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
RPH3AL_chr17_207389_357807	217421	C C	CCTTTCTT others(847): Show CCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCCCCAA GGCATTTCATTCCCATCTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGC TAAAATTGGCCTCACTGGAATCAGGACCCCCAAGGCATTTCGTTCCCATC TGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTC GCTGAAATCAGGACCTCCAAGGCATTTCATTCCCATCTGGGGCAGTTATT ACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACTGGAATCAGGACCCC CAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTCTTCT TCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCCCCAAGGCATTTCAT TCCTGTTTGGGGCAGTTATTACAGAGCCCTTCTTCTGCACTAAAATTGGC CTCACTGGAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTT ATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCA GGACCCCCAAGGCATTTCATTCCTGTTTGGGGCAGTTATTACAGAGCCCT TCTTCTGCGCTAAAATTGGCCTCACTGGAATCAGGACCCCCAAGGCATTT CGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAA AATTGGCCTCGCTGAAATCAGGACCCCCAAGGCATTTCATTCTTGTTTGG GGCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACTGGAA TCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGC CCTTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0055 a0001c0001t0013g0055	1	133	0.0075	854	c.728 others(871): Show c.728-1620_728-1619insAAAGGGCTCCATAATAACTGCCCCAGAT GGGAACGAAATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGCG CAGAAGAAGGGCTCTGTAATAACTGCCCCAAACAAGAATGAAATGCCTTG GGGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCT CCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTC CAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCA AACAGGAATGAAATGCCTTGGGGGTCCTGATTTCAGCGAGGCCAATTTTA GTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAA TGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGTGCAGAAGAAGG GCTCTGTAATAACTGCCCCAAACAGGAATGAAATGCCTTGGGGGTCCTGA TTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAAC TGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTCCAGTGAGGCC AATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCAGATGGGAATG AAATGCCTTGGAGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAGA AGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGGGG GTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAAT AACTGCCCCAGATGGGAATGAAATGCCTTGGGGGTCCTGATTTCAGCGAG GCCAATTTTAGTGCAGAAGAAGAAAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	217432	G G	GCTAAAAT others(847): Show GCTAAAATTGGCCTCACTGAAATCAGGACCCCCAAGGCATTTCGTTCCCA TCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCC TCGCTGAAATCAGGACCCCCAAGGCATTTCATTCCCATCTGGGGCAGTTA TTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACTGAAATCAGGACC CCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTCTT CTTCTGCACTAAAATTGGCCTCACTGGAATCAGGACCCCCAAGGCATTTC GTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAA ATTGGCCTCGCTGAAATTAGGACCCCCAAGGCATTTCATTCCTGTTTGGG GCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACTGGAAT CAGGACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCC CTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCTCCAAG GCATTTCATTCCCATCTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGCT AAAATTGGCCTCACTGAAATCAGGACCCCCAAGGCATTTCGTTCCCATCT GGGGCAGTTATTATGGAGCGCTTTCTTCTTCTGCACTAAAATTGGCCTCG CTGAAATCAGGACCCCCAAGGCATTTCATTCCTGTTTGGGGCAGTTATTA CAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACTGGAATCAGGACCCCC AAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTCTTCTT CTGCA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0003 a0008c0013t0003	a0008c0013t0003g0037 a0008c0013t0003g0037	1	133	0.0075	854	c.728 others(871): Show c.728-1631_728-1630insTGCAGAAGAAGAAAGGGCTCCATAATAA CTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTCCAGTGAGGC CAATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCAAACAGGAAT GAAATGCCTTGGGGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAG AAGAAAGCGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGGG GGTCCTGATTTCAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAA TAACTGCCCCAGATGGGAATGAAATGCCTTGGAGGTCCTGATTTCAGCGA GGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGA TGGGAACGAAATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGC GCAGAAGAAGGGCTCTGTAATAACTGCCCCAAACAGGAATGAAATGCCTT GGGGGTCCTAATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGC TCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATT CCAGTGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAACTG CCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTTCAGTGAGGCCAA TTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCAGATGGGAATGAA ATGCCTTGGGGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAG AAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGGGGGT CCTGATTTCAGTGAGGCCAATTTTAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	217455	C C	CAGGACCC others(847): Show CAGGACCCCCAAGGCATTTCATTCCCATCTGGGGCAGTTATTACAGAGCC CTTCTTCTGTGCTAAAATTGGCCTCACTGAAATCAGGACCCCCAAGGCAT TTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACT AAAATTGGCCTCGCTGAAATCAGGACCCCCAAGGCATTTCATTCCCATCT GGGGCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACTGA AATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGA GCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCCCC AAGGCATTTCATTCCCATCTGGGGCAGTTATTACAGAGCCCTTCTTCTGC GCTAAAATTGGCCTCACTGAAATCAGGACCCCCAAGGCATTTCGTTCCCA TCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCC TCGCTGAAATCAGGACCCCCAAGGCATTTCATTCCCATCTGGGGCAGTTA TTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACTGAAATCAGGACC CCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTCTT CTTCTGCACTAAAATTGGCCTCGCTGAAATGAGGACCCCCAAGGCATTTC ATTCCTGTTTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCGCTAAA ATTGGCCTCACTGAAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGG GCAGTTATAATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTG AAATG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0072 a0001c0001t0006g0072	1	133	0.0075	854	c.728 others(871): Show c.728-1654_728-1653insCATTTCAGCGAGGCCAATTTTAGTGCAG AAGAAGAAAGGGCTCCATTATAACTGCCCCAGATGGGAACGAAATGCCTT GGGGGTCCTGATTTCAGTGAGGCCAATTTTAGCGCAGAAGAAGAAAGGGC TCCATAATAACTGCCCCAAACAGGAATGAAATGCCTTGGGGGTCCTCATT TCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAACTG CCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTTCAGTGAGGCCAA TTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCAGATGGGAATGAA ATGCCTTGGGGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAG AAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGGGGGT CCTGATTTCAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAATAA CTGCCCCAGATGGGAATGAAATGCCTTGGGGGTCCTGATTTCAGCGAGGC CAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGATGG GAACGAAATGCCTTGGGGGTCCTGATTTCAGTGAGGCCAATTTTAGCGCA GAAGAAGGGCTCTGTAATAACTGCCCCAGATGGGAATGAAATGCCTTGGG GGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCC ATAATAACTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTTCA GTGAGGCCAATTTTAGCACAGAAGAAGGGCTCTGTAATAACTGCCCCAGA TGGGAATGAAATGCCTTGGGGGTCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	314894	T T	TCCACCTC others(847): Show TCCACCTCCATTGACCTGCAGCCCCTGTGCTCCACCTCCACTGACCAGTA GTCCCTGTGCCAACTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATT GACCTGTAGTCCCTGTGCTCCACCTCCACTAACCTGCAGTCCTTGTGCCC CCACCTCCATTAACCTGTAGTCTCTGTGCCCCACCTCCATTCACCTGTAG TCCCTGTGCTCCACCTCCACTGACCTGCAGTCCCTGTGCCCCCACCTCCA TTGACCTGTAGTCCCTGTGACTCCACCTCCATTGACCTCTAGTCTCTATG CTCCACCTCCATTGACCTGTAGTCCCTGTGACCCCACCTCCATTGACCTG TAGTCCCTGTGAATCCACCTCCATTGACCTGTAGTCCCTGTGCTCCACCT CCATTAACCTGTATTCCCTGTGACTCCACCTCCATTGACCTCTAGTCCCT GTGTCCCCACCTCCATTGACCAGTCTCTGTGCTCCCACCTACATTGACCT GTAGTCTCTGTGCTCCCACCTACATTGACCTGTAGTCCCTGTGACTCCAC CTCCATTGACCTGTAGTCTCCGTGCTCCACCTCCATTGACCTGTAGTCCC TGTGTCCCCACCTCTATTGACCTGTAGTCTCTGTGACCCCACCTCCATTG ACCTGTAGTCCCTGTGATTCCACCTACATTCACCTGTAGTCCCTGTGTCC CCACCTCTATTGACCTGTAGTCTCTGTGCTCCCACCTGCATTGACCTGTA GTCTCTGTGACCCCACCTCCATTGACCTGTAGTCTCTGTGCTTCCACCTC CATTGCCCTGTAGTCCCTGTGACTCCCCCTCCATTGACCTGTAGTCCCTG TGCTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0100 a0001c0001t0005g0100	1	133	0.0075	854	c.351 others(871): Show c.351+4525_351+4526insGAGCACAGGGACTACAGGTCAATGGAGG GGGAGTCACAGGGACTACAGGGCAATGGAGGTGGAAGCACAGAGACTACA GGTCAATGGAGGTGGGGTCACAGAGACTACAGGTCAATGCAGGTGGGAGC ACAGAGACTACAGGTCAATAGAGGTGGGGACACAGGGACTACAGGTGAAT GTAGGTGGAATCACAGGGACTACAGGTCAATGGAGGTGGGGTCACAGAGA CTACAGGTCAATAGAGGTGGGGACACAGGGACTACAGGTCAATGGAGGTG GAGCACGGAGACTACAGGTCAATGGAGGTGGAGTCACAGGGACTACAGGT CAATGTAGGTGGGAGCACAGAGACTACAGGTCAATGTAGGTGGGAGCACA GAGACTGGTCAATGGAGGTGGGGACACAGGGACTAGAGGTCAATGGAGGT GGAGTCACAGGGAATACAGGTTAATGGAGGTGGAGCACAGGGACTACAGG TCAATGGAGGTGGATTCACAGGGACTACAGGTCAATGGAGGTGGGGTCAC AGGGACTACAGGTCAATGGAGGTGGAGCATAGAGACTAGAGGTCAATGGA GGTGGAGTCACAGGGACTACAGGTCAATGGAGGTGGGGGCACAGGGACTG CAGGTCAGTGGAGGTGGAGCACAGGGACTACAGGTGAATGGAGGTGGGGC ACAGAGACTACAGGTTAATGGAGGTGGGGGCACAAGGACTGCAGGTTAGT GGAGGTGGAGCACAGGGACTACAGGTCAATGGAGGTGGAGCACAGAGACT ACAGGTCAATGGAGTTGGCACAGGGACTACTGGTCAGTGGAGGTGGAGCA CAGGGGCTGCAGGTCAATGGAGGTGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RSRC1_chr3_158105089_158550730	158229108	G G	GTGTATAT others(847): Show GTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACGT GTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACAC ATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAA ACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGT ATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTAT ATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATAC GTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACAC ACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATAT AAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGT GTATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGT ATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACAT ACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAAC ACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTAT ATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATAT GTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACGT GTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACGT GTATATGTGTATATAAACACGTGTATATGTGTATATAAACACATACGTGT ATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	276	0.0036	854	c.494 others(873): Show c.494+25875_494+25876insCACATACGTGTATATGTGTATATAAA CACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTA TATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATA TGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTG TATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACA TACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAA CACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTA TATAAACACGTGTATATGTGTATATAAACACGTGTATATGTGTATATAAA CACATACGTGTATATATGTATATAAACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(847): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTATATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATCTTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATTTTATAATATATAATAT ATCTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0101 a0001c0001t0001g0102	2	340	0.0059	854	c.17 others(873): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAAGATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATAAAATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATATTATAATATGTAATATATATTATATATTATAATATATAATAT ATATTATATATTATAATATGTAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATATAATATAATATATTATATATTATAATATATAAT ATATTATATATTATAATATATAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(847): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTACATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATTTTATAATATATAATAT ATCTT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18949.hp2 NA18947.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0130 a0001c0001t0013g0113 a0001c0001t0001g0130 a0001c0001t0013g0113	2	340	0.0059	854	c.17 others(873): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATAAAATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATATTATAATATGTAATATATATTATATATTATAATATATAATAT ATATTATATATTATAATATGTAATATATATTATATATTATAATATGTAAT ATATATTATATATTATAATATATAATATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAATATATAAT ATATTATATATTATAATATATAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(847): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAAGATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATCTTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATTTTATAATATATAATAT ATCTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0109 a0001c0001t0007g0109	1	340	0.0029	854	c.17 others(873): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAAGATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATCTTATATATTATAAAATATAATATATTATAT TTTATAAAATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATATTATAATATGTAATATATATTATATATTATAATATATAATAT ATATTATATATTATAATATGTAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAATATATAAT ATATTATATATTATAATATATAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(847): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATATTATAAAATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATCTTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATTTTATAATATATAATAT ATCTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	340	0.0029	854	c.17 others(873): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAAGATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATTTTATAATATATAATATATTATATATTATAAAATATAATATATTATAT TTTATAAAATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATATTATAATATGTAATATATATTATATATTATAATATATAATAT ATATTATATATTATAATATGTAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAATATATAAT ATATTATATATTATAATATATAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(847): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATTTTATAATATATAATAT ATCTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02300.hp2 HG04184.hp1 others(3): Show HG01433.hp2 HG02300.hp2 HG04184.hp1 NA18983.hp2 NA19003.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0140 others(3): Show a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0140 a0001c0001t0005g0080 a0001c0001t0005g0084 a0001c0001t0005g0088	6	340	0.0177	854	c.17 others(873): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATAAAATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATATTATAATATGTAATATATATTATATATTATAATATATAATAT ATATTATATATTATAATATGTAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAATATATAAT ATATTATATATTATAATATATAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(847): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTTTATAATATATAATA TATTATATTTTATATTATATAAGATATTATATTTTATAATATATAAGATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATTTTATAATATATAATAT ATCTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	340	0.0029	854	c.17 others(873): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATATTATAAAATA TAATATCTTATATAATATAAAATATAATATATTATATATTATAAAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATAAAATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATATTATAATATGTAATATATATTATATATTATAATATATAATAT ATATTATATATTATAATATGTAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAATATATAAT ATATTATATATTATAATATATAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(847): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATCTTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATTTTATAATATATAATAT ATCTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01074.hp1 HG01106.hp2 others(4): Show HG00280.hp2 HG01074.hp1 HG01106.hp2 HG01175.hp2 HG01516.hp2 HG01517.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0001 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0005g0108 others(4): Show a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0005g0108 a0001c0001t0007g0107 a0001c0001t0007g0125 a0001c0001t0007g0127 a0001c0001t0007g0128	7	340	0.0206	854	c.17 others(873): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAAGATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATAAAATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATATTATAATATGTAATATATATTATATATTATAATATATAATAT ATATTATATATTATAATATGTAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAATATATAAT ATATTATATATTATAATATATAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(847): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATTATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATTTTATAATATATAATAT ATCTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02129.hp1 HG02155.hp2 others(1): Show HG02074.hp1 HG02129.hp1 HG02155.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0112 a0001c0001t0005g0110 a0001c0001t0005g0111 others(1): Show a0001c0001t0001g0112 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0142	4	340	0.0118	854	c.17 others(873): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATAATATATTATAAAATATAATATATTATAT TTTATAAAATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATATTATAATATGTAATATATATTATATATTATAATATATAATAT ATATTATATATTATAATATGTAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAATATATAAT ATATTATATATTATAATATATAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(847): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTGCATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATCTTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATTTTATAATATATAATAT ATCTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0120 a0001c0001t0007g0120	1	340	0.0029	854	c.17 others(873): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAAGATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATAAAATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATATTATAATATGTAATATATATTATATATTATAATATATAATAT ATATTATATATTATAATATGCAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATATAATATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAATATATAAT ATATTATATATTATAATATATAATATATATTATATATTATAATATATAAT ATATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(847): Show CATATTTTATATTATAATATATAATATATTATATATTATAATATATAATA TATATTATATATTATAATATATAATATATTATATATTATAATATATAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATATA TTATATTTTATAATATGTAATATATATTATATTTTATAATATGTAATATA TATTATATTTTATAATATATAATATATATTATATATTATAATATATAATA TATATTATATATTATAATATATAATATATATTACATATTATAATATATAA TATATATTATATATTATAATATATAATATATATTACATATTATAATATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTTTATAATATATAATA TATTATATTTTATATTATATAAGATATTATATTTTATAATATATAAGATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATTTTATAATATATAATAT ATCTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	340	0.0029	854	c.17 others(873): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATATTATAAAATA TAATATCTTATATAATATAAAATATAATATATTATATATTATAAAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATATTATAATATGTAATAT ATATTATATATTATAATATATAATATATATTATATATTATAATATGTAAT ATATATTATATATTATAATATATAATATATATTATATATTATAATATATA ATATATATTATATATTATAAAATATAATATATATTACATATTATAAAATA TAATATATATTACATATTATAAAATATAATATATTATATATTATAAAATA TAATATATATTACATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTATATATTATAATATATA ATATATTATATATTATAATATATAATATATATTATATATTATAATATATA ATATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(847): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCC CAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTG CCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGG GCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	422	0.0024	854	c.64 others(865): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCTGCTGGGCCCCCCCCCA CAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCC GCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCC CCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGC AACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGC AACCCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGG GCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(847): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGG GAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGGGGGGGGAGGAAAGGAAGG AGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGG AAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAG GGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGG AGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAG GAAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGG GGGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0319 a0001c0001t0100g0319	1	322	0.0031	854	c.597 others(871): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCCCTT CCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTC CTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCT CCCTCCTTCCTTTCCTCCCCCCCTCCCTCCCTCCTTCCTTTCCTCCCCCC CTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTT CCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCCCCCTCCCTCCTTCCTTTC CTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCT CCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCC CTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTT TCCTCCCTCCCTCCTTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTC CTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCT CCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(847): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATATATATTATATATTATATAACTATATATTATATATATATTATATATTA TATAACTATATATTATATATTATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAT ATATTATATATTATATAACTATATATTATATATATATATTATATATTATA TAACATATATTATATATATATATTATATATTATATAACTATATATTATAT ATATATATTATATATTATATAACTATATATTATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACATATATTATATATAATATATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	268	0.0037	854	c.73 others(865): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATATATATTATATATTATATAACTATATATTATAT ATATATTATATATTATATAACTATATATTATATATTATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATATATATTATATATTATATAACTATATATTATATATAT ATATTATATATTATATAACATATATTATATATATATATTATATATTATAT AACTATATATTATATATATATATTATATATTATATAACTATATATTATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACATATATTATATATAATATATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
TMEM120B_chr12_121707752_121787068	121747510	G G	GTCTGGGG others(847): Show GTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGG GAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACT GGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAG GCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCT GGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAG GCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCT GGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAG GTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGA AGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGG CTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGA GGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTA GAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGG GAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGG GAGGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01346.hp2 HG00735.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0197 a0002c0002t0024g0207 a0002c0002t0024g0197 a0002c0002t0024g0207	2	314	0.0064	854	c.189 others(869): Show c.189-816_189-815insTCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TSNARE1_chr8_142207080_142408182	142272646	A A	ACGCCTTC others(847): Show ACGCCTTCCTCCTTCCATCCATCCACCCGCCTGTCTACACCTTCCTCTTT CCATCCACCTGTCCATCTACACCTTCCTCCTTCCATCCACCCACCCGTCT ACACCTTCCTCCTTCCATCCATCCACCCGCCCATCTACGCCTTTCTCCAT CCACCCGCCCATCTACACCTTCCTCCTTCCATCCACCTGCCTGTCTACAC TTCCTCCTTCCATCCACCTGCCTGTCTACACCTTCCTCCTTCCATCCATC CACTCACCTGTCTACACCTTCCTCCTTCCATCCGCCTGTCTACACTTTCC TCCTTCCATCCACCCACCCATCTATACCTTCCTCCTTCTGTCCACCTGCC CATCTACGCCTTCCTCCATCCATCCACCCGCCTGTCTACGCCTTTCTCCT TCCATCCACCCACCCATCTATACTTTCCTCCTTCCATCCACCTGCCTGTC TACATCTTCCTCCTTCCATCCACCTGCCTGTCTACACCTTCCTCCTTCCG TCCATCCACACATGCATCTGTTCTTCCAATCATCCTTCTGGCCATGCCCT TGTCCATCAGGCACCCATCCACCTAAGTGAATGTCCCCAGCAAGACAAGA GGGTCAAGCTTCCGTAGGGCAACAGGGAGAGAGGCCTGAACCTGAGATGC AGCAGACGTGGGCTCCAAGGCCAGCTCTGCTTGGTCTCAATAGCCATGCG ACCCTAGAAAACACCTTCTCTTCTGCAGGCCTCAAATTCCCAGTCTGCAA ATTAAAGGCCGGCTTCACAGTCTCTAGGTTTGGGATCTCTGACCCTTCCA GTTCCCTGGGTGTGGAAAATGGGTGAACAAACGTCCCTCCCTGACACACT GTGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00609.hp1 others(28): Show HG00140.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01168.hp1 HG01255.hp2 HG01361.hp2 HG01433.hp2 HG02080.hp1 HG02129.hp2 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 NA18612.hp1 NA18747.hp2 NA18970.hp1 NA18979.hp1 NA19005.hp1 NA19085.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0013c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0013c0016t0001	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(28): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0003g0020 a0001c0001t0003g0068 a0002c0002t0001g0168 a0002c0002t0001g0225 a0002c0002t0002g0217 a0003c0003t0001g0104 a0013c0016t0001g0049	31	238	0.1303	854	c.144 others(873): Show c.1446+2134_1446+2135insCCCACAGTGTGTCAGGGAGGGACGTT TGTTCACCCATTTTCCACACCCAGGGAACTGGAAGGGTCAGAGATCCCAA ACCTAGAGACTGTGAAGCCGGCCTTTAATTTGCAGACTGGGAATTTGAGG CCTGCAGAAGAGAAGGTGTTTTCTAGGGTCGCATGGCTATTGAGACCAAG CAGAGCTGGCCTTGGAGCCCACGTCTGCTGCATCTCAGGTTCAGGCCTCT CTCCCTGTTGCCCTACGGAAGCTTGACCCTCTTGTCTTGCTGGGGACATT CACTTAGGTGGATGGGTGCCTGATGGACAAGGGCATGGCCAGAAGGATGA TTGGAAGAACAGATGCATGTGTGGATGGACGGAAGGAGGAAGGTGTAGAC AGGCAGGTGGATGGAAGGAGGAAGATGTAGACAGGCAGGTGGATGGAAGG AGGAAAGTATAGATGGGTGGGTGGATGGAAGGAGAAAGGCGTAGACAGGC GGGTGGATGGATGGAGGAAGGCGTAGATGGGCAGGTGGACAGAAGGAGGA AGGTATAGATGGGTGGGTGGATGGAAGGAGGAAAGTGTAGACAGGCGGAT GGAAGGAGGAAGGTGTAGACAGGTGAGTGGATGGATGGAAGGAGGAAGGT GTAGACAGGCAGGTGGATGGAAGGAGGAAGTGTAGACAGGCAGGTGGATG GAAGGAGGAAGGTGTAGATGGGCGGGTGGATGGAGAAAGGCGTAGATGGG CGGGTGGATGGATGGAAGGAGGAAGGTGTAGACGGGTGGGTGGATGGAAG GAGGAAGGTGTAGATGGACAGGTGGATGGAAAGAGGAAGGTGTAGACAGG CGGGTGGATGGATGGAAGGAGGAAGGCG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142272646	A A	ACGCCTTC others(847): Show ACGCCTTCCTCCTTCCATCCATCCACCCGCCTGTCTACACCTTCCTCTTT CCATCCACCTGTCCATCTACACCTTCCTCCTTCCATCCACCCACCCGTCT ACACCTTCCTCCTTCCATCCATCCACCCGCCCATCTACGCCTTTCTCCAT CCACCCGCCCATCTACACCTTCCTCCTTCCATCCACCTGCCTGTCTACAC TTCCTCCTTCCATCCACCTGCCTGTCTACACCTTCCTCCTTCCATCCATC CACTCACCTGTCTACACCTTCCTCCTTCCATCCGCCTGTCTACACTTTCC TCCTTCCATCCACCCACCCATCTATACCTTCCTCCTTCTGTCCACCTGCC CATCTACGCCTTCCTCCATCCATCCACCCGCCTGTCTACGCCTTTCTCCT TCCATCCACCCACCCATCTATACTTTCCTCCTTCCATCCACCTGCCTGTC TACATCTTCCTCCTTCCATCCACCTGCCTGTCTACACCTTCCTCCTTCCG TCCATCCACACATGCATCTGTTCTTCCAATCATCCTTCTGGCCATGCCCT TGTCCATCAGGCACCCATCCACCTAAGTGAATGTCCCCAGCAAGACAAGA GGGTCAAGCTTCCGTAGGGCAACAGGGAGAGAGGCCTGAACCTGAGATGC AGCAGACGTGGGCTCCAAGGCCAGCTCTGCTTGGTCTCAATAGCCATGCG ACCCTAGAAAACACCTTCTCTTCTGCAGGCCTCAAATTCCCAGTCTGCAA ATTAAAGGCTGGCTTCACAGTCTCTAGGTTTGGGATCTCTGACCCTTCCA GTTCCCTGGGTGTGGAAAATGGGTGAACAAACGTCCCTCCCTGACACACT GTGGG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	238	0.0042	854	c.144 others(873): Show c.1446+2134_1446+2135insCCCACAGTGTGTCAGGGAGGGACGTT TGTTCACCCATTTTCCACACCCAGGGAACTGGAAGGGTCAGAGATCCCAA ACCTAGAGACTGTGAAGCCAGCCTTTAATTTGCAGACTGGGAATTTGAGG CCTGCAGAAGAGAAGGTGTTTTCTAGGGTCGCATGGCTATTGAGACCAAG CAGAGCTGGCCTTGGAGCCCACGTCTGCTGCATCTCAGGTTCAGGCCTCT CTCCCTGTTGCCCTACGGAAGCTTGACCCTCTTGTCTTGCTGGGGACATT CACTTAGGTGGATGGGTGCCTGATGGACAAGGGCATGGCCAGAAGGATGA TTGGAAGAACAGATGCATGTGTGGATGGACGGAAGGAGGAAGGTGTAGAC AGGCAGGTGGATGGAAGGAGGAAGATGTAGACAGGCAGGTGGATGGAAGG AGGAAAGTATAGATGGGTGGGTGGATGGAAGGAGAAAGGCGTAGACAGGC GGGTGGATGGATGGAGGAAGGCGTAGATGGGCAGGTGGACAGAAGGAGGA AGGTATAGATGGGTGGGTGGATGGAAGGAGGAAAGTGTAGACAGGCGGAT GGAAGGAGGAAGGTGTAGACAGGTGAGTGGATGGATGGAAGGAGGAAGGT GTAGACAGGCAGGTGGATGGAAGGAGGAAGTGTAGACAGGCAGGTGGATG GAAGGAGGAAGGTGTAGATGGGCGGGTGGATGGAGAAAGGCGTAGATGGG CGGGTGGATGGATGGAAGGAGGAAGGTGTAGACGGGTGGGTGGATGGAAG GAGGAAGGTGTAGATGGACAGGTGGATGGAAAGAGGAAGGTGTAGACAGG CGGGTGGATGGATGGAAGGAGGAAGGCG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(848): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATATTAT ATACATATAATATATATTCTCATATATATTATATATACTCATATATATAA TATATATTCTCATATATATAATATATATATTCTCATATATAATATATATT CTCATATATATAATATATACTCATATATTATATATATTCTCATATATTAT ATATATACTCATATATAATGTATATATTCTAATATATAATATATATTTTC TCATTTATATAATATATATTCTCATATATAATATATATTCTCATATATGA CATATTATATATATTCTCATATATATTATATATTCTCATATATATTATAT ATTCTCATATATAATATATATTCTCATATAATATATTATATATTCTCATA TAATATATTATATATTCTCATATAATATATTATAAATTCTCATATAATAT ATTATATATTCTCATATATAATATATTATATATTCTCATATATAATATAT TATATATTCTCATATATAATATATTATATATGCTCATATATAATATATTA TATATGCTCATATATAATATATTATATATGCTCATATATAATATATTATA TATGCTCATATATAATATATTATATATGCTCATATATAATATATTATATA TGCTCATATATAATATATTATATATGCTCATATATAATATATTATGTATG CTCATATATAATATATTATGTATGCTCATATATAATATATTATGTATGAG CATATATAATATATTATGTATGAGCATATATAATATATTATGTATGAGCA TATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	855	c.10 others(868): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGCTCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TATATAATATATTATATATGAGCATATATAATATATTATATATGAGCATA TATAATATATTATATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCATATATAATATATTATATATGAGCATATATA ATATATTATATATGAGAATATATAATATATTATATATGAGAATATATAAT ATATTATATATGAGAATATATAATATATTATATGAGAATTTATAATATAT TATATGAGAATATATAATATATTATATGAGAATATATAATATATTATATG AGAATATATATTATATATGAGAATATATAATATATATGAGAATATATAAT ATATATGAGAATATATATAATATGTCATATATGAGAATATATATTATATA TGAGAATATATATTATATAAATGAGAAAATATATATTATATATTAGAATA TATACATTATATATGAGTATATATATAATATATGAGAATATATATAATAT ATGAGTATATATTATATATATGAGAATATATATTATATATGAGAATATAT ATATTATATATATGAGAATATATATTATATATATGAGTATATATAATATA TATGAGAATATATATTATATGTATATAATATATATAATATATAATATATA ATATATACATATATACATATAATATATAAACATATAATATATAATATATA CATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(848): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCTGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAAA AAAAAAAAATACATATATATATATATATATATATATATATTTAAAATTCC TTGTAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTT TGGGAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGC CTGGCC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18959.hp1 NA18972.hp2 others(3): Show NA18954.hp2 NA18959.hp1 NA18972.hp2 NA18994.hp1 NA18995.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0234 a0001c0001t0003g0004 a0001c0001t0003g0234	6	336	0.0179	855	c.94+ others(870): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATATATGTATTTTTTTTTTTTTTTTTAATATATATTCTTTTT TTTTAAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCAT CTTGGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAG GAGGGAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATT TTTTTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGC CCAGGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCC TCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAA TATATTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTT GGTTGACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTG TTTCCACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCT TTTTCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCC TCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTT AGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(848): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAAA AAAAAAAAATACATATATATATATATATATATATATATATTTAAAATTCC TTGTAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTT TGGGAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGC CTGGCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0257	1	336	0.0030	855	c.94+ others(870): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATATATGTATTTTTTTTTTTTTTTTTAATATATATTCTTTTT TTTTAAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCAT CTCGGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAG GAGGGAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATT TTTTTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGC CCAGGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCC TCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAA TATATTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTT GGTTGACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTG TTTCCACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCT TTTTCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCC TCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTT AGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(848): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGG AGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGG AGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGA GCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAG CGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGC GGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGG AAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGA AGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAA GGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGG GGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGG GAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAG GGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0008 a0005c0006t0001g0008	1	300	0.0033	855	c.-70 others(864): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGG GAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAA GGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGG GGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGG GGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGG AAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGA AGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAA GGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGG AGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAG GAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGG GGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
CAMK1D_chr10_12344547_12840545	12776122	A A	AGACTGTG others(848): Show AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCAT TGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGT GAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATT GATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTG AGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTG ATCAGC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0049 a0001c0001t0038g0049	1	214	0.0047	855	c.565 others(872): Show c.565+6323_565+6324insGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTG AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10			chr10	TogoVar
CDH23_chr10_71391920_71820947	71688896	C C	CCAACGGT others(848): Show CCAACGGTGGTGGAGTCAGGGGTGGTGGAGTCCAGGGTGGTGGAGCCAGG GGTAGAGGAGTCAGGGATGGTGGAGTCAAGTGCCGTGGACCCAGGGATGG TGGAGCCAGGGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGATGGTGGAG CCAGAGGTGGTGGAGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGG GGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTGG TGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAG CCAGGTGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAGTCAGG GGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGG TGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAG TCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGG GGTGGTGGAGTCCAGGGTGGTGGAGCCAGGGGTAGAGGAGTCAGGGATGG TGGAGTCAAGTGCCGTGGACCCAGGGATGGTGGAGCCAGGGGTGGTGGAG TCAGGGATGGTGGAGTCAGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGG GATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGG TGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAG TCAGGGGTGGTGGAGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGG GGTGGTGGAGTCAGGGATGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGG TGGAGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0051 a0051	a0051c0147 a0051c0147	a0051c0147t0009 a0051c0147t0009	a0051c0147t0009g0022 a0051c0147t0009g0022	1	196	0.0051	855	c.205 others(874): Show c.2059+1179_2059+1180insACGGTGGTGGAGTCAGGGGTGGTGGA GTCCAGGGTGGTGGAGCCAGGGGTAGAGGAGTCAGGGATGGTGGAGTCAA GTGCCGTGGACCCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGATG GTGGAGTCAGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGGGATGGTGGA GCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAG GGATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTG GTGGAGCCAGGGATGGTGGAGCCAGGTGTGGTGGAGTCAGGGGTGGTGGA GCCAGGGATGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAA CGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTG GTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGA GCCAACGGTGGTGGAGTCAGGGGTGGTGGAGTCCAGGGTGGTGGAGCCAG GGGTAGAGGAGTCAGGGATGGTGGAGTCAAGTGCCGTGGACCCAGGGATG GTGGAGCCAGGGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGATGGTGGA GCCAGAGGTGGTGGAGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAG GGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTG GTGGAGTCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGA GCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGTCAGGGATGGTGGAGTCAG GGGTGGTGGAGCCAGGGGTGGTGGAGTCA	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	19/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP299_chr4_80330730_80968750	80800773	A A	ACATATAT others(848): Show ACATATATAGTATATATATGTATACATATATAGTATATATATGTATACAT ATATGTATATATATGTATACATATATGTATATATATGTATACATATATAC GTATATATATGTATACATATATATACGTATATATATGTATACATATATAT ACGTATATATATGTATACATATATACGTATATATATGTATACATATATAC GTATATATATGTATACATATATACGTATATATATGTATACATATATACGT ATATATGTATACATATATACGTATATATATGTATACATATATATACGTAT ATATATGTATACATATATATACGTATATATGTATACATATATATACATAT ATGTATACATATATATACATATATGTATACATATATATACATATATGTAT ACATATATATACTATATATGTATACATATATATATACACACACACACACT GATTATATATATATACACATATGGACTCATACATAAAAACTCATATATAA ATATATATAATATATCATATATTTATATTAATATATCATATATATTAATA TATTATATATTTATATTAATATATTATATATTATATATTTATATTAATAT ATTATATATAATATATTAATATATTATATATTATATAATATATTATATAT TATATATTATATTAATATATCAATATATTATATATTATGCATATTATATT AATATATCAATATATTATATATTATATACATATATATATATATGTATACA TATATACGTATATATATGTATACATATATACGTATATATATGTATACATA TATACGTATATATATGTATACATATATATACGTATATATGTATACATATA TATACG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0047 a0002c0007t0001g0047	1	96	0.0104	855	c.334 others(874): Show c.334-69220_334-69219insCATATATAGTATATATATGTATACAT ATATAGTATATATATGTATACATATATGTATATATATGTATACATATATG TATATATATGTATACATATATACGTATATATATGTATACATATATATACG TATATATATGTATACATATATATACGTATATATATGTATACATATATACG TATATATATGTATACATATATACGTATATATATGTATACATATATACGTA TATATATGTATACATATATACGTATATATGTATACATATATACGTATATA TATGTATACATATATATACGTATATATATGTATACATATATATACGTATA TATGTATACATATATATACATATATGTATACATATATATACATATATGTA TACATATATATACATATATGTATACATATATATACTATATATGTATACAT ATATATATACACACACACACACTGATTATATATATATACACATATGGACT CATACATAAAAACTCATATATAAATATATATAATATATCATATATTTATA TTAATATATCATATATATTAATATATTATATATTTATATTAATATATTAT ATATTATATATTTATATTAATATATTATATATAATATATTAATATATTAT ATATTATATAATATATTATATATTATATATTATATTAATATATCAATATA TTATATATTATGCATATTATATTAATATATCAATATATTATATATTATAT ACATATATATATATATGTATACATATATACGTATATATATGTATACATAT ATACGTATATATATGTATACATATATACGTATATATATGTATACATATAT ATACGTATATATGTATACATATATATACG	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5			chr4	TogoVar
CHL1_chr3_191763_414417	262026	A A	ACACAGTA others(848): Show ACACAGTACTCACAGGGCAGGATTCACACGTTTGAGCCTAGATCTACACA GTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACT CACAGGGCAGGATTCACACGTTTGAGCCTAGATCTACACAGTACTCACAG GGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAG GATTCACACGTTTAAGCCCAGATCTACATAGTACTCACAGGGCAGGATTC ACACGTTTAAGCCTAGATCTACACAGTACTCCCAGGGCAGGATTCACACG TTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAA ACCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCA GATCTACATAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCT ACACAGTACTCCCAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACA GTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACT CACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAG GGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAG GATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTC ACACGTTTAAACCTAGATCTACACAGTACTCACAGGGCAGGATTTACACG TTTAAGCCTAGATCTACATAGTACTCACAGGGCAGGATTCACACGTTTAA GCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTA GATCTG	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18522.hp2 HG02970.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0104 a0002c0002t0014g0105 a0002c0002t0014g0104 a0002c0002t0014g0105	2	290	0.0069	855	c.-95 others(874): Show c.-95+17366_-95+17367insGAGCCTAGATCTACACAGTACTCACA GGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTGAGCCTAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCCAGATCTACATAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTACTCCCAGGGCAGGATTCACACGTTTAAGCCT AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAACCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACAT AGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTAC TCCCAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACA GGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AACCTAGATCTACACAGTACTCACAGGGCAGGATTTACACGTTTAAGCCT AGATCTACATAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTGCAC AGTACTCACAGGGCAGGATTCACACGTTT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	262424	C C	CAGATCTA others(848): Show CAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC TAGATCTACACAGTACTTACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTATTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0036 a0014c0020t0036	a0014c0020t0036g0127 a0014c0020t0036g0127	1	290	0.0035	855	c.-95 others(874): Show c.-95+17776_-95+17777insCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTTACA GGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTATTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	262424	C C	CAGATCTA others(848): Show CAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC TAGATCTACACAGTACTTACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTATTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02895.hp1 HG02897.hp2 HG02559.hp1 HG02895.hp1 HG02897.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0011 a0003c0003t0007 a0001c0001t0011 a0003c0003t0007	a0001c0001t0011g0214 a0003c0003t0007g0239 a0003c0003t0007g0247 a0001c0001t0011g0214 a0003c0003t0007g0239 a0003c0003t0007g0247	3	290	0.0103	855	c.-95 others(874): Show c.-95+17776_-95+17777insCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTTACA GGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTATTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	262424	C C	CAGATCTA others(848): Show CAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC CAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	290	0.0035	855	c.-95 others(874): Show c.-95+17776_-95+17777insCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACA GGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	262424	C C	CAGATCTA others(848): Show CAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC TAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTATTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	290	0.0035	855	c.-95 others(874): Show c.-95+17776_-95+17777insCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACA GGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTATTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	262424	C C	CAGATCTA others(848): Show CAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC TAGATCTACACAGTACTTACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTATTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00642.hp2 others(27): Show HG00099.hp2 HG00408.hp2 HG00642.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp2 HG01496.hp1 HG01516.hp2 HG01891.hp1 HG01981.hp2 HG02055.hp2 HG02145.hp1 HG02602.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp2 NA18943.hp1 NA18944.hp1 NA18954.hp2 NA18970.hp1 NA18986.hp2 NA19007.hp1 NA19043.hp1 NA19086.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0018 a0001c0001t0022 a0001c0001t0031 a0001c0001t0033 a0001c0001t0052 a0002c0002t0001 a0003c0003t0002 a0006c0024t0013	a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 others(27): Show a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0169 a0001c0001t0001g0206 a0001c0001t0001g0224 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0002g0054 a0001c0001t0002g0092 a0001c0001t0002g0119 a0001c0001t0002g0198 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0210 a0001c0001t0003g0229 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0018g0246 a0001c0001t0022g0131 a0001c0001t0022g0266 a0001c0001t0031g0086 a0001c0001t0033g0113 a0001c0001t0052g0111 a0002c0002t0001g0275 a0003c0003t0002g0096 a0006c0024t0013g0037	30	290	0.1035	855	c.-95 others(874): Show c.-95+17776_-95+17777insCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTTACA GGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTATTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	262424	C C	CAGATCTA others(848): Show CAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC TAGATCTACACAGTACTTACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTATTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCTAGATCTACACAGTATTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0267 a0002c0002t0001g0267	1	290	0.0035	855	c.-95 others(874): Show c.-95+17776_-95+17777insCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTTACA GGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTATTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTATTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	262424	C C	CAGATCTA others(848): Show CAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACATAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACATAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCTAGATCTACATAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC TAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTATTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0008 a0002c0002t0004g0008	1	290	0.0035	855	c.-95 others(874): Show c.-95+17776_-95+17777insCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACATAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACATAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCT AGATCTACATAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACA GGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTATTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	262424	C C	CAGATCTA others(848): Show CAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACATAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACATAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCTAGATCTACATAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC TAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTA CTCACCGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTATTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0026 a0026	a0026c0014 a0026c0014	a0026c0014t0053 a0026c0014t0053	a0026c0014t0053g0042 a0026c0014t0053g0042	1	290	0.0035	855	c.-95 others(874): Show c.-95+17776_-95+17777insCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACATAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACATAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCT AGATCTACATAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACA GGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACACAGTACTCACCGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTATTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(848): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCT CTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTC CTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCC CTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCT TCCTCC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0127 a0001c0003t0001g0127	1	270	0.0037	855	c.162 others(876): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCT TCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCC CCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCC TCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTC CTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(848): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCT CTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTC CTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCC CTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCT TCCTCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0137 a0001c0003t0010g0137	1	270	0.0037	855	c.162 others(876): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCC CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCT TCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCC CCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCC TCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTC CTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(848): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCT CTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTC CTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCC CTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCT TCCTCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0150 a0001c0003t0010g0150	1	270	0.0037	855	c.162 others(876): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCC CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCT TCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCC CCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCC TCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTC CTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(848): Show CAGTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGAT ATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGACA GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATA GATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCG GGGCGGGGGTGCAGTTGATAGATGATATGGGGGTGGGGACAGGGTGCAGT TTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGG GGGGCGGGGCGGGGGGGCAGTTTATAGATAATATGGGGGCGGGGCGGGGG TGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGAT AATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGG GCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTT ATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAG GCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGT GCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGAT AATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGG GGCAGAGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGT TTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATAT GGGGGTGGGGTAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGCAGG GGGTGT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0254	1	272	0.0037	855	c.109 others(874): Show c.109+14824_109+14825insGATATGGGGGTGGGGAAGGGATGCAG TTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATG GGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGG GTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGAT AATATGGGGGCGGGGCGGGGGTGCAGTTGATAGATGATATGGGGGTGGGG ACAGGGTGCAGTTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTA TAGATAATATGGGGGGCGGGGCGGGGGGGCAGTTTATAGATAATATGGGG GCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTG CAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAA TATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCC AGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATA GATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTG GGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTG TACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATA ATATGGGGGCGGGGCAGAGGGTGCAATTTATAGATAATATGAGGGTGGGG CAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTT TATAGATAATATGGGGGTGGGGTAGGGGGTGCAGTTTATAGATAATATGG GGGTGGGGCAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(848): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAG TTGATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATGATATG GGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGG GTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGAT AATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGG GGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCT TATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGA GGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTG TAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATA ATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGGCGG GGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGAGGGTGCAA TTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATG GGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGG GGGTGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0001 a0001c0003t0002g0001	2	272	0.0074	855	c.109 others(874): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATGATATGGGGGTGGGGACAGG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGG GCGGGGGTGCAGTTGATAGATGATATGGGGGTGGGGACAGGGTGCAGTTT ATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGG GGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTG CAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAA TATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGC GGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTAT AGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGC GGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGC AGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAA TATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGG CAGAGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTT GTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGG GGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CROCC2_chr2_240901336_240998311	240977861	T T	TCTCTGGG others(848): Show TCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCA GGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATC CCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCAT CCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTG CTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAA GCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCT GGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGT AGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCT GGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGC CCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGA CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCAT CCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTG CTCAAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0174 a0014c0014t0001g0174	1	350	0.0029	855	c.440 others(874): Show c.4402-5001_4402-5000insTGGAGCCCAGGCTCATCCCTGCTCAG TCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCA GGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATC CCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCAT CCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTG CTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAG GCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCT GGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCTGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCA GGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGC CCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGG CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCAT CCCTGCTCAAGCTCTGGGGTAGGAGCCTC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(848): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGAGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGA GACAGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCACCACGTCCGGCTAA TTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATA GATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAG GAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02809.hp1 HG02896.hp1 others(6): Show HG02145.hp2 HG02809.hp1 HG02896.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0013 a0001c0001 a0005c0013	a0001c0001t0014 a0001c0001t0024 a0005c0013t0014 a0001c0001t0014 a0001c0001t0024 a0005c0013t0014	a0001c0001t0014g0009 a0001c0001t0014g0174 a0001c0001t0024g0009 others(1): Show a0001c0001t0014g0009 a0001c0001t0014g0174 a0001c0001t0024g0009 a0005c0013t0014g0009	9	419	0.0215	855	c.-51 others(866): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGAGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTTTTGAGACAGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGT AGTGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACC ACCACGTCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCA GATTTCTTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGG CACCGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGT GGATCATGAGGTCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DLGAP2_chr8_732628_1713476	802011	A A	AGTCCGCA others(848): Show AGTCCGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCC GCACTCCTCCTGGGCCCTCCATCCTCACGGCCTGGGGAATGGTCCACACT CCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCACACACCTCC TGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCACACTCCTCCTGGGC CCTCCGTCCTCATGGCCTGGGGAATGGTCCGCACTCCTCCTGGGTCCTCT GTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGTCCTCCGTCCT CACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGTCCTCTGTCCTCATGG CCTGGGGAATGGTCCGCACTCCTCCTGGGTCCTCCGTCCTCACGGCCTGG GGAATGGTCCGCACTCCTCCTGGGTCCTCTGTCCTCATGGCCTGGGGAAT GGTCCGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCC GCACTCCTCCTGGGTCCTCCGTCCTCACGGCCTGGGGAACGGTCTGCACC CCTCCTGGGTCCTCCATCCTCACGGCCTGGGGAATGGTCCGCACACCTCC TGGGCCCTCCGTCCTCACGGCCTGGGGAACGGTCCACACACCTCCTGGGC CCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGTCCTCC GTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGTCCTCTGTCCT CATGGCCTGGGGAATGGTCCGCACCCCTCCTGGGCCCTCCGTCCTCACGG CCTGGGGAACGGTCTGCACTCCTCCTGGGTCCTCTGTCCTCATGGCCTGG GGAACG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0013 a0002c0001t0002g0013	1	40	0.0250	855	c.18+ others(872): Show c.18+64210_18+64211insGTCCTCACGGCCTGGGGAATGGTCCGCA CTCCTCCTGGGCCCTCCATCCTCACGGCCTGGGGAATGGTCCACACTCCT CCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCACACACCTCCTGG GCCCTCCGTCCTCACGGCCTGGGGAATGGTCCACACTCCTCCTGGGCCCT CCGTCCTCATGGCCTGGGGAATGGTCCGCACTCCTCCTGGGTCCTCTGTC CTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGTCCTCCGTCCTCAC GGCCTGGGGAATGGTCCGCACTCCTCCTGGGTCCTCTGTCCTCATGGCCT GGGGAATGGTCCGCACTCCTCCTGGGTCCTCCGTCCTCACGGCCTGGGGA ATGGTCCGCACTCCTCCTGGGTCCTCTGTCCTCATGGCCTGGGGAATGGT CCGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCA CTCCTCCTGGGTCCTCCGTCCTCACGGCCTGGGGAACGGTCTGCACCCCT CCTGGGTCCTCCATCCTCACGGCCTGGGGAATGGTCCGCACACCTCCTGG GCCCTCCGTCCTCACGGCCTGGGGAACGGTCCACACACCTCCTGGGCCCT CCGTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGTCCTCCGTC CTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGTCCTCTGTCCTCAT GGCCTGGGGAATGGTCCGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCT GGGGAACGGTCTGCACTCCTCCTGGGTCCTCTGTCCTCATGGCCTGGGGA ACGGTCCGCACCCCTCCTGGGCCCTCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	802065	C C	CCCTCCTG others(848): Show CCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACGGTCTGCACCCCTC CTGGGCCCTCCGTCCTCACGGCCTGGGGAACAGTCTGCACCCCTCCTGGG CCCTCCGTCCTCACGGCCTGAGGAGCAGTCCGCACCCCTCCTGGGCCCTC CGTCCTCACGGCCTGGGGAACGGTCTGCACCCCTCCTGGGTCCTCCATCC TCACAGCCTGAGGAGCAGTCCGCACCCCTCCTGGGCCCTCCGTCCTCACG GCCTGGGGAACAGTCTGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTG GGGAACGGTCCACACACCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAA CAGTCTGCACCCCTCCTGGGTCCTCTGTCCTCATGGCCTGGGGAACGGTC CACACACCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCACAC ACCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACAGTCTGCACCCCTC CTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCACACACCTCCTGGG CCCTCCGTCCTCACGGCCTGGGGAACGGTCTGCACCCCTCCTGGGTCCTC TGTCCTCACAGCCTGAGGAGCAGTCCGCACCCCTCCTGGGCCCTCCGTCC TCATGGCCTGGGGAACAGTCCGCACCCCTCCTGGGCCCTCCGTCCTCACG GCCTGGGGAATGGTCCACACACCTCCTGGGCCCTCCGTCCTCACGGCCTG GGGAACGGTCCGCACTCCTCCTGGGTCCTCTGTCCTCACGGCCTGGGGAA CAGTCTGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTC CACACA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	40	0.0250	855	c.18+ others(872): Show c.18+64274_18+64275insCGGTCTGCACCCCTCCTGGGCCCTCCGT CCTCACGGCCTGGGGAACAGTCTGCACCCCTCCTGGGCCCTCCGTCCTCA CGGCCTGAGGAGCAGTCCGCACCCCTCCTGGGCCCTCCGTCCTCACGGCC TGGGGAACGGTCTGCACCCCTCCTGGGTCCTCCATCCTCACAGCCTGAGG AGCAGTCCGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACAG TCTGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACGGTCCAC ACACCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACAGTCTGCACCCC TCCTGGGTCCTCTGTCCTCATGGCCTGGGGAACGGTCCACACACCTCCTG GGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCACACACCTCCTGGGCCC TCCGTCCTCACGGCCTGGGGAACAGTCTGCACCCCTCCTGGGCCCTCCGT CCTCACGGCCTGGGGAATGGTCCACACACCTCCTGGGCCCTCCGTCCTCA CGGCCTGGGGAACGGTCTGCACCCCTCCTGGGTCCTCTGTCCTCACAGCC TGAGGAGCAGTCCGCACCCCTCCTGGGCCCTCCGTCCTCATGGCCTGGGG AACAGTCCGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGG TCCACACACCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACGGTCCGC ACTCCTCCTGGGTCCTCTGTCCTCACGGCCTGGGGAACAGTCTGCACCCC TCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCACACACCTCCTG GGCCCTCCGTCCTCACGGCCTGGGGAA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPEP1_chr16_89608642_89643433	89635168	T T	TCCCTTCC others(848): Show TCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTCCTTTCCCCTCCTTCT TCTTTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01934.hp1 HG01975.hp1 HG01074.hp1 HG01934.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222	3	250	0.0120	855	c.105 others(870): Show c.105-730_105-729insCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTCCTTTCC CCTCCTTCTTCTTTCCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
GALNT9_chr12_132191372_132334589	132241973	A A	ACACACCC others(848): Show ACACACCCCCTTCCCGGGGCCTTCCCTATACCCATTACACACACGCCACA CCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCC TTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACACACTTCCC GGAGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCAGGGGC CCTCCCTATACCCATTACACACACAACACACCCCCTTCCCGGGGCCTTCC CTATACCCATTACACACACGCCACACCCCCTTCCAGGGGCCCTCCCTATA CCCATTACACACACGCCACACCCCCTTCCCAGGGCCCTCCCTATACCCAT TACACACACGCCACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACAC ACACAACACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACG CCACACCCCCTTCCCGGAGCCCTCCCTATACCCATTACACACACGCCACA CCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACACAC TTCCCGGAGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCA GGGGCCCTCCCTATACCCATTAGACACACAACACACCCCCTTCCCGGGGC CTTCCCTATACCCATTACACACACGCCACACCCCCTTCCAGGGGCCCTCC CTATACCCATTACACACACGCCACACCCCCTTTCCAGGGCCCTCCCTATA CCCATTACACACACAACACACACCCTTCCCGGAGCCCCCCCTATACCCAT TACACACACGCCACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACAC ACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	183	0.0055	855	c.107 others(874): Show c.1077+5936_1077+5937insGTGTGTGTGTAATGGGTATAGGGAGG GCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGGGGGCTCC GGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCTGGAAA GGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGG TGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCCGGGAAGGGGGTGTGT TGTGTGTCTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGT GTGTAATGGGTATAGGGAGGGCTCCGGGAAGTGTGTGTGTTGTGTGTGTA ATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGG TATAGGGAGGGCTCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAG GGAGGGCCCCGGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGG GCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCT GGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAA GGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCCGGGAAGGGGG TGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGG CGTGTGTGTAATGGGTATAGGGAGGGCTCCGGGAAGTGTGTGTGTTGTGT GTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTA ATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGG TATAGGGAAGGCCCCGGGAAGGGGGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GTPBP6_chrX_299759_323796	322348	A A	AAAAAAAG others(848): Show AAAAAAAGAAAAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTTCCTGTGG TCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGT TTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAA AAAAAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGG ACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGG GCAATATGGTGAGACCCCATTATCTACAAAAAAAAAAAAAAAAGCCGGGC GTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAG GATTGCTTGAGCCCAGGAGTTTGATGCCAGCATGGGCAATATGGTAAGAC CCTATTATCTACAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAATTAGCCG GGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGG GAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAA GACCCTATTATCTACAAAAAAAAAAAAAAAAAAAAGAAAAATTAGCCTGG TGTGGTGGTGGGTTCCTGTGGTCCCAGCTGCTCGGGACGCTGCGGTGGGA GGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGA CCCTATTATCTACAAAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTG GTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGC TTGAGCCCAGGAGTTTGACGCCAGCATGGGCAGTATGGTAAGACCCTATT ATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG06807.hp1 HG02615.hp2 HG06807.hp1	a0001 a0006 a0001 a0006	a0001c0003 a0006c0011 a0001c0003 a0006c0011	a0001c0003t0003 a0006c0011t0003 a0001c0003t0003 a0006c0011t0003	a0001c0003t0003g0145 a0006c0011t0003g0144 a0001c0003t0003g0145 a0006c0011t0003g0144	2	155	0.0129	855	c.-35 others(866): Show c.-3562_-3561insGTAGATAATAGGGTCTTACCATACTGCCCATGCT GGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTCTTTTTTTTTT TTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGCTGGTGTCA AACTCCTGGGCTCAAGCAATCCTCCCACCGCAGCGTCCCGAGCAGCTGGG ACCACAGGAACCCACCACCACACCAGGCTAATTTTTCTTTTTTTTTTTTT TTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGCTGGCGTCAAA CTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGAC CACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTCTTTTTT TTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGCTGGCATC AAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGG GACCACAGGCACCCACCACCACGCCCGGCTTTTTTTTTTTTTTTTGTAGA TAATGGGGTCTCACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCA AGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCA CCACCACGCCCGGCTTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTACC ATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACC TCAGCGTCCCGAGCAGCTGGGACCACAGGAACCCACCACCACACCAGGCT AATTTTTCTTTTTTCTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3553		chrX	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(848): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGG AGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGG GGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCA GGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGG CAGGGA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	204	0.0049	855	c.978 others(872): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGCA GGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGA GAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAG GGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAC GGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGG GAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar

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