Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(884): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG04204.hp2 NA18941.hp1 others(1): Show HG01169.hp1 HG04204.hp2 NA18941.hp1 NA19083.hp1	a0001 a0021 a0001 a0021	a0001c0002 a0021c0042 a0001c0002 a0021c0042	a0001c0002t0001 a0021c0042t0001 a0001c0002t0001 a0021c0042t0001	a0001c0002t0001g0093 a0001c0002t0001g0114 a0001c0002t0001g0123 others(1): Show a0001c0002t0001g0093 a0001c0002t0001g0114 a0001c0002t0001g0123 a0021c0042t0001g0144	4	208	0.0192	891	c.282 others(910): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTT GTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA CTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACA AAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTA TACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCT TGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACA GTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(884): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0125 a0002c0001t0001g0125	1	208	0.0048	891	c.282 others(910): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTT GTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA CTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACA AAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTA TACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCT TGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACA GTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
FHIT_chr3_59742277_61256452	60551574	G G	GAGGGGAG others(884): Show GAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGG GAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGG GGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGAGAGG GGAAGGGGAGGGGAGAGGAGGGGGAAGGGGAGGGGAGAGGAGGGGGGAGG GGAAGAAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGAGGGGAGGGGA GGGGAGGGGGAGGGGGGAGGAGGGGAGGAGGGGTGGGGGGAGGGTGGAAG GGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGAGGGGAGCGGGGAGGAGG GGAGGGGGAGGAGGGGAGGGGAGGGGAGGGGAGCGGGGAGGAGGGGAGGG GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGGGGAGGGGGAGGAGGGG AGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGAGGGGAGGGGGGGAAGGGAGGGGGAGGAGGGG GGAGTAGGGGAGGGGAGGGGGAGGAGGGGGGAGGAGGAGGGGAGGAGGGG AGGGGAGGGGGAGGAGGGGGGAGGAGGGGGAGGAGGGGAGGGGAGGGGGA GGAGGGGGGGAGGAGGGGGAGGAGGGGAGGGGGAGGGGGAGGAGGGGAGG AGAGGGGGAGGAGGGGGGAGGAGGGGGGAGGGGGGGGAGGAGGGGGGAGG AGGGGGGAGGAGGGGAGGGGGAGGAGGAGAGGGGAGGGGGAGGAGGGGAG GGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGGA GGAGGGGAGGGGAGGGGGAGGAGGGGGGAGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0018 a0001c0001t0010g0018	1	46	0.0217	891	c.-17 others(910): Show c.-17-14596_-17-14595insTCCCCTCCCCTCCTCCCCCCTCCTCC CCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCC CTCCTCCCCCTCCCCCCTCCCCTCCTCCCCCTCCCCTCTCCTCCTCCCCC TCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCTCC CCCCTCCTCCCCCTCTCCTCCCCTCCTCCCCCTCCCCCTCCCCTCCTCCC CCTCCTCCCCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCTCCCCC CTCCTCCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCCCCCCTCCTCCCCC TCCCCTCCCCTACTCCCCCCTCCTCCCCCTCCCTTCCCCCCCTCCCCTCC TCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCCCCTC CCCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCTCCT CCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCTCCCCT CCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCTCCCCTCCCCTC CTCCCCCTCCCCTCCCCTTCCACCCTCCCCCCACCCCTCCTCCCCTCCTC CCCCCTCCCCCTCCCCTCCCCTCCCCTCCTCCCCTCTCCTCCCCTCCCCT CTCCTCCCCTTCTTCCCCTCCCCCCTCCTCTCCCCTCCCCTTCCCCCTCC TCTCCCCTCCCCTTCCCCTCTCCTCCTCCCCTCCCCTTCTTCCCCTCCCC TCCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCC TTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCC CTCCTCCCCTCCCCT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	4/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	60551574	G G	GAGGGGAG others(884): Show GAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGGAGGGGAGGGGAGGAGGG GAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGG GGAGGGGAGGAGGAGAGGGGAAGGGGAAGGGAGAGGAGGGGGGAGGGGAA GAAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGAGGGGAGGGGAGGGG AGGGGGAGGGGGGAGGAGGGGAGGAGGGGTGGGGGGAGGGTGGAGGGGGA GGGGAGGGGGAGGAGGGGAGGGGAGGGGAGGGGAGCGGGGAGGAGGGGAG GGGGAGGAGGGGAGGGAAGGGGAGGGGAGCGGGGAGGAGGGGAGGGGGAG GAGGGGAGGGGGAGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGG GGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGA GGGGAGGGGGAGGGGGAGGAGGGGAGGGGGGAAGGGAGGGGGAGGAGGGG GGAGTAGGGGAGGGGGGGGAGGAGGGGGGAGGAGGAGGGGAGGAGGGGAG GGGAGGGGGAGGAGGGGGGAGGAGGGGGAGGAGGGGAGGGGAGGGGGAGG AGGGGGGGAGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGAGGGGA GGGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGGGAGGAG GGGGGAGGAGGGGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGAGGGGG AGGAGGGGAGGGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGAG GGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGGA GGAGGGGAGGGGAGGGGGAGGAGGGGGGAGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	46	0.0217	891	c.-17 others(910): Show c.-17-14596_-17-14595insTCCCCTCCCCTCCTCCCCCCTCCTCC CCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCC CTCCTCCCCCTCCCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCC TCCCCCCTCCCCTCCTCCCCCTCCCCCCTCCCCTCCTCCCCCTCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTC CCCCTCCTCCCCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCTCCC CCCTCCTCCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCCCCCCTCCTCCC CCCCCTCCCCTACTCCCCCCTCCTCCCCCTCCCTTCCCCCCTCCCCTCCT CCCCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCT CCCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC TCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCTT CCCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCTCCCCTCC CCTCCTCCCCCTCCCCTCCCCCTCCACCCTCCCCCCACCCCTCCTCCCCT CCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCTCCCCTCTCCTCCCCTC CCCTCTCCTCCCCTTCTTCCCCTCCCCCCTCCTCTCCCTTCCCCTTCCCC TCTCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCC TTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTTCCCCTCCCCTCCC CTCCTCCCCTCCCCT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	4/9			chr3	TogoVar
GALNT9_chr12_132191372_132334589	132241387	A A	AACACACA others(884): Show AACACACACTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACAC CCTTTCAGGGGCCCTCCCTATCCCCATTACACACACGCCACACCCCCTTC CAGGGGCCCTCCCTATACCCATTTACACACACGCCACACCCCCTTCCCGG GGCCCTCCCTATACCCATTACACACACAACACACACTTCCCGGGGCCCTC CCTATACCCATTACACACACAACACACCCTTCCAGGGGCCCTCCCTATCC CCATTACACACACGCCACACCCCCTTCCAGGGGCCCTCCCTATACCCATT ACACACACAACACACACTTCCCGGGGCCCTCCCTATACCCATTACACACA CGCCACACCCCCTTCCCGGGGCCCTCCCTATCCCCATTACACACACGCCA CACCCCCTTCCCGGGGCCCCCCCATACCCATTACACACACACCACACACC CTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCC AGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCAGGG CCGTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTC CCTATACACATTACACACACACCACACCCCCTTCCCAGGGCCCTCCCTAT CCCCATTACACACACACCACACCCCCTTCCCAGGGCCCTCCCTATCCCCA TTACACACACAACACACACCCTTCCCAGGGCCCTCCCTATCCCCATTACA CACACAACACACACCCTTCCCGGGGCCCTCCCTATACACATTACACACAC GCCACACCCCCTTCCCAGGGCCCTCCCTATCCCCATTACACACACACCAC ACCCCCTTCCCGGGGCCCTCCCTATACCCATTTACACACACG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0004 a0001c0021t0004	a0001c0021t0004g0155 a0001c0021t0004g0155	1	183	0.0055	891	c.107 others(910): Show c.1077+6522_1077+6523insCGTGTGTGTAAATGGGTATAGGGAGG GCCCCGGGAAGGGGGTGTGGTGTGTGTGTAATGGGGATAGGGAGGGCCCT GGGAAGGGGGTGTGGCGTGTGTGTAATGTGTATAGGGAGGGCCCCGGGAA GGGTGTGTGTTGTGTGTGTAATGGGGATAGGGAGGGCCCTGGGAAGGGTG TGTGTTGTGTGTGTAATGGGGATAGGGAGGGCCCTGGGAAGGGGGTGTGG TGTGTGTGTAATGGGGATAGGGAGGGCCCTGGGAAGGGGGTGTGGTGTGT GTGTAATGTGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTA ATGGGTATAGGGACGGCCCTGGGAAGGGTGTGTGGCGTGTGTGTAATGGG TATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAG GGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAATGGGTATGGGGGGG CCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGGCCCCG GGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAG TGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGT GGCGTGTGTGTAATGGGGATAGGGAGGGCCCCTGGAAGGGTGTGTTGTGT GTGTAATGGGTATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTGTAAT GGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAAATGGGT ATAGGGAGGGCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGG GAGGGCCCCTGAAAGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCC CCGGGAAGTGTGTGT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
HPCAL1_chr2_10297904_10432604	10399403	C C	CCACCACC others(884): Show CCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCATCACCACCACCACCATCATCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCATCACCACCACTACCATCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCATCACCATCACCACCACCACCACCATCACCATCATCA CCACCATCACCACCACCATCACCATCACCACCACCGCCGCCACCACCACC ATCACCATCATCACCGCCGCCACCACCACCACCATCACCATCATCACCGC CGCCACCACCACCACCATCACCACCACCACCACCATCACCATCACCACCA CCACCACCATCATCACCGCCACCACCACCACCACCATCACCATCACCACC ACCATCACCATCATCACCGCCACCACCACCACCACCATCACCACCACAAC CACCACCACCACCATCACCACCATCACCACCACCACCACCATCACCACCA CCACCACCACCACCACCATCACCACCACTACCATCATCACCACCACCACC ACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCATCACCACCACCACCATCATCACCACCATCACCACCACCACCA CCATCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	314	0.0032	891	c.-25 others(908): Show c.-25+2527_-25+2528insCCACCACCACCACCACCACCATCACCAC CACCACCATCATCACCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCATCACCACCACTACCATCATCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCATCA CCACCACCACCACCATCACCATCATCACCACCATCACCACCACCATCACC ATCACCACCACCGCCGCCACCACCACCATCACCATCATCACCGCCGCCAC CACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCACCA CCACCACCACCATCACCATCACCACCACCACCACCATCATCACCGCCACC ACCACCACCACCATCACCATCACCACCACCATCACCATCATCACCGCCAC CACCACCACCACCATCACCACCACAACCACCACCACCACCATCACCACCA TCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACC ACCACTACCATCATCACCACCACCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCA TCATCACCACCATCACCACCACCACCACCATCATCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCACC ACCACCATCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
ICA1_chr7_8108184_8267167	8152787	A A	ACCTCCTC others(884): Show ACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCAC CACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCA TCTCCTTCAACACCACTACCCCCACCACTACCACCATCACCTCTTCCACC ACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATCTCCTT CACCACCACTACCCCCAGCACTACCACCATCACCTCCTCCACCATCACCA CCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATC ACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAACACCACTAC CCCCACCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCA CCACCACTACCACCACCACCACCATTATCTCCTTCATCACCACTACCCCC ACCACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAACCAC CATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCT CCACCACCACCACCACCACCACCACCACCATCTCCTTCACCACCACTACC CCCAGCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCAC CACCACTACCACCACCACCACCATCTCCTTCACCACCACTACCCCCAGCA CTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACT ACCACCACCACCACCATTATCTCCTTCATCACCACTACCCCCACCACTAC CACCATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCT TCATCACCACTACCCCCACCACTATCACCATCACCATCACCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG02055.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0189 a0001c0003t0002g0102 a0001c0002t0002g0189 a0001c0003t0002g0102	2	274	0.0073	891	c.804 others(908): Show c.804+4328_804+4329insAGGTGATGGTGATGGTGATAGTGGTGGG GGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGG AGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATG GTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGA GGTGATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGG TGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATG GTGGTAGTGCTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGT GGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGG TGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTG ATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGT GGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGG TGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAG GTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGT GGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGCTGG GGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAG GAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGT GGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAG TGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTG ATGGTGGAGGAGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IPCEF1_chr6_154149496_154361803	154354423	C C	CACCACCT others(884): Show CACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACCA CCACCTCCACCATCACCTCCACCACCACCTCCACCATCTCCTCCACCACC ACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACCACCAC CTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACCACCACCT CCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACCACCACCTCC ACCATCTCCTCCACCACCACCTCCACCATCGCCTCCACAACCACCTCCAC CATCTCCTCCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCA TCTCTACCGTCACTTCCACCATCACCTCTACCACTCCAATCACCATTTCT ACCATCTCCATTACCACCTCCACCATCGCCTCCACAACCACCTCCACCAT CTCCTCCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCT CCTCCACCACCACCTCCACCATCGCCTCCACAACCACCTCTACCATCTCC TCCACCACCACCTCCACCATCTCCTCCACAACCACCTCCACCATCTCCTC CACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCA CCACCACCTCCACCATCTCCTCCACAACCACCTCCACCATCTCCTCCACC ACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCGCCTCCACAAC CACCTCTACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACAACCA CCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACCACCACC TCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0155 a0001c0001t0004g0155	1	264	0.0038	891	c.-62 others(908): Show c.-62+2248_-62+2249insTGTGGAGGAGATGGTGGAGGTGGTGGTG GAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGA GGAGATGGTGGAGGTGGTTGTGGAGGAGATGGTGGAGGTGGTGGTGGAGG AGATGGTAGAGGTGGTTGTGGAGGCGATGGTGGAGGTGGTGGTGGAGGAG ATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTTGTGGAGGAGAT GGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGG TGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTTGTGGAGGAGATGGTG GAGGTGGTGGTGGAGGAGATGGTAGAGGTGGTTGTGGAGGCGATGGTGGA GGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGG TGGTGGTGGAGGAGATGGTGGAGGTGGTTGTGGAGGCGATGGTGGAGGTG GTAATGGAGATGGTAGAAATGGTGATTGGAGTGGTAGAGGTGATGGTGGA AGTGACGGTAGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGG TGGTGGAGGAGATGGTGGAGGTGGTTGTGGAGGCGATGGTGGAGGTGGTG GTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGT GGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGG AGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAG GAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGT GATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGA TGGTGGAGGTGGT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IQSEC3_chr12_61767_183455	103869	G G	GGGGGTAG others(884): Show GGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGT GGAGTTCGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAG GCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGT GGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCT CGGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGCTCAGGAGGGAGA GGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCAGGG GGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGC TCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGGCTCTGGAGGGGAGG CGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCGGGGCTCAGGG GGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGC TCAGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGG GAGGCGGGGGCTCGGGAGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGT TCGGTGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGG TGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCG GGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGCTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0005 a0005	a0005c0031 a0005c0031	a0005c0031t0001 a0005c0031t0001	a0005c0031t0001g0057 a0005c0031t0001g0057	1	282	0.0036	891	c.623 others(908): Show c.623+4656_623+4657insGGGTAGGTGGGGGCTCAGGAGGGGAGGT GGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCAGGGCTGGGGGGA GGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGG AGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGG CTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGAGGGGA GGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAG GGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGG CTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGG CGGGGGCTCTGGAGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGG TGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGA GTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCAGGGGGGAGG CGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGA GGGGAGGCGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGC TCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCGGGGCTCAGGGGGGAGG CGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGG GGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCT CGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCG GGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGG GAGGCGGGGCTCG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TTCCCCTC others(884): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCC CTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCCTCCTG CCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCC TCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCT GCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGC CCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCT CCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCT CCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTC CTGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCTC CCCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGCCCTCCTGCCCCCCTCCC CTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGCCC CCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTA CCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCCC CTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0013 a0001c0001t0012g0013	1	276	0.0036	891	c.65 others(902): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGG GGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGG AGGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGGG TACAGGAGGGGAGGGGGGCAGGAGGGCAGAAGGGGAGGGGGGCAGGAGGG CAGGAGGGGAGGGGGCAGGAGGGAAGGTGGGCAGGAGGGGAGGGGGGCAG GAGGGCAGGAGGGGAAGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAG GGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGAGGGC AGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAG GGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGGCAGGAGG GGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGG AGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGA GGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGG GAAGGGGGCAGGAGGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGG AAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGG AGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAG GGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGC AGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAG GAGGGGA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TTCCCCTC others(884): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCC CTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGC CCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCT CCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTG CCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCC CCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTC CTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTC CCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCC TCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCC TGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCTCC CCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGCCCTCCTGCCCCCCTCCCC TCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGCCCC CTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTAC CCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCC CTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0234 a0001c0001t0030g0234	1	276	0.0036	891	c.65 others(902): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAG GGGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAG GAGGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGG GTACAGGAGGGGAGGGGGGCAGGAGGGCAGAAGGGGAGGGGGGCAGGAGG GCAGGAGGGGAGGGGGCAGGAGGGAAGGTGGGCAGGAGGGGAGGGGGGCA GGAGGGCAGGAGGGGAAGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGA GGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGAGGG CAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGA GGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGGCAGGAG GGGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGG GAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGG AGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGG GGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGG AAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGG AGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAG GGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGC AGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAG GAGGGGA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
KIF25_chr6_167992671_168050091	167997332	A A	ATGGGGGG others(884): Show ATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGACGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGG GCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GTCGGGGGAATCTGCAGAGGTGGGGGCCGGGGGAATCTGCAGAGATGGGG CGACGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGG GGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATG GGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGGTCGGGGGAATCTGCAGAGATGGCGACGGGGGAATCTGCAGAGATG GGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGC GACGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0247 a0002c0002t0013g0247	1	375	0.0027	891	c.-21 others(902): Show c.-2137_-2136insTGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGA CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGAC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGA ATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGGTGGGGGCCGGGGGAA TCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCGGGGG AATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGCGACGGGG GAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGA ATCTGCAGAGATGGCGACGGGGGAATCTGCAGAGATGGGGGTCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCT GCAGAGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		338		chr6	TogoVar
KIRREL3_chr11_126418358_127005770	126632686	G G	GCCACAAG others(884): Show GCCACAAGCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGC AGCCCTGGGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACA TGGGTGAGAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGT AAAGCCTGCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGG GAGATAAAAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCT AATATGCAGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAG AAGAAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAAGGA AGGAACGGTAGCGGCTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTT ATGCAGCTCAGATGCCCACTCCATGACAGGTATGCGACCTGGGCATGCAT TCTCTGCAGGGAGACAATTACTGTTGCTGTGTGTGACAGGGTTGATACAT CCTGCTGAAGGTAGGCATCTCTGTGTTTCCTTATTTTGTAATCCTTTCAA GCCTTCTGAATCCAGCCTCTGTCTCCAGCTGTCCAGTTCTGGACAAGCCT GCTACTCAGTGGAACCCCTCGTTTCTACCCCCAGGTGGTCTAGGCACTGA GGCTACAGAGGGCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTAC CGTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTTCCTTCCTTTCCTTTCCTTT CCTTTCTTTTTCTTCTTCTTTTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01192.hp1 HG01496.hp1 others(3): Show HG01106.hp2 HG01192.hp1 HG01496.hp1 HG02083.hp2 HG03579.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011	a0001c0001t0003 a0001c0001t0041 a0001c0002t0002 others(3): Show a0001c0001t0003 a0001c0001t0041 a0001c0002t0002 a0001c0003t0001 a0001c0005t0018 a0001c0011t0001	a0001c0001t0003g0047 a0001c0001t0041g0064 a0001c0002t0002g0100 others(3): Show a0001c0001t0003g0047 a0001c0001t0041g0064 a0001c0002t0002g0100 a0001c0003t0001g0098 a0001c0005t0018g0039 a0001c0011t0001g0112	6	114	0.0526	891	c.56- others(908): Show c.56-69775_56-69774insGGAGAGAGAGAGAGAGAGAGAAAAGAAG AAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAACGGTAGCGGCTATCCAAGGTGCGGACAACAGCCCTTAT AGCCCTCTGTAGCCTCAGTGCCTAGACCACCTGGGGGTAGAAACGAGGGG TTCCACTGAGTAGCAGGCTTGTCCAGAACTGGACAGCTGGAGACAGAGGC TGGATTCAGAAGGCTTGAAAGGATTACAAAATAAGGAAACACAGAGATGC CTACCTTCAGCAGGATGTATCAACCCTGTCACACACAGCAACAGTAATTG TCTCCCTGCAGAGAATGCATGCCCAGGTCGCATACCTGTCATGGAGTGGG CATCTGAGCTGCATAAGGGCTATAAGGGCTGTTGTCCGCACCTTGGATAG CCGCTACCGTTCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCCTCCTTCCTTTCCTTCCTTTCCTTTCCTTTCCT TTCTTTTTCTTCTTCTTTTCTCTCTCTCTCTCTCTCTCCCCACAAGCCTC CTCCACTGCATATTAGCCACTGCTGTAACAAGTATACTAATGTCTCCTCA TCAATTTTTATCTCCCAATGCCCAGTATGCAGCAACGATATGAACAAGAG TTCAGGCAGGCTTTACAGGATTCCCACCAGGTTGGGTGGGAGGTGCGGAC ATGCTTCTCACCCATGTTTTCTGGCATTCGCAGTCCCTCACTCAATTGCC CCCTCCCCAGGGCTGCTCTTGGGCAGGACAGAAAAGCAGCTGCACAGGGA AGGAGGCTTGTGG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36055108	A A	AGAGGGAT others(884): Show AGAGGGATAGTTGGATGAATGGATGGATGGATAGATGGATGGATGGATGG GTGGATGAATGGATGGATGGATGCATGGATGGATGGATGGATGGTTGGAT GAATGGATGGATGGGTGCATGGATGGATAGATGGATGGATGGATGGATGA ATGGATGGATGGGTGCATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGCATGGATGGATGGACGATGGATACATGGA TGCATGGATGGATGGATGCATGGATGGATGGATGATGGATACATGGATGC ATGGATGGATGGTTGGATGGATGGATGCATGGATGCATGGATGGATGGAT GCATGGGTGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATAA ATGGATGCATGGATGCATGGATGGATGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGCATGGATGGATGGATGAATGGATGG ATGGATGGATGGATGGATAGATGGATGAATGGATGAATGGATGAATGGAT GGATGAGTAGGTGGAAGGGTAGATAGATAGATGGGTGGGTCAGTGGATGG ATGGATAGTTGGGTGGTTGAGTAGGTGGATGGATGAATGGGTAGATTTAT GGGCCGATGTGTAAAGACAGAGGTCTCTCATTCCACAACCACATGTCCTA CTGGAAGCCTTCTCTCCCTTCCTATCCAGGCTAGGTAGATGCCCCTTGTC CCTGCTCCCATAGCATTGCCTCTCTCTACATTTGACTTGTAAACAAGAAG ATACAGTAAACTGTTATAGTTTTCATTTTCCAAGGAATCAGATGCTTCAG TACAGCCAGGAAAAGGTCTGATACACCTTGTTCACTGTTATC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	236	0.0042	891	c.193 others(910): Show c.193+18859_193+18860insGAGGGATAGTTGGATGAATGGATGGA TGGATAGATGGATGGATGGATGGGTGGATGAATGGATGGATGGATGCATG GATGGATGGATGGATGGTTGGATGAATGGATGGATGGGTGCATGGATGGA TAGATGGATGGATGGATGGATGAATGGATGGATGGGTGCATGGATGGATA GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGCATGGA TGGATGGACGATGGATACATGGATGCATGGATGGATGGATGCATGGATGG ATGGATGATGGATACATGGATGCATGGATGGATGGTTGGATGGATGGATG CATGGATGCATGGATGGATGGATGCATGGGTGGATGGATGCATGGATGGA TGGATGGATGGATGGATGGATAAATGGATGCATGGATGCATGGATGGATG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGCA TGGATGGATGGATGAATGGATGGATGGATGGATGGATGGATAGATGGATG AATGGATGAATGGATGAATGGATGGATGAGTAGGTGGAAGGGTAGATAGA TAGATGGGTGGGTCAGTGGATGGATGGATAGTTGGGTGGTTGAGTAGGTG GATGGATGAATGGGTAGATTTATGGGCCGATGTGTAAAGACAGAGGTCTC TCATTCCACAACCACATGTCCTACTGGAAGCCTTCTCTCCCTTCCTATCC AGGCTAGGTAGATGCCCCTTGTCCCTGCTCCCATAGCATTGCCTCTCTCT ACATTTGACTTGTAAACAAGAAGATACAGTAAACTGTTATAGTTTTCATT TTCCAAGGAATCAGATGCTTCAGTACAGCCAGGAAAAGGTCTGATACACC TTGTTCACTGTTATC	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5			chr11	TogoVar
LMF1_chr16_848634_975984	859094	G G	GGACGGGT others(884): Show GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTG TGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGT CACGGGATGGGTGTGCAGTGATGTCACGGGATGGGTGTGAGTGGTGTCAC GGGATGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCATGGGA CGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGG GTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	294	0.0034	891	c.153 others(910): Show c.1530-4389_1530-4388insTCGAGACACCACTCACACCCGTCCCG TGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAG ACACCACTCACACCCGTCCCATGACACCACTCACACCCGTCCCGAGACAC CACTCACACCCATCCCGTGACACCACTCACACCCATCCCGTGACATCACT GCACACCCATCCCGTGACACCACTCACACCCATCCCGAGACACCACTCAC ACCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCC ATCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGT CCCGAGACACCACGCACACCCGTCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCCTGACACC ACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTC ACACCCGTCCCGAGACACCACTGCACACCCCTCCCGAGACACCACTGCAC ACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCC GTCCCGTGACAACACTGCACACCCGTCCCGAGACACCACTCACACCCGTC CCGTGACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCG TGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTGCACACCCGTC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MICAL3_chr22_17782649_18029561	17876950	G G	GGTTAGGG others(884): Show GGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAG GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGG TTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGG GAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGT TATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGG AGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTT ATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGA GGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTA GGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTAT GGAGGTTATGGCAGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGA TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATG GAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGG AAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0019 a0019	a0019c0034 a0019c0034	a0019c0034t0033 a0019c0034t0033	a0019c0034t0033g0270 a0019c0034t0033g0270	1	274	0.0037	891	c.224 others(910): Show c.2242-4928_2242-4927insTTCCCTAACCTCCATAACCTCCCTCA CCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCC CTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTCAC CTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACC TCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCTCCAT AACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCT CCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTA ACCTCCATAATCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTC CATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCC CTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAAC CTCCCTCACCTCCATAACTGCCATAACCTCCATAACTTCCCTAACCTCCC TAACCTCCCTAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACC TCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCT AACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCT CCCTAACCTCCATAACCTCCATAACCTCCCTCACCTCCATAACCTCCATA ACTTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTC CCTAACCTCCCTAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877036	G G	GGGAAGTT others(884): Show GGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTAT GGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGG TTATGGCAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGATTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGT GAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGA GGTTAGAGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTA GGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAA GTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGG TTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTGAGGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	274	0.0037	891	c.224 others(910): Show c.2242-5014_2242-5013insATAACCTCCCTCACCTCCCTAACCTC CCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTCA CCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCC CTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAAC CTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACTTCCCTAACC TCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCT AACCTCCATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCT CCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATA ACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTC CATAACTTCTCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCC CTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCA TAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTAACC TCCATAACTGCCATAACCTCCATAATCTCCCTAACCTCCATAACTTCCCT AACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCT CCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATA ACCTCCATAACTTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(884): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGG GGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAG GGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGG GGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAG GGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAGGGGACGGGAGGGGAGGG GAGGGGGGAGGGGACGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGG AGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAG GGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGG GGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGG GGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGAGGAGGGAGGGGAGTGGAG GGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGA GAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAG TGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGG AGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	272	0.0037	891	c.250 others(906): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCC CTCCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCC TCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCT CTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCT CTCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCATCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCGTC CCCTCCCCCCTCCCCTCCCCTCCCGTCCCCTCCCCTCCCCTCCCCTCCCC CTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCT CACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCC TTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCC GCCCCTTTTCCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTT CCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCT CCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MYOM2_chr8_2040046_2150456	2086109	T T	TGTGATCT others(884): Show TGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCA CTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCC CCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCATG GCCCCCCACAGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTG CGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATC TCTTTGTGGCACCCCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTCGT GATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCCCACAG TCGTGATCTCTTTGTGGCACCCCACTGTCGTGATCTCCGCGTGGCCCCCC ACAGTCGTGATCTCTGCGTGGCCTCCCACTGTTGTGATCTCTGCGTGGCC CCCCACAGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCTGCGT GGCCTCCCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCT GCGTGGCCTCCCACTGTTGTGATCTCCGCGTGGCCCCCCACAGTCGTGAT CTCTGCGTGGCCTCCCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTCG TGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCCCACT GTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCC CACTGTCGTGATCTCTTTGTGGCACCCCACTGTCGTGATCTCTGCGTGGC CCCCCACAGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTGCG TGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0093 a0002c0093	a0002c0093t0001 a0002c0093t0001	a0002c0093t0001g0230 a0002c0093t0001g0230	1	403	0.0025	891	c.164 others(908): Show c.1644+728_1644+729insGCGTGGCCCCCCACTGTTGTGATCTCTG CGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATC TCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGT GATCTCTGCATGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCCCACAG TCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCC ACAGTCGTGATCTCTTTGTGGCACCCCACTGTCGTGATCTCCGCGTGGCC CCCCACAGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGT GGCCCCCCACAGTCGTGATCTCTTTGTGGCACCCCACTGTCGTGATCTCC GCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCTCCCACTGTTGTGAT CTCTGCGTGGCCCCCCACAGTCGTGATCTCCGCGTGGCCCCCCACAGTCG TGATCTCTGCGTGGCCTCCCACTGTCGTGATCTCCGCGTGGCCCCCCACA GTCGTGATCTCTGCGTGGCCTCCCACTGTTGTGATCTCCGCGTGGCCCCC CACAGTCGTGATCTCTGCGTGGCCTCCCACTGTCGTGATCTCCGCGTGGC CCCCCACAGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCTGCG TGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTC TTTGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCACCCCACTGTCGTGA TCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCCCACTGTC GTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCAC TGTCGTGATCTCT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1L_chr2_1784113_2336275	2219901	T T	TCAAGTGC others(884): Show TCAAGTGCTATTTCTTTTTTTTTTTTTTTTTTTTTAAATTTATTTTTTTA TTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGG GACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCT GGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCT GATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCT TCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTA ACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAA GGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGA ACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAA CCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCAC AAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACAC CTCCCAGACGGGGTGGTGGCCGGACAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03471.hp2 HG01109.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0001 a0001c0012t0014 a0001c0002t0001 a0001c0012t0014	a0001c0002t0001g0089 a0001c0012t0014g0004 a0001c0002t0001g0089 a0001c0012t0014g0004	2	104	0.0192	891	c.-42 others(912): Show c.-420-46914_-420-46913insGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGC CGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGTCCGGC CACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAG GATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAA GATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATG GGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGA TCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGT GCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTT TGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAAT CCCTAATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGT CCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGAC CTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAA ACACCCAAGAATTATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAA AAAAGAAATAGCACTTG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(884): Show AGAAGAGAGGGGAGGGGGGAGGAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGAGGGGACGGGAAGGGGGAGGGGAGGGGAAGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGAGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGAGGGGGAGGGGAGGAGGGGAGGGAGGGGAAGGGGAGGAGG GGAGGAAGGGGGAGGGGGAGGGAGGGGAGGGGGGAGGGGGGAGGGGAGGA GGTGGGAGGGGAGGGGGGGACGGGGAGGGGAGGAGGGGGAGGGGAGGAGG GGGGAGGGGAGGAGGGGGTGAGAGGAGGAGGGAGGAGGGGAGGAGGGTGA GGGGAGGAGGGTGAGGGGGAGGAGGGGGAGGGGAGGAGGAGGAGGGGAGG AGGGGGAGGGGAGGAGGGGGGAGGGGAGGGGGAGGGGGAGGGAGGAGGGG AGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAG GGAGGAATGGAAGGGAGGGAAGGGGAGGGGAGGAGTGGAGAGGAGGATGA GGGGAGGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGG AGGGAGGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGAGGGGTGCGGGAG GGGAGGGGTGCGGGAGGGGAGGGTAAAGGAAGGGAGGGGAGGGTGGGGAC GGGAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0142 a0001c0003t0001g0142	1	208	0.0048	891	c.279 others(906): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCGTCCCCACCCTCCCCTCCCTTCCTTTACCCTCCCCTCC CGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTCT CCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCC CCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCC TTCCATTCCTCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCCCCTCCCCTCCCCCCTCC TCCCCTCCCCCTCCTCCCCTCCTCCTCCTCCCCTCCCCCTCCTCCCCCTC ACCCTCCTCCCCTCACCCTCCTCCCCTCCTCCCTCCTCCTCTCACCCCCT CCTCCCCTCCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCGTCCCCCCC TCCCCTCCCACCTCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCTCCCCCT CCCCCTTCCTCCCCTCCTCCCCTTCCCCTCCCTCCCCTCCTCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCGTCCCCTC CCCTCCCTTCTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTCCTCCCCCCT CCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NXN_chr17_794310_984776	841610	A A	AGAGCATC others(884): Show AGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCA CACGGGCGAGCAGGTCCCCCCTGACCACAGCGCATCTCACGCCGGCGAGC AGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCT GACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCA TCTCACACGGGCGAGCAGGTCCCCCCGACCACGGAGCATCTCACACGGGC GAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCC CCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACG GCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCAT GCCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACCCGCGAGCA GGTCCTCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGA CCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCAT CTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCG AGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCC CTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACAGC GCATCTCACGCCGGCGAGCAGGTCCACCCTGACCATGGCACATCTCACGC CGGCGAGCAGGTCCACCCTGACCACGGAGCATCTCACACGGGCGAGCAGG TCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACC ACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0109 a0001c0001t0014g0109	1	242	0.0041	891	c.361 others(910): Show c.361-15533_361-15532insCGTGGTCAGGGGGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCG CCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGG GTGGACCTGCTCGCCGGCGTGAGATGTGCCATGGTCAGGGTGGACCTGCT CGCCGGCGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTCGCCCGTGTGA GATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTG GTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACC TGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGT GTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTC CATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCTCCGTGGTCAGGGG GGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGGGGACCTGCTCG CCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGA TGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGT CAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGGGGACCT GCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGT GAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCG TGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCGCTGTGGTCAGGGGG GACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGC CCGTGTGAGATGCTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PPP2R5C_chr14_101756709_101932977	101918523	C C	CTCATCCC others(884): Show CTCATCCCCCTCGCTCCTCTCGCCCCCCCCACCCCTCCCCCCACCCCTCA GCCTTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCAC CCCTCCCCCCACCCCTCAGCCTTCTCCCCTCGCCCCCCTCATCCCCCTCG CTCCTCTCGCCCCCCCCACCCCTCCCCCCACCCCTCAGCCTTCTCCCCTC GCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCCACCCCTCCCCCCAC CCCTCAGCCTTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCC CCCCACCCCTCCCCCCACCCCTCAGCCTTCCCCCCTCACCCCCTTCATCC CCCTCGCTCCTCTCGCCCCCCCACCCCTCCCCCCACCCCTCAGCCTTCTC CCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCCACCCCTCCC CCCACCCCTCAGCCTTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCT CGCCCCCCCCACCCCTCCCCCCACCCCTCAGCCTTCTCCCCTCGCCCCCC TCATCCCCCTCGCTCCTCTCGCCCCCCCACCCCTCCCCCCACCCCTCAGC CTTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCCACC CCTCCCCCCACCCCTCAGCCTTCTCCCCTCGCCCCCCTCATCCCCCTCGC TCCTCTCGCCCCCCCACCCCTCCCCCCACCCCTCAGCCTTCTCCCCTCGC CCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCCACCCCTCCCCCCACCC CTCAGCCTTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCC CCACCCCTCCCCCCACCCCTCAGCCTTCCCCCCTCACCCCCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0069 a0001c0001t0005g0069	1	138	0.0073	891	c.160 others(908): Show c.1608+604_1608+605insCACCCCTCCCCCCACCCCTCAGCCTTCT CCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCACCCCTCCC CCCACCCCTCAGCCTTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCT CGCCCCCCCCACCCCTCCCCCCACCCCTCAGCCTTCTCCCCTCGCCCCCC TCATCCCCCTCGCTCCTCTCGCCCCCCCCACCCCTCCCCCCACCCCTCAG CCTTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCACC CCTCCCCCCACCCCTCAGCCTTCCCCCCTCACCCCCTTCATCCCCCTCGC TCCTCTCGCCCCCCCACCCCTCCCCCCACCCCTCAGCCTTCTCCCCTCGC CCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCCACCCCTCCCCCCACCC CTCAGCCTTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCC CCCACCCCTCCCCCCACCCCTCAGCCTTCTCCCCTCGCCCCCCTCATCCC CCTCGCTCCTCTCGCCCCCCCACCCCTCCCCCCACCCCTCAGCCTTCTCC CCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCCACCCCTCCCC CCACCCCTCAGCCTTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTC GCCCCCCCACCCCTCCCCCCACCCCTCAGCCTTCTCCCCTCGCCCCCCTC ATCCCCCTCGCTCCTCTCGCCCCCCCCACCCCTCCCCCCACCCCTCAGCC TTCTCCCCTCGCCCCCCTCATCCCCCTCGCTCCTCTCGCCCCCCCACCCC TCCCCCCACCCCTCAGCCTTCCCCCCTCACCCCCTTCATCCCCCTCGCTC CTCTCGCCCCCCC	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKX_chrX_3599340_3718649	3639415	A A	ATGGATGG others(884): Show ATGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGTGGTAG ATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGTGGATG GATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGGATG AAGGGGTGGGGTGGTAGATGGATGAAGGGGGTGGGGGGGGTGGATGGATG AAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGG TGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGTGGGGGG GGTGGATGGATGAAGGGGTGGGGGGGGGTGGATGGATGAAGGGGTGGGGG TGGATGGATGAAGGGGTGGGGGGTGGATGGATGAAGGGGTGGGGTGGTGG ATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGTGGATG GATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTGGGGGGGGTGGATGG ATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGGATGAAG GGGTGGGGTGGTAGATGGATGAAGGGGTAGAGGGGTGGGGGGGGTGGGGG GGTGGGTGCATGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTG GGGTGGTAGATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGG GGGTGGATGGATGAAGGGGTGGGGTGGTGGATGGATGAAGGGGTGGGGGG GGTGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGTGGTA GATGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGTGGATG GATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTGGGGGGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0028 a0001c0001t0006g0028	1	227	0.0044	891	c.719 others(908): Show c.719+2436_719+2437insCCCCCCCACCCCTTCATCCATCTACCAC CCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCATCCACCCCCCCA CCCCTTCATCCATCTACCACCCCACCCCTTCATCCATCCACCCCCACCCC TTCATCCATCCACCCCCCCCACCCCTTCATCCATCCACCACCCCACCCCT TCATCCATCCACCCCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCA TCCATCTACCACCCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCA TCCATGCACCCACCCCCCCACCCCCCCCACCCCTCTACCCCTTCATCCAT CTACCACCCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCATCCAC CCCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCATCCATCTACCAC CCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCATCCACCCCCCCC ACCCCTTCATCCATCCACCACCCCACCCCTTCATCCATCCACCCCCCACC CCTTCATCCATCCACCCCCACCCCTTCATCCATCCACCCCCCCCCACCCC TTCATCCATCCACCCCCCCCACCCTTCATCCATCCACCCCCACCCCTTCA TCCATCCACCCCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCATC CACCCCCACCCCTTCATCCATCCACCCCCCCCACCCCCTTCATCCATCTA CCACCCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCATCCACCCC CCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCATCCACCCCCCCC ACCCCTTCATCCATCTACCACCCCACCCCTTCATCCATCCACCCCCACCC CTTCATCCATCCA	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
RBPMS_chr8_30379541_30577256	30388438	T T	TTATAGCT others(884): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	304	0.0033	891	c.66+ others(906): Show c.66+3401_66+3402insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388469	T T	TTATAGCT others(884): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	304	0.0033	891	c.66+ others(906): Show c.66+3432_66+3433insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388469	T T	TTATAGCT others(884): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0195	1	304	0.0033	891	c.66+ others(906): Show c.66+3401_66+3402insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388495	A A	ATAACTTA others(884): Show ATAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03710.hp1 HG00738.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0257 a0001c0001t0010g0258 a0001c0001t0001g0257 a0001c0001t0010g0258	2	304	0.0066	891	c.66+ others(906): Show c.66+3370_66+3371insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388495	A A	ATAACTTA others(884): Show ATAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01256.hp1 HG01258.hp2 others(2): Show HG00735.hp2 HG01256.hp1 HG01258.hp2 HG03704.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 others(2): Show a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0294 a0001c0001t0004g0262	5	304	0.0165	891	c.66+ others(906): Show c.66+3370_66+3371insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIN3_chr14_92508781_92693994	92547360	A A	AAATAAAT others(884): Show AAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTA TTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCT TTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTAT CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAA AATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAT AAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATT AAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATT ATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAATCTTTATTTTATTATAAAATAATCTTTATTTTATT ATAAAATAATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAA TTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATTATAAAATTA TCTTTATTATAATAAAATAAATTATCTTTATTTTATTATTAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp2 HG01358.hp1 others(1): Show HG00738.hp1 HG01175.hp2 HG01358.hp1 HG01496.hp2	a0003 a0007 a0009 a0003 a0007 a0009	a0003c0003 a0007c0007 a0009c0008 a0003c0003 a0007c0007 a0009c0008	a0003c0003t0001 a0007c0007t0001 a0009c0008t0001 a0003c0003t0001 a0007c0007t0001 a0009c0008t0001	a0003c0003t0001g0109 a0007c0007t0001g0146 a0009c0008t0001g0108 others(1): Show a0003c0003t0001g0109 a0007c0007t0001g0146 a0009c0008t0001g0108 a0009c0008t0001g0147	4	334	0.0120	891	c.45- others(906): Show c.45-8364_45-8363insAAAATAAATTATCTTTATTTTATTATTATA AAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTT ATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCT TTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTAT CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAA AATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAT AAAATAATCTTTATTTTATTATAAAATAATCTTTATTTTATTATAAAATA ATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAATTATCTTT ATTTTATTATAAAATTATCTTTATTTTATTATTATAAAATTATCTTTATT ATAATAAAATAAATTATCTTTATTTTATTATTATAATAAATTATCTTTAT TTTATTATTAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERINC2_chr1_31408213_31439678	31432075	C C	CAGGGTGG others(884): Show CAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGATGGTTAGGG TGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGAG AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGAT GGTTAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATA GGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTG GAGAGGGTGGTTAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGTTAG GGTGCTTAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGG GTGGATAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0029 a0001c0001t0007g0029	1	376	0.0027	891	c.101 others(908): Show c.1014-885_1014-884insACAGGGTGGACAGGGTGGATAGGGTGGA TAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGG TGGTTAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTT AGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGAGAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATA GGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGACAGGGTGGAGAGGGTG GATAGGGTGGTTAGGGTGCTTAGGGTGGATAGGGTGGATAGGGTGGATAG GATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG AGAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGAGAGG GTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432187	G G	GTGGATAG others(884): Show GTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGA TGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAT AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAG AGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTG GTTAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGATAGGGTGGAGAG GGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGG ATAGGGTGGATAGGATGGTCAGGGTGGACAGGGTGGATAGGA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0261 a0001c0003t0004g0261	1	376	0.0027	891	c.101 others(908): Show c.1014-777_1014-776insATAGGGTGGATAGGGTGGATAGGATGGT TAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACA GGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGG ATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGT GGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTG GATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGTTAG GGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGG AGAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTCAGGGTGGACAGG GTGGATAGGATGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPEF2_chr5_35612863_35819611	35708695	C C	CCATCACC others(884): Show CCATCACCACCATCATCACCTCTATCTCCACTACCACTACCAACACCACC ATCACTACCACCATCCCCACCATCATCACCTCTATCTCCACTACCACTAC CAACACCACCATCACTACCACCATCCCCACCACAGCCATCACCACCTCCA CCACCATCACCACCACTACCACCAGCACCATCACCACCTCTACCTCCATC ACCGTCACCACCTCTACCTCCATCACCATCACCACCATCATCACCTCTAT CTCCACTACCACTACCAACACCACCATCACTACCACCATCCCCACCACAG CCATCACCACCTCCGCCACCATCACCACCACTACCACCAGCACCATCACC ACCTCTACCTCCATCACCATCACCACCTCTATCTCCATCACCATCACAAC CTCTACCTCCACCAGCATCACCACCATCATCACCTCTATCTCCACTACCA CCATCACTACCACCATCCCCACCATAGCCATCACCACCTCCACTACCATC ACCACCTCTACCTCCACCACCACTACCACCAGCACCATCACCACCTCTAC CTCCACCACCATCACCACCATCATCACCTGTATCTCCACTACCACCATCC CCACCACAGCCATCACCACCTCCACCACCATCACCAGCTCTTCCTCCACC ACCACTACCAGCAGCACCATTACCACCATCACTACCCCTACCTCTGCCAC CATCATCACCATCATCACCACCACCACCTCCACCACCCCCATCACCACCA CCACCACCACCATCAGTACCACCATCCCCACCACAGCCATCACCACTTCT ACCTGCACCACCACCACCATCACCACCTCCACCACAGTCAACACCACTGT TATTAATACCACCACCACCATCACCATCACCACTACCACCAT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0020 a0020	a0020c0052 a0020c0052	a0020c0052t0001 a0020c0052t0001	a0020c0052t0001g0230 a0020c0052t0001g0230	1	268	0.0037	891	c.266 others(908): Show c.2666-242_2666-241insTCATCACCTCTATCTCCACTACCACTAC CAACACCACCATCACTACCACCATCCCCACCATCATCACCTCTATCTCCA CTACCACTACCAACACCACCATCACTACCACCATCCCCACCACAGCCATC ACCACCTCCACCACCATCACCACCACTACCACCAGCACCATCACCACCTC TACCTCCATCACCGTCACCACCTCTACCTCCATCACCATCACCACCATCA TCACCTCTATCTCCACTACCACTACCAACACCACCATCACTACCACCATC CCCACCACAGCCATCACCACCTCCGCCACCATCACCACCACTACCACCAG CACCATCACCACCTCTACCTCCATCACCATCACCACCTCTATCTCCATCA CCATCACAACCTCTACCTCCACCAGCATCACCACCATCATCACCTCTATC TCCACTACCACCATCACTACCACCATCCCCACCATAGCCATCACCACCTC CACTACCATCACCACCTCTACCTCCACCACCACTACCACCAGCACCATCA CCACCTCTACCTCCACCACCATCACCACCATCATCACCTGTATCTCCACT ACCACCATCCCCACCACAGCCATCACCACCTCCACCACCATCACCAGCTC TTCCTCCACCACCACTACCAGCAGCACCATTACCACCATCACTACCCCTA CCTCTGCCACCATCATCACCATCATCACCACCACCACCTCCACCACCCCC ATCACCACCACCACCACCACCATCAGTACCACCATCCCCACCACAGCCAT CACCACTTCTACCTGCACCACCACCACCATCACCACCTCCACCACAGTCA ACACCACTGTTATTAATACCACCACCACCATCACCATCACCACTACCACC ATCATCACCACCA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	18/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35708695	C C	CCATCACC others(884): Show CCATCACCACCATCATCACCTCTATCTCCACTACCACTACCAACACCACC ATCACTACCACCATCCCCACCATCATCACCTCTATCTCCACTACCACTAC CAACACCACCATCACTACCACCATCCCCACCACAGCCATCACCACCTCCA CCACCATCACCACCACTACCACCAGCACCATCACCACCTCTACCTCCATC ACCGTCACCACCTCTACCTCCATCACCATCACCACCATCATCACCTCTAT CTCCACTACCACTACCAACACCACCATCACTACCACCATCCCCACCACAG CCATCACCACCTCCGCCACCATCACCACCACTACCACCAGCACCATCACC ACCTCTACCTCCATCACCATCACCACCTCTATCTCCATCACCATCACAAC CTCTACCTCCACCAGCATCACCACCATCATCACCTCTATCTCCACTACCA CCATCACTACCACCATCCCCACCATAGCCATCACCACCTCCACTACCATC ACCACCTCTACCTCCACCACCACTACCACCAGCACCATCACCACCTCTAC CTCCACCACCATCACCACCATCATCACCTGTATCTCCACTACCACCATCC CCACCACAGCCATCACCACCTCCACCACCATCACCAGCTCTTCCTCCACC ACCACTACCAGCAGCACCATTACCACCATCACTACCCCTACCTCTGCCAC CATCATCACCATCATCACCACCACCACCTCCACCACCCCCATCACCACCA CCACCACCACCATCAGTACCACCATCCCCACCACAGCCATCACCACTTCT ACCTGCACCACCACCACCATCACCACCTCCACCACAGTCAGCACCACTGT TATTAATACCACCACCACCATCACCATCACCACTACCACCAT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18985.hp2 NA18984.hp2 NA18985.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0209 a0002c0001t0001g0210	2	268	0.0075	891	c.266 others(908): Show c.2666-242_2666-241insTCATCACCTCTATCTCCACTACCACTAC CAACACCACCATCACTACCACCATCCCCACCATCATCACCTCTATCTCCA CTACCACTACCAACACCACCATCACTACCACCATCCCCACCACAGCCATC ACCACCTCCACCACCATCACCACCACTACCACCAGCACCATCACCACCTC TACCTCCATCACCGTCACCACCTCTACCTCCATCACCATCACCACCATCA TCACCTCTATCTCCACTACCACTACCAACACCACCATCACTACCACCATC CCCACCACAGCCATCACCACCTCCGCCACCATCACCACCACTACCACCAG CACCATCACCACCTCTACCTCCATCACCATCACCACCTCTATCTCCATCA CCATCACAACCTCTACCTCCACCAGCATCACCACCATCATCACCTCTATC TCCACTACCACCATCACTACCACCATCCCCACCATAGCCATCACCACCTC CACTACCATCACCACCTCTACCTCCACCACCACTACCACCAGCACCATCA CCACCTCTACCTCCACCACCATCACCACCATCATCACCTGTATCTCCACT ACCACCATCCCCACCACAGCCATCACCACCTCCACCACCATCACCAGCTC TTCCTCCACCACCACTACCAGCAGCACCATTACCACCATCACTACCCCTA CCTCTGCCACCATCATCACCATCATCACCACCACCACCTCCACCACCCCC ATCACCACCACCACCACCACCATCAGTACCACCATCCCCACCACAGCCAT CACCACTTCTACCTGCACCACCACCACCATCACCACCTCCACCACAGTCA GCACCACTGTTATTAATACCACCACCACCATCACCATCACCACTACCACC ATCATCACCACCA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	18/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SYNDIG1_chr20_24464629_24671616	24530039	A A	AATACCCC others(884): Show AATACCCCTGGTGATGGTTTCAGTGGTGGAGATGATGACAGTGATGGTGG TGGTGATGGTAGTACTCCCGGTGGTGGTGTCAGTGGTGGGGATGGTGATG GTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGT GTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGATGGTAGTATTCC CGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTA TTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGACAGT AGTACTCCCAGTGATGGTGTCATGGTGGAGATGGTGATGGTGGTGGTGAT GGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGACAGTAGTACTCCCAGTGATGGTGTCATGGTGGAGATGGTGATGGTGG TGGTGATGGTAGTACTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATG GTGGTGGTGACGGTAGTACTCCTGGTGATGGTGTCAGTGGTGGGGATGGT GATGGTGGTGGTGATGGTAGTATTCCCAGTGATGGTGTCAGTGGTGGGGA TGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTA TTCCCAGTGATAGTGTCAGTGGTGGGGATGGTGATGGTGGTGGCGATGGT GGTATTCCTGGTGATGGTGTCAGTGGTGGGGAGAGTGGTGGTGATGATGG TAGTACCCCTGGTGGTGGTGATTATGAAAATGGCTATGTCAGTGATGCTG ATTGTGATGGTGACTGAAGTTCTGGAGGTGATGGGGTAATGAAGGTAGTG ATGGCTATGGTGGTGATGGTGGAGATAATGGAGATGGTGGTC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	270	0.0037	891	c.-78 others(910): Show c.-78-12979_-78-12978insACCCCTGGTGATGGTTTCAGTGGTGG AGATGATGACAGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGGTGGTG TCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGATGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGATGGTG ATGGTGGTGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGACAGTAGTACTCCCAGTGATGGTGTCATGGTGGA GATGGTGATGGTGGTGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGG TGGGGATGGTGATGGTGGTGGTGACAGTAGTACTCCCAGTGATGGTGTCA TGGTGGAGATGGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGATGGTG TCAGTGGTGGGGATGGTGATGGTGGTGGTGACGGTAGTACTCCTGGTGAT GGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTATTCCCAG TGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTG GTGGGGATGGTGATGGTGGTATTCCCAGTGATAGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGCGATGGTGGTATTCCTGGTGATGGTGTCAGTGGTGG GGAGAGTGGTGGTGATGATGGTAGTACCCCTGGTGGTGGTGATTATGAAA ATGGCTATGTCAGTGATGCTGATTGTGATGGTGACTGAAGTTCTGGAGGT GATGGGGTAATGAAGGTAGTGATGGCTATGGTGGTGATGGTGGAGATAAT GGAGATGGTGGTCAT	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(884): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCC ACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCCACATCCATCCTAT CCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCATCCAC TATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATCCAC CATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACCC ACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCTACC CATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCCATC CATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCCACA CTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTCATC CATCCACCCACCCACCCTATCTATCCACCCACCCACCCACACTATCCATC CACCCACCCAACCACCCATCCTATTCATCCATCCATCCACCCACCCAGTC TATCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATC TATCCACCCACCCACACACCCACACTATCCACCCACCCACACACCCTATC TACCCACCCAATATATCCACCCACCCACCTACACCATCCACCCACCCACC CTATCTATCCACCCACCCACACTATCCATCCACCCACCTATCCTATTCAT CCATCCATCCACCTACCCAGCCAATTTATCCACCCACCCACCTACCCTAT CTATCCACCCATCCACCTATCCTATTCATCCATCCACCCACC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	258	0.0039	891	c.113 others(910): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCA CCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCA CCCCCCCCCACATCCATCCTATCCACCCACCCACCCACCATCCACCATCC TATCCACCCACCCATCATCCACTATCCATCCACCACCCCCACACCCATCC TATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCACTATCCA TCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACTCACCCAC CCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATA TCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCATCCACCCAC CGTATCTATCCACCCACCCACACTGTCCATCCACCCACCCACCCATCCAC CCACCCACCTATCCTATTCATCCATCCACCCACCCACCCTATCTATCCAC CCACCCACCCACACTATCCATCCACCCACCCAACCACCCATCCTATTCAT CCATCCATCCACCCACCCAGTCTATCCACCCACCCACCTATCCTATTCAT CCATCCCCCCACCCACCCTATCTATCCACCCACCCACACACCCACACTAT CCACCCACCCACACACCCTATCTACCCACCCAATATATCCACCCACCCAC CTACACCATCCACCCACCCACCCTATCTATCCACCCACCCACACTATCCA TCCACCCACCTATCCTATTCATCCATCCATCCACCTACCCAGCCAATTTA TCCACCCACCCACCTACCCTATCTATCCACCCATCCACCTATCCTATTCA TCCATCCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(884): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATC CACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTAT CCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCATCCAC TATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATCCAC CATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACCC ACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCTACC CATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCCATC CATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCCACA CTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTCATC CATCCACCCACCCACCCTATCTATCCACCCACCCACCCACACTATCCATC CACCCACCCAACCACCCATCCTATTCATCCATCCATCCACCCACCCAGTC TATCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATC TATCCACCCACCCACACACCCACACTATCCACCCACCCACACACCCTATC TACCCACCCAATATATCCACCCACCCACCTACACCATCCACCCACCCACC CTATCTATCCACCCACCCACACTATCCATCCACCCACCTATCCTATTCAT CCATCCATCCACCTACCCAGCCAATTTATCCACCCACCCACCTACCCTAT CTATCCACCCATCCACCTATCCTATTCATCCATCCACCCACC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	258	0.0039	891	c.113 others(910): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCCACCATCCCCCATCCTATCCACCC ACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCC ACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCATCCACCATCC TATCCACCCACCCATCATCCACTATCCATCCACCACCCCCACACCCATCC TATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCACTATCCA TCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACTCACCCAC CCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATA TCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCATCCACCCAC CGTATCTATCCACCCACCCACACTGTCCATCCACCCACCCACCCATCCAC CCACCCACCTATCCTATTCATCCATCCACCCACCCACCCTATCTATCCAC CCACCCACCCACACTATCCATCCACCCACCCAACCACCCATCCTATTCAT CCATCCATCCACCCACCCAGTCTATCCACCCACCCACCTATCCTATTCAT CCATCCCCCCACCCACCCTATCTATCCACCCACCCACACACCCACACTAT CCACCCACCCACACACCCTATCTACCCACCCAATATATCCACCCACCCAC CTACACCATCCACCCACCCACCCTATCTATCCACCCACCCACACTATCCA TCCACCCACCTATCCTATTCATCCATCCATCCACCTACCCAGCCAATTTA TCCACCCACCCACCTACCCTATCTATCCACCCATCCACCTATCCTATTCA TCCATCCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1629129	C C	CAGAACTC others(884): Show CAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGT GAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGA CAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGG GGTGGGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGG GGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCAC AGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACAGAGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGC GGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGGG GCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGGACAG CAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGG TGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGA CAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGG GGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGG GGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCAC AGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCATGGGGATGGGGTGGGA AGGGGACAGCAGAGCTCACGGGTGGGGCGGGAAGGGGACAGA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0069 a0002c0001t0007g0069	1	352	0.0028	891	c.299 others(908): Show c.299-1704_299-1703insTCTGTCCCCTTCCCGCCCCACCCGTGAG CTCTGCTGTCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCCCTTC CCGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCC CTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCC CGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTAC TGTCCCCTTCCCGCCCCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTC ACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCTCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTC CCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCC CTTCCCGCCCCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCC TGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGT CCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCA CCCCGTGAGTTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGATCAC others(884): Show CCGATCACCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACTGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCG CCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCA CACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACG ACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0184 a0001c0003t0001g0184	1	392	0.0026	891	c.228 others(910): Show c.2287-1509_2287-1508insTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGATCGGTCACAGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTG ACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGAC TGTGGATGGTGATCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM132D_chr12_129066726_129909025	129828754	G G	GGGAGGAA others(884): Show GGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGA GGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAGGGAGGGAGG GAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGA GGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGAGGGAGG AAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGG AAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGA GGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGA GGAAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGAAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGA GGGAGAAGGAAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGG AGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	94	0.0106	891	c.79+ others(908): Show c.79+74506_79+74507insTTTTCTTCCTCCCTCCCTCCCTCCTTTC CTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCT CCCTTCCTTCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTCCCTCCC TCCTTTCCTCCCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTCCCTC CCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTTCC TCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTC CCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCC TCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTC CTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCC TCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTC CCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCC TCCCTCCCTCCTTTCCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTC CCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCC TCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTT CCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCT TTCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTCCCTCCCTCCCTC CTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTC CCTCCTTTCCTCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(884): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATACTATATCA TCATATGATGATATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	174	0.0058	891	c.41- others(908): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATACTATATCA TCATATGATGATATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TWIST2_chr2_238843085_238915534	238870319	C C	CACACACC others(884): Show CACACACCCCACACACACACATCACATACCACACACACATCACATACCAC ACACACCCCACACACACATCACATACCACACACAAACCACACACCACACA CACACCACACACCCCACACACACCACACACCCCACACACACCACACCCCA TACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACCCCATACACACCACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACCCCATACA CACCACACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACCCCATACACACCACACCCCATACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCACACACACCACACACCGCACA CACACCACACCCCATACACACCACACACCCCACACACACCACACACCCCA CACACACCACACACCCCACACACACCACACACACCACACCCCACACACAC CACACCCCACACACACCACACACCCCACACACACCACACACACCACACCC CACACACACCACACCCCACACACCCCACACACACCACACACCCCACACAC ACCACACACACCACACACCCCACACACACCACACACACCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC ACACCACACCCCACACACACCACACACACCACAGCCCACACACACCACAC ACACCACACCCCACACACACCACACACACCACACCCCACACA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18522.hp1 HG02818.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0185 a0001c0001t0004g0325 a0001c0001t0002g0185 a0001c0001t0004g0325	2	338	0.0059	891	c.35 others(910): Show c.35+21586_*35+21587insACACACCCCACACACACACATCACAT ACCACACACACATCACATACCACACACACCCCACACACACATCACATACC ACACACAAACCACACACCACACACACACCACACACCCCACACACACCACA CACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCATACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACCCCATACACACCACACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCATACACACCACACC CCATACACACCACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACACCGCACACACACCACACCCCATACACACCACACA CCCCACACACACCACACACCCCACACACACCACACACCCCACACACACCA CACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACACACCACACCCCACACACACCACACCCCACACACCCCA CACACACCACACACCCCACACACACCACACACACCACACACCCCACACAC ACCACACACACCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACACACCACACCCCACACACACCACACAC ACCACAGCCCACACACACCACACACACCACACCCCACACACACCACACAC ACCACACCCCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(884): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATTATTATATATAATAATATAATATATATTATTATATATAATTATATATA ATAATATATATTATATTATTATATATAATTATATATAATAATATAATATA TATTATTATATATTATTATATATAATAATATAATATATATTATTATATAT AATTATATATAATAATATAATATATATTATTATATATAATTATATATAAT AATATAATATATATTATTATATATAATTATATATAATAATATAATATATA TTATTATATATAATAATAATATATATATATTATTATATATAATTATATAT AATAATATAATATATATTATTATATATAATTATATATAATAATATAAATA TATTATTATATATTATTATATATAATAATATAATATATATTATATATTAT TATTATATATAATATAATAATATATTATATATTATTATATATAATAATAT AATATATATTATTATATATTATTATATATAATAATATAATATATATTATT ATATATAATAATATAATATATATTATTATATATTATTATATATAATAATA TAATATATATTATTATATATAATAATATAATATATATTATTATATATTAT TATATATAATAATATAATATATATTATTATATATAATAATATAATATATA TTATTATATATTATTATATATAATAATATAATATATATTATTATATATTA TTATATATAATAATATAATATATATTATTATATATTATTATATATAATAA TATAATATATATTATTATATATTATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	238	0.0042	891	c.392 others(908): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATAATAATATATATTATATTATTATATATA ATAATATATAATAATATATATTATATTATTATATATAATAATATATATTA TATTATTATATATAATAATATATAATAATATATATTATATTATTATATAT AATAATATATATTATATTATTATATATAATAATATATAATAATATATATT ATATTATTATATATAATAATATATATTATATTATTATATATAATAATATA TAATAATATATATTATATTATTATATATAATAATATATAATATATTATTA TATTATATATAATAATAATATATAATATATATTATATTATTATATATAAT AATATATAATAATATATTTATATTATTATATATAATTATATATAATAATA TATATTATATTATTATATATAATTATATATAATAATATATATATATTATT ATTATATATAATAATATATATTATATTATTATATATAATTATATATAATA ATATATATTATATTATTATATATAATTATATATAATAATATATATTATAT TATTATATATAATTATATATAATAATATATATTATATTATTATATATAAT AATATATAATAATATATATTATATTATTATATATAATTATATATAATAAT ATAATATATATTATTATATATAATTATATATAATAATATATATTATATTA TTATATATAATAATATATAATAATATATATTATATTATTATATATAATTA TATATAATAATATATATTATATTATTATATATAATAATATATAATAATAT ATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(884): Show TATAATAATATAATATATATTATTATATAATATTATATATAATAATATAA TATATAATTATATATTATTATATATAATAATATAATATATATTATTATAT ATGATCATATATAATAATATAATATATATTATTATATATGATCATATATA ATAATATAATATATATTATTATATATGATCATATATAATAATATAATATA TATTATTATATATGATCATATATAATAATATAATATATATTATTATATAT GATCATATATAATAATATAATATATATTATTATATATGATCATATATAAT AATATAATATATATTATTATATATAATCATATATAATAATATAATATATA TTATTATATATGATCATATATAATCATATATTATATATTATTATATATAA TCATATATAATAATATAATATATGATTATATATAATCATATATAATCATA TATTATATATTATTATATATAATCATATATAATAATATAATATATATTAT TATATATGATCATATATAATAATATATTATATATGATCATATATGATCAT ATATAATAATATATTATATATTATTATATATGATCATATATAATAATATA ATATATATTATTATATATGATCATATATAATAATATAATATATATTATTA TATATGATCATATATAATAATATAATATATATTATTATATATGATCATAT ATAATAATATAATATATATTATTATATATGATCATATATAATAATATAAT ATATATTATTATATATGATTATATATAATAATATAATATATATTATTATA TATGATTATATATAATATAATATATATTATTATATATGATTATATATAAT AATATAATATATATTATTATATATTATTATATATTATTATAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0136 a0003c0004t0004g0136	1	238	0.0042	891	c.392 others(908): Show c.392+6154_392+6155insTTATAATAATATATAATAATATATAATA ATATATATTATATTATTATATATAATCATATATAATAATATATATTATAT TATATATAATCATATATAATAATATATATTATATTATTATATATAATCAT ATATAATAATATATATTATATTATTATATATGATCATATATAATAATATA TATTATATTATTATATATGATCATATATAATAATATATATTATATTATTA TATATGATCATATATAATAATATATATTATATTATTATATATGATCATAT ATAATAATATATATTATATTATTATATATGATCATATATAATAATATATA ATATATTATTATATATGATCATATATGATCATATATAATATATTATTATA TATGATCATATATAATAATATATATTATATTATTATATATGATTATATAT AATAATATATAATATATGATTATATATGATTATATATAATCATATATTAT ATTATTATATATGATTATATATAATAATATATAATATATGATTATATATG ATCATATATAATAATATATATTATATTATTATATATGATTATATATAATA ATATATATTATATTATTATATATGATCATATATAATAATATATATTATAT TATTATATATGATCATATATAATAATATATATTATATTATTATATATGAT CATATATAATAATATATATTATATTATTATATATGATCATATATAATAAT ATATATTATATTATTATATATGATCATATATAATAATATATATTATATTA TTATATATGATCATATATAATAATATATATTATATTATTATATATAATAA TATATAATTATATATTATATTATTATATATAATATTATATAATAATATAT ATTATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UCN3_chr10_5359966_5379692	5369891	G G	GTGTGTAT others(884): Show GTGTGTATATGTGCGTGTATATGTGTGTGTATGTGTGTGTATATGTGTGT GTATATGTGCGTATATGTGTGTGTGTGTATATGTGCGTGTATATGTGCGT GTGTATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTATGTGTGT GTGTATGTGTGTGTATATGTGTGTGTGTATGTGCGTGTGTATATGCGTGT GTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTGTATATGTGTGTGTGT GTGTATGTGTGTGTGTGTGTATATGTGTGTGTATATGTGTGTGTATATGT GTGTATATGTGTGTGTATATGTGTGTGTATATGTGTGTTCATGTGTATGT GTGTAAGGTGTGTATGTGTCTGTGTATATGTGTGTGTATATGTGTGTGTA TATGTGTGTGTATATGCGTGTGTATATGTGTGTGTGTATATGTGTGTATG TGTGTGTGTATATGCGTGTGTGTATATGCGTGTGTGTATGTGTGTATGTG TGTGTATGTGTGTGTATATGCGTGTGTGTATATGTGTGTATATGTGTGTA TATGCGTGTGTATATGCGTGTGTATATGCGTGTGTATGTGTGTGTATGTG TGTGTATGTGTGTGTATATGTGTGTATATGTGTGTGTACGTGTGTGTATG TGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATACGTGTGTATATGTG TGTATGTGTGTGTATATGCGTGTGTATATGTGTGTGTGTATGTGTGTATG TGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATATGTGTGTGTGTATA TGTGTGTATATGTGTGTGTGTATATGTGCGTGTATATGTGTGTGTATGTG TGTATGTGTGTGTGTGTGTGTGTATGTGTGTATGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0405 a0001c0002t0005g0405	1	468	0.0021	891	c.-6- others(906): Show c.-6-3819_-6-3818insATATGTGCGTGTATATGTGTGTGTATGTGT GTGTATATGTGTGTGTATATGTGCGTATATGTGTGTGTGTGTATATGTGC GTGTATATGTGCGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTGTAT GTGTGTATGTGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATGTGCGT GTGTATATGCGTGTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTGT ATATGTGTGTGTGTGTGTATGTGTGTGTGTGTGTATATGTGTGTGTATAT GTGTGTGTATATGTGTGTATATGTGTGTGTATATGTGTGTGTATATGTGT GTTCATGTGTATGTGTGTAAGGTGTGTATGTGTCTGTGTATATGTGTGTG TATATGTGTGTGTATATGTGTGTGTATATGCGTGTGTATATGTGTGTGTG TATATGTGTGTATGTGTGTGTGTATATGCGTGTGTGTATATGCGTGTGTG TATGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGTGTGTATATGTG TGTATATGTGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTATATGTGTGTG TACGTGTGTGTATGTGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATA CGTGTGTATATGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTGTG TGTATGTGTGTATGTGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATA TGTGTGTGTGTATATGTGTGTATATGTGTGTGTGTATATGTGCGTGTATA TGTGTGTGTATGTGTGTATGTGTGTGTGTGTGTGTGTATGTGTGTATGTG TGTGTATGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370262	C C	CGTGTGTA others(884): Show CGTGTGTATGTGTGTGTATGTGTGTGTGTATGGGTGTGTATATGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTG TATGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATG CGTGTGGGTATATGCGTGTGTATGCGTGTGGGTATATGCGTGTGTGTGTA TGCGTGTGTGTATATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTG TGTGTATCTGTGTGTGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTA TGTGTGTGTGTATCTGTGTGTGTGTGTGTGTATGTGTGTGTATGTGTGTG TGTATGTGTGTATATGTGTGTATATGTGTGTGTACGTGTGTGTGTGTATG TGTGTATGTGTGTGTATGTGTGTATGTGTGTATGTGTGTATGTGTGTGTA TGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTATATG CGTGTGTATGCGTGTGTGTATATGCGTGTGTATATATGCGTGTGTGTATG CGTGTGTATGCGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGTG TATGCGTGTGTATGCGTGTGTATGGGTGTGTGTATGTGTGTGTATGTGTG TGTGTATATGTGTGTATATGTGTGTGTATATGTGTGTATGTGTGTATATG TGTGCGTATATGCGTGTGTATATGCGTGTGTATGTGCGTGTGTATATGCG TGTGTATGTGTGTATGTGTGTGTATATGATGTGAGTGTATATGCGTGTGT ATATGCGTGTGTATATGCGTGTGTGTGTGTATGCGTGTGTATATGTGTGT GTATATGTGTGTGTGCGTGTGTGTGCGCGTGTGTGTGCGTGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0109 a0001c0002t0003g0109	1	468	0.0021	891	c.-6- others(906): Show c.-6-3445_-6-3444insGTGTGTGTATGTGTGTGTGTATGGGTGTGT ATATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGT ATGTGTGTGTGTATGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATAT GCGTGTGTATGCGTGTGGGTATATGCGTGTGTATGCGTGTGGGTATATGC GTGTGTGTGTATGCGTGTGTGTATATGTGTGTATGTGTGTGTATATGTGT GTGTATGTGTGTGTGTATCTGTGTGTGTGTGTATGTGTGTATGTGTGTGT ATATGTGTGTATGTGTGTGTGTATCTGTGTGTGTGTGTGTGTATGTGTGT GTATGTGTGTGTGTATGTGTGTATATGTGTGTATATGTGTGTGTACGTGT GTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTATGTGTGTATGTGTGT ATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGT GTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATATATGC GTGTGTGTATGCGTGTGTATGCGTGTGTGTATGTGTGTGTATGTGTGTGT ATATGCGTGTGTATGCGTGTGTATGCGTGTGTATGGGTGTGTGTATGTGT GTGTATGTGTGTGTGTATATGTGTGTATATGTGTGTGTATATGTGTGTAT GTGTGTATATGTGTGCGTATATGCGTGTGTATATGCGTGTGTATGTGCGT GTGTATATGCGTGTGTATGTGTGTATGTGTGTGTATATGATGTGAGTGTA TATGCGTGTGTATATGCGTGTGTATATGCGTGTGTGTGTGTATGCGTGTG TATATGTGTGTGTATATGTGTGTGTGCGTGTGTGTGCGCGTGTGTGTGCG TGTGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(884): Show TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCC CCCTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTC CCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCTTCCCTCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCC CCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTC CCCCCTTTCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCC CCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	246	0.0041	891	c.-10 others(908): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCC CCTTCCCCCTTCCCCCTTCCCCCCTCCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCC TTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTT CCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCTCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCC CTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCT TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTC CCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ABCB11_chr2_168915781_169036324	168975232	T T	TTTATATA others(885): Show TTTATATATTTATATATTTATAGATAAATATATAAATATATAAATATATA TATATTTATAGATAAATATATAAATATATAAATATATATATATTTATAGA TAAATATATAAATATATATATATTTATAGATAAATATATAAATATATAGA TATATATTTATAGATAAATATATATATATAAATATTTATATATTTATAGA TAAACGTATAAATATTTATATATTTATAGATAAACGTATAAATATTTATA TATTTATAGATAAACGTATAAATATTTATATATTTATAGATAAACGTATA AATATTTATATATTTATAGATAAACGTATAAATATTTTTATATTTATAGA TAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTA TATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATA AATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGA TAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTA TATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATA AATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGA TAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTA TATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATA AATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGA TAAACGTATAAGTATTTTTATATTTATAGATAAACGTATAAGTATTTTTA TATTTATAGATATATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0112 a0001c0006t0002g0112	1	306	0.0033	892	c.130 others(911): Show c.1308+1344_1308+1345insCTATAAATATAAAAATATTTATATAT TTATATATCTATAAATATAAAAATACTTATACGTTTATCTATAAATATAA AAATACTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCT ATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTAT ACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAA AAATATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCT ATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTAT ACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAA AAATATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCT ATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTAT ACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAA AAATATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCT ATAAATATATAAATATTTATACGTTTATCTATAAATATATAAATATTTAT ACGTTTATCTATAAATATATAAATATTTATACGTTTATCTATAAATATAT AAATATTTATACGTTTATCTATAAATATATAAATATTTATATATATATAT TTATCTATAAATATATATCTATATATTTATATATTTATCTATAAATATAT ATATATTTATATATTTATCTATAAATATATATATATTTATATATTTATAT ATTTATCTATAAATATATATATATTTATATATTTATATATTTATCTATAA ATATATAAATATATAA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACAP3_chr1_1287391_1312930	1290181	G G	GTCCCGTG others(885): Show GTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CCCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTG TCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCC GTCCCGTGTCCCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTG CCCCGTCCCCCGTGTCTCTGCTCCATCCCGTGTCTCTGCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	295	0.0034	892	c.33 others(903): Show c.3382_*3383insTGGAGCAGAGACACGGGATGGAGCAGAGACACGG GGGACGGGGCAGAGACACGGGACGGGGCAGGGACACGGGACGGGGCAGGG ACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGC AGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACG GGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGG GGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAG AGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACG GAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGG GGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAG ACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGA GCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGA CGGAGCAGAGACACGGGGGACGGAGCAGAGACTCGGGGGACGGAGCAGAG ACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGGGACGGA GCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGG GGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAG GGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGG GCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACAC GGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGG ACACGGGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2209		chr1	TogoVar
ARHGEF7_chr13_111110310_111310732	111221356	T T	TATATATC others(885): Show TATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATA TGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGA TATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTA TATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATA TATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGGA CATATATATCTATATAGATATATATGGACATATATATCTATATAGATATA TATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATA GATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATC TATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATA TATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATG TCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGATA TATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATA TAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATATA TCTATATAGATATATATGTCTATATATATCTATATATATCTATATAGATA TATATGTCTATATATATCTATATATATCTATATAGATATATATGTCTATA TATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATG TCTATATATATCTATATATAGATATATATAGACATATATATCTATATATA GATATATATAGATATATATGTCTATATATAGATATATATAGAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0258 a0001c0001t0009g0258	1	274	0.0037	892	c.670 others(909): Show c.670+3482_670+3483insCTATATAGATATATATGTCTATATATAT CTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTAT ATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATAT GTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGAT ATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTAT ATAGATATATATGGACATATATATCTATATAGATATATATGGACATATAT ATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCT ATATATATCTATATAGATATATATGTCTATATATATCTATATAGATATAT ATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAG ATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCT ATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATAT ATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGT CTATATATATCTATATAGATATATATGTCTATATATATCTATATAGATAT ATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATAT ATATCTATATAGATATATATGTCTATATATATCTATATATATCTATATAG ATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCT ATATAGATATATATGTCTATATATATCTATATATAGATATATATAGACAT ATATATCTATATATAGATATATATAGATATATATGTCTATATATAGATAT ATATAGACATATAT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar

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Search Results (Total: 7053 hits)