Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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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
RAB11FIP3_chr16_420649_528011	458501	C C	CCACAGGG others(695): Show CCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGTTCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTC CTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACA GGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGG GCCTTCCTCAGATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATG CTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCC TGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCA CTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGAT GCT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18966.hp1 NA18939.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0213 a0001c0001t0003g0180 a0001c0001t0003g0213	2	295	0.0068	702	c.715 others(719): Show c.715-2872_715-2871insGTGATGTTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA GTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGG GGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCA GATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGAT GCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGC CTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCT TCCTCAGATTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTC ACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCCCA CAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGG GGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTC GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCCCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGG CCTGGGGGGCCTTCCTCGGGTTCA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RIN3_chr14_92508781_92693994	92547356	T T	TATTATAA others(695): Show TATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTT TATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAA ATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTA TAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTAT TATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTT TATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATC TTTATTTTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATAAAATTATCTTTATTTTATTATAAAATTATCTTTATTTTATTAT AAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTATTATA AAATAAATTATCTTTATTTTATTATTATAATAAATTATCTTTATTTTATT GTA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0023 a0023	a0023c0040 a0023c0040	a0023c0040t0001 a0023c0040t0001	a0023c0040t0001g0184 a0023c0040t0001g0184	1	334	0.0030	702	c.45- others(717): Show c.45-8393_45-8392insTATAAAATAAATTATCTTTATTTTATTATT ATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATT TTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTA TCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATT ATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTT TATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATC TTTATTTTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAA TTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATAAA ATAAATTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAAT TATCTTTATTTTATTATAAAATTATCTTTATTTTATTATTATAAAATAAA TTATCTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAATAA ATTATCTTTATTTTATTGTAAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
ROBO2_chr3_77035099_77654964	77355126	C C	CGCATACC others(695): Show CGCATACCCTAGGAGCTCTGTCACATACCTTTATGATCAACCCTTCCTCC CATCCGCATACCCTAGGAGCTCTATCACATACCTTTATGATCAACCCTTC TTCCCATCCGCATACCCCAGGAGCTCTATCACATACCTTTATGATCAACC CTTCCTGCCATCCCCATATCCTAGGAGTTCTATCATATACTTTTATGATC AACCCTTCTTCCCATCCGCATACCCTAGGAGCTCTGTTACATACCTTTAT GATCAACCCTTCCTCCCATCCCCATACCCTAGGAGTTCTATCACATACCT TTATGATCAACCCTTCTTCCCATCCACATACCCTAGGAGCTCTATCACAT ATATTTATGATCAACCCTTCCTCCCATCCGCATACCCCAGGAGCTCTATC ACATATATTTATGATCAACCCTTCCTCCCATCCGCATACCCCAGGAGCTC TATCACATACCTTTATGATCAACCCTTCCTCCCATCCCCATACCCTAGGA GTTCTATCACATACCTTTATGATCAACCCTTCCTCCCATCCCCATACCCT AGGGGTTCTATCACATACCTTTATGATCAACCCTTCCTCCCATCCCCATA CCCTAGGAGGTCTATCACATATCTTTATGATCAACCCTTCCTCCCATCCC CATACCCCAGGAGTTCTATCACATACCTTTATGATCAACTGTTCTTCCCA TCT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	160	0.0063	702	c.389 others(723): Show c.389-122288_389-122287insGCATACCCTAGGAGCTCTGTCACA TACCTTTATGATCAACCCTTCCTCCCATCCGCATACCCTAGGAGCTCTAT CACATACCTTTATGATCAACCCTTCTTCCCATCCGCATACCCCAGGAGCT CTATCACATACCTTTATGATCAACCCTTCCTGCCATCCCCATATCCTAGG AGTTCTATCATATACTTTTATGATCAACCCTTCTTCCCATCCGCATACCC TAGGAGCTCTGTTACATACCTTTATGATCAACCCTTCCTCCCATCCCCAT ACCCTAGGAGTTCTATCACATACCTTTATGATCAACCCTTCTTCCCATCC ACATACCCTAGGAGCTCTATCACATATATTTATGATCAACCCTTCCTCCC ATCCGCATACCCCAGGAGCTCTATCACATATATTTATGATCAACCCTTCC TCCCATCCGCATACCCCAGGAGCTCTATCACATACCTTTATGATCAACCC TTCCTCCCATCCCCATACCCTAGGAGTTCTATCACATACCTTTATGATCA ACCCTTCCTCCCATCCCCATACCCTAGGGGTTCTATCACATACCTTTATG ATCAACCCTTCCTCCCATCCCCATACCCTAGGAGGTCTATCACATATCTT TATGATCAACCCTTCCTCCCATCCCCATACCCCAGGAGTTCTATCACATA CCTTTATGATCAACTGTTCTTCCCATCT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27			chr3	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(695): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTT ATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTA GTTTATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	308	0.0033	702	c.-75 others(721): Show c.-758+6731_-758+6732insATTTATCTATAAATTAAATATATAAA TATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAAT TAAATATATAAATATATATTTATAAACTAAATATATAAATATGTATTTAT AAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATATGTAT TTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATAT TTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATATATAT TTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATATATAT TTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATAT ATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATAA ATATATATTTATAAACTAAATATATAAATATATGTTTATAAACTAAATAT ATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAA ATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAA CTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTA TAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATG TTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	356559	T T	TCACAGTC others(695): Show TCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCG CACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACA CACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGC CTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCG ACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCA CACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACAC AGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCA CAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGC GCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACAC ACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01258.hp2 HG01358.hp2 others(2): Show HG00099.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0001 a0001c0001t0002 a0001c0001t0013	a0001c0001t0001g0114 a0001c0001t0002g0111 a0001c0001t0002g0116 others(2): Show a0001c0001t0001g0114 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0013g0107 a0001c0001t0013g0108	5	133	0.0376	702	c.-40 others(713): Show c.-4061_-4060insTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCG CCTGTGGAGGCGACTGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3753		chr17	TogoVar
RPH3AL_chr17_207389_357807	356598	T T	TCACAGTC others(695): Show TCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCG CACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACA CACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGC CTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCG ACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCA CACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACAC AGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCA CAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGC GCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACAC ACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0106 a0001c0001t0014g0106	1	133	0.0075	702	c.-41 others(713): Show c.-4100_-4099insTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCG CCTGTGGAGGCGACTGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3792		chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744397	T T	TCCTGGTT others(695): Show TCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTC CTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	196	0.0051	702	c.655 others(719): Show c.655-9608_655-9607insTTACGAGCACAGCCCTGGTTACGAGCAC TGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCT GGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744433	C C	CCCTGGTT others(695): Show CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTAC GAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG TTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCAC TGT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0033 a0001c0014t0002g0033	1	196	0.0051	702	c.655 others(719): Show c.655-9572_655-9571insTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGG CTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAG CCCTGGTTACGAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744541	C C	CCCTGGTT others(695): Show CCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTC CTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCT GGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCAC TGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0028 a0001c0009t0028	a0001c0009t0028g0113 a0001c0009t0028g0113	1	196	0.0051	702	c.655 others(719): Show c.655-9464_655-9463insTTACTAGCACAGCCCTGGTTACGAGCAC TGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACGAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTA GCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACGAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACGAGCACTG TCCTGGCTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744619	T T	TTGCTAGC others(695): Show TTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGCTACTAGTACAGCCCTGGTTACTAGCACTATCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACGAGC ACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACTGTCCTGGTTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGTACAGCC CTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTA GCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGTACAGCCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCT GGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0091 a0001c0091	a0001c0091t0016 a0001c0091t0016	a0001c0091t0016g0166 a0001c0091t0016g0166	1	196	0.0051	702	c.655 others(719): Show c.655-9390_655-9389insGCTAGCACTGTCCTGGTTACTAGCAGAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGTACAGCCCTGG TTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGTTACGAGCACAGCCCTGGTTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGTACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTA TCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGG TTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGTTACTAGCACTATCCTGGCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(695): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCC CTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTC CCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCC CTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0051 a0001c0001t0039g0051	1	158	0.0063	702	c.22+ others(719): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCT CCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCC CTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTTC others(695): Show CCCCCTTCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCC TCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCATCCCCTCCCCTC CCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCC CTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0041 a0001c0004t0041	a0001c0004t0041g0003 a0001c0004t0041g0003	1	158	0.0063	702	c.22+ others(719): Show c.22+36327_22+36328insTCCCTCCCCCTCCCCTCCCCTCCCCTCC CCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTC CCCCTCCCCCTTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCC CTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTC CCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTC CCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTC CCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCC TCCCCTCCCCCTTTCCCTTCCCCT	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC2_chr1_31408213_31439678	31431930	A A	ATAGGGTG others(695): Show ATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGACAGGGTGGTTAGGGTGGTTAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAGAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGAG AGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTG GACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA CAGGGTGGACAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGATAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAT AGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGAT GGT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0054 a0001c0005t0002g0054	1	376	0.0027	702	c.101 others(721): Show c.1014-1029_1014-1028insATAGGGTGGACAGGGTGGACAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGTTAG GGTGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGG AGAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGG GTGGATAGGGTGGAGAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGA GAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTG GACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGAGAGG GTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGA TAGGGTGGATAGGATGGTTAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432174	T T	TAGGGTGG others(695): Show TAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGATAGGG TGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAG AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGT GGACAGGGTGGACAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGAGA GGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTG GAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAG GGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGG AGAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGA GAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGG TGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAG AGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGT GGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGAGA GGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTG GAG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0068 a0001c0005t0002g0068	1	376	0.0027	702	c.101 others(719): Show c.1014-785_1014-784insCAGGGTGGACAGGGTGGAGAGGGTGGAG AGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGT GGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTA GGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGACAGGGTG GACAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAG GGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG AGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGG GTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAGAGGG TGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAG AGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGT GGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGA GGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTG GAGAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAG GGTGGAGAGGGTGGAGAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1098431	G G	GGCCCCCT others(695): Show GGCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCA CCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTG CTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTCTAACCC TCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGGCCCCCCTCT AACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCC CTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCATGCCCAGC CCCCCTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTGCACACC CAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCA TGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCTC TGCATGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAAC CCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCTTC TAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCC CCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACACCCAG CCCCCTTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCTCAC CCA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0014 a0002c0038t0014	a0002c0038t0014g0118 a0002c0038t0014g0118	1	118	0.0085	702	c.125 others(719): Show c.125-4184_125-4183insTGGGTGAGCAGAGGGTTAGAGGGGGGCT GGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGA GGGGGGCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGA GGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGCCTGGGCGTG CAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGG TGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCC TGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGG GGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAG AGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGG GTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGCATGCA GAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTG TGCAGAGGGTTAGAAGGGGGCTTGGTGAGCAGAGGGTTAGAGGGGGGCTG GGCGTGCAGAGGGTTAGAGGGGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC7A1_chr13_29504414_29600688	29558931	A A	AGGTGGAG others(695): Show AGGTGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGTGGAGAG AATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAAT GAGGGGGAGTGAATGTGAATGAGGGGGAGAGAATGTGAGTGAGGTGGAGA GAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGTGGAGAGAATGTGAGT GAGGGGGAGTGAATGTGAGTGAGGTGGAGAGAATGTGAGTGAGGGGGAGT GAATGTGAGTGAGGGGGGAGTGAATGTGAATGAGGGGGAGTGAATGTGAA TGAGGGGGAGAGAATGTGAGTGAGGTGGAGAGAATGTGAGTGAGGGGGAG TGAATGTGAGTGAGGTGGAGAGAATGTGAATGAGGGGGAGTGAATGTGAG TGAGGTGGAGAGAATGTGAGTGAGGGGGGAGTGAATGTGAGTGAGGGGGA GAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTG AATGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGGGGGGA GTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTG AATGAGGGGGAGAGAATGTGAGTGAGCGGGAGAGAATGTGAGTGAGGGGG AGTGAATGTGAGTGAGGGGGAGTGAATCTGAATGAGGGGGGAGTGAATGT GAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18612.hp1 NA18947.hp2 others(2): Show HG00438.hp2 NA18612.hp1 NA18947.hp2 NA18995.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009	a0001c0001t0002g0124 a0001c0001t0002g0303 a0001c0001t0003g0237 others(2): Show a0001c0001t0002g0124 a0001c0001t0002g0303 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0009g0178	5	330	0.0152	702	c.-11 others(721): Show c.-114-5072_-114-5071insCTCACATTCACTCCCCCCTCATTCAG ATTCACTCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCTCTCCC GCTCACTCACATTCTCTCCCCCTCATTCACATTCACTCCCCCCTCACTCA CATTCACTCCCCCTCACTCACATTCACTCCCCCCACTCACATTCTCTCCC CCTCACTCACATTCTCTCCCCCTCATTCACATTCACTCCCCCCTCACTCA CATTCACTCCCCCTCACTCACATTCTCTCCCCCTCACTCACATTCACTCC CCCCTCACTCACATTCTCTCCACCTCACTCACATTCACTCCCCCTCATTC ACATTCTCTCCACCTCACTCACATTCACTCCCCCTCACTCACATTCTCTC CACCTCACTCACATTCTCTCCCCCTCATTCACATTCACTCCCCCTCATTC ACATTCACTCCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCTCT CCACCTCACTCACATTCACTCCCCCTCACTCACATTCTCTCCACCTCACT CACATTCACTCCCCCTCACTCACATTCTCTCCACCTCACTCACATTCTCT CCCCCTCATTCACATTCACTCCCCCTCATTCACATTCACTCCCCCCTCAC TCACATTCACTCCCCCTCACTCACATTCTCTCCACCTCACTCACATTCAC TCCCCCTCACTCACATTCTCTCCACC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(695): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGG GGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGG AGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGG AGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGG GGGAAGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGA GGGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGATGGG GAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGGGG ATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGA GGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAA GGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGA GGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGG GGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGGGAGGGGAGGAGGGAGGGG AGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAG GGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCG GGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	702	c.12 others(713): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCCCTCCCTCCT CCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCT TCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCT CCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCC TCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTC CCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTC CCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCC TCTCCCCATCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCT CTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTC CCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGC CCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SNTG2_chr2_945849_1372613	1221592	C C	CTCTGCCT others(695): Show CTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCT CTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCT GCCTCTGCCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTCTGTCT CTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTCCCTCT CTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCC CTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGT CTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCC CTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCATCTGCCT CTCTCTGTCTCTGTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGCTTCTCT CTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCT CTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCT CTGTCACTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCCC CTCCCTCTGTCTCTCTCTGTCCCTTTCAGTCTCTGGTTTTGTCTCTGTCT CTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTCTGTCTCTGCCTATCT CTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp2 NA18522.hp1 HG02572.hp2 HG02615.hp2 NA18522.hp1	a0005 a0009 a0018 a0005 a0009 a0018	a0005c0006 a0009c0029 a0018c0023 a0005c0006 a0009c0029 a0018c0023	a0005c0006t0001 a0009c0029t0001 a0018c0023t0001 a0005c0006t0001 a0009c0029t0001 a0018c0023t0001	a0005c0006t0001g0079 a0009c0029t0001g0152 a0018c0023t0001g0048 a0005c0006t0001g0079 a0009c0029t0001g0152 a0018c0023t0001g0048	3	190	0.0158	702	c.719 others(721): Show c.719+12362_719+12363insTCTGCCTCTGTCTCTGCCTCTCTGTG TCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTT TGTCTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTGCCTC TGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGCC TCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTC TCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTC TCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCC CCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTC TCTCTCTGTCTCTGCATCTGCCTCTCTCTGTCTCTGTCTCTCTGTCTCTG TCTCTCTCTGTCTCTGCTTCTCTCTGTCTCTCTCTTTGTCCCTCTCTGTC TCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTC TGTCTCTCCCTGTCTCTGTCTCTCTGTCACTGTCTCTGCCTCTGTCTCTG CCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTTTC AGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGTCTC TGTCTCTCTGTCTCTGCCTATCTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(695): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	322	0.0031	702	c.909 others(717): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SRXN1_chr20_641615_658200	642200	G G	GGGGGGCC others(695): Show GGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTT GCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGAGGCC CAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTG CCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGG GGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTG CCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG02300.hp2 HG03017.hp1 HG01361.hp1 HG02300.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0082 a0001c0001t0003g0003 a0001c0001t0003g0082	3	422	0.0071	702	c.65 others(713): Show c.6513_*6514insAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAAC TCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCG CTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCA ACCCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCC ACCCCCGCTGGGGCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4414		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(695): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGG GGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGCCCAGCGGGGGGTGGAGTTGCCTGGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGC CCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGC CTGGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGGCCCAGC GGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGC CCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	422	0.0024	702	c.64 others(713): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCCGCTGGGCCCCCCCCCCAGGCAACCCCACCCC CGCTGGGCCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCCGCTGG GCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCC CCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SUDS3_chr12_118371555_118423033	118421950	C C	CTTCTTCT others(695): Show CTTCTTCTTTTCTCTTTCTCTTTCTTTCTTCGTCTTTCTTCTTCTTCTGC TTTTCTCTTTTTCTTTTTCTTTTTTTTTTTCTTTTTTCTTCTGCTCTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTCCTGTTCT TTCTCTTTTCTTTTCTTTTCTCTCTTTCTTTGTTTTCTTTCTTCTTCTCT TTCTCTTCTTTTCTCTTCTTCTTTTCTTTTTCTTCTTTTCTCTTTCTCTT TCTTCTTTTTTTCTCTCTTTTCTTCTTTCTTTCTCTTATTCTCTCTTCTT TCTCTTCTCTATTCTGTGTCTCTTTCTTCTATCTTCTCTCTCTCTCGTTG CTGTCTTTTCTTCTTCTTTTTTCTCTCTCTTCTTTTCTTATTTCTCTCTT CTTTCTTCTTTCTTCTCTCTTGTTTCTTCTTTTCTCTATTCTCTTCTTCT CTTCTCTTCTTTTTTTCTCTCTCTTCTCTTTCTTCTCTCTTCTTCTCTTC TCTCTCTTCTTTCTTCCTTTCATTTCTCTTCTTTCTTTCTTCTTTCTCTC TTTTCCCTTCTTCTTTTTCTCTCTCTCTTTTTTCTTTCTTCTCTTTCTTT TTCTTTCGTCTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT TTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0301 a0001c0001t0006g0301	1	408	0.0025	702	c.75 others(713): Show c.7517_*7518insTTCTTCTTTTCTCTTTCTCTTTCTTTCTTCGTCT TTCTTCTTCTTCTGCTTTTCTCTTTTTCTTTTTCTTTTTTTTTTTCTTTT TTCTTCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTCTCCTGTTCTTTCTCTTTTCTTTTCTTTTCTCTCTTTCTTTGTTT TCTTTCTTCTTCTCTTTCTCTTCTTTTCTCTTCTTCTTTTCTTTTTCTTC TTTTCTCTTTCTCTTTCTTCTTTTTTTCTCTCTTTTCTTCTTTCTTTCTC TTATTCTCTCTTCTTTCTCTTCTCTATTCTGTGTCTCTTTCTTCTATCTT CTCTCTCTCTCGTTGCTGTCTTTTCTTCTTCTTTTTTCTCTCTCTTCTTT TCTTATTTCTCTCTTCTTTCTTCTTTCTTCTCTCTTGTTTCTTCTTTTCT CTATTCTCTTCTTCTCTTCTCTTCTTTTTTTCTCTCTCTTCTCTTTCTTC TCTCTTCTTCTCTTCTCTCTCTTCTTTCTTCCTTTCATTTCTCTTCTTTC TTTCTTCTTTCTCTCTTTTCCCTTCTTCTTTTTCTCTCTCTCTTTTTTCT TTCTTCTCTTTCTTTTTCTTTCGTCTTCTCTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTT TTTTTTTTTTTTTTTTTT	SUDS3	ENSG00000111707.12	transcript	ENST00000543473.2	protein_coding		3918		chr12	TogoVar
SUFU_chr10_102498972_102638535	102637537	T T	TATATATA others(695): Show TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATATATTATATATTTATATTTA TATATTATTATAAACATATAATTATATATATTATATTATGATTATAAAAT ATAATTTATATATGATTATAAAATAGAATTTAGTATGATTATAAAATATA ATTACTATATGATATAAAATATAATTATATTGATTATAATCATGATTAAT TATATTTTATAATCATATATAATTATTTATAATCATATATAATTATATTT ATATAATCATATATAATTATATTTGTATAATCATATATTATATTTATAAT TATATTTATATAATATATATAATAATATATATATATAATTATATTTTATA ATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0220 a0001c0003t0003g0220	1	268	0.0037	702	c.73 others(713): Show c.7382_*7383insATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATAACTATATATT ATATATAATATATATATTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATTTATATTTATATATTATTATAAACATATAATTATATATATTATA TTATGATTATAAAATATAATTTATATATGATTATAAAATAGAATTTAGTA TGATTATAAAATATAATTACTATATGATATAAAATATAATTATATTGATT ATAATCATGATTAATTATATTTTATAATCATATATAATTATTTATAATCA TATATAATTATATTTATATAATCATATATAATTATATTTGTATAATCATA TATTATATTTATAATTATATTTATATAATATATATAATAATATATATATA TAATTATATTTTATAATC	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4003		chr10	TogoVar
SULT2B1_chr19_48547172_48604423	48583017	C C	CGTGCGTG others(695): Show CGTGCGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCA CCTGAGCCTAGAAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCATAACA CTCCAGCCTGGGGAAGAGTAAGACCTTGACTCAGAAAACAAAACAAAACA AAACAAAACAAAACAGCCGGGCATGGTGGCATGTACCTGGAATCCCAGCT ACTCAGGAGGTTGAGGCTCAATCATCACTTGACCCCGGGAGGTGGAGGTT GCAGTGAGCCGAGATTGCACCACTGAACTGCAGCCTGGATGACAGAGCGA GAGTATGTCTCAGAGAGAGAGAAAGAGAGAGAGAGAAAGAGAGAGAGAGA AAGAATTATTTGCACACATTACGTGGCTATTATTTAGAAAATAACATGTG GCCAGGTGCAGTGGCTCATACCTATAATCCCAACACTTTGGGAGGCCGAA GTGGGAGGATTGCTTGAGCCCAGGATTTCAAGACCAGCCTGGGCAACATA GCGAGACCCTGTCTCTGTTAAAAAAAAATTTTTTTGTAAGAAAAAAAACA GAATAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAACACTTCGGGAG GCTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACT AACATGGAGAAACCCCATCTCTACTAAAAATACAAAGTTAGCTGGGCGTG GTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00733.hp1 others(77): Show HG00099.hp2 HG00140.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01884.hp2 HG02055.hp1 HG02071.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18950.hp1 NA18957.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA19002.hp2 NA19007.hp2 NA19056.hp2 NA19081.hp1 NA19091.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0003c0011	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0010t0001 a0003c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(76): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0101 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0152 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0258 a0001c0001t0001g0346 a0001c0001t0001g0355 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0368 a0001c0001t0001g0373 a0001c0002t0001g0003 a0001c0002t0001g0034 a0001c0003t0001g0137 a0001c0004t0001g0045 a0001c0004t0001g0062 a0001c0004t0001g0064 a0001c0004t0001g0065 a0001c0004t0001g0068 a0001c0004t0001g0072 a0001c0005t0001g0001 a0001c0005t0001g0019 a0001c0005t0001g0071 a0001c0005t0001g0108 a0001c0005t0001g0109 a0001c0005t0001g0113 a0001c0005t0001g0173 a0001c0005t0001g0197 a0001c0005t0001g0209 a0001c0005t0001g0213 a0001c0005t0001g0235 a0001c0005t0001g0236 a0001c0005t0001g0255 a0001c0005t0001g0313 a0001c0005t0001g0349 a0001c0006t0001g0006 a0001c0006t0001g0020 a0001c0006t0001g0028 a0001c0006t0001g0038 a0001c0006t0001g0044 a0001c0006t0001g0061 a0001c0006t0001g0094 a0001c0006t0001g0250 a0001c0007t0001g0033 a0001c0007t0001g0057 a0001c0007t0001g0110 a0001c0007t0001g0111 a0001c0007t0001g0161 a0001c0007t0001g0166 a0001c0007t0001g0200 a0001c0007t0001g0356 a0001c0007t0001g0357 a0001c0010t0001g0037 a0001c0010t0001g0112 a0003c0011t0001g0043 a0003c0011t0001g0059	80	376	0.2128	702	c.215 others(719): Show c.215-4208_215-4207insGTGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGTGGGAGAATCACCTGAGCCTAGAAGGTTGAGGCTGCAGTGAGCC ATGATTGTGCCATAACACTCCAGCCTGGGGAAGAGTAAGACCTTGACTCA GAAAACAAAACAAAACAAAACAAAACAAAACAGCCGGGCATGGTGGCATG TACCTGGAATCCCAGCTACTCAGGAGGTTGAGGCTCAATCATCACTTGAC CCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGAACTGCAG CCTGGATGACAGAGCGAGAGTATGTCTCAGAGAGAGAGAAAGAGAGAGAG AGAAAGAGAGAGAGAGAAAGAATTATTTGCACACATTACGTGGCTATTAT TTAGAAAATAACATGTGGCCAGGTGCAGTGGCTCATACCTATAATCCCAA CACTTTGGGAGGCCGAAGTGGGAGGATTGCTTGAGCCCAGGATTTCAAGA CCAGCCTGGGCAACATAGCGAGACCCTGTCTCTGTTAAAAAAAAATTTTT TTGTAAGAAAAAAAACAGAATAGGCCAGGCGCAGTGGCTCATGCCTGTAA TCCCAACACTTCGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCAGGAGT TTGAGACCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAAAATAC AAAGTTAGCTGGGCGTGGTGGTGC	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SULT2B1_chr19_48547172_48604423	48583031	G G	GTCCCAGC others(695): Show GTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCACCTGAGCCTAGAAG GTTGAGGCTGCAGTGAGCCATGATTGTGCCATAACACTCCAGCCTGGGGA AGAGTAAGACCTTGACTCAGAAAACAAAACAAAACAAAACAAAACAAAAC AGCCGGGCATGGTGGCATGTACCTGGAATCCCAGCTACTCAGGAGGTTGA GGCTCAATCATCACTTGACCCCGGGAGGTGGAGGTTGCAGTGAGCCGAGA TTGCACCACTGAACTGCAGCCTGGATGACAGAGCGAGAGTATGTCTCAGA GAGAGAGAAAGAGAGAGAGAGAAAGAGAGAGAGAGAAAGAATTATTTGCA CACATTACGTGGCTATTATTTAGAAAATAACATGTGGCCAGGTGCAGTGG CTCATACCTATAATCCCAACACTTTGGGAGGCCGAAGTGGGAGGATTGCT TGAGCCCAGGATTTCAAGACCAGCCTGGGCAACATAGCGAGACCCTGTCT CTGTTAAAAAAAATTTTTTTTGTAAGAAAAAAAACAGAATAGGCCAGGCG CAGTGGCTCATGCCTGTAATCCCAACACTTCGGGAGGCTGAGGCAGGCAG ATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAACATGGAGAAACC CCATCTCTACTAAAAATACAAAGTTAGCCGGGCGTGGTGGTGCATGCCTG TAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0090 a0001c0006t0001g0090	1	376	0.0027	702	c.215 others(719): Show c.215-4174_215-4173insTGGGAGAATCACCTGAGCCTAGAAGGTT GAGGCTGCAGTGAGCCATGATTGTGCCATAACACTCCAGCCTGGGGAAGA GTAAGACCTTGACTCAGAAAACAAAACAAAACAAAACAAAACAAAACAGC CGGGCATGGTGGCATGTACCTGGAATCCCAGCTACTCAGGAGGTTGAGGC TCAATCATCACTTGACCCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTG CACCACTGAACTGCAGCCTGGATGACAGAGCGAGAGTATGTCTCAGAGAG AGAGAAAGAGAGAGAGAGAAAGAGAGAGAGAGAAAGAATTATTTGCACAC ATTACGTGGCTATTATTTAGAAAATAACATGTGGCCAGGTGCAGTGGCTC ATACCTATAATCCCAACACTTTGGGAGGCCGAAGTGGGAGGATTGCTTGA GCCCAGGATTTCAAGACCAGCCTGGGCAACATAGCGAGACCCTGTCTCTG TTAAAAAAAATTTTTTTTGTAAGAAAAAAAACAGAATAGGCCAGGCGCAG TGGCTCATGCCTGTAATCCCAACACTTCGGGAGGCTGAGGCAGGCAGATC ACCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAACATGGAGAAACCCCA TCTCTACTAAAAATACAAAGTTAGCCGGGCGTGGTGGTGCATGCCTGTAA TCCCAGCTACTTGGGAGGCTGAGG	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(695): Show CTATTATATACATTATATATAATATACCTATTATATGCATTATATATAAT ATACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATA TAATATACCTATTATATGCATTATATATAATATACCTATTATATGCATTA TATAATATATTATATATAATATGCATATTATATGTATTATATATTATATA TTATATATATAATATACATATTATATGTATTATATATTATATATTATATA TATAATATACATATTATATGTATTATATATTATATATAATATACATATTA TATATTATATATTATATACATATTATATATTATATATTATATACATATTA TATATTATATACATATTATATATTATATATTATATACATATTATACATTA TATATATCTAAAATATATAATACACATTATATATTATATAATACACATTA TATATAATATATAATACACATTATATATTATATATAATACACATTATATA TTATATATAATACACATTATATATTATATAATACACATTATATATTATAT ATAATACACATTATATATTATATATAATACACATTATATATTATATATAA TACACATTATATATTATATAATACACATTATATATTATATATAATACACA TTATATATATAATACACATTATATATTATATATAATACATAATACACATT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	360	0.0028	702	c.62 others(713): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATTATATATAATGTGTATTATATAATATATAATGTGTAT TATATATTTTAGATATATATAATGTATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATGTATATAATATATAATATATAATAT GTATATAATATATAATATATAATATGTATATTATATATAATATATAATAC ATATAATATGTATATTATATATATAATATATAATATATAATACATATAAT ATGTATATTATATATATAATATATAATATATAATACATATAATATGCATA TTATATATAATATATTATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTA TATATAATGTATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
THEGL_chr4_56525606_56608507	56577098	A A	ATGAGATA others(695): Show ATGAGATATTTGCTTCTCATAGTTATTTCTGTCATTTCTCTTTTTGTCAA GGGAATAGTCTCTAATCAACCACTTTTTAAATCTTCTGCAAATTGGAAGC AGATCACCAAGCTTGTTATAATTATGTGAAGGAAAAAAGCAAGCGCTTAG TGAAGATACACAGGGCTGTCCAATAGATTACAAATATGAGCCTGGATTTT GTGACATATATTTTAGTTGATTAACTAAAGGAGCTCAACTACATATTTGA GGAAGTAGAAGAAATAATCAGCAAACTTCAACACAGGTCAATTGAGATTA TCAAGTCTGAGAAACAGAAAAGAAAAAAAATGAAGTAAAAAGAACACATC TTCAGAGACTTGTGTGACACTTTGAAGAGTATCAACGTAGCCATAATGGA AATCCCATAGCAGAGGAGAGAGATCAAGGGGTGGGAGAAATATTTGAAGA AATAATGGCCCAAAACCATCCTAAATTTGATGAAAAATATTGCACATCCA TGAAACTCAATACACTCCAAATAGGATAAACTCAAAGAGATTCAGAACTT GACACATCGTGATCAAACTGTTGACAGCCAACGACAAAAAGAAAATCTTG AAAGCAGCAAGAGAAAAACAACTCATTGTATACAAATGATTTGCAATAAG GTTAAGAGGTGATTTCTTATCAGAAACCATGAAGGCCAGAAGGCAGTAGT ATG	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19030.hp1 HG01243.hp2 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0152 a0001c0005t0002g0153 a0001c0005t0002g0152 a0001c0005t0002g0153	2	384	0.0052	702	c.860 others(719): Show c.860+1456_860+1457insTGAGATATTTGCTTCTCATAGTTATTTC TGTCATTTCTCTTTTTGTCAAGGGAATAGTCTCTAATCAACCACTTTTTA AATCTTCTGCAAATTGGAAGCAGATCACCAAGCTTGTTATAATTATGTGA AGGAAAAAAGCAAGCGCTTAGTGAAGATACACAGGGCTGTCCAATAGATT ACAAATATGAGCCTGGATTTTGTGACATATATTTTAGTTGATTAACTAAA GGAGCTCAACTACATATTTGAGGAAGTAGAAGAAATAATCAGCAAACTTC AACACAGGTCAATTGAGATTATCAAGTCTGAGAAACAGAAAAGAAAAAAA ATGAAGTAAAAAGAACACATCTTCAGAGACTTGTGTGACACTTTGAAGAG TATCAACGTAGCCATAATGGAAATCCCATAGCAGAGGAGAGAGATCAAGG GGTGGGAGAAATATTTGAAGAAATAATGGCCCAAAACCATCCTAAATTTG ATGAAAAATATTGCACATCCATGAAACTCAATACACTCCAAATAGGATAA ACTCAAAGAGATTCAGAACTTGACACATCGTGATCAAACTGTTGACAGCC AACGACAAAAAGAAAATCTTGAAAGCAGCAAGAGAAAAACAACTCATTGT ATACAAATGATTTGCAATAAGGTTAAGAGGTGATTTCTTATCAGAAACCA TGAAGGCCAGAAGGCAGTAGTATG	THEGL	ENSG00000249693.3	transcript	ENST00000512175.3	protein_coding	5/8			chr4	TogoVar
TP73_chr1_3647516_3741201	3694741	C C	CGCAATCC others(695): Show CGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCT GCAGCCTCAGCCCCTCCTCCCGCAATCCCACCCATGCAGCCTCAGCCCCT CCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCA GCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAG CCCCTCCTCCCGAAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAA TCCCAGCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGC CTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTC CTGCAATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCC TGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCC TCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCC AGCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCAC AATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCACCCATGCA TCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCT CCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	358	0.0028	702	c.186 others(721): Show c.186+11570_186+11571insCCCATGCAGCCTCAGCCCCTCCTCCC GCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCACCCATG CAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTC CTCCCGCAATCCCAGCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCCAG CCATGCAGCCTCAGCCCCTCCTCCCGAAATCCCAGCCCTGCAGCCTCAGC CCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCTGCAAT CCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGC CTCAGCCCCTCCTCCTGCAATCCCACCCATGCATCTTCAGCCCCTCCTCC CGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCT GCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCT CCTCCCGCAATCCCAGCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCCA GCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAG CCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCA ATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAG CCTCAGCCCCTCCTCCTGCAATCCCA	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM28_chr19_58539064_58555715	58539222	A A	ACCTGCTT others(695): Show ACCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCC TCCTCAGACATGATTCTTCTCACACACACCCTGCTTCCCTCCTCAGACAG GATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTTCTCA CACACACCCTGCTTCCCTCCTCAGACGGGATTCTCCCCCCACACACCCTG CTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTC AGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTC TCCCCACACAGAACCTGCTTCCCTCCTCAGACAGGATTCTTCTCACACAC ACCCTGCTTCCCTCCTCAGACGGGATTCTCCCCCCACACACCCTGCTTCC CTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACA GGATTCTTCTCACACACACCCTGCTTCCCTCCTCAGACGGGATTCTCCCC CCACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCT GCTTCCCTCCTCAGACAGGATTCTTCTCACACACACCCTGCTTCCCTCCT CAGACAGGATTCTCCCCACACAGAACCTGCTTCCCTCCTCAGACAGGATT CTCCCCACACACACCCTGCTTCCCTCCTCAGACATGATTCTTCTCACACA CAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	402	0.0025	702	c.-55 others(713): Show c.-5536_-5535insCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACA CACACCCTGCTTCCCTCCTCAGACATGATTCTTCTCACACACACCCTGCT TCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAG ACAGGATTCTTCTCACACACACCCTGCTTCCCTCCTCAGACGGGATTCTC CCCCCACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACAC CCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCT CCTCAGACAGGATTCTCCCCACACAGAACCTGCTTCCCTCCTCAGACAGG ATTCTTCTCACACACACCCTGCTTCCCTCCTCAGACGGGATTCTCCCCCC ACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGC TTCCCTCCTCAGACAGGATTCTTCTCACACACACCCTGCTTCCCTCCTCA GACGGGATTCTCCCCCCACACACCCTGCTTCCCTCCTCAGACAGGATTCT CCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTTCTCACACACA CCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGAACCTGCTTCCC TCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACAT GATTCTTCTCACACACAC	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		4841		chr19	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(695): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0063 a0006c0008t0063	a0006c0008t0063g0044 a0006c0008t0063g0044	1	174	0.0058	702	c.41- others(719): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204105	T T	TATTATAT others(695): Show TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATATACTATATCATCATATGATATACTATATCATCATATGATATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0022 a0001c0001t0062g0022	1	174	0.0058	702	c.41- others(719): Show c.41-49392_41-49391insTATATCATCATATGATGATATACTATTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATATACTATATCATCATATGATATACTATA TCATCATATGATATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(695): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCT TCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCC TTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCC CTTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCT CTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCT TTC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	334	0.0030	702	c.657 others(717): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCCT TCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCC TTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCC CTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCC CCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCC CCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCT CCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGAGGCT others(695): Show CGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATG GGGGTCGGGTGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGATGGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGG TCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGG AGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGT CGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGA GGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGG GATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGG CTTGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACG GGGGTCGGGTGGGGCTCAGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	344	0.0029	702	c.218 others(719): Show c.2182+106_2182+107insGAGGCTGTGGGATGGGGCTCGGAGGCTG TGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGG GGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGGTCGGGTGGGGCT TGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTT GGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCAGAGGCTGTGGGA TGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTG GGACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(695): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTT ATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTA GTTTATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0095 a0001c0001t0025g0095	1	250	0.0040	702	c.82+ others(717): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATA TATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATT TATATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATA TATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATA TATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACA TATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACA TATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAA TACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTA TAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATAT TTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
USP7_chr16_8887097_8968906	8953704	G G	GTGCGGCG others(695): Show GTGCGGCGCCACCGGAGGGAGAGGGAAGACACGTGCCCCGTGCGGCGCCA CCGGAGGCAGAGGGAAGACACGTGCCCCGTGCGGCGCCACCGGAGGCAGA GGGAAGACACGTGCCCCGTGCGGCGCCACCGGAGGCAGAGGGAAGACACG TGCCCCCTGCGGCGCCACCGGAGGCAGAGGGAAGACACGTGCCCCCTGCG GCGCCACCGGAGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCACCGGA GGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCACCGGAGGCAGAGGGAA GACACGTGCCCCCTGCGGCGCCACCGGAGGCAGAGGGAAGACACGTGCCC CCTGCGGCGCCACCGGAGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCC ACCGGAGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCACCGGAGGCAG AGGGAAGACACGTGCCCCATGCGGCGCCACCGGAGGCAGAGGGAAGACAC GTGCCCCCTGCGGCGCCACCGGAGGCAGAGGGAAGACACGTGCCCCCTGC GGCGCCACCGGAGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCACCGG AGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCACCGGAGGCAGAGGGA AGACACGTGCCCCATGCGGCGCCACCGGAGGCAGAGGGAAGACACGTGCC CCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0053 a0001c0001t0022g0053	1	338	0.0030	702	c.79+ others(717): Show c.79+9502_79+9503insGGGGGCACGTGTCTTCCCTCTGCCTCCGGT GGCGCCGCATGGGGCACGTGTCTTCCCTCTGCCTCCGGTGGCGCCGCAGG GGGCACGTGTCTTCCCTCTGCCTCCGGTGGCGCCGCAGGGGGCACGTGTC TTCCCTCTGCCTCCGGTGGCGCCGCAGGGGGCACGTGTCTTCCCTCTGCC TCCGGTGGCGCCGCAGGGGGCACGTGTCTTCCCTCTGCCTCCGGTGGCGC CGCATGGGGCACGTGTCTTCCCTCTGCCTCCGGTGGCGCCGCAGGGGGCA CGTGTCTTCCCTCTGCCTCCGGTGGCGCCGCAGGGGGCACGTGTCTTCCC TCTGCCTCCGGTGGCGCCGCAGGGGGCACGTGTCTTCCCTCTGCCTCCGG TGGCGCCGCAGGGGGCACGTGTCTTCCCTCTGCCTCCGGTGGCGCCGCAG GGGGCACGTGTCTTCCCTCTGCCTCCGGTGGCGCCGCAGGGGGCACGTGT CTTCCCTCTGCCTCCGGTGGCGCCGCAGGGGGCACGTGTCTTCCCTCTGC CTCCGGTGGCGCCGCAGGGGGCACGTGTCTTCCCTCTGCCTCCGGTGGCG CCGCACGGGGCACGTGTCTTCCCTCTGCCTCCGGTGGCGCCGCACGGGGC ACGTGTCTTCCCTCTGCCTCCGGTGGCGCCGCACGGGGCACGTGTCTTCC CTCTCCCTCCGGTGGCGCCGCA	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
VCX2_chrX_8164944_8176267	8169206	C C	CCCCTCCC others(695): Show CCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCA CCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTC CTCTTCCCCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTT CCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCAC ACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACA CACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCC TCCCTCCCTCCCCACACACCTCCTCTTCCCCCCTCCCTCCCTCCCCACAC ACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCAC CTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTC CCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTT CCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0062 a0004c0004t0003g0062	1	115	0.0087	702	c.82 others(711): Show c.825_*826insAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		737		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169859	T T	TCCTCCCT others(695): Show TCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACA CCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCT CCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCT TCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTC CCCACACACCTCTTCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACA CCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTC CCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACA CCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTTCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACA CCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTC CCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCC CCACACACCACCTCTTCCCCCCTCCCTCCCTCCCCACACACCACCTCTTC CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0004	1	115	0.0087	702	c.17 others(711): Show c.172_*173insGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		84		chrX	TogoVar
VSIG1_chrX_108040065_108084184	108041555	T T	TGTGTGTG others(695): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGCATGTGTACATGCATA GAAAAAGGTCTGAGAAAAATGCTAAACTCCTGTTCCATGTGAGCCTGGGA AAGGGATTACATGTGTGAGTGAATGAATGGGACTTTTTTTCCTCTGTATC CTTGTTTGTCCTTTGAAAACCATTTACTATCAAAATGTATTACTTTTGTA ATTTTTAAGTTAAAAATGAGGGATAAATCAGATATCACATATTTCTGAAA GTTCCCAAGGAAGAATACTGGGGGCAGTAGCATATTTGTTACATTACAAT CACACCGTGCCATTGTGTGGTGTGATAGGAACAGCTTCTAATGCGTGCTA TGGTGACCTTGGGAAAAGCACAGCACTTTTGAGCCTCAGTTTTCTTATAT AGAAAATGTAGGTATACCTGACTTATTTGTTGTATTGGAAAGCTACATGT TCATTGAACCATTGTCAATAATATTGAAAAACTGGAAACCATCTAAGAAT TTACCAATAAGAGAATGATTAAATAAATTGAGGTACATTCATATCATGAA ATACCATGCAGCCTTAACATGGACAAGGTTGATCTATAGATGCAGTTGGA CCCAGTGACAGAAAGAGAGAATAAAAATACCTTTTTTAAGGGAGAAAAGC CAATTATAGAACAAAATGTACAGTATTATCATCTTTATGTTTTAAAAAAC CTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	281	0.0036	702	c.-35 others(713): Show c.-3576_-3575insGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGC ATGTGTACATGCATAGAAAAAGGTCTGAGAAAAATGCTAAACTCCTGTTC CATGTGAGCCTGGGAAAGGGATTACATGTGTGAGTGAATGAATGGGACTT TTTTTCCTCTGTATCCTTGTTTGTCCTTTGAAAACCATTTACTATCAAAA TGTATTACTTTTGTAATTTTTAAGTTAAAAATGAGGGATAAATCAGATAT CACATATTTCTGAAAGTTCCCAAGGAAGAATACTGGGGGCAGTAGCATAT TTGTTACATTACAATCACACCGTGCCATTGTGTGGTGTGATAGGAACAGC TTCTAATGCGTGCTATGGTGACCTTGGGAAAAGCACAGCACTTTTGAGCC TCAGTTTTCTTATATAGAAAATGTAGGTATACCTGACTTATTTGTTGTAT TGGAAAGCTACATGTTCATTGAACCATTGTCAATAATATTGAAAAACTGG AAACCATCTAAGAATTTACCAATAAGAGAATGATTAAATAAATTGAGGTA CATTCATATCATGAAATACCATGCAGCCTTAACATGGACAAGGTTGATCT ATAGATGCAGTTGGACCCAGTGACAGAAAGAGAGAATAAAAATACCTTTT TTAAGGGAGAAAAGCCAATTATAGAACAAAATGTACAGTATTATCATCTT TATGTTTTAAAAAACCTC	VSIG1	ENSG00000101842.14	transcript	ENST00000217957.10	protein_coding		3509		chrX	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(695): Show AATATATAATATATATAATATATATAATATAATATAATGCAATATATAAT AATTATATAATATAATATATAATATATAATATATATTATATATTATATAT AATATATATTATATATTATATATAATAATATAATATATAATATACATTAT ATAATAATATAATATATAATATACATTATATAATAATATAATGTATATTA TATAATAATAATGTAATATATAACATATATTATATAATAATAATATAATA TATATTATATAATTAATATAATATATAATATATTTTATATAATAATAATA TAATATATATTATATAATTAATATAATATATAATATATATTATATAATAA TAATATAATATATATAATAATTATATAATATAGTATATAATATATATTAT ATAATAATAATATAATATATATAATAATTATATAATATATATTATATAAT AATAATATAATATATATAATAATTATATAATATTAGAATATATATTATAC AATAATAATATAATATATTATACAATAATAATATAATATATATATAATTA TATAATATAATATATATAATAATAATATAATATAATATATAATATATATT ATATAGTAATAATATAATATAATATATAATATATATTATATAGTAATAAT ATAATATAATATATAATATATATTATATGATAATATAATATAATATATAT TAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	218	0.0046	702	c.55+ others(717): Show c.55+2822_55+2823insATAATATATATTATATTATATTATCATATA ATATATATTATATATTATATTATATTATTACTATATAATATATATTATAT ATTATATTATATTATTACTATATAATATATATTATATATTATATTATATT ATTATTATATATATTATATTATATAATTATATATATATTATATTATTATT GTATAATATATTATATTATTATTGTATAATATATATTCTAATATTATATA ATTATTATATATATTATATTATTATTATATAATATATATTATATAATTAT TATATATATTATATTATTATTATATAATATATATTATATACTATATTATA TAATTATTATATATATTATATTATTATTATATAATATATATTATATATTA TATTAATTATATAATATATATTATATTATTATTATATAAAATATATTATA TATTATATTAATTATATAATATATATTATATTATTATTATATAATATATG TTATATATTACATTATTATTATATAATATACATTATATTATTATATAATG TATATTATATATTATATTATTATATAATGTATATTATATATTATATTATT ATATATAATATATAATATATATTATATATAATATATAATATATATTATAT ATTATATATTATATTATATAATTATTATATATTGCATTATATTATATTAT ATATATTATATATATTATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(695): Show CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCCTCCCC CTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTT CCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCTTCCC CCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTT CCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCTCCTTCCCCC CTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	246	0.0041	702	c.-10 others(719): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC CTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTC CCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCTCCT TCCCCCCTTCCCCCTTCCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ABR_chr17_998519_1184981	1172976	A A	AACACATC others(696): Show AACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCAACACA TCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCT CAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCC ACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCAC CCCCCCCATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCC CATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATC ACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCAACACATCACCT CAGTCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCC ACCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACA CATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACA TCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCAACACATCAC CTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCCATCACCTCAGCC CACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACC CCCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	337	0.0030	703	c.61+ others(718): Show c.61+6690_61+6691insGGGGGGTGGACTGAGGTGATGTGTGGGGGG TGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGTGGACTG AGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGA TGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATG TGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTG TGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGG GTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGC TGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGT GATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTT GGGTGGACTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTGGGGGGT GGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGC TGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTG TTGGGTGGACTGAGGTGATGTGT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173286	C C	CCAACACA others(696): Show CCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCC GACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACA CATCACCTCAGCCCACCCAACACGTCACCTCAGCCCACCCAACACATCAC CTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTC AGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGTCCA CCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAAC ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCA CCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAACACATCACCT CAGTCCACTCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCC ACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGTCCACCCCC CCCATCACCTCAGCCCACTCAACACATCACCTCAGCCCACCCAACACGTC ACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCA GTCCACCCCCCGCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTC CACT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0031 a0001c0001t0022g0031	1	337	0.0030	703	c.61+ others(718): Show c.61+6380_61+6381insAGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAG GTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATG TGTTGAGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGA GTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGAC TGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGT GATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGAT GTGTTGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTG GGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGAGTGGA CTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTG AGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGA CGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTG GGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTG GGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGG GGGTGGACTGAGGTGATGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
B4GALNT4_chr11_364499_387117	375001	G G	GAGGGAGG others(696): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG AGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGTGGAAGGGAG GGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0149 a0002c0002t0001g0151	2	184	0.0109	703	c.784 others(718): Show c.784-453_784-452insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGA GGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C11orf24_chr11_68256338_68276973	68264684	C C	CTATCCAT others(696): Show CTATCCATCCATCCACCCACCCACCCCATCCATCCACCCACTCATCCATC CATCCATCCATCCATCCTTCTATCCATCTACTCATCTGTCCATCCATCCA TCCATCCACCCACAACCATCCACCCACCCACTCTTCCATCCATCCATCCA CCCACTATTCTATACATCTACTCATCTGTCCATCCATAGGTTCACTCATC CATCCATCCATCCATCTACCCACCCACCCATCCATCTATCCACTATTCTA TTCATCTATTCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATC CATTCATCCATCCATCCACTCATCCACTTTTCCATCCATCTACTCATCTG TCCATCCACCCACCCATGCATCCATCCATCCACCCACCTGTCCATCCACC CATCCACCCACCCACCCGTCCATCCACCCACCCATCCGTCCATCCACCCA TCCATCCACCCACCCACCCACCCATCCATCCATCCACCCACCCACCCACC CATCCACCCACCCACTCACCCATCCATCCATCCATCCACCCATCCATCCA TCCATCCATCCACCCATCCATCCATCCACCCACCCATCTATCCATCCATC CATCCACCCACCCACCCACCCATACACTCATCCATCCATCCATCCATCCA TCCATCCATCCATCCACCCATCCATCCATCCATCCATCCACCCACCCACA CACT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	400	0.0025	703	c.-99 others(718): Show c.-99-819_-99-818insAGTGTGTGGGTGGGTGGATGGATGGATGGA TGGATGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGAGTG TATGGGTGGGTGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGGTGGATGGATGGATGGATGGATGGGTGGATGGATGGATG GATGGGTGAGTGGGTGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGGA TGGGTGGGTGGGTGGGTGGATGGATGGGTGGATGGACGGATGGGTGGGTG GATGGACGGGTGGGTGGGTGGATGGGTGGATGGACAGGTGGGTGGATGGA TGGATGCATGGGTGGGTGGATGGACAGATGAGTAGATGGATGGAAAAGTG GATGAGTGGATGGATGGATGAATGGATGGATGGATGGATGGATGGATGGA TGGATGGACAGATGAATAGATGAATAGAATAGTGGATAGATGGATGGGTG GGTGGGTAGATGGATGGATGGATGGATGAGTGAACCTATGGATGGACAGA TGAGTAGATGTATAGAATAGTGGGTGGATGGATGGATGGAAGAGTGGGTG GGTGGATGGTTGTGGGTGGATGGATGGATGGATGGACAGATGAGTAGATG GATAGAAGGATGGATGGATGGATGGATGGATGAGTGGGTGGATGGATGGG GTGGGTGGGTGGATGGATGGATA	C11orf24	ENSG00000171067.11	transcript	ENST00000304271.11	protein_coding	2/3			chr11	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(696): Show GTCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCACGGATCCTGGGGATCT GTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCACCCCT GCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGAACGGAT CCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGT CCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGC TGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCC TGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCC ACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTG GGAACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTG GGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCAC CGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGG CCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGG GGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCG TCTCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCACCCCTGCTGGGCC CGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0036 a0001c0001t0043g0036	1	322	0.0031	703	c.-17 others(714): Show c.-1799_-1798insTCCGGGCCCAGCAGGGGTGGTGGACAGATCCCCA GGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCA GCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGG ACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGG ATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGC AGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGAC AGACCCCCAGGATCCGTTCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCC GTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAG ACGGTGGACAGACCCCCAGGATCCGTTCCCAGCAGGGGCGGTGGACAGAC CCCCAGGATCCGGGCCCAGCAGGGGTGGTGGACAGACCCCCAGGATCCGG GCCCAGCAGTGACGGTGGACAGATCCCCAGGATCCGTGCCCAGCAGAGAC GGTGGACAGACCCCCAGGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	410782	T T	TGCCCCTA others(696): Show TGCCCCTACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGG CCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGG GGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCG TCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTACTGGGCA CGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGG TCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCC CCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTC TGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGA TCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTG TCCACCGCCCCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTG CTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATC CTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTC CACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01934.hp1 HG01070.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0063 a0001c0002t0022 a0001c0002t0063	a0001c0002t0022g0024 a0001c0002t0063g0126 a0001c0002t0022g0024 a0001c0002t0063g0126	2	322	0.0062	703	c.-18 others(714): Show c.-1818_-1817insGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGG GGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGA CCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCG GGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGG CGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACC CCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGG CCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACG GTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCC CAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCC CAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGT GGACAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCA GGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCA GCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGG ACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGG ATCCGTGCCCAGTAGGGGC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1636		chr19	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(696): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCACCAC CATCACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCT CACCATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCT CACCATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCA CCACCACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATC ATCATCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCAC CAGCACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCAT CACCACCATCATCACCACCACCATCACCACCACCATCACCATCACCATCA CCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACCACCA TCACCACCACCATCACCATCACCATCACCACCATCATCATCACCACCATC ACCACCACCACCACCACCATCATCACCATCACCACCAGCACCACCACCAA CATCATCATCATCACCACCACCACCACCATCACCACCACCACCACCATCA ACACCACCATCACCACCACCATCATCATCACCACCACCACCATCACCACC ATCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG06807.hp2 HG02486.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0194 a0001c0001t0002g0195	2	376	0.0053	703	c.63+ others(716): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGA TGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATG GTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGT GATGGTGAGATGGTGGTGATGGTGATGGTGATGGTGATGGTGGTGGTGAT GGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGAGATGGTGGTGAT GGTGGTGGTGATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGG TGGTGATGGTGGTGATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTG CTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGAT GGTGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGGTGATGGTGAT GATGATGGTGGTGGTGATGGTGAGATGGTGGTGATGGTGGTGGTGGTGGT TATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGG TGGTTATGGTGGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTGATG ATGGTGATGATGATGGTGGTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CCDC141_chr2_178824757_179055137	178903090	T T	TAAAAAGT others(696): Show TAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAA CACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAG TCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCC AGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATACTGCT ATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCA AAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAA AATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATG AGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTC AGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCAT AGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCA CACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGG GAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCA TGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCC TAAAACTTAGAGTATAATAAAAAAAAACAAAACAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01496.hp2 HG01928.hp2 HG01346.hp1 HG01496.hp2 HG01928.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0046 a0003c0004t0004 a0003c0004t0046	a0003c0004t0004g0021 a0003c0004t0004g0025 a0003c0004t0046g0027 a0003c0004t0004g0021 a0003c0004t0004g0025 a0003c0004t0046g0027	3	274	0.0110	703	c.126 others(722): Show c.1265+2238_1265+2239insTTTTTTTTTTTTTTTTTTTTTGTTTT GTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCA GGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTA ATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTC CCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCC ATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTT TGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTC ATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATA GTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTG TTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCA ATAAACATACGTGTGCATGTGTCTTTATAGCAGTATGATTTATACTCATT TGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTT CTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGT TTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCT CCAGCACCTGTTGTTTCCTGACTTTTT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	8/23			chr2	TogoVar
CCDC141_chr2_178824757_179055137	178903090	T T	TAAAAAGT others(696): Show TAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAA CACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAG TCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCC AGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCT ATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCA AAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAA AATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATG AGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTC AGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCAT AGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCA CACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGG GAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCA TGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCC TAAAACTTAGAGTATAATAAAAAAAAACAAAACAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03041.hp1 HG03710.hp2 others(1): Show HG00544.hp2 HG03041.hp1 HG03710.hp2 HG04184.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0090 a0003c0004t0004g0125 a0003c0004t0004g0200 others(1): Show a0003c0004t0004g0090 a0003c0004t0004g0125 a0003c0004t0004g0200 a0003c0004t0004g0201	4	274	0.0146	703	c.126 others(722): Show c.1265+2238_1265+2239insTTTTTTTTTTTTTTTTTTTTTGTTTT GTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCA GGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTA ATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTC CCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCC ATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTT TGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTC ATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATA GTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTG TTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCA ATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATT TGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTT CTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGT TTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCT CCAGCACCTGTTGTTTCCTGACTTTTT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	8/23			chr2	TogoVar
CCDC141_chr2_178824757_179055137	178903090	T T	TAAAAAGT others(696): Show TAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAA CACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAG TCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCC AGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCT ATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCA AAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAA AATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATG AGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTC AGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCAT AGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCA CACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGG GAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCA TGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCC TAAAACTTAGAGTATAATAAAAAAAAACAAAACAAAACAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19088.hp1 NA19088.hp2 NA18979.hp1 NA19088.hp1 NA19088.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0023 a0001c0001t0003 a0003c0004t0023	a0001c0001t0003g0024 a0003c0004t0023g0088 a0003c0004t0023g0145 a0001c0001t0003g0024 a0003c0004t0023g0088 a0003c0004t0023g0145	3	274	0.0110	703	c.126 others(722): Show c.1265+2238_1265+2239insTTTTTTTTTTTTTTTTGTTTTGTTTT GTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCA GGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTA ATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTC CCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCC ATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTT TGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTC ATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATA GTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTG TTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCA ATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATT TGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTT CTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGT TTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCT CCAGCACCTGTTGTTTCCTGACTTTTT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	8/23			chr2	TogoVar

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Search Results (Total: 8931 hits)