGGCCAAGGCAGGCGGCT GGGAGGTGGCTGCAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGG CACCATTGAGCACTGAGTGAACGAGACTCCATCTGCAATCCCGGCACCTC GGGAGGCCGAGGCTGGCGGATCACTCGCGGCCAGGAGCTGGAGACCAGCC CGGCCAACACAGCGAAACCCCATCTCCACCAAAAAAAAAACGAAAACCAG TCAGGCGTGGCGGCGCGCGCCTGCAATCGCAGGCACTCGGCAGGCTGAGG CAGGAGAATCAGGCAGGGAGGTCGCAGTGAGCCGAGATGGCAGCAGTACC GTCCAGCTTTGGCTCGGCATGAGAGGGAGAGGGAGACGGGAGAGGGAGAG GGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGA GGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGCAGA GGGAGACGGGAGAGGGTGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAG AGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	332	0.0030	2752	c.138 others(2771): Show c.138+25823_138+25824insGCTCTCCCGTCTCCCTCTCCCTCTCC CGTCTCCCTCACCCTCTCCCGTCTCCCTCTGCCTCTCCCGTCTCCCTCTC CCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTC CCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCT CCCTCTCATGCCGAGCCAAAGCTGGACGGTACTGCTGCCATCTCGGCTCA CTGCGACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCG ATTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGTTTTTTTTTTGGT GGAGATGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTGGCCG CGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGATGGA GTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGT GATCTCGGCTCGCTGCAGCCACCTCCCAGCCGCCTGCCTTGGCCTCCCGG AGAGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGA GGAGCGTCTCTGCTTGGCCACCCATCGTCTGGGATATGAGGAGCCCCTCT GCCTGGCTGCCCAGTGTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCAT CCCATCTAGGAGGCGAGAAGCGCCTCTTCCCCGCCGCCATCCCATCTAGG AAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGC ACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCTGGGC CGCAACCCTGTCTCGGAGGTGAGGAGTGTCTCTGCCCGGCCGCTCCGTCT GAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAG GAGCCCCTCCGTCTGGCAACCACCCCGTCTGGGAAGTGAGGAGCGTCTCC GCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGCGGGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTG AGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGC CCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCT GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTATGCCCGGCCAGCCGCCCCGCCCAGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGG GGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGATCAGCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCTGCCT GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGAACAGCCCCCCGCCCGGCCAGCCGCCCTATCCAGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCTGGCCAGCCGCCCCGTCCGGGAGGGCGGAGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCATCTGGGAGGTGAGGGGCACTTCTGCCGGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCTGGG AGGTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGCGGTT TTGTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGAT GGTTGCTGGGTCTGTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTT GTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGA CCTTATCCCCAACCCTGTGCTCTCTGAGACATGTGCTGTGTCCACTCAGG GTTAGATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTGAACAGATGCTT GAGGGCAGCATGCTCGTTGAGAGTCATCACCACTCCCTAATCTTAAGTAC CCAGGGACACAAACGCTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAA CCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTG TCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATC AATAAAAAAAAAAAAAAAAGAATTGAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGTGTAAGCCGCT	NCEH1	ENSG00000144959.11	transcript	ENST00000475381.7	protein_coding	1/4			chr3	TogoVar
SH2D4B_chr10_80532902_80651560	80627643	T T	TACAAAAT others(2745): Show TACAAAATTCCCGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCACGGTCT CCCTCTGATGCCGAGCCAAGGCTGGACGGTACTGCTGCCATCTCGGCTCA CTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCG ATTGCAGGCGCGCACCGCCACGCCTGACTGGTTTTCGTTTTTTTTTTGGT GGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAGCCG CGAGTGATCCGCCAGCCTCAGCCTCCCAAGGTGCCGGGATTGCAGATGGA GTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGT GATCTCGGCTCGCTGCAACCACCTCCCAGCCGCCTGCCTTGGCCTCCCGG AGAGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGA GGAGCGTCTCTGCTTGGCCACCCATCGTCTGGGATGTGAGGAGCCCCTCT GCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCAT CCCATCTGGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCATCTAGG AAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGC ACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCTGGGC CGCAGCCCTGTCTGGGAGGTGGGGAGCGTCTCTGCCCGGCCGCTCCGTCT GAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAG GAGCCCCTCCGTCCGGCAACCACCCCGTCTGGGAAGTGAGGAGCGTCTCC GCCCAGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCTTCTGCCTGGCCAGCCGCCCCATCCGG GAGGGAGGCGGGGGGGGGGGGGGGTCGGCCAGCTGCCCCGTCCGGGAGGG AGGTGGGGGGGTAAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGACGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGTTCAGCCCCCCGCCC GGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTG GCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCGGGAGG GAGGTGGGGGGGTCATCCCCCCACCTGGCCAGCCGCCCCATCCGGGAGGG AGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGG GGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGTGGGGGGGGGGGGTCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTTCCGG CCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGACAGCCCCCCGCCCAGCCAGCCGCCCTATCCAGGAGGTGA GGGGCGCCTCTGCCCGGCCGTCCCTACTGGGAAGTGAGGAGCCCCTCTGC CTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCTGGGAG GTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGCGGTTTT GTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGG TTGCCGGGTCTCTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTTGT TCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACC TTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGT TAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGA AGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAAGTACCC AGGGACACAAACACTGCGGAAGGCCAAGGCCGCAGGGTCCTCTGCCTAGG AAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACT ATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAAT GATCAATAAAAAAAAAATAAATAAATTAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0300 a0002c0002t0002g0300	1	322	0.0031	2752	c.989 others(2769): Show c.989-6631_989-6630insGCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCCACGGTCTCCCTCTGATGCCGAGCCAAGGCTGGACGGTACTGCTGCCA TCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCG AGTGCCTGCGATTGCAGGCGCGCACCGCCACGCCTGACTGGTTTTCGTTT TTTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAG CTCCTAGCCGCGAGTGATCCGCCAGCCTCAGCCTCCCAAGGTGCCGGGAT TGCAGATGGAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGT GCAGTGGCGTGATCTCGGCTCGCTGCAACCACCTCCCAGCCGCCTGCCTT GGCCTCCCGGAGAGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTC TGGGAAGTGAGGAGCGTCTCTGCTTGGCCACCCATCGTCTGGGATGTGAG GAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCC CGGCCGCCATCCCATCTGGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCAT CCCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGA TGTGGGGAGCACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCC TCTGCTGGGCCGCAGCCCTGTCTGGGAGGTGGGGAGCGTCTCTGCCCGGC CGCTCCGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCT GAGAAGTGAGGAGCCCCTCCGTCCGGCAACCACCCCGTCTGGGAAGTGAG GAGCGTCTCCGCCCAGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCTTCTGCCTGGCCAGCCG CCCCATCCGGGAGGGAGGCGGGGGGGGGGGGGGGTCGGCCAGCTGCCCCG TCCGGGAGGGAGGTGGGGGGGTAAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGACGCCCCATCCAGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGTTCAG CCCCCCGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GCCCGGGAGGGAGGTGGGGGGGTCATCCCCCCACCTGGCCAGCCGCCCCA TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGTGGGGGG GGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCTTCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGACAGCCCCCCGCCCAGCCAGCCGCCCTATC CAGGAGGTGAGGGGCGCCTCTGCCCGGCCGTCCCTACTGGGAAGTGAGGA GCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCC CGTCTGGGAGGTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACAA TGGCGGTTTTGTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGA AATCGGATGGTTGCCGGGTCTCTGTGGATAGAAGTAGACATGGGAGACTT TTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTG ATCTGTGACCTTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTC CACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAAC AGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATC TTAAGTACCCAGGGACACAAACACTGCGGAAGGCCAAGGCCGCAGGGTCC TCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCT TCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAAC ACCCAAGAATGATCAATAAAAAAAAAATAAATAAATTAAAAAAAAAAAAA AAAAAAAAAAAAAACAAAATTCCC	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLC5A11_chr16_24840963_24916626	24872977	A A	AAAAAATA others(2745): Show AAAAAATACAAAAATTAGCCAGGCATGGTGGTAAGCACCTGTAATCCCAG CTACTCAGGAGGCTGAGGAGCCATGAGAATTGCTTGAGCCCGGGAGGCAG AGGATGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGTATGACAG AGCGAGACCCTGTCTCAATCATATATATATATATATATATATATATTTTT TTTTTTTTTTAAACCATATATATATTTTAAAATCACGTATATGATTCAGT GATTTTTTTTCTTCCTTTGCACACAAAACTATAATAATTGAGCTATTTCT GACTGGTACAAAATGTCAACGTTTTAGTTACAAAATAATGCTACTTTTGA CTCTTTGAAAAGCATTTTTTTGTGGGTTTTTTTTTTTTTTTTGACAGAGT TTTGCTCTTGCCCAGGCCGGAGTGCAATGGTGTGATCTCGGCTCACTGCA AACCTCTGCCTCCCGGTTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGT AGCTGGGATTACAGGCGCCCACCACCCCCCCCCAGCTAATTTTTGTATTT TTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACCCCT GACCTCGTGATCCACCCACCTCGTAATCCTCCCAAAGTGCTGGGATTACA GGCCTGAGCCATCATGCCTGGCCTGAAAAGCAGTTTTTAAAAAATCATCT ATGATCTCACTGGCAGCATTGTATCATTCATACTTTCTAACCTTTATTCT GTTCTAGATGTTCTATTGCACATGGCAAGATCACACAATATCACAGTGTT GTTCATAAAGCAATAACTGATTTTAGCTTTTTATTATGGAAATGTTAAAA AATACGCAAAGTAGGCTGGGCATGGTGGCTCATGTATGTAATCCCAGCAC TTTGGGAGGCCGAGTTGGGTGGATTGCTTCAGGCCAGGAGTTCGAGACCA GCCTGGGCAACATGGCAAAATCCCATCTCTACCAAAAATACAAAAATCAG CTGGGTGTGGTGATGCACACCTACAGTCTCAGATACTCAGGAGGCTGAGG CAGGAGGATTAGGATAACTTGAGACCGGTAGGTTGAGGCTACAGTGAGCC ATAATTGTGCCACAGCACTCCAGTCTGGGGGACAGAATGAGACCCTGTCT CAAACACACACACACACACACACACACACACACACACACACGTAGAAAAA GCTTAGGAGTCAGAAATCATGTTAAAAATCCTTCTGGCTGGATGCAGTGG CTCATGCCTGTAATCCCTGCACTTTGGGAGGCCATGCGGGGAGAATCACT TGAGTCCAGGATTTCAAGACCAGCCTGGGCAACAGAGCAAGACCTCATCT CTACTAAAGATTTTTTTTAAATTAGCCGGGCCTGGTGGCGAGTGCCTGTG GTCCCAGCTACTCCAGAGGATGAAGTGGGAGGAACACTTGAGCCCAGGAG TTGGAAGCTGCAGTGAGCTATGATCACGCCACTGCAGTCTAGCCTGAGTG ACAGAGAATAGTTCAATTCTGTATTAAGGGCAGGGATATATGGGTAAGTA ACCTCCCTTGGAGGTAATCCCAAAAGTCTGAAAGCAAGACCTTTGGTGAG CAGGGGGCCTGGGTCTGCTCCTGACCCCTGTGGCTAGCTCCCATGTAGAC ACAGCATCTGAGGTATAACAACACTGGACTGGAAATGAAGCTCTCCGAGT CAAGGCATCAAGAAAGTTATTGAGCACCTACTACAGGAAGGCATATATGA TGGTAGAGATGCAGGTGAGTAAATATTTAGGGTTGCCAGACATTCTCACC CGATGGCTTCCATGTTCTCTGGCAAACAGAAGATGATGTCATCAGCTGAG AGTGAGAAAGGAACTTGCTTTAGGTTGAGAAGATGCAAAGTTTGTTTTTG TTTTGTTTTGTTTTGTTTGTTTTGAGATGGAGTCTCACTCTGTCACCCAG GCTGCAGTGCAGTGGCACAATCTTGGCTCACTGCAGTCTCCACCTCCCAG GTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCG CCCACCACCACGCCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGGTTT CACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTACCAGCCAGATAG CCAGATGCAAAGAACTGAAATGGCTGCAGTAGTTGTTTGTAATAGAAAAA CCTGGGAACAACCACCATGTCCATTAATAAGGAACTGGACAGCCGGGGTA TACCATTTCATGCTGTGACAAGGGATGAAGTCCACAGAGGTATGCTGATC TCCAAGCTATTGTTAAATAAGAAAATAAAATCTCCTAGATCTAGACATCC TTTGGGCAATATCTTACACTTATACAAAGGAGAGGTTAACCCCATCCTAG ATAATAAATGCCAAAGTGTTGAGAAAAGTTCAAAAGCTACCCAATTTGTT TTTATTAGGACATGAAATAAACATTCAGAAAAGCAATAAGACACACACAC ACACACACAAAACAAACACAAAAGTGCAGCTTGACAAATTATTGTAAAAG GAACACCCACATCAAGACAGAAAACATAATGTCAGCCAGGTGCGGTAGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTG AGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCT ACT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	378	0.0027	2752	c.372 others(2767): Show c.372+779_372+780insGCATGGTGGTAAGCACCTGTAATCCCAGCT ACTCAGGAGGCTGAGGAGCCATGAGAATTGCTTGAGCCCGGGAGGCAGAG GATGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGTATGACAGAG CGAGACCCTGTCTCAATCATATATATATATATATATATATATATTTTTTT TTTTTTTTAAACCATATATATATTTTAAAATCACGTATATGATTCAGTGA TTTTTTTTCTTCCTTTGCACACAAAACTATAATAATTGAGCTATTTCTGA CTGGTACAAAATGTCAACGTTTTAGTTACAAAATAATGCTACTTTTGACT CTTTGAAAAGCATTTTTTTGTGGGTTTTTTTTTTTTTTTTGACAGAGTTT TGCTCTTGCCCAGGCCGGAGTGCAATGGTGTGATCTCGGCTCACTGCAAA CCTCTGCCTCCCGGTTTCAAGCAATTCTCCTGCCTCAGTCTCCCAAGTAG CTGGGATTACAGGCGCCCACCACCCCCCCCCAGCTAATTTTTGTATTTTT AGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACCCCTGA CCTCGTGATCCACCCACCTCGTAATCCTCCCAAAGTGCTGGGATTACAGG CCTGAGCCATCATGCCTGGCCTGAAAAGCAGTTTTTAAAAAATCATCTAT GATCTCACTGGCAGCATTGTATCATTCATACTTTCTAACCTTTATTCTGT TCTAGATGTTCTATTGCACATGGCAAGATCACACAATATCACAGTGTTGT TCATAAAGCAATAACTGATTTTAGCTTTTTATTATGGAAATGTTAAAAAA TACGCAAAGTAGGCTGGGCATGGTGGCTCATGTATGTAATCCCAGCACTT TGGGAGGCCGAGTTGGGTGGATTGCTTCAGGCCAGGAGTTCGAGACCAGC CTGGGCAACATGGCAAAATCCCATCTCTACCAAAAATACAAAAATCAGCT GGGTGTGGTGATGCACACCTACAGTCTCAGATACTCAGGAGGCTGAGGCA GGAGGATTAGGATAACTTGAGACCGGTAGGTTGAGGCTACAGTGAGCCAT AATTGTGCCACAGCACTCCAGTCTGGGGGACAGAATGAGACCCTGTCTCA AACACACACACACACACACACACACACACACACACACACGTAGAAAAAGC TTAGGAGTCAGAAATCATGTTAAAAATCCTTCTGGCTGGATGCAGTGGCT CATGCCTGTAATCCCTGCACTTTGGGAGGCCATGCGGGGAGAATCACTTG AGTCCAGGATTTCAAGACCAGCCTGGGCAACAGAGCAAGACCTCATCTCT ACTAAAGATTTTTTTTAAATTAGCCGGGCCTGGTGGCGAGTGCCTGTGGT CCCAGCTACTCCAGAGGATGAAGTGGGAGGAACACTTGAGCCCAGGAGTT GGAAGCTGCAGTGAGCTATGATCACGCCACTGCAGTCTAGCCTGAGTGAC AGAGAATAGTTCAATTCTGTATTAAGGGCAGGGATATATGGGTAAGTAAC CTCCCTTGGAGGTAATCCCAAAAGTCTGAAAGCAAGACCTTTGGTGAGCA GGGGGCCTGGGTCTGCTCCTGACCCCTGTGGCTAGCTCCCATGTAGACAC AGCATCTGAGGTATAACAACACTGGACTGGAAATGAAGCTCTCCGAGTCA AGGCATCAAGAAAGTTATTGAGCACCTACTACAGGAAGGCATATATGATG GTAGAGATGCAGGTGAGTAAATATTTAGGGTTGCCAGACATTCTCACCCG ATGGCTTCCATGTTCTCTGGCAAACAGAAGATGATGTCATCAGCTGAGAG TGAGAAAGGAACTTGCTTTAGGTTGAGAAGATGCAAAGTTTGTTTTTGTT TTGTTTTGTTTTGTTTGTTTTGAGATGGAGTCTCACTCTGTCACCCAGGC TGCAGTGCAGTGGCACAATCTTGGCTCACTGCAGTCTCCACCTCCCAGGT TCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCC CACCACCACGCCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGGTTTCA CCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGCGCCTCAGCCT CCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTACCAGCCAGATAGCC AGATGCAAAGAACTGAAATGGCTGCAGTAGTTGTTTGTAATAGAAAAACC TGGGAACAACCACCATGTCCATTAATAAGGAACTGGACAGCCGGGGTATA CCATTTCATGCTGTGACAAGGGATGAAGTCCACAGAGGTATGCTGATCTC CAAGCTATTGTTAAATAAGAAAATAAAATCTCCTAGATCTAGACATCCTT TGGGCAATATCTTACACTTATACAAAGGAGAGGTTAACCCCATCCTAGAT AATAAATGCCAAAGTGTTGAGAAAAGTTCAAAAGCTACCCAATTTGTTTT TATTAGGACATGAAATAAACATTCAGAAAAGCAATAAGACACACACACAC ACACACAAAACAAACACAAAAGTGCAGCTTGACAAATTATTGTAAAAGGA ACACCCACATCAAGACAGAAAACATAATGTCAGCCAGGTGCGGTAGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAG GTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTAC TAAAAATACAAAAATTAGCCAG	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
USP47_chr11_11836972_11966887	11926961	T T	TCAAGAGT others(2745): Show TCAAGAGTGTGTTGTTTATTTTTTTTTTTTATTTTTTATTTTATTTTATT TTATTTTTTTTTATTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGG GGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAA CAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTT CCGCAGCGTTTGTGTCCCTGGGTACTTAAGATTAGGGAGTGGTGATGACT CTCAACGAGCATGCTGCCCTCAAGCATCTGTTCAACAAAGCACATCTTGC ACCGCCCTTAATCCATCTAACCCTGAGTGGACACAGCACATGTCTCAGAG AGCACAGGGTTGGGGATAAGGTCACAGATCAACAGGATCCCAAGGCAGAA GAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCT ATCCACACAGACCCAGCAACCATCCGATTTCTCAATTTTTTCCCCACCCT TCCCGCCTTTCTATTCCACAAAACCGCCATTGTCATCATGGCCCATCCCC AATGAGCCGCTGGGCACACCTCCCAGACGGGGTCGTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCCGGCAGAAGTGCCCCTCACCTCC CAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCGCCCTCCC GGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCTGGATAGGGCGGCTGGCCGGGCG GGGGGCTGTTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGATCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGG CCAGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGCCGGGTG GGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCT CCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTC CTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCCCG CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCAGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCT GCCGGGCGGAGACGCTCCTCACTTCCCAGACGGGGTGGTTGCCAGACGGA GGGGCTCCTCACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTTTCCTC ACTTCTCAGACGGAGCGGCCGGGCAGAGACACTCCTCACCTCCCAGACAG GGTTGCGGCCCAGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGTGGGG CAGAGGTGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTC CTCACTTCCTAGATGGGATGGCGGCGGGGAAGAGGCGCTTCTCGCTTCCT AGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCACACTGGGCA GCCAGGCAGAGGGGCTCCTCATATCCCAGACGATGGGTGGCCAAGCAGAG ACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCT CGGCTCTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGTTGTAGCGAGC CGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGA ACGAGACTCCATCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGA TCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCC CATCTCCACCAAAAAAAAACGAAAACCAGTCAGGCGTGGCGGCGCGCGCC TGCAATCGCAGGCACTCGGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGG TTGCAGTGAGCCGAGATGGCAGCAGTACCGTCCAGCTTTGGCTCGGCATG AGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGG AGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGG GAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACG GGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAG GGA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0314 a0002c0003t0002g0314	1	386	0.0026	2752	c.138 others(2771): Show c.1387-2456_1387-2455insTTTTTTTTTTTTATTTTTTATTTTAT TTTATTTTATTTTTTTTTATTTTTATTGATCATTCTTGGGTGTTTCTCGC AGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCA GATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGC GGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTAAGATTAGGGAGTGGTG ATGACTCTCAACGAGCATGCTGCCCTCAAGCATCTGTTCAACAAAGCACA TCTTGCACCGCCCTTAATCCATCTAACCCTGAGTGGACACAGCACATGTC TCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATCAACAGGATCCCAAG GCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCT ACTTCTATCCACACAGACCCAGCAACCATCCGATTTCTCAATTTTTTCCC CACCCTTCCCGCCTTTCTATTCCACAAAACCGCCATTGTCATCATGGCCC ATCCCCAATGAGCCGCTGGGCACACCTCCCAGACGGGGTCGTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCCGGCAGAAGTGCCCCTC ACCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCGC CCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGATAGGGCGGCTGGC CGGGCGGGGGGCTGTTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGATCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCAGGCCAGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGC CGGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCAC CTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACC TCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCC CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGG GCAGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGACGGGGTGGTTGCCA GACGGAGGGGCTCCTCACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGT TTCCTCACTTCTCAGACGGAGCGGCCGGGCAGAGACACTCCTCACCTCCC AGACAGGGTTGCGGCCCAGCAGAGGCGCTCCTCACATCCCAGACAGGGCG GTGGGGCAGAGGTGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAG ACGCTCCTCACTTCCTAGATGGGATGGCGGCGGGGAAGAGGCGCTTCTCG CTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCACAC TGGGCAGCCAGGCAGAGGGGCTCCTCATATCCCAGACGATGGGTGGCCAA GCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTG CAATCTCGGCTCTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGTTGTA GCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACT GAGTGAACGAGACTCCATCTGCAATCCCGGCACCTCGGGAGGCCGAGGCT GGCGGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCG AAACCCCATCTCCACCAAAAAAAAACGAAAACCAGTCAGGCGTGGCGGCG CGCGCCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAGGAGAATCAGGCA GGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACCGTCCAGCTTTGGCTC GGCATGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGG AGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGG GAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGG GAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAG GGAGAGGGACAAGAGTGTGTTGTTTA	USP47	ENSG00000170242.19	transcript	ENST00000527733.7	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99819332	C C	CCCCTCTT others(2746): Show CCCCTCTTGTCCCCTCCTCTCTTCTCCCCTCCCCTCCCCTCCCCTCTCCT CCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTC TCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTC TCCTCTCCTCCCCTGTTCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTC CCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCTCTCCCCTC CCCTGTTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCTCCTCTCCTC CCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCCCCTC TTGTCCCCTCCCCTCTTCTCCCTCCCCTCCCCTCCCCTCTTGTCCCCTCC CCTCCCCTCTTCTCCCCTCCCCTCCCGTCCCCTCCTCTCTTCTCCCCTCC CATCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCT CCTCTCCACTCCTCCCCTCTCCTCTCCTCCCCTCCCCTCTTCTCCCCTCC CCTCCCCTCTTCTCCCCTCCCCTCCCGTCCCCTCCTCTCTTCTCCCCTCC CCTCCCCTCTTCTCCCCTCCCCTCCCGTCCCCTCCTCTCTTCTCCCCTCC CCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCT CCTCCCCTCTCCTCTCCACTCCTCCCCTCTCCTCTCCACTCCTCCCCTCT CCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCC CCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCC CCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCCTCC CCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCT CTTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCC CCTCCCCTCCTTTCCTCAATATTATAGCTAGTAGAATTTTCAGAAAATAT TAAAAAATATAAAAGTAACATTTTTTCACACTCTCACTGTAATCTGAATT TGCTTGCAGCTCCAAAGAAGGTTTTTAGTAATGTCTTCAAAGAAACAATC TTCATAAGAAAAAAATAAACTAGTTTCCTCAAAATTCAGATTTTATTATA TTTTTTCTCTTACAGAGTATTCAAAAGCTCTTCCTGGTCTCTCCACTTCA TATGCTGCTTTGTTAAGAATTAAGAAGAGTTCATCTTCATCTCTCTTTGG TTCCAAAACCAGACCACGATACAGCAGCCCTTCATTAGGAACACTGAGTG CTTCTTCACCCAGCTGGCGAGGGGCAGCTCAGAATTATTACTCCCCCATC AGTCTTTATCATTCCTCAGATGCCAACTGAGGAACCAGGCATTATTTTGT CGATAGATCCAAAATTGACAAAGGTAGACAACATCTAGAAAATGTTATTC AAACTATAAAGCCAATAGCTGTAGAGCAGTCTTTAATTTAACTGATATCT TAGTGTTGGATATATAGATTTTTTCTTATTTTCCATTCATAAGTAATGCT AAGTATATACTTATCTTTGCGTGCTCTCTTTATTATTTTCTTACACAGAA TACACTTCCAGAAATAAAACCACTGGATTGAAGGATAGGTCTGTTTTATG TTTCCGATATTCACTGTCAAATTGGCCTTCCAAAAATGTCTATTTTTACT TTCATTCTACGAGAGTATTTAGTCTTAATCCTAAATTATAATTGGTATAG AGTGCAATTCGAATAGAGTGCTCTCCTCCCCTCCCCTCCCCTCCCCTCCC CTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTGTTCTCCC CTCCTCTCCCCTCTCCTCCCCTCCCCTCTCCTCTCCTCCCCTGTTCTCCC CTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCCCTCTTGTCCCCTCCCC TCCCCTCTTGTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCTTGTCCCC TCCCCTCCCCTCTTGTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCTTC TCCCCTCCCCTCCCGTCCCCTCCCCTCCCCTCCCGTCCCCTCCTCTCTTC TCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCC TCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCC TCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCC TCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCTCCTCCCCTCCCC TCTCCTCCCCTCCCCTCCCCTCTCCTCTCTACTCCTCCCCTCTCCTCTCC TCCCCTCCCCTCCCCTCTCCTCTCCTCCCCTGTTCTCCCCTCTCCTCCCC TGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCCCCTCTCC TCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCC TCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCC TCCCCTCTCTTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTCTCCTCCCC TCCT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	66	0.0152	2753	c.56- others(2766): Show c.56-207_56-206insTTGTCCCCTCCTCTCTTCTCCCCTCCCCTCCC CTCCCCTCTCCTCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCTCC TCCCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCC TCCCCTCCTCTCTCCTCTCCTCCCCTGTTCTCCCCTCCCCTCCCCTCCCC TCTCCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCC TCCTCTCCCCTCCCCTGTTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCC TCTCCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCC TCCCCTCCCCTCTTGTCCCCTCCCCTCTTCTCCCTCCCCTCCCCTCCCCT CTTGTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCGTCCCCTCCTCT CTTCTCCCCTCCCATCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCT CCCCTCCCCTCTCCTCTCCACTCCTCCCCTCTCCTCTCCTCCCCTCCCCT CTTCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCGTCCCCTCCTCT CTTCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCGTCCCCTCCTCT CTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCT CTCCTCCCCTCTCCTCCCCTCTCCTCTCCACTCCTCCCCTCTCCTCTCCA CTCCTCCCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCT CCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCT CCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCT CCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCTCCT CCCCTCCCCTCTCTTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTCTCCT CCCCTCCCCTCCCCTCCCCTCCTTTCCTCAATATTATAGCTAGTAGAATT TTCAGAAAATATTAAAAAATATAAAAGTAACATTTTTTCACACTCTCACT GTAATCTGAATTTGCTTGCAGCTCCAAAGAAGGTTTTTAGTAATGTCTTC AAAGAAACAATCTTCATAAGAAAAAAATAAACTAGTTTCCTCAAAATTCA GATTTTATTATATTTTTTCTCTTACAGAGTATTCAAAAGCTCTTCCTGGT CTCTCCACTTCATATGCTGCTTTGTTAAGAATTAAGAAGAGTTCATCTTC ATCTCTCTTTGGTTCCAAAACCAGACCACGATACAGCAGCCCTTCATTAG GAACACTGAGTGCTTCTTCACCCAGCTGGCGAGGGGCAGCTCAGAATTAT TACTCCCCCATCAGTCTTTATCATTCCTCAGATGCCAACTGAGGAACCAG GCATTATTTTGTCGATAGATCCAAAATTGACAAAGGTAGACAACATCTAG AAAATGTTATTCAAACTATAAAGCCAATAGCTGTAGAGCAGTCTTTAATT TAACTGATATCTTAGTGTTGGATATATAGATTTTTTCTTATTTTCCATTC ATAAGTAATGCTAAGTATATACTTATCTTTGCGTGCTCTCTTTATTATTT TCTTACACAGAATACACTTCCAGAAATAAAACCACTGGATTGAAGGATAG GTCTGTTTTATGTTTCCGATATTCACTGTCAAATTGGCCTTCCAAAAATG TCTATTTTTACTTTCATTCTACGAGAGTATTTAGTCTTAATCCTAAATTA TAATTGGTATAGAGTGCAATTCGAATAGAGTGCTCTCCTCCCCTCCCCTC CCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTC CCCTGTTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCTCCTCTCCTC CCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCCCTCT TGTCCCCTCCCCTCCCCTCTTGTCCCCTCCCCTCTTCTCCCCTCCCCTCC CCTCTTGTCCCCTCCCCTCCCCTCTTGTCCCCTCCCCTCTTCTCCCCTCC CCTCCCCTCTTCTCCCCTCCCCTCCCGTCCCCTCCCCTCCCCTCCCGTCC CCTCCTCTCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCC CCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTGTTCTCC CCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCC CCTCCCCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCT CCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCCTCTCTACTCCTCC CCTCTCCTCTCCTCCCCTCCCCTCCCCTCTCCTCTCCTCCCCTGTTCTCC CCTCTCCTCCCCTGTTCTCCCCTCCCCTCTCCTCCCCTGTTCTCCCCTCC CCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCC CCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCC CCTCTCCTCCCCTCCCCTCTCTTCCCCTGTTCTCCCCTCCCCTCTCCTCC CCTCTCCTCCCCTCCTCCCTC	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
FOXP1_chr3_70949708_71588728	71435687	G G	GGGACGGA others(2746): Show GGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGAAGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGA GGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGG GAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAA GGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGAAGGGACGGAGG GAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGA GGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGAAGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGG GAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGG GAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAG GGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGA AGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGAG GGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGG AGGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAG GGAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGG AGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGAG GGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGA AGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAG GGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGG AGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAG GGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGG AGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGAG GGAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGA AGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAG GGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGG AGGCACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAG GGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGG AGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGGAGGGACGGAG GGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGG AGGGAAGGAGAGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAG GGAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0028 a0001c0001t0078g0028	1	96	0.0104	2753	c.-16 others(2774): Show c.-168+57738_-168+57739insGTCCCTTCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCTCTCCTTCCCTCCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTCCTTCCCTCCCTCCGTGCCTCCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCT CCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCC CTCCGTCCCTTCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCT CCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCC CTCCGTCCCTTCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCT TCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCC CTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTCCTTCCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCC TTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCTC CCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCC TCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTC CCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCC TCCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTC CCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCC TTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCTC CCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCC TTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTC CCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCC TCCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTCCCTCCCTC CCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCC TTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTC CCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCC TCCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTC CCTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCC TCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCTC CCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCC TCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTC CCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCC TTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCTC CCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCC TCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTC CCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCC TCCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTC CCTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCC TTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTC CCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCC TTCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTC CCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCC TTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTC CCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCC TTCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTC CCTCCGTCCCTCCTTCCCTCCCTCCGTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
NCEH1_chr3_172625249_172716067	172685023	T T	TAGCGGCT others(2746): Show TAGCGGCTTACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTCAATTCTTTTTTTTTTTTTTTTTATTGATCATTCTTGGGTGTTTCT CGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCA GCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCC TGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTTAAGATTAGGGAGTG GTGATGACTCTCAACGAGCATGCTGCCCTCAAGCATCTGTTCAACAAAGC ACATCTTGCACCGCCCTTAATCCATCTAACCCTGAGTGGACACAGCACAT GTCTCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATCAACAGGATCCC AAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATG TCTACTTCTATCCACACAGACCCAGCAACCATCCGATTTCTCAATTTTTT CCCCACCCTTCCCGCCTTTCTATTCCACAAAACCGCCATTGTCATCATGG CCCATCCCCAATGAGCCGCTGGGCACACCTCCCAGACGGGGTCGTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCCGGCAGAAGTGCCC CTCACCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCTC CGCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGATAGGGCGGCT GGCCGGGCGGGGGGCTGTTCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGATCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCAGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGG CCGGGCATAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCC ACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCA CCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGC TGGCCGACCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCA GACGGGGTGGTTGCCAGACGGAGGGGCTCCTCACTTCTCAGACGGGGCGG TTGCCAGGCAGAGGGTTTCCTCACTTCTCAGACGGAGCGGCCGGGCAGAG ACACTCCTCACCTCCGAGACAGGGTTGCGGCCCAGCAGAGGCGCTCCTCA CATCCCAGACAGGGCGGCGGGGCAGAGGTGCTCCCCACATCTCAGACGAT GGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCGGG GAAGAGGCGCTTCTCGCCTCCTAGATGGGATGGCGGCCGGGCAGAGACGC TCCTCACTTTCCACACTGGGCAGCCAGGCAGAGGGGCTCCTCATATCCCA GACGATGGGTGGCCAAGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGC GGCCGGGCAGAGGCTGCAATCTCGGCTCTCCGGGAGGCCAAGGCAGGCGG CTGGGAGGTGGCTGCAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTG GGCACCATTGAGCACTGAGTGAACGAGACTCCATCTGCAATCCCGGCACC TCGGGAGGCCGAGGCTGGCGGATCACTCGCGGCCAGGAGCTGGAGACCAG CCCGGCCAACACAGCGAAACCCCATCTCCACCAAAAAAAAACGAAAACCA GTCAGGCGTGGCGGCGCGCGCCTGCAATCGCAGGCACTCGGCAGGCTGAG GCAGGAGAATCAGGCAGGGAGGTCGCAGTGAGCCGAGATGGCAGCAGTAC CGTCCAGCTTTGGCTCGGCATGAGAGGGAGAGGGAGACGGGAGAGGGAGA GGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAG AGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGCAG AGGGAGACGGGAGAGGGTGAGGGAGACGGGAGAGGGAGAGGGAGACGGGA GAGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0080 a0001c0001t0008g0080	1	332	0.0030	2753	c.138 others(2772): Show c.138+25823_138+25824insGCTCTCCCGTCTCCCTCTCCCTCTCC CGTCTCCCTCACCCTCTCCCGTCTCCCTCTGCCTCTCCCGTCTCCCTCTC CCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTC CCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCT CCCTCTCATGCCGAGCCAAAGCTGGACGGTACTGCTGCCATCTCGGCTCA CTGCGACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCG ATTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGTTTTTTTTTGGTG GAGATGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTGGCCGC GAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGATGGAG TCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTG ATCTCGGCTCGCTGCAGCCACCTCCCAGCCGCCTGCCTTGGCCTCCCGGA GAGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGAG GAGCGTCTCTGCTTGGCCACCCATCGTCTGGGATATGAGGAGCCCCTCTG CCTGGCTGCCCAGTGTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATC CCATCTAGGAGGCGAGAAGCGCCTCTTCCCCGCCGCCATCCCATCTAGGA AGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCA CCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCTGGGCC GCAACCCTGTCTCGGAGGTGAGGAGTGTCTCTGCCCGGCCGCTCCGTCTG AGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAGG AGCCCCTCCGTCTGGCAACCACCCCGTCTGGGAAGTGAGGAGCGTCTCCG CCCGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGCGGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAG GGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCC GGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTATGCCCGGCCAGCCGCCCCGCCCAGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGG GAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGATCAGCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCTGCCTGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGAACAGCCCCCCGCCCGGCCAGCCGCCCTATCCAGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CTGGCCAGCCGCCCCGTCCGGGAGGGCGGAGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCATCTGGGAGGTGAGGGGCACTTCTGCCGGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCTGGGAG GTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGCGGTTTT GTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGG TTGCTGGGTCTGTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTTGT TCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACC TTATCCCCAACCCTGTGCTCTCTGAGACATGTGCTGTGTCCACTCAGGGT TAGATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTGAACAGATGCTTGA GGGCAGCATGCTCGTTGAGAGTCATCACCACTCCCTAATCTTAAGTACCC AGGGACACAAACGCTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACC AGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTC CTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAA TAAAAAAAAAAAAAAAAAGAATTGAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGTGTAAGCCGCT	NCEH1	ENSG00000144959.11	transcript	ENST00000475381.7	protein_coding	1/4			chr3	TogoVar
RNF216_chr7_5615047_5786663	5655735	T T	TAAAATGT others(2746): Show TAAAATGTACTCTCTCGGTCTTCAAGAAAAGTAGAATGGACTAAAGGTCT TTTAAAAACACACCTCAGCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCCACGGTCTCCCTCTCATGCGGAGCCGAAGCTGGACTG TACTGCTGCCATCTCGGCTCACTGCATCCTCCCTGCCTGATTCTCCTGCC TCAGTCTGCCGAGTGCCTGCGATTGCAGGCACGCGCCGCCACGCCTGACT GGTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCCGGTCTCCAGC CCCTAACCGCGAGTGATCCGCCAACCTCGGCCTCCCGAGGTGCCGGGATT GCAGACAGAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTG CAGTGGCGTGATCTCGGCTCACTACAACCTACACCTCCCAGCCGCCTGCC TTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCG TCTGGGAAGTGAGGAGTGTCTCTGCCTCGCCGCCCATCGTCTGGGATGTG AGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCCG CCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCACCTCTTCCCAGCCGCC ATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGA GATGTGGGGAGCGCCTCTGCCCCGCCACCCCATCTGGGATGTGAGGAGCG CCTCTGCCCGGCCGAGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCG GCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCACCCCGT CTGAGAAGTGAGGAGCCCCTCCGCCTGGCAGCTGCCCCGTCTGAGAAGTG AGGAGCCTCTCCACCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCATCT CCGCCCGGCAGCCATCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGACCC CCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCGC CGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCT CCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGACCAGCCGCCCCATCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCA GGAGGGAGGTGGGGGTGTCAGCCCCATGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGTGGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCA GCCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCGAGCCACCACCCCGTCTGG GAGGTGTGCCCAACGGCTCATTGAGAACGGGCCAGGATGACAATGGCGGC CTTGTGGAATAGAAAGGCGGGAAAGGCGGGGAAAAGATTGAGAAATCGGA TGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTT TGTTCTGCACTAAGAAAAATTCCTCTGTCTTGGGATCCTGTTGATCTGTG ACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAG GGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCT TGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGTA ATCAGGGACACAAACACTGCGGAAGGCCACAGGGTCCTCTGCCTAGGAAA ACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATT GTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTAT CAATAAAAAAATAAATTAAAAAAAAAAAATAAAAAAAAAAATAATAAAAA AATAAAAACACACCTCACCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0241 a0001c0008t0007g0241	1	274	0.0037	2753	c.206 others(2772): Show c.2062-3226_2062-3225insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGGTGAGGTGTGTTTTTATTTTTTTATTATTTTTTTTTTTAT TTTTTTTTTTTAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCAC AGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCA GATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGT GGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTG ATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACA TCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTT TCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAG ACAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCT ACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCC CGCCTTTCCCGCCTTTCTATTCCACAAGGCCGCCATTGTCATCCTGGCCC GTTCTCAATGAGCCGTTGGGCACACCTCCCAGACGGGGTGGTGGCTCGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCACTGGCCGGGC AGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CATGGGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGTCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCC TCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGT GGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCGGGC TGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGCACGGCTGGCCAGGCGGCGGGGCTGACCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCGGGGGTCTGACCCCCCCCCACCTC CCTCCCGGACGGGATGGCTGCCGGGCGGAGATGCTCCTCACTTCCCAGAT GGGGTGGCTGCCGGGTGGAGAGGCTCCTCACTTCTCAGACGGGGCAGCTG CCAGGCGGAGGGGCTCCTCACTTCTCAGACGGGGTGGTTGCCAGGCAGAG GGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCT CCCAGACGGGGTCTCGGCCGGGCAGAGGCGCTCCTCACATCCCAGATGGG GTGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCA GAGACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGGAAGAGGTGCTCC TCACTTCCTAGATGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCA GACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGC GAGGCAGAGACACTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGG CTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGTAG GTTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTG AGCACTGAGTGAACGAGACTCTGTCTGCAATCCCGGCACCTCGGGAGGCC GAGGTTGGCGGATCACTCGCGGTTAGGGGCTGGAGACCGGCCCGGCCAAC ACAGCGAAACCCCGTCTCCACCAAAACCAGTCAGGCGTGGCGGCGCGTGC CTGCAATCGCAGGCACTCGGCAGACTGAGGCAGGAGAATCAGGCAGGGAG GATGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCCGCAT GAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGCTGAGGTGTGTTTTTAAAAGACCTTTAGTCCATTCTACTT TTCTTGAAGACCGAGAGAGTACATTTT	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	13/16			chr7	TogoVar
SEC23B_chr20_18502940_18566415	18552183	T T	TTAGAAAT others(2746): Show TTAGAAATGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAA AAGTCTCCCATGTCCACTTCTATCCACACAGACCCGGCAACCATCCGATT TCTCAATTTTTTCCCCACCCTTCCCGCCTTTCTATTCCACAAAACCGCCA TTGTCATCATGGCCCATCCCCAATGAGCCGCTGGGCACACCTCCCAGACG GGGTCGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAAGCGCCCCTCACCTCCCGGATGGGGCAGCTGGCCGGGTGGGGGGC TGACCCCCCCCACCATCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCT GGATAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCC CTCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCAGGCGGGGGGCTGACCCCCCGACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAT CCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGCTGACCCCTCCACCCCCCTCCCGGATAGGGCG GCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGCTGACCCCCCCCACCCCCCTCCCGGATGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGTCCTCACTTCCTAGTAGGGGCGGCCGGGCAGAGGCG CCCCACACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACTGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGA CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGAGTCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCTCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTC CTCATTTCCCAGACGGGGTGGCTGCCGGACGGAGGGGCTCCTCTCTTCTC AGACGGGGCGGTTGCCAGGCAGAGGGTTTCCTCGCTTCTCAGACGGGGCG GCCGGGCAGAGACGCTCCTCACCTCCCAGACAGGGTTGCGGCCCAGCAGA GGCGCTCCTCACATCCCAGACAGGGCGGCGGGGCAGAGGTGCTCCCCACA TCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGGG ATGGCGGCGGGGAAGAGGCGCTCCTCGCTTCCTAGATGGGATGGCGGCCG GGCAGAGACGCTCCTCACTTTCCAGACTGTGCAGCCAGGCAGAGAGGCTC CTCATATCCCAGACGATGGGGGGCCAGGCAGAGACGCTCCTCACTTCCCA GACGGGGTGGCGGCTGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCC AAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCAC TGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACGAGACTCCGTCT GCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGTTAG GAGCTGGAGACCAGCCCGGCCAACACAGCAAAACCCCGTCTCCACCAAAA AAAAAACGAAAACCAGTCAGGCGTGGCGGCGTGCGCCTGCAATCGCAGGC ACTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	410	0.0024	2753	c.199 others(2772): Show c.1992+1022_1992+1023insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTCCAAGGCAGAAGAATTTTTCTTAGTACAGAA CAAAATGAAAAGTCTCCCATGTCCACTTCTATCCACACAGACCCGGCAAC CATCCGATTTCTCAATTTTTTCCCCACCCTTCCCGCCTTTCTATTCCACA AAACCGCCATTGTCATCATGGCCCATCCCCAATGAGCCGCTGGGCACACC TCCCAGACGGGGTCGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAAGCGCCCCTCACCTCCCGGATGGGGCAGCTGGCCGG GTGGGGGGCTGACCCCCCCCACCATCCTCCCGGACGGGGCGGCTGGCCAG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCC TCACCTCCTGGATAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCTACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGACCCCCCCTCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCGACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGATCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCTCCACCCCCCTCCCG GATAGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGA CTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCCCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCTAGTAGGGGCGGCCGG GCAGAGGCGCCCCACACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGG ACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGAGTCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCTCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCG GAGACGCTCCTCATTTCCCAGACGGGGTGGCTGCCGGACGGAGGGGCTCC TCTCTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTTTCCTCGCTTCTCA GACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACAGGGTTGCGG CCCAGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGCGGGGCAGAGGTG CTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTC CTAGATGGGATGGCGGCGGGGAAGAGGCGCTCCTCGCTTCCTAGATGGGA TGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGTGCAGCCAGGCA GAGAGGCTCCTCATATCCCAGACGATGGGGGGCCAGGCAGAGACGCTCCT CACTTCCCAGACGGGGTGGCGGCTGGGCAGAGGCTGCAATCTCGGCACTT TGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGA TCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACGAG ACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACT CGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCAAAACCCCGTCT CCACCAAAAAAAAAACGAAAACCAGTCAGGCGTGGCGGCGTGCGCCTGCA ATCGCAGGCACTCTAGAAATGATTTCT	SEC23B	ENSG00000101310.17	transcript	ENST00000650089.1	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
SH2D4B_chr10_80532902_80651560	80627643	T T	TACAAAAT others(2746): Show TACAAAATTCCCGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCACGGTCT CCCTCTGATGCCGAGCCAAGGCTGGACGGTACTGCTGCCATCTCGGCTCA CTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCG ATTGCAGGCGCGCACCGCCACGCCTGACTGGTTTTCGTTTTTTTTTTGGT GGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAGCCG CGAGTGATCCGCCAGCCTCAGCCTCCCAAGGTGCCGGGATTGCAGATGGA GTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGT GATCTCGGCTCGCTGCAACCACCTCCCAGCCGCCTGCCTTGGCCTCCCGG AGAGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGA GGAGCGTCTCTGCTTGGCCACCCATCGTCTGGGATGTGAGGAGCCCCTCT GCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCAT CCCATCTGGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCATCTAGG AAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGC ACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCTGGGC CGCAGCCCTGTCTGGGAGGTGGGGAGCGTCTCTGCCCGGCCGCTCCGTCT GAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAG GAGCCCCTCCGTCCGGCAACCACCCCGTCTGGGAAGTGAGGAGCGTCTCC GCCCAGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCTTCTGCCTGGCCAGCCGCCCCATCCGG GAGGGAGGCGGGGGGGGGGGGGGGTCGGCCAGCTGCCCCGTCCGGGAGGG AGGTGGGGGGGTAAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGACGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGTTCAGCCCCCCGCCC GGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTG GCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCGGGAGG GAGGTGGGGGGGTCATCCCCCCACCTGGCCAGCCGCCCCATCCGGGAGGG AGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGG GGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGTGGGGGGGGGGGGTCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTTCCGG CCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGACAGCCCCCCGCCCAGCCAGCCGCCCTATCCAGGAGGTGA GGGGCGCCTCTGCCCGGCCGTCCCTACTGGGAAGTGAGGAGCCCCTCTGC CTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCTGGGAG GTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGCGGTTTT GTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGG TTGCCGGGTCTCTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTTGT TCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACC TTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGT TAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGA AGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAAGTACCC AGGGACACAAACACTGCGGAAGGCCAAGGCCGCAGGGTCCTCTGCCTAGG AAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACT ATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAAT GATCAATAAAAAAAAAATAAATAAATTAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA18747.hp2 homoSapiens_chm13v2.hp1 HG01257.hp2 NA18747.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0002c0002 a0003c0003 a0001c0006 a0002c0002 a0003c0003	a0001c0006t0002 a0002c0002t0002 a0003c0003t0002 a0001c0006t0002 a0002c0002t0002 a0003c0003t0002	a0001c0006t0002g0135 a0002c0002t0002g0051 a0003c0003t0002g0103 a0001c0006t0002g0135 a0002c0002t0002g0051 a0003c0003t0002g0103	3	322	0.0093	2753	c.989 others(2770): Show c.989-6631_989-6630insGCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCCACGGTCTCCCTCTGATGCCGAGCCAAGGCTGGACGGTACTGCTGCCA TCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCG AGTGCCTGCGATTGCAGGCGCGCACCGCCACGCCTGACTGGTTTTCGTTT TTTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAG CTCCTAGCCGCGAGTGATCCGCCAGCCTCAGCCTCCCAAGGTGCCGGGAT TGCAGATGGAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGT GCAGTGGCGTGATCTCGGCTCGCTGCAACCACCTCCCAGCCGCCTGCCTT GGCCTCCCGGAGAGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTC TGGGAAGTGAGGAGCGTCTCTGCTTGGCCACCCATCGTCTGGGATGTGAG GAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCC CGGCCGCCATCCCATCTGGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCAT CCCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGA TGTGGGGAGCACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCC TCTGCTGGGCCGCAGCCCTGTCTGGGAGGTGGGGAGCGTCTCTGCCCGGC CGCTCCGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCT GAGAAGTGAGGAGCCCCTCCGTCCGGCAACCACCCCGTCTGGGAAGTGAG GAGCGTCTCCGCCCAGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCTTCTGCCTGGCCAGCCG CCCCATCCGGGAGGGAGGCGGGGGGGGGGGGGGGTCGGCCAGCTGCCCCG TCCGGGAGGGAGGTGGGGGGGTAAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGACGCCCCATCCAGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGTTCAG CCCCCCGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GCCCGGGAGGGAGGTGGGGGGGTCATCCCCCCACCTGGCCAGCCGCCCCA TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGTGGGGGG GGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCTTCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGACAGCCCCCCGCCCAGCCAGCCGCCCTATC CAGGAGGTGAGGGGCGCCTCTGCCCGGCCGTCCCTACTGGGAAGTGAGGA GCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCC CGTCTGGGAGGTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACAA TGGCGGTTTTGTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGA AATCGGATGGTTGCCGGGTCTCTGTGGATAGAAGTAGACATGGGAGACTT TTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTG ATCTGTGACCTTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTC CACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAAC AGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATC TTAAGTACCCAGGGACACAAACACTGCGGAAGGCCAAGGCCGCAGGGTCC TCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCT TCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAAC ACCCAAGAATGATCAATAAAAAAAAAATAAATAAATTAAAAAAAAAAAAA AAAAAAAAAAAAAAACAAAATTCCC	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80627643	T T	TACAAAAT others(2746): Show TACAAAATTCCCGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCACGGTCT CCCTCTGATGCCGAGCCAAGGCTGGACGGTACTGCTGCCATCTCGGCTCA CTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGCG ATTGCAGGCGCGCACCGCCACGCCTGACTGGTTTTCGTTTTTTTTTTGGT GGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAGCCG CGAGTGATCCGCCAGCCTCAGCCTCCCAAGGTGCCGGGATTGCAGATGGA GTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGT GATCTCGGCTCGCTGCAACCACCTCCCAGCCGCCTGCCTTGGCCTCCCGG AGAGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGA GGAGCGTCTCTGCTTGGCCACCCATCGTCTGGGATGTGAGGAGCCCCTCT GCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCAT CCCATCTGGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCATCCCATCTAGG AAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGC ACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCCTCTGCTGGGC CGCAGCCCTGTCTGGGAGGTGGGGAGCGTCTCTGCCCGGCCGCTCCGTCT GAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAG GAGCCCCTCCGTCCGGCAACCACCCCGTCTGGGAAGTGAGGAGCGTCTCC GCCCAGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCTTCTGCCTGGCCAGCCGCCCCATCCGG GAGGGAGGCGGGGGGGGGGGGGGTCGGCCAGCTGCCCCGTCCGGGAGGGA GGTGGGGGGGTAAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGACGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGTTCAGCCCCCCGCCCG GCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGG CCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCGGGAGGG AGGTGGGGGGGTCATCCCCCCACCTGGCCAGCCGCCCCATCCGGGAGGGA GGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGGG GAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGTGGGGGGGGGGGGGTCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTTCCGG CCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGACAGCCCCCCGCCCAGCCAGCCGCCCTATCCAGGAGGTGA GGGGCGCCTCTGCCCGGCCGTCCCTACTGGGAAGTGAGGAGCCCCTCTGC CTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCTGGGAG GTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGCGGTTTT GTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGG TTGCCGGGTCTCTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTTGT TCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACC TTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGT TAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGA AGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAAGTACCC AGGGACACAAACACTGCGGAAGGCCAAGGCCGCAGGGTCCTCTGCCTAGG AAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACT ATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAAT GATCAATAAAAAAAAAATAAATAAATTAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18954.hp2 HG03239.hp2 NA18954.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0140 a0002c0002t0002g0236 a0001c0001t0002g0140 a0002c0002t0002g0236	2	322	0.0062	2753	c.989 others(2770): Show c.989-6631_989-6630insGCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCCACGGTCTCCCTCTGATGCCGAGCCAAGGCTGGACGGTACTGCTGCCA TCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCG AGTGCCTGCGATTGCAGGCGCGCACCGCCACGCCTGACTGGTTTTCGTTT TTTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAG CTCCTAGCCGCGAGTGATCCGCCAGCCTCAGCCTCCCAAGGTGCCGGGAT TGCAGATGGAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGT GCAGTGGCGTGATCTCGGCTCGCTGCAACCACCTCCCAGCCGCCTGCCTT GGCCTCCCGGAGAGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTC TGGGAAGTGAGGAGCGTCTCTGCTTGGCCACCCATCGTCTGGGATGTGAG GAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCC CGGCCGCCATCCCATCTGGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCAT CCCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGA TGTGGGGAGCACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCC TCTGCTGGGCCGCAGCCCTGTCTGGGAGGTGGGGAGCGTCTCTGCCCGGC CGCTCCGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCT GAGAAGTGAGGAGCCCCTCCGTCCGGCAACCACCCCGTCTGGGAAGTGAG GAGCGTCTCCGCCCAGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCTTCTGCCTGGCCAGCCG CCCCATCCGGGAGGGAGGCGGGGGGGGGGGGGGTCGGCCAGCTGCCCCGT CCGGGAGGGAGGTGGGGGGGTAAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGACGCCCCATCCAGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGTTCAGC CCCCCGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGATCAGCC CCCCGCCTGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG CCCGGGAGGGAGGTGGGGGGGTCATCCCCCCACCTGGCCAGCCGCCCCAT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGTGGGGGGG GGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCTTCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGACAGCCCCCCGCCCAGCCAGCCGCCCTATC CAGGAGGTGAGGGGCGCCTCTGCCCGGCCGTCCCTACTGGGAAGTGAGGA GCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCC CGTCTGGGAGGTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACAA TGGCGGTTTTGTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGA AATCGGATGGTTGCCGGGTCTCTGTGGATAGAAGTAGACATGGGAGACTT TTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTG ATCTGTGACCTTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTC CACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAAC AGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATC TTAAGTACCCAGGGACACAAACACTGCGGAAGGCCAAGGCCGCAGGGTCC TCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCT TCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAAC ACCCAAGAATGATCAATAAAAAAAAAATAAATAAATTAAAAAAAAAAAAA AAAAAAAAAAAAAAACAAAATTCCC	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr10	TogoVar

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