Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ 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
PGBD5_chr1_230309490_230431332	230332040	A A	ACACACCA others(1040): Show ACACACCACACACACACACCATACCCATAACATAGACATGCACGTGTATA CACACCACACAAACATACAGACTACACACACAACACTATGTAAACATACA TATACACACACCACACAGACCACACACACACCATGCCCATAACATAGACA AACACGTGTATACACACCACACAACATACAGACCACACACACCATACAAA CTTACCACACAACAATACACACACACCACACCCACCATACCACACATACC ATACCACATACACACTCCACACCACAGTACACCACACCAATATAGACACA CACCACACCCACTATACCACACATACCATACCACATACACACTCCACACC ACAGTACACCGCGCCAATATATACACACACCACACCCACCATACCACAAA TACATATCACATACACACTCCACACCAAATATATACACACGCACATCACA GAAACATACGTATCACATACTCCACACCGCATACAACACACCAACATAGA CACACACACCACACCCACCATACCACACATACCATACCACATACACACTC CACACCACAGTACACACCAATATATACACACACACTGCAGCCACCATACC ACAAATACATATCACATCCACACTCCACACCACACACACAAATATATACA CACATGTCACAGAAACATACATATCACATACTCCACACCACATACAACAC ACCAACATACACACACACCACACCCACCATACCACACATACCATACCACA TACACACTCCACACCACAGTACACCACACCAATATAGACACACACACCAC ACCCACCATACTACAAATACATATCACATCCACACTCCACACCACACAAA TATATACACACGTCACAGAAACATACATATCACATTCTCCACACCGCATA CAACACACCAACATACACACACACACCGCACCCACCATACCACACATACC ATACCACATACACACTCCACACCACAGTACACCACACCAATATATACACA CACACCACACACACCATGCCACCAAAAATACATATCACATACACACTC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	288	0.0035	1047	c.127 others(1064): Show c.1273+803_1273+804insGAGTGTGTATGTGATATGTATTTTTGGT GGCATGGTGTGTGTGGTGTGTGTGTATATATTGGTGTGGTGTACTGTGGT GTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGGTGCGGTGTGT GTGTGTATGTTGGTGTGTTGTATGCGGTGTGGAGAATGTGATATGTATGT TTCTGTGACGTGTGTATATATTTGTGTGGTGTGGAGTGTGGATGTGATAT GTATTTGTAGTATGGTGGGTGTGGTGTGTGTGTCTATATTGGTGTGGTGT ACTGTGGTGTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGGTG TGGTGTGTGTGTATGTTGGTGTGTTGTATGTGGTGTGGAGTATGTGATAT GTATGTTTCTGTGACATGTGTGTATATATTTGTGTGTGTGGTGTGGAGTG TGGATGTGATATGTATTTGTGGTATGGTGGCTGCAGTGTGTGTGTATATA TTGGTGTGTACTGTGGTGTGGAGTGTGTATGTGGTATGGTATGTGTGGTA TGGTGGGTGTGGTGTGTGTGTCTATGTTGGTGTGTTGTATGCGGTGTGGA GTATGTGATACGTATGTTTCTGTGATGTGCGTGTGTATATATTTGGTGTG GAGTGTGTATGTGATATGTATTTGTGGTATGGTGGGTGTGGTGTGTGTAT ATATTGGCGCGGTGTACTGTGGTGTGGAGTGTGTATGTGGTATGGTATGT GTGGTATAGTGGGTGTGGTGTGTGTCTATATTGGTGTGGTGTACTGTGGT GTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGGTGTGGTGTGT GTGTATTGTTGTGTGGTAAGTTTGTATGGTGTGTGTGGTCTGTATGTTGT GTGGTGTGTATACACGTGTTTGTCTATGTTATGGGCATGGTGTGTGTGTG GTCTGTGTGGTGTGTGTATATGTATGTTTACATAGTGTTGTGTGTGTAGT CTGTATGTTTGTGTGGTGTGTATACACGTGCATGTCTATGTTATGGGTAT GGTGTGTGTGTGTGGTGTG	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	5/6			chr1	TogoVar
RIN3_chr14_92508781_92693994	92547356	T T	TATTATAA others(1040): Show TATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTT TATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAA ATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTA TAAAATAAATTATCTTTATATTATTATTATAAAATAAATTATCTTTATTT TATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTA TTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAAT TATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATA AAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTA TTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCT TTATTTTATTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATC TTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTAT TATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAA ATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAAT TATCTTTATTTTATAATTATAAAATAAATTATCTTTATTTTATAATTATA AAATAAATTATCTTTATTTTATAATTATAAAATTATCTTTATTTTATAAT TATAAAATAATCTTTATTTTATAATTATAAAATAATCTTTATTTTATTAT TATAAAATAATCTTTATTTTATTATTATAAAATAATCTTTATTTTATTAT TATAAAATAATCTTTATTTTATTATTATAATAAATTATCTTTATTACA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0149 a0002c0002t0001g0149	1	334	0.0030	1047	c.45- others(1062): Show c.45-8393_45-8392insTATAAAATAAATTATCTTTATTTTATTATT ATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATT TTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTA TCTTTATTTTATTATTATAAAATAAATTATCTTTATATTATTATTATAAA ATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTT ATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAA TTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTTA TTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAA AATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAA TTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCT TTTATTATAAAATAAATTATCTTTATTTTATAATTATAAAATAAATTATC TTTATTTTATAATTATAAAATAAATTATCTTTATTTTATAATTATAAAAT TATCTTTATTTTATAATTATAAAATAATCTTTATTTTATAATTATAAAAT AATCTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTATAAAAT AATCTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTATAATAA ATTATCTTTATTACAAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPEL1_chr10_103240887_103253016	103251122	C C	CCACCACC others(1040): Show CCACCACCACCAACACCACCACGACTACCATCACCACCACCATCACCACC TCCACCATCACCACCTCCACCATCACCACCTCCAACACCACCACCACCAC CATCACCACCTCCACCACCATCACCACCTCCACCATCACCACCACCACCA TCACCACCACCACCACCATCACCACCTCCAACACCACCTCCACCACCATC ACCACCACCACCACCACCATCACCACCATCACCACCTCCACCACCATCAC CACCACCTCCACCACCACCACCACCACTAACACCACCACCACTACCATCA CCACCACCACCACCACCATCACCACCTCCACCATCATCACCACCTCCACC ATCACCACCTCCAACACCACCACCACCACCATCACCACCTCCACCACCAT CACCACCACCACCATCACCACCTCCACCATCACCACCACCACCATCACCA ACACCACCACCATCACCAACACCACCACCACCACCACCACCTCCACCACC ATCACCACCACCACCACCATGACGACCACCACCACCATCACCACCTCCAC CACTACCACCACCACCACTAACACCACCACCACTACCATCACCACCACCA CCATCACCACCTCCACCATCATCACCACCTCCACCATCACCACCTCCAAC ACCACCACCACCACCATCACCACCTCCACCACCACCACCACCTCCACCAC CACCACCACCATCACCACCTCCACCATCATCACCACCACCATCACCACCT CCAAGATCACCACCACCATCACCACCTCCACCACCACCACCACCACCACC ACCATCACCGCCTCCACCACCATCACCGCCACCACCACCACCACCGCCAC CACCACCACCTCCACCACCACCACCACCTCCACTACCATCACCACCTCCA CCACCACCACCATCACCATCACCACCACCACCACCTCCACCACCATCATC ACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCATCAC CTCCACCATCACCACCTCCACTACCACCACCACCACCTCCACCACCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	375	0.0027	1047	c.44 others(1058): Show c.4439_*4440insCACCACCACCAACACCACCACGACTACCATCACC ACCACCATCACCACCTCCACCATCACCACCTCCACCATCACCACCTCCAA CACCACCACCACCACCATCACCACCTCCACCACCATCACCACCTCCACCA TCACCACCACCACCATCACCACCACCACCACCATCACCACCTCCAACACC ACCTCCACCACCATCACCACCACCACCACCACCATCACCACCATCACCAC CTCCACCACCATCACCACCACCTCCACCACCACCACCACCACTAACACCA CCACCACTACCATCACCACCACCACCACCACCATCACCACCTCCACCATC ATCACCACCTCCACCATCACCACCTCCAACACCACCACCACCACCATCAC CACCTCCACCACCATCACCACCACCACCATCACCACCTCCACCATCACCA CCACCACCATCACCAACACCACCACCATCACCAACACCACCACCACCACC ACCACCTCCACCACCATCACCACCACCACCACCATGACGACCACCACCAC CATCACCACCTCCACCACTACCACCACCACCACTAACACCACCACCACTA CCATCACCACCACCACCATCACCACCTCCACCATCATCACCACCTCCACC ATCACCACCTCCAACACCACCACCACCACCATCACCACCTCCACCACCAC CACCACCTCCACCACCACCACCACCATCACCACCTCCACCATCATCACCA CCACCATCACCACCTCCAAGATCACCACCACCATCACCACCTCCACCACC ACCACCACCACCACCACCATCACCGCCTCCACCACCATCACCGCCACCAC CACCACCACCGCCACCACCACCACCTCCACCACCACCACCACCTCCACTA CCATCACCACCTCCACCACCACCACCATCACCATCACCACCACCACCACC TCCACCACCATCATCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCATCACCTCCACCATCACCACCTCCACTACCACCACCACCA CCTCCACCACCAT	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		3107		chr10	TogoVar
RUSC2_chr9_35485111_35566895	35495153	T T	TATAGTAT others(1040): Show TATAGTATATATTATATATTATATATACTATAGTATATATTATATATTAT AGTATATATTATATATTATATATACTATAATATATATTTTATATATTATA TATACTATAGTATATATAATATATATTTTATATATTATATATACTATAGT ATATATAATATATATTTTATATATTATATATACTATATATACTATAGTAT TATATATACTATTATATATACTGTATATACTATTATATAGTATATATAAT AGTATATATTATACATTATATACTATATATTATATATACTATCATATATA TTATATATTATATATACTATTATATATACTATAGTATATATAATATATAA TATATACTATATATTTTATATATTATATTTTATATATAATATAATATATT TTATATATTATATAATATATTATATATAATATTTTATTATGTAATATATA ATATATATTTTATATATTATATATATTTTATTATATAATATATTTATATA TAATATATATTTTATATATAATATAATATATATTTTATATAATGTATTAT ATAATATATTATAATAATATATAACATATTTTATTATATATTATATAATA ATATATAACATATTATATTATATATTATATAATAATATATAACATATTAT ATATTATATAATAATATATAACATATTTTATTATATAATATATAATATAT TATATAATATATATTTTATTGTATATAATATATTTTATTGTATATTATAT ATAATATATTTTATTGTATATTATATATAATATATTTTATTATATAATTT ATTATAATATATATATTTTATAATATATATAATATATTTTATTATTATAT ATTTTATTATAATATATACAATATATTTTATTATAATATATAATATATTT TATAATATATATATTTTATTATAATATATATATTTTATAATATATATATT TTATAATATATATATTTTATTATAATATATATATTTTATAATATATATAT TTTATTATATATAATATATTTTATAATATATATAATATATTTTATTAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	322	0.0031	1047	c.-93 others(1064): Show c.-93+4984_-93+4985insGTATATATTATATATTATATATACTATA GTATATATTATATATTATAGTATATATTATATATTATATATACTATAATA TATATTTTATATATTATATATACTATAGTATATATAATATATATTTTATA TATTATATATACTATAGTATATATAATATATATTTTATATATTATATATA CTATATATACTATAGTATTATATATACTATTATATATACTGTATATACTA TTATATAGTATATATAATAGTATATATTATACATTATATACTATATATTA TATATACTATCATATATATTATATATTATATATACTATTATATATACTAT AGTATATATAATATATAATATATACTATATATTTTATATATTATATTTTA TATATAATATAATATATTTTATATATTATATAATATATTATATATAATAT TTTATTATGTAATATATAATATATATTTTATATATTATATATATTTTATT ATATAATATATTTATATATAATATATATTTTATATATAATATAATATATA TTTTATATAATGTATTATATAATATATTATAATAATATATAACATATTTT ATTATATATTATATAATAATATATAACATATTATATTATATATTATATAA TAATATATAACATATTATATATTATATAATAATATATAACATATTTTATT ATATAATATATAATATATTATATAATATATATTTTATTGTATATAATATA TTTTATTGTATATTATATATAATATATTTTATTGTATATTATATATAATA TATTTTATTATATAATTTATTATAATATATATATTTTATAATATATATAA TATATTTTATTATTATATATTTTATTATAATATATACAATATATTTTATT ATAATATATAATATATTTTATAATATATATATTTTATTATAATATATATA TTTTATAATATATATATTTTATAATATATATATTTTATTATAATATATAT ATTTTATAATATATATATTTTATTATATATAATATATTTTATAATATATA TAATATATTTTATTAAATA	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
SEL1L2_chr20_13844247_13995614	13934345	T T	TATATATA others(1040): Show TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATTCCATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATTCC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	324	0.0031	1047	c.115 others(1064): Show c.115-2575_115-2574insGGAATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATGGAATATATATATATATGGAATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SLC1A2_chr11_35246205_35424558	35248646	G G	GATTACTA others(1040): Show GATTACTAGCAGTGCATGGATCACCTGGGGATTACTACTGGTGCATGGAT CACCAGGTGATTGCTAGTGCTACATGGATCACCAGGGGATTACTAGCAGT GCATGGATAACCTGGGGATTACTAGCAGTCCATGGATCACCTGGGGATTA CTAGCAGTGCATGGATCACCAGGGGATTACTAGTGGTGCATGGATCACCA GGTGATTACTAGTGCTACATGGATCACCAGGGGATTACTAGCAGTGCATG GATCACCAGGGGATTACTAGCGGTCCATGGATCACCAGGGGATTACTAGC AGTGCATGGATCACCAGGGGATTACTAGCAGTGTATGGATCACCAGGGGA TTACTAGCGGTGCATGGATCACCAGGGGATTATTAGCAGTGTATGGATCA CCAGGGGATTACTAGCAGTGCATGGATCACCAGGGGATTACTAGCAGTGC ATGGATCACCAGGGGATTACTAGCGGTCCATGGATCACCAGGGGATTACT AGCAGTGCATGGATCACCAGGGGATTATTAGCAGTGTATGGATCACCAGG GGATTACTAGCAGTGCATGGATCACCAGGGGATTACTAACAGTGCATGGA TCACGAGGGTATTACTAGCAGTGTATGGATCACCAGGGGATTACAAGCGG TGTATGGATCACTAGGGGATTACTAGCAGTGCATGGATCACCAGGGGATT ATTAGCAGTGCATGGATCACCAGGGGATTACTAGTGGTGCATGGATCACC AGGGGATTACTAGCAGTGCATGGATCACCAGGGGATTATTAGCAGTGCAT GGATCACCAGGGGATTACTAGTGGTGCATGGATCACCAGGGGATTACTAG CAGTGCATGGATCACTAGGGGATTACTAGCAGTGCATGGATCACCAGGGG ATTACTAGTGGTGCATGGATCACCAGGGGATTACTAGTGCTACATGGATC ACCAGGGGATTACAAGCGGTGTATGGATCACTAGGGGATTACTAGCAGTG CATGGATCACCAGGGGATTACTAGCAGTGCATGGATCACCAGGGGATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0291 a0001c0001t0013g0297 a0001c0001t0013g0291 a0001c0001t0013g0297	2	306	0.0065	1047	c.12 others(1060): Show c.12247_*12248insAATCCCCTGGTGATCCATGCACTGCTAGTAAT CCCCTGGTGATCCATGCACTGCTAGTAATCCCCTAGTGATCCATACACCG CTTGTAATCCCCTGGTGATCCATGTAGCACTAGTAATCCCCTGGTGATCC ATGCACCACTAGTAATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCT AGTGATCCATGCACTGCTAGTAATCCCCTGGTGATCCATGCACCACTAGT AATCCCCTGGTGATCCATGCACTGCTAATAATCCCCTGGTGATCCATGCA CTGCTAGTAATCCCCTGGTGATCCATGCACCACTAGTAATCCCCTGGTGA TCCATGCACTGCTAATAATCCCCTGGTGATCCATGCACTGCTAGTAATCC CCTAGTGATCCATACACCGCTTGTAATCCCCTGGTGATCCATACACTGCT AGTAATACCCTCGTGATCCATGCACTGTTAGTAATCCCCTGGTGATCCAT GCACTGCTAGTAATCCCCTGGTGATCCATACACTGCTAATAATCCCCTGG TGATCCATGCACTGCTAGTAATCCCCTGGTGATCCATGGACCGCTAGTAA TCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTGGTGATCCATGCACT GCTAGTAATCCCCTGGTGATCCATACACTGCTAATAATCCCCTGGTGATC CATGCACCGCTAGTAATCCCCTGGTGATCCATACACTGCTAGTAATCCCC TGGTGATCCATGCACTGCTAGTAATCCCCTGGTGATCCATGGACCGCTAG TAATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTGGTGATCCATGT AGCACTAGTAATCACCTGGTGATCCATGCACCACTAGTAATCCCCTGGTG ATCCATGCACTGCTAGTAATCCCCAGGTGATCCATGGACTGCTAGTAATC CCCAGGTTATCCATGCACTGCTAGTAATCCCCTGGTGATCCATGTAGCAC TAGCAATCACCTGGTGATCCATGCACCAGTAGTAATCCCCAGGTGATCCA TGCACTGCTAGTAAT	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding		2558		chr11	TogoVar
SRXN1_chr20_641615_658200	642271	G G	GCCCAGCG others(1040): Show GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGCCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGTG GGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGAGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGG GGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG GTGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGG AGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTG CCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGC GGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	422	0.0024	1047	c.64 others(1058): Show c.6442_*6443insGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACA GGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCA CCCCCGCTGGGCACCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCA CCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACTCCACCCCC GCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTC CACCCCCGCTGGG	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4343		chr20	TogoVar
TRAF6_chr11_36478769_36515272	36507379	T T	TACGTATA others(1040): Show TACGTATATATACATGTATTATACATACATAAATGTATATACGTATATAT ACATGTATTATACATACATAAATGTATATACGTATATATACATGTATTAT ACATACATAAATGTATATACGTATATATACATGTATTATACATACATAAA TGTATATACGTATATATACATGTATTATACATACATAAATGTATATACGT ATATATACATGTATTATACATACATAAATGTATATACGTATATATACATG TATTATACATACATAAATGTATATACGTATATATACATGTATTATACATA CATAAATGTATATACGTATATATACATGTATTATACATACATAAATGTAT ATACGTATATATACATGTATTATACATACATAAATGTATATACGTATATA TACATGTATTATACATACATAAATGTATATACGTATATATACATGTATTA TACATACATAAATGTATATACGTATATATACATGTATTATACATACATAA ATGTATATACGTATATATACATGTATTATACATACATAAATGTATATACG TATATATACATGTATTATACATACATAAATGTATATACGTATATATACAT GTATTATACATACGTAAATGTATATATACATTATACATACGTAAATGTAT ATATGTATATATACATTATACATACGTAAATGTATAATGTATATATACAT TATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATG TATAATGTATATATACATTATACATACGTAAATGTATAATGTATATATAC ATTATACATACGTAAATGTATATATGTATATATACATTATACATACGTAA ATGTATATATGTATATATACATTATACATACGTAAATGTATATATGTATA TATACATTATACATACGTAAATGTATATATGTATATATACATTATACATA CGTAAATGTATTATACATAAATGTATATATGTATATATACATGTATTATA CATACATAAATGTATATATGTATATATACATGTATTATACATACATAA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0255 a0001c0001t0004g0255	1	388	0.0026	1047	c.-23 others(1064): Show c.-23+2668_-23+2669insTTATGTATGTATAATACATGTATATATA CATATATACATTTATGTATGTATAATACATGTATATATACATATATACAT TTATGTATAATACATTTACGTATGTATAATGTATATATACATATATACAT TTACGTATGTATAATGTATATATACATATATACATTTACGTATGTATAAT GTATATATACATATATACATTTACGTATGTATAATGTATATATACATATA TACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTA TAATGTATATATACATTATACATTTACGTATGTATAATGTATATATACAT TATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATG TATAATGTATATATACATATATACATTTACGTATGTATAATGTATATATA CATTTACGTATGTATAATACATGTATATATACGTATATACATTTATGTAT GTATAATACATGTATATATACGTATATACATTTATGTATGTATAATACAT GTATATATACGTATATACATTTATGTATGTATAATACATGTATATATACG TATATACATTTATGTATGTATAATACATGTATATATACGTATATACATTT ATGTATGTATAATACATGTATATATACGTATATACATTTATGTATGTATA ATACATGTATATATACGTATATACATTTATGTATGTATAATACATGTATA TATACGTATATACATTTATGTATGTATAATACATGTATATATACGTATAT ACATTTATGTATGTATAATACATGTATATATACGTATATACATTTATGTA TGTATAATACATGTATATATACGTATATACATTTATGTATGTATAATACA TGTATATATACGTATATACATTTATGTATGTATAATACATGTATATATAC GTATATACATTTATGTATGTATAATACATGTATATATACGTATATACATT TATGTATGTATAATACATGTATATATACGTATATACATTTATGTATGTAT AATACATGTATATATACGT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(1040): Show TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTCCCC CTTCCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCTCTT CCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTT CCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTC CCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCC CTTCCCCCTTCCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCC TTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTT CCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	246	0.0041	1047	c.-10 others(1064): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCC CCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCTTTCCC CCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCC CTTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCTTTCCCCCTT CCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTCCCC CTTCCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCTTT CCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCC CCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCC CCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ABR_chr17_998519_1184981	1173193	T T	TCCACCCA others(1041): Show TCCACCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACC CAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCC ACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCAACACAT CACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTC AGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCA CCCCCCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACC CCCCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCC CCACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCAACAC ATCACCTCAGTCCACCCCCCCATCACCTCAGCCCACCCAACACATCACCT CAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACCTCA GTCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGCCCAC CCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCC CATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATC ACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCAACACATCACCT CAGTCAACGCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCCC ACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAA CACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACA CATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACA TCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACACATC ACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCA GTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp2 HG02647.hp2 others(3): Show HG01884.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0018 a0001c0001t0028 others(2): Show a0001c0001t0003 a0001c0001t0018 a0001c0001t0028 a0001c0002t0001 a0001c0003t0017	a0001c0001t0003g0121 a0001c0001t0018g0111 a0001c0001t0028g0122 others(3): Show a0001c0001t0003g0121 a0001c0001t0018g0111 a0001c0001t0028g0122 a0001c0001t0028g0123 a0001c0002t0001g0110 a0001c0003t0017g0120	6	337	0.0178	1048	c.61+ others(1063): Show c.61+6473_61+6474insGCTGAGGTGATGGGGCGGGGGGTGGACTGA GGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGAT GTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGG GGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGG GGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGG GGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGG CTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGG TGATGTGTTGCGTTGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGT GTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGT TGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTG GACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGACTGA GGTGATGTGTTGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTG ATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGG GGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGT GGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGG ACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGAC TGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAG GTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATG TGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGG GTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTG AGGTGATGTGTTGGGTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173193	T T	TCCACCCA others(1041): Show TCCACCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACC CAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCC ACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCAACACAT CACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTC AGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCA CCCCCCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACC CCCCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCC CCACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCAACAC ATCACCTCAGTCCACCCCCCCATCACCTCAGCCCACCCAACACATCACCT CAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACCTCA GTCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGCCCAC CCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCC CATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATC ACCTCAGTCCACCCCCTACACATCACCTCAGTCCACCCAACACATCACCT CAGTCAACGCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCCC ACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAA CACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACA CATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACA TCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACACATC ACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCA GTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0119 a0001c0003t0012g0119	1	337	0.0030	1048	c.61+ others(1063): Show c.61+6473_61+6474insGCTGAGGTGATGGGGCGGGGGGTGGACTGA GGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGAT GTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGG GGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGG GGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGG GGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGG CTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGG TGATGTGTTGCGTTGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGT GTAGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGT TGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTG GACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGACTGA GGTGATGTGTTGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTG ATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGG GGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGT GGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGG ACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGAC TGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAG GTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATG TGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGG GTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTG AGGTGATGTGTTGGGTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(1041): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGGCACAGCAGAAAGGCAGCGA GCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGC AAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGC AGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACA TAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTG GGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	246	0.0041	1048	c.298 others(1065): Show c.2981-321_2981-320insCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTATGTCTA GCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCC TGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTG CCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTG TGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCC CTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTG CCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGC TGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCT GCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCAC CTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCC ACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGC CCACTCCCCACCTGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9400231	C C	CCCTCCCC others(1041): Show CCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCT GCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCC CCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTC CCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCT CCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTG CCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCC CCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCT CCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCC CCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTC CTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCC CCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTC CTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCT GCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCC CTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCT CCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGC CCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCC CCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGCCCTCCT GCCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCC CCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGCCCCCTGCCCCCC TCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCC TCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02083.hp1 HG01515.hp2 HG02083.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0003 a0002c0001t0003 a0001c0002t0003 a0002c0001t0003	a0001c0002t0003g0050 a0002c0001t0003g0099 a0001c0002t0003g0050 a0002c0001t0003g0099	2	210	0.0095	1048	c.273 others(1065): Show c.2734+174_2734+175insTCCTGCCCCCTCCCCTCCTGCCCCCTCC CCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTC CTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGC CCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCT TCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCC CTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTC CTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGC CCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCT CCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCT GCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCC CCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCT CCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGC CCTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCT CCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTG CCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCC TCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCC TGCCCCCCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGC CCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGTAC CCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGCCCCCTG CCCCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCC CTCCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCT CCCCTCCTCCCCTCCTGCCC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP10A_chr15_25673712_25868327	25758762	G G	GATCACCT others(1041): Show GATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC CTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGC TCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCT GCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGA CCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTC CACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCAC CTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGATC ACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATT CCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCT AACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTC CACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCAC CTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATT CCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAA CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCA CCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCCATCACCT GCTCCACCCTAACTCATTCCCACCACCTGCTCCACCCTAACTCATTCCT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	300	0.0033	1048	c.654 others(1067): Show c.654+22256_654+22257insAGGAATGAGTTAGGGTGGAGCAGGTG GTGGGAATGAGTTAGGGTGGAGCAGGTGATGGGAATGAGTTAGGGTGGAG CAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGG GTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGA GTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCG GAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGT GGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGT TAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGA ATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCG GAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGGGTGGAGCAGGTGAT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGT GGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGT TAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGA ATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTG GTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAG CAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGG AGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTA GGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAAT GAGTTAGGGTGGAGCAGGTGAT	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
C2CD4C_chr19_400445_414147	410796	C C	CCGGATCC others(1041): Show CCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGG GTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGT CACTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGTCACTGCTGGGCCC GGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGT CTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCC CTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGG ATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGATCT GTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCACT GCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGT CCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCACTGC TGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCACGGATCC TGGGGGTCTGTCCACCGCCCCTGCTGGGCTCGGATCCTGGGGGTCTGTCC ACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTG GGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGAGCCGGG AGGAGGGTCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGG GGGTCTGTCCACTGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACC GTCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGC ACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCTGGATCCTGGGG GTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGT CACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0020 a0001c0001t0020g0020	1	322	0.0031	1048	c.-18 others(1059): Show c.-1832_-1831insTGCCCAGCAGAGACGGTGGACAGACCCCCAGGAT CCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCAGGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGTGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCC GGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGG GCAGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGAC CCCCAGGACCCTCCTCCCGGCTCGGGCCCAGCAGGGGCGGTGGACAGACC CCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGG CCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGAGCCCAGCAGGGGCG GTGGACAGACCCCCAGGATCCGTGCCCAGCAGAGACGGTGGACAGACCCC CAGGATCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGGGCC CAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGT GGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCA GGATCCGTGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGGGCCCA GCAGTGACGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGTGACGGTGG ACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGG ATCCGGGCCCAGCAGGGACGGTGGACAGACCCCCAGGATCCGGGCCCAGC AGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGAC AGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGATCCCCAGGAT CCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1650		chr19	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(1041): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGGCACAGCAGAAAGGCAGCGA GCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGC AAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGC AGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACA TAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTG GGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	398	0.0025	1048	c.-22 others(1059): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTATGTCTAGCCCAC TCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTAT GTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCT ATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTC TGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCT GTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCT CGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTG CTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGC TGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTC CCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(1041): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGG CGGGGTGTGTACGGGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGG GGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGC CGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAG GGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCA TAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCAT GCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGG CATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGC ATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0008 a0007c0005t0008	a0007c0005t0008g0258 a0007c0005t0008g0258	1	338	0.0030	1048	c.300 others(1065): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGGGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTGTGTACGGGGCGGGTGAATAGACGGTCGGCATGCATAGGGCC GGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGG GCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCAT AGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATG CATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGT GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGC ATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTC GGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACG GCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTA GACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGA GTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGG GCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGG CGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGG GGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133764	T T	TCTCTCTC others(1041): Show TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCT CCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCC CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTT CCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCC TCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG TCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTC TGTCCCTCCCTCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTC CCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCA CCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCT TCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	223	0.0045	1048	c.-42 others(1059): Show c.-4280_-4279insCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCC ACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCT CTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTC CACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCCACC TCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCC CTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCT CTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGT CCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCC TCTCTCCACCTCCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3997		chr19	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(1041): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACATACT ATGTATATCATGTAGTATGTATACTACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	448	0.0022	1048	c.51+ others(1063): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACT ACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTAGTATA CATACTACATGATATACATAGTATGTAGTATACATACTACATGATATACA TAGTATGTAGTATACATACTACATGATATACATAGTATGTAGTATACATA CTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(1041): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01167.hp2 others(5): Show HG01070.hp1 HG01071.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG03239.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0013 a0001c0001t0001g0054 a0001c0001t0001g0061	8	448	0.0179	1048	c.51+ others(1063): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACT ACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTAGTATACATACTACATGATATACA TAGTATGTAGTATACATACTACATGATATACATAGTATGTAGTATACATA CTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(1041): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03654.hp1 HG02717.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0295 a0001c0001t0001g0255 a0001c0001t0001g0295	2	448	0.0045	1048	c.51+ others(1063): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACT ACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTAGTATACATACTACATGATATACATAGTATGTAGTATACATA CTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
EXD3_chr9_137301896_137428162	137355592	G G	GGAGGAAG others(1041): Show GGAGGAAGGAGGAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAA GGGAGGATGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGATG GAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAG GAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGATG GAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGG AGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGAAAGGGAGGAAGG AGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGATGGA GGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGA GGAAGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGAAAGGGA GGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAG GATGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAG GAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGG AAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGGAGGATGGAGG AAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGGAGG ATGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGA AGGAGGAAGGAGGAAGGAGAAGAAGAAGGAGGAAGGAGGAAGGAGGAAGG AGAAAGGGAGGAAGGAGGAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAG GAGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGGATGGAGGAAGGAGGAAGGAGGAAGGGAGGATGGAGGACGGAGGAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0014 a0004c0009t0001g0014	1	82	0.0122	1048	c.757 others(1063): Show c.757+675_757+676insTTCCTCCGTCCTCCATCCTCCCTTCCTCCT TCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTT CCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTT CCTCCATCCTCCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCT TCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCTTCTT CTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCC TCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTCCTCCTTCCTCCATCC TCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTCCTCCTTCC TCCATCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCT CCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTC CCTTTCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTC CTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCTTCCTC CTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCC TTCCTCCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCC ATCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCC TTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCT TCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCATCCTCCTTCCTCCTT CCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTT CCTCCCTTTCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCCT TTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTT CCTCCTTCCTCATCCTCCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTT CCTCCTTCCTCCTTCCTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
GTPBP6_chrX_299759_323796	315691	C C	CGCAGACA others(1041): Show CGCAGACACACACACACACACACACACACAGTAAATACATCCCGACAGGG ACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATC CCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACACA AACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAG ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACA CACGCAGACACACACACACACACACAAACACACAGTAAATACATCCCGAC AGGGACAGACACAGACACACACACAGAGACACACACAGAGACACACACAA ACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACA CACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAC ACACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCC GGCAGGGACACAAACACATACACACGCAGACACACACACACACACACAAA CACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAG ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACA CACGCAGACACACACACACACACACACAGTAAATACATCCCGACAGGGAC AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA CACATCCCGGCAGGGACACAAACACATGCACACGCAGACACACACACACA CACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGAC ACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACA CAAACACATACACACGCAGACACACACACACACACAAACACACAGTAAAT ACATCCCGACAGGGACAGACACACACACACAGAGACACACACAGAGACAC ACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACGCAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0003 a0002c0034t0003	a0002c0034t0003g0073 a0002c0034t0003g0073	1	155	0.0065	1048	c.488 others(1063): Show c.488-393_488-392insCTGCGTATGTGTTTGTGTCCCTGCCAGCAT GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTG TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT CTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTG TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGCATGTGTTT GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT ATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC TGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACT GTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGC CAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTG TGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGT GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC GGGATGTATTTACTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTAT GTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTG TGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGT GTGTGTGTGTGTGTCTGC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400231	C C	CCCTCCCC others(1041): Show CCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCT GCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCC CCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTC CCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCT CCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTCCCCTCCTG CCCCCTTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCC CCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCT CCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCC CCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTC CTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCC CCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTC CTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCT GCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCC CTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCT CCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGC CCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCC CCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGCCCTCCT GCCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCC CCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGCCCCCTGCCCCCC TCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCC TCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0140 a0001c0001t0140	a0001c0001t0140g0246 a0001c0001t0140g0246	1	276	0.0036	1048	c.66 others(1059): Show c.6602_*6603insAGGGGAGGGGGGGCAGGAGGGGAGGGGGCAGGAG GGCATGAGGGGAGGAGGGGAGGGGGCAGGAGGGGAGGGGGTAGGAAGGGA GGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGGAGGGGAGGGGGGAGGGGT ACAGGAGGGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGCAGGAGGGCA GGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGAAGGT GGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAAGGGGCAGGAGGG GAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGA GGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAG GGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGGCA GGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGG GGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGG GGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAG GAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGG GGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGGCA GGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGG GGGCAGGAGGGGAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGC AGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAAGGGGGCAGG AGGGGAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGG GAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAAGG GGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAAGGGGGC AGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAG GGCAGGAGGGGAGG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3243		chr2	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(1041): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCG AGCAGCAGGTGGGGAGTGGGCTAGACATAGGCACAGCAGAAAGGCAGCGA GCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGC AAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGC AGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACA TAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTG GGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	1048	c.-42 others(1059): Show c.-4292_-4291insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTATGTCTAGCCCAC TCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTAT GTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCT ATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTC TGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCT GTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCT CGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTG CTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGC TGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTC CCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(1041): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAA GGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGG GGAGGGGGGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGG GAGGGGATGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGG GAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGGA GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGG GAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGG GAGGGAAGGGAGGGAGGGGAGGGGGGGAGGGAGGGGAGGGGAGTGGAGGG GGAGGGAGGAGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGA GGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAGTGGAGGGG GAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGA GGGGAGGGGGAGGGGGAGGGAAGGAGGGAGGGGGAGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	272	0.0037	1048	c.250 others(1063): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCCTCCCTCCTTC CCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCA TCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCTCCCTC CCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCCCCCT CCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTC CCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCT CCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCC CCTCCCCTCCCATCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCATCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCT CCCCCCTCCCCCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCT TCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTT TCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCT CCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCC CCCTCCTTCCCCCTCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(1041): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTGGA GGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAGG GGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTA GGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAG GGGGCTGGGAAGGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGG CGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAG GATGGAGTGGAGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAG GGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGG CGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAG GATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCACTAGGATGGAGTGGAG GGGGCTGGGAAGGCATCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAG GCGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0119 a0119	a0119c0078 a0119c0078	a0119c0078t0001 a0119c0078t0001	a0119c0078t0001g0099 a0119c0078t0001g0099	1	249	0.0040	1048	c.148 others(1067): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTT CCCAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTC CACTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTA GCGCTGGATGCCTTCCCAGCCCCCTCCACTCCATCCTAGTGCTGGACACC TTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCC TCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTA GCGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCC TTCCCAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCC TCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTA GTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCC TTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCT CCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTA GCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCT TCCAAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTC CATCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGT GCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTC CAAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCA TCCATCCTAGCGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGC TGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCC CAGCCCCTCCACTCCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(1041): Show ATGTATATATATGTGTATATATGCATATATGTATATGCATATGTGTATAT ATGCATATATGCATATGCATATGTGTATATATGCATATATGCATATGCAT ATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATAC ATATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGC ATATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATAT ACATATATATGCATATGCATATGTGTGTATATATACATATATATGCATAT GCATATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATAT ATACATATATATGCATATGCATATGTGTGTATATATACATATATATGCAT ATGCATATGTGTGTATATATACATATATATGCATATGCATATGTGTGTAT ATATACATATATATGCATATGCATATGTGTGTATATATACATATATATGC ATATGCATATGTGTGTATATATACATATACATGCATATGCATATGTGTGT ATATATACATATACATGCATATGCATATGTGTGTATATATACATATACAT GCATATGCATATGTGTGTATATATACATATACATGTATATGCATATGTGT GTATATATACATATACATGTATATGCATATGTGTGTATATATACATATAC ATGTATATGCATATGTGTGTATATATACATATACATGTATATGCATGTGT GTATATATACATATACATGTATATGCATATGTGTGTATATATACATATAC ATGTATATGCATATGTGTGTATATATACATATACATGTATATGCATATGT GTGTATATATACACATATACATGTATATGCATATGTGTGTATATATACAC ATATACATGTATATGCATATGTGTGTATACATATACATATATATGCATAT ATGTGTATACATATACATATATATGCATATATGTGTATATATACACATAT ATATGTGTGTGTATATATATGTGTGTGTATATATACACATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	456	0.0022	1048	c.31 others(1059): Show c.3116_*3117insTGTATATATATGTGTATATATGCATATATGTATA TGCATATGTGTATATATGCATATATGCATATGCATATGTGTATATATGCA TATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATA TGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACA TATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCA TATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATA CATATATATGCATATGCATATGTGTGTATATATACATATATATGCATATG CATATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATA TACATATATATGCATATGCATATGTGTGTATATATACATATATATGCATA TGCATATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATA TATACATATATATGCATATGCATATGTGTGTATATATACATATACATGCA TATGCATATGTGTGTATATATACATATACATGCATATGCATATGTGTGTA TATATACATATACATGCATATGCATATGTGTGTATATATACATATACATG TATATGCATATGTGTGTATATATACATATACATGTATATGCATATGTGTG TATATATACATATACATGTATATGCATATGTGTGTATATATACATATACA TGTATATGCATGTGTGTATATATACATATACATGTATATGCATATGTGTG TATATATACATATACATGTATATGCATATGTGTGTATATATACATATACA TGTATATGCATATGTGTGTATATATACACATATACATGTATATGCATATG TGTGTATATATACACATATACATGTATATGCATATGTGTGTATACATATA CATATATATGCATATATGTGTATACATATACATATATATGCATATATGTG TATATATACACATATATATGTGTGTGTATATATATGTGTGTGTATATATA CACATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PCNT_chr21_46319156_46450769	46383317	C C	CGTTCAGT others(1041): Show CGTTCAGTGGCAGAAGCGCATTCACGGTGTGCATTCAGTGGCGGAAGCGC ATTCACCATGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGC ATTCAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAGC GCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGT ATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAA GTGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCATGGTGTG CGTTCAGTGGCAGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCGGAAG CGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGA AGCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGT TGTGCGTTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACG GAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACAGT GTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGG CGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACA GTGCTGTGCATTCAGTGGCGGAAGCCCATTCACGGTGTTGTGCATTCAGC GGCGGAAGCCCATTCACAGTGCTGCGCATTCAGCAGCGGAAGCGCATTCA CAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGCTGTGCATTCA GTGGTGGAAGCCCATTCACGGTGTTGTGCATTCAGTGGCGGAAGCGCATT CACAGTGTTGTATATTCAGTGGCGGAAGCACATTCACCATGTTGTATATT CAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCA TTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	332	0.0030	1048	c.331 others(1067): Show c.3312+1493_3312+1494insGCATTCACGGTGTGCATTCAGTGGCG GAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCGCATTCACGGT GTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCAGTGG CAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACC ATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGT GATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCA TGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGTGCATTCAGTG GCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCAC AGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAG CAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAGCGCATTC ACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTC AGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCAT TCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATAT TCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGC ATTCACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTCACGGTGTTGTGC ATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCATTCAGCAGCGGAAGC GCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGCTGT GCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCATTCAGTGGCGGAA GCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCACATTCACCATGTT GTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGG AAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTG TTGTGTGTTCAGTGGCAGAAGC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383427	A A	AGAAGCGC others(1041): Show AGAAGCGCGTTCACGGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAG TGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTG GCGGAAGTGCATTCACAGTGTTGTATATTCAGTGATGGAAGTGCATTCAC AGTGCTGTGCATTCAGCAGCGGAAGCGCATTCATGGTGTGCGTTCAGTGG CAGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACA GTGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGT GATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCA CGGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCA GTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCGCATT CACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACAGTGTTGTGCGTT CAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCA TTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGCTGTGCA TTCAGTGGCGGAAGCCCATTCACGGTGTTGTGCATTCAGTGGCGGAAGCC CATTCACAGTGCTGCGCATTCAGCGGCGGAAGCGCATTCACAGTGTTGTA TATTCAGTGGCGGAAGCGCATTCACAGTGCTGTGCATTCAGTGGTGGAAG CCCATTCACGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGGCGGAAGCACATTCACCATGTTGTATATTCAGTGGCGGA AGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGC TGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCA GAAGCGCATTCACGGTGTGCATTCAGTGGCGGAAGCGCATTCACCATGTT GTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01261.hp2 HG02145.hp1 others(1): Show HG01099.hp2 HG01261.hp2 HG02145.hp1 NA20752.hp2	a0011 a0068 a0011 a0068	a0011c0011 a0068c0088 a0011c0011 a0068c0088	a0011c0011t0001 a0068c0088t0001 a0011c0011t0001 a0068c0088t0001	a0011c0011t0001g0076 a0011c0011t0001g0077 a0011c0011t0001g0079 others(1): Show a0011c0011t0001g0076 a0011c0011t0001g0077 a0011c0011t0001g0079 a0068c0088t0001g0073	4	332	0.0121	1048	c.331 others(1067): Show c.3312+1594_3312+1595insGTTCACGGTGTTGTGCGTTCAGTGGC AGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCA TGTTGTATATTCAGTGGCGGAAGTGCATTCACAGTGTTGTATATTCAGTG ATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCAT GGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGTGCATTCAGTGG CGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACA GTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGC AGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCA CGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCA GTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATT CACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATT CAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCA TTCACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTCACGGTGTTGTGCA TTCAGTGGCGGAAGCCCATTCACAGTGCTGCGCATTCAGCGGCGGAAGCG CATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGCTGTG CATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCATTCAGTGGCGGAAG CGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCACATTCACCATGTTG TATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGA AGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGT TGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTGCATTCAGTGGCGGAA GCGCATTCACCATGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTT GTGCATTCAGTGGCGGAAGCGC	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383948	A A	AGTGTTGT others(1041): Show AGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTCACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTC ACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCATTC AGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCAT TCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCAT TCAGTGGCGGAAGCGCATTCACAGTATTGTATATTCAGTGGCGGAAGCAC ATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTAT ATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGC GCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTGCA TTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCG CATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTGTG CGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAG CGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGA AGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGT GCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAA GCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCT GTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAG AAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATG TTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGC AGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0023 a0023	a0023c0037 a0023c0037	a0023c0037t0001 a0023c0037t0001	a0023c0037t0001g0190 a0023c0037t0001g0190	1	332	0.0030	1048	c.331 others(1067): Show c.3313-1813_3313-1812insCTGTGCATTCAGTGGCGGAAGCCCAT TCACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCAT TCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGC ATTCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGC ATTCAGTGGCGGAAGCGCATTCACAGTATTGTATATTCAGTGGCGGAAGC ACATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGT ATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAA GCGCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTG CATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAG CGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTG TGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGA AGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGT TGTATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCG GAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTT GTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGG AAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTG CTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGC AGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCA TGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTG GCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCAC GGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTCACAGTG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383948	A A	AGTGTTGT others(1041): Show AGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTCACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTC ACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCATTC AGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCAT TCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCAT TCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCAC ATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATCCACAGTGTTGTAT ATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGC GCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTGCA TTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCG CATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTGTG CGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAG CGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGA AGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGT GCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAA GCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCT GTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAG AAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATG TTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGC AGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACG	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19030.hp1 HG03540.hp1 NA19030.hp1	a0019 a0019	a0019c0028 a0019c0028	a0019c0028t0001 a0019c0028t0001	a0019c0028t0001g0327 a0019c0028t0001g0328 a0019c0028t0001g0327 a0019c0028t0001g0328	2	332	0.0060	1048	c.331 others(1067): Show c.3313-1813_3313-1812insCTGTGCATTCAGTGGCGGAAGCCCAT TCACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCAT TCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGC ATTCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGC ATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGC ACATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATCCACAGTGTTGT ATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAA GCGCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTG CATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAG CGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTG TGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGA AGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGT TGTATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCG GAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTT GTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGG AAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTG CTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGC AGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCA TGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTG GCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCAC GGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTCACAGTG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383948	A A	AGTGTTGT others(1041): Show AGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTCACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTC ACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCATTC AGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCAT TCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCAT TCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCAC ATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTAT ATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGC GCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTGCA TTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCG CATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTGTG CGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAG CGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGA AGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGT GCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAA GCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCT GTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAG AAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATG TTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGC AGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00597.hp1 others(53): Show HG00140.hp1 HG00558.hp1 HG00597.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01243.hp2 HG01433.hp2 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02451.hp1 HG02523.hp2 HG02630.hp1 HG02723.hp1 HG02922.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03834.hp1 HG03927.hp1 NA18522.hp2 NA18941.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18985.hp2 NA18998.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp2 NA19064.hp2 NA19070.hp1 NA19081.hp2 NA19085.hp1 NA19240.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0002 a0006 a0007 others(9): Show a0002 a0006 a0007 a0017 a0020 a0023 a0029 a0050 a0052 a0057 a0062 a0065	a0002c0002 a0002c0036 a0002c0047 others(13): Show a0002c0002 a0002c0036 a0002c0047 a0006c0006 a0006c0017 a0006c0027 a0007c0005 a0017c0050 a0020c0033 a0023c0037 a0029c0039 a0050c0048 a0052c0045 a0057c0051 a0062c0077 a0065c0042	a0002c0002t0001 a0002c0036t0001 a0002c0047t0001 others(13): Show a0002c0002t0001 a0002c0036t0001 a0002c0047t0001 a0006c0006t0001 a0006c0017t0001 a0006c0027t0001 a0007c0005t0001 a0017c0050t0001 a0020c0033t0001 a0023c0037t0001 a0029c0039t0001 a0050c0048t0001 a0052c0045t0001 a0057c0051t0001 a0062c0077t0001 a0065c0042t0001	a0002c0002t0001g0037 a0002c0002t0001g0051 a0002c0002t0001g0052 others(53): Show a0002c0002t0001g0037 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0082 a0002c0002t0001g0138 a0002c0002t0001g0146 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0188 a0002c0002t0001g0191 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0208 a0002c0002t0001g0214 a0002c0002t0001g0219 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0036t0001g0177 a0002c0036t0001g0178 a0002c0047t0001g0140 a0006c0006t0001g0013 a0006c0006t0001g0015 a0006c0006t0001g0016 a0006c0006t0001g0019 a0006c0006t0001g0021 a0006c0006t0001g0023 a0006c0006t0001g0081 a0006c0017t0001g0014 a0006c0017t0001g0020 a0006c0017t0001g0022 a0006c0027t0001g0017 a0006c0027t0001g0018 a0007c0005t0001g0024 a0007c0005t0001g0026 a0007c0005t0001g0027 a0007c0005t0001g0028 a0007c0005t0001g0029 a0007c0005t0001g0030 a0007c0005t0001g0031 a0007c0005t0001g0032 a0007c0005t0001g0033 a0017c0050t0001g0185 a0020c0033t0001g0141 a0020c0033t0001g0192 a0023c0037t0001g0189 a0029c0039t0001g0011 a0050c0048t0001g0186 a0052c0045t0001g0197 a0057c0051t0001g0194 a0062c0077t0001g0182 a0065c0042t0001g0187	56	332	0.1687	1048	c.331 others(1067): Show c.3313-1813_3313-1812insCTGTGCATTCAGTGGCGGAAGCCCAT TCACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCAT TCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGC ATTCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGC ATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGC ACATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGT ATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAA GCGCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTG CATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAG CGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTG TGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGA AGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGT TGTATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCG GAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTT GTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGG AAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTG CTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGC AGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCA TGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTG GCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCAC GGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTCACAGTG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383948	A A	AGTGTTGT others(1041): Show AGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTCACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTC ACGGTGTTGTGCATTCAGTGGCGGAAGCCCATTCACAGTGCTGCGCATTC AGCGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCAT TCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCAT TCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCAC ATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTAT ATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGC GCATTCACGGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTGCA TTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCG CATTCACGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACGGTGTTGTG CGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAG CGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGA AGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGT GCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAA GCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCT GTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAG AAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATG TTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGC AGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02683.hp1 HG01069.hp2 HG01071.hp1 HG02683.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0074 a0011c0011t0001g0075 a0011c0011t0001g0078 a0011c0011t0001g0074 a0011c0011t0001g0075 a0011c0011t0001g0078	3	332	0.0090	1048	c.331 others(1067): Show c.3313-1813_3313-1812insCTGTGCATTCAGTGGCGGAAGCCCAT TCACGGTGTTGTGCATTCAGTGGCGGAAGCCCATTCACAGTGCTGCGCAT TCAGCGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGC ATTCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGC ATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGC ACATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGT ATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAA GCGCATTCACGGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTG CATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAG CGCATTCACGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACGGTGTTG TGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGA AGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGT TGTATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCG GAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTT GTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGG AAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTG CTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGC AGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCA TGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTG GCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCAC GGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTCACAGTG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383948	A A	AGTGTTGT others(1041): Show AGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTTACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTC ACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCATTC AGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCAT TCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCAT TCAGTGGCGGAAGCGCATTCACAGTGTTGTATATGCAGTGGCGGAAGCAC ATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTAT ATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGC GCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTGCA TTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCG CATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTGTG CGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAG CGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGA AGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGT GCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAA GCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCT GTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAG AAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATG TTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGC AGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	332	0.0030	1048	c.331 others(1067): Show c.3313-1820_3313-1819insTACAGTGCTGTGCATTCAGTGGCGGA AGCCCATTCACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGC TGCGCATTCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCG GAAGCGCATTCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGT GTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATGCAGTGG CGGAAGCACATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACA GTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGC AGCGGAAGCGCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCA CGGTGTGCATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTG ACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCAC GGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAG TGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTC ACAGTGTTGTATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTC AGCAGCGGAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCA CGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCA GTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATT CACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTT CAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCA TTCACCATGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCA TTCAGTGGCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCG CATTCACGGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTA TATTCAGTGGCGGAAGCGCATT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383948	A A	AGTGTTGT others(1041): Show AGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTTACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTC ACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCATTC AGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCAT TCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCAT TCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCAC ATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTAT ATTCAGTGATGGAAGCGCATTCACAGTGCCGTGCATTCAGCAGCGGAAGC GCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTGCA TTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCG CATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTGTG CGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAG CGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGA AGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGT GCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAA GCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCT GTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAG AAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATG TTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGC AGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	332	0.0030	1048	c.331 others(1067): Show c.3313-1820_3313-1819insTACAGTGCTGTGCATTCAGTGGCGGA AGCCCATTCACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGC TGCGCATTCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCG GAAGCGCATTCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGT GTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGG CGGAAGCACATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACA GTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCCGTGCATTCAGC AGCGGAAGCGCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCA CGGTGTGCATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTG ACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCAC GGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAG TGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTC ACAGTGTTGTATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTC AGCAGCGGAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCA CGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCA GTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATT CACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTT CAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCA TTCACCATGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCA TTCAGTGGCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCG CATTCACGGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTA TATTCAGTGGCGGAAGCGCATT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383948	A A	AGTGTTGT others(1041): Show AGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTTACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTC ACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCATTC AGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCAT TCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCAT TCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCAC ATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTAT ATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGC GCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTGCA TTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCG CATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTGTG CGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAG CGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGA AGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGT GCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAA GCGCAGTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCT GTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAG AAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATG TTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGC AGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	332	0.0030	1048	c.331 others(1067): Show c.3313-1820_3313-1819insTACAGTGCTGTGCATTCAGTGGCGGA AGCCCATTCACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGC TGCGCATTCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCG GAAGCGCATTCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGT GTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGG CGGAAGCACATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACA GTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGC AGCGGAAGCGCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCA CGGTGTGCATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTG ACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCAC GGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAG TGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTC ACAGTGTTGTATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTC AGCAGCGGAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCA CGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCA GTGGCGGAAGCGCAGTCACAGTGTTGTATATTCAGTGATGGAAGCGCATT CACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTT CAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCA TTCACCATGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCA TTCAGTGGCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCG CATTCACGGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTA TATTCAGTGGCGGAAGCGCATT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383948	A A	AGTGTTGT others(1041): Show AGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTTACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTC ACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCATTC AGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCAT TCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCAT TCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCAC ATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTAT ATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGC GCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTGCA TTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCG CATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTGTG CGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAG CGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGA AGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGT GCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAA GCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCT GTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAG AAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATG TTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGC AGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01074.hp1 others(19): Show HG00735.hp1 HG00741.hp1 HG01074.hp1 HG01123.hp1 HG01169.hp1 HG01256.hp1 HG01261.hp1 HG02040.hp1 HG02135.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 NA18612.hp2 NA18945.hp1 NA18954.hp1 NA18979.hp2 NA18986.hp2 NA18999.hp2 NA19057.hp1 NA19065.hp2 NA19070.hp2 NA20905.hp2	a0002 a0017 a0042 others(2): Show a0002 a0017 a0042 a0043 a0058	a0002c0002 a0002c0018 a0002c0032 others(4): Show a0002c0002 a0002c0018 a0002c0032 a0017c0031 a0042c0043 a0043c0049 a0058c0044	a0002c0002t0001 a0002c0018t0001 a0002c0032t0001 others(4): Show a0002c0002t0001 a0002c0018t0001 a0002c0032t0001 a0017c0031t0001 a0042c0043t0001 a0043c0049t0001 a0058c0044t0001	a0002c0002t0001g0036 a0002c0002t0001g0040 a0002c0002t0001g0041 others(19): Show a0002c0002t0001g0036 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0057 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0018t0001g0001 a0002c0018t0001g0002 a0002c0018t0001g0050 a0002c0032t0001g0043 a0002c0032t0001g0045 a0017c0031t0001g0039 a0042c0043t0001g0059 a0043c0049t0001g0047 a0058c0044t0001g0049	22	332	0.0663	1048	c.331 others(1067): Show c.3313-1820_3313-1819insTACAGTGCTGTGCATTCAGTGGCGGA AGCCCATTCACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGC TGCGCATTCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCG GAAGCGCATTCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGT GTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGG CGGAAGCACATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACA GTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGC AGCGGAAGCGCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCA CGGTGTGCATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAGTG ACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCAC GGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAG TGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTC ACAGTGTTGTATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTC AGCAGCGGAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCA CGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCA GTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATT CACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTT CAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCA TTCACCATGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCA TTCAGTGGCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCG CATTCACGGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTA TATTCAGTGGCGGAAGCGCATT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46383948	A A	AGTGTTGT others(1041): Show AGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTATATTCAG TGGCGGAAGCGCATTTACAGTGCTGTGCATTCAGTGGCGGAAGCCCATTC ACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGCTGCGCATTC AGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCGCAT TCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCAT TCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCAC ATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTAT ATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGC GCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCACGGTGTGCA TTCAGTGGTGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCG CATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCACGGTGTTGTG CGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAG CGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTG TATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTCAGCAGCGGA AGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCACGGTGTTGT GCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAA GCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCT GTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCAG AAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCATTCACCATG TTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGC AGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	332	0.0030	1048	c.331 others(1067): Show c.3313-1820_3313-1819insTACAGTGCTGTGCATTCAGTGGCGGA AGCCCATTCACGGTGTTGTGCATTCAGCGGCGGAAGCCCATTCACAGTGC TGCGCATTCAGCAGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGGCG GAAGCGCATTCACAGTGCTGTGCATTCAGTGGTGGAAGCCCATTCACGGT GTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGG CGGAAGCACATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTCACA GTGTTGTATATTCAGTGATGGAAGCGCATTCACAGTGCTGTGCATTCAGC AGCGGAAGCGCATTCACGGTGTTGTGTGTTCAGTGGCAGAAGCGCATTCA CGGTGTGCATTCAGTGGTGGAAGCGCATTCACCATGTTGTATATTCAGTG ACGGAAGCGCATTCACGGTGTTGTGCATTCAGTGGCAGAAGCGCATTCAC GGTGTTGTGCGTTCAGTGGCAGAAGCGCATTCACAGTGTTGTATATTCAG TGGCGGAAGCGCATTCACCATGTTGTATATTCAGTGGCGGAAGCGCATTC ACAGTGTTGTATATTCAGTGATGGAAGTGCATTCACAGTGCTGTGCATTC AGCAGCGGAAGCGCATTCATGGTGTGCGTTCAGTGGCAGAAGCGCATTCA CGGTGTTGTGCATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCA GTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTGATGGAAGCGCATT CACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCACGGTGTTGTGCGTT CAGTGGCAGAAGCGCATTCACGGTGTTGTGCGTTCAGTGGCGGAAGCGCA TTCACCATGTTGTATATTCAGTGACGGAAGCGCATTCACGGTGTTGTGCA TTCAGTGGCAGAAGCGCATTCACAGTGTTGTGCGTTCAGTGGCAGAAGCG CATTCACGGTGTTGTATATTCAGTGGCGGAAGCGCATTCACCATGTTGTA TATTCAGTGGCGGAAGCGCATT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(1041): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATTCCATATATATATATTCCATATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	324	0.0031	1048	c.115 others(1065): Show c.115-2573_115-2572insATGGAATATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SRXN1_chr20_641615_658200	642271	G G	GCCCAGCG others(1041): Show GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGCCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGTG GGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGAGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGG GGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG GGTGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGC GGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTG TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	422	0.0024	1048	c.64 others(1059): Show c.6442_*6443insGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACA GGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCA CCCCCGCTGGGCACCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACTCCACCCC CGCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCAGGCAACTCCACCCCC GCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACT CCACCCCCGCTGGG	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4343		chr20	TogoVar
TRAF6_chr11_36478769_36515272	36507379	T T	TACGTATA others(1041): Show TACGTATATATACATGTATTATACATACATAAATGTATATACGTATATAT ACATGTATTATACATACATAAATGTATATACGTATATATACATGTATTAT ACATACATAAATGTATATACGTATATATACATGTATTATACATACATAAA TGTATATACGTATATATACATGTATTATACATACATAAATGTATATACGT ATATATACATGTATTATACATACATAAATGTATATACGTATATATACATG TATTATACATACATAAATGTATATACGTATATATACATGTATTATACATA CATAAATGTATATACGTATATATACATGTATTATACATACATAAATGTAT ATACGTATATATACATGTATTATACATACATAAATGTATATACGTATATA TACATGTATTATACATACATAAATGTATATACGTATATATACATGTATTA TACATACATAAATGTATATACGTATATATACATGTATTATACATACATAA ATGTATATACGTATATATACATGTATTATACATACATAAATGTATATACG TATATATACATGTATTATACATACATAAATGTATATACGTATATATACAT GTATTATACATACGTAAATGTATATATACATTATACATACGTAAATGTAT ATATGTATATATACATTATACATACGTAAATGTATATATGTATATATACA TTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAAT GTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATATA CATTATACATACGTAAATGTATATATGTATATATACATTATACATACGTA AATGTATATATGTATATATACATTATACATACGTAAATGTATATATGTAT ATATACATTATACATACGTAAATGTATATATGTATATATACATTATACAT ACGTAAATGTATTATACATAAATGTATATATGTATATATACATGTATTAT ACATACATAAATGTATATATGTATATATACATGTATTATACATACATAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0289 a0001c0001t0057g0289	1	388	0.0026	1048	c.-23 others(1065): Show c.-23+2668_-23+2669insTTATGTATGTATAATACATGTATATATA CATATATACATTTATGTATGTATAATACATGTATATATACATATATACAT TTATGTATAATACATTTACGTATGTATAATGTATATATACATATATACAT TTACGTATGTATAATGTATATATACATATATACATTTACGTATGTATAAT GTATATATACATATATACATTTACGTATGTATAATGTATATATACATATA TACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTA TAATGTATATATACATTATACATTTACGTATGTATAATGTATATATACAT TATACATTTACGTATGTATAATGTATATATACATATATACATTTACGTAT GTATAATGTATATATACATATATACATTTACGTATGTATAATGTATATAT ACATTTACGTATGTATAATACATGTATATATACGTATATACATTTATGTA TGTATAATACATGTATATATACGTATATACATTTATGTATGTATAATACA TGTATATATACGTATATACATTTATGTATGTATAATACATGTATATATAC GTATATACATTTATGTATGTATAATACATGTATATATACGTATATACATT TATGTATGTATAATACATGTATATATACGTATATACATTTATGTATGTAT AATACATGTATATATACGTATATACATTTATGTATGTATAATACATGTAT ATATACGTATATACATTTATGTATGTATAATACATGTATATATACGTATA TACATTTATGTATGTATAATACATGTATATATACGTATATACATTTATGT ATGTATAATACATGTATATATACGTATATACATTTATGTATGTATAATAC ATGTATATATACGTATATACATTTATGTATGTATAATACATGTATATATA CGTATATACATTTATGTATGTATAATACATGTATATATACGTATATACAT TTATGTATGTATAATACATGTATATATACGTATATACATTTATGTATGTA TAATACATGTATATATACGT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
USP12_chr13_27061156_27176811	27063935	A A	AGGAGAGG others(1041): Show AGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGAAGGA AGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAGTAAA GGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGGGAGG GGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAG AGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAG GAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGGGGGA GGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAG GGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGG AGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAG AGAGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGG AGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAG GGAGGAGGGAGGAGAGGGACGGAGAAAGAGAGGGAGGGAGGAAGGAGGGA GGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGGAGGAAGGAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	167	0.0060	1048	c.53 others(1059): Show c.5347_*5348insCCCTCCCTTCCTCCCTCCCTTCCCTCCCCTCCCT CCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCTCTT TCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCTCTTTCTCCGTCCC TCTCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCT CCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCC TCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTC CCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCC TCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTT TCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCCCTCTCTTTCTCCC TCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTC TCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCC CTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCT CCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCC TCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTC CCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTC TTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTCACCC TCCCTTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCC CTTCCCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTC CCTCCCTCCTCTCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2220		chr13	TogoVar
USP12_chr13_27061156_27176811	27063935	A A	AGGAGAGG others(1041): Show AGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGAAGGA AGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAGTAAA GGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGGGAGG GGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAG AGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAG GAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGA GGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAG GGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGG AGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGGGAGGGAGGGAGAAAG AGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGG AGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAG GGAGGAGGGAGGAGAGGGACGGAGAAAGAGAGGGAGGGAGGAAGGAGGGA GGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGGAGGAAGGAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	167	0.0060	1048	c.53 others(1059): Show c.5347_*5348insCCCTCCCTTCCTCCCTCCCTTCCCTCCCCTCCCT CCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCTCTT TCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCTCTTTCTCCGTCCC TCTCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCT CCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCC TCCCTCCCTCCCTCTCTTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTC CCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCCC TCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTT TCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCC TCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTC TCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCC CCCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTT CCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCC TCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTC CCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTC TTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTCACCC TCCCTTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCC CTTCCCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTC CCTCCCTCCTCTCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2220		chr13	TogoVar
USP12_chr13_27061156_27176811	27063935	A A	AGGAGAGG others(1041): Show AGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGAAGGA AGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAGTAAA GGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGGGAGG GGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAG AGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAG GAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGA GGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAG GGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGG AGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAG AGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGG AGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAG GGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGA GGGAGGAGAGGGACGGAGAAAGAGAGGGAGGGAGGAAGGAGGGAGGAGAG GGAGGGAGAAAGAGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGGAGGAAGGAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	167	0.0060	1048	c.53 others(1059): Show c.5347_*5348insCCCTCCCTTCCTCCCTCCCTTCCCTCCCCTCCCT CCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCC TCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCTCTTTCTC CGTCCCTCTCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTC CTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCC CCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCC TCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTC CCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCCC TCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTT TCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCC TCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTC TCCTCCCCCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCC CTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCT CCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCC TCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTC CCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTC TTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTCACCC TCCCTTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCC CTTCCCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTC CCTCCCTCCTCTCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2220		chr13	TogoVar
USP12_chr13_27061156_27176811	27063935	A A	AGGAGAGG others(1041): Show AGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGAAGGA AGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAGTAAA GGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGGGAGG GGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGGGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAG AGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAG GAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGA GGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAG GGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGG AGAAAGAGAGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAAAG AGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGG AGGGAGGGAGGAGGGAGGAGAGGGACGGAGAAAGAGAGGGAGGGAGGAAG GAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGGGGAGGAG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGGAGGAAGGAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	167	0.0060	1048	c.53 others(1059): Show c.5347_*5348insCCCTCCCTTCCTCCCTCCCTTCCCTCCCCTCCCT CCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCTCTTTCTCCC TCCCTCTCCTCCCTCCTTCCTCCCTCCCTCTCTTTCTCCGTCCCTCTCCT CCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCC TCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTC CCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCC TCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTT TCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCC TCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTC TCCTCCCCCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCC CTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCT CCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCC TCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTC CCTCTCTTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCCCTCTC TTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTCACCC TCCCTTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCC CTTCCCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTC CCTCCCTCCTCTCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2220		chr13	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	ACACCCAC others(1042): Show ACACCCACACACCCATACACACACACACCAGACCCCCACACCCCCACACC CATTCACACACACCCACCCACCCACACCCACACCCACCACACACACCCAC ACCCCCACACACACCCTCCCACCCCCACACACACACATACCCCCACCACA CACCCACACACCCCCTCACACACACACCCACACCCACCACACACCCCCAC CACACACCCACATACACCCACACCCCCACCACACACCCATACACACACCC CCACATACTAATACACACACACTCCCACACCCTCCCACCCCCCCACACCC CCACCACACCAATACACACCCACACACCCCCTCACACACACACCCACACA CCCATACACACACCCACCACACACCCATACATACACACCCCCACACCCCC TCACACCCTTCCCCCACTCACCCATACACAACCCCCACCACACCCCCACA CCCATACACACACACCCCCACCACACCCATACACACACCCCTGCACCCCC TCACACACCCTCCCCCCACACACCCATACACACCCCCCCACCACACCCCC ACACCCATACACACACACCCCCACCACACCCATACACACACCCCTGCACC CCCTCACACACCCTCCCCCCTCACCCATACACAACCCCCCACCACACCCC CACACCCATACACACACACCCCCACCACACCCATACACACACCCCTGCAC CCCCTCACACACCCTCCCCCCTCACCCATACACAACCCCCACCACACCCC CACACCCATACACACACACACCCCCACCACACCCATACACACACCCCTGC ACCCCCTCACACACCCTCCCCCCACTCACCCATACACAACCCCCACCACA CCCCCACCACACCCATACACACACACCCGTACCCCCTCACACCCTCCCCC CACACACCTATCCCCACCACACACCCATACACACACACCCACACACACAC CACACCCATACACACACATACCCCCACACCCCCACACACACCCTCCCTCA CACACACCCCCACCACACACCCATACACACCCCAACCCCCCCCACACACC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0024 a0001c0010t0024	a0001c0010t0024g0024 a0001c0010t0024g0024	1	248	0.0040	1049	c.387 others(1068): Show c.3871-3767_3871-3766insGGTGTGTGGGGGGGGTTGGGGTGTGT ATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGTG GGGGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGG GTGTGTGGTGGGGATAGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGT GTGTGTGTATGGGTGTGGTGGGGGTGTGGTGGGGGTTGTGTATGGGTGAG TGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTG GGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGG TGAGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGG TGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGGTTGTGTATGG GTGAGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTG GTGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGGGTGTGTATG GGTGTGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGT GTGGTGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTA TGGGTGAGTGGGGGAAGGGTGTGAGGGGGTGTGGGGGTGTGTATGTATGG GTGTGTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGTG TGTGGGTGTGTATTGGTGTGGTGGGGGTGTGGGGGGGTGGGAGGGTGTGG GAGTGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTGGG GGTGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGGTG TGTGTGTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGTGG GGGTGGGAGGGTGTGTGTGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTG TGGGTGGGTGGGTGTGTGTGAATGGGTGTGGGGGTGTGGGGGTCTGGTGT GTGTGTGTATGGGTGTGTGGGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ADGRA1_chr10_133082924_133136675	133111685	C C	CCTCCCTC others(1042): Show CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCC ACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGA CACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCC TCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATC CCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCCCCAGA CAACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGC CCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACG GACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTC CCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAA TCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCA GACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCT GCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCTGCCA TGGGCATCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACC TCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCT AATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCAC CAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCAC CTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCAC CACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0247 a0001c0003t0016g0247	1	368	0.0027	1049	c.401 others(1066): Show c.401+8844_401+8845insTCCCTCCTAATCCCTCCAGACCACCTGC CCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACA GACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTC CCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAA TCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCA GACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCT GCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCA CGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGACACC TCCCTCCTAATCCCCCCAGACAACCTGCCCACCACAGACACCTCCCTCCT AATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTC CAGACCACCTGCCCACCACGGACACCTCCCTCCTAATCCCTCCAGACCAC CTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCA CCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGGCACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCC TCCAGACCACCTGCCTGCCATGGGCATCTCCCTCCTAATCCCTCCAGACC ACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGG CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCC TCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATC CCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGA CCACCTGCCCACCACAGACAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111934	A A	ACACCTCC others(1042): Show ACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCAC AGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCT CCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCC AGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACC TGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACC ACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACAC CTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCC TAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCT CCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCA CCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCA CCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGAC ACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCT CCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCC CTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGAC CACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCC CACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	368	0.0027	1049	c.401 others(1066): Show c.401+9092_401+9093insCACCTCCCTCCTAATCCCTCCAGACCAC CTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCAC CACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACA CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCC TCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACC ACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCC ACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGA CACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCC TCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATC CCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGA CCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGC CCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACA GACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTC CCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAA TCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCA GACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCT GCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCA CAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACC TCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCT AATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCAC CAGACCACCTGCCCACCACAG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(1042): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATGTATATATTATATATTATATATATTA TATACATATAATATATATTCTCATATATATTATATATACTCATATATATA ATATATATTCTCATATATATATTATATATTCTCATATATATAATATATAT ATTCTCATATATAATATATATTCTCATATATATAATATATACTCATATAT TATATATATTCTCATATATTATATATATACTCATATATAATGTATATATT CTAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATATA TAATATATATTCTCATATATGACATATTATATATATTCTCATATATATTA TATATTCTCATATATATTATATATTCTAATATATAATATATATTCTCATA TAATATATTATATATTCTCATATAATATATTATATATTCTCATATAATAT ATTATAAATTCTCATATAATATATTATATATTCTCATATATAATATATTA TATATTCTCATATATAATATATTATATATGCTCATATATAATATATTATA TATGCTCATATATAATATATTATATATGCTCATATATAATATATTATATA TGCTCATATATAATATATTATATATGCTCATATATATTATATATGCTCAT ATATAATATATTATATATGCTCATATATAATATATATGCTCATATATAAT ATATATGCTCATATATAATATATTATATATGCTCATATATAATATATTAT ATATGCTCATATATAATATATTATATATGCTCATATATAATATATTATAT ATGCTCATATATAATATATTATATATGCTCATATATAATATATATGCTCA TATATAATATATTATGTATGCTCATATATAATATATTATGTATGCTCATA TATAATATATTATGTATGCTCATATATAATATATTATGTATGAGCATATA TAATATATTATGTATGAGCATATATAATATATTATGTATGAGCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0024 a0003c0003t0024	a0003c0003t0024g0000 a0003c0003t0024g0000	1	416	0.0024	1049	c.10 others(1062): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGCTCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TACATAATATATTATATATGAGCATATATATTATATATGAGCATATATAA TATATTATATATGAGCATATATAATATATTATATATGAGCATATATAATA TATTATATATGAGCATATATAATATATTATATATGAGCATATATAATATA TTATATATGAGCATATATATTATATATGAGCATATATATTATATATGAGC ATATATAATATATTATATATGAGCATATATAATATATATGAGCATATATA ATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATTATATATGAGCATATATAATAT ATTATATATGAGAATATATAATATATTATATATGAGAATATATAATATAT TATATGAGAATTTATAATATATTATATGAGAATATATAATATATTATATG AGAATATATAATATATTATATGAGAATATATATTATATATTAGAATATAT AATATATATGAGAATATATAATATATATGAGAATATATATAATATGTCAT ATATGAGAATATATATTATATATGAGAATATATATTATATAAATGAGAAA ATATATATTATATATTAGAATATATACATTATATATGAGTATATATATAA TATATGAGAATATATATAATATATGAGTATATATTATATATATGAGAATA TATATTATATATGAGAATATATATATTATATATATGAGAATATATAATAT ATATATGAGAATATATATTATATATATGAGTATATATAATATATATGAGA ATATATATTATATGTATATAATATATATAATATATAATATATACATATAT ACATATATACATATAATATATAAACATATAATATATAATATATACATGTA ATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar

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Search Results (Total: 10000 hits)