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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RPH3AL_chr17_207389_357807	314723	C C	CTGACCTG others(1202): Show CTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACCTGCAGTCTCTGTAC TCCACGTCCATTGACCTGTAGTCCCTGTGACTTCACCTCCATTGACCTGT AGTCCCTGTGCTCCACCTCCATTGACCTGTAGTCTCTGTGACCCCACCTC CATTGACCTGTAGTCCCTGTACTCCACGTCCATTGACCTGCAGTCTCTGT GCTCCACCTCCATTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACCTG TAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTACTCCACGTC CATTGACCTGTAGTCTCTCTGCTCCACCTCCATTGACCTGTAGTCCCTGT GACTCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCT GTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCTCTGTGACCCCACC TCCATTGACCTGTAGTCCCTGTACTCCACGTCCATTGACCTGTAGTCTCT GTGCCCCACCTCCATTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACC TGTAGTCTCTGTGCTCCACCTCCATTGACCAGTAGTCCCTGTGCCCCACC TCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCT GTGCCCCACCTCCATTGACCTGCAGTCTCTGTACTCCATGTCCATTGACC TGTAGTCCCTGTGACTCCACCTCCATTGAACTGTAGTCCCTGTGCCCCAC CTCCATTGACCTGTAGTCCCTGTGACTCCACCTCCATTGACCTGTAGTCT CTGTGCTCCACCTCCACTGACCTGTAGTCCCTGTGCCCCACCTCCATTGA CCTGCAGTCTCTGTACTCCACGTCCATTGACCTGTAGTCCCTGTGACTTC ACCTCCATTGACCTGTAGTCCCTGTGCTCCACCTCCATTGACCTGTAGTC TCTGTGACCCCACCTCCATTGGCCTGTAGTCCCTGTACTCCATGTCCATT GACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTGCCC CACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGT CCCTGTACTCCACGTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATT GACCTGTAGTCCCTGTGACTCCACCTCCATTGACCTGTAGTCTCTGTGCT CCACCTCCAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0064 a0001c0003t0036g0064	1	133	0.0075	1209	c.351 others(1226): Show c.351+4696_351+4697insATGGAGGTGGAGCACAGAGACTACAGGT CAATGGAGGTGGAGTCACAGGGACTACAGGTCAATGGAGGTGGAGCACAG AGACTACAGGTCAATGGACGTGGAGTACAGGGACTACAGGTCAATGGAGG TGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTACAGG TCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGACATGGAGTACAG GGACTACAGGCCAATGGAGGTGGGGTCACAGAGACTACAGGTCAATGGAG GTGGAGCACAGGGACTACAGGTCAATGGAGGTGAAGTCACAGGGACTACA GGTCAATGGACGTGGAGTACAGAGACTGCAGGTCAATGGAGGTGGGGCAC AGGGACTACAGGTCAGTGGAGGTGGAGCACAGAGACTACAGGTCAATGGA GGTGGAGTCACAGGGACTACAGGTCAATGGAGGTGGGGCACAGGGACTAC AGTTCAATGGAGGTGGAGTCACAGGGACTACAGGTCAATGGACATGGAGT ACAGAGACTGCAGGTCAATGGAGGTGGGGCACAGGGACTACAGGTCAATG GAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTA CTGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGC ACAGGGACTACAGGTCAATGGAGGTGGGGCACAGAGACTACAGGTCAATG GACGTGGAGTACAGGGACTACAGGTCAATGGAGGTGGGGTCACAGAGACT ACAGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGAG CACAGAGACTACAGGTCAATGGAGGTGGAGTCACAGGGACTACAGGTCAA TGGAGGTGGAGCAGAGAGACTACAGGTCAATGGACGTGGAGTACAGGGAC TACAGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGG GCACAGGGACTACAGGTCAATGGAGGTGGAGCACAGAGACTGCAGGTCAA TGGACGTGGAGTACAGGGACTACAGGTCAATGGAGGTGGGGTCACAGAGA CTACAGGTCAATGGAGGTGGAGCACAGGGACTACAGGTCAATGGAGGTGA AGTCACAGGGACTACAGGTCAATGGACGTGGAGTACAGAGACTGCAGGTC AATGGAGGTGGGGCACAGGGACTACAGGTCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	314723	C C	CTGACCTG others(1202): Show CTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACCTGCAGTCTCTGTAC TCCACGTCCATTGACCTGTAGTCCCTGTGACTTCACCTCCATTGACCTGT AGTCCCTGTGCTCCACCTCCATTGACCTGTAGTCTCTGTGACCCCACCTC CATTGACCTGTAGTCCCTGTACTCCACGTCCATTGACCTGCAGTCTCTGT GCTCCACCTCCATTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACCTG TAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTACTCCACGTC CATTGACCTGTAGTCTCTCTGCTCCACCTCCATTGACCTGTAGTCCCTGT GACTCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCT GTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCTCTGTGACCCCACC TCCATTGACCTGTAGTCCCTGTACTCCACGTCCATTGACCTGTAGTCTCT GTGCCCCACCTCCATTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACC TGTAGTCTCTGTGCTCCACCTCCATTGACCAGTAGTCCCTGTGCCCCACC TCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCT GTGCCCCACCTCCATTGACCTGCAGTCTCTGTACTCCATGTCCATTGACC TGTAGTCCCTGTGACTCCACCTCCATTGAACTGTAGTCCCTGTGCCCCAC CTCCATTGACCTGTAGTCCCTGTGACTCCACTTCCATTGACCTGTAGTCT CTGTGCTCCACCTCCACTGACCTGTAGTCCCTGTGCCCCACCTCCATTGA CCTGCAGTCTCTGTACTCCACGTCCATTGACCTGTAGTCCCTGTGACTTC ACCTCCATTGACCTGTAGTCCCTGTGCTCCACCTCCATTGACCTGTAGTC TCTGTGACCCCACCTCCATTGGCCTGTAGTCCCTGTACTCCACGTCCATT GACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTGCCC CACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGT CCCTGTACTCCACGTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATT GACCTGTAGTCCCTGTGACTCCACCTCCATTGACCTGTAGTCTCTGTGCT CCACCTCCAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03516.hp1 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0043 a0001c0001t0003g0101 a0001c0001t0001g0043 a0001c0001t0003g0101	2	133	0.0150	1209	c.351 others(1226): Show c.351+4696_351+4697insATGGAGGTGGAGCACAGAGACTACAGGT CAATGGAGGTGGAGTCACAGGGACTACAGGTCAATGGAGGTGGAGCACAG AGACTACAGGTCAATGGACGTGGAGTACAGGGACTACAGGTCAATGGAGG TGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTACAGG TCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGACGTGGAGTACAG GGACTACAGGCCAATGGAGGTGGGGTCACAGAGACTACAGGTCAATGGAG GTGGAGCACAGGGACTACAGGTCAATGGAGGTGAAGTCACAGGGACTACA GGTCAATGGACGTGGAGTACAGAGACTGCAGGTCAATGGAGGTGGGGCAC AGGGACTACAGGTCAGTGGAGGTGGAGCACAGAGACTACAGGTCAATGGA AGTGGAGTCACAGGGACTACAGGTCAATGGAGGTGGGGCACAGGGACTAC AGTTCAATGGAGGTGGAGTCACAGGGACTACAGGTCAATGGACATGGAGT ACAGAGACTGCAGGTCAATGGAGGTGGGGCACAGGGACTACAGGTCAATG GAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTA CTGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGC ACAGGGACTACAGGTCAATGGAGGTGGGGCACAGAGACTACAGGTCAATG GACGTGGAGTACAGGGACTACAGGTCAATGGAGGTGGGGTCACAGAGACT ACAGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGAG CACAGAGACTACAGGTCAATGGAGGTGGAGTCACAGGGACTACAGGTCAA TGGAGGTGGAGCAGAGAGACTACAGGTCAATGGACGTGGAGTACAGGGAC TACAGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGG GCACAGGGACTACAGGTCAATGGAGGTGGAGCACAGAGACTGCAGGTCAA TGGACGTGGAGTACAGGGACTACAGGTCAATGGAGGTGGGGTCACAGAGA CTACAGGTCAATGGAGGTGGAGCACAGGGACTACAGGTCAATGGAGGTGA AGTCACAGGGACTACAGGTCAATGGACGTGGAGTACAGAGACTGCAGGTC AATGGAGGTGGGGCACAGGGACTACAGGTCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	314723	C C	CTGACCTG others(1202): Show CTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACCTGCAGTCTCTGTAC TCCACGTCCATTGACCTGTAGTCCCTGTGACTTCACCTCCATTGACCTGT AGTCCCTGTGCTCCACCTCCATTGACCTGTAGTCTCTGTGACCCCACCTC CATTGACCTGTAGTCCCTGTACTCCACGTCCATTGACCTGCAGTCTCTGT GCTCCACCTCCATTGAGCTGTAGTCCCTGTGCCCCACCTCCATTGACCTG TAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTACTCCACGTC CATTGACCTGTAGTCTCTCTGCTCCACCTCCATTGACCTGTAGTCCCTGT GACTCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCT GTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCTCTGTGACCCCACC TCCATTGACCTGTAGTCCCTGTACTCCACGTCCATTGACCTGTACTCTCT GTGCCCCACCTCCATTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACC TGTAGTCTCTGTGCTCCACCTCCATTGACCAGTAGTCCCTGTGCCCCACC TCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCT GTGCCCCACCTCCATTGACCTGCAGTCTCTGTACTCCATGTCCATTGACC TGTAGTCCCTGTGACTCCACCTCCATTGAACTGTAGTCCCTGTGCCCCAC CTCCATTGACCTGTAGTCCCTGTGACTCCACCTCCATTGACCTGTAGTCT CTGTGCTCCACCTCCACTGACCTGTAGTCCCTGTGCCCCACCTCCATTGA CCTGCAGTCTCTGTACTCCACGTCCATTGACCTGTAGTCCCTGTGACTTC ACCTCCATTGACCTGTAGTCCCTGTGCTCCACCTCCATTGACCTGTAGTC TCTGTGACCCCACCTCCATTGGCCTGTAGTCCCTGTACTCCACGTCCATT GACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTGCCC CACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGT CCCTGTACTCCACGTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATT GACCTGTAGTCCCTGCGACTCCACCTCCATTGACCTGTAGTCTCTGTGCT CCACCTCCAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01192.hp1 HG01258.hp1 others(7): Show HG00408.hp2 HG01192.hp1 HG01258.hp1 HG01361.hp2 HG01943.hp1 HG01943.hp2 HG02074.hp1 HG02148.hp2 NA18993.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0006t0004	a0001c0001t0001g0047 a0001c0001t0001g0080 a0001c0001t0002g0061 others(7): Show a0001c0001t0001g0047 a0001c0001t0001g0080 a0001c0001t0002g0061 a0001c0001t0004g0008 a0001c0001t0004g0096 a0001c0001t0004g0121 a0001c0001t0011g0007 a0001c0001t0013g0055 a0001c0001t0013g0107 a0001c0006t0004g0022	10	133	0.0752	1209	c.351 others(1226): Show c.351+4696_351+4697insATGGAGGTGGAGCACAGAGACTACAGGT CAATGGAGGTGGAGTCGCAGGGACTACAGGTCAATGGAGGTGGAGCACAG AGACTACAGGTCAATGGACGTGGAGTACAGGGACTACAGGTCAATGGAGG TGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTACAGG TCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGACGTGGAGTACAG GGACTACAGGCCAATGGAGGTGGGGTCACAGAGACTACAGGTCAATGGAG GTGGAGCACAGGGACTACAGGTCAATGGAGGTGAAGTCACAGGGACTACA GGTCAATGGACGTGGAGTACAGAGACTGCAGGTCAATGGAGGTGGGGCAC AGGGACTACAGGTCAGTGGAGGTGGAGCACAGAGACTACAGGTCAATGGA GGTGGAGTCACAGGGACTACAGGTCAATGGAGGTGGGGCACAGGGACTAC AGTTCAATGGAGGTGGAGTCACAGGGACTACAGGTCAATGGACATGGAGT ACAGAGACTGCAGGTCAATGGAGGTGGGGCACAGGGACTACAGGTCAATG GAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTA CTGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGC ACAGGGACTACAGGTCAATGGAGGTGGGGCACAGAGAGTACAGGTCAATG GACGTGGAGTACAGGGACTACAGGTCAATGGAGGTGGGGTCACAGAGACT ACAGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGAG CACAGAGACTACAGGTCAATGGAGGTGGAGTCACAGGGACTACAGGTCAA TGGAGGTGGAGCAGAGAGACTACAGGTCAATGGACGTGGAGTACAGGGAC TACAGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGG GCACAGGGACTACAGCTCAATGGAGGTGGAGCACAGAGACTGCAGGTCAA TGGACGTGGAGTACAGGGACTACAGGTCAATGGAGGTGGGGTCACAGAGA CTACAGGTCAATGGAGGTGGAGCACAGGGACTACAGGTCAATGGAGGTGA AGTCACAGGGACTACAGGTCAATGGACGTGGAGTACAGAGACTGCAGGTC AATGGAGGTGGGGCACAGGGACTACAGGTCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	355823	A A	AACAGTCG others(1202): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCG CACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACA CTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGC CTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCG ACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCA CACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCAC AGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCA CAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGC GCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACAC ACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCG CCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGC GACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACC ACACACACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	133	0.0075	1209	c.-33 others(1220): Show c.-3325_-3324insGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCG CCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGC GACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTG TGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCG CGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGT GGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTG TGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGT GGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTC GCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGG CGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGT GTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGC GCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTG TGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACT GTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTG TGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGT CGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAG GCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTG TGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTG CGCGGTCGCCTGTGGAGGCGACTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3017		chr17	TogoVar
SEL1L2_chr20_13844247_13995614	13934446	C C	CATATATA others(1202): Show CATATATATATATATTCCATATATATATTCCATATATATATATATTCCAT ATATATATATTCCATATATATATTCCATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATTCCATATATATATATATTCCATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATTCCATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATTCCATATATATATATATTCCATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATTCCATATATATTCCATATATATATT CCATATATATATTCCATATATATATATATTCCATATATATATTCCATATA TATATTCCAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	324	0.0031	1209	c.115 others(1226): Show c.115-2676_115-2675insATGGAATATATATATGGAATATATATAT GGAATATATATATATATGGAATATATATATGGAATATATATATGGAATAT ATATGGAATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATATGGAATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATGGAATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATGGAATATATATAT ATATGGAATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SPEF2_chr5_35612863_35819611	35714092	A A	ATATATTA others(1202): Show ATATATTATATATTTTATATATAGTATATATAGTATATATATTATATATT TTATATATTTTATATATAGTATATATATTATATATTTTATATATAGTATA TATAGTATATATATTATATATTTTATATATAGTATATATATTATATATAT TATATATTTTATATATAGTATATATATTATATATATTATATATTTTATAT ATAGTATATATATTACATATATATTATATATTTTATATATAGTATATATA TTACATATAGTATTATATATTTTTTATATAGTATATATATTACATATAGT ATTATATATTTTATATATAGTATATATATTACATATAGTATTATATATTT TATATATAGTATATATATTACGTATAGTATTATATATTTTATATATAGTA TATATATTACGTATAGTATTATATATTTTATATATAGTATATATATTACG TATAGTATTATATATTTTATATATAGTATATATATTACGTATAGTATTAT ATATTTTATATATAGTATATATATTACGTATAGTATTATATATTTTATAT ATAGTATATATATTACGTATAGTATTATATATTTTATATATAGTATATAT ATTACGTATAGTATTATATATTTTATATATAGTATATATATTACGTATAG TATATATTTTATATATAGTATATATATTACGTATAGTATATATTTTATAT ATAGTATATATATTACGTATAGTATATATTTTATATATAGTATATAGATT ACGTATAGTATATATTTTATATATAGTATATAGATTACGTATAGTATATA TTTTATATATAGTATATAGATTACGTATAGTATATATTTTATATATAGTA TATAGATTACGTATAGTATATATTTTATATATAGTATATAGATTACGTAT AGTATATATTTTATATATAGTATATAGATTACGTATAGTATATATTTTAT ATATAGTATATAGATTACGTATAGTATATATTTTATATATAGTAATAGAT TATGTATAGTATATATTTTATATATAGTATATAGATTATGTATAGTATAT ATTTTATATATAGTATATAGATTATATATAGTATATATTTTATATATACT ATATATTATATATAGTATATATTTTATATATACTATATATATTATATATA GTATGTATTTTATATATACTATATATATTATATATAGTATTATATATTTT ATATATATGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0216 a0004c0005t0001g0216	1	268	0.0037	1209	c.291 others(1228): Show c.2914+1206_2914+1207insTATATTATATATTTTATATATAGTAT ATATAGTATATATATTATATATTTTATATATTTTATATATAGTATATATA TTATATATTTTATATATAGTATATATAGTATATATATTATATATTTTATA TATAGTATATATATTATATATATTATATATTTTATATATAGTATATATAT TATATATATTATATATTTTATATATAGTATATATATTACATATATATTAT ATATTTTATATATAGTATATATATTACATATAGTATTATATATTTTTTAT ATAGTATATATATTACATATAGTATTATATATTTTATATATAGTATATAT ATTACATATAGTATTATATATTTTATATATAGTATATATATTACGTATAG TATTATATATTTTATATATAGTATATATATTACGTATAGTATTATATATT TTATATATAGTATATATATTACGTATAGTATTATATATTTTATATATAGT ATATATATTACGTATAGTATTATATATTTTATATATAGTATATATATTAC GTATAGTATTATATATTTTATATATAGTATATATATTACGTATAGTATTA TATATTTTATATATAGTATATATATTACGTATAGTATTATATATTTTATA TATAGTATATATATTACGTATAGTATATATTTTATATATAGTATATATAT TACGTATAGTATATATTTTATATATAGTATATATATTACGTATAGTATAT ATTTTATATATAGTATATAGATTACGTATAGTATATATTTTATATATAGT ATATAGATTACGTATAGTATATATTTTATATATAGTATATAGATTACGTA TAGTATATATTTTATATATAGTATATAGATTACGTATAGTATATATTTTA TATATAGTATATAGATTACGTATAGTATATATTTTATATATAGTATATAG ATTACGTATAGTATATATTTTATATATAGTATATAGATTACGTATAGTAT ATATTTTATATATAGTAATAGATTATGTATAGTATATATTTTATATATAG TATATAGATTATGTATAGTATATATTTTATATATAGTATATAGATTATAT ATAGTATATATTTTATATATACTATATATTATATATAGTATATATTTTAT ATATACTATATATATTATATATAGTATGTATTTTATATATACTATATATA TTATATATAGTATTATATATTTTATATATATGT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36			chr5	TogoVar
SPIRE2_chr16_89823475_89876319	89852489	C C	CACCCCCC others(1202): Show CACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCAGA TCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCC ATCTTCCATCCTCCCCCCACCCCCCGGATCCCACGGCCCATCTTCCATCC TCCCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCC CCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCA TGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTT CCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCC CCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCCCCAG ATCCCATGGCCCATCTTCCATCCTCCCCCAACCCCCCAGATCCCCTGGCC CATCTTCCATCCTCCCCCCACCCACCAGATTCCATGGCCCATCTTCCATC CTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACC CCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCC ATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCT TCCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCTC CCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCAACCCCCCA GATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCACCAGATTCCATGGC CCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCAT CCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCAC CCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCC CATGGCCCATCTTCCATCCTCTCCCCACCCCCCAGATCCCATGGCCCATC TTCCATCCTCCCCCAACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCC CCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCCCC AGATCCCATGGCCCATCTTCCATCCTCCCCCAACCCCCCAGATCCCCTGG CCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCA TCCTCCCCCA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	356	0.0028	1209	c.646 others(1226): Show c.646-1783_646-1782insCTGGCCCATCTTCCATCCTCCCCCCACC CCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCC ATGGCCCATCTTCCATCCTCCCCCCACCCCCCGGATCCCACGGCCCATCT TCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCC CCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCA GATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGC CCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTTCCAT CCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCAC CCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCAACCCCCCAGATCC CCTGGCCCATCTTCCATCCTCCCCCCACCCACCAGATTCCATGGCCCATC TTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCC CCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACC AGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGG CCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTTCCA TCCTCTCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCAA CCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCACCAGATT CCATGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCAT CTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTC TCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCC CAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCCCCAGATCCCATG GCCCATCTTCCATCCTCCCCCAACCCCCCAGATCCCCTGGCCCATCTTCC ATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCC ACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCAACCCCCCAGAT CCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCA TCTTCCATCCTCCCCCAACCCCCCAGATCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SULT6B1_chr2_37162820_37193670	37166500	C C	CCCTCCCT others(1202): Show CCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCT CCCCTCCTTCCTCCCTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCC TTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTC CCTTCCTCCCTCCCTCCCCTCCCCTTCCTCCCTCCCTCCCTCCCTTCCTT CTTCCCTCCCTCCCTCCCTCCCTTCCTCCTTCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCC TCCCTCCCTCCTCCCTCCCTCCCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCTCTCCCTCCCTTCCTCC CTCCCTCCTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCTCCCTCCCTCCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCC CTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTCCCTTCCTCTCT CCCTCCCTCCCTCCCTCCCTTCCTTCCTCCTCCCTTCCTTCCTCCCTCCC TCCCTCCCTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCTCCTCCCTCCCT CCCTTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCT CCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCT CCCTCCCTCCCTCCCTTCCTCCTCCCTTCCTTCCTCCCTCCCTCCCTCCC TTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTT CCTTCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0115 a0009c0011t0001g0115	1	354	0.0028	1209	c.14 others(1220): Show c.1434_*1435insAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGAA GGAAGGGAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGG AAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGAA GGGAGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGG AGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAG GAAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGG AGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAG GAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGAGAAGGAAGGGAG GGAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGAG GAAGGAAGGGAGGGAGGGAGGGAGGGAGAGAGGAAGGGAGGAAGGGAGGG AGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGAAG GAAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGA AGGAAGGGAGGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGGAGGGAG GAAGGGAGGGAGGGAGGAGGAGGGAGGGAGGAAGGGAGGGAGAGAGGGAG GAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGG AGGGGGAGGGAGGGAGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGGAG GAAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAG GAAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGA GGAAGGGAGGGAGGGAGGGAGGGAAGAAGGAAGGGAGGGAGGGAGGGAGG AAGGGGAGGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGG AAGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGAA GGGAGGGAGGAGGGAGGAAGGAGGGGAGGGAGGAAGGAAGGAAGGGAGGG AGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAG GGAGGAAGGAAGGAAGGAAGGGAGG	SULT6B1	ENSG00000138068.12	transcript	ENST00000535679.6	protein_coding		1319		chr2	TogoVar
SYT9_chr11_7246904_7474043	7414655	G G	GGAGAGGT others(1202): Show GGAGAGGTCATTTATTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAA GTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACAT GTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTA TATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCC AGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTC CCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAG TTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATA TGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGC CACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCA AGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGT CTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGG ATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCA CACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTA AAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGAC TTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGT TTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGT GTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCC TTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTT GAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTG CAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTT TCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAAT TTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGC CCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTT ATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTC AATAGATGCA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03209.hp1 NA20129.hp2 HG03139.hp2 HG03209.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0004 a0001c0003t0003 a0001c0010t0007 a0001c0001t0004 a0001c0003t0003 a0001c0010t0007	a0001c0001t0004g0039 a0001c0003t0003g0232 a0001c0010t0007g0175 a0001c0001t0004g0039 a0001c0003t0003g0232 a0001c0010t0007g0175	3	272	0.0110	1209	c.104 others(1228): Show c.1045-1371_1045-1370insTTTTTTTTTTTTTTTTTTTTTATTAT ACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATG TATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCA TTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCAC AGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGT TCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTT GCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACA AAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTA TATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTT GGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTG CATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAG TAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGA ATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAA CAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTT TCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCA TAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTC TTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTT CATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAA TTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAG TAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGAT GGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATT TGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAG TCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAG GGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCTTGAAT TGATTTCAATAGATGCAGAGAGGTCATTTATTT	SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
TCERG1L_chr10_131087391_131316721	131176845	C C	CACACAAA others(1202): Show CACACAAAGAGACACGTGCACACACACCAAAACACATGCACACACAGAGA GACACAGGCACACACACCAAGACATGTGTACACAGACACATGCACACAGA GACACGTGCACACACAGACATGTGTACACACACAGTGTACACACACAGAG ATAGGAACACACAGAGACACGTGCACACACACCAAAACACATGCACACAC AGACACATTCACACACACCAAGATACATGCACACAGACACATGAACACAC ACCAAGACACGTGTACACATAGACACATGCACACACAGATACGTGTATAC ACAGACACATGCACACACACAGACATGTATACATACACAGAGACACATAC ACACACAGACGCATGTACTCACAGAGACACATGCACACACAGACACGTGT ACAGAGATATGCACACACACAGACACGTGTACACACACCAAGAAACATGC ACACACAGAGACACATGCACACACAAACATGTGTACACCCACAGAGATAG GCACAAAGAGGCACGTGCACACACACCAAAACACATGCACACACACAGAG ACACATGCACACACCATGACATGTGTACATACACCAAGACACATGTACAC ACAGAGATACGTGTACACACACCAAGAAACATGCACACACAGACACGTGT ACACCCACAGAGATAGGCACATACAAAGAGGCACGTGCACACACACCAAA ACACATGCACACACACAGAGACACGTGCACACACACCACGACATGTGCAC ATACACCAAGACACATGTACACACAGAGATACGTGTACACACACCAAGAA ACATGCACACACAGACACGTGTACACACACCAAGAAACATGCACACACAG AGACACATGCACACACAAACACGTGTACACCCACAGAGATAGGCACATAC AAAAAGGCACGTGCACACACACCAAAACACATGCACACACACAGACACGT GCACACACACCAAGACATGTGCACATACACCAAGACACATGTATACACAG AGATACACGTACACACACAGAGACACATGCACACACAGACATGTGTACAC ACAGAGAGATAGGCACACACAAAGAGACACGTGCACACACACCAAAACAC ATGCACACACAGAGAGACACAGGCACACACACCGTGTACACAGACACATG CACACAGAGACACGTGCACACACAGACATGTGTACACACACAGAGTGTAC ACACACAGAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02135.hp1 NA18946.hp2 others(9): Show HG00423.hp1 HG02135.hp1 NA18946.hp2 NA18950.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18971.hp2 NA18975.hp2 NA18979.hp2 NA19009.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0006	a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0074 others(9): Show a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0074 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0006g0071 a0001c0002t0001g0158 a0001c0002t0003g0135 a0001c0003t0001g0010 a0001c0003t0006g0013	12	324	0.0370	1209	c.857 others(1226): Show c.857-9961_857-9960insCTCTGTGTGTGTACACTCTGTGTGTGTA CACATGTCTGTGTGTGCACGTGTCTCTGTGTGCATGTGTCTGTGTACACG GTGTGTGTGCCTGTGTCTCTCTGTGTGTGCATGTGTTTTGGTGTGTGTGC ACGTGTCTCTTTGTGTGTGCCTATCTCTCTGTGTGTACACATGTCTGTGT GTGCATGTGTCTCTGTGTGTGTACGTGTATCTCTGTGTATACATGTGTCT TGGTGTATGTGCACATGTCTTGGTGTGTGTGCACGTGTCTGTGTGTGTGC ATGTGTTTTGGTGTGTGTGCACGTGCCTTTTTGTATGTGCCTATCTCTGT GGGTGTACACGTGTTTGTGTGTGCATGTGTCTCTGTGTGTGCATGTTTCT TGGTGTGTGTACACGTGTCTGTGTGTGCATGTTTCTTGGTGTGTGTACAC GTATCTCTGTGTGTACATGTGTCTTGGTGTATGTGCACATGTCGTGGTGT GTGTGCACGTGTCTCTGTGTGTGTGCATGTGTTTTGGTGTGTGTGCACGT GCCTCTTTGTATGTGCCTATCTCTGTGGGTGTACACGTGTCTGTGTGTGC ATGTTTCTTGGTGTGTGTACACGTATCTCTGTGTGTACATGTGTCTTGGT GTATGTACACATGTCATGGTGTGTGCATGTGTCTCTGTGTGTGTGCATGT GTTTTGGTGTGTGTGCACGTGCCTCTTTGTGCCTATCTCTGTGGGTGTAC ACATGTTTGTGTGTGCATGTGTCTCTGTGTGTGCATGTTTCTTGGTGTGT GTACACGTGTCTGTGTGTGTGCATATCTCTGTACACGTGTCTGTGTGTGC ATGTGTCTCTGTGAGTACATGCGTCTGTGTGTGTATGTGTCTCTGTGTAT GTATACATGTCTGTGTGTGTGCATGTGTCTGTGTATACACGTATCTGTGT GTGCATGTGTCTATGTGTACACGTGTCTTGGTGTGTGTTCATGTGTCTGT GTGCATGTATCTTGGTGTGTGTGAATGTGTCTGTGTGTGCATGTGTTTTG GTGTGTGTGCACGTGTCTCTGTGTGTTCCTATCTCTGTGTGTGTACACTG TGTGTGTACACATGTCTGTGTGTGCACGTGTCTCTGTGTGCATGTGTCTG TGTACACATGTCTTGGTGTGTGTGCCTGTGTCTCTCTGTGTGTGCATGTG TTTTGGTGTGTGTGCACGTGTCTCTTTGTGT	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
TCERG1L_chr10_131087391_131316721	131176845	C C	CACACAAA others(1202): Show CACACAAAGAGACACGTGCACACACACCAAAACACATGCACACACAGAGA GACACAGGCACACACACCAAGACATGTGTACACAGACACATGCACACAGA GACACGTGCACACACAGACATGTGTACACACACAGTGTACACACACAGAG ATAGGAACACACAGAGACACGTGCACACACACCAAAACACATGCACACAC AGACACATTCACACACACCAAGATACATGCACACAGACACATGAACACAC ACCAAGACACGTGTACACATAGACACATGCACACACAGATACGTGTATAC ACAGACACATGCACACACACAGACATGTATACATACACAGAGACACATAC ACACACAGACGCATGTACTCACAGAGACACATGCACACACAGACACGTGT ACAGAGATATGCACACACACAGACACGTGTACACACACCAAGAAACATGC ACACACAGAGACACATGCACACACAAACATGTGTACACCCACAGAGATAG GCACAAAGAGGCACGTGCACACACACCAAAACACATGCACACACACAGAG ACACATGCACACACCATGACATGTGTACATACACCAAGACACATGTACAC ACAGAGATACGTGTACACACACCAAGAAACATGCACACACAGACACGTGT ACACCCACAGAGATAGGCACATACAAAGAGGCACGTGCACACACACCAAA ACACATGCACACACACAGAGACACGTGCACACACACCACGACATGTGCAC ATACACCAAGACACATGTACACACAGAGATACGTGTACACACACCAAGAA ACATGCACACACAGACACGTGTACACACACCAAGAAACATGCACACACAG AGACACATGCACACACAAACACGTGTACACCCACAGAGATAGGCACATAC AAAGAGGCACGTGCACACACACCAAAACACATGCACACACACAGACACGT GCACACACACCAAGACATGTGCACATACACCAAGACACATGTATACACAG AGATACACGTACACACACAGAGACACATGCACACACAGACATGTGTACAC ACAGAGAGATAGGCACACACAAAGAGACACGTGCACACACACCAAAACAC ATGCACACACAGAGAGACACAGGCACACACACCGTGTACACAGACACATG CACACAGAGACACGTGCACACACAGACATGTGTACACACACAGAGTGTAC ACACACAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(153): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19077.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0010	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0013 a0002c0004 a0003c0005 a0008c0011 a0010c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0003t0001 a0001c0003t0003 a0001c0009t0007 a0001c0013t0003 a0002c0004t0007 a0002c0004t0008 a0003c0005t0002 a0003c0005t0008 a0008c0011t0004 a0010c0016t0023	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 others(153): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0002g0200 a0001c0001t0002g0212 a0001c0001t0002g0233 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0264 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0292 a0001c0001t0002g0295 a0001c0001t0002g0301 a0001c0001t0002g0305 a0001c0001t0002g0314 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0044 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0095 a0001c0001t0003g0114 a0001c0001t0004g0018 a0001c0001t0004g0024 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0059 a0001c0001t0004g0067 a0001c0001t0004g0101 a0001c0001t0005g0202 a0001c0001t0005g0204 a0001c0001t0005g0206 a0001c0001t0005g0211 a0001c0001t0005g0214 a0001c0001t0005g0246 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0250 a0001c0001t0005g0265 a0001c0001t0005g0278 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0293 a0001c0001t0005g0300 a0001c0001t0005g0304 a0001c0001t0005g0308 a0001c0001t0006g0016 a0001c0001t0006g0027 a0001c0001t0006g0033 a0001c0001t0006g0036 a0001c0001t0006g0072 a0001c0001t0006g0085 a0001c0001t0006g0111 a0001c0001t0006g0116 a0001c0001t0007g0261 a0001c0001t0007g0313 a0001c0001t0008g0213 a0001c0001t0008g0243 a0001c0001t0008g0303 a0001c0001t0008g0309 a0001c0001t0009g0209 a0001c0001t0009g0210 a0001c0001t0009g0245 a0001c0001t0009g0254 a0001c0001t0009g0280 a0001c0001t0009g0291 a0001c0001t0010g0075 a0001c0001t0010g0089 a0001c0001t0011g0188 a0001c0001t0011g0189 a0001c0001t0013g0001 a0001c0001t0017g0054 a0001c0001t0021g0281 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0133 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0141 a0001c0002t0001g0146 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0162 a0001c0002t0001g0170 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0003g0118 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0003g0130 a0001c0002t0003g0132 a0001c0002t0003g0142 a0001c0002t0003g0152 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0004g0168 a0001c0002t0006g0150 a0001c0002t0006g0161 a0001c0002t0006g0163 a0001c0002t0006g0171 a0001c0002t0006g0172 a0001c0002t0006g0177 a0001c0002t0014g0167 a0001c0002t0015g0143 a0001c0002t0016g0134 a0001c0003t0001g0007 a0001c0003t0001g0009 a0001c0003t0001g0011 a0001c0003t0003g0002 a0001c0003t0003g0004 a0001c0003t0003g0005 a0001c0003t0003g0006 a0001c0009t0007g0310 a0001c0013t0003g0147 a0002c0004t0007g0218 a0002c0004t0008g0216 a0002c0004t0008g0222 a0003c0005t0002g0194 a0003c0005t0008g0196 a0008c0011t0004g0046 a0010c0016t0023g0324	156	324	0.4815	1209	c.857 others(1226): Show c.857-9961_857-9960insCTCTGTGTGTGTACACTCTGTGTGTGTA CACATGTCTGTGTGTGCACGTGTCTCTGTGTGCATGTGTCTGTGTACACG GTGTGTGTGCCTGTGTCTCTCTGTGTGTGCATGTGTTTTGGTGTGTGTGC ACGTGTCTCTTTGTGTGTGCCTATCTCTCTGTGTGTACACATGTCTGTGT GTGCATGTGTCTCTGTGTGTGTACGTGTATCTCTGTGTATACATGTGTCT TGGTGTATGTGCACATGTCTTGGTGTGTGTGCACGTGTCTGTGTGTGTGC ATGTGTTTTGGTGTGTGTGCACGTGCCTCTTTGTATGTGCCTATCTCTGT GGGTGTACACGTGTTTGTGTGTGCATGTGTCTCTGTGTGTGCATGTTTCT TGGTGTGTGTACACGTGTCTGTGTGTGCATGTTTCTTGGTGTGTGTACAC GTATCTCTGTGTGTACATGTGTCTTGGTGTATGTGCACATGTCGTGGTGT GTGTGCACGTGTCTCTGTGTGTGTGCATGTGTTTTGGTGTGTGTGCACGT GCCTCTTTGTATGTGCCTATCTCTGTGGGTGTACACGTGTCTGTGTGTGC ATGTTTCTTGGTGTGTGTACACGTATCTCTGTGTGTACATGTGTCTTGGT GTATGTACACATGTCATGGTGTGTGCATGTGTCTCTGTGTGTGTGCATGT GTTTTGGTGTGTGTGCACGTGCCTCTTTGTGCCTATCTCTGTGGGTGTAC ACATGTTTGTGTGTGCATGTGTCTCTGTGTGTGCATGTTTCTTGGTGTGT GTACACGTGTCTGTGTGTGTGCATATCTCTGTACACGTGTCTGTGTGTGC ATGTGTCTCTGTGAGTACATGCGTCTGTGTGTGTATGTGTCTCTGTGTAT GTATACATGTCTGTGTGTGTGCATGTGTCTGTGTATACACGTATCTGTGT GTGCATGTGTCTATGTGTACACGTGTCTTGGTGTGTGTTCATGTGTCTGT GTGCATGTATCTTGGTGTGTGTGAATGTGTCTGTGTGTGCATGTGTTTTG GTGTGTGTGCACGTGTCTCTGTGTGTTCCTATCTCTGTGTGTGTACACTG TGTGTGTACACATGTCTGTGTGTGCACGTGTCTCTGTGTGCATGTGTCTG TGTACACATGTCTTGGTGTGTGTGCCTGTGTCTCTCTGTGTGTGCATGTG TTTTGGTGTGTGTGCACGTGTCTCTTTGTGT	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
TCERG1L_chr10_131087391_131316721	131176845	C C	CACACAAA others(1202): Show CACACAAAGAGACACGTGCACACACACCAAAACACATGCACACACAGAGA GACACAGGCACACACACCAAGACATGTGTACACAGACACATGCACACAGA GACACGTGCACACACAGACATGTGTACACACACAGTGTACACACACAGAG ATAGGAACACACAGAGACACGTGCACACACACCAAAACACATGCACACAC AGACACATTCACACACACCAAGATACATGCACACAGACACATGAACACAC ACCAAGACACGTGTACACATAGACACATGCACACACAGATACGTGTATAC ACAGACACATGCACACACACAGACATGTATACATACACAGAGACACATAC ACACACAGACGCATGTACTCACAGAGACACATGCACACACAGACACGTGT ACAGAGATATGCACACACACAGACACGTGTACACACACCAAGAAACATGC ACACACAGAGACACATGCACACACAAACATGTGTACACCCACAGAGATAG GCACAAAGAGGCACGTGCACACACACCAAAACACATGCACACACACAGAG ACACATGCACACACCATGACATGTGTACATACACCAAGACACATGTACAC ACAGAGATACGTGTACACACACCAAGAAACATGCACACACAGACACGTGT ACACCCACAGAGATAGGCACATACAAAGAGGCACGTGCACACACACCAAA ACACATGCACACACACAGAGACACGTGCACACACACCACGACATGTGCAC ATACACCAAGACACATGTACACACAGAGATACGTGTACACACACCAAGAA ACATGCACACACAGACACGTGTACACACACCAAGAAACATGCACACACAG AGACACATGCACACACAAACACGTGTACACCCACAGAGGTAGGCACATAC AAAGAGGCACGTGCACACACACCAAAACACATGCACACACACAGACACGT GCACACACACCAAGACATGTGCACATACACCAAGACACATGTATACACAG AGATACACGTACACACACAGAGACACATGCACACACAGACATGTGTACAC ACAGAGAGATAGGCACACACAAAGAGACACGTGCACACACACCAAAACAC ATGCACACACAGAGAGACACAGGCACACACACCGTGTACACAGACACATG CACACAGAGACACGTGCACACACAGACATGTGTACACACACAGAGTGTAC ACACACAGAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03490.hp2 HG03225.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0010 a0001c0001t0006 a0001c0002t0010	a0001c0001t0006g0109 a0001c0002t0010g0179 a0001c0001t0006g0109 a0001c0002t0010g0179	2	324	0.0062	1209	c.857 others(1226): Show c.857-9961_857-9960insCTCTGTGTGTGTACACTCTGTGTGTGTA CACATGTCTGTGTGTGCACGTGTCTCTGTGTGCATGTGTCTGTGTACACG GTGTGTGTGCCTGTGTCTCTCTGTGTGTGCATGTGTTTTGGTGTGTGTGC ACGTGTCTCTTTGTGTGTGCCTATCTCTCTGTGTGTACACATGTCTGTGT GTGCATGTGTCTCTGTGTGTGTACGTGTATCTCTGTGTATACATGTGTCT TGGTGTATGTGCACATGTCTTGGTGTGTGTGCACGTGTCTGTGTGTGTGC ATGTGTTTTGGTGTGTGTGCACGTGCCTCTTTGTATGTGCCTACCTCTGT GGGTGTACACGTGTTTGTGTGTGCATGTGTCTCTGTGTGTGCATGTTTCT TGGTGTGTGTACACGTGTCTGTGTGTGCATGTTTCTTGGTGTGTGTACAC GTATCTCTGTGTGTACATGTGTCTTGGTGTATGTGCACATGTCGTGGTGT GTGTGCACGTGTCTCTGTGTGTGTGCATGTGTTTTGGTGTGTGTGCACGT GCCTCTTTGTATGTGCCTATCTCTGTGGGTGTACACGTGTCTGTGTGTGC ATGTTTCTTGGTGTGTGTACACGTATCTCTGTGTGTACATGTGTCTTGGT GTATGTACACATGTCATGGTGTGTGCATGTGTCTCTGTGTGTGTGCATGT GTTTTGGTGTGTGTGCACGTGCCTCTTTGTGCCTATCTCTGTGGGTGTAC ACATGTTTGTGTGTGCATGTGTCTCTGTGTGTGCATGTTTCTTGGTGTGT GTACACGTGTCTGTGTGTGTGCATATCTCTGTACACGTGTCTGTGTGTGC ATGTGTCTCTGTGAGTACATGCGTCTGTGTGTGTATGTGTCTCTGTGTAT GTATACATGTCTGTGTGTGTGCATGTGTCTGTGTATACACGTATCTGTGT GTGCATGTGTCTATGTGTACACGTGTCTTGGTGTGTGTTCATGTGTCTGT GTGCATGTATCTTGGTGTGTGTGAATGTGTCTGTGTGTGCATGTGTTTTG GTGTGTGTGCACGTGTCTCTGTGTGTTCCTATCTCTGTGTGTGTACACTG TGTGTGTACACATGTCTGTGTGTGCACGTGTCTCTGTGTGCATGTGTCTG TGTACACATGTCTTGGTGTGTGTGCCTGTGTCTCTCTGTGTGTGCATGTG TTTTGGTGTGTGTGCACGTGTCTCTTTGTGT	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
ZNF605_chr12_132913306_132961306	132954429	A A	AGGAGAAG others(1202): Show AGGAGAAGGGTGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAGAAGGGT GGGGAGGGAGGAAAAGGGTGGGGAGGGGAGGAAAAGGGTGGGGAGGGGGG GAGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAGAAGGG TGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGGAGGG GAGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGTG TGGGGAGGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGG AGGAGAAGGGTGGGGAGGGGGGGAGAAGTGTGGGGAGGGGGGGAGAAGGG TGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGG GGGAGAAGGGTGGGGAGGGAGGAGAAGGGTGGGGAGGGGAGGAGAAGTGT GGGAGGGGGGGAGAAGGGTGGGGAGGGAGGAGAAGGGTGGGGAGGGGAGG AGAAGTGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGG GAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGTGTGGGGAGGGGGGGAG AAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAGAAGTGTGGGG AGGGGGGAGAAGGGTGGGGAGGGGGGGGAGAAGGGTGGGGAGGGGAGGAG AAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGTGTGGGGA GGGGGGAGGGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGGAG GGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGAGGAGAAGG GTGGGGAGGGGAGGAGAAGTGTGGGGAGGGGGGAGAAGGGTGGGGAGGGG AGGAGAAGGGTGGGGAGGGGGGGGAGAAGGGTGGGGAGGGGGGGAAGGGT GGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGA GAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAGAAGGTGGGG AGGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGGGA GAAGGGTGGGGAGGGGGGAGAAGGGTGGGGGAGGGGGGGGAGAAGGGGGG GAGGGGGGAGAAGGGGTGGGGAGGGGGGGAGAAGGGTGGGGAAGGGGGAG AAGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	126	0.0079	1209	c.-28 others(1228): Show c.-286+1813_-286+1814insCCCCACCCTTCTCCCCCTTCCCCACC CTTCTCCCCCCCTCCCCACCCCTTCTCCCCCCTCCCCCCCTTCTCCCCCC CCTCCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCCCTCCCCAC CCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCTTCTCCTCC CCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCC TTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCCCCCCCTCC CCACCCTTCTCCCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTC TCCCCCCTCCCCACACTTCTCCTCCCCTCCCCACCCTTCTCCTCCCTCCC CACCCTTCTCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCCACCCTTCTC CTCCCCTCCCCACCCTTCTCCCCCCCCTCCCCCCTCCCCACACTTCTCCC CCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCTCCCCTCCCCAC CCTTCTCCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACACTTCTCCTC CCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCCTCCCCAC ACTTCTCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCTCC CCTCCCCACCCTTCTCCCCCCTCCCCACACTTCTCCTCCCCTCCCCACCC TTCTCCTCCCTCCCCACCCTTCTCCCCCCCTCCCACACTTCTCCTCCCCT CCCCACCCTTCTCCTCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTC TCCTCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCCTC CCCACACTTCTCCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTC TCCTCCCCTCCCCACCCTTCTCCCCCCCTCCCCACACTTCTCCCCCCTCC CCACCCTTCTCCTCCCCTCCCCACCCTTCTCCTCCCCTCCCCCACCCTTC TCCCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCTCCCCTC CCCACCCTTCTCCTCCCCTCCCCACCCTTCTCTCCCCCCCTCCCCACCCT TTTCCTCCCCTCCCCACCCTTTTCCTCCCTCCCCACCCTTCTCCTCCCCT CCCCACCCTTCTCCTCCCCTCCCACCCTTCTCC	ZNF605	ENSG00000196458.11	transcript	ENST00000360187.9	protein_coding	1/4			chr12	TogoVar
CCDC183_chr9_136791338_136812741	136803287	C C	CCCCCCAG others(1203): Show CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCT GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGCCCCCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCGGGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGG CGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCGGGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCA GGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCTGGGGG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	398	0.0025	1210	c.666 others(1225): Show c.666+511_666+512insCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGCCCCCCAGGGCGGGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCGGGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGC CCTCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCGGGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGG GGCCCTCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCTGGGGGCCCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPM_chr22_41933737_41952152	41939840	A A	AAAAGAAG others(1203): Show AAAAGAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAG AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAG AAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAA AGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAA AGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAAAGAAAGAAAG AAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAG AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAA AAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAA AGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGA AAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAAAGA AAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	258	0.0039	1210	c.403 others(1225): Show c.403-645_403-644insCTTTCTTTTTCTTTCTTTCTTTCTTTTTCT TTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTT CTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTT TCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTT TCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTT TCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTC TTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTTTCTTTCTTTCTT TCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTC TTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTC TTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTC TTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTC TCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTT TCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTT TCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTT TCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTC TTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTC TTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTT TCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTC TTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTT TCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT TTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTT TCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTC TTTCTTTCTTTTTCTTTCTTTTTCTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CYLC1_chrX_83856146_83891698	83878226	T T	TATATATA others(1203): Show TATATATATAAATATATATAAATATATATAAAAATATATATAAATATATA TAATATATATATAAAAATATATATTATATATATTATATATATAAATATAT ATATAAAAATATATATTATATATATTATATATATAAATATATATATAAAA ATATATATTATATATATTATATATATAAATATATATATAAAAATATATAT TATATATATTATATATATAAATATATATATAAAAATATATATATATAATA TATATATAAAATATATATAAATATATATAAATATATATAAAAATATTATA AATATATATAAAATATATATAAAATATATAATATATATAAAATATATATA TAAAATATATATAAATATATATAAATATATATAAAATATATAAATATATA TAAAAATATATATAAAATATATAATATATATAAAAATATATATATAAATA TATATATAAAAATATATATAAAAATATGTATATAATATATATATGAAAAT ATATATAAAAATATATATATAAATATATATCAATATATATATAAAATATA TATAAATATATATATAAAATATATATATAAAATATATATAAATACATATA TAAATATATATATAAATATATATAAATATATATATATAAAATATATATAA AATATATATATAAAATATATATAAAAATATATATATAAAATATATATAAA AATATATATATAAAATATATATAAAAATATACATATAAAATATATATAAA AATATATATAAAATATATATAAAAATATATATATAAAATATATATAAAAA TATATATATAAAATATATATAAAAAAATATATAAATATATATAAATATAT AAAAACATATATAAATATATAAATATATATAAATATATAAATATATATAT AAATATATAAATATATATAAATATATATAAATATATATATAAATATATAA ATATATATAAATATATATAAAATATATATATAAATATATAAATATATATA TAAATATATATAAATATATATAAATATATAAATATATATATAAATATATA TAAATATATATAAATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATATAAATATATATATAAATATATATAAATATATATAAATATATAAA TATATATATAA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	208	0.0048	1210	c.192 others(1229): Show c.1923+3602_1923+3603insTAAATATATATAAATATATATAAAAA TATATATAAATATATATAATATATATATAAAAATATATATTATATATATT ATATATATAAATATATATATAAAAATATATATTATATATATTATATATAT AAATATATATATAAAAATATATATTATATATATTATATATATAAATATAT ATATAAAAATATATATTATATATATTATATATATAAATATATATATAAAA ATATATATATATAATATATATATAAAATATATATAAATATATATAAATAT ATATAAAAATATTATAAATATATATAAAATATATATAAAATATATAATAT ATATAAAATATATATATAAAATATATATAAATATATATAAATATATATAA AATATATAAATATATATAAAAATATATATAAAATATATAATATATATAAA AATATATATATAAATATATATATAAAAATATATATAAAAATATGTATATA ATATATATATGAAAATATATATAAAAATATATATATAAATATATATCAAT ATATATATAAAATATATATAAATATATATATAAAATATATATATAAAATA TATATAAATACATATATAAATATATATATAAATATATATAAATATATATA TATAAAATATATATAAAATATATATATAAAATATATATAAAAATATATAT ATAAAATATATATAAAAATATATATATAAAATATATATAAAAATATACAT ATAAAATATATATAAAAATATATATAAAATATATATAAAAATATATATAT AAAATATATATAAAAATATATATATAAAATATATATAAAAAAATATATAA ATATATATAAATATATAAAAACATATATAAATATATAAATATATATAAAT ATATAAATATATATATAAATATATAAATATATATAAATATATATAAATAT ATATATAAATATATAAATATATATAAATATATATAAAATATATATATAAA TATATAAATATATATATAAATATATATAAATATATATAAATATATAAATA TATATATAAATATATATAAATATATATAAATATATATAAATATATATAAA TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA AATATATATATAAATATATATATAAATATATATATAAATATATATAAATA TATATAAATATATAAATATATATATAAATATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DISP3_chr1_11474155_11542551	11522716	G G	GACCCAGC others(1203): Show GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGC CAGGACCCAGCCAAGACCCAGCCAGGACCCAGCGAGAGCCCAGCCAGGGC CCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCC AGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCA GGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAG CCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAG CCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGC CAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCC AGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG AGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG GCCCAGCGAGA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0259 a0003c0003t0001g0259	1	358	0.0028	1210	c.236 others(1229): Show c.2363-1226_2363-1225insACCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCA GCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG GCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGA CCCAGCGAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGG ACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGC CAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCC AGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DISP3_chr1_11474155_11542551	11522716	G G	GACCCAGC others(1203): Show GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGC CAGGACCCAGCCAAGACCCAGCCAGGACCCAGCGAGAGCCCAGCCAGGGC CCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCA GGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAG CCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAG CCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGC CAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCC AGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG AGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG GCCCAGCGAGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0228 a0003c0003t0001g0228	1	358	0.0028	1210	c.236 others(1229): Show c.2363-1226_2363-1225insACCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCA GCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG GCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGA CCCAGCGAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGC CCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCC AGAGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGG ACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGC CAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCC AGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DISP3_chr1_11474155_11542551	11522716	G G	GACCCAGC others(1203): Show GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGC CAGGACCCAGCCAAGACCCAGCCAGGACCCAGCGAGAGCCCAGCCAGGGC CCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCA GGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCA GCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGG ACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAG CCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGC CAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCC AGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG AGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG GCCCAGCGAGA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0013 a0003c0008t0013	a0003c0008t0013g0272 a0003c0008t0013g0272	1	358	0.0028	1210	c.236 others(1229): Show c.2363-1226_2363-1225insACCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCA GCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG GCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGA CCCAGCGAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGC CCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCC AGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCC CAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAG AGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGG ACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGC CAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCC AGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DISP3_chr1_11474155_11542551	11522716	G G	GACCCAGC others(1203): Show GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGC CAGGACCCAGCCAAGACCCAGCCAGGACCCAGCGAGAGCCCAGCCAGGGC CCAGCGAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGGCCCAGCC AGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGGCC CAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCA GGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAG CCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAG CCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGC CAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCC AGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG AGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG GCCCAGCGAGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0273 a0006c0009t0001g0273	1	358	0.0028	1210	c.236 others(1229): Show c.2363-1226_2363-1225insACCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCA GCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG GCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGA CCCAGCGAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGGCCCAGC GAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGC CCAGCCAGAGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCC AGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGG ACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGC CAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCC AGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DISP3_chr1_11474155_11542551	11522716	G G	GACCCAGC others(1203): Show GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGC CAGGACCCAGCCAAGACCCAGCCAGGACCCAGCGAGAGCCCAGCCAGGGC CCAGCGAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGGCCCAGCC AGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCA GGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAG CCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAG CCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGC CAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCC AGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG AGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG GCCCAGCGAGA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0264 a0006c0009t0001g0264	1	358	0.0028	1210	c.236 others(1229): Show c.2363-1226_2363-1225insACCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCA GCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG GCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGA CCCAGCGAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGGCCCAGC GAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGC CCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCC AGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGG ACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGC CAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCC AGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DISP3_chr1_11474155_11542551	11522716	G G	GACCCAGC others(1203): Show GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGC CAGGACCCAGCCAGGACCCAGCCAGGACCCAGCGAGAGCCCAGCCAGGGC CCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCA GGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAG CCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAG CCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGC CAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCC AGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG AGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG GCCCAGCGAGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0271 a0003c0003t0001g0271	1	358	0.0028	1210	c.236 others(1229): Show c.2363-1226_2363-1225insACCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCA GCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG GCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGA CCCAGCGAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGC CCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCC AGAGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGG ACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGC CAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCC AGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1203): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGAC TCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGG CTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTT TTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGG CCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGC CGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCC TAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGG CTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAG TCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGC CCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTT AGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTC TGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTG CCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGG GGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCA CACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCT GCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGG CTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCC AGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCC TGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGT CCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTC GGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCC TGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCT GTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGT CCACATGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0040 a0040	a0040c0090 a0040c0090	a0040c0090t0001 a0040c0090t0001	a0040c0090t0001g0096 a0040c0090t0001g0096	1	316	0.0032	1210	c.49 others(1221): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCC CCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAG GTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTT CCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTT GCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATC GCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCG ACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCT GGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTG TCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGC CTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGG AGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTC GCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAG TTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTT CTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGG CCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGC CTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGG CCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCT GTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAA TGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGG GCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAA ACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAG GTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTT TTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCA GCTCCCCCTTCCCGTCCACATGCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1203): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0051 a0051	a0051c0107 a0051c0107	a0051c0107t0003 a0051c0107t0003	a0051c0107t0003g0280 a0051c0107t0003g0280	1	316	0.0032	1210	c.49 others(1221): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1203): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAAG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	316	0.0032	1210	c.49 others(1221): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAAGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1203): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00673.hp2 HG01070.hp1 others(44): Show HG00423.hp2 HG00673.hp2 HG01070.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01358.hp1 HG01358.hp2 HG01928.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02970.hp1 HG03017.hp1 HG03130.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03704.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18948.hp1 NA18956.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18994.hp1 NA19004.hp1 NA19012.hp2 NA19064.hp1 NA19068.hp1 NA19091.hp2 NA19240.hp1	a0001 a0002 a0006 others(10): Show a0001 a0002 a0006 a0007 a0009 a0013 a0015 a0017 a0021 a0036 a0041 a0064 a0069	a0001c0001 a0001c0002 a0001c0005 others(22): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0010 a0001c0021 a0001c0032 a0001c0079 a0002c0003 a0002c0007 a0002c0104 a0002c0142 a0006c0020 a0006c0109 a0007c0019 a0007c0041 a0009c0012 a0013c0022 a0015c0013 a0017c0024 a0021c0113 a0036c0096 a0041c0089 a0064c0069 a0069c0128	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 a0001c0005t0002 a0001c0005t0003 a0001c0006t0001 a0001c0010t0001 a0001c0010t0003 a0001c0021t0001 a0001c0032t0001 a0001c0079t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0007t0001 a0002c0007t0003 a0002c0104t0002 a0002c0142t0001 a0006c0020t0002 a0006c0020t0005 a0006c0109t0003 a0007c0019t0003 a0007c0019t0008 a0007c0041t0001 a0009c0012t0001 a0009c0012t0005 a0013c0022t0001 a0013c0022t0003 a0015c0013t0001 a0017c0024t0002 a0021c0113t0002 a0036c0096t0003 a0041c0089t0002 a0064c0069t0003 a0069c0128t0002	a0001c0001t0001g0102 a0001c0001t0002g0028 a0001c0001t0002g0038 others(44): Show a0001c0001t0001g0102 a0001c0001t0002g0028 a0001c0001t0002g0038 a0001c0001t0002g0053 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0036 a0001c0002t0004g0188 a0001c0002t0004g0193 a0001c0002t0004g0204 a0001c0005t0002g0055 a0001c0005t0003g0285 a0001c0006t0001g0239 a0001c0010t0001g0154 a0001c0010t0003g0264 a0001c0010t0003g0269 a0001c0010t0003g0270 a0001c0021t0001g0236 a0001c0032t0001g0248 a0001c0079t0003g0263 a0002c0003t0001g0104 a0002c0003t0002g0054 a0002c0003t0005g0068 a0002c0007t0001g0167 a0002c0007t0003g0297 a0002c0104t0002g0014 a0002c0142t0001g0086 a0006c0020t0002g0025 a0006c0020t0002g0039 a0006c0020t0005g0069 a0006c0109t0003g0290 a0007c0019t0003g0313 a0007c0019t0008g0286 a0007c0041t0001g0105 a0009c0012t0001g0094 a0009c0012t0001g0097 a0009c0012t0001g0135 a0009c0012t0005g0067 a0013c0022t0001g0177 a0013c0022t0003g0271 a0015c0013t0001g0241 a0017c0024t0002g0252 a0021c0113t0002g0079 a0036c0096t0003g0308 a0041c0089t0002g0006 a0064c0069t0003g0267 a0069c0128t0002g0049	47	316	0.1487	1210	c.49 others(1221): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1203): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 NA19004.hp2 HG00673.hp1 NA19004.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0004 a0001c0005 a0003c0004	a0001c0005t0001 a0003c0004t0001 a0001c0005t0001 a0003c0004t0001	a0001c0005t0001g0136 a0003c0004t0001g0148 a0001c0005t0001g0136 a0003c0004t0001g0148	2	316	0.0063	1210	c.49 others(1221): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1203): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0105 a0001c0105	a0001c0105t0001 a0001c0105t0001	a0001c0105t0001g0161 a0001c0105t0001g0161	1	316	0.0032	1210	c.49 others(1221): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1203): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTTCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0002 a0017c0024t0002	a0017c0024t0002g0253 a0017c0024t0002g0253	1	316	0.0032	1210	c.49 others(1221): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTTCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1203): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02647.hp2 HG00621.hp2 HG02647.hp2	a0016 a0019 a0016 a0019	a0016c0023 a0019c0098 a0016c0023 a0019c0098	a0016c0023t0001 a0019c0098t0002 a0016c0023t0001 a0019c0098t0002	a0016c0023t0001g0155 a0019c0098t0002g0011 a0016c0023t0001g0155 a0019c0098t0002g0011	2	316	0.0063	1210	c.49 others(1221): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
FAT1_chr4_186582794_186728856	186627013	T T	TGAATGAA others(1203): Show TGAATGAATGAATGAATGAGGGACCAACATGGCACCTGACACATAAAGTG AGCTTCACCAGCCCACAGAATGAATGAATGAATGAATGAATGAGGGACCA ACATGGCACCTGGCACATAAAGTGAGCTTCACCAGCCCACAGAATGAATG AATGAATGAATGAATGAGGGACCAACATGGCACCTGGCACATAAAGTGAG CTTCACCAGCCCACAGAATGAATGAATGAATGAATGAATGAGGGACCAAC ATGGCACCTGGCACATAAAGCGAGCTTCATCAGCCTACAGAATGAATGAA TGAATGAATGAGGGACCAACATGGCACCTCGCACATAAACTGAGCTTCAT CAGCCTACAGAATGAATGAATGAATGAATGAGGGACCAACATGGCACCTG GCACATAAAGTGAGCTTCACCAGCCCACAGAATGAATGCATGAATGAATG AATGAGGGACCAACATGGCACCTGGCACATAAAGTGAGCTTCACCAGCCC ACAGAATGAATGAATGAATGAATGAGGGACCAACATGGCACCTGGCACAT AAAGTGAGCTTCATCAGCCCACAGAATGAATGAATGAATGAATGAGGGAC CAACATGGCACCTGACACATAAAGTGAGCTTCACCAGCCCACAGAATGAA TGAATGAATGAATGAATGAGGGACCAACATGGCACCTGGCACATAAAGTG AGCTTCACCAGCCCACAGAATGAATGAATGAATGAATGAATGAGGGACCA ACATGGCACCTGGCACATAAAGTGAGCTTCACCAGCCCACAGAATGAATG AATGAATGAATGAATGAGGGACCAACATGGCACCTGGCACATAAAGTGAG CTTCACCAGCCCACAGAATGAATGAATGAATGAGGGACCAACATGGCACC TGGCACATAAAGTGAGCTTCATCAGCCTACAGAATGAATGAATGAATGAA TGAGGGACCAACATGGCACCTGGCACATAAAGCGAGCTTCATCAGCCTAC AGAATGAATGAATGAATGAATGAGGGACCAACATGGCACCTGGCACATAA AGCGAGCTTCATCAGCCTACAGAATGAATGAATGAATGAATGAGGGACCA ACATGGCACCTCGCACATAAACTGAGCTTCATCAGCCTACAGAATGAATG AATGAATGAATGAGGGACCAACATGGCACCTGGCACATAAAGTGAGCTTC ATCAGCCTACA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02895.hp1 HG02970.hp1 others(7): Show HG02145.hp2 HG02895.hp1 HG02970.hp1 NA18906.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA19009.hp2 NA19058.hp1 NA20905.hp2	a0041 a0049 a0057 others(5): Show a0041 a0049 a0057 a0058 a0092 a0098 a0105 a0117	a0041c0046 a0049c0052 a0057c0064 others(5): Show a0041c0046 a0049c0052 a0057c0064 a0058c0129 a0092c0095 a0098c0114 a0105c0117 a0117c0148	a0041c0046t0001 a0041c0046t0003 a0049c0052t0051 others(7): Show a0041c0046t0001 a0041c0046t0003 a0049c0052t0051 a0049c0052t0059 a0057c0064t0003 a0058c0129t0001 a0092c0095t0019 a0098c0114t0003 a0105c0117t0014 a0117c0148t0007	a0041c0046t0001g0133 a0041c0046t0003g0091 a0049c0052t0051g0136 others(7): Show a0041c0046t0001g0133 a0041c0046t0003g0091 a0049c0052t0051g0136 a0049c0052t0059g0319 a0057c0064t0003g0094 a0058c0129t0001g0277 a0092c0095t0019g0243 a0098c0114t0003g0002 a0105c0117t0014g0104 a0117c0148t0007g0292	10	338	0.0296	1210	c.481 others(1229): Show c.4810+1140_4810+1141insTGTAGGCTGATGAAGCTCACTTTATG TGCCAGGTGCCATGTTGGTCCCTCATTCATTCATTCATTCATTCTGTAGG CTGATGAAGCTCAGTTTATGTGCGAGGTGCCATGTTGGTCCCTCATTCAT TCATTCATTCATTCTGTAGGCTGATGAAGCTCGCTTTATGTGCCAGGTGC CATGTTGGTCCCTCATTCATTCATTCATTCATTCTGTAGGCTGATGAAGC TCGCTTTATGTGCCAGGTGCCATGTTGGTCCCTCATTCATTCATTCATTC ATTCTGTAGGCTGATGAAGCTCACTTTATGTGCCAGGTGCCATGTTGGTC CCTCATTCATTCATTCATTCTGTGGGCTGGTGAAGCTCACTTTATGTGCC AGGTGCCATGTTGGTCCCTCATTCATTCATTCATTCATTCATTCTGTGGG CTGGTGAAGCTCACTTTATGTGCCAGGTGCCATGTTGGTCCCTCATTCAT TCATTCATTCATTCATTCTGTGGGCTGGTGAAGCTCACTTTATGTGCCAG GTGCCATGTTGGTCCCTCATTCATTCATTCATTCATTCATTCTGTGGGCT GGTGAAGCTCACTTTATGTGTCAGGTGCCATGTTGGTCCCTCATTCATTC ATTCATTCATTCTGTGGGCTGATGAAGCTCACTTTATGTGCCAGGTGCCA TGTTGGTCCCTCATTCATTCATTCATTCATTCTGTGGGCTGGTGAAGCTC ACTTTATGTGCCAGGTGCCATGTTGGTCCCTCATTCATTCATTCATGCAT TCATTCTGTGGGCTGGTGAAGCTCACTTTATGTGCCAGGTGCCATGTTGG TCCCTCATTCATTCATTCATTCATTCTGTAGGCTGATGAAGCTCAGTTTA TGTGCGAGGTGCCATGTTGGTCCCTCATTCATTCATTCATTCATTCTGTA GGCTGATGAAGCTCGCTTTATGTGCCAGGTGCCATGTTGGTCCCTCATTC ATTCATTCATTCATTCATTCTGTGGGCTGGTGAAGCTCACTTTATGTGCC AGGTGCCATGTTGGTCCCTCATTCATTCATTCATTCATTCATTCTGTGGG CTGGTGAAGCTCACTTTATGTGCCAGGTGCCATGTTGGTCCCTCATTCAT TCATTCATTCATTCATTCTGTGGGCTGGTGAAGCTCACTTTATGTGTCAG GTGCCATGTTGGTCCCTCATTCATTCATTCATTC	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	9/26			chr4	TogoVar
FAT1_chr4_186582794_186728856	186627013	T T	TGAATGAA others(1203): Show TGAATGAATGAATGAATGAGGGACCAACATGGCACCTGACACATAAAGTG AGCTTCACCAGCCCACAGAATGAATGAATGAATGAATGAATGAGGGACCA ACATGGCACCTGGCACATAAAGTGAGCTTCACCAGCCCACAGAATGAATG AATGAATGAATGAATGAGGGACCAACATGGCACCTGGCACATAAAGTGAG CTTCACCAGCCCACAGAATGAATGAATGAATGAATGAATGAGGGACCAAC ATGGCACCTGGCACATAAAGCGAGCTTCATCAGCCTACAGAATGAATGAA TGAATGGATGAGGGACCAACATGGCACCTCGCACATAAACTGAGCTTCAT CAGCCTACAGAATGAATGAATGAATGAATGAGGGACCAACATGGCACCTG GCACATAAAGTGAGCTTCACCAGCCCACAGAATGAATGCATGAATGAATG AATGAGGGACCAACATGGCACCTGGCACATAAAGTGAGCTTCACCAGCCC ACAGAATGAATGAATGAATGAATGAGGGACCAACATGGCACCTGGCACAT AAAGTGAGCTTCATCAGCCCACAGAATGAATGAATGAATGAATGAGGGAC CAACATGGCACCTGACACATAAAGTGAGCTTCACCAGCCCACAGAATGAA TGAATGAATGAATGAATGAGGGACCAACATGGCACCTGGCACATAAAGTG AGCTTCACCAGCCCACAGAATGAATGAATGAATGAATGAATGAGGGACCA ACATGGCACCTGGCACATAAAGTGAGCTTCACCAGCCCACAGAATGAATG AATGAATGAATGAATGAGGGACCAACATGGCACCTGGCACATAAAGTGAG CTTCACCAGCCCACAGAATGAATGAATGAATGAGGGACCAACATGGCACC TGGCACATAAAGTGAGCTTCATCAGCCTACAGAATGAATGAATGAATGAA TGAGGGACCAACATGGCACCTGGCACATAAAGCGAGCTTCATCAGCCTAC AGAATGAATGAATGAATGAATGAGGGACCAACATGGCACCTGGCACATAA AGCGAGCTTCATCAGCCTACAGAATGAATGAATGAATGAATGAGGGACCA ACATGGCACCTCGCACATAAACTGAGCTTCATCAGCCTACAGAATGAATG AATGAATGAATGAGGGACCAACATGGCACCTGGCACATAAAGTGAGCTTC ATCAGCCTACA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0091 a0091	a0091c0094 a0091c0094	a0091c0094t0001 a0091c0094t0001	a0091c0094t0001g0192 a0091c0094t0001g0192	1	338	0.0030	1210	c.481 others(1229): Show c.4810+1140_4810+1141insTGTAGGCTGATGAAGCTCACTTTATG TGCCAGGTGCCATGTTGGTCCCTCATTCATTCATTCATTCATTCTGTAGG CTGATGAAGCTCAGTTTATGTGCGAGGTGCCATGTTGGTCCCTCATTCAT TCATTCATTCATTCTGTAGGCTGATGAAGCTCGCTTTATGTGCCAGGTGC CATGTTGGTCCCTCATTCATTCATTCATTCATTCTGTAGGCTGATGAAGC TCGCTTTATGTGCCAGGTGCCATGTTGGTCCCTCATTCATTCATTCATTC ATTCTGTAGGCTGATGAAGCTCACTTTATGTGCCAGGTGCCATGTTGGTC CCTCATTCATTCATTCATTCTGTGGGCTGGTGAAGCTCACTTTATGTGCC AGGTGCCATGTTGGTCCCTCATTCATTCATTCATTCATTCATTCTGTGGG CTGGTGAAGCTCACTTTATGTGCCAGGTGCCATGTTGGTCCCTCATTCAT TCATTCATTCATTCATTCTGTGGGCTGGTGAAGCTCACTTTATGTGCCAG GTGCCATGTTGGTCCCTCATTCATTCATTCATTCATTCATTCTGTGGGCT GGTGAAGCTCACTTTATGTGTCAGGTGCCATGTTGGTCCCTCATTCATTC ATTCATTCATTCTGTGGGCTGATGAAGCTCACTTTATGTGCCAGGTGCCA TGTTGGTCCCTCATTCATTCATTCATTCATTCTGTGGGCTGGTGAAGCTC ACTTTATGTGCCAGGTGCCATGTTGGTCCCTCATTCATTCATTCATGCAT TCATTCTGTGGGCTGGTGAAGCTCACTTTATGTGCCAGGTGCCATGTTGG TCCCTCATTCATTCATTCATTCATTCTGTAGGCTGATGAAGCTCAGTTTA TGTGCGAGGTGCCATGTTGGTCCCTCATCCATTCATTCATTCATTCTGTA GGCTGATGAAGCTCGCTTTATGTGCCAGGTGCCATGTTGGTCCCTCATTC ATTCATTCATTCATTCATTCTGTGGGCTGGTGAAGCTCACTTTATGTGCC AGGTGCCATGTTGGTCCCTCATTCATTCATTCATTCATTCATTCTGTGGG CTGGTGAAGCTCACTTTATGTGCCAGGTGCCATGTTGGTCCCTCATTCAT TCATTCATTCATTCATTCTGTGGGCTGGTGAAGCTCACTTTATGTGTCAG GTGCCATGTTGGTCCCTCATTCATTCATTCATTC	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	9/26			chr4	TogoVar
IQSEC3_chr12_61767_183455	163304	C C	CCCTCCCT others(1203): Show CCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCC TCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAA CCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTC CTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCC CTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCC CCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCCTCCACAGAACCGGACCCCTCCCCTCCCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGA CCCCTCCCCTCCCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC TCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAG CCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0101 a0001c0003t0001g0101	1	282	0.0036	1210	c.258 others(1227): Show c.2584-159_2584-158insCCCTCCCTCCACAGAACCGGACCCCTCC CCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCT CCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCT CCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCAC AGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCC CTCCCCTCCCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACA GAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCT CCCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCC CTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTC TCCTCCCTCCACAGAACCGGACCCCTCCCCTC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1203): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGAC TCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGG CTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTT TTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGG CCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGC CGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCC TAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGG CTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAG TCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGC CCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTT AGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTC TGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTG CCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGG GGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCA CACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCT GCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGG CTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCC AGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCC TGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGT CCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTC GGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCC TGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCT GTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGT CCACATGCCCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0058 a0008c0012t0001g0058	1	388	0.0026	1210	c.-38 others(1229): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCT TCCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACAC CCAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCC ACACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCC CGGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGG GCTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTC TCGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGC TCTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCT GGGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGT TCCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGG GGTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCT CTGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGG GGGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCT CACATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGG GGCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAG GGACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGC CGGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGC TGAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAA GGTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTT TTCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTG AGTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGG TCTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCT TCCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCC CAGCCCAGCTCCCCCTTCCCGTCCACATGCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1203): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0060 a0002c0003t0001g0060	1	388	0.0026	1210	c.-38 others(1229): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1203): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0122 a0007c0009t0001g0122	1	388	0.0026	1210	c.-38 others(1229): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1203): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAAG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0003 a0003c0011t0003	a0003c0011t0003g0196 a0003c0011t0003g0196	1	388	0.0026	1210	c.-38 others(1229): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAAGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1203): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00423.hp1 others(47): Show HG00099.hp1 HG00323.hp2 HG00423.hp1 HG00673.hp1 HG01070.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01928.hp2 HG01981.hp2 HG02027.hp1 HG02071.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02970.hp1 HG03017.hp2 HG03130.hp2 HG03225.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03704.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18948.hp2 NA18955.hp1 NA18956.hp1 NA18975.hp2 NA18982.hp2 NA18983.hp2 NA18994.hp2 NA19004.hp2 NA19012.hp2 NA19064.hp2 NA19068.hp1 NA19079.hp2 NA19091.hp1 NA19240.hp2	a0001 a0003 a0004 others(11): Show a0001 a0003 a0004 a0006 a0007 a0011 a0028 a0032 a0033 a0042 a0043 a0050 a0051 a0055	a0001c0001 a0001c0002 a0001c0004 others(16): Show a0001c0001 a0001c0002 a0001c0004 a0001c0054 a0003c0007 a0003c0011 a0004c0005 a0006c0006 a0007c0009 a0007c0087 a0011c0010 a0028c0091 a0032c0086 a0033c0085 a0042c0056 a0043c0055 a0050c0043 a0051c0042 a0055c0037	a0001c0001t0002 a0001c0002t0001 a0001c0004t0003 others(16): Show a0001c0001t0002 a0001c0002t0001 a0001c0004t0003 a0001c0054t0024 a0003c0007t0002 a0003c0011t0003 a0004c0005t0001 a0006c0006t0002 a0007c0009t0001 a0007c0087t0001 a0011c0010t0002 a0028c0091t0001 a0032c0086t0001 a0033c0085t0001 a0042c0056t0002 a0043c0055t0002 a0050c0043t0002 a0051c0042t0002 a0055c0037t0001	a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0218 others(32): Show a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0218 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0004t0003g0005 a0001c0004t0003g0008 a0001c0054t0024g0216 a0003c0007t0002g0164 a0003c0011t0003g0005 a0004c0005t0001g0002 a0004c0005t0001g0113 a0004c0005t0001g0114 a0004c0005t0001g0126 a0006c0006t0002g0003 a0006c0006t0002g0004 a0006c0006t0002g0149 a0006c0006t0002g0150 a0006c0006t0002g0151 a0007c0009t0001g0117 a0007c0087t0001g0047 a0011c0010t0002g0004 a0011c0010t0002g0139 a0011c0010t0002g0145 a0028c0091t0001g0002 a0032c0086t0001g0127 a0033c0085t0001g0125 a0042c0056t0002g0004 a0043c0055t0002g0003 a0050c0043t0002g0004 a0051c0042t0002g0138 a0055c0037t0001g0135	50	388	0.1289	1210	c.-38 others(1229): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1203): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18971.hp1 NA19004.hp1 HG00673.hp2 NA18971.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0311 a0001c0001t0004g0031 a0001c0001t0004g0311	3	388	0.0077	1210	c.-38 others(1229): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1203): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0006 a0013c0013t0006	a0013c0013t0006g0268 a0013c0013t0006g0268	1	388	0.0026	1210	c.-38 others(1229): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1203): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTTCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0131 a0004c0005t0001g0131	1	388	0.0026	1210	c.-38 others(1229): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTTCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1203): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02647.hp2 NA19009.hp1 others(1): Show HG00621.hp1 HG02647.hp2 NA19009.hp1 NA19011.hp1	a0001 a0008 a0015 a0001 a0008 a0015	a0001c0002 a0008c0012 a0015c0021 a0001c0002 a0008c0012 a0015c0021	a0001c0002t0001 a0008c0012t0001 a0015c0021t0001 a0001c0002t0001 a0008c0012t0001 a0015c0021t0001	a0001c0002t0001g0044 a0008c0012t0001g0096 a0015c0021t0001g0132 a0001c0002t0001g0044 a0008c0012t0001g0096 a0015c0021t0001g0132	4	388	0.0103	1210	c.-38 others(1229): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KLHDC4_chr16_87702812_87770986	87739065	C C	CCTCATCC others(1203): Show CCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTC ATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCC ACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCACCCACACACCAGCACCTCATCCACCCACACACCA GCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCA TCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCA CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACA CCAGCACCTCATCCACCCACACACCAGCACCTCATCCACACACCAGCACC TCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCATCCACACACCAGCATCTCATCCATCCACACACCAGCACCTCATCCAT CCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCACCCAC ACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACAC CAGCATCCCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGT ATCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATC CATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACA CACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCA CCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCTC ATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCC ATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCC ACACACCAGCATCTCATCCACACACCAGCACCTCATCCATCCACACACCA GCATCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCA TCCATCCACACACCAGCATCTCATCCACACACCAGCACCTCATCCATCCA CACACCAGCAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	380	0.0026	1210	c.507 others(1227): Show c.507-8422_507-8421insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGG ATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGG ATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGA GGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTG TGGATGGATGAGGTGCTGGTGTGTGGATGAGATACTGGTGTGTGGATGGA TGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGC TGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGG TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTG TGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGATG AGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGG ATGGATGAGGTGCTGGTGTGTGGGTGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KREMEN1_chr22_29068035_29151820	29120429	G G	GGGAGAGG others(1203): Show GGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAG GGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGT GATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGG AGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGA GGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGA AACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGAT GAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGA GGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGA GGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAAT GGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAA GGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGT GATGATGGAAATGGAGGAAGGAGAGGTGATGATGGAAACAGGGAGGAGGG AGAGGTGATGAAGGAAACAGAGAGGAAGGAGAGGTGATGATGGAAACAGG GAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGA AACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGAT GAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGA GGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAG GAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAAC AGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAA GGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGT GATGATGGAAACAGGGAGGAGGGAGAGATGATGGAAACAGGGAGGAGGGA GAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATAATGGAAACAGGGAG GAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAA ACAGGGAGGAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00621.hp2 others(23): Show HG00423.hp2 HG00558.hp1 HG00621.hp2 HG00673.hp1 HG01071.hp2 HG01099.hp1 HG01168.hp2 HG01255.hp2 HG02027.hp2 HG02698.hp2 HG03195.hp1 NA18942.hp2 NA18948.hp1 NA18951.hp2 NA18961.hp2 NA18962.hp2 NA18971.hp1 NA18977.hp2 NA18995.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp2 NA19009.hp2 NA19064.hp2 NA19082.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0020 a0001c0001t0028 a0001c0001t0041 a0001c0001t0071 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005	a0001c0001t0002g0320 a0001c0001t0002g0342 a0001c0001t0004g0332 others(23): Show a0001c0001t0002g0320 a0001c0001t0002g0342 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0005g0020 a0001c0001t0005g0315 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0321 a0001c0001t0005g0327 a0001c0001t0005g0338 a0001c0001t0012g0125 a0001c0001t0012g0339 a0001c0001t0020g0329 a0001c0001t0028g0174 a0001c0001t0041g0324 a0001c0001t0071g0343 a0001c0002t0001g0027 a0001c0002t0001g0096 a0001c0002t0003g0097 a0001c0002t0005g0061 a0001c0002t0005g0099 a0001c0002t0005g0100 a0001c0002t0005g0113	26	368	0.0707	1210	c.353 others(1225): Show c.353-915_353-914insAGGAAATGGAGGAGGGAGAGGTGATGAAGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGA TGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGG AGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGA GGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAA CAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGAT GATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGA GGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGA GGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAAT GGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAA GGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGT GATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGG AGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGATGATGGAAACAGGGA GGAGGGAGAGGTGATGAAGGAAACAGAGAGGAAGGAGAGGTGATGATGGA AACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGAT GAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGA GGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGA GGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAAC AGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAT GGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGT GATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGG AGAGGTGATGATGGAAACAGGGAGGAGGGAGAGATGATGGAAACAGGGAG GAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATAATGGAAAC AGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATG ATGGAAACAGGGAGGAAGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
KREMEN1_chr22_29068035_29151820	29120429	G G	GGGAGAGG others(1203): Show GGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAG GGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGT GATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGG AGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGA GGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGA AACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGAT GAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGA GGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGA GGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAAT GGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAA GGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGT GATGATGGAAATGGAGGAAGGAGAGGTGATGATGGAAACAGGGAGGAGGG AGAGGTGATGAAGGAAACAGAGAGGAAGGAGAGGTGATGATGGAAACAGG GAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGA AACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGAT GAAGGAAACATGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGA GGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAG GAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAAC AGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAA GGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGT GATGATGGAAACAGGGAGGAGGGAGAGATGATGGAAACAGGGAGGAGGGA GAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATAATGGAAACAGGGAG GAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAA ACAGGGAGGAA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0337 a0001c0001t0005g0337	1	368	0.0027	1210	c.353 others(1225): Show c.353-915_353-914insAGGAAATGGAGGAGGGAGAGGTGATGAAGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGA TGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGG AGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGA GGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAA CAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGAT GATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGA GGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGA GGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAAT GGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAA GGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGT GATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGG AGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGATGATGGAAACAGGGA GGAGGGAGAGGTGATGAAGGAAACAGAGAGGAAGGAGAGGTGATGATGGA AACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGAT GAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGA GGTGATGAAGGAAACATGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGA GGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAAC AGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAT GGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGT GATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGG AGAGGTGATGATGGAAACAGGGAGGAGGGAGAGATGATGGAAACAGGGAG GAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATAATGGAAAC AGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATG ATGGAAACAGGGAGGAAGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
OPCML_chr11_132409981_133537501	133354202	A A	ATGGTGGT others(1203): Show ATGGTGGTGGTGGTGATGACGTAATGATGCTGGTGGTGATGGTGATGGCC GGGGTGACGATGATGCTGGTGGTTGTGGTGATTGGGTGGTGATAATTGTG ATGGTGATGCCGATGCCGGTGGTGATGGCAGTGGGAGTGGTGATGGTGAT GGTAGTGTGGTGGTGGTGATGTTGATAGTGCTAGTGGTGATGATGGTGGT GATGGTGATGGTAGTGATGATAGTGATGATGCTGGTGGTGGTGATGATGG TGATGGTGATGATGCTGTTGGTGGTGGTGATGGTGGTAGTGCTAGTGATG GTGGTGACAGTGATGGTCACGGTGATGGTAGTGGGTCTAGTGGTGGTGGT AGTGATGATGGTGGTGGTGATGATGCTGGTGGTGATGGTGGTGATAATGT TGATAGTGGTGGTGGTGGTGGTGGTGATAGTGATGATGGTGCTGGTGGTG GTGACATGTTGGTGGTGGTAGTGATGATGGCAGTGGTGACGGTGATGCTG GTGGTGATGGTGGTGATAATGTTGATGGTGGTGGTGATGATGCTGGTGCT GGTGGTGATGGTGGTAATAATGGTGATAGTGGTGGTGGTAGTAGTGGTGA TAGTGATGATGATGCTGGTGGTGGTGACATGTTGGTGGTGGTAGTGATGA TGGCGGTGGTGATGGTGATGCTGGTGGTGATGGTGGTGATGATGCTGGTG CTGGTGGTGATGGTGGTGATAATGGTGATAGTGGTGGTGGTAGTGGTGGT GATAGTGATGATGGTGCTGGTGATGGTGGTGGTGGTAGTGGTAGTGATGA TGGCGGTGGTGATGGTGATGCTGGTGGTGATGGTGATAATGTTGATAGTG GTGGTGGTGGTGGTGATGATGCTGGTGCTGGTGGTGATGGTGGTGATCAT GGTGATAGTGGTGGTGGTAGTGGTGGTGATAGTGATGATGGTGGTGGTGA TGGTGGTGGTGGTAGTGGTGATGATGGTGGTGGTGATGGTGATGCTGGTG GTGATGGTGGTGGTAATGTTGATAGTGGTGGTGATGGTGATGATGCTGGT GCTGGTGGTGATGGTGGTGATGATGGTGATAGTGGGGGTGGTAGTGGTGG TGATAGTGATGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTG ATGATGGTGGTGGTGATGGTGATGCTGGTGGTGATGGTGGTGGTAATGTT GATAGTGGTGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	68	0.0147	1210	c.61+ others(1229): Show c.61+178061_61+178062insCCACCACTATCAACATTACCACCACC ATCACCACCAGCATCACCATCACCACCACCATCATCACCACTACCACCAC CACCACCACCACCACCACCACCATCATCACTATCACCACCACTACCACCC CCACTATCACCATCATCACCACCATCACCACCAGCACCAGCATCATCACC ATCACCACCACTATCAACATTACCACCACCATCACCACCAGCATCACCAT CACCACCACCATCATCACCACTACCACCACCACCATCACCACCACCATCA TCACTATCACCACCACTACCACCACCACTATCACCATGATCACCACCATC ACCACCAGCACCAGCATCATCACCACCACCACCACCACTATCAACATTAT CACCATCACCACCAGCATCACCATCACCACCGCCATCATCACTACCACTA CCACCACCACCATCACCAGCACCATCATCACTATCACCACCACTACCACC ACCACTATCACCATTATCACCACCATCACCACCAGCACCAGCATCATCAC CACCATCACCACCAGCATCACCATCACCACCGCCATCATCACTACCACCA CCAACATGTCACCACCACCAGCATCATCATCACTATCACCACTACTACCA CCACCACTATCACCATTATTACCACCATCACCACCAGCACCAGCATCATC ACCACCACCATCAACATTATCACCACCATCACCACCAGCATCACCGTCAC CACTGCCATCATCACTACCACCACCAACATGTCACCACCACCAGCACCAT CATCACTATCACCACCACCACCACCACCACTATCAACATTATCACCACCA TCACCACCAGCATCATCACCACCACCATCATCACTACCACCACCACTAGA CCCACTACCATCACCGTGACCATCACTGTCACCACCATCACTAGCACTAC CACCATCACCACCACCAACAGCATCATCACCATCACCATCATCACCACCA CCAGCATCATCACTATCATCACTACCATCACCATCACCACCATCATCACC ACTAGCACTATCAACATCACCACCACCACACTACCATCACCATCACCACT CCCACTGCCATCACCACCGGCATCGGCATCACCATCACAATTATCACCAC CCAATCACCACAACCACCAGCATCATCGTCACCCCGGCCATCACCATCAC CACCAGCATCATTACGTCATCACCACCACCACCA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
PIEZO1_chr16_88710338_88790220	88713049	C C	CCCCCTTC others(1203): Show CCCCCTTCCCCGGGCCCCTGACCCCCACTCATGCCCTGAGAGCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCGGGCCCTGACCCCC ACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGA GCCCCCCTTCCCCGGGTCCTGACCCCCACTCATACCCGAGAGCCCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGG CCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCTGACCC CCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAG CCCCCCTTCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCGAGAGCCCCTTCCCCGGGCCCTGACCCCCAC TCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCCACTCATGCC CCTGAGAGCCCCCTTACCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCCTTCCCCAGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATTGCCCCTGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGG GCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0092 a0092	a0092c0145 a0092c0145	a0092c0145t0001 a0092c0145t0001	a0092c0145t0001g0184 a0092c0145t0001g0184	1	282	0.0036	1210	c.25 others(1221): Show c.2555_*2556insCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGG GAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGG CTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGTA TGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCAATGAGTG GGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGG GCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGGCCCGG GGAAGGGGGCTCTCGGGTATGAGTGGGGGGTCAGGGCCCGGGGAAGGGGG GCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCG GGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGCATGAG TGGGGGTCAGGGCCTGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGT CAGGGCCCGGGTAAGGGGGCTCTCAGGGGCATGAGTGGGGGGTCAGGGCC CGGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAG GGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCA GGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGA GTGGGGGTCAGGGCCCGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCA GGGCCCGGGGAAGGAGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGG GAAGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGCCCGGGGAAGGGGGC TCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGG GTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGGCTCTCGGGTATGAGT GGGGGTCAGGACCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTC AGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGG GGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGAAGGGG GGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGGAAGGGGGCTCTCAG GGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGCATGAG TGGGGGTCAGGGGCCCGGGGAAGGGG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2288		chr16	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(1203): Show AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGCGGGGAGCGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCC CCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCC GCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCG TCCGGGAGGAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0018 a0018	a0018c0052 a0018c0052	a0018c0052t0006 a0018c0052t0006	a0018c0052t0006g0086 a0018c0052t0006g0086	1	134	0.0075	1210	c.575 others(1231): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCAGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGG CTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGCTGACCCCCGCTCCCCGCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(1203): Show AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGGGGAGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC AGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAGGTGGCGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCC GGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCCTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCC GCCCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCG TCCGGGAGGAT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0007 a0007	a0007c0003 a0007c0003	a0007c0003t0001 a0007c0003t0001	a0007c0003t0001g0008 a0007c0003t0001g0008	1	134	0.0075	1210	c.575 others(1231): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGAGGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGATCCCGCCACCTCCCTCCCGGACTGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC TGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGCTGACCCCCCCCTCCCCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCAACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(1203): Show AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA GCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAGGTGGCGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCC GGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCTGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCCTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCC GCCCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCG TCCGGGAGGAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0001 a0010c0030t0001	a0010c0030t0001g0007 a0010c0030t0001g0007	1	134	0.0075	1210	c.575 others(1231): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGAGGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCAGCT GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGATCCCGCCACCTCCCTCCCGGACTGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCAACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)