Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results per page.

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
FLT4_chr5_180596506_180654600	180615442	G G	GCCCACCG others(803): Show GCCCACCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGGCCCG CCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACT GGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCC GCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCACCGGT CACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGTCCCGCTGGTCACCT CCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCACCGGTCACCTCCCTTC TCCACTTCCTTTCGGAGCACTGGGGCCCGCCGGTCACCTCCCTTCTCCAC TTCCGAAATCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTTACCTCCCT TCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCA CTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCT TTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTTGGA GCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACT GGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTC GGAGCACTGGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCA CTTCCTTTAGGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCC TTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCG GAGCACTGGGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG01243.hp2 HG02451.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0010 a0007c0010t0015 a0007c0010t0010 a0007c0010t0015	a0007c0010t0010g0323 a0007c0010t0015g0044 a0007c0010t0010g0323 a0007c0010t0015g0044	2	388	0.0052	810	c.321 others(827): Show c.3219+924_3219+925insGCCCAGTGCTCCGAAAGGAAGTGGAGAA GGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAG GTGACCAGCGGGACCCAGTGCTCCTAAAGGAAGTGGATTTCGGAAGTGGA GAAGGGAGGTGACCAGCGGGGCCCCAGTGCTCCGAAAGACAGTGGATTTC GGAAGTGGAGAAGGGAGGTGACCGGCAGGCCCCAGTGCTCCAAAAGGAAG TGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAG AAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGA GGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGAC CGGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTAACCGGCGG GCCCAGTGCTCCGAAAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGA CCGGCGGGCCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCGGT GGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGACC CAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCGGTGGGCCCAGTGC TCCGAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAA AGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAG TGGATTTCGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCCAGTGCTCCG AAAGGAAGTGGAGAAGGGAGGTGACCGGTGGG	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
GALNT9_chr12_132191372_132334589	132241627	C C	CGGGGCCC others(803): Show CGGGGCCCTCCCTATCCCCATTACACACACAACACACCCCCTTCCCGGGG CCCTCCCTATACCCATTACACACACACCACACCCCCTTCCCGGGGCCCTC CCTATCCCCATTACACACACAACACACCCCCTTCCAGGGGCCCTCCCTAT ACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCA TTACACACACGCCACACACCCTTCCAGGGGCCCTCCATATACCCATTTAC ACACACGCCACGCCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACA CGCCACACCCCCTTCCCGGGTCCCTCCCTACACCCATTACACACACACCA CACACCCTTCCAGGGGCCCTCCCTATACCCATTAACACACACGCCACGCC CCCTTCCCGGGGCCCTTCCTATACCCATTACACACACGCCACACCCCATT CCCGGGGCCCTCCCTATACCCATTACACACACACCACACACCCTTCCCGG GGCCCTCCCTATACCCATTAGACACACACCACACACCCTTCCCGGGGCCC TCCCTATACCCATTAGACACACGCCACACACCCTTCCAGGGGCCCTCCCT ATACCCATTACACACACGCCACACACCCTTCCCAGGGCCGTCCCTATACC CATTACACACACAACACACACCCTTCCAGGGGCCCTCCCTGTACCCATTA CACACACAACACACACTTCCCGGGGCCCTCCCTATACCCATTACACACAC AACACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACAC ACACCCTTCCA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	183	0.0055	810	c.107 others(829): Show c.1077+6282_1077+6283insTGGAAGGGTGTGTGTTGTGTGTGTAA TGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGTTGTGTGTGTAATGGGT ATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTGTAATGGGTACAGGGA GGGCCCCTGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGACGGCC CTGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGG AAGGGTGTGTGGCGTGTGTCTAATGGGTATAGGGAGGGCCCCGGGAAGGG TGTGTGGTGTGTGTCTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGT GGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAATGGGGTGTGGCGT GTGTGTAATGGGTATAGGAAGGGCCCCGGGAAGGGGGCGTGGCGTGTGTG TTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAAT GGGTGTAGGGAGGGACCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTA TAGGGAGGGCCCCGGGAAGGGGGCGTGGCGTGTGTGTAAATGGGTATATG GAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGG CCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCT GGAAGGGGGTGTGTTGTGTGTGTAATGGGGATAGGGAGGGCCCCGGGAAG GGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGT GTGTTGTGTGTGTAATGGGGATAGGGAGGGCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(803): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGA GGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGA GGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAG GAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGAAACGGGCAGGGAGGAG AGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGG AGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	204	0.0049	810	c.978 others(827): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGG AGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGG AGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGG GCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(803): Show GGGGCAGGGAGGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAG AGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGG CAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAG GGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGATGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGG GAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGG AGGGGCAGGGA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	204	0.0049	810	c.978 others(827): Show c.978-2481_978-2480insGCAGGGAGGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGCAGG GAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGA GACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGG GAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGG AGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGG GCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(803): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCC ACCTCCATCCTCCTCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCTCCCCTCCTCCCCCC CTCCCCCCTCCTCCCCCTCCTCCCCCCCCTCCCCCCCTCCTCCCCTCCTC CTCCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTC CCCCTCCTCCTCCCCCCTCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCC CCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCC CCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCTCCCC CCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCCTCCCCCCCTCCTCCCTG TCTTCCTCCCCCACCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCC ACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCC CCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	252	0.0040	810	c.10- others(827): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCCCACCTCCATCCTCCTCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCT CCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCTCCTCCCCCCCCTCCCCCC CTCCTCCCCTCCTCCTCCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCC CCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCTCCTCCCCCTCCT CCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTC CCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCC CCCTCCTCCTCCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCCTCC CCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCCCCCTCCTCCC TGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTC CTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(803): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTG AGGGTGATGATGGTGGGGGTAATGACGGTGGGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGATGATGGTGGG GGTGATGACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGG GGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGA TGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGATGGTG GGGGTGATGATGGTGATGGTGGGGGTGATGATGGTGAGGGTGATGATGGT GGGGGTGATGGTGGGGGTGGGGGTGGGGGTAATGACGGTGGGGTGGGGGT AATGACGGTGG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0147 a0006c0011t0001g0147	1	186	0.0054	810	c.956 others(827): Show c.956+1962_956+1963insCCACCGTCATTACCCCCACCCCACCGTC ATTACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCAC CATCATCACCCCCACCATCACCATCATCACCCCCACCATCATCACCCTCA CCCCCACCCCCACCCCCACCCCCACCCCCACCATCATCACCTCTACCATC ACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCAT CACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCA CCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACC GTCATCACCCCCACCGCCATCACCGTCATCACCCCCACCATCATCGTCAT CACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCA CCCCACCGTCATTACCCCCACCATCATCACCCTCACCATCATCACCCCCA CCCCCACCATCATCACCCCCACCATCACCATCATCACCCCCACCCCCACC GTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCAC CCCCACCCCCACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCC CCACCGTCATCACCCCCACATCACCGTCATCACCCCCCCACCCCCATCAT CACCGTCATCACCCCTCCACCCCCATCATCACCGTCATCACCCCCACCAT CATCACCCCCAGCCCCACCGTCATCACCCCCACCATCACCATCATCACCC CCACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LARS1_chr5_146108034_146187650	146174557	T T	TATATATA others(803): Show TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATATCCATATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATATCCATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATCCATATATATATCCATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATCCATATATATATATATCCATATATATATCCATATATATATA TATCCATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATCC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0229 a0002c0002t0002g0229	1	284	0.0035	810	c.126 others(827): Show c.126-1784_126-1783insGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATGGATATATATATATATGGATATATATATAT GGATATATATATATATGGATATATATATGGATATATATATATATGGATAT ATATATGGATATATATATATATGGATATATATATGGATATATATATATAT GGATATATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATGGATATATATATATATGGATATATATATATGGATATATAT ATGGATATATATATGGATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATATATGGATATATATATGGATATATATATATATATGGATATATATATAT GGATATATATATATATGGATATATATATATATGGATATATATATATATGG ATATATATATATATGGATATATATATATATGGATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATATGGATATATAT ATATGGATATATATATATATGGATATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(803): Show TATATATCCATATATATATATATATCCATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATC CATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATCCATATATA TATATATCCATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATATATCC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0240 a0002c0002t0002g0240	1	284	0.0035	810	c.126 others(827): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATGGATATATATATATATGGATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATGGATATATATATAT GGATATATATATATGGATATATATATATGGATATATATATATGGATATAT ATATATGGATATATATATATGGATATATATATGGATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATGGATATATATATGGATATATATATATATGGATATATAT ATATGGATATATATATATATGGATATATATATATATGGATATATATATAT GGATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATGGATATATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHPP_chr10_124456823_124619141	124507256	G G	GGGGGATA others(803): Show GGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGT GGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGG GGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGG GGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGGGGAGTAGGCAGGATTTCAGGTCGGGGGGG TAGACAGGATTTCAGGTGGGGAGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGG GAGTATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAG TATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGG ATTTCAGGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	260	0.0039	810	c.624 others(827): Show c.624+9132_624+9133insATAGGGAGTATTTCAGGTGGGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAG GGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGAGTAGGCAGG ATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGAGGTAGGGAGGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATT TCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATT TCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGACAGGATTT CAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTC AGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTC AGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCA GGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAG GTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGG TGGGGGGGGTAGGGAGGATTTCAGGTGTGGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MICAL3_chr22_17782649_18029561	17876757	A A	AGGAGGTT others(803): Show AGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAA GTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTAT GGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGC TTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTGAGGGAGCTTATGGAGGTTAGGGAGGT TAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGG CAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTT ATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGA GGTTAGGGAGATTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAG GTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATG GAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGG AGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGATTATGGAGGTT AGGGAGGTTAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0212 a0001c0001t0007g0212	1	274	0.0037	810	c.224 others(829): Show c.2242-4735_2242-4734insATAACCTCCCTAACCTCCATAATCTC CCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCC CTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTCAC CTCCATAACCTCCCTAACTTCCCTAACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACC TCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCT CACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCT CCATAACTTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATA ACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCATAAGCTC CCTAACCTCCATAACCTCCCTAACCTCCATAACTGCCATAACCTCCATAA CCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCC ATAAGCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCATAAC TTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACC TCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCTT AACCTCCCTAACCTCCATAAGCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876932	G G	GGTTATGG others(803): Show GGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAG GGAGGTTAAGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGG TTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATG GCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGCTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGG AGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAAGTT ATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGA GGTGAGGGAGGTTAAGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTA AGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAG GTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAG TTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATG GAGGTTAGGGAGGTTAAGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGT TAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGG AGGTTAGGGAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	274	0.0037	810	c.224 others(829): Show c.2242-4910_2242-4909insTTCCCTAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCC ATAAGCTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCT TAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACC TCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAACCTCCCT AACCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCT CCATAAGCTCCCTAACCTCCTTAACCTCCCTCACCTCCATAACCTCCCTC ACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTC CATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAACTTCCCTAA CCTCCCTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCC CTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAAC CTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCTCCC TAACCTCCATAAGCTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGC TCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCT AACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCT CCCTAACCTCCATAATCTCCCTAACCTCCATAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876955	T T	TGGAGGTT others(803): Show TGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAA GTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTAT GGAGGTTAGGGAGGTTAAGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGC TTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAGG GAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGAT TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGG AGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTT AGGGAGATTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGA GGTTATGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTAAGGAGGTTA GGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAG GTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAG GGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGG TTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGG GAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGT TAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTT AGGGAGGTTAG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	274	0.0037	810	c.224 others(829): Show c.2242-4933_2242-4932insCTAACCTCCCTAACCTCCATAACTTC CCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAA CCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCTTAACCTCC CTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC CTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCC TAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACT GCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCT AACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCTTAACCT CCCTCACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATA ACCTCCATAACTTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGC CATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAA GCTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCC ATAACTGCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAAC TTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCA TAAGCTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACC TCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCTT AACCTCCCTAACCTCCATAAGCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877225	G G	GGGAGGTT others(803): Show GGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGG TGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTGAGG GAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGT TATGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGG AGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTT AGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGA GGTTAGGGAGGTTATGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTGA GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGATTATGGAGGTGAGGGAG GTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGG TTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGT TATGGAGGTTAGGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTT AGGGAGGTTAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	274	0.0037	810	c.224 others(829): Show c.2242-5203_2242-5202insATAACCTCCCTAACCTCCATAACCTC CCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAA CCTCCATAATCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCC ATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTCACCTCCA TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACC TCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCAT AATCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCT CCCTAACTTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATA ACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTC CCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTCA CCTCCATAACCTCCCTAACTTCCCTAACCTCCATAACCTCCCTCACCTCC ATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAAC CTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCC TCACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACC TCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCATAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
NEDD4L_chr18_58039226_58406539	58209261	T T	TCCTCCCC others(803): Show TCCTCCCCCTCCTCCTCCACCTCCTCCTCGTCCTCCACCTCCATCTCCTC TCCATCCTCCTCCTCCACCTCCACCTCCTCCTCCCTCTCCTCCTCCCTCT CCTCCTCCTCCCCCTCCTCCTCGTCCTCTACCTCCTCCTCCTCCACCACC TCCATCTGCTCCTCCTCCTCCCCCTCCACCTCCCCCTCCCCCTCCTCCTC CCTCTCCTCCTCCCCCTCCACCTCCACCTCTTCCTCCCCGCCTCCTCCCC CACCCCCTCCTTCTCAACCTCCGCCTCCCCTTCCTCCTCATCATCCTCCA CCTCCACCTCCCCCCTGTTCCTCCTCCTCCTCCTCCACCTCCACCCCCTC CTCCTCATCCTCCACCCCCTCCTCCTCCTCCACCTCCACCTCCACCTCCT CATCCTGCACCTCCACGTCCTCCTCCCCCTCCACCTCCTCCTCCACCTGC ACCTCCTCAACCTCCTCCTCCCCCTCCACCTCCCCCTCCTCCCCCTCCTC CTTAACCTCCGCCTCCACCTCCTCCTCCTCATCCTCCACTTCCACCTCCT CCTCCCCCTGGTCCTTCCCCTCCTCCTCCTCCACCTCCTCCTCCTCATCC TCCACCCCCTCCTCCTCATCCTCCACCCCCTCCTCCTCCACTTCTGCCTC CACCTCCTCCTCCTCATCCTGCACTTCCGCCTCCTCCTCCCCCTCCCACC TCCTCCACCTCCACCTCCTCCTCCTCATCCTCCACCTGCTCCTCCTCATC CTCCACCTCCACCTCCACCTCCTCCTCCTCCACCTCCTCCTTCTCCACCT CCACATCCTCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	118	0.0085	810	c.123 others(829): Show c.123-36166_123-36165insCCTCCCCCTCCTCCTCCACCTCCTCC TCGTCCTCCACCTCCATCTCCTCTCCATCCTCCTCCTCCACCTCCACCTC CTCCTCCCTCTCCTCCTCCCTCTCCTCCTCCTCCCCCTCCTCCTCGTCCT CTACCTCCTCCTCCTCCACCACCTCCATCTGCTCCTCCTCCTCCCCCTCC ACCTCCCCCTCCCCCTCCTCCTCCCTCTCCTCCTCCCCCTCCACCTCCAC CTCTTCCTCCCCGCCTCCTCCCCCACCCCCTCCTTCTCAACCTCCGCCTC CCCTTCCTCCTCATCATCCTCCACCTCCACCTCCCCCCTGTTCCTCCTCC TCCTCCTCCACCTCCACCCCCTCCTCCTCATCCTCCACCCCCTCCTCCTC CTCCACCTCCACCTCCACCTCCTCATCCTGCACCTCCACGTCCTCCTCCC CCTCCACCTCCTCCTCCACCTGCACCTCCTCAACCTCCTCCTCCCCCTCC ACCTCCCCCTCCTCCCCCTCCTCCTTAACCTCCGCCTCCACCTCCTCCTC CTCATCCTCCACTTCCACCTCCTCCTCCCCCTGGTCCTTCCCCTCCTCCT CCTCCACCTCCTCCTCCTCATCCTCCACCCCCTCCTCCTCATCCTCCACC CCCTCCTCCTCCACTTCTGCCTCCACCTCCTCCTCCTCATCCTGCACTTC CGCCTCCTCCTCCCCCTCCCACCTCCTCCACCTCCACCTCCTCCTCCTCA TCCTCCACCTGCTCCTCCTCATCCTCCACCTCCACCTCCACCTCCTCCTC CTCCACCTCCTCCTTCTCCACCTCCACATCCTCC	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30			chr18	TogoVar
NKX1-1_chr4_1397932_1411442	1397942	C C	CGGGTGCT others(803): Show CGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTCAGGCATCTG GATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGGATGT GGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTG GATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC AGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTT CGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCCGGGTGCTTTCAGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGGATGT GGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTA GATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCA GGTTGGATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	382	0.0026	810	c.49 others(821): Show c.4989_*4990insTGTATCCAACCTGATCTACTCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAA ACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACC CTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCA TCCAACCTGATCTACCCACATCCAGATGCCTGAAAGCACCCGGCATCCAA CCTGATCTACTCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA ACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACC CTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAGCACCCGGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC CCACATCCAGATGCCTGAAAGCACCC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4989		chr4	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(803): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGA GGGGAAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGG GAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGA GGAAGGGGAGGGAGGAGGGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGA GGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGG GGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAG GAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGA GGGGAGGGGGGGAGGGGAGGGGGGGAGGAGGGGAGGGGAGGAGGGGAGGG GAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAAAGGA AGGGAGGGAAGGGGAGGGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAG GGGAGGAGTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTG GAGAGGAGGGGAAGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAGGGAAG GGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAG GGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0001 a0013c0021t0001	a0013c0021t0001g0202 a0013c0021t0001g0202	1	208	0.0048	810	c.279 others(825): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCACTCCTCCCTCCTCTGCT TCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTCCCCTCCCCTCATCCTC CTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCCTTTCCTCCCCTCCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCTCCCCTCCCC CTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CTCCCCCTCCTCCCCTCCTCCCTCCCCTTCCTCCCCCTCCTCCCCTCCCC CTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCC CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCCTTCCCCTCCCCCT TCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCTCCC CTTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCCTTCCCT CCCTTCCCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(803): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAA GGGGAGGGGGAGAGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGAGGGGGAG GGGAGGAGGGGGAGGAAGGGGAGGGAGGAGGGGAGGAGGGGGAGGGAGGA GGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGG GAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGG AGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGG GGAGGAGGGGGAGGGGAGGGGGAGAGGGGAGGGGAGGGGGGAGGGGAGGG GAGGAGGGGAGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAG GAGGGGAGGGGAGGAGGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAG GGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGG AGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGG AGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAGGGAAG GGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAG GGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0184 a0004c0016t0001g0184	1	208	0.0048	810	c.279 others(825): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCC CCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCC CCTCCTCCCTCCCCTTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCTCTCCCCCTCCCCTTCCCCTCCCCCTTCCCCT CCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCC CCTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCCTTCCCT CCCTTCCCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NXN_chr17_794310_984776	841642	T T	TGACCACG others(803): Show TGACCACGGAGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGC ATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGG GCGAGCAGGTCCTCCCGACCATGGAGCATCTCACACCCGCGAGCAGGTCC TCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACGG AGCATCTCACACGGGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACGC CGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGG TCCCCCCTGACCACGGAGCATCTCACACCCGCGAGCAGGTCCCCCCGACC ACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCT CACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGA GCAGGTCCACCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCC CTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGA GCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACG GGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACCCACGGGCAGGT CCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCA CGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTC ACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACATGGGCGAG CAGGTCCCCCC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	242	0.0041	810	c.361 others(829): Show c.361-15565_361-15564insGGGGGGACCTGCTCGCCCATGTGAGA TGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGT CAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACC TGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTG TGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCC GTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCTCCGTGGTCAGGGGG GACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGC CCGTGTGAGATGCTCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGAT GCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTC AGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTG CTCGCGGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGT GAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCA TGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGGGGA CCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGG TGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGCGC CGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGG GGACCTGCCCGTGGGTGTGAGATGCTCCGTGGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(803): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCTGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCTGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	262	0.0038	810	c.129 others(827): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCAGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(803): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCTGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	262	0.0038	810	c.129 others(827): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCAG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CTTCCTCC others(803): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTC TTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCC TGTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC CCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTCT CCACCTTCCCCTCTCTCCCTCCCTCCCTCTCTCCACCTTCCCTCTCTCCA CCTCCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCA CCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	227	0.0044	810	c.23 others(821): Show c.2397_*2398insTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCT CTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCC TCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACC TCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCC CTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCAC CTCCCCTCCCTCTCTCCACCTTCCCCTCTCTCCCTCCCTCCCTCTCTCCA CCTTCCCTCTCTCCACCTCCCCTCCCTCTCTCCACCTCCCCTCTCTCCCT CCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(803): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACATTATACATTATTATATAAGTATATGTAATAC ATTATACATTATTATATAAGTATATGTAATATATATTATACATTATTATA TAAGTATATGTAATATATATTATACATTATTATATAAGCATATAATATAT AATACATAATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0040 a0001c0001t0011g0040	1	220	0.0046	810	c.24+ others(827): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACATTATACATTA TTATATAAGTATATGTAATACATTATACATTATTATATAAGTATATGTAA TATATATTATACATTATTATATAAGTATATGTAATATATATTATACATTA TTATATAAGCATATAATATATAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RABL6_chr9_136802948_136846187	136803235	C C	CCTCTTGG others(803): Show CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCC CAGGGCGGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	330	0.0030	810	c.-49 others(821): Show c.-4962_-4961insCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCTGGGGCCCCCCAGGGCGGGCT	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4712		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803280	G G	GCCGGGGG others(803): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	330	0.0030	810	c.-49 others(821): Show c.-4917_-4916insCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4667		chr9	TogoVar
RCBTB2_chr13_48483963_48538080	48527356	T T	TATATATA others(803): Show TATATATATGATATATATATATGATATATATATATGATATATATATATGA TATATATATATGATATATATATATGATATATATATATGATATATATATGA TATATATATATGATATATATATATGATATATATATATGATATATATATAT GATATATATATATGATATATATATATGATATATATATATGATATATATAT ATGATATATATATGATATATATATATGATATATATATATGATATATATAT ATGATATATATATATGATATATATATATGATATATATATATGATATATAT ATATGATATATATATATGATATATATATATGATATATATATATGATATAT ATATATGATATATATATGATATATATATGATATATATATGATATATATAT GATATATATATGATATATATATGATATATATATATGATATATATATATGA TATATATATATGATATATATATATGATATATATATATGATATATATATAT GATATATATATATGATATATATATGATATATATATGATATATATATGATA TATATGATATATATATGATATATATATGATATATATATGATATATATATA TGATATATATATGATATATATATATGATATATATATATGATATATATATA TGATATATATATGATATATATATATGATATATATATATGATATATATATA TGATATATATATATGATATATATATGATATATATATGATATATATATATG ATATATATATATGATATATATATATGATATATATATGATATATATATATG ATATATATATG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0061 a0001c0005t0002g0061	1	320	0.0031	810	c.-21 others(829): Show c.-218-2600_-218-2599insCATATATATATCATATATATATATCA TATATATATCATATATATATATCATATATATATATCATATATATATATCA TATATATATCATATATATATCATATATATATATCATATATATATATCATA TATATATATCATATATATATATCATATATATATCATATATATATATCATA TATATATATCATATATATATATCATATATATATCATATATATATATCATA TATATATCATATATATATCATATATATATCATATATATCATATATATATC ATATATATATCATATATATATCATATATATATATCATATATATATATCAT ATATATATATCATATATATATATCATATATATATATCATATATATATATC ATATATATATATCATATATATATCATATATATATCATATATATATCATAT ATATATCATATATATATCATATATATATCATATATATATATCATATATAT ATATCATATATATATATCATATATATATATCATATATATATATCATATAT ATATATCATATATATATATCATATATATATATCATATATATATATCATAT ATATATATCATATATATATATCATATATATATCATATATATATATCATAT ATATATATCATATATATATATCATATATATATATCATATATATATATCAT ATATATATATCATATATATATATCATATATATATATCATATATATATCAT ATATATATATCATATATATATATCATATATATATATCATATATATATATC ATATATATATATCATATATATATATCATATATAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RGN_chrX_47073443_47098313	47089400	A A	AATATATT others(803): Show AATATATTTATATTATATAATTATAATATTAATATAATATATTTATATTA TATAATTATAATATTAATATAATATATTTATATTATATAATTATAATTAT ATAATATATTTATATTATATAAATATAATATAATTATATAATATATTTAT ATTATATAAATATAATATAATTATATAATATAATTATATTATATAAATAT AATATAATTATATAATTATATAATATAATTATATTATATAAATATAATAA TATAATATAATTATATAAATATAATAATATAATATAATTATATAAATATA ATAATATAATATAATTATATAAATATAATAATATAATATAATAATATAAT ATAATATAATTATATTTTTATATAATATAATTATATTATATAATTATATA ATATAATATAATTATATTATGTAATTATATAATATAATATAATTATATTA TATTATATAATTACATAATATAATATAATTATATTATATAATTATATAAT ATAATATAATATAATTATATTATATAATTATATAATAAATATAATATAAT TATATTATATAATTATATTATAAATATAATATAATTATATTATATAATTA TATAATAAATATAATATAATTATATTATATAATTATATAATAAATATAAT ATAATTATATTATATAATATGATATAATATAATATAATATAATATAATAT AATTATATTATATAATTATATAATATAATATAATATAATTATATTATATG ATTATATATAATTACATAATATAATATAATATAATTATATTATATGATTA TATATAATTAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0097 a0001c0001t0008g0097	1	304	0.0033	810	c.347 others(825): Show c.347-370_347-369insTTATATTATATAATTATAATATTAATATAA TATATTTATATTATATAATTATAATATTAATATAATATATTTATATTATA TAATTATAATTATATAATATATTTATATTATATAAATATAATATAATTAT ATAATATATTTATATTATATAAATATAATATAATTATATAATATAATTAT ATTATATAAATATAATATAATTATATAATTATATAATATAATTATATTAT ATAAATATAATAATATAATATAATTATATAAATATAATAATATAATATAA TTATATAAATATAATAATATAATATAATTATATAAATATAATAATATAAT ATAATAATATAATATAATATAATTATATTTTTATATAATATAATTATATT ATATAATTATATAATATAATATAATTATATTATGTAATTATATAATATAA TATAATTATATTATATTATATAATTACATAATATAATATAATTATATTAT ATAATTATATAATATAATATAATATAATTATATTATATAATTATATAATA AATATAATATAATTATATTATATAATTATATTATAAATATAATATAATTA TATTATATAATTATATAATAAATATAATATAATTATATTATATAATTATA TAATAAATATAATATAATTATATTATATAATATGATATAATATAATATAA TATAATATAATATAATTATATTATATAATTATATAATATAATATAATATA ATTATATTATATGATTATATATAATTACATAATATAATATAATATAATTA TATTATATGATTATATATAATTACATATAT	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
RNF223_chr1_1065967_1079306	1076791	G G	GGGGTGGC others(803): Show GGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGCCGGGAGGCTGTCCGTGCCGGGAGGCTTGAGGCTATGGGGA CTCCAGTGGGGGGAGGACTGAGGCTATGTGGACCGGGGGGGAGGCTGCGG CTTGGACCGTGGGGGTGAGGCCGGCTTGGACCGTGGGGAGGCTGAGGCTA TGGGGACTCCGTGGGGGGAGCTGAGCTATGGGGACTCGTGGGGGGAGGCT GAGGCTATGGGACTCCGTGTGGGGGAGGCTGAGGCTATGGGACTTCCGTG GCCGGATGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGG GGACTCCGTGCGGGAGGTGAGGCTATGGGGACTCCGTGGCGGCGGAGGCT GAGGCTATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGTGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCG GGGAGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATG GGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGC TGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGT GGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATG GGACTCCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0051 a0001c0001t0022g0051	1	324	0.0031	810	c.-27 others(821): Show c.-2786_-2785insGCACGGAGTCCCATAGCCTCAGCCTCCCGGCACG GAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCC TCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCAT AGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACG GAGTCCCCATAGCCTCAGCCTCCTCCCCGCACGGAGTCCCCATAGCCTCA GCCTCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCC ATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCACCCCCAC GGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGC CACCCCCCACGGAGTCCCCATAGCCTCAGCCTCCGCCGCCACGGAGTCCC CATAGCCTCACCTCCCGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCAC GGAGTCCCCATAGCCTCAGCATCCGGCCACGGAAGTCCCATAGCCTCAGC CTCCCCCACACGGAGTCCCATAGCCTCAGCCTCCCCCCACGAGTCCCCAT AGCTCAGCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCACGGTCC AAGCCGGCCTCACCCCCACGGTCCAAGCCGCAGCCTCCCCCCCGGTCCAC ATAGCCTCAGTCCTCCCCCCACTGGAGTCCCCATAGCCTCAAGCCTCCCG GCACGGACAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCA CGGAGTCCCCATAGCCTCAGCCACCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2486		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078446	G G	GGCTGAGG others(803): Show GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTC CGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCT ATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCATCGGGGGA GGCTGAGGCTAGGGGGACTCCGTCGGGGGAGGCTGAGGCTATGGGGACTC CGTCGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCT ATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGA GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTC CGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGCGGGA GGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGTGGCT ATGGGGACTCCGTGCCGGGTGGCTGTGGCTATGGGGACTCCGTGCCGAGA GGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTC CGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGGCT ATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGA GGCTGAGGCTATGGGGACTCCGTGGGGGGACGCTGAGGCTATGGGGACTC CGTGGGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03540.hp2 HG01891.hp1 HG03540.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	2	324	0.0062	810	c.-44 others(821): Show c.-4441_-4440insGTCCCCCCACGGAGTCCCCATAGCCTCAGCGTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGC CTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCC CGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCATAGC CACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CGCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGC CTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAG TCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCTCCCCCGACGGAGTCCCCATAGCCTCAGCCTCC CCCGACGGAGTCCCCCTAGCCTCAGCCTCCCCCGATGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4141		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078476	G G	GGCTGAGG others(803): Show GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTC CGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCT ATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGGA GGCTGAGGCTAGGGGGACTCCGTCGGGGGAGGCTGAGGCTATGGGGACTC CGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCT ATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGA GGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTC CGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCT ATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGCGGGA GGCTGAGGCTATGGGGACTCCGTGGCGGGAGGCTGAGGCTATGGGGACTC CGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGTGGCT ATGGGGACTCCGTGCCGGGTGGCTGTGGCTATGGGGACTCCGTGCCGAGA GGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTC CGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGGCT ATGGGGACTCCGTTGGAGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGA GGCTGAGGCTATGGGGACTCCGTGGGGGGACGCTGAGGCTATGGGGACTC CGTGGGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	324	0.0031	810	c.-44 others(821): Show c.-4471_-4470insGTCCCCCCACGGAGTCCCCATAGCCTCAGCGTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGC CTCAGCCTCCTCCAACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTCC CGGCACGGAGTCCCCATAGACTCAGCCTCTCGGCACGGAGTCCCCATAGC CACAGCCACCCGGCACGGAGTCCCCATAGCCACAGCCACCCCGCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CGCCACGGAGTCCCCATAGCCTCAGCCTCCCGCCACGGAGTCCCCATAGC CTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCTCACGGAG TCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCTCCCCCAACGGAGTCCCCATAGCCTCAGCCTCC CCCGACGGAGTCCCCCTAGCCTCAGCCTCCCCCGACGGAGTCCCCATAGC CTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCACCCCTCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4171		chr1	TogoVar
ROBO2_chr3_77035099_77654964	77355126	C C	CGCATACA others(803): Show CGCATACACTAGGAGCTCTGTCACATACCTTTATGATCAACCCTTCCTCC CATCCGCATACCCTAGGAGCTCTATCACATACCTTTATGATCAACCCTTC TTCCCATCCGCATACCCCAGGAGCTCTATCACATACCTTTATGATCAACC CTTCCTGCCATCCCCATATCCTAGGAGTTCTATCATATACTTTTATGATC AACCCTTCTTCCCATCCGCATACCCTAGGAGCTCTGTCACATACCTTTAT GATCAACCCTTCCTCCCATCCCCATACCCTAGGAGTTCTATCACATACCT TTATGATCAACCCTTCTTCCCATCCACATACCCTAGGAGCTCTATCACAT ATATTTATGATCAACCCTTCCTCCCATCCGCATACCCCAGGAGCTCTATC ACATACCTTTATGATCAACCCTTCCTCCCATCCCCATACCCTAGGAGTTC TATCACATACCTTTATGATCAACCCTTCTTCCCATCCACATACCCTAGGA GCTCTATCACATATATTTATGATCAACCCTTCCTCCCATCCACATACCCC AGGAGCTCTATCACATATATTTATGATCAACCCTTCCTCCCATCCGCATA CCCCAGGAGCTCTATCACATACCTTTATGATCAACCCTTCCTCCCATCCC CATACCCTAGGAGTTCTATCACATACCTTTATGATCAACCCTTCCTCCCA TCCCCATACCCTAGGGGTTCTATCACATACCTTTATGATCAACCCTTCCT CCCATCCCCATACCCTAGGAGTTCTATCACATACCTTTATGATCAACTGT TCTTCCCATCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG02809.hp2 others(6): Show HG02451.hp1 HG02630.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG03486.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0011 a0008c0009 a0009c0007	a0001c0001t0013 a0001c0001t0025 a0001c0002t0002 others(6): Show a0001c0001t0013 a0001c0001t0025 a0001c0002t0002 a0001c0002t0021 a0001c0003t0001 a0001c0003t0007 a0002c0011t0002 a0008c0009t0002 a0009c0007t0002	a0001c0001t0013g0098 a0001c0001t0025g0078 a0001c0002t0002g0079 others(6): Show a0001c0001t0013g0098 a0001c0001t0025g0078 a0001c0002t0002g0079 a0001c0002t0021g0016 a0001c0003t0001g0138 a0001c0003t0007g0115 a0002c0011t0002g0080 a0008c0009t0002g0083 a0009c0007t0002g0088	9	160	0.0563	810	c.389 others(831): Show c.389-122288_389-122287insGCATACACTAGGAGCTCTGTCACA TACCTTTATGATCAACCCTTCCTCCCATCCGCATACCCTAGGAGCTCTAT CACATACCTTTATGATCAACCCTTCTTCCCATCCGCATACCCCAGGAGCT CTATCACATACCTTTATGATCAACCCTTCCTGCCATCCCCATATCCTAGG AGTTCTATCATATACTTTTATGATCAACCCTTCTTCCCATCCGCATACCC TAGGAGCTCTGTCACATACCTTTATGATCAACCCTTCCTCCCATCCCCAT ACCCTAGGAGTTCTATCACATACCTTTATGATCAACCCTTCTTCCCATCC ACATACCCTAGGAGCTCTATCACATATATTTATGATCAACCCTTCCTCCC ATCCGCATACCCCAGGAGCTCTATCACATACCTTTATGATCAACCCTTCC TCCCATCCCCATACCCTAGGAGTTCTATCACATACCTTTATGATCAACCC TTCTTCCCATCCACATACCCTAGGAGCTCTATCACATATATTTATGATCA ACCCTTCCTCCCATCCACATACCCCAGGAGCTCTATCACATATATTTATG ATCAACCCTTCCTCCCATCCGCATACCCCAGGAGCTCTATCACATACCTT TATGATCAACCCTTCCTCCCATCCCCATACCCTAGGAGTTCTATCACATA CCTTTATGATCAACCCTTCCTCCCATCCCCATACCCTAGGGGTTCTATCA CATACCTTTATGATCAACCCTTCCTCCCATCCCCATACCCTAGGAGTTCT ATCACATACCTTTATGATCAACTGTTCTTCCCATCT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77355126	C C	CGCATACC others(803): Show CGCATACCCTAGGAGCTCTATCACATACCTTTATGATCAACCCTTCTTCC CATCCGCATACCCCAGGAGCTCTATCACATACCTTTATGATCAACCCTTC CTGCCATCCCCATATCCTAGGAGTTCTATCATATACTTTTATGATCAACC CTTCTTCCCATCCGCATACCCTAGGAGCTCTGTTACATACCTTTATGATC AACCCTTCCTCCCATCCCCATACCCTAGGAGTTCTATCACATACCTTTAT GATCAACCCTTCTTCCCATCCACATACCCTAGGAGCTCTATCACATATAT TTATGATCAACCCTTCCTCCCATCCGCATACCCCAGGAGCTCTATCACAT ACCTTTATGATCAACCCTTCCTCCCATCCCCATACCCTAGGAGTTCTATC ACATACCTTTATGATCAACCCTTCTTCCCATCCACATACCCTAGGAGCTC TATCACATATATTTATGATCAACCCTTCCTCCCATCCGCATACCCCAGGA GCTCTATCACATATATTTATGATCAACCCTTCCTCCCATCCGCATACCCC AGGAGCTCTATCACATACCTTTATGATCAACCCTTCCTCCCATCCCCATA CCCTAGGAGTTCTATCACATACCTTTATGATCAACCCTTCCTCCCATCCC CATACCCTAGGGGTTCTATCACATACCTTTATGATCAACCCTTCCTCCCA TCCCCATACCCTAGGAGGTCTATCACATATCTTTATGATCAACCCTTCCT CCCATCCCCATACCCCAGGAGTTCTATCACATACCTTTATGATCAACTGT TCTTCCCATCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0005 a0005c0013t0005	a0005c0013t0005g0106 a0005c0013t0005g0106	1	160	0.0063	810	c.389 others(831): Show c.389-122288_389-122287insGCATACCCTAGGAGCTCTATCACA TACCTTTATGATCAACCCTTCTTCCCATCCGCATACCCCAGGAGCTCTAT CACATACCTTTATGATCAACCCTTCCTGCCATCCCCATATCCTAGGAGTT CTATCATATACTTTTATGATCAACCCTTCTTCCCATCCGCATACCCTAGG AGCTCTGTTACATACCTTTATGATCAACCCTTCCTCCCATCCCCATACCC TAGGAGTTCTATCACATACCTTTATGATCAACCCTTCTTCCCATCCACAT ACCCTAGGAGCTCTATCACATATATTTATGATCAACCCTTCCTCCCATCC GCATACCCCAGGAGCTCTATCACATACCTTTATGATCAACCCTTCCTCCC ATCCCCATACCCTAGGAGTTCTATCACATACCTTTATGATCAACCCTTCT TCCCATCCACATACCCTAGGAGCTCTATCACATATATTTATGATCAACCC TTCCTCCCATCCGCATACCCCAGGAGCTCTATCACATATATTTATGATCA ACCCTTCCTCCCATCCGCATACCCCAGGAGCTCTATCACATACCTTTATG ATCAACCCTTCCTCCCATCCCCATACCCTAGGAGTTCTATCACATACCTT TATGATCAACCCTTCCTCCCATCCCCATACCCTAGGGGTTCTATCACATA CCTTTATGATCAACCCTTCCTCCCATCCCCATACCCTAGGAGGTCTATCA CATATCTTTATGATCAACCCTTCCTCCCATCCCCATACCCCAGGAGTTCT ATCACATACCTTTATGATCAACTGTTCTTCCCATCT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27			chr3	TogoVar
RPA3_chr7_7631518_7723607	7679038	T T	TATAAATA others(803): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0288 a0001c0001t0012g0288	1	308	0.0033	810	c.-75 others(829): Show c.-758+6791_-758+6792insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCT ATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAAT ATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACT AAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATATT TATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATA TAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCTAT AAATTAAATATATAAATATATTTATCTATAAATTAAATATATAAATATAT ATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAAT ATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATC TATAAATTAAATATATAAATATGTATTTATAAACTAAATATATAAATATG TATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAAA TATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAAA TATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAAA TATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAAA TATATATTTATAAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	221692	C C	CTGAGACA others(803): Show CTGAGACAATAGACCCAAGAACAACAGCTCTGAGGCCTCCACTCACTGAG ACAATAGACCCAAGCACAACATCTCTGAGGCCTCCACTCACTGGGACAAC AGACCCAAGCGCATCAGCTCTGAGGCCTCCACTCACTGAGACAATAGACC CAAGAACAACAGCTCTGAGGCCTCCACTCGGTGAGACAATAGACCCAAGC ACAACAGCTCTGAGGCCGCCACTCACTGAGACAATAGACCCAAGCACAAC AGCTCTGAGGCCGCCACTCACTGAGACAATAGACCCAAGCACAACAGCTC TGAGGCCGCCACTCACTGAGATAATAGACCCAAGCACATCGGCTCTGAGG CCTCCACTCGGTGAGACAATAGACCCAAGCACAACAGCTCTGAGGCCGCC ACTCACTGAGACAATAGAACCAAGCACAACAGCTCTGAGGCCGCCACTCA CTGAGACAATAGACCCAAGCACAACAGCTCTGAGGCCTCCACTCGGTGAG ACAATAGACCCAAGCACATCAGCTCTCAGGCCTCCACTCGGTGAGACAAT AGACCCAAGCACATCAGCTCTCAGGCCTCCACTCACTGAGACAATAGACC CAAGAACAACAGCTCTGAGGCCTCCACTCACTGAGACAATAGGCCCAAGC ACAACAGCTCTGAGGCCTCCACTCACTGAGACAATAGACCCAAGCACAAC AGCTCTGAGGCCTCCACTCACTGAGACAATAGACCCAAGCACATCAGCTC TGAGGCCTCCACTCGGTGAGACAATAGACCCAAGCACATCAGCTCTCAGG CCTCCACTCGG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA20805.hp1 NA18959.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0015 a0001c0001t0012 a0001c0001t0015	a0001c0001t0012g0053 a0001c0001t0015g0036 a0001c0001t0012g0053 a0001c0001t0015g0036	2	133	0.0150	810	c.614 others(827): Show c.614-1957_614-1956insCCGAGTGGAGGCCTGAGAGCTGATGTGC TTGGGTCTATTGTCTCACCGAGTGGAGGCCTCAGAGCTGATGTGCTTGGG TCTATTGTCTCAGTGAGTGGAGGCCTCAGAGCTGTTGTGCTTGGGTCTAT TGTCTCAGTGAGTGGAGGCCTCAGAGCTGTTGTGCTTGGGCCTATTGTCT CAGTGAGTGGAGGCCTCAGAGCTGTTGTTCTTGGGTCTATTGTCTCAGTG AGTGGAGGCCTGAGAGCTGATGTGCTTGGGTCTATTGTCTCACCGAGTGG AGGCCTGAGAGCTGATGTGCTTGGGTCTATTGTCTCACCGAGTGGAGGCC TCAGAGCTGTTGTGCTTGGGTCTATTGTCTCAGTGAGTGGCGGCCTCAGA GCTGTTGTGCTTGGTTCTATTGTCTCAGTGAGTGGCGGCCTCAGAGCTGT TGTGCTTGGGTCTATTGTCTCACCGAGTGGAGGCCTCAGAGCCGATGTGC TTGGGTCTATTATCTCAGTGAGTGGCGGCCTCAGAGCTGTTGTGCTTGGG TCTATTGTCTCAGTGAGTGGCGGCCTCAGAGCTGTTGTGCTTGGGTCTAT TGTCTCAGTGAGTGGCGGCCTCAGAGCTGTTGTGCTTGGGTCTATTGTCT CACCGAGTGGAGGCCTCAGAGCTGTTGTTCTTGGGTCTATTGTCTCAGTG AGTGGAGGCCTCAGAGCTGATGCGCTTGGGTCTGTTGTCCCAGTGAGTGG AGGCCTCAGAGATGTTGTGCTTGGGTCTATTGTCTCAGTGAGTGGAGGCC TCAGAGCTGTTGTTCTTGGGTCTATTGTCTCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743955	A A	ACTAGCAC others(803): Show ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACTGTCCT GGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAG CCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTAC TAGCAGAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGG CTACTAGCAGAGCCCTGGCTACTAGCAGAGCCCTGGTTACTAGCACAGCC CTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCAC TATCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTA GCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCT GGTTACTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAG CCCTGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG TTACTAGCACTGTCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGCC CTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0091 a0001c0091	a0001c0091t0016 a0001c0091t0016	a0001c0091t0016g0166 a0001c0091t0016g0166	1	196	0.0051	810	c.655 others(829): Show c.655-10048_655-10047insTGTCCTGGTTACTAGCACAGCCCTGG TTGCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACGA GCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATCCTGGTT ACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCAGAGCCCT GGTTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGAG CCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG TTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGTAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTGCTAGCACAGCCCT GGTTACTAGCACAGCCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTG TCCTGGCTACTAGCACAGCCCTGGTTGCTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744497	T T	TAGCACAG others(803): Show TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG TTGCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACGA GCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATCCTGGTT ACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCAGAGCCCT GGTTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGAG CCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG TTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGTAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTGCTAGCACAGCCCT GGTTACTAGCACAGCCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTG TCCTGGTTACG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0076 a0001c0006t0076	a0001c0006t0076g0192 a0001c0006t0076g0192	1	196	0.0051	810	c.655 others(827): Show c.655-9508_655-9507insAGCCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCACAGCCCT GGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTAC TAGCACTATCCTGGTTACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGG CTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACAGCC CTGGTTACTAGCAGAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTA TCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGG TTGCTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGTACAGCC CTGGCTACTAGCACTGTCCTGGTTACGAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SCAMP4_chr19_1900399_1931013	1923912	A A	ACCGTGCC others(803): Show ACCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCAT GTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGAGAGTCTGTCCGCCTC GGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGCCACCGTGCCCGGCCTA TTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGT CTCGAACTCCAGAGCTCAGAGAGTCTGTCTGCCTCGGCCTCCCGAAGTGC TGGGATGACAGGCGTGAGCCACCGTGCCCGGCCTATTTTTTATATTGTAG TAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGC TCAGAGAGTCTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGT GAGCCACCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTC ACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCC GCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCG GCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGA CTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCTGCCTCGGCCTCCCGA AGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATAT TGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCC AGAGCTCAGACAGTCTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGACA GGCGTGAGTCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0387 a0001c0001t0019g0387	1	442	0.0023	810	c.514 others(825): Show c.514-112_514-111insGAGTCTGTCCGCCTCGGCCTCCCGAAGTGC TGGGATGACAGGCGTGAGCCACCGTGCCCGGCCTATTTTTTATATTGTAG TAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGC TCAGAGAGTCTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGT GAGCCACCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTC ACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGAGAGTCTGTCT GCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGCCACCGTGCCCG GCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGA CTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCCGCCTCGGCCTCCCGA AGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATAT TGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCC AGAGCTCAGACAGTCTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGACA GGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGG GTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTC TGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGT GCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGT TTGGACTGGTCTCGAACTCCAGAGCTCAGA	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(803): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATTCCATATAT ATATATTCCAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	324	0.0031	810	c.115 others(827): Show c.115-2573_115-2572insATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATGG AATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SERINC2_chr1_31408213_31439678	31431777	A A	ATAGGGTG others(803): Show ATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGT GGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGACA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGATAGGGTG GACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGATAGGGTGGACAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA CAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGTTAGAGTGGACAGGGTGGATAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACA GGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTG GACAGGGTGGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0058 a0001c0005t0002g0058	1	376	0.0027	810	c.101 others(829): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGACAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGA GAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGTTAGAGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTT AGAGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGAGTG GATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGACAGG GTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431994	T T	TAGGGTGG others(803): Show TAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAG GGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGAT AGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTA GGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTG GACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAG GGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0102 a0002c0017t0001g0102	1	376	0.0027	810	c.101 others(827): Show c.1014-966_1014-965insTTAGGGTGGATAGGGTGGATAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGT GGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGG GTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGG TGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGTTAGGGT GGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432038	A A	ATAGGGTG others(803): Show ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATA GGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAG GGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGG ACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGA TAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAG AGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAGAGGGT GGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTA GGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0193 a0001c0004t0003g0193	1	376	0.0027	810	c.101 others(827): Show c.1014-929_1014-928insTAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGT GGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGG TTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGG TGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAC AGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGTTAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAG GGTGGACAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGACAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SERPINF2_chr17_1737871_1760265	1740168	A A	AGCCTGAT others(803): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCACAGGACAGTGAGGGTGGGAAGTGGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCC GGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACA GTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCT GATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGT AGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAG GCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCA GGACAGTCAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACA GTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	445	0.0023	810	c.-27 others(821): Show c.-2745_-2744insGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCACAGGACAGTGAGGGTGG GAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGA GTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GCGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCA GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACA GTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGG GAAGGAGCCTGATGTAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAGCAGGACAGTCAGGGTGGGAGGCGGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2702		chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(803): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATGTAATA TATATTATATTTTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATATTATATATTATAATAT ATAATATATATTACATATTATAATATATAATATATTATATTTTATAATAT ATATAAAATATAATATATTATATTTTATAATATATAATATATTATATTTT ATAATATATAATATATTATATTTTATAATATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTTTATAATATATAA TATATTATATTTTATATTATATAAGATATTATATTTTATAATATATAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATTTTATATATATTATAAAATATAATATATTATATTTTATAATATA TAATATATCTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	340	0.0029	810	c.17 others(829): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATCTTATATAATATAAAATATAATATATTATATATTATAAAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATATTATAAAATATAATATATTATATATTATAAAATATAATATATT ATATATTATAAAATATAATATATTATATTTTATATATATTATAAAATATA ATATATTATATATTATAATATGTAATATATATTATATATTATAATATATA ATATATATTATATATTATAATATGTAATATATATTATATATTATAATATA TAATATATATTATATATTATAATATATAATATATATTATATATTATAATA TATAATATATATTATATATTATAAAATATAATATATATTACATATTATAA AATATAATATATATTACATATTATAAAATATAATATATTATATATTATAA AATATAATATATATTACATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAATA TATAATATATTATATATTATAATATATAATATATATTATATATTATAATA TATAATATATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNTG2_chr2_945849_1372613	1221592	C C	CTCTGCCT others(803): Show CTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGT CTCTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCT CTGCATCTGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGC TTCTCTCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCT CTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCT GTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCT CTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCT CTGTCTCTCTCTGTCTCTGCATCTGCCTCTCTCTGTCTCTCTGTCTCTGT CTCTCTCTGTCTCTGCTTCTCTCTGTCTCTCTCTTTGTCCCTCTCTGTCT CTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCT GTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGC CTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTTTCA GTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGTCTCT GCCTCTCTCTGTCTCTGTCTGTGTCTCTCTCTGTCTCTGCCTATCTCTGT CTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTCTCTGTCTCTCT CTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCT GTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0001 a0003c0026t0001	a0003c0026t0001g0097 a0003c0026t0001g0097	1	190	0.0053	810	c.719 others(829): Show c.719+12362_719+12363insTCTGCCTCTGTCTCTGCCTCTCTCTG TGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGT TTTGTCTCTGTCTCTCTCTGTCTCTGCATCTGCCTCTCTCTGTCTCTCTG TCTCTGTCTCTCTCTGTCTCTGCTTCTCTCTGTCTCTCTCTTTGTCCCTC TCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTC CCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTG TCTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTC CCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCATCTGCC TCTCTCTGTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGCTTCTCTCTGTC TCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGC TCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTC GCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCC TCTGTCTCTCTCTGTCCCTTTCAGTCTCTGGTTTTGTCTCTGTCTCTCTC TGTCTCTGCCTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTGTGTCTC TCTCTGTCTCTGCCTATCTCTGTCTCTGTCTCTCTCTGTCTCTGCCTATC TCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTC TGTCTCTGCCTATCTCTGTCTCTGTCTCTCTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
TMEM120B_chr12_121707752_121787068	121747269	G G	GCTGGGGT others(803): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	314	0.0032	810	c.189 others(827): Show c.189-1044_189-1043insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAAAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGCGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125410099	G G	GGAGTGAG others(803): Show GGAGTGAGTGGAGTGAGTGGAGTGGAGTGGAGTGGAGGAGTGGAGTGAGT GGAGTGGAGTGGAGTGGAGTGAGTGGAGTGAGTGGAGTGGAGGAGTAGAG TGGAGTGGAGTGGAGTGGAGTGAGTGGAGTGGAGTGGAGGAGTGGAGTGG AGTGGAGTGGAGTGGAGTGAGTGGAGTGGAGTGGAGTGAGTGGAGTGGAG TGGAGTGGAGGAGTGGAGTGGAGTGGAGGAGTGGAATGGAGTGGAGTGAG TGGAGTGGAGTGGAGTGATGGAGTGGAGTGAGTGGAGTGGAGTGAGTGGA GTGGAGTGGAGTGGAGTGGAGTGAGTGGAGTGGAGTGGAGGAGTGGAGTG GAGTGGAGTGAGTGGAGTGGAGTGGAGTGAGTGAGTGGAGTGGAGTGGAG TGAGTGGAGTGGAGTGAGTGGAGTGGAGTGGAGTGAGTGGAGTGGAGTGA GTGGAGTGGAGTGGAGTGAGTGGAGTGGAGTGGAGGAGTGGAGTGGAGTG GAGTGAGTGGAGTGGAGTGAGTGAGTGGAGTGAGTGGAGTGGAGTGGAGT GAGTGGAGTGGAGTGGAGGAGTGGAGTGGAGTGAGTGGAGTGGAGTGGAG TGAGTGAGTGGAGTGGAGTGAGTGGAGTGGAGTGGAGTGAGTGGAGTGAG TGGAGTGGAGTGGAGGAGTGGAGTGGAGTGGAGTGAGTGGAGTGGAGTGG AGTGAGTGGAGTGGAGTGGAGTGGAGGAGTGGAGTGGAGTGGAGTGGAGT GAGTGGAGTGGAGTGAGTGGAGTGGAGTGGAGTGGAGTGAGTGGAGTGGA GTGGAGTGAGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03195.hp2 HG03453.hp2 HG02486.hp1 HG03195.hp2 HG03453.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0009 a0002c0001 a0004c0009	a0002c0001t0007 a0002c0001t0037 a0004c0009t0028 a0002c0001t0007 a0002c0001t0037 a0004c0009t0028	a0002c0001t0007g0122 a0002c0001t0037g0093 a0004c0009t0028g0059 a0002c0001t0007g0122 a0002c0001t0037g0093 a0004c0009t0028g0059	3	128	0.0234	810	c.960 others(827): Show c.960-5427_960-5426insAGTGGAGTGAGTGGAGTGGAGTGGAGTG GAGGAGTGGAGTGAGTGGAGTGGAGTGGAGTGGAGTGAGTGGAGTGAGTG GAGTGGAGGAGTAGAGTGGAGTGGAGTGGAGTGGAGTGAGTGGAGTGGAG TGGAGGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGAGTGGAGTGGAGTGG AGTGAGTGGAGTGGAGTGGAGTGGAGGAGTGGAGTGGAGTGGAGGAGTGG AATGGAGTGGAGTGAGTGGAGTGGAGTGGAGTGATGGAGTGGAGTGAGTG GAGTGGAGTGAGTGGAGTGGAGTGGAGTGGAGTGGAGTGAGTGGAGTGGA GTGGAGGAGTGGAGTGGAGTGGAGTGAGTGGAGTGGAGTGGAGTGAGTGA GTGGAGTGGAGTGGAGTGAGTGGAGTGGAGTGAGTGGAGTGGAGTGGAGT GAGTGGAGTGGAGTGAGTGGAGTGGAGTGGAGTGAGTGGAGTGGAGTGGA GGAGTGGAGTGGAGTGGAGTGAGTGGAGTGGAGTGAGTGAGTGGAGTGAG TGGAGTGGAGTGGAGTGAGTGGAGTGGAGTGGAGGAGTGGAGTGGAGTGA GTGGAGTGGAGTGGAGTGAGTGAGTGGAGTGGAGTGAGTGGAGTGGAGTG GAGTGAGTGGAGTGAGTGGAGTGGAGTGGAGGAGTGGAGTGGAGTGGAGT GAGTGGAGTGGAGTGGAGTGAGTGGAGTGGAGTGGAGTGGAGGAGTGGAG TGGAGTGGAGTGGAGTGAGTGGAGTGGAGTGAGTGGAGTGGAGTGGAGTG GAGTGAGTGGAGTGGAGTGGAGTGAGTGAGTG	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2418724	T T	TTCCCTCC others(803): Show TTCCCTCCCTCCCTTTCCTTCCCTGCCTTCCCTTCCTCCCTTTCCTTCCC TTCCTTCCCTCCCTCCCTCCCCTTCCCTCCCTACCTTTCCTTCCCTTCTC TCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCATTCCCTCCCTCCCT TTCCTCCCCTTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCC TTCCCTCCATCCCTTTCCTTCCCTTCCCTTCCCTCCCTCCCTTTCCTTTC CTTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTCTTTCCTT CCCTGCCTTCCCTCCCTACCTCCCCTGCCTTCCCTCCCTACCTCCCCTTC CCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCTC CTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTT CCTTCCCTCCCTACGTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTT CCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCT TCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCC TCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCCCTTCC CACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCCCTTCC CTCCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCTCCCTT TCCTTCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTTCCTTCCCTC CCTCCCTTTCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG00738.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0006 a0001c0001t0001g0007	2	114	0.0175	810	c.215 others(827): Show c.2154+587_2154+588insCCCTCCCTCCCTTTCCTTCCCTGCCTTC CCTTCCTCCCTTTCCTTCCCTTCCTTCCCTCCCTCCCTCCCCTTCCCTCC CTACCTTTCCTTCCCTTCTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCC CTTTCATTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTCC CCTTCCCTCCCTCCCTTTCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTT CCCTCCCTCCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTT CCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCT TCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTC CCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCT TCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCC TCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCC CACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCC CCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTC CCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTC CCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTTCCTTCCCCCATCCC TTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTCCC TCCCTCTCCTTCCTTCCCTCCCTCCCTTTCCT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRDN_chr6_123211339_123641950	123326482	T T	TTAAAATA others(803): Show TTAAAATATTATCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTG CGCTGCACCCACTAACGTGTCATCTAGCATTAGGTATATCTCCCAATGCT ATCCCTCCCCCCTCCCCCAACCCCACCACAGTCCCCAGAGTGTGATATTC CCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGA GAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGA TGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTT TTTATGGCTGCATAGTATTCCATAGTGTATATGTGCCACATTTTCTTAAT CCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTG TGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTAGAGCAGCAT GATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAA TGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACA ATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATT TCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGC CATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTT CTCTGATGGCCAGTGATGATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAATTAAAAAAAAAAAA AATAAATAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0104 a0004c0007t0004g0104	1	152	0.0066	810	c.147 others(829): Show c.1471+5396_1471+5397insTTTTATTTATTTTTTTTTTTTTTAAT TTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATT GTGCAGGTTAGTTACATCATCACTGGCCATCAGAGAAATGCAAATCAAAA CCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAG TCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTT ACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGT GGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATC CCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTCTAAAGA CACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTT GGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGG CACATATACACTATGGAATACTATGCAGCCATAAAAAATGATGAGTTCAT GTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAAC TATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGG AATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTG GGGACTGTGGTGGGGTTGGGGGAGGGGGGAGGGATAGCATTGGGAGATAT ACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACA TGTATACATATGTAACTAACCTGATAATATTTTA	TRDN	ENSG00000186439.15	transcript	ENST00000334268.9	protein_coding	23/40			chr6	TogoVar
TRDN_chr6_123211339_123641950	123326482	T T	TTAAAATA others(803): Show TTAAAATATTATCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTG CGCTGCACCCACTAACGTGTCATCTAGCATTAGGTATATCTCCCAATGCT ATCCCTCCCCCCTCCCCCAACCCCACCACAGTCCCCAGAGTGTGATATTC CCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGA GAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGA TGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTT TTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAAT CCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTG TGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTAGAGCAGCAT GATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAA TGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACA ATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATT TCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGC CATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTT CTCTGATGGCCAGTGATGATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAATTAAAAAAAAAAAA AATAAATAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0012 a0009c0011t0012	a0009c0011t0012g0098 a0009c0011t0012g0098	1	152	0.0066	810	c.147 others(829): Show c.1471+5396_1471+5397insTTTTATTTATTTTTTTTTTTTTTAAT TTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATT GTGCAGGTTAGTTACATCATCACTGGCCATCAGAGAAATGCAAATCAAAA CCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAG TCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTT ACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGT GGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATC CCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTCTAAAGA CACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTT GGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGG CACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCAT GTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAAC TATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGG AATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTG GGGACTGTGGTGGGGTTGGGGGAGGGGGGAGGGATAGCATTGGGAGATAT ACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACA TGTATACATATGTAACTAACCTGATAATATTTTA	TRDN	ENSG00000186439.15	transcript	ENST00000334268.9	protein_coding	23/40			chr6	TogoVar
TRDN_chr6_123211339_123641950	123326482	T T	TTAAAATA others(803): Show TTAAAATATTATCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTG CGCTGCACCCACTAACGTGTCATCTAGCATTAGGTATATCTCCCAATGCT ATCCCTCCCCCCTCCCCCAACCCCACCACAGTCCCCAGAGTGTGATATTC CCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGA GAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGA TGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTT TTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAAT CCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTG TGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTAGAGCAGCAT GATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAA TGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACA ATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATT TCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGC CATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTT CTCTGATGGCCAGTGATGATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAATTAAAAAAAAAAAAA AATAAATAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02895.hp2 HG02897.hp1 HG02109.hp2 HG02895.hp2 HG02897.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0091 a0005c0006t0001g0092 a0005c0006t0001g0101 a0005c0006t0001g0091 a0005c0006t0001g0092 a0005c0006t0001g0101	3	152	0.0197	810	c.147 others(829): Show c.1471+5396_1471+5397insTTTTATTTATTTTTTTTTTTTTTTAA TTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATT GTGCAGGTTAGTTACATCATCACTGGCCATCAGAGAAATGCAAATCAAAA CCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAG TCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTT ACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGT GGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATC CCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTCTAAAGA CACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTT GGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGG CACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCAT GTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAAC TATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGG AATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTG GGGACTGTGGTGGGGTTGGGGGAGGGGGGAGGGATAGCATTGGGAGATAT ACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACA TGTATACATATGTAACTAACCTGATAATATTTTA	TRDN	ENSG00000186439.15	transcript	ENST00000334268.9	protein_coding	23/40			chr6	TogoVar
TRDN_chr6_123211339_123641950	123326482	T T	TTAAAATA others(803): Show TTAAAATATTATCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTG CGCTGCACCCACTAACGTGTCATCTAGCATTAGGTATATCTCCCAATGCT ATCCCTCCCCCCTCCCCCAACCCCACCACAGTCCCCAGAGTGTGATATTC CCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGA GAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGA TGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTT TTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAAT CCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTG TGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTAGAGCAGCAT GATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAA TGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACA ATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATT TCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGC CATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTT CTCTGATGGCCAGTGATGATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAGTATAATAAAAAAAAAAAAAATTAAAAAAAAAAAAAA ATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0004 a0009c0011t0004	a0009c0011t0004g0131 a0009c0011t0004g0131	1	152	0.0066	810	c.147 others(829): Show c.1471+5396_1471+5397insTTTTATTTTATTTTTTTTTTTTTTTA ATTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATT GTGCAGGTTAGTTACATCATCACTGGCCATCAGAGAAATGCAAATCAAAA CCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAG TCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTT ACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGT GGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATC CCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTCTAAAGA CACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTT GGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGG CACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCAT GTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAAC TATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGG AATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTG GGGACTGTGGTGGGGTTGGGGGAGGGGGGAGGGATAGCATTGGGAGATAT ACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACA TGTATACATATGTAACTAACCTGATAATATTTTA	TRDN	ENSG00000186439.15	transcript	ENST00000334268.9	protein_coding	23/40			chr6	TogoVar

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Search Results (Total: 7053 hits)