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
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(842): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAACATATATTATATAATATG TAATACACAACATATATTATATAATATGTAATACACAACATATATTATAT AATATGTAATACACAACATATATTATATAATATGTAATACACAACATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTATAC ATTATTATATAAGTATATGTAATACATTATACATTATTATATAAGTATAT GTAATATATATTATACATTATTATATAAGTATATGTAATATATAGTATAC ATTATTATATAAGCATATAATATATAATACATAATACATTATATATAAGC ATATAACAATACATAATACATTATATATAAGCATATAACAATACATAGTA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02896.hp2 HG01168.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0083 a0001c0001t0008 a0001c0001t0083	a0001c0001t0008g0123 a0001c0001t0083g0122 a0001c0001t0008g0123 a0001c0001t0083g0122	2	220	0.0091	849	c.24+ others(866): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAACATATATTATATAATATGTAATACACAACATATATTATATAATATGT AATACACAACATATATTATATAATATGTAATACACAACATATATTATATA ATATGTAATACACAACATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACATTATACATTATTATATA AGTATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTA TACATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAG TATATGTAATATATAGTATACATTATTATATAAGCATATAATATATAATA CATAATACATTATATATAAGCATATAACAATACATAATACATTATATATA AGCATATAACAATACATAGTA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RCBTB2_chr13_48483963_48538080	48527356	T T	TATATATA others(842): Show TATATATATGATATATATATATGATATATATATATGATATATATATATGA TATATATATATGATATATATATATGATATATATATATGATATATATATAT GATATATATATGATATATATATATGATATATATATATGATATATATATAT GATATATATATATGATATATATATATGATATATATATATGATATATATAT ATGATATATATATGATATATATATATGATATATATATATGATATATATAT ATGATATATATATATGATATATATATATGATATATATATATGATATATAT ATATGATATATATATATGATATATATATATGATATATATATATGATATAT ATATATGATATATATATGATATATATATGATATATATATGATATATATAT GATATATATATGATATATATATGATATATATATGATATATATATATGATA TATATATATGATATATATATATGATATATATATATGATATATATATATGA TATATATATATGATATATATATATGATATATATATGATATATATATGATA TATATATGATATATATATGATATATATATGATATATATATGATATATATA TGATATATATATATGATATATATATGATATATATATATGATATATATATA TGATATATATATATGATATATATATGATATATATATATGATATATATATA TGATATATATATATGATATATATATATGATATATATATATGATATATATA TATGATATATATATGATATATATATGATATATATATATGATATATATATA TGATATATATATATGATATATATATGATATATATATATGATATATATATG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0060 a0001c0005t0002g0060	1	320	0.0031	849	c.-21 others(868): Show c.-218-2600_-218-2599insCATATATATATCATATATATATATCA TATATATATCATATATATATATCATATATATATATCATATATATATATCA TATATATATCATATATATATCATATATATATATCATATATATATATCATA TATATATATCATATATATATATCATATATATATATCATATATATATATCA TATATATATCATATATATATATCATATATATATATCATATATATATATCA TATATATATCATATATATATATCATATATATATCATATATATATCATATA TATATCATATATATATCATATATATATCATATATATATCATATATATATC ATATATATATATCATATATATATATCATATATATATATCATATATATATA TCATATATATATATCATATATATATATCATATATATATATCATATATATA TCATATATATATCATATATATATCATATATATATCATATATATATCATAT ATATATCATATATATATCATATATATATATCATATATATATATCATATAT ATATATCATATATATATATCATATATATATATCATATATATATATCATAT ATATATATCATATATATATATCATATATATATATCATATATATATATCAT ATATATATATCATATATATATCATATATATATATCATATATATATATCAT ATATATATATCATATATATATATCATATATATATATCATATATATATATC ATATATATATATCATATATATATCATATATATATATCATATATATATATC ATATATATATATCATATATATATATCATATATATATATCATATATATATA TCATATATATATATCATATATAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RIN3_chr14_92508781_92693994	92547347	C C	CTTTATTT others(842): Show CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTT TATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATC TTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTA TCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAAT TATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAAT AAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAA ATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATA AAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTTTATTATTA TAAAATAAATTATCTTTTTATTATTATAAAATAAATTATCTTTATTTTAT TATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTT ATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATT TTATTATAAAATAAATTATCTTTATTATTATAAAATAAATTATCTTTATT ATTATAAAATAAATTATCTTTATTTTATTATTATAATAAATTATCTTTAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0157 a0004c0004t0002g0157	1	334	0.0030	849	c.45- others(864): Show c.45-8398_45-8397insTTATTATTATAAAATAAATTATCTTTATTT TATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAA AATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAT AAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATT ATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTT ATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCT TTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTAT CTTTTTATTATTATAAAATAAATTATCTTTTTATTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTATTATAAAATA AATTATCTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAT AAATTATCTTTATTTTATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(842): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATACATGT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	308	0.0033	849	c.-75 others(868): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAACATGTATCTATAAACTAAATATATA AATATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAA ACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATC TATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATA AATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATA TATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAA TATATAAATATGTATTTATAAACTAAATATATAAATATGTATTTATAAAC TAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTAT AAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTAT AAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTAT AAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(842): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATAT ATATTTATATATTTAGTTTATAGATACATGTTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	308	0.0033	849	c.-75 others(868): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAACATGTA TCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATA AATATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAA ACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATC TATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATAT TTATCTATAAACTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATA AATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATA TATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAA TATATAAATATGTATTTATAAACTAAATATATAAATATGTATTTATAAAC TAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTAT AAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTAT AAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTAT AAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(842): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAGTTTATAGATACATGTTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18959.hp2 NA18968.hp2 others(1): Show HG01168.hp2 NA18959.hp2 NA18968.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0128 a0001c0001t0001g0175 a0001c0001t0003g0072 others(1): Show a0001c0001t0001g0128 a0001c0001t0001g0175 a0001c0001t0003g0072 a0001c0001t0003g0073	4	308	0.0130	849	c.-75 others(868): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAACATGTATCTATAAACTAAATATATAAATATATATTTATCTATAA ACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATC TATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATAT TTATCTATAAACTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATA AATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATA TATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAA TATATAAATATGTATTTATAAACTAAATATATAAATATGTATTTATAAAC TAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTAT AAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTAT AAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTAT AAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SCNN1D_chr1_1275436_1297025	1289847	G G	GTCTCTGC others(842): Show GTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCATCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATCCC CCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCATCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCATGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0211 a0001c0009t0001g0211	1	290	0.0035	849	c.166 others(866): Show c.1663-422_1663-421insTCTGCTCCGTCCCCCGAGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATCCCCCGTGTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCATCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCATCCCCCGTGTCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCATGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACT others(842): Show CCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCC CCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCCCC CACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCCCCAC TCTCCTCATTCTACCCCCCACAAGCATCGCTCCAACCCTCCCCTACTCTC CTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCT CATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCAT TCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCT ATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACC CCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCC CCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCAC AAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAA GCATTGCTTCAACCCTCCCCCACGCTCCTCATTCTATCCCCCCACAAGCA TCGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCATCA CTCCAGCCCTCCCCTACTCTCCTCACTATCCCCCCACAAGCATCACTCCA ACCCTCCCCTACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCCAACCC TCCCCCAACTCTCCTCATTCTACCCCCCCCACAAGCATAGCTCCAACCCT CCCCCCACTCTCCTCATTCTACCCCCCCCCACAAGCACTGCTCCAACCCT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0011 a0011	a0011c0026 a0011c0026	a0011c0026t0046 a0011c0026t0052 a0011c0026t0046 a0011c0026t0052	a0011c0026t0046g0057 a0011c0026t0052g0074 a0011c0026t0046g0057 a0011c0026t0052g0074	2	280	0.0071	849	c.89- others(862): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGGTAG AATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGA ATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATG AGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAG AGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGT AGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGTGGG GGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGG AGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGG TTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTT GGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAG CAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCT ATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGC TTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTT GTGGGGGGATAGAATGAGGAGAGTAGGGGAGGGTTGGAGCGATGCTTGTG GGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCTATGCTTGTGGGGG GATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGA TAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATA GAATGAGGAGAGTGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
TJP3_chr19_3703384_3755813	3742670	T T	TGGTGGCT others(842): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTCGAGGGCGCCTG TGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGCGGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGG TGACAGAGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAAGAAATAC AAGGCCACAGCAGTTAATTTCTTTCTTTCTTTTTTTTTTTTTTTGAGACA GTGTCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCGGCTC ACTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCC CGAGTAGCTGGAATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGT ATTGTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTTGATC TCTTGACCTCGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGTGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCCCAGC CAGTGAAAACATAAAATACGGCCAGGAAGCCTGGAAGAAGGGGAGAAAAA GAGGCCGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGCT GAGGTGGGGAGGATGGCTTGAGCCCAGGAGTTTTGAGATCAGCCTGGGCA ACACAGCAAGACCTCGTCTCTATGAAAATAAAAAAAACTGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0383 a0001c0022t0001g0383	1	398	0.0025	849	c.184 others(868): Show c.1844-1227_1844-1226insCGGGCAGATCACGAGGTCAGGAGATC AAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAACACAA AAAATTAGCCGGGCGTGGTCGAGGGCGCCTGTGGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGCGGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAT CTCAAAAAACAAACAAAAAAAAAAGAAATACAAGGCCACAGCAGTTAATT TCTTTCTTTCTTTTTTTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTC AGGCTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCT GGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAG GCGCCTGCCACCACGCCTGGCTAATTTTTGTATTGTTAGTAGAGACGGGG TTTCACTATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGC CTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCC CGGCCCACAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAATAC GGCCAGGAAGCCTGGAAGAAGGGGAGAAAAAGAGGCCGGGTGTGATGGCT CATGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGGAGGATGGCTT GAGCCCAGGAGTTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCGTCT CTATGAAAATAAAAAAAACTGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGG	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TJP3_chr19_3703384_3755813	3742670	T T	TGGTGGCT others(842): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTCGAGGGCGCCTG TGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGG TGACAGAGTGAGACTCCATCTCAAAAAACAAACAAACAAAAAGAAATACA AGGCCACACAGTTAATTTCTTTCTTTCTTTCTTTCTTTTTTTTTGAGACA GTGTCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCGGCTC ACTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCC CGAGTAGCTGGAATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTGT ATTGTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTTGATC TCTTGACCTCGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGTGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCCCAGC CAGTGAAAACATAAAAATATGGCCAGGAAGCCTGGAAGAAGGGGAGAAAA AGAGGCCGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGC TGAGGTGGGAGGATGGCTTGAGCCCAGGAGTTTTGAGATCAGCCTGGGCA ACACAGCAAGACCTCGTCTCTATGAAAATAAAAAAAACTGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19080.hp1 HG02155.hp1 NA19080.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0128 a0006c0013t0001g0275 a0006c0013t0001g0128 a0006c0013t0001g0275	2	398	0.0050	849	c.184 others(868): Show c.1844-1227_1844-1226insCGGGCAGATCACGAGGTCAGGAGATC AAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAACACAA AAAATTAGCCGGGCGTGGTCGAGGGCGCCTGTGGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAT CTCAAAAAACAAACAAACAAAAAGAAATACAAGGCCACACAGTTAATTTC TTTCTTTCTTTCTTTCTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTC AGGCTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCT GGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAG GCGCCTGCCACCATGCCTGGCTAATTTTTGTATTGTTAGTAGAGACGGGG TTTCACTATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGC CTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCC CGGCCCACAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAAATA TGGCCAGGAAGCCTGGAAGAAGGGGAGAAAAAGAGGCCGGGTGTGATGGC TCATGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGAGGATGGCTT GAGCCCAGGAGTTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCGTCT CTATGAAAATAAAAAAAACTGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGG	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TJP3_chr19_3703384_3755813	3742670	T T	TGGTGGCT others(842): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTCGAGGGCGCCTG TGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGG TGACAGAGTGAGACTCCATCTCAAAAAACAAACAAACAAAAAGAAATACA AGGCCACACAGTTAATTTCTTTCTTTCTTTCTTTTTTTTTTTTTGAGACA GTGTCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCGGCTC ACTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCC CGAGTAGCTGGAATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTGT ATCGTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTTGATC TCTTGACCTCGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGTGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCCCAGC CAGTGAAAACATAAAAATATGGCCAGGAAGCCTGGAAGAAGGGGAGAAAA AGAGGCCGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGC TGAGGTGGGAGGATGGCTTGAGCCCAGGAGTTTTGAGATCAGCCTGGGCA ACACAGCAAGACCTCGTCTCTATGAAAATAAAAAAAACTGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0304 a0003c0004t0001g0304	1	398	0.0025	849	c.184 others(868): Show c.1844-1227_1844-1226insCGGGCAGATCACGAGGTCAGGAGATC AAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAACACAA AAAATTAGCCGGGCGTGGTCGAGGGCGCCTGTGGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAT CTCAAAAAACAAACAAACAAAAAGAAATACAAGGCCACACAGTTAATTTC TTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTC AGGCTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCT GGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAG GCGCCTGCCACCATGCCTGGCTAATTTTTGTATCGTTAGTAGAGACGGGG TTTCACTATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGC CTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCC CGGCCCACAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAAATA TGGCCAGGAAGCCTGGAAGAAGGGGAGAAAAAGAGGCCGGGTGTGATGGC TCATGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGAGGATGGCTT GAGCCCAGGAGTTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCGTCT CTATGAAAATAAAAAAAACTGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGG	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TJP3_chr19_3703384_3755813	3742670	T T	TGGTGGCT others(842): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTCGAGGGCGCCTG TGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGG TGACAGAGTGAGACTCCATCTCAAAAAACAAACAAACAAAAAGAAATACA AGGCCACACAGTTAATTTCTTTCTTTCTTTCTTTTTTTTTTTTTGAGACA GTGTCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCGGCTC ACTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCC CGAGTAGCTGGAATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTGT ATTGTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTTGATC TCTTGACCTCGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGTGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCCCAGC CAGTGAAAACATAAAAATATGGCCAGGAAGCCTGGAAGAAGGGGAGAAAA AGAGGCCGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGC TGAGGTGGGAGGATGGCTTGAGCCCAGGAGTTTTGAGATCAGCCTGGGCA ACACAGCAAGACCTCGTCTCTATGAAAATAAAAAAAACTGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG00738.hp1 others(53): Show HG00280.hp2 HG00642.hp1 HG00738.hp1 HG01070.hp1 HG01081.hp1 HG01099.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02056.hp2 HG02165.hp2 HG02602.hp1 HG02602.hp2 HG03239.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18948.hp1 NA18964.hp1 NA18969.hp1 NA18973.hp2 NA18983.hp2 NA18997.hp2 NA18998.hp1 NA19011.hp2 NA19070.hp2 NA19074.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0006 a0009 a0011	a0001c0011 a0003c0003 a0003c0004 others(7): Show a0001c0011 a0003c0003 a0003c0004 a0003c0026 a0003c0034 a0003c0035 a0004c0023 a0006c0013 a0009c0025 a0011c0033	a0001c0011t0001 a0001c0011t0004 a0003c0003t0001 others(9): Show a0001c0011t0001 a0001c0011t0004 a0003c0003t0001 a0003c0004t0001 a0003c0004t0004 a0003c0026t0001 a0003c0034t0001 a0003c0035t0001 a0004c0023t0002 a0006c0013t0001 a0009c0025t0001 a0011c0033t0001	a0001c0011t0001g0190 a0001c0011t0001g0234 a0001c0011t0001g0303 others(53): Show a0001c0011t0001g0190 a0001c0011t0001g0234 a0001c0011t0001g0303 a0001c0011t0001g0373 a0001c0011t0001g0396 a0001c0011t0004g0049 a0001c0011t0004g0052 a0003c0003t0001g0220 a0003c0004t0001g0086 a0003c0004t0001g0142 a0003c0004t0001g0144 a0003c0004t0001g0161 a0003c0004t0001g0169 a0003c0004t0001g0200 a0003c0004t0001g0211 a0003c0004t0001g0212 a0003c0004t0001g0225 a0003c0004t0001g0227 a0003c0004t0001g0240 a0003c0004t0001g0277 a0003c0004t0001g0282 a0003c0004t0001g0295 a0003c0004t0001g0311 a0003c0004t0001g0312 a0003c0004t0001g0318 a0003c0004t0001g0324 a0003c0004t0001g0332 a0003c0004t0001g0363 a0003c0004t0001g0369 a0003c0004t0001g0370 a0003c0004t0001g0386 a0003c0004t0001g0392 a0003c0004t0001g0393 a0003c0004t0001g0394 a0003c0004t0001g0395 a0003c0004t0004g0012 a0003c0004t0004g0015 a0003c0004t0004g0020 a0003c0004t0004g0024 a0003c0004t0004g0039 a0003c0004t0004g0043 a0003c0004t0004g0047 a0003c0004t0004g0059 a0003c0026t0001g0218 a0003c0026t0001g0307 a0003c0034t0001g0294 a0003c0035t0001g0340 a0004c0023t0002g0314 a0004c0023t0002g0320 a0006c0013t0001g0216 a0006c0013t0001g0219 a0006c0013t0001g0243 a0006c0013t0001g0339 a0009c0025t0001g0196 a0009c0025t0001g0305 a0011c0033t0001g0306	56	398	0.1407	849	c.184 others(868): Show c.1844-1227_1844-1226insCGGGCAGATCACGAGGTCAGGAGATC AAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAACACAA AAAATTAGCCGGGCGTGGTCGAGGGCGCCTGTGGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAT CTCAAAAAACAAACAAACAAAAAGAAATACAAGGCCACACAGTTAATTTC TTTCTTTCTTTCTTTTTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTC AGGCTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCT GGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAG GCGCCTGCCACCATGCCTGGCTAATTTTTGTATTGTTAGTAGAGACGGGG TTTCACTATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGC CTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCC CGGCCCACAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAAATA TGGCCAGGAAGCCTGGAAGAAGGGGAGAAAAAGAGGCCGGGTGTGATGGC TCATGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGAGGATGGCTT GAGCCCAGGAGTTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCGTCT CTATGAAAATAAAAAAAACTGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGG	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TOLLIP_chr11_1269371_1314632	1287808	C C	CGCCGCAC others(842): Show CGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAG CCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCG CCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCACCGCCGCACCC TCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCACCGCC GCACCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAGCCTC ACCGCCGCACCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGC ACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCC CGCCGCAGCCTCCCCGCCGCACCCGCCGCAGCCTCCCCGCCGCACCCTCC CCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCACCGCCGCA CCCTCCCCGCCGCAGCCTCCCTGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCTCTGCTGCAGCCTCCCTGCCGCACCCTCTCTGCCGCAGC CTCCCCGCCGCACCCTCTCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCT CTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCG CACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCC CCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCA GCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0308 a0001c0001t0029g0308	1	348	0.0029	849	c.519 others(864): Show c.519+815_519+816insAGAGAGGGTGCGGCGGGGAGGCTGCGGCAG AGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTG CGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGG AGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCG GCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAG GGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGC GGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCAGGGAGGC TGCAGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCAG GGAGGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTG CGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGG GAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGC GGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGTGA GGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287808	C C	CGCCGCAC others(842): Show CGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAG CCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCG CCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCC TCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCACCGCC GCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTC ACCGCCGCACCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGC AGCCTCACCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCC CGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAC CCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCA CCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAGCCTCCCT GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCTCTGCTGCAGC CTCCCCGCCGCACCCTCTCCGCCGCAGCCTCCCCGCCGCACCCTCTCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCG CACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCC CCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCA GCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0258 a0001c0001t0004g0258	1	348	0.0029	849	c.519 others(864): Show c.519+815_519+816insAGAGAGGGTGCGGCGGGGAGGCTGCGGCAG AGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTG CGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGG AGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCG GCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAG GGTGCGGCGGGGAGGCTGCGGCGGAGAGGGTGCGGCGGGGAGGCTGCGGC GGAGAGGGTGCGGCGGGGAGGCTGCAGCAGAGAGGGTGCGGCGGGGAGGC TGCGGCGGGGAGGGTGCGGCAGGGAGGCTGCGGCGGGGAGGGTGCGGCGG TGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTG CGGCGGGGAGGCTGCGGCGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGG GAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGC GGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGGGA GGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCAGAGAGGGTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(842): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0084 a0001c0002t0003g0084	1	174	0.0058	849	c.41- others(866): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TUBGCP5_chr15_22994177_23044569	23040688	T T	TGGGGCCA others(842): Show TGGGGCCATCATAACCCAACCTGGCCAGAGGTGCTGGGGGGACATCTTAA CCTCACCTGGCCAGAGGTGCTAGGGGGATATCATAATCCCACCTGGCCAG AGATTCTGGGGGGACATCATAACCCCAGCTGGCCGGAGGTGCCGGGGGGC GGGGGGAACTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGGACATCAT AACCTCACCTGGCCAGAGGTGCTAGGGGGTATCATAATCCCACCTGGCCA GAGATGCTGGGGGGCCATCATAACCCCACCTGGCCAGAGGTGCTGTGGGG CCATCATAACCCAACCTGGCCAGAGGTGCTGGGGGGACATCTTAACCTCA CCTGGCCAGAGGTGCTAGGGGGATATCATAATCCCACCTGGCCAGAGATT CTGGGGGGACATCATAACCCCAGCTGGCCGGAGGTGCCGGGGGGCGGGGG GAACTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGGACATCATAACCT CACCTGGCCAGAGGTGCTAGGGGGTATCATAATCCCACCTGGCCAGAGAT GCTGGGGGGCCATCATAACCCCACCTGGCCAGAGGTGCTGTGGGGCCATC ATAACCCAACCTGGCCAGAGGTGCTGGGGGGACATCTTAACCTCACCTGG CCAGAGGTGCTAGGGGGATATCATAATCCCACCTGGCCAGAGATTCTGGG GGGACATCATAACCCCAGCTGGCCGGAGGTGCCGGGGGGCGGGGGGAACT TCATAACCCCACCTGGCCAGAGGTGCTGGGGGGACATCATAACCTCACCT GGCCAGAGGTGCTAGGGGGTATCATAATCCCACCTGGCCAGAGATTCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03453.hp2 HG03098.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0193 a0001c0001t0001g0144 a0001c0001t0001g0193	2	351	0.0057	849	c.-11 others(860): Show c.-1146_-1145insCCAGAATCTCTGGCCAGGTGGGATTATGATACCC CCTAGCACCTCTGGCCAGGTGAGGTTATGATGTCCCCCCAGCACCTCTGG CCAGGTGGGGTTATGAAGTTCCCCCCGCCCCCCGGCACCTCCGGCCAGCT GGGGTTATGATGTCCCCCCAGAATCTCTGGCCAGGTGGGATTATGATATC CCCCTAGCACCTCTGGCCAGGTGAGGTTAAGATGTCCCCCCAGCACCTCT GGCCAGGTTGGGTTATGATGGCCCCACAGCACCTCTGGCCAGGTGGGGTT ATGATGGCCCCCCAGCATCTCTGGCCAGGTGGGATTATGATACCCCCTAG CACCTCTGGCCAGGTGAGGTTATGATGTCCCCCCAGCACCTCTGGCCAGG TGGGGTTATGAAGTTCCCCCCGCCCCCCGGCACCTCCGGCCAGCTGGGGT TATGATGTCCCCCCAGAATCTCTGGCCAGGTGGGATTATGATATCCCCCT AGCACCTCTGGCCAGGTGAGGTTAAGATGTCCCCCCAGCACCTCTGGCCA GGTTGGGTTATGATGGCCCCACAGCACCTCTGGCCAGGTGGGGTTATGAT GGCCCCCCAGCATCTCTGGCCAGGTGGGATTATGATACCCCCTAGCACCT CTGGCCAGGTGAGGTTATGATGTCCCCCCAGCACCTCTGGCCAGGTGGGG TTATGAAGTTCCCCCCGCCCCCCGGCACCTCCGGCCAGCTGGGGTTATGA TGTCCCCCCAGAATCTCTGGCCAGGTGGGATTATGATATCCCCCTAGCAC CTCTGGCCAGGTGAGGTTAAGATGTCCCCCCAGCACCTCTGGCCAGGTTG GGTTATGATGGCCCC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		1120		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23043023	A A	AGGTGCCA others(842): Show AGGTGCCAGGAGGACTTCATAACCACACCTGGCCAGAGGTGCTGGGGGGA CATCATAACCTCACCTGGCCAGAGGTGCTGTGGGGGGGTATTATAACCCC ACCTGGCCAGAGGTGCTGGGGGGGTCATAATCCCACTTGGCCAGAGGTGC TGTGGGGCCATCATAACCCCAGCTGGCCGGAGGTGCCGGGGGGCGGGGGG AACTTCATAACCCCACCTGGCCAGAGTTGCTGGGGGTGACTTCATAAATG TCACCTGGCCAGAGGTGCTGCGGGGGATTTCATAACCCCACCTGGCCAGA GGTGCTGGGGGGACATCATAACCTCACCTGGCCAGAGGTGCTAGGGGATA TCATAATCCCACCTGGCCAGAGATGCTGGGGGGCCATCATAACCCCACCT GGCCAGAGGTGCTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGC TGGGGGGGATTTCATAACCCCACCTGGCCAGGGGTGCTGGGGGGACATCA TAACCTCACCTGGCCAGAGGTGCTGGGGGGTATCATAATCTGACCTGGTC AGAGATGCTGGGGGGACATCATAACCCCACCTGGCCAGAGGTGCTGTGGG GCCATCATAACCCCAGCTAGCCGGAAGTGCTGGGGGCTGGGGGAACTTCT TAACCCCACCTGGCTAGAGGTGCTAGGGGATATCATAATCCCACCTGGCC AGAGATGCTGGGGGGCCATCATAACCCCACCTGGCCAGCGGTGCTGTGGG GCCATCATAACCCCACCTGGCCAGAGGTGCTGGGGGTGACTTCATAAATG TCACCTGGCCAGAGGTGCTGGGGGGGATTTCATAACCCCACCTGGCCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	351	0.0029	849	c.-34 others(860): Show c.-3481_-3480insCCTGGCCAGGTGGGGTTATGAAATCCCCCCCAGC ACCTCTGGCCAGGTGACATTTATGAAGTCACCCCCAGCACCTCTGGCCAG GTGGGGTTATGATGGCCCCACAGCACCGCTGGCCAGGTGGGGTTATGATG GCCCCCCAGCATCTCTGGCCAGGTGGGATTATGATATCCCCTAGCACCTC TAGCCAGGTGGGGTTAAGAAGTTCCCCCAGCCCCCAGCACTTCCGGCTAG CTGGGGTTATGATGGCCCCACAGCACCTCTGGCCAGGTGGGGTTATGATG TCCCCCCAGCATCTCTGACCAGGTCAGATTATGATACCCCCCAGCACCTC TGGCCAGGTGAGGTTATGATGTCCCCCCAGCACCCCTGGCCAGGTGGGGT TATGAAATCCCCCCCAGCACCTCTGGCCAGGTGACATTTATGAAGTCACC CCCAGCACCTCTGGCCAGGTGGGGTTATGATGGCCCCCCAGCATCTCTGG CCAGGTGGGATTATGATATCCCCTAGCACCTCTGGCCAGGTGAGGTTATG ATGTCCCCCCAGCACCTCTGGCCAGGTGGGGTTATGAAATCCCCCGCAGC ACCTCTGGCCAGGTGACATTTATGAAGTCACCCCCAGCAACTCTGGCCAG GTGGGGTTATGAAGTTCCCCCCGCCCCCCGGCACCTCCGGCCAGCTGGGG TTATGATGGCCCCACAGCACCTCTGGCCAAGTGGGATTATGACCCCCCCA GCACCTCTGGCCAGGTGGGGTTATAATACCCCCCCACAGCACCTCTGGCC AGGTGAGGTTATGATGTCCCCCCAGCACCTCTGGCCAGGTGTGGTTATGA AGTCCTCCTGGCACC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3455		chr15	TogoVar
TWIST2_chr2_238843085_238915534	238870487	C C	CACACCAC others(842): Show CACACCACACCCCACACACACCACACCCCACACACACACCACACACCCCA CACACACCACACACACCACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACACACCACACCCCACACACACCACACCCCA CACACACCACACACCCCACACACACCACACACACCACACCCCACACACAC CACACCCCACACACCCCACACACACCACACACCCCACACACACCACACAC ACCACACACCCACACACACCACACACACCACACACACCACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACACACCACACC CCACACACACCACACACACCACAGCCCACACACACCACACACACCACACC CCACACACACCACACACACCACACCCCACACACACCACACCCCACACACC CCACACACACCACACACCCCACACACACCACACACACCACACACCCCACA CACACCACACACCCCACACACACCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACACACCACACCCCA CACACACCACACCCCACACACACCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACACACCGCACCCCA CACACACCACACCCCACACACCCCACACACACCACACACCCCACACACCC CCCACACACCACACCCCACACACACCACACCCCACACACACCACACCCCA CACACACCACACACCCCACACACACCACACCCCACACACACCACACACCA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	338	0.0030	849	c.35 others(868): Show c.35+21754_*35+21755insACACCACACCCCACACACACCACACC CCACACACACACCACACACCCCACACACACCACACACACCACACCCCACA CACACCACACCCCACACACACCACACACCCCACACACACCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACACACCACACCCCACACACACCACACCCCACACACCCCACACACACCA CACACCCCACACACACCACACACACCACACACCCACACACACCACACACA CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACACACCACACCCCACACACACCACACACACCACAGCCC ACACACACCACACACACCACACCCCACACACACCACACACACCACACCCC ACACACACCACACCCCACACACCCCACACACACCACACACCCCACACACA CCACACACACCACACACCCCACACACACCACACACCCCACACACACCACA CACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACA CACACCACACACACCACACCCCACACACACCACACCCCACACACACCACA CACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACA CACACCACACACACCGCACCCCACACACACCACACCCCACACACCCCACA CACACCACACACCCCACACACCCCCCACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACACCA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679092	T T	TATAAATA others(842): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATAT ATATTTATATATTTAGTTTATAGATACATGTTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0189 a0001c0001t0011g0189	1	250	0.0040	849	c.82+ others(864): Show c.82+5644_82+5645insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATACATGTTTATA TATTTAGTTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679092	T T	TATAAATA others(842): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAGTTTATAGATACATGTTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18959.hp1 NA18968.hp2 HG01168.hp2 NA18959.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001	a0001c0001t0005g0022 a0001c0001t0007g0105 a0001c0002t0001g0196 a0001c0001t0005g0022 a0001c0001t0007g0105 a0001c0002t0001g0196	3	250	0.0120	849	c.82+ others(864): Show c.82+5644_82+5645insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATACATGTTTATATATTTAGTTTAT AGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATA TATTTAGTTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTATA others(843): Show GTACTATATATATTTTATATATAGTATGTACTATATATATTTTATATATA GTATGTACTATATATATTTTATATATAGTATGTACTATATATATTTTATA TATAGTATGTACTATATATATTTTATATATAGTATGTACTATATATATTT TATATATAGTATATACATTGTATATACTATATATATATTTTATGTATAGT ATGTACATTGTATATACTATATATATATTTTATGTATATTATGTACTATA TATATTTTATACATAGTATATACACTGTATATACTATATATATTTTATAC ATAGTATATACACTGTATATACTATATATATTTTATACATAGTATATACA CTGTATATACTATATATATTTTATACATAGTATATACACTGTATATACTA TATATATTTTATACATAGTATATACACTGTATATACTATATATATTTTAT ACATAGTATATACACTGTATATACTATATATATTTTATACATAGTATATA CACTGTATATACTATATATATTTTATACATAGTATATACACTGTATATAC TATATATATTTTATACATAGTATATACAGTGTATATACTATATATATTTT ATACATAGTATATACACTGTATATACTATATATATTTTATACATAGTATA TACACTGTATATACTATATATATTTTATACATAGTATATACACTGTATAT ACTATATATATTTTATACATAGTATATACACTGTATATACTATATATATT TTATACATAGTATATATACTGTATATACTATATATATTTTATATATAGTA TATATACTGTATATACTATATATATTTTATATATAGTATATATACTGTAT A	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0013 a0001c0001t0016g0013	1	182	0.0055	850	c.505 others(869): Show c.505-41258_505-41257insTATACAGTATATATACTATATATAAA ATATATATAGTATATACAGTATATATACTATATATAAAATATATATAGTA TATACAGTATATATACTATGTATAAAATATATATAGTATATACAGTGTAT ATACTATGTATAAAATATATATAGTATATACAGTGTATATACTATGTATA AAATATATATAGTATATACAGTGTATATACTATGTATAAAATATATATAG TATATACAGTGTATATACTATGTATAAAATATATATAGTATATACACTGT ATATACTATGTATAAAATATATATAGTATATACAGTGTATATACTATGTA TAAAATATATATAGTATATACAGTGTATATACTATGTATAAAATATATAT AGTATATACAGTGTATATACTATGTATAAAATATATATAGTATATACAGT GTATATACTATGTATAAAATATATATAGTATATACAGTGTATATACTATG TATAAAATATATATAGTATATACAGTGTATATACTATGTATAAAATATAT ATAGTATATACAGTGTATATACTATGTATAAAATATATATAGTATATACA GTGTATATACTATGTATAAAATATATATAGTACATAATATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATATAGT ATATACAATGTATATACTATATATAAAATATATATAGTACATACTATATA TAAAATATATATAGTACATACTATATATAAAATATATATAGTACATACTA TATATAAAATATATATAGTACATACTATATATAAAATATATATAGTACAT ACTATATATAAAATATATATAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
AHRR_chr5_316714_443285	415440	C C	CTGCTGGG others(843): Show CTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAG GGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTG GTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCT AGGGGCCGAATCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCC TGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGC CTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTC CCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAG GCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATC TGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGG AGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAG TCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCG GGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCG AGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGG TGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGC CGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCG GGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGG GCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGT G	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0078 a0001c0001t0041g0078	1	268	0.0037	850	c.441 others(867): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGCTGGGA GGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGT CTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGG GAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGA GTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGT GGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCC GAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGG GCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGG CCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTC GGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGG GGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGG TCGGGTGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCTA GGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCT GGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCC TAGGGGCCGAATCTGCCTGGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10			chr5	TogoVar
AHRR_chr5_316714_443285	415440	C C	CTGCTGGG others(843): Show CTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAG GGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTG GTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCT AGGGGCCGAATCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCC TGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGC CTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTC CCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAG GCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATC TGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGG AGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAA TCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCG GGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCG AGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGG TGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGC CGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCG GGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGG GCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGT G	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0084 a0001c0010t0005g0084	1	268	0.0037	850	c.441 others(867): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGCTGGGA GGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGT CTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGG GAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGA GTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGT GGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCC GAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGG GTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGG CCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTC GGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGG GGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGG TCGGGTGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCTA GGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCT GGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCC TAGGGGCCGAATCTGCCTGGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10			chr5	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(843): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGCAAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA GCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACA GCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGG CACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGA CATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAG TGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCA GGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAG G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0246 a0001c0002t0023g0246	1	246	0.0041	850	c.298 others(867): Show c.2981-321_2981-320insCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCT GCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCT GCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTG TGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC GCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCAC CTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCC ACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACC CCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTA GCCCACTCCCCACCTGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049950	T T	TGGGGGGC others(843): Show TGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGGGGGCA GAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAA CACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAATACATGGAG GGCAGAGGAGAACACATGGGGGGCAGAGGGGAATACATGGGGGGCAGAGG AGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATG GGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAG AGGGGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACAC ATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGG CAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGA ATACATGGGGGGCAGAGGAGAACACATGGAGGGCAGAGGAGAACACATGG GGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAG GGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACA TGGGGGGCAGAGGAGAACACATGGAGGGCAGAGGAGAACACATGGGGGGC AGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAA TACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGG GGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGG AGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACAT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0099	1	308	0.0033	850	c.47 others(861): Show c.4780_*4781insCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCT CTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCC ATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCT CCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCC CCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCTCCATGTG TTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCT GCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCCAT GTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCTCCATGTGTTCTC CTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCC CCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGT TCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTG CCCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATG TATTCCCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCCT CTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCC ATGTGTTCTCCTCTGCCCTCCATGTATTCTCCTCTGCCCCCCATGTGTTC TCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCC CCCCATGTATTCCCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCATGTG TTCCCCTCTGCCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2153		chr8	TogoVar
ASAP2_chr2_9201812_9410678	9400249	T T	TTCCCCTC others(843): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCC CTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGC CCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCT CCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTG CCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCC CCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTC CTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCC CCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCC CTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTCC TGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGCCCTCCTGC CCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCC CTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCT CCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCC TCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCC C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01261.hp1 HG01070.hp2 HG01071.hp2 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058	3	210	0.0143	850	c.273 others(867): Show c.2734+190_2734+191insCCTTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCC CTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCT CCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCC CCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCC CTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTC CCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCC CTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTC CTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTG CCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCC TCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCACC TTCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGC CCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACC CCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCC TGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCC TCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTC CTGCCCCCCTCCCCTCCTGCCC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(843): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCTGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAAA AAAAAAAATACATATATATATATATATATATATATTTAAAATTCCTTGTA AAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGGGA GGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGC C	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18969.hp1 NA18980.hp2 HG06807.hp2 NA18969.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007	a0001c0001t0003g0250 a0001c0001t0005g0224 a0001c0001t0007g0225 a0001c0001t0003g0250 a0001c0001t0005g0224 a0001c0001t0007g0225	3	336	0.0089	850	c.94+ others(865): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATGTATTTTTTTTTTTTTTTTAATATATATTCTTTTTTTTTA AACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTTGG CTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAGGG AGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTTTT TTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGG CTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCCCA AAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATATAT TTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGTTG ACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTTCC ACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTTTC TTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCTCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGTAG AGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(843): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAAA AAAAAAAATACATATATATATATATATATATATATTTAAAATTCCTTGTA AAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGGGA GGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGC C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0231 a0001c0001t0007g0231	1	336	0.0030	850	c.94+ others(865): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATGTATTTTTTTTTTTTTTTTAATATATATTCTTTTTTTTTA AACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTCGG CTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAGGG AGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTTTT TTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGG CTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCCCA AAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATATAT TTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGTTG ACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTTCC ACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTTTC TTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCTCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGTAG AGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(843): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGC CCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	850	c.36 others(861): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCT CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCT CCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(843): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCTGGCAGAGCCAGC CCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0001 a0004c0011t0001g0001	1	391	0.0026	850	c.36 others(861): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCT CCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(843): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGG CAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	850	c.36 others(861): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(843): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	850	c.36 others(861): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCC TCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(843): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGCAAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA GCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACA GCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGG CACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGA CATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAG TGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCA GGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAG G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	398	0.0025	850	c.-22 others(861): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATG TCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTG CCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTGTGCCCT TCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCC CTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTG CTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGC TGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCT GCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCAC TCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
CALN1_chr7_71774491_72417338	72209170	T T	TTCCTTCC others(843): Show TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTT CCGTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCC TTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTT CCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCT CCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCC TTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTT CCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCC CTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTT CCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCC TTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCT CTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCC TTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTT CCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCC TTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTT CCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCC C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0015 a0001c0001t0006g0015	1	142	0.0070	850	c.244 others(869): Show c.244+69515_244+69516insGGGAAGGAAGGAGGGAAGGAGGGAAG GAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAG GAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGG GAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGA AGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAA GAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGA AGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAG GAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGG GAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGACGGAAGGA AGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAG GAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGA GGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGG GAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGA AAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAAGGGAAGGAGGGA AGGAAAGAGGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCCTC others(843): Show CCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCTCCCCTCCCCTCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCCCCTCCCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCCCTCCCCTCCCCT CCCCCCCCTCCCCCTCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCT CCCCCCCCTCCCCCCCCCTCCCCCCCCCCTCCCCCTCCCCTCCCCCCCCT CCCCCCTCCCCCCCCCCCTCCCCTCCCCCCTCCCTCCCCCCCTCCCCCCC CTCCCCCCCCCTCCCCCTCCCCCTCCCCCCCCCCCTCCCCTCCCCCTCCC CCCCCCTCCCCCCCCTCCCCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCCCCTCCCCTCCCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCC CCCTCCCCTCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCC T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0015 a0001c0001t0023g0015	1	256	0.0039	850	c.-45 others(871): Show c.-455+14579_-455+14580insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCC TCCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCTCCC CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCC CCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCC CCTCCCCTCCCCCCTCCCCCTCCCCCCCCTCCCCCCCCCTCCCCCCCCCC TCCCCCTCCCCTCCCCCCCCTCCCCCCTCCCCCCCCCCCTCCCCTCCCCC CTCCCTCCCCCCCTCCCCCCCCTCCCCCCCCCTCCCCCTCCCCCTCCCCC CCCCCCTCCCCTCCCCCTCCCCCCCCCTCCCCCCCCTCCCCCCCCCTCCC CCCCTCCCCTCCCCCCTCCCCCCCCCTCCCCTCCCCCCTCCCCCCCCTCC CCTCCCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCTTCCCCTCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP61_chr20_20047532_20365698	20337583	T T	TAGATGGA others(843): Show TAGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATAGATGGGTGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTG GATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGA TAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATG GATGGATGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGA TAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATG G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0175 a0001c0003t0003g0175	1	236	0.0042	850	c.342 others(869): Show c.3423-4248_3423-4247insAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGT GGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGG ATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATAGAT GGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGGT GGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAG ATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGT GGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAG ATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGATAGATGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20337583	T T	TGGATAGA others(843): Show TGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATAGATGGGTGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATA GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATG GATGGATGGATGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATG G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	236	0.0042	850	c.342 others(869): Show c.3423-4247_3423-4246insGATAGATGGATAGATGGGTGGGTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGATG GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGG TGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATG GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGG TGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATA GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGATAGATGGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(843): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACC TCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCT CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCT CCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCT TTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTC C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0214 a0001c0002t0006g0214	1	270	0.0037	850	c.162 others(871): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTC CACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCT CCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCC CTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCC TCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTC CCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTT CCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL18A1_chr21_45400165_45518720	45500731	G G	GGTGTGTG others(843): Show GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGG GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTCGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATTGGTG TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTTTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG04228.hp1 NA18964.hp2 others(7): Show HG00544.hp1 HG04228.hp1 NA18964.hp2 NA18969.hp1 NA18975.hp1 NA18983.hp1 NA18999.hp1 NA19007.hp2 NA19088.hp2 NA20905.hp2	a0003 a0003	a0003c0009 a0003c0010 a0003c0015 others(2): Show a0003c0009 a0003c0010 a0003c0015 a0003c0045 a0003c0047	a0003c0009t0001 a0003c0010t0002 a0003c0015t0001 others(2): Show a0003c0009t0001 a0003c0010t0002 a0003c0015t0001 a0003c0045t0006 a0003c0047t0001	a0003c0009t0001g0054 a0003c0009t0001g0167 a0003c0009t0001g0171 others(7): Show a0003c0009t0001g0054 a0003c0009t0001g0167 a0003c0009t0001g0171 a0003c0009t0001g0247 a0003c0010t0002g0172 a0003c0015t0001g0168 a0003c0015t0001g0189 a0003c0015t0001g0202 a0003c0045t0006g0242 a0003c0047t0001g0069	10	292	0.0343	850	c.268 others(869): Show c.2683+3076_2683+3077insGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG TGTGTTGGGTGTGTAGTGTGGGGGTGTCGTTTGGTGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTTGGGGGTGTGGTTTGGTGTGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTAT GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGATTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTTT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTGTGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAGGCAGG others(843): Show CAGGCAGGAAGGGAAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCA GGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGG AGGGGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGAGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGG AGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGG AAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAG GGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAA GAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGG AAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGG A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	344	0.0029	850	c.85- others(867): Show c.85-12935_85-12934insTCCCCCTCCCTTCCTGCCTTTCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT TCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTT CCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCT GCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCT TCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCC TGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGC CTGCCCCCTTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CTDP1_chr18_79674803_79759503	79691731	G G	GGGGGAGG others(843): Show GGGGGAGGAGTGGACAGCTCCCTGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGG GTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTG GACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGG GTGGACTCGGGGTGGGAGAAGAGTGGACGGCTCCCAGGGTGGACTCGGGG T	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0144 a0001c0001t0004g0144	1	378	0.0027	850	c.315 others(867): Show c.315-3480_315-3479insAGCTCCCTGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGG GAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGG ACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGG AGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGC TCCCAGGGTGGACTCGGGGTGGGAGAAGAGTGGACGGCTCCCAGGGTGGA CTCGGGGTGGGGAGGAGTGGAC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(843): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCAGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGT TTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGAT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02809.hp2 others(3): Show HG02622.hp2 HG02630.hp2 HG02809.hp2 HG03130.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0047 a0001c0001t0018 a0001c0001t0047	a0001c0001t0018g0006 a0001c0001t0018g0057 a0001c0001t0047g0006 a0001c0001t0018g0006 a0001c0001t0018g0057 a0001c0001t0047g0006	6	419	0.0143	850	c.-51 others(861): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CAGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAG TGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCAC GCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTT CTTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCG TGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATC ATGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(843): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGAGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAA ACAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAA CAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTA ATTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAAT ATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGT TTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGAT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00639.hp2 HG02015.hp2 others(4): Show HG00558.hp1 HG00639.hp2 HG02015.hp2 HG02145.hp1 NA18988.hp2 NA18993.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0033 a0001c0001t0064	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0016 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0006g0185 a0001c0001t0007g0002 a0001c0001t0033g0002 a0001c0001t0064g0042	7	419	0.0167	850	c.-51 others(861): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGAGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAAGAAAATAATAATAATAAT AATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAA ACTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCA CTACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAAT CTCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAG TGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCAC GCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTT CTTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCG TGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATC ATGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(843): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGAGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGT TTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGAT T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18961.hp2 NA18939.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0110 a0001c0001t0010g0129 a0001c0001t0007g0110 a0001c0001t0010g0129	2	419	0.0048	850	c.-51 others(861): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGAGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAG TGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCAC GCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTT CTTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCG TGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATC ATGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(843): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGT TTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGAT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG01255.hp2 others(18): Show HG00323.hp2 HG00733.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01884.hp2 HG01978.hp2 HG01981.hp2 HG02257.hp1 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG02886.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp2 HG03486.hp1 HG03579.hp1 NA18964.hp2 NA19043.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0012 a0008c0009 a0001c0001 a0001c0012 a0008c0009	a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 others(9): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0046 a0001c0001t0083 a0001c0012t0006 a0008c0009t0020	a0001c0001t0004g0003 a0001c0001t0006g0017 a0001c0001t0006g0039 others(14): Show a0001c0001t0004g0003 a0001c0001t0006g0017 a0001c0001t0006g0039 a0001c0001t0006g0142 a0001c0001t0015g0166 a0001c0001t0020g0019 a0001c0001t0021g0007 a0001c0001t0027g0006 a0001c0001t0027g0058 a0001c0001t0027g0186 a0001c0001t0031g0006 a0001c0001t0032g0057 a0001c0001t0032g0058 a0001c0001t0046g0006 a0001c0001t0083g0006 a0001c0012t0006g0094 a0008c0009t0020g0019	21	419	0.0501	850	c.-51 others(861): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAG TGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCAC GCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTT CTTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCG TGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATC ATGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075574	G G	GGTGAAAC others(843): Show GGTGAAACCCTGTCTCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTG GTGGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGC ATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGACTGTGCCATTGCAC TCCAGCCTGGGCGACAGAACGAGACTCTGTCTCAAAAAAAAAAAAAGAAA ATAATAATAATAATAATATTAAAAGGTAAACAGAAATCTTCATAATCTCA AATACTGTAAGAAAACTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGT TCTGCATCATAGCACTACTAATAAAGCTAATTTTAACAAAACCTTATAAA TGAATCCATCCAATCTCACGCAAGATAATATTTCTTTTCCAAGATTTCTT TTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCC CAGGCTGGAGTGTAGTGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCACTACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCGCCGGCCAGATTCTTTTCTATAGATGTTTTACAACTTAAAAAAAATA TCTGGCCGGGCACCGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGTGGATCATGAGGGCAGGAGATTGAGACCAGCCTGGCTAACA C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0002 a0001c0001t0012g0002	1	419	0.0024	850	c.-50 others(861): Show c.-5087_-5086insGTGAAACCCTGTCTCTACTAAAAATATAAAAAAT TAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATTGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAG ACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTGTCTCAA AAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAACAGAA ATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAACAGAGA AGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAATTTTA ACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATATTTCT TTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCGCCGGCCAGATTCTTTTCTATAGATGTTTTAC AACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATTGAGA CCAGCCTGGCTAACAC	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4666		chr22	TogoVar
DGKB_chr7_14140049_14907751	14471356	A A	AATATGTG others(843): Show AATATGTGTATACATACATATATGTATGGAATATATGTGTATACATACAT ATATGTATGGAATATATGTGTATACATACATATATGTATGGAATATATGT GTATACATACATATATGTATGGAATATATGTGTATACATACATATATGTG TGTATATATGTGTATACATACATATATGTGTGTATATATGTGTATACATA CATATATGTGTGTATATATGTGTATATATACATATATGTGTGTATATATA CATATATGTGTGTATATGTGTGTATACATACATATATGTGTGTATATGCG TGTATATATGTGTATACACACATATGCGCGTGTATATATGTGTATACACA CATATGCGCGTGTATATATGTGTATACACACATATGCGCGTGTATATATG TGTATACACACATATGCGCGTGTATATATGTGTATACACACATATGCGCG TGTATATGTGTGTATACACACATATGCGCGTGTATATGTGTGTATACACA CATATGCGCGTGTATATGTGTGTATACACATATGCGCGTGTATATGTGTG TATACACATATGCGCGTGTATATGTGTGTATACACATATGCGTGTGTATA TGTGTGTATATACATATGCGTGTGTATATGTGTGTATATACATATGCGTG TGTATATGTGTGTATATACATATGCGTGTGTATATGTGTGTATATACATA TGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATATGTGTGTATA TACATATATATGAGTGTATATATGTGTATATATACATATATATGCGTGTA TATATACGTATATATGCATGTATATATGTGTATACATACATATATGCATG T	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	148	0.0068	850	c.183 others(869): Show c.1835+6804_1835+6805insACATGCATATATGTATGTATACACAT ATATACATGCATATATACGTATATATACACGCATATATATGTATATATAC ACATATATACACTCATATATATGTATATACACACATATACACACGCATAT GTATATACACACATATACACACGCATATGTATATACACACATATACACAC GCATATGTATATACACACATATACACACGCATATGTATATACACACATAT ACACACGCATATGTATATACACACATATACACACGCATATGTGTATACAC ACATATACACGCGCATATGTGTATACACACATATACACGCGCATATGTGT ATACACACATATACACGCGCATATGTGTGTATACACACATATACACGCGC ATATGTGTGTATACACACATATACACGCGCATATGTGTGTATACACATAT ATACACGCGCATATGTGTGTATACACATATATACACGCGCATATGTGTGT ATACACATATATACACGCGCATATGTGTGTATACACATATATACACGCGC ATATGTGTGTATACACATATATACACGCATATACACACATATATGTATGT ATACACACATATACACACATATATGTATATATACACACATATATGTATAT ATACACATATATACACACATATATGTATGTATACACATATATACACACAT ATATGTATGTATACACATATATACACACATATATGTATGTATACACATAT ATTCCATACATATATGTATGTATACACATATATTCCATACATATATGTAT GTATACACATATATTCCATACATATATGTATGTATACACATATATTCCAT ACATATATGTATGTATACACATAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DPEP1_chr16_89608642_89643433	89619039	T T	TGCTCCCC others(843): Show TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTTCCCC TCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCC CCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCT CCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTG ACCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC CTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCC C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	250	0.0040	850	c.-10 others(869): Show c.-107+5337_-107+5338insTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCGC TTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGC CCCCTGACCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CTCCCCCGCTCCCCTCCCTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EXOC2_chr6_480154_698139	520426	C C	CCACCGAG others(843): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	272	0.0037	850	c.238 others(871): Show c.2380+12042_2380+12043insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520545	A A	ACCGTCCA others(843): Show ACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCCGACACTC ACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCCGACACTC GCCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCGACACTC GCCGTCCACACTCGGAGACGAGAACCACCACCCACCGAGCGCCGACACTC GCCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCCGACACTC GCCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCCGACACTC G	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0033 a0001c0001t0006g0033	1	272	0.0037	850	c.238 others(871): Show c.2380+11923_2380+11924insCGAGTGTCGGCGCTCGGTGCGTGG TGGTTCTCGTCTCCGAGTGTGGACGGCGAGTGTCGGCGCTCGGTGCGTGG TGGTTCTCGTCTCCGAGTGTGGACGGCGAGTGTCGGCGCTCGGTGGGTGG TGGTTCTCGTCTCCGAGTGTGGACGGCGAGTGTCGGCGCTCGGTGGGTGG TGGTTCTCGTCTCCGAGTGTGGACGGCGAGTGTCGGCGCTCGGTGCGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGCGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGCGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGGGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGGGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGGGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGGGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGCGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGGGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGGGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGGGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGGGTGG TGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGCGTGG TGGTTCTCGTCTCCGAGTGTGGACGG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar

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Search Results (Total: 7053 hits)