Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(580): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATAACATATATGTATT ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATAACATATATGTATTACATATAT GTATTACATATATAACATATATGTATTACATATATGTATTACATATATAA CATATATGTATTACATATATAACATATATGTATTACATATATGTATTACA TATATAACATATATGTATTACATATATGTATTACATATATAACATATATG TATTACATATATGTATTACATATATAACATATATGTATTACATATATGTA TTACATATATAACATATATGTATTACATATATGTATTACATATATAACAT ATATGTATTACATATATGTATTACATATATAACATATATGTATTACATAT ATGTAATACATATATAACATATATGTATTACATATATGTAATACATATAT AACATATATGTATTACATATATGTAATACACATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	122	0.0082	587	c.70 others(598): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TAACATATATGTATTACATATATGTATTACATATATAACATATATGTATT ACATATATGTATTACATATATAACATATATGTATTACATATATAACATAT ATGTATTACATATATGTATTACATATATAACATATATGTATTACATATAT GTATTACATATATAACATATATGTATTACATATATAACATATATGTATTA CATATATGTATTACATATATAACATATATGTATTACATATATGTATTACA TATATAACATATATGTATTACATATATGTATTACATATATAACATATATG TATTACATATATGTATTACATATATAACATATATGTATTACATATATGTA TTACATATATAACATATATGTATTACATATATGTATTACATATATAACAT ATATGTATTACATATATGTAATACATATATAACATATATGTATTACATAT ATGTAATACATATATAACATATATGTATTACATATATGTAATACACATAT AAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(580): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATGTATGTATTACATATA TGTAATACATATATAACATGTATGTATTACATATATGTAATACATATATA ACATGTATGTATTACATATATGTAATACATATATAACATGTATGTATTAC ATATATGTAATACATATATAACATGTATGTATTACATATATGTAATACAT ATATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	122	0.0082	587	c.70 others(598): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATG TATGTATTACATATATGTAATACATATATAACATGTATGTATTACATATA TGTAATACATATATAACATGTATGTATTACATATATGTAATACATATATA ACATGTATGTATTACATATATGTAATACATATATAACATGTATGTATTAC ATATATGTAATACATATATAACATGTATTACATATATGTAATACATATAT AAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(580): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATACATGTATTACATATATGTAATACAT ATATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0001 a0001c0001t0033g0001	1	122	0.0082	587	c.70 others(598): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATACATGTATTAC ATATATGTAATACATATATAACATGTATTACATATATGTAATACATATAT AAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721656	A A	ATATATGT others(580): Show ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATTACGTATATGTAATACACATATAACATATATTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	278	0.0036	587	c.70 others(598): Show c.7094_*7095insTATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATTACGTATATGTAATACACATATAACATATATT ACG	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3176		chr20	TogoVar
PCDH15_chr10_53797771_54806231	54332348	A A	AATATAAT others(580): Show AATATAATATAATCTATATTATATATTATTATATATAATATAATATAATC TATATTATATATTATTATATATAATATAATATAATCTATATTATATATTA TTATATATAATATAATATAATCTATATTATATATTATTATATATAATATA ATATAATCTATATTATATATTATTATATATAATATAATATAATCTATATT ATATATTATTATATATAATATAATATAATCTATATTATATATTATTATAT ATAATATAATATAATCTATATTATATATTATTATATATAATATAATATAA TCTATATTATATATTATTATATATAATATAATATAATCTATATTATATAT TATTATATATAATATAATATAATCTATATTATATATTATTATATATAATA TAATATAATCTATATTATATATTATTATATATAATATAATATAATCTATA TTATATTATATATAATATAATATAATCTATATTATATATTATTATATATA ATATAATCTATATTATATATTATTATATATAATATAATCTATATTATATA TTATTATATATAATATAATCTATATTATATATTATTAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0003 a0001c0001t0008g0003	1	97	0.0103	587	c.595 others(604): Show c.595-2643_595-2642insATAATAATATATAATATAGATTATATTA TATATAATAATATATAATATAGATTATATTATATATAATAATATATAATA TAGATTATATTATATATAATAATATATAATATAGATTATATTATATTATA TATAATATAATATAGATTATATTATATTATATATAATAATATATAATATA GATTATATTATATTATATATAATAATATATAATATAGATTATATTATATT ATATATAATAATATATAATATAGATTATATTATATTATATATAATAATAT ATAATATAGATTATATTATATTATATATAATAATATATAATATAGATTAT ATTATATTATATATAATAATATATAATATAGATTATATTATATTATATAT AATAATATATAATATAGATTATATTATATTATATATAATAATATATAATA TAGATTATATTATATTATATATAATAATATATAATATAGATTATATTATA TTATATATAATAATATATAATATAGATTATATTATATTATATATAATAAT ATATAATATAGATTATATTATATTATATATAATAATATATAATATAGATT ATATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54332348	A A	AATATAAT others(580): Show AATATAATATAATCTATATTATATATTATTATATATAATATAATATAATC TATATTATATATTATTATATATAATATAATATAATCTATATTATATATTA TTATATATAATATAATATAATCTATATTATATATTATTATATATAATATA ATATAATCTATATTATATATTATTATATATAATATAATATAATCTATATT ATATATTATTATATATAATATAATATAATCTATATTATATATTATTATAT ATAATATAATATAATCTATATTATATATTATTATATATAATATAATATAA TCTATATTATATATTATTATATATAATATAATATAATCTATATTATATAT TATTATATATAATATAATATAATCTATATTATATATTATTATATATAATA TAATATAATCTATATTATATATTATTATATATAATATAATATAATCTATA TTATATTATATATAATATAATATAATCTATATTATATATTATTATATATA ATATAATCTATATTATATATTATTATATATAATATAATCTATATTATATA TTATTATATATAATATAATCTATATTATATATTATTAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	89	0.0112	587	c.595 others(604): Show c.595-2643_595-2642insATAATAATATATAATATAGATTATATTA TATATAATAATATATAATATAGATTATATTATATATAATAATATATAATA TAGATTATATTATATATAATAATATATAATATAGATTATATTATATTATA TATAATATAATATAGATTATATTATATTATATATAATAATATATAATATA GATTATATTATATTATATATAATAATATATAATATAGATTATATTATATT ATATATAATAATATATAATATAGATTATATTATATTATATATAATAATAT ATAATATAGATTATATTATATTATATATAATAATATATAATATAGATTAT ATTATATTATATATAATAATATATAATATAGATTATATTATATTATATAT AATAATATATAATATAGATTATATTATATTATATATAATAATATATAATA TAGATTATATTATATTATATATAATAATATATAATATAGATTATATTATA TTATATATAATAATATATAATATAGATTATATTATATTATATATAATAAT ATATAATATAGATTATATTATATTATATATAATAATATATAATATAGATT ATATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32			chr10	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(580): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAG AAAGGAAAGAAAGAAAGAACAGAAAGAAAGAAAGAAAGAAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAGGAA GGAAGGGAAAGAAAAGAAAAAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0213 a0002c0002t0001g0213	1	202	0.0050	587	c.20- others(602): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTTTTTCTTTTCTT TCCCTTCCTTCCTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTGTTCTTTCTTTC TTTCCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTC TTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PRKCZ_chr1_2045411_2190395	2106627	C C	CTCAGCAA others(580): Show CTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCC AGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGT CACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGCGAGGACCTC CACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCG AGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTC CGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCA AGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGAC TCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGG CCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTG TCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCT CCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGG CGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0096	1	210	0.0048	587	c.335 others(606): Show c.335-28621_335-28620insCGGTGGGCGAGGACCTCCACACGTGT CACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTC CATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCTGGTGGGC GAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTC CGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGC AGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAA CTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGG CCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGT GTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCT CCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGG CGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCC TCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCA GCAAGCCCCTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106721	C C	CGTGTCAC others(580): Show CGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGA CCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGT GGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAGGC CCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTAACTCT CAGCAAGCCCCTCCAGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAG GTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCA CCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCAC ACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAG GACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCG GTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAG GCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACT CTTCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	259	0.0039	587	c.335 others(606): Show c.335-28505_335-28504insCGGTGGGCGAGGACCTCCACACGTGT CACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTC CATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGC GAGGACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTC CAGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGC AGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTAA CTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGG CCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCACACGT GTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGGCGAGGACC TCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGG GCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCC CTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCA GCAAGCCCCTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123660	C C	CGGCTGTA others(580): Show CGGCTGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCT GTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGA TCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTT GGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTC ACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAG GGTCATGGTGGTAGGGTCACGGCTATAGTTAGGGTCAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03239.hp1 HG00280.hp2 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0032 a0001c0003t0001g0139 a0001c0002t0002g0032 a0001c0003t0001g0139	2	119	0.0168	587	c.335 others(606): Show c.335-11600_335-11599insCTGTAGTTAGGGTCATGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGGGTCA CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGGGTCACGGCTATAGT TAGGGTCATGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(580): Show CCCTCCCTCTCCACCTCCCTCTCTCCCTCCTCTCTCCACCTCCCCTCTCT CCCTCCTCCTCTCCACCTCCCCTCTCTCTCCTCCCTCCCCTCTCTCTCAC CTCCCCTCTCTCTCCCCTCCCTCTCTCCACCTCCCCCTCTCTCTTCCTCC CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCC TCCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCTCTCTCCCT CCCTCCTCTCCACCCTCCCCTCTCCCTCCCTCCCCTCCCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCCCCTCCCTCTCCACCTCCCCTCTCTCTCTC CTTCCTCCCTCTCCACCCTCCCCCTCTCTCTCCCTCCCCTCTCTCCACCT TCCCCTGTCTCCACCTCCCCTCCCTCTCTCCACCTCCCCTCTCTCCACCT CCCCTCTCTCTCTCTCCCTCCCTCCACTCCCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCCTCTTCCTCCCTCTCCACCTTCCCCTCTCTCTCCCTCC CTCTCTCCCCTTCCCTGTCTCCACCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	73	0.0137	587	c.23 others(598): Show c.2397_*2398insCCTCCCTCTCCACCTCCCTCTCTCCCTCCTCTCT CCACCTCCCCTCTCTCCCTCCTCCTCTCCACCTCCCCTCTCTCTCCTCCC TCCCCTCTCTCTCACCTCCCCTCTCTCTCCCCTCCCTCTCTCCACCTCCC CCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCCTCCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCC ACCTCCTCTCTCCCTCCCTCCTCTCCACCCTCCCCTCTCCCTCCCTCCCC TCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCCTCCCTCTCCACC TCCCCTCTCTCTCTCCTTCCTCCCTCTCCACCCTCCCCCTCTCTCTCCCT CCCCTCTCTCCACCTTCCCCTGTCTCCACCTCCCCTCCCTCTCTCCACCT CCCCTCTCTCCACCTCCCCTCTCTCTCTCTCCCTCCCTCCACTCCCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCCTCTTCCTCCCTCTCCACCTTCC CCTCTCTCTCCCTCCCTCTCTCCCCTTCCCTGTCTCCACCTCCCCTCCCT CTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(580): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTG GTGGTAATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAAT GGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATG GTGATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGAT GGTGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGA TGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGG TAATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATG GTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGAT GGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02451.hp1 HG03139.hp2 HG00741.hp2 HG02451.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0105 a0001c0001t0001g0208 a0001c0001t0001g0055 a0001c0001t0001g0105 a0001c0001t0001g0208	3	201	0.0149	587	c.-46 others(598): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGATGGTGATGGTGATGGTA GTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGGT GGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGA TGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTG GTGGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGTGGTGGT GGTGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGGTGATGA TGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGG TGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTGGTGGTG GTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGAT GGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGG TAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RBFOX3_chr17_79084345_79616051	79555310	G G	GTGGTATT others(580): Show GTGGTATTGATGGAGATGATGATGACAGTGATAATGGTGGTGGTGGTAAT GGTGATTATATGTCAGTGATGGTGGTGGTGGTGGTGATGGTGATGATAGT CATGATGGTGGTGATAGTGATGGCAATGGTGATGATGGCAGTGATGGTGA TTATGAGAGTAGTGATGGTGGTGATGGCGATGGTAATGGTGATAATGGCG ATGATGGTGGTGATGGTGATGATGATAGTAATGATGGTGGTGATGGCAGT GGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGACGGCAGTGG TGGTGGTGGTAATGGTGATCATGTCAGTGATGGTGGTGGTGGTGATGATA GTAATGATGGTGGTGATGGTGGTGGCAATGGTGATGATGGCAGTGATGGC GGTGAGGGTGATTATGATAGTAGTGATGGTGATGGCAATGGTAATGGTGA TAATGGCGATGATGGTGGTGATGGTGATGATGATAGTAATGATGGTGGTG ATGGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGAC GGCAGTGGTGGTGGTGGTAATGGTGATCATGTCAGTGA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0030 a0001c0001t0020g0030	1	142	0.0070	587	c.-32 others(608): Show c.-320+55515_-320+55516insTCACTGACATGATCACCATTACCA CCACCACCACTGCCGTCACCACCATTATCACTATTATCACCACCGTTACC ACCACCACTGCCATCACCACCATCATTACTATCATCATCACCATCACCAC CATCATCGCCATTATCACCATTACCATTGCCATCACCATCACTACTATCA TAATCACCCTCACCGCCATCACTGCCATCATCACCATTGCCACCACCATC ACCACCATCATTACTATCATCACCACCACCACCATCACTGACATGATCAC CATTACCACCACCACCACTGCCGTCACCACCATTATCACTATTATCACCA CCGTTACCACCACCACTGCCATCACCACCATCATTACTATCATCATCACC ATCACCACCATCATCGCCATTATCACCATTACCATCGCCATCACCACCAT CACTACTCTCATAATCACCATCACTGCCATCATCACCATTGCCATCACTA TCACCACCATCATGACTATCATCACCATCACCACCACCACCACCATCACT GACATATAATCACCATTACCACCACCACCATTATCACTGTCATCATCATC TCCATCAATACCA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBMS3_chr3_29276071_30015386	29714174	C C	CAAATATC others(580): Show CAAATATCCTATACTTCTGAAGCTTGTCCCTTCATGAGGAAGAAAGTCAA CAAAATAAGAAAATTATATAGTAAGCCATATAGTACCACATTATTCTGGA GAAAGTTAAAGCATGTCAAGGGGGTAAGATAAAGGTGTATGTGTACAAAA GTGGTGAGGGGTGCCCTCTTTGAGAAGGTAATGTTTTTCAAAGATTTTTT TCAATGATCTGAGCAAGAGAGCTATGTGGTTTCCTGGAGAAATATGACTC TAAGCAGAGGGAACATCAGATGCAGAAACCCTGAGGCAGAAACAGGCCTG GGGTGTTTGACGAACAGTAAGGAAACCTCAGTGGCTGGAGTAAAATAAGC CAGGGGAAATTAATAGGAGATGAGGTCAAGGAGGAAGCAGAGTAGGGCAG AGTCTTGCAAATTATTTTACGGACTTCTGTTTTCATTCTGAGTGAGGTGG AAAGGCACTGTAGATTTTATGCAAAACAGTGATAGGATAAAATTTACAGT TTCAAAAGAATTATTCAATTTGCTGTGCTGAGACGGCACCATCAGTGGGC AAAGGTGGAAGCAGGGAGACCAGTCAGGAGGCTATGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG01515.hp1 others(2): Show HG00099.hp2 HG00280.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 others(1): Show a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 a0001c0003t0064	a0001c0001t0013g0005 a0001c0001t0016g0063 a0001c0001t0019g0054 others(2): Show a0001c0001t0013g0005 a0001c0001t0016g0063 a0001c0001t0019g0054 a0001c0001t0019g0055 a0001c0003t0064g0071	5	111	0.0450	587	c.400 others(606): Show c.400-25544_400-25543insATATCCTATACTTCTGAAGCTTGTCC CTTCATGAGGAAGAAAGTCAACAAAATAAGAAAATTATATAGTAAGCCAT ATAGTACCACATTATTCTGGAGAAAGTTAAAGCATGTCAAGGGGGTAAGA TAAAGGTGTATGTGTACAAAAGTGGTGAGGGGTGCCCTCTTTGAGAAGGT AATGTTTTTCAAAGATTTTTTTCAATGATCTGAGCAAGAGAGCTATGTGG TTTCCTGGAGAAATATGACTCTAAGCAGAGGGAACATCAGATGCAGAAAC CCTGAGGCAGAAACAGGCCTGGGGTGTTTGACGAACAGTAAGGAAACCTC AGTGGCTGGAGTAAAATAAGCCAGGGGAAATTAATAGGAGATGAGGTCAA GGAGGAAGCAGAGTAGGGCAGAGTCTTGCAAATTATTTTACGGACTTCTG TTTTCATTCTGAGTGAGGTGGAAAGGCACTGTAGATTTTATGCAAAACAG TGATAGGATAAAATTTACAGTTTCAAAAGAATTATTCAATTTGCTGTGCT GAGACGGCACCATCAGTGGGCAAAGGTGGAAGCAGGGAGACCAGTCAGGA GGCTATGGTAA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29714174	C C	CAAATATC others(580): Show CAAATATCCTATACTTCTGAAGCTTGTCCCTTCATGAGGAAGAAAGTCAA CAAAATAAGAAAATTATATAGTAAGCCATATGGTACCACATTATTCTGGA GAAAGTTAAAGCATGTCAAGGGGGTAAGATAAAGGTGTATGTGTACAAAA GTGGTGAGGGGTGCCCTCTTTGAGAAGGTAATATTTTTCAAAGATTTTTT TCAATGATCTGAGCAAGAGAGCTATGTGGTTTCCTGGAGAAATATGACTC TAAGCAGAGGGAACATCAGATGCAGAAACCCTGAGGCAGAAACAGGCCTG GGGTGTTTGACGAACAGTAAGGAAACCTCAGTGGCTGGAGCAAAATAAGC CAGGGGAAATTAATAGGAGATGAGGTCAAGGAGGAAGCAGAGTAGGGCAG AGTCTTGCAAATTATTTTACGGACATCTGTTTTCATTCTGAGTGAGGTGG AAAGGCACTGTAGATTTTATGCAAAACAGTGATAGGATAAAATTTACAGT TTCAAAAGAATTATTCAATTTGCTGTGCTGAGACGGCACCATCAGTGGGC AAGGGTGGAAGCAGGGAGACCAGTCAGGAGGCTATGGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp2 HG02451.hp2 HG01261.hp2 HG01891.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0036 a0001c0001t0078 a0001c0001t0033 a0001c0001t0036 a0001c0001t0078	a0001c0001t0033g0042 a0001c0001t0036g0047 a0001c0001t0078g0066 a0001c0001t0033g0042 a0001c0001t0036g0047 a0001c0001t0078g0066	3	109	0.0275	587	c.400 others(606): Show c.400-25544_400-25543insATATCCTATACTTCTGAAGCTTGTCC CTTCATGAGGAAGAAAGTCAACAAAATAAGAAAATTATATAGTAAGCCAT ATGGTACCACATTATTCTGGAGAAAGTTAAAGCATGTCAAGGGGGTAAGA TAAAGGTGTATGTGTACAAAAGTGGTGAGGGGTGCCCTCTTTGAGAAGGT AATATTTTTCAAAGATTTTTTTCAATGATCTGAGCAAGAGAGCTATGTGG TTTCCTGGAGAAATATGACTCTAAGCAGAGGGAACATCAGATGCAGAAAC CCTGAGGCAGAAACAGGCCTGGGGTGTTTGACGAACAGTAAGGAAACCTC AGTGGCTGGAGCAAAATAAGCCAGGGGAAATTAATAGGAGATGAGGTCAA GGAGGAAGCAGAGTAGGGCAGAGTCTTGCAAATTATTTTACGGACATCTG TTTTCATTCTGAGTGAGGTGGAAAGGCACTGTAGATTTTATGCAAAACAG TGATAGGATAAAATTTACAGTTTCAAAAGAATTATTCAATTTGCTGTGCT GAGACGGCACCATCAGTGGGCAAGGGTGGAAGCAGGGAGACCAGTCAGGA GGCTATGGTAA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPH3AL_chr17_207389_357807	305060	G G	GAGGGGGA others(580): Show GAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAG GGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGG ACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAG GGCAAGAGGGGGACAGGGCGGGAGGGGACAGGGCGGGAGGGGGACAGGGC GGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGA GAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGA GGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGG GGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGA CAGGGCGAGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGACAG GGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	128	0.0078	587	c.351 others(606): Show c.351+14359_351+14360insGCCGCCCTGTCCCCCTCTCGCCCTGT CCCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCC CCTCTCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCT CTCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGC CCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCC TGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCCCGCCCTGT CCCCCTCTTGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCC CCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCC CGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGC CCTGTCCCCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SCUBE1_chr22_43192280_43348372	43281314	T T	TTGGCCAC others(580): Show TTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTG GCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCC ATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTC ACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATC CTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCT GTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTC ATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACC TCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCC CTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTC AGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTC AGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGC TATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0154 a0003c0001t0001g0154	1	268	0.0037	587	c.484 others(604): Show c.484+9731_484+9732insGAGGTGACAGGAGGATGGCTGAGGGAGG TGACAGGATAGCTGAGGAGGAGATGACAGAAGGGTGGCCAAGGGAGGTGA CAGGGTGACTGAGGAGGAGGTGACAGGAGGGTGGCCAAGGGAGGTGACAG GAGGATGGCTGAGGGAGGTGACAGGATAGCTGAGGAGGAGATGACAGAAG GGTGGCCAAGGGAGGTGACAGGGTGACTGAGGAGGAGGTGACAGGAGGGT GGCCAAGGGAGGTGACAGGAGGATGGCTGAGGGAGGTGACAGGATAGCTG AGGAGGAGATGACAGAAGGGTGGCCAAGGGAGGTGACAGGGTGACTGAGG AGGAGGTGACAGGAGGGTGGCCAAGGGAGGTGACAGGAGGATGGCTGAGG GAGGTGACAGGATAGCTGAGGAGGAGATGACAGAAGGGTGGCCAAGGGAG GTGACAGGGTGACTGAGGAGGAGGTGACAGGAGGGTGGCCAAGGGAGGTG ACAGGAGGATGGCTGAGGGAGGTGACAGGATAGCTGAGGAGGAGATGACA GAAGGGTGGCCAAGGGAGGTGACAGGGTGACTGAGGAGGAGGTGACAGGA GGGTGGCCA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SHANK1_chr19_50654255_50724802	50679070	A A	ATGGAGAG others(580): Show ATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT CAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG GAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGA TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGG GTCAGGGTGATGGGGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG GGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGTGTGATGGAGAG GGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGA TGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTC AGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGG AGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTG ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0118 a0001c0002t0015g0118	1	304	0.0033	587	c.257 others(606): Show c.2578-6957_2578-6956insCACCCTGACCCCTCCCCATCACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATC ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCT CCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA TCACCCTGACCCCTCTCCATCACACTGACCCCTCCCCATCACCCTGACCC CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACC CTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCCC CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGAC CCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC CCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTG ACCCCTCTCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SPATC1L_chr21_46156160_46189459	46169703	G G	GCCTCCTG others(580): Show GCCTCCTGCTTTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCTGCTCT GTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCT CTGTGGATGGGGAGGAGCCCCCTGCTCTGTGAACATCCTCTGTGGATGGG GAGGAGCCCCCTACTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCTCC TGCTCTGTGAGCATCCTCGTGGATGGGGAGGAGCCCCCTGCTCTGTGAAC ATCCTCTGTGGATGGGGAGGAGCCTCCCTGCTCTGTGAGCATCCTCTGTG GATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGA GCCTCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCT CTGTGAGCATCCTCTGTGGTCCAGGAGGAGCCTCCTGCTCTGTGAACATC CTCTGTGGATGGGGAGGAGCCTCCCTGCTCTGTGAGCATCCTCTGTGGAT GGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGTCCAGGAGGAGCC TCCTGCTCTGTGAACATCCTCTGTGGATGTGGAGGAGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01070.hp1 HG01071.hp2 others(12): Show HG00597.hp2 HG01070.hp1 HG01071.hp2 HG01243.hp2 HG01346.hp2 HG02523.hp1 HG02738.hp2 HG03654.hp1 HG03669.hp1 NA18983.hp2 NA19004.hp1 NA19065.hp2 NA19076.hp2 NA20129.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0020 a0003c0004t0005 others(2): Show a0001c0001t0001 a0001c0001t0020 a0003c0004t0005 a0003c0004t0026 a0003c0004t0027	a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 others(12): Show a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0020g0024 a0003c0004t0005g0101 a0003c0004t0005g0147 a0003c0004t0005g0148 a0003c0004t0005g0151 a0003c0004t0005g0152 a0003c0004t0005g0158 a0003c0004t0026g0153 a0003c0004t0027g0149	15	230	0.0652	587	c.194 others(604): Show c.194-1046_194-1045insGCTCCTCCACATCCACAGAGGATGTTCA CAGAGCAGGAGGCTCCTCCTGGACCACAGAGGATGCTCACAGAGCAGGAG GCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGGAGGCTCCTCCCC ATCCACAGAGGATGTTCACAGAGCAGGAGGCTCCTCCTGGACCACAGAGG ATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGA GCAGGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGAGGCT CCTCCCCATCCACAGAGGATGCTCACAGAGCAGGGAGGCTCCTCCCCATC CACAGAGGATGTTCACAGAGCAGGGGGCTCCTCCCCATCCACGAGGATGC TCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGTTCACAGAGTAG GGGGCTCCTCCCCATCCACAGAGGATGTTCACAGAGCAGGGGGCTCCTCC CCATCCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGA GGATGCTCACAGAGCAGGGGCTCCTCCCCATCCACAGAGGATGCTCACAA AGCAGGAGG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
SUFU_chr10_102498972_102638535	102637258	A A	ATATATAT others(580): Show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	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	244	0.0041	587	c.71 others(598): Show c.7103_*7104insTATATATAATATATATATTATATATTATATAACT ATATATATATATATAATATATATTATATATATATATATATATATATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATTATATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATTATATATATATTATATATTATATAACTATATATTA TATATATATATTATATATTATATAACTATATATTATATATATATATATAT TATATAACTATATATTATATATTATATATATTATATATTATATAACTATA TAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3724		chr10	TogoVar
TBC1D16_chr17_79927343_80040872	80024453	C C	CACACCAT others(580): Show CACACCATAGACACACACCACACGCACCATAGACAAACCACACGCACCAT ACACACACCACACACCATATACACACACGCCACACACCACACACCATAGG CACACACACCACACACCATAGACATACACACCACACACCATAAGCACACA CACCACACACACCATAGACACACATACCACACACCACACACCACACACCA TACCACACACCACAACACACACCATAGACACACACACCATACACCATAGA CACACATACCACACACACCATAGACACACACACTACACATCATAGACACA CACACCACACACCATAGACACACACCACACGCACCATAGACAAACCACAC ACACCATACACACACCACACACCATATACACACACACCACACACCACACA CCATAGGCACACACACCACACACCACACACCATAGACACACACACCACAC ACCATAAGCACACACACCACACACACCATAGACACACATACCACACACCA CACACCATACCACACACAACACACACCATAGACACACACACCATACACCA TAGACACACATACCACACACATCATAGACACACACACT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00597.hp1 others(33): Show HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01256.hp1 HG01261.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02280.hp1 HG02523.hp1 HG02523.hp2 HG02818.hp2 HG03490.hp1 HG03704.hp1 HG03704.hp2 HG03942.hp1 NA18942.hp2 NA18950.hp2 NA18974.hp2 NA18984.hp1 NA18989.hp1 NA19005.hp1 NA19055.hp2 NA19066.hp1 NA19074.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0010 a0016	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0018 a0006c0023 a0010c0030 a0016c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0023 a0001c0002t0010 a0001c0003t0001 a0001c0003t0003 a0001c0003t0014 a0001c0003t0027 a0001c0003t0033 a0001c0003t0044 a0001c0003t0054 a0001c0004t0001 a0001c0004t0004 a0001c0004t0007 a0001c0004t0019 a0001c0004t0058 a0003c0018t0008 a0006c0023t0084 a0010c0030t0070 a0016c0024t0001	a0001c0001t0001g0048 a0001c0001t0001g0272 a0001c0001t0001g0312 others(33): Show a0001c0001t0001g0048 a0001c0001t0001g0272 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0270 a0001c0001t0005g0260 a0001c0001t0005g0266 a0001c0001t0007g0262 a0001c0001t0012g0246 a0001c0001t0015g0225 a0001c0001t0015g0265 a0001c0001t0016g0254 a0001c0001t0021g0257 a0001c0001t0023g0251 a0001c0001t0023g0264 a0001c0002t0010g0269 a0001c0003t0001g0248 a0001c0003t0003g0249 a0001c0003t0014g0263 a0001c0003t0027g0243 a0001c0003t0033g0231 a0001c0003t0044g0255 a0001c0003t0054g0256 a0001c0004t0001g0271 a0001c0004t0004g0258 a0001c0004t0007g0259 a0001c0004t0019g0250 a0001c0004t0058g0226 a0003c0018t0008g0326 a0006c0023t0084g0244 a0010c0030t0070g0261 a0016c0024t0001g0227	36	81	0.4444	587	c.-62 others(606): Show c.-62-10845_-62-10844insAGTGTGTGTGTCTATGATGTGTGTGG TATGTGTGTCTATGGTGTATGGTGTGTGTGTCTATGGTGTGTGTTGTGTG TGGTATGGTGTGTGGTGTGTGGTATGTGTGTCTATGGTGTGTGTGGTGTG TGTGCTTATGGTGTGTGGTGTGTGTGTCTATGGTGTGTGGTGTGTGGTGT GTGTGCCTATGGTGTGTGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTG TGTGTATGGTGTGTGTGGTTTGTCTATGGTGCGTGTGGTGTGTGTCTATG GTGTGTGGTGTGTGTGTCTATGATGTGTAGTGTGTGTGTCTATGGTGTGT GTGGTATGTGTGTCTATGGTGTATGGTGTGTGTGTCTATGGTGTGTGTTG TGGTGTGTGGTATGGTGTGTGGTGTGTGGTGTGTGGTATGTGTGTCTATG GTGTGTGTGGTGTGTGTGCTTATGGTGTGTGGTGTGTATGTCTATGGTGT GTGGTGTGTGTGCCTATGGTGTGTGGTGTGTGGCGTGTGTGTATATGGTG TGTGGTGTGTGTATGGTGCGTGTGGTTTGTCTATGGTGCGTGTGGTGTGT GTCTATGGTGT	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11			chr17	TogoVar
TECTA_chr11_121096243_121196490	121185585	C C	CAGATGTT others(580): Show CAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCT TAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGG GAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCA ATGCTTAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATG AGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAAT GAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAGTAGGGAA AGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0139 a0001c0003t0002g0139	1	344	0.0029	587	c.600 others(606): Show c.6000-2240_6000-2239insCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGTTGAATG CTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTA GGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT GAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAA AGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTG CTTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGA AAGAAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121185956	G G	GAATGAGT others(580): Show GAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATG AGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAAT GAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAG ATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAA TGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAA AGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATG CTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0031 a0001c0005t0001g0031	1	171	0.0058	587	c.600 others(606): Show c.6000-1818_6000-1817insGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATG AGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTGAATGCTTAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTGAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAA AGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATG CTTAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGA AAGCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121185956	G G	GAATGAGT others(580): Show GAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATG AGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAAT GAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAG ATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAA TGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAA AGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATG CTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0158 a0001c0005t0001g0158	1	171	0.0058	587	c.600 others(606): Show c.6000-1818_6000-1817insGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGC TTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATG AGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTGAATGCTTAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTGAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAA AGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATG CTTAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGA AAGCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GGTTAGGG others(580): Show GGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTC AGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGC CAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCGGG GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGG AGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGC CAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGG GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGG AGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACC AAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 NA20752.hp2 HG01952.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	167	0.0120	587	c.49 others(598): Show c.4905_*4906insACCCCTGGCCTCCCTAACCCCTGGCCTCCCTGAC CCTTGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTG GCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCC TAACCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACC CCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCC TAACCCCGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATC CCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCG GCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCT CCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCT AAC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TPK1_chr7_144446941_144841053	144780558	T T	TATATTAT others(580): Show TATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATA TATATTATATTATATAGTATATAATATAGTATATATTATATAGTATATAA TATAGTATATATTATATAGTATATAATATAGTATATATTATATAGTATAT AATATAGTATATATTATATAGTATATAATATAGTATATATTATATAGTAT ATAATATAGTATATATTATATAGTATATAATATAGTATATATTATATAGT ATATAATATAGTATATATTATATAGTATATAATATAGTATATATTATATA GTATATAATATAGTATATATTATATAGTATATAATATAGTATATATTATA TAGTATATAATATAGTATATATTATATAGTATATAATATAGTATATAATA TTATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAGT ATATTATATTATATAGTATATAATATAGTATATTATATTATATAGTATAT AATATAGTATATTATATTATATAGTATATAATATAGTATATTATATTATA TAGTATATAATATAGTATATTATATTATATAGTATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	80	0.0125	587	c.44- others(604): Show c.44-14608_44-14607insTATATACTATATAATATAATATACTATA TTATATACTATATAATATAATATACTATATTATATACTATATAATATAAT ATACTATATTATATACTATATAATATAATATACTATATTATATACTATAT AATATAATATACTATATTATATACTATATAATATAATATACTATATTATA TACTATATAATATTATATACTATATTATATACTATATAATATATACTATA TTATATACTATATAATATATACTATATTATATACTATATAATATATACTA TATTATATACTATATAATATATACTATATTATATACTATATAATATATAC TATATTATATACTATATAATATATACTATATTATATACTATATAATATAT ACTATATTATATACTATATAATATATACTATATTATATACTATATAATAT ATACTATATTATATACTATATAATATATACTATATTATATACTATATAAT ATATACTATATTATATACTATATAATATATACTATATTATATACTATATA ATATAATATATATTATATACTATATAATATAATATACTATATTATATACT ATATAATAT	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TRAF6_chr11_36478769_36515272	36507212	A A	ATAAATGT others(580): Show ATAAATGTATATACGTATATATACATGTATTATACATACGTAAATGTATA TACGTATATATACATGTATTATACATACGTAAATGTATATACGTATATAT ACATGTATTATACATACGTAAATGTATATACGTATATATACATGTATTAT ACATACGTAAATGTATATACGTATATATACATGTATTATACATACGTAAA TGTATATACGTATATATACATGTATTATACATACGTAAATGTATATACGT ATATATACATGTATTATACATACGTAAATGTATATACGTATATATACATG TATTATACATACGTAAATGTATATACGTATATATACATGTATTATACATA CGTAAATGTATATACGTATATATACATGTATTATACATACGTAAATGTAT ATACGTATATATACATGTATTATACATACGTAAATGTATATATACATTAT ACATACGTAAATGTATATATACATTATACATACGTAAATGTATAATGTAT ATATACATTATACATACGTAAATGTATATATGTATATATACATTATACAT ACGTAAATGTATATATGTATATATACATTATACATACG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0209 a0001c0001t0044g0209	1	257	0.0039	587	c.-23 others(604): Show c.-23+2835_-23+2836insCGTATGTATAATGTATATATACATATAT ACATTTACGTATGTATAATGTATATATACATATATACATTTACGTATGTA TAATGTATATATACATTATACATTTACGTATGTATAATGTATATATACAT TTACGTATGTATAATGTATATATACATTTACGTATGTATAATACATGTAT ATATACGTATATACATTTACGTATGTATAATACATGTATATATACGTATA TACATTTACGTATGTATAATACATGTATATATACGTATATACATTTACGT ATGTATAATACATGTATATATACGTATATACATTTACGTATGTATAATAC ATGTATATATACGTATATACATTTACGTATGTATAATACATGTATATATA CGTATATACATTTACGTATGTATAATACATGTATATATACGTATATACAT TTACGTATGTATAATACATGTATATATACGTATATACATTTACGTATGTA TAATACATGTATATATACGTATATACATTTACGTATGTATAATACATGTA TATATACGTATATACATTTACGTATGTATAATACATGTATATATACGTAT ATACATTTA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAPPC12_chr2_3374694_3484565	3437768	T T	TCACCCCA others(580): Show TCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACC CCTGGATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCACCCCTGG ATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAAT ACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCC AATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCA CCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCT GGTTTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGAT TAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCAGGATTAATA CCCCATCACCCCTGAATTAATCCCCCCACCACCCCTGGATTAATCCCCCA ATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATGCCCCATCAC CCCTGGATTAATCCCCCAATCACCCCTGGATTAATACCCCCATCACCCCT GGATTAATACCCCATCACCCCTGAATTAATCCCCCCAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0101 a0002c0002t0003g0101	1	247	0.0040	587	c.141 others(606): Show c.1418-6005_1418-6004insAGGATTAATACCCCATCACCCCTGGA TTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAAT CCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCC ATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCAC CCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCA GGATTAATACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTA ATCCCCCCATCACCCCTGGTTTAATCCCCCAATCACCCCTGGATTAATCC CCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCA TCACCCCAGGATTAATACCCCATCACCCCTGAATTAATCCCCCCACCACC CCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTG GATTAATGCCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTA ATACCCCCATCACCCCTGGATTAATACCCCATCACCCCTGAATTAATCCC CCCACCACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAPPC12_chr2_3374694_3484565	3437875	C C	CCCCCCAT others(580): Show CCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCC CATCACCCCTGGATTAATACCCCATCACCCCTGAATTAATCCCCCCACCA CCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCC TGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATT AATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATC CCCCCATCACCCCAGGATTAATACCCCATCACCCCAGGATTAATCCCCCA ATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCAC CCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCAATCACCCCT GGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCAGGATT AATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCC CCCATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAATACCCCAT CACCCCTGGATTAATACCCCATCACCCCTGGATTAATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02976.hp1 HG03041.hp2 others(1): Show HG02451.hp1 HG02976.hp1 HG03041.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0017t0002 a0001c0001t0001 a0001c0017t0002	a0001c0001t0001g0320 a0001c0017t0002g0046 a0001c0017t0002g0047 others(1): Show a0001c0001t0001g0320 a0001c0017t0002g0046 a0001c0017t0002g0047 a0001c0017t0002g0185	4	278	0.0144	587	c.141 others(606): Show c.1418-5900_1418-5899insCATCACCCCTGGATTAATACCCCATC ACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCC TGAATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGA TTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAAT ACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCC AATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCA CCCCAGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCC TGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGAT TAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAAT ACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCC ATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCAC CCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGG ATTAATACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAPPC12_chr2_3374694_3484565	3437875	C C	CCCCCCAT others(580): Show CCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCC CATCACCCCTGGATTAATACCCCATCACCCCTGAATTAATCCCCCCACCA CCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCC TGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATT AATCCCCCCACCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATC CCCCCATCACCCCAGGATTAATACCCCATCACCCCAGGATTAATCCCCCA ATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCAC CCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCAATCACCCCT GGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCAGGATT AATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCC CCCATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAATACCCCAT CACCCCTGGATTAATACCCCATCACCCCTGGATTAATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01192.hp2 HG01256.hp1 others(3): Show HG00140.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01496.hp2 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0205 a0002c0002t0001g0212 others(2): Show a0002c0002t0001g0005 a0002c0002t0001g0205 a0002c0002t0001g0212 a0002c0002t0001g0214 a0002c0002t0001g0215	6	280	0.0214	587	c.141 others(606): Show c.1418-5900_1418-5899insCATCACCCCTGGATTAATACCCCATC ACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCC TGAATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGA TTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAAT ACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCC CATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCA CCCCAGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCC TGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGAT TAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAAT ACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCC ATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCAC CCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGG ATTAATACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAPPC12_chr2_3374694_3484565	3438060	A A	AATCACCC others(580): Show AATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCA CCCCAGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCC TGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGA TTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCAGGATTAAT ACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCC ATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAATACCCCATCAC CCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGG ATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAA TCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACC CCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACC ACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCAATCACCC CTGGATTAATCCCCCCATCAGCCCTGGATTAATACCCC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0283 a0002c0006t0001g0283	1	159	0.0063	587	c.141 others(606): Show c.1418-5657_1418-5656insCCCCCAATCACCCCTGGATTAATCCC CCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCAA TCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACC CCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGG ATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAA TACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCC ATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCAC CCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCA GGATTAATACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTA ATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCC CCCAATCACCCCTGGATTAATCCCCCCATCAGCCCTGGATTAATACCCCA TCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCACC CCAGGATTAAT	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIAP1_chr12_120438964_120451384	120442160	A A	ATTTTTAG others(580): Show ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAGAGGGCAATTATTTGCAATCAAAA TTTAAAACCTTTATTTTGGCCGGGTGTGGTGACTCACACCTGTGATTCCA GCACTTTGGGAGGCCAAGGTGGGCAGATCATGAGGTCAAGGGATCAAGAC CATCCTGGACAACATGGTGAAACCTCATCTCTACTGAAAGTACAAAAATT AGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGGAGGCGGAGGTTGCAG TGAGCTCAGATCGCTCCACTGCACTCCAGCCTGGTGACAGAGGAGACTCC GTCTCAAAAAAAAAAAAAAACTTATTTTTTTTTGAGATGGAGTCTCACTC TGTTGCCCAGGGTACAGTGCAGTGGCATGATCTCAGTTCACTGCAACCTT CTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCAGAATAGCTGGGAC TACAGGCACGTGCCACCACGCTGGGCTAATTTTTTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp2 HG03486.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	268	0.0075	587	c.27 others(598): Show c.2711_*2712insCACAAAAAATTAGCCCAGCGTGGTGGCACGTGCC TGTAGTCCCAGCTATTCTGGAGGCTGAGGCAGGAGAATCGCTTCAACCTG GGAGAAGGTTGCAGTGAACTGAGATCATGCCACTGCACTGTACCCTGGGC AACAGAGTGAGACTCCATCTCAAAAAAAAATAAGTTTTTTTTTTTTTTTG AGACGGAGTCTCCTCTGTCACCAGGCTGGAGTGCAGTGGAGCGATCTGAG CTCACTGCAACCTCCGCCTCCTGGGACTACAGGTGCGTGCCACCACGCCC AGCTAATTTTTGTACTTTCAGTAGAGATGAGGTTTCACCATGTTGTCCAG GATGGTCTTGATCCCTTGACCTCATGATCTGCCCACCTTGGCCTCCCAAA GTGCTGGAATCACAGGTGTGAGTCACCACACCCGGCCAAAATAAAGGTTT TAAATTTTGATTGCAAATAATTGCCCTCTCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAA	TRIAP1	ENSG00000170855.4	transcript	ENST00000546954.2	protein_coding		1803		chr12	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(580): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGGTGATATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0072 a0001c0001t0026g0072	1	98	0.0102	587	c.41- others(604): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGGTGATATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(580): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGGTGATATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0111 a0001c0001t0012g0111	1	98	0.0102	587	c.41- others(604): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGGTGATATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
ULK1_chr12_131889622_131928150	131917159	A A	ACGGGGGT others(580): Show ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGC TCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGG GGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGG TGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTG GGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTC GGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	314	0.0032	587	c.218 others(602): Show c.2182+97_2182+98insCGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGG CTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGG GTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGT GGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGG GGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGA TGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGG GGTCGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
UMODL1_chr21_42066317_42147996	42108877	G G	GCGCGGGA others(580): Show GCGCGGGAAGTTCATGTTGTACTCAGGCTGACCCCCACCCCCGGCGTGGG AAGTTCATGTTATACTCAGGCTGACCCCCACCCCCGCGCGGGAAGTTCAT GTTGTACTCAGCTGGACCCCACCCCCCACGCGGGAAGTTCATGTTATACT CAGGCTGACCCCCACCCCCGGCGTGGGAAGTTCATGTTGTACTCAGCTGG ACCCCACCCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCCCACC CCCAGCGTGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCGCGCG GGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCGCGCGGGAAGTTCA TGTTATACTCAGGCTGACCCCCACCCCCGGCGTGGGAAGTTCATGTTGTA CTCAGCTGGACCCCACCCCCCGCGCGGGAAGTTCATGTTATACTCCGCTG GACCCCACCCCCAGCGTGGGAAGTTCATGTTATACTCCGCTGGACCCCAC CCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCCGCGC GGGAAGTTCATGTTATACTCAGCTGGACCCCACCCCCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp1 HG02602.hp1 others(1): Show HG01069.hp1 HG01243.hp1 HG02602.hp1 HG03491.hp1	a0005 a0025 a0037 others(1): Show a0005 a0025 a0037 a0061	a0005c0155 a0025c0154 a0037c0152 others(1): Show a0005c0155 a0025c0154 a0037c0152 a0061c0153	a0005c0155t0004 a0025c0154t0011 a0037c0152t0002 others(1): Show a0005c0155t0004 a0025c0154t0011 a0037c0152t0002 a0061c0153t0009	a0005c0155t0004g0141 a0025c0154t0011g0134 a0037c0152t0002g0054 others(1): Show a0005c0155t0004g0141 a0025c0154t0011g0134 a0037c0152t0002g0054 a0061c0153t0009g0019	4	261	0.0153	587	c.152 others(604): Show c.1520-685_1520-684insCGCGGGAAGTTCATGTTGTACTCAGGCT GACCCCCACCCCCGGCGTGGGAAGTTCATGTTATACTCAGGCTGACCCCC ACCCCCGCGCGGGAAGTTCATGTTGTACTCAGCTGGACCCCACCCCCCAC GCGGGAAGTTCATGTTATACTCAGGCTGACCCCCACCCCCGGCGTGGGAA GTTCATGTTGTACTCAGCTGGACCCCACCCCCCGCGCGGGAAGTTCATGT TATACTCCGCTGGACCCCACCCCCAGCGTGGGAAGTTCATGTTATACTCC GCTGGACCCCACCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCC CACCCCCGCGCGGGAAGTTCATGTTATACTCAGGCTGACCCCCACCCCCG GCGTGGGAAGTTCATGTTGTACTCAGCTGGACCCCACCCCCCGCGCGGGA AGTTCATGTTATACTCCGCTGGACCCCACCCCCAGCGTGGGAAGTTCATG TTATACTCCGCTGGACCCCACCCCCGCGCGGGAAGTTCATGTTATACTCC GCTGGACCCCACCCCCCGCGCGGGAAGTTCATGTTATACTCAGCTGGACC CCACCCCCC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	9/22			chr21	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(580): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0184 a0004c0005t0002g0184	1	25	0.0400	587	c.483 others(602): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCC TCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
YBEY_chr21_46281342_46302751	46293348	G G	GGGACTCA others(580): Show GGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGG GACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA AACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	400	0.0025	587	c.339 others(604): Show c.339+1897_339+1898insGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAG TTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGG ACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294398	A A	ACAGCCAC others(580): Show ACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTC AGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC ATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCC CGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	287	0.0035	587	c.340 others(604): Show c.340-1757_340-1756insGCAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGG GACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAA CTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGA GTCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(580): Show CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCTCCTTCCCCCCTT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA19070.hp2 NA18961.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	2	183	0.0109	587	c.-10 others(604): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCGTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCTCCTTCCCCCCTTCCCCCT TCCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(580): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGG GAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGGAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGA GGGAGGGAGGGAAGGGAGGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAA AGAGGGAGGGAGGGAAGGGAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAG GGTGGGATGAAGGAAATGGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03942.hp1 HG03834.hp2 HG03942.hp1	a0002 a0003 a0002 a0003	a0002c0007 a0003c0010 a0002c0007 a0003c0010	a0002c0007t0002 a0003c0010t0002 a0002c0007t0002 a0003c0010t0002	a0002c0007t0002g0241 a0003c0010t0002g0251 a0002c0007t0002g0241 a0003c0010t0002g0251	2	73	0.0274	587	c.205 others(606): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCCTC CCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCC TCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCT CCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCC TCCCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTC CCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCC TCCCCTCCCTTCCCTTCCCTCACTCCCTCCCTCCTCTCCCTTCCCTTTCC TCCCTCCCTCCTTCCTCTCACTTCCCTTTTCTCCCTCCCTCCCTCCCCTC CCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATATATAT others(580): Show ATATATATCATATATGTGATATATATCACATATGTGATATATATCATATC ACATATCATATGACATATCATATCACATATCACATATCACATATCACATA TCACATATCATATGATATATATCACATGTGATATATAGCATATGTGATAT ATATCATATATATCACATGTGATATATAGCATATGTGATATATATCATAT ATATCACATATGATATATAGCATATGTGATATATATCATATATATCACAT ATGCTATATAGCATATGTGATATATATCATATATATCACATATGCTATAT AGCATACGTGATATATATCATATATATCATATATGATGTATAGCATGATA TATATGCTATATATCACATGTGATATATAGCATATATATCACATGTGATA TATAGCATATATATCACATGTGATATATAGCATATATATCACATGTGATA TATAGCATATATATCACATGTGATATATAGCATATGTGATATATATGATA TATGTGATATATATCATATGTGATATATATGATATATATCACATATATAT GATATATATCACATATATATCATATATATCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	243	0.0041	587	c.-34 others(598): Show c.-3475_-3474insTATATATCATATATGTGATATATATCACATATGT GATATATATCATATCACATATCATATGACATATCATATCACATATCACAT ATCACATATCACATATCACATATCATATGATATATATCACATGTGATATA TAGCATATGTGATATATATCATATATATCACATGTGATATATAGCATATG TGATATATATCATATATATCACATATGATATATAGCATATGTGATATATA TCATATATATCACATATGCTATATAGCATATGTGATATATATCATATATA TCACATATGCTATATAGCATACGTGATATATATCATATATATCATATATG ATGTATAGCATGATATATATGCTATATATCACATGTGATATATAGCATAT ATATCACATGTGATATATAGCATATATATCACATGTGATATATAGCATAT ATATCACATGTGATATATAGCATATATATCACATGTGATATATAGCATAT GTGATATATATGATATATGTGATATATATCATATGTGATATATATGATAT ATATCACATATATATGATATATATCACATATATATCATATATATCATATA TAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838925	A A	ACCTCCCG others(581): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGGGCGGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCT GGACGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CTCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGGCAGACCCCCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0031 a0001c0002t0011g0031	1	238	0.0042	588	c.361 others(607): Show c.3614+2662_3614+2663insAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGAC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGGCAGACCCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838925	A A	ACCTCCCG others(581): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTG GACGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC TCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGGCAGACCCCCCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0126 a0001c0002t0003g0126	1	238	0.0042	588	c.361 others(607): Show c.3614+2662_3614+2663insAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGACG GGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGGCAGACCCCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838925	A A	ACCTCCCG others(581): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTG GACGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC TCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGGCAGACCCCCCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01261.hp2 NA19004.hp1 others(1): Show HG00597.hp2 HG01261.hp2 NA19004.hp1 NA20300.hp1	a0001 a0013 a0001 a0013	a0001c0002 a0013c0034 a0001c0002 a0013c0034	a0001c0002t0002 a0001c0002t0003 a0013c0034t0002 a0001c0002t0002 a0001c0002t0003 a0013c0034t0002	a0001c0002t0002g0093 a0001c0002t0003g0051 a0001c0002t0003g0064 others(1): Show a0001c0002t0002g0093 a0001c0002t0003g0051 a0001c0002t0003g0064 a0013c0034t0002g0044	4	241	0.0166	588	c.361 others(607): Show c.3614+2662_3614+2663insAGGGGGGCCGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGACG GGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGGCAGACCCCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111144	T T	TCTCCTAA others(581): Show TCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAA TCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCA GACCACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACCACCT GCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCA CGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACC TCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCT AATCCCACCAGACCACCTGCCCACCACGGACACCTCCCTCCTAATCCCAC CAGACCACCTGCCCGCCGTGAGCACCTCCCTCCTAATCCCTCCAGACCAC CTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCAC CACGGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCGCCGTGAGCA CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTC CTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0259 a0002c0005t0005g0259	1	294	0.0034	588	c.401 others(605): Show c.401+8329_401+8330insACCACAGGCACCTCCCTCCTAATCCCTC CAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCAC CTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCAC CACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCA CCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACC ACCTGCCCGCCGTGAGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGA CACCTCCCTCCTAATCCCACCAGACCACCTGCCCGCCGTGAGCACCTCCC TCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATC CCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGA CCACCTGCCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111144	T T	TCTCCTAA others(581): Show TCTCCTAATCCCACCAGACCACCTGCCCCCCCGGGAACCACCCCTCCTAA TCCCACCAGACAACCTGCCCGCCATGAGCACCTCCCTCCTAATGCCTCCA GACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCT GCCCCCCCGGGAACCATCCCTCCTAATCCCACCAGACCACCTGCCCACCA CGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACC TCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCT AATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCAC CAGACCACCTGCCCGCCGTGAGCACCTCCCTCCTAATCCCTCCAGACCAC CTGCCCGCCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCAC CACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACA CCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0298 a0001c0001t0003g0298	1	294	0.0034	588	c.401 others(605): Show c.401+8329_401+8330insCCCCGGGAACCACCCCTCCTAATCCCAC CAGACAACCTGCCCGCCATGAGCACCTCCCTCCTAATGCCTCCAGACCAC CTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCCC CCGGGAACCATCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGACA CCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTC CTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCGCCGTGAGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCC GCCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGA CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCC TCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATC CCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGA CCACCTGCCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111618	A A	ACCAGACC others(581): Show ACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACA ACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCC ACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGA CACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCC TCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATC CCTCCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCTCCAGA CCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGC CCACCACGGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACG GGCACCTCCCTCCTAATGCCTCCAGACAACCTGCCCACCACGGGCACCTC CCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAA TCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCA GACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	267	0.0037	588	c.401 others(605): Show c.401+8782_401+8783insCACCTGCCCACCACAGGCACCTCCCTCC TAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCT CCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCA CCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCA CCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGC ACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGACACCTCCCT CCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCC CTCCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCTCCAGAC AACCTGCCCACCACGGGCACCTCCCTCCTAATGCCTCCAGACAACCTGCC CACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGG GCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTCC CTCCTAATCCCTCCAGACAACCTGCCCACCACGGACACCTCCCTCCTAAT CCCTCCAGAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111625	A A	AACCTGCC others(581): Show AACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCC CACCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCGCCACGG GCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCC CTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAAT GCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC AGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCT CCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACC TGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0036 a0001c0006t0036	a0001c0006t0036g0124 a0001c0006t0036g0124	1	233	0.0043	588	c.401 others(605): Show c.401+8798_401+8799insGCACCTCCCTCCTAATCCCTCCAGACCA CCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCG CCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGAC ACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCT CCTAATGCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCC CTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGAC CACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCC CACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG GCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACGG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111751	A A	AACCTGCC others(581): Show AACCTGCCCACCACGGACACCTCCCTCCTAATCCCTCCAGACCACCTGCC CACCACGGGCACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCACAG GCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACAGGTACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCAC AGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACGGACACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACC TGCCCGCCGTGAGCACCTCCCTCCTAATCCCTCCAGACC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0273 a0001c0001t0053g0273	1	216	0.0046	588	c.401 others(605): Show c.401+8917_401+8918insACCACGGACACCTCCCTCCTAATCCCTC CAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATGCCTCCAGACCAC CTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCAC CACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGTA CCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACGGACACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACC ACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGG CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGACACCTCCC TCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATC CCTCCAGACAACCTGCCCGCCGTGAGCACCTCCCTCCTAATCCCTCCAGA CCACCTGCCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results