Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EXD3_chr9_137301896_137428162	137329177	G G	GCTACACG others(824): Show GCTACACGGGGCTACACGGGAGCTACACGGGACTACACAGGGTCACACGG GACTACACGGGACTACAGGGGACTACACGGGGTCACACGGGACTACACGG GACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGG GACTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGG GGCTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGG GACTACACGGGGTCACACGGGACTACACGGGACTACACGGGGCTACACGG GACTACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGG GACTACACAGGGTCACACGGGACTACACGGGACTACACGGGACTACACGG GGTCACACGGGACTACACGGGGCTACACGGGGCTACACGGGACTACACAG GGTCACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGG GACTACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGG GACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGG GGCTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGG GACTACACGGGGCTACACGGGGTCACACGGGACTACACGGGACTACACGG GGCTACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGG GGCTACACGGGGTCACACGGGACTACACGGGACTACACGGGGCTACACGG GGCTACACGGGACTACACGGGGTCACACGGGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	82	0.0122	831	c.199 others(850): Show c.1999-5035_1999-5034insTCCCGTGTGACCCCGTGTAGTCCCGT GTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGT GTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGT GTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGCCCCGT GTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGT GTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGT GTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGT GTGACCCTGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCTGT GTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGT GTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGT GTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCCTGTAGTCCCGT GTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAGCTCCCGTGTAGCCCCG TGTAG		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21						chr9	TogoVar
GALR1_chr18_77244848_77282900	77252899	C C	CCACCACC others(824): Show CCACCACCACCACACCACCACCACCACCCCACACCACCACCATCACCACC ACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCATCACCACACCACCACCACCACCAT CACCCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCATCACCACCATCACCACCACCACCACCACCACCACCATCACCA CCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA TCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCATCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	366	0.0027	831	c.666 others(848): Show c.666+1697_666+1698insACCACCACCACCACCCCACACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCATCACCACACCACCAC CACCACCATCACCCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA CCATCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCATCACCACCACCATCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CAC		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(824): Show TATATTTTATATATATTATATATTTTATATATAATATATATTTTATATAT AATATATATATTTTATATATAATATATATATAATATATAATATATATATT ATATAAAATATATAATATATATCTTATATATATCATATATTTTATATAAT ATATATTTTATATATATCATATATTTTATATATAATATATATTATATATA CATTATATAATATATATTATATTATATATATTATATATTATATAATATAT ATTATATATTATACGTAATATATAATGTATATTATATATAATATATTATG TATATAATGTATATTATATATAATATACATTATATATAATGTATATATTA CATATAATATACATTATATATAATGTATATTACATATAATATACATTGTA TATAATGTATATATTACATATAATATACATTGTATATAATGTATATATTA CATATAATATACATTATATATAATGTATATTATATGTAATATACACATTA CATATAATGTATATTATATGTAATATACACATTACATATAATGTATATTA TATGTAATATATACATTACATATAATGTATATTATATGTAATATATACAT TACATAATGTATATTATATGTAATATATACATTACATAATGTATATTATA TGTAATATATACATTACATAATGTATATTATATGTAATATATACATTACA TAATATATACATTGTATATAATGTATATTATATATAATATATACATTGTA TATAATGTATATTATATATAATATATACATTGTATATAATGTATATTATA TATAATATATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	350	0.0029	831	c.94- others(844): Show c.94-787_94-786insATATTTTATATATATTATATATTTTATATATA ATATATATTTTATATATAATATATATATTTTATATATAATATATATATAA TATATAATATATATATTATATAAAATATATAATATATATCTTATATATAT CATATATTTTATATAATATATATTTTATATATATCATATATTTTATATAT AATATATATTATATATACATTATATAATATATATTATATTATATATATTA TATATTATATAATATATATTATATATTATACGTAATATATAATGTATATT ATATATAATATATTATGTATATAATGTATATTATATATAATATACATTAT ATATAATGTATATATTACATATAATATACATTATATATAATGTATATTAC ATATAATATACATTGTATATAATGTATATATTACATATAATATACATTGT ATATAATGTATATATTACATATAATATACATTATATATAATGTATATTAT ATGTAATATACACATTACATATAATGTATATTATATGTAATATACACATT ACATATAATGTATATTATATGTAATATATACATTACATATAATGTATATT ATATGTAATATATACATTACATAATGTATATTATATGTAATATATACATT ACATAATGTATATTATATGTAATATATACATTACATAATGTATATTATAT GTAATATATACATTACATAATATATACATTGTATATAATGTATATTATAT ATAATATATACATTGTATATAATGTATATTATATATAATATATACATTGT ATATAATGTATATTATATATAATATATACATTGTATATAATGTATATTA		HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5						chr15	TogoVar
IFNAR1_chr21_33319970_33364864	33322831	T T	TATGGAAT others(824): Show TATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATA TATGGAATACATATATATGGAATACATATATGGAATACATATATATGGAA TACATATATATGGAATACACATATGGAATACATATATATGGAATACATAT ATGGAATACATATATATGGAATACATATATGGAATACATATATATGGAAT ACATATATGGAATACATATATATGGAATACATATATGGAATACATATATG TGGAATACATATATGGAATATATATATGTGGAATATATATATATGGAATA TATATATATGTGGAATATATATATATGGAATATATATATGGAATATATAT ATATGGAATATATATATGGAATATATATACATGGAATATATATATGGAAT ATATATACATGGAATATATATATGGAATATATATACATGGAATATATATA TGGAATATATATACATGGAATATATATATGGAATATATATACATGGAATA TATATATGGAATATATATACATGGAATATATATATGTGGAATATATACAT GGAATATATATATGGAATATATACATATGGAATATATATATGGAATATAT ACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGA ATATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATA TATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAA TATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGT ATGGAATATATATATGGAATATATACGTATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0187 a0002c0002t0002g0187	1	323	0.0031	831	c.-22 others(842): Show c.-2225_-2224insATGGAATATATATATGGAATATATATATGGAATA TATATATGGAATATATATGGAATACATATATATGGAATACATATATGGAA TACATATATATGGAATACATATATATGGAATACACATATGGAATACATAT ATATGGAATACATATATGGAATACATATATATGGAATACATATATGGAAT ACATATATATGGAATACATATATGGAATACATATATATGGAATACATATA TGGAATACATATATGTGGAATACATATATGGAATATATATATGTGGAATA TATATATATGGAATATATATATATGTGGAATATATATATATGGAATATAT ATATGGAATATATATATATGGAATATATATATGGAATATATATACATGGA ATATATATATGGAATATATATACATGGAATATATATATGGAATATATATA CATGGAATATATATATGGAATATATATACATGGAATATATATATGGAATA TATATACATGGAATATATATATGGAATATATATACATGGAATATATATAT GTGGAATATATACATGGAATATATATATGGAATATATACATATGGAATAT ATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTATG GAATATATATATGGAATATATACGTATGGAATATATATATGGAATATATA CGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAA TATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGG		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2138		chr21	TogoVar
KLHDC4_chr16_87702812_87770986	87738936	C C	CACACCAG others(824): Show CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACC TCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCAT CCATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CACCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACC AGCATCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCA CCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTC ATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTCATCC ATCCACACACCAGTATCTCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCAC CTCATCCACCCACACACCAGCACCTCATCCAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0377 a0001c0001t0001g0377	1	380	0.0026	831	c.507 others(848): Show c.507-8293_507-8292insATGGATGAGGTGCTGGTGTGTGGGTGGA TGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGATACTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGAT GAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGA TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTG GGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGT GCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGG ATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGG ATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGA GGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGG TGT		KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11						chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87738936	C C	CACACCAG others(824): Show CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACA CCAGCATCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAG CACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACAC CAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACA CACCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCA CCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCCC ATCCATCCACACACCAGCACCTCATCCATCCACACACCAGTATCTCATCC ACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCAC CTCATCCATCCACACACCAGCACCTCATCCAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	380	0.0026	831	c.507 others(848): Show c.507-8293_507-8292insATGGATGAGGTGCTGGTGTGTGGATGGA TGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGAGATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GGATGGGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGAT GAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGG TGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTG TGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGG ATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGA GGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGATG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGG TGT		KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11						chr16	TogoVar
LCN15_chr9_136754634_136769518	136769477	A A	ACCCCCGC others(824): Show ACCCCCGCCACCCCTCCATGCACTGCCCCCCGCCACCCCCCCATGCACTG CCCCCCCCGCCACCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCC CTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCC ACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCG CCACCCCCCCATGCACTGCCCCCCCCGCCACCCCGCCACCCCTCCATGCA CTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCA TGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCC TCCATGCACTGCCCCCCGCCACCCCCCCATGCACTGCCCCCCCCGCCACC CCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCC CCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCAC TGCCCCCCGCCACCCCCCCATGCACTGCCCCCCCCGCCACCCCTCCATGC ACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCC ATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCC CTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCC ACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCC CGCCACCCCTCCATGCACTGCCCCCCGCCACCCCCCCATGCACTGCCCCC CCCGCCACCCCGCCACCCCTCCATGCACTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0017 a0003c0005t0001g0017	1	356	0.0028	831	c.-49 others(842): Show c.-4990_-4989insGGCAGTGCATGGAGGGGTGGCGGGGTGGCGGGGG GGGCAGTGCATGGGGGGGTGGCGGGGGGCAGTGCATGGAGGGGTGGCGGG GGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGG CGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGG GTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGG AGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGC ATGGAGGGGTGGCGGGGGGGGCAGTGCATGGGGGGGTGGCGGGGGGCAGT GCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGG CAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGG TGGCGGGGGGGGCAGTGCATGGGGGGGTGGCGGGGGGCAGTGCATGGAGG GGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATG GAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTG CATGGAGGGGTGGCGGGGTGGCGGGGGGGGCAGTGCATGGGGGGGTGGCG GGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGG CGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGG GTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGTGGCGGGGGGGGCA GTGCATGGGGGGGTGGCGGGGGGCAGTGCATGGAGGGGTGGCGGGGG		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4960		chr9	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(824): Show ATATATTTATATATATATTATTTATATATATATTTATATATATTTATATA TATTTATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATATTCATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATTTATATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATATATTTTTATATATATTTATATATATTTTTATATATAGT TATATATATTTATATATAGTTATATATATTTATGTATAGTTATATATATT TATGTATAGTTATATATAGTTATGTATAGTTATATATATAGTTATGTATA GTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATATA TATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTA TATATATATATTTTTATATATATAGTTATATATATATTTTTATATATATA GTTATATATATATTTATATATATAGTTATATATTTATATATATTTATATA TATTTATATATATATTTATATATTTATTTATATATATTTATATATGTATT TATATATATTTATATATATTTATATGTATTTATATATATTTATATATATT TATATATATATATATAAATATATTTATATATATAAATATAAATATTTATA TATATTTATATATATTTATATATATATTTATGTATATTTATATATATTTA TATATATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	260	0.0039	831	c.125 others(848): Show c.125+9673_125+9674insATTTATATATATATTATTTATATATATA TTTATATATATTTATATATATTTATATATATTTATATATATTTATATATA TATTTATATATATATTTATATATATTTATATATATATTTATATATATATT CATATATATTTATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATATATTTTTATATATATTTATA TATATTTTTATATATAGTTATATATATTTATATATAGTTATATATATTTA TGTATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTA TATATATAGTTATGTATAGTTATATATATAGTTATATATATATATTTTTA TATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATA TTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATA TATATTTTTATATATATAGTTATATATATATTTATATATATAGTTATATA TTTATATATATTTATATATATTTATATATATATTTATATATTTATTTATA TATATTTATATATGTATTTATATATATTTATATATATTTATATGTATTTA TATATATTTATATATATTTATATATATATATATAAATATATTTATATATA TAAATATAAATATTTATATATATTTATATATATTTATATATATATTTATG TATATTTATATATATTTATATATATATTTATGTATATTTATATATGTATT TAT		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
MUC5B_chr11_1218066_1267172	1251000	C C	CAAGGTCG others(824): Show CAAGGTCGACCACCATGGCCACCACACAGGGGCGGTCCCTGCCCCCCAGC AGTCCCCACACGGTGCCCACAGCCTGGACTTCGGCCACCTCGGGCATCTT GGGCACCACCCACATCACAGAGCCTTCCACGGGGACTTCCCACACCCCAG CAGCAACCACCGGTACCACCCAGCACTCGACTCCAGCCCTGTCCAGCCCT CACCCTAGCAGCAGGACCACCGAGTCACCCCCTTCTCCAGGGACGACCAC CCCGGGCCACACCACGGCCACCTCCAGGACCACGGCCACGGCCACACCCA GCAAGACCCGCACCTCGACCCTGCTGCCCAGCAGCCCCACATCGGCCCCC ATAACCACGGTGGTGACCACGGGCTGTGAGCCCCAGTGTGCCTGGTCAGA GTGGCTGGACTACAGCTACCCCATGCCGGGGCCCTCTGGGGGGGACTTTG ACACCTACTCCAACATCCGTGCGGCCGGAGGGGCCGTCTGTGAGCAGCCC CTGGGCCTCGAGTGCCGTGCCCAGGCCCAGCCTGGTGTCCCCCTGCGGGA GTTGGGCCAGGTCGTGGAATGCAGCCTGGACTTTGGCCTGGTCTGCAGGA ACCGTGAGCAGGTGGGGAAGTTCAAGATGTGCTTCAACTATGAAATCCGC GTGTTCTGCTGCAACTACGGCCACTGCCCCAGCACCCCTGCCACCAACTC TACGGCCACGCCCTCCTCCACTCCAGGGACGACCTGGATCCTCACAGAGC AGACCACAGCAGCCACTACGACCACAACCACTGGATCCACGGCCATCCCG TCCTCCACCCCGGGAACAGCTCCCCCTCCCAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03130.hp1 HG03130.hp1	a0046 a0046	a0046c0111 a0046c0111	a0046c0111t0003 a0046c0111t0003	a0046c0111t0003g0173 a0046c0111t0003g0173	1	350	0.0029	831	c.141 others(842): Show c.14121_14122insAGGTCGACCACCATGGCCACCACACAGGGGCGGT CCCTGCCCCCCAGCAGTCCCCACACGGTGCCCACAGCCTGGACTTCGGCC ACCTCGGGCATCTTGGGCACCACCCACATCACAGAGCCTTCCACGGGGAC TTCCCACACCCCAGCAGCAACCACCGGTACCACCCAGCACTCGACTCCAG CCCTGTCCAGCCCTCACCCTAGCAGCAGGACCACCGAGTCACCCCCTTCT CCAGGGACGACCACCCCGGGCCACACCACGGCCACCTCCAGGACCACGGC CACGGCCACACCCAGCAAGACCCGCACCTCGACCCTGCTGCCCAGCAGCC CCACATCGGCCCCCATAACCACGGTGGTGACCACGGGCTGTGAGCCCCAG TGTGCCTGGTCAGAGTGGCTGGACTACAGCTACCCCATGCCGGGGCCCTC TGGGGGGGACTTTGACACCTACTCCAACATCCGTGCGGCCGGAGGGGCCG TCTGTGAGCAGCCCCTGGGCCTCGAGTGCCGTGCCCAGGCCCAGCCTGGT GTCCCCCTGCGGGAGTTGGGCCAGGTCGTGGAATGCAGCCTGGACTTTGG CCTGGTCTGCAGGAACCGTGAGCAGGTGGGGAAGTTCAAGATGTGCTTCA ACTATGAAATCCGCGTGTTCTGCTGCAACTACGGCCACTGCCCCAGCACC CCTGCCACCAACTCTACGGCCACGCCCTCCTCCACTCCAGGGACGACCTG GATCCTCACAGAGCAGACCACAGCAGCCACTACGACCACAACCACTGGAT CCACGGCCATCCCGTCCTCCACCCCGGGAACAGCTCCCCCTCCCAAA	p.Pro others(846): Show p.Pro4707_Val4708insArgSerThrThrMetAlaThrThrGlnGly ArgSerLeuProProSerSerProHisThrValProThrAlaTrpThrSe rAlaThrSerGlyIleLeuGlyThrThrHisIleThrGluProSerThrG lyThrSerHisThrProAlaAlaThrThrGlyThrThrGlnHisSerThr ProAlaLeuSerSerProHisProSerSerArgThrThrGluSerProPr oSerProGlyThrThrThrProGlyHisThrThrAlaThrSerArgThrT hrAlaThrAlaThrProSerLysThrArgThrSerThrLeuLeuProSer SerProThrSerAlaProIleThrThrValValThrThrGlyCysGluPr oGlnCysAlaTrpSerGluTrpLeuAspTyrSerTyrProMetProGlyP roSerGlyGlyAspPheAspThrTyrSerAsnIleArgAlaAlaGlyGly AlaValCysGluGlnProLeuGlyLeuGluCysArgAlaGlnAlaGlnPr oGlyValProLeuArgGluLeuGlyGlnValValGluCysSerLeuAspP heGlyLeuValCysArgAsnArgGluGlnValGlyLysPheLysMetCys PheAsnTyrGluIleArgValPheCysCysAsnTyrGlyHisCysProSe rThrProAlaThrAsnSerThrAlaThrProSerSerThrProGlyThrT hrTrpIleLeuThrGluGlnThrThrAlaAlaThrThrThrThrThrThr GlySerThrAlaIleProSerSerThrProGlyThrAlaProProProLy s	MUC5B	ENSG00000117983.17	transcript	ENST00000529681.5	protein_coding	31/49	14180/17911	14122/17289	4708/5762		INFO_REALIGN_3_PRIME	chr11	TogoVar
NXN_chr17_794310_984776	952378	G G	GGTCAGAG others(824): Show GGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGGGTCAG ACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGG GGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGAC GGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGG CAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCA AGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGG AGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTAC CACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGA CCAAGGTTGCAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGC TGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCA CACTGTGGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGG TACCACGGACGGTCACACTGTGGGGGGCTGGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	242	0.0041	831	c.360 others(850): Show c.360+26940_360+26941insTCCAGCCCCCCACAGTGTGACCGTCC GTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTGCAA CCTTGGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCC CCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGT CTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTC CAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGG TACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCACAGT GTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCC AGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTG GTCTGTCTGACCCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACAGTGTGACC GTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCC CCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCT CTGAC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
PARP10_chr8_143972158_143991460	143981916	T T	TGGTGGTG others(824): Show TGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGAC GACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGT GGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTG GTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGA TGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGAC GACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGT GGTGAAGGTGATGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATG GTGATGGTGATGATGATGAGTGGGGATGATGGTGGTGATGGTGACTGTTG TGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGACAGTGAGTGGT GAGGGTCATGGTGATGGTGATGATGATGATGAGTGGGGATGATTATGGTG ATGGTGGTGGTGATGGTGATTGTTGTGATGGTGATGGTGGTGATGACAGT GAGTGGTGAGGGTCATGGTGATGGTGATGGTGATGATGATGAGTGGGGAT GATTATGGTGATGGTGGTGGTGATGGTGACTGTTGTAATGGTGATGGTGG TGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGAT GGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATG AGTGGGGATGGTGGTGATGGTGACTGTTGTGATGGTGATGGTGGTGATGG TGATGGTGGTGGTGACGACAGTGAGTGGTGAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0211 a0002c0002t0003g0211	1	380	0.0026	831	c.255 others(850): Show c.2556+1015_2556+1016insTTCACCACTCACTGTCGTCACCACCA CCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCACCATC CCCACTCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATC ACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCA CCATCACCACCATCACCATTACAACAGTCACCATCACCACCACCATCACC ATAATCATCCCCACTCATCATCATCACCATCACCATCACCATGACCCTCA CCACTCACTGTCATCACCACCATCACCATCACAACAATCACCATCACCAC CACCATCACCATAATCATCCCCACTCATCATCATCATCACCATCACCATG ACCCTCACCACTCACTGTCATCACCACCACCATCACCATCACCACCATCA CCATCACAACAGTCACCATCACCACCATCATCCCCACTCATCATCATCAC CATCACCATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACC TTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTC ACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCA CCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCAT CACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACC TTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTC ACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCA CCACC		PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10						chr8	TogoVar
PARP10_chr8_143972158_143991460	143981916	T T	TGGTGGTG others(824): Show TGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGAC GACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGT GGTGAAGGTGGTGGTGATGTTGGTGGTGACGACAGTGAGTGGTGAAGGTG GTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGA TGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGAC GACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGT GGTGAAGGTGATGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATG GTGATGGTGATGATGATGAGTGGGGATGATGGTGGTGATGGTGACTGTTG TGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGACAGTGAGTGGT GAGGGTCATGGTGATGGTGATGATGATGATGAGTGGGGATGATTATGGTG ATGGTGGTGGTGATGGTGATTGTTGTGATGGTGATGGTGGTGATGACAGT GAGTGGTGAGGGTCATGGTGATGGTGATGGTGATGATGATGAGTGGGGAT GATTATGGTGATGGTGGTGGTGATGGTGACTGTTGTAATGGTGATGGTGG TGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGAT GGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATG AGTGGGGATGGTGGTGATGGTGACTGTTGTGATGGTGATGGTGGTGATGG TGATGGTGGTGGTGACGACAGTGAGTGGTGAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19240.hp2 HG03579.hp1 NA19240.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0305 a0002c0008t0003g0306 a0002c0008t0003g0305 a0002c0008t0003g0306	2	380	0.0053	831	c.255 others(850): Show c.2556+1015_2556+1016insTTCACCACTCACTGTCGTCACCACCA CCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCACCATC CCCACTCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATC ACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCA CCATCACCACCATCACCATTACAACAGTCACCATCACCACCACCATCACC ATAATCATCCCCACTCATCATCATCACCATCACCATCACCATGACCCTCA CCACTCACTGTCATCACCACCATCACCATCACAACAATCACCATCACCAC CACCATCACCATAATCATCCCCACTCATCATCATCATCACCATCACCATG ACCCTCACCACTCACTGTCATCACCACCACCATCACCATCACCACCATCA CCATCACAACAGTCACCATCACCACCATCATCCCCACTCATCATCATCAC CATCACCATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACC TTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTC ACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCA CCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCAT CACCACCACCTTCACCACTCACTGTCGTCACCACCAACATCACCACCACC TTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTC ACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCA CCACC		PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10						chr8	TogoVar
PCSK6_chr15_101298933_101494707	101311686	C C	CCCCTCAC others(824): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CACCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACACCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATC GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACACCCTCACAGCCCACCCCATCGTCACA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0176 a0001c0002t0001g0176	1	336	0.0030	831	c.269 others(850): Show c.2699+1689_2699+1690insTGTGACGATGGGGTGGGCTGTGAGGG TGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAG GGTGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGA GGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGA GGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGA GGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGA GGGGTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTG AGGGTGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGT GAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGT GAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGT GAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGT GAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGT GAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGT GAGGG		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21						chr15	TogoVar
PRKX_chrX_3599340_3718649	3639306	T T	TGGATGGA others(824): Show TGGATGGATGAAGGGTGGGTGGATGGATGATTGAATGAAGGGGTGGGGAT GGATGAAGGGGTGGGGGGGTGGGTGCATGGATGGATGAAGGGGTGGGGGT GGATGGATGAAGGGGTGGGGGGGTCGGGGGGTGGATGGATGAAGGGTGGG TGGATGGATGATTGAATGAAGGGGTGGGGATGGATGAAGGGGTGGGGGGG TGGGTGCATGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGG GGGGTCGGGGGGTGGATGGATGAAGGGTGGGTGGATGGATGATTGAATGA AGGGGTGGGGATGGATGAAGGGGTGGGGGGGTGGGTGCATGGATGGATGA AGGGGTGGGGGTGGATGGATGAAGGGGTGGGGGGGTCGGGGGGTGGATGG ATGAAGGGTGGGTGGATGGATGATTGAATGAAGGGGTGGGGATGGATGAA GGGGTGGGGGGGTGGGTGCATGGATGGATGAAGGGGTGGGGGTGGATGGA TGAAGGGGTGGGGGGGTCGGGGGGTGGATGGATGAAGGGTGGGTGGATGG ATGATTGAATGAAGGGGTGGGGATGGATGAAGGGGTGGGGGGGTGGGTGC ATGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGGGGTCG GGGGGTGGATGGATGAAGGGTGGGTGGATGGATGATTGAATGAAGGGGTG GGGATGGATGAAGGGGTGGGGGGGTGGGTGCATGGATGGATGAAGGGGTG GGGGTGGATGGATGAAGGGGTGGGGGGGTCGGGGGGTGGATGGATGAAGG GTGGGTGGATGGATGATTGAATGAAGGGGTGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0077 a0001c0008t0077	a0001c0008t0077g0089 a0001c0008t0077g0089	1	227	0.0044	831	c.719 others(848): Show c.719+2545_719+2546insCCACCCCTTCATTCAATCATCCATCCAC CCACCCTTCATCCATCCACCCCCCGACCCCCCCACCCCTTCATCCATCCA CCCCCACCCCTTCATCCATCCATGCACCCACCCCCCCACCCCTTCATCCA TCCCCACCCCTTCATTCAATCATCCATCCACCCACCCTTCATCCATCCAC CCCCCGACCCCCCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCAT CCATGCACCCACCCCCCCACCCCTTCATCCATCCCCACCCCTTCATTCAA TCATCCATCCACCCACCCTTCATCCATCCACCCCCCGACCCCCCCACCCC TTCATCCATCCACCCCCACCCCTTCATCCATCCATGCACCCACCCCCCCA CCCCTTCATCCATCCCCACCCCTTCATTCAATCATCCATCCACCCACCCT TCATCCATCCACCCCCCGACCCCCCCACCCCTTCATCCATCCACCCCCAC CCCTTCATCCATCCATGCACCCACCCCCCCACCCCTTCATCCATCCCCAC CCCTTCATTCAATCATCCATCCACCCACCCTTCATCCATCCACCCCCCGA CCCCCCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCATCCATGCA CCCACCCCCCCACCCCTTCATCCATCCCCACCCCTTCATTCAATCATCCA TCCACCCACCCTTCATCCATCCACCCCCCGACCCCCCCACCCCTTCATCC ATCCACCCCCACCCCTTCATCCATCCATGCACCCACCCCCCCACCCCTTC ATCCATCCCCACCCCTTCATTCAATCATCCATCCACCCACCCTTCATCCA TCC		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8						chrX	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(824): Show CCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCA CCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCC CCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTC TCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCC ACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCT CTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCT CTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCT CCACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCC CTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCT CTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCT GTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	227	0.0044	831	c.23 others(842): Show c.2397_*2398insCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTC CCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTG TCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCC CCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTC TGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCT CCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCC TCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2117		chr19	TogoVar
RASA3_chr13_113972783_114137623	114044335	C C	CCCCGCCC others(824): Show CCCCGCCCCGCCTCACTCGCTGAGCTCCCCCGCCCCGCCTCACTCGCTGA GCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCG CTGAGCTCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCGCCTCACTCG CTGAGCCCCCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGC TGAGCTCCCCCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCG CTGAGCTCCCCCCCGCGTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCG CTGAGCTCCCCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCG CTGAGCTCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTC ACTCGCTGAGCCCCCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCA CTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGC CTCACTCGCTGAGCTCCCCCCCCCGCCTCACTCGCTGAGCCCCCCCGCCC CGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCC CCCGCCTCACTCGCTGAGCTCCCCCCCCCGCCTCACTCGCTGAGCCCCCC CGCCCCGCCTCACTCGCTGAGCCCCCCCCGCCCCCCCCCGCCCCGCCTCA CTCGCTGAGCTCCCCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTC ACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCG CCTCACTCGCTGAGCCCCCCCACCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0063 a0001c0007t0002g0063	1	67	0.0149	831	c.278 others(848): Show c.278-3242_278-3241insCGGGGGGGGGTGGGGGGGCTCAGCGAGT GAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGC GAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGGGGAGCTCAG CGAGTGAGGCGGGGCGGGGGGGGGCGGGGGGGGCTCAGCGAGTGAGGCGG GGCGGGGGGGCTCAGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAGTGAGG CGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGA GGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGGGGGGAGCTCAGCGAG TGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAG CGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGGGGGCTCAGC GAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGAGC TCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGGGGAGC TCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGACGCGGGGGGGAGC TCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGGGGGAG CTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGGGGGC TCAGCGAGTGAGGCGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGAGC TCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGG GGGCTCAGCGAGTGAGGCGGGGCGGGGGAGCTCAGCGAGTGAGGCGGGGC GGG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23						chr13	TogoVar
SCHIP1_chr3_159268244_159902359	159680730	A A	AATATACA others(824): Show AATATACATATATAATATATGTATATATATAATATACATATATAATATAT GTGTATATATAATATACATATATAATATATGTGTATATATAATATACATA TATAATATATGTGTATATATAATATACATATATAATATATGTGTATATAT AATATACATATATAATATATGTGTATATATAATATACATATATAATATAT GTATATATAATATACATATATAATATATGTATTATATATATACATATATA ATATATGTATATATAATATACATATATAATATATGTATATATATAATATA CATATATAATATATGTATATATATAATATACATATATAATATATGTATAT ATATAATATACATATATAATATATGTATATATATAATATACATATATAAT ATATGTATATATATAATATACATATATAATATATGTATATATATAATATA CATATATAATATATGTATATATATAATATACATATATAATATATGTATAT ATATATAATACATATATAATATATGTATTATATATATACATATATAATAT ATGTGTATATATAATATACATATATAATATATGTGTATATATAATATACA TATATAATATATGTATATATATAATATACATATATAATATATGTATATAT ATAATATACATATATAATATATGTATATATATAATATACATATATAATAT ATGTATATATATAATATACATATATAATATATGTATATATATAATATACA TATATAATATATGTATATATATAATATACATATATAATATATGTATATAT ATAATATACATATATAATATATGTATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 NA19030.hp2 HG01167.hp2 HG01169.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030	3	100	0.0300	831	c.64- others(848): Show c.64-83693_64-83692insTATATATATAATATACATATATAATATA TGTGTATATATAATATACATATATAATATATGTGTATATATAATATACAT ATATAATATATGTGTATATATAATATACATATATAATATATGTGTATATA TAATATACATATATAATATATGTGTATATATAATATACATATATAATATA TGTATATATAATATACATATATAATATATGTATTATATATATACATATAT AATATATGTATATATAATATACATATATAATATATGTATATATATAATAT ACATATATAATATATGTATATATATAATATACATATATAATATATGTATA TATATAATATACATATATAATATATGTATATATATAATATACATATATAA TATATGTATATATATAATATACATATATAATATATGTATATATATAATAT ACATATATAATATATGTATATATATAATATACATATATAATATATGTATA TATATATAATACATATATAATATATGTATTATATATATACATATATAATA TATGTGTATATATAATATACATATATAATATATGTGTATATATAATATAC ATATATAATATATGTATATATATAATATACATATATAATATATGTATATA TATAATATACATATATAATATATGTATATATATAATATACATATATAATA TATGTATATATATAATATACATATATAATATATGTATATATATAATATAC ATATATAATATATGTATATATATAATATACATATATAATATATGTATATA TATAATATACATATATAATATATGTATATATATATATACATATATAATAT ATG		SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
SUFU_chr10_102498972_102638535	102637435	T T	TTATATAT others(824): Show TTATATATTATATAACTATATATTATATATAATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATAATATATATATTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATAATATATATATTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTTTATATTATATAACTATATATAATATATAATATATATATTTTATAT TATATAACTATATATTATATATAATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	268	0.0037	831	c.72 others(842): Show c.7280_*7281insTATATATTATATAACTATATATTATATATAATAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTTTATATTATATAACTATATATAATATATAAT ATATATATTTTATATTATATAACTATATATTATATATAATATATAAC		SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding					3901		chr10	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(824): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAATATATATCAT ATATATTCATATATTGTATAAAAATATATATATCATATATATTTATATAT TATATAAAAATATATATATCATATATATTATATTATATATTATATATTTA TATTTTATTTTTATATTTATATTATATATATATTTTTATATTTATATTTA TATATTATTATATTATATTTATATATTATATAAAAATATATATCATATAT ATTTATATATTATATAAAAATATATATCATATATATTTATATATTATATA AAAATATATATCATATATATTTATATATTATATAAAAATATATATCATAT ATATTTATATATTATATAAAAATATATATCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATATTTATATATTATATAAAAATATATATCATATATATTTATATATTA TATAAAAATATATATCATATATATTTATATATTAAAAATATATATCATAT ATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATA TATATCATATATATTTATATATTAAAAATATATATCATATATATTTATAT ATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCATAT ATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATA TATATCATATATATTTATATATTAAAAATATATATCATATATATTTATAT ATTAAAAATATATATCATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0017 a0002c0006t0007g0017	1	128	0.0078	831	c.143 others(852): Show c.1437+28933_1437+28934insGTATAAAATATATATCATATATAT TCATATATTGTATAAAAATATATATATCATATATATTTATATATTATATA AAAATATATATATCATATATATTATATTATATATTATATATTTATATTTT ATTTTTATATTTATATTATATATATATTTTTATATTTATATTTATATATT ATTATATTATATTTATATATTATATAAAAATATATATCATATATATTTAT ATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAATA TATATCATATATATTTATATATTATATAAAAATATATATCATATATATTT ATATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTATATAAAAATATATATCATATATAT TTATATATTATATAAAAATATATATCATATATATTTATATATTATATAAA AATATATATCATATATATTTATATATTAAAAATATATATCATATATATTT ATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATC ATATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAA AATATATATCATATATATTTATATATTAAAAATATATATCATATATATTT ATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATC ATATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAA AATATATATCATATATATTTATATATTAAAAATATATATCATATATATTT ATATATT		TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS2_chr21_41459305_41513158	41474830	A A	AGTAAGGA others(824): Show AGTAAGGAGGTGAGGGGGTGAGTGAGGGGGTGGGTGAGGGGTGGGTGAGG GGATGAGGGAGTGATTCAGAGGGTGAAGGGGTGAGTGAGGGAGTGAAGGC ATGATTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGACTGAGGGGTGAAGG GGGGAGTGAGGAGGAGAGTGAGGGGGTGAAGGCATGAGTGAGGGGGTGAA TGGGTGAGAGACGGGGTGAGTGAGGGGTGAAGGGATGAATGAGGGGGTAA GTAAGGGGTTGAGGGGGTGAGGGGGTGAGTGAGGAGGTGAAGGGTGAGTG AGGGCGTGAGGGGGTGAGGGAGTGAGGGATTAGTGAGGGGGTGAGGGGTT GAGTGAGGAGGTGAGCAGGTGGGTGAGTGGATGAAGGGGTGAGTGAGGGG GGTGAGGGGTGAATGAGGGGTTGAGTAGGGGGTGAGTGAGGAGGTGAGGT GGTGAGTGAGGGGGGTGAAGGGTGAGTGAGGGGGTGAGGAGGTGAGTGAG GGGGTGACGGGGTGGGGTGAGGGAGGGATGAGGGGGAGAGTGAGGAGGTG AGGAGGTGAGTGAGGGTTGAGGGAGTGAGGGGGGTGAGTGAGGGGGCGAA GGGGTGAGTGAGGGGGTGAGGGGGGTGAAGGCGTGAGTGAGGGGGTAAGG GGATGAGTGAGGGGGTGAGGGGGTGAGGGGTGAGTGAGGGGGCGAGGGGG TGAGTGAGGGGGCGAGGGGGGTGAGTGAGGGGGCGAGGGGGTGAGTGAGG AGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGG GTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0325 a0001c0002t0001g0325	1	382	0.0026	831	c.728 others(848): Show c.728-1335_728-1334insCTCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCGCCCCCTCACTCACCCCCCTCGCCCCCTCA CTCACCCCCTCGCCCCCTCACTCACCCCTCACCCCCTCACCCCCTCACTC ATCCCCTTACCCCCTCACTCACGCCTTCACCCCCCTCACCCCCTCACTCA CCCCTTCGCCCCCTCACTCACCCCCCTCACTCCCTCAACCCTCACTCACC TCCTCACCTCCTCACTCTCCCCCTCATCCCTCCCTCACCCCACCCCGTCA CCCCCTCACTCACCTCCTCACCCCCTCACTCACCCTTCACCCCCCTCACT CACCACCTCACCTCCTCACTCACCCCCTACTCAACCCCTCATTCACCCCT CACCCCCCTCACTCACCCCTTCATCCACTCACCCACCTGCTCACCTCCTC ACTCAACCCCTCACCCCCTCACTAATCCCTCACTCCCTCACCCCCTCACG CCCTCACTCACCCTTCACCTCCTCACTCACCCCCTCACCCCCTCAACCCC TTACTTACCCCCTCATTCATCCCTTCACCCCTCACTCACCCCGTCTCTCA CCCATTCACCCCCTCACTCATGCCTTCACCCCCTCACTCTCCTCCTCACT CCCCCCTTCACCCCTCAGTCACCCCCTCACTCACCCCTTCACCCCCTCAA TCATGCCTTCACTCCCTCACTCACCCCTTCACCCTCTGAATCACTCCCTC ATCCCCTCACCCACCCCTCACCCACCCCCTCACTCACCCCCTCACCTCCT TAC		TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13						chr21	TogoVar
TUBB2B_chr6_3219277_3232653	3222288	T T	TCACCATC others(824): Show TCACCATCATCACCACCACCACCACCACCACTACCACTACCACCATCATA ATTACCACCACCATCACCACCACCACCACCACTATCACCATCATCACCAC CACCACCACCACCACTAGCACAACCACAACACTACCACATCACCACCACC ACTACCACTACTACCATCACCATCACCACCACCATCACCACCACCACCAC AATACTACCACATCACCACCACGATCACCATCATCACCACCACCACCACC ACTAGCACAACCACAACACTACCACATCACCACCACCACTACCACCACCA CCACCATCACTACTACCATCACCACCACCACCACCATCACCACCACCACG ACCACCACAACACTACCACATCACCACCACCACCATCACCATCGCCACCA TCACCACCACATCACCACCACCACCACCACTACTACCACCACCACCACCA TCACCACTACTACCATCACCACTACCACTACCACCATCACAATCACCACC ACCATCACCACCACCACCATCACCACCATCACCACCACCACTACCACCAC CACCATCACCATCATCACCACCACCACCAACACTACTGCCACCACCACTA TTACCATCACCACCACTACTACCACCACCACTACCATAACCACCATCATC ACCATCACCATCATTACTGCTATTATGACCACCATCACTACCACCATTAT CACCACCACCACTAAACTACCACCACTACCTCACTGCCATCATCACCATC ACCATTACTAACATCACCATTACTAACATCACCATTATAATACTACCACC ATCACTACCACCACCACCACCACCACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02922.hp1 HG03130.hp1 others(2): Show HG02451.hp2 HG02922.hp1 HG03130.hp1 HG03579.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	5	360	0.0139	831	c.24 others(842): Show c.2462_*2463insGTGATGGTGGTGGTGGTGGTGGTGGTAGTGATGG TGGTAGTATTATAATGGTGATGTTAGTAATGGTGATGTTAGTAATGGTGA TGGTGATGATGGCAGTGAGGTAGTGGTGGTAGTTTAGTGGTGGTGGTGAT AATGGTGGTAGTGATGGTGGTCATAATAGCAGTAATGATGGTGATGGTGA TGATGGTGGTTATGGTAGTGGTGGTGGTAGTAGTGGTGGTGATGGTAATA GTGGTGGTGGCAGTAGTGTTGGTGGTGGTGGTGATGATGGTGATGGTGGT GGTGGTAGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGG TGGTGATTGTGATGGTGGTAGTGGTAGTGGTGATGGTAGTAGTGGTGATG GTGGTGGTGGTGGTAGTAGTGGTGGTGGTGGTGGTGATGTGGTGGTGATG GTGGCGATGGTGATGGTGGTGGTGGTGATGTGGTAGTGTTGTGGTGGTCG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTAGTAGTGATGGTGGTG GTGGTGGTAGTGGTGGTGGTGATGTGGTAGTGTTGTGGTTGTGCTAGTGG TGGTGGTGGTGGTGATGATGGTGATCGTGGTGGTGATGTGGTAGTATTGT GGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTAGTAGTGGTAGTGG TGGTGGTGATGTGGTAGTGTTGTGGTTGTGCTAGTGGTGGTGGTGGTGGT GGTGATGATGGTGATAGTGGTGGTGGTGGTGGTGATGGTGGTGGTAATTA TGATGGTGGTAGTGGTAGTGGTGGTGGTGGTGGTGGTGATGATGGTG		TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding					1988		chr6	TogoVar
ABCB11_chr2_168915781_169036324	168975305	A A	ATATATTT others(825): Show ATATATTTATAGATAAATATATAAATATATAGATATATATTTATAGATAA ATATATATATATAAATATTTATATATTTATAGATAAACGTATAAATATTT ATATATTTATAGATAAACGTATAAATATTTATATATTTATAGATAAACGT ATAAATATTTATATATTTATAGATAAACGTATAAATATTTATATATTTAT AGATAAACGTATAAATATTTATATATTTATAGATAAACGTATAAATATTT TTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGT ATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTAT AGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTT TTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGT ATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTAT AGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTT TTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGT ATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTAT AGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTT TTATATTTATAGATAAACGTATAAGTATTTTTATATTTATAGATAAACGT ATAAGTATTTTTATATTTATAGATATATAAATATATAAATATTTTTATAT TTATAGATAAATATATAAATATATAAATATTTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	306	0.0033	832	c.130 others(851): Show c.1308+1271_1308+1272insAAAATATTTATATATTTATATATTTA TCTATAAATATAAAAATATTTATATATTTATATATCTATAAATATAAAAA TACTTATACGTTTATCTATAAATATAAAAATACTTATACGTTTATCTATA AATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTATACG TTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAA TATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATA AATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTATACG TTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAA TATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATA AATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTATACG TTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAA TATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATA AATATAAAAATATTTATACGTTTATCTATAAATATATAAATATTTATACG TTTATCTATAAATATATAAATATTTATACGTTTATCTATAAATATATAAA TATTTATACGTTTATCTATAAATATATAAATATTTATACGTTTATCTATA AATATATAAATATTTATACGTTTATCTATAAATATATAAATATTTATATA TATATATTTATCTATAAATATATATCTATATATTTATATATTTATCTATA AATATA		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	AGACCCAC others(825): Show AGACCCACACACCCATACACACACCAGACCCCCACACCCCCACACCCATA CACACACACCCACACCCACACCCACCACACACACCCACACCCCCACACAC ACCCTCCCACCCCCACACACACACATACCCCCACCACACACCCACACACC CCCTCACACACCCACACCCACCACACACCCCCACCACACACCCACATACA CCCACACCCCCACCACACACCCATACACACACCCCCACATACTAATACAC ACACACCCCCACACCCTCCCACCCCCCCACACCCCCACCACACACCAATA CACACCCACACACCCCCTCACACACACACCCACACACCCATACACACACC CACCACACACCCATACATACAAACCCCCACACCCCCTCACACCCTCCCCC CACTCACCCATACACAACCCCCACCACACCCCCACACCCATACACACACA CCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCCTCCC CCCACTCACCCATACACAACCCCCACCACACCCCCACACCCATACACACA CACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCC TCCCCCCCACACACCCATACACACACCCCCACACCCCCACCACACCCATA CACACACACCCGTACCCCCTCACACCCTCCCCCCACACACCCATCCCCAC CACACACCCATACACACACACCCACACACACACCACACCCATACACACAC ATACCCCCACACCCCCACACACACCCTCCCTCACACACACCCCCACCACA CACCCATACACACCCCAACCCCCCCCACACACC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0010 a0003c0008t0010	a0003c0008t0010g0214 a0003c0008t0010g0214	1	248	0.0040	832	c.387 others(851): Show c.3871-3767_3871-3766insGGTGTGTGGGGGGGGTTGGGGTGTGT ATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGTG GGGGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGG GTGTGTGGTGGGGATGGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGT GTGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTGTG GGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGG GGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGGT GAGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTG GTGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGG GTGAGTGGGGGGAGGGTGTGAGGGGGTGTGGGGGTTTGTATGTATGGGTG TGTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGTGTGT GGGTGTGTATTGGTGTGTGGTGGGGGTGTGGGGGGGTGGGAGGGTGTGGG GGTGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTGGGG GTGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGGTGT GTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGTGGGGGTG GGAGGGTGTGTGTGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTGTGGGT GTGTGTGTATGGGTGTGGGGGTGTGGGGGTCTGGTGTGTGTATGGGTGTG TGGGTC		ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30						chr13	TogoVar
ABCC6_chr16_16144565_16228494	16172057	A A	ATAAATGA others(825): Show ATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGA ATGGGTGGGATGCATAAATGAGTGAGTGGGATGGATAAATGGGTGGGTGG GATGGATAAATGAGTGGGTGGGATGCATAAATGAGTGAGTGGGATGGATA AATGGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTG GGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGAGGTGGGATGGA TAAATGAGTGGGTGGGATAGATAAATGAGTGGGTGGGATGGATAAATGAG GGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGG TGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGG ATAAATGAGTGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAA ATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGG GTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATG GATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATA AATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTG GGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGAT GGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGCTAAAT GAGTGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGT GGGTGGGATGGATAAATGGGTGGGTGGGATGGC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0290 a0001c0006t0001g0290	1	357	0.0028	832	c.278 others(851): Show c.2787+1226_2787+1227insGCCATCCCACCCACCCATTTATCCAT CCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCA CCCACTCATTTAGCCATCCCACCCACTCATTTAGCCATCCCACCCACCCA TTTATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTAGCCA TCCCACCCACTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCC ACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTT ATCCATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTAGCC ATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACC CACTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCACT CATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATC CATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCATC CCACCCCCTCATTTATCCATCCCACCCACTCATTTATCTATCCCACCCAC TCATTTATCCATCCCACCTCATTTATGCATCCCACCCACTCATTTATGCA TCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCCACCC ACCCATTTATCCATCCCACTCACTCATTTATGCATCCCACCCACTCATTT ATCCATCCCACCCACCCATTTATCCATCCCACTCACTCATTTATGCATCC CACCCATTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACT CATTTA		ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30						chr16	TogoVar
ACAP3_chr1_1287391_1312930	1289872	T T	TCCCGTGT others(825): Show TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTGTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	295	0.0034	832	c.36 others(843): Show c.3691_*3692insGGACGGGGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCA GAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGG ACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCA GAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGG ACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACA CGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAG CAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACG GGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGGG CAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGAC GGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCA GACACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGAC GGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACA CGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGG		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2518		chr1	TogoVar
ACSF3_chr16_89088852_89161233	89158196	A A	ACACGCCT others(825): Show ACACGCCTGGATAAGTCACATGTATGTGTCTCACGCCTGCATACACCACA GGTATGTATGTCTCACGCCTGCATATGTCACATGTATGTGTATCTCACAC GCCTGCATATGTCACATGTATGTGTATCTCACACGCCTGCATATGTCACA TGTATGTGTATCTCACACGCCTGCATACACCACAGGTATGTATGTCACAC GCCTGCATATGTCACATGTATGTGTCTCACACGCCTGCATAAGTCACATG CATGTGTGTCTCACGCCTGCATACACCACAGGTATGTATCTCATGCCTGC ATATGTCACATGTATGTATCTCACACGCCTGCATATGTCACATGCATGTG TATCTCACATGCCTGCATATGTCACATGTATGTGTATCTCACATGCCTGC ATACACCACAGGTATGTATGTCTCACGCCTGCATATGTCACATGTATGTG TGTCTCACACGCCTGCATAAGTCACATGCATGTGCGTCTCACACACCTGC ATACACCACAGGTATGTAAGTCACACGCCTGCATGTCACATGTGTCTCAC ACGCCTACATGTGTCACATGTATGTGTATCTCACACGCCTGCATACACCA CAGGGATGTATGTCTCACGCCTGCATATGTCACATGTATGTGTATCTCAC ATGCCTGCATGTCACATGTATGTCTCACACGCCTGCATACACCACAGGTA TGTATGTCTCACGCCTGCATATGTCACATGTATGTGTATCTCACACGCCT GCATGTCACACGTATATGTCACACGCCTGCATATGTCACATGTATGTGTA TCACACACCTGCATACACCACAGGTATGTATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0007 a0003c0006t0007	a0003c0006t0007g0001 a0003c0006t0007g0106 a0003c0006t0007g0001 a0003c0006t0007g0106	3	368	0.0082	832	c.39 others(843): Show c.3989_*3990insCACGCCTGGATAAGTCACATGTATGTGTCTCACG CCTGCATACACCACAGGTATGTATGTCTCACGCCTGCATATGTCACATGT ATGTGTATCTCACACGCCTGCATATGTCACATGTATGTGTATCTCACACG CCTGCATATGTCACATGTATGTGTATCTCACACGCCTGCATACACCACAG GTATGTATGTCACACGCCTGCATATGTCACATGTATGTGTCTCACACGCC TGCATAAGTCACATGCATGTGTGTCTCACGCCTGCATACACCACAGGTAT GTATCTCATGCCTGCATATGTCACATGTATGTATCTCACACGCCTGCATA TGTCACATGCATGTGTATCTCACATGCCTGCATATGTCACATGTATGTGT ATCTCACATGCCTGCATACACCACAGGTATGTATGTCTCACGCCTGCATA TGTCACATGTATGTGTGTCTCACACGCCTGCATAAGTCACATGCATGTGC GTCTCACACACCTGCATACACCACAGGTATGTAAGTCACACGCCTGCATG TCACATGTGTCTCACACGCCTACATGTGTCACATGTATGTGTATCTCACA CGCCTGCATACACCACAGGGATGTATGTCTCACGCCTGCATATGTCACAT GTATGTGTATCTCACATGCCTGCATGTCACATGTATGTCTCACACGCCTG CATACACCACAGGTATGTATGTCTCACGCCTGCATATGTCACATGTATGT GTATCTCACACGCCTGCATGTCACACGTATATGTCACACGCCTGCATATG TCACATGTATGTGTATCACACACCTGCATACACCACAGGTATGTATGT		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding					1964		chr16	TogoVar
ACSF3_chr16_89088852_89161233	89158196	A A	ACACGCCT others(825): Show ACACGCCTGGATAAGTCACATGTATGTGTCTCACGCCTGCATACACCACA GGTATGTATGTCTCACGCCTGCATATGTCACATGTATGTGTATCTCACAC GCCTGCATATGTCACATGTATGTGTATCTCACACGCCTGCATATGTCACA TGTATGTGTATCTCACACGCCTGCATACACCACAGGTATGTATGTCACAC GCCTGCATATGTCACATGTATGTGTCTCACACGCCTGCATAAGTCACATG CATGTGTGTCTCACGCCTGCATACACCACAGGTATGTATCTCATGCCTGC ATATGTCACATGTATGTATCTCACACGCCTGCATATGTCACATGCATGTG TATCTCACATGCCTGCATATGTCACATGTATGTGTATCTCACATGCCTGC ATACACCACAGGTATGTATGTCTCACGCCTGCATATGTCACATGTATGTG TGTCTCACACGCCTGCATAAGTCACATGCATGTGCGTCTCACACGCCTGC ATACACCACAGGTATGTAAGTCACACGCCTGCATGTCACATGTGTCTCAC ACGCCTACATGTGTCACATGTATGTGTATCTCACACGCCTGCATACACCA CAGGGATGTATGTCTCACGCCTGCATATGTCACATGTATGTGTATCTCAC ATGCCTGCATGTCACATGTATGTCTCACACGCCTGCATACACCACAGGTA TGTATGTCTCACGCCTGCATATGTCACATGTATGTGTATCTCACACGCCT GCATGTCACACGTATATGTCACACGCCTGCATATGTCACATGTATGTGTA TCACACACCTGCATACACCACAGGTATGTATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG02155.hp1 others(10): Show HG00408.hp2 HG00438.hp2 HG02155.hp1 HG02523.hp2 HG02976.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 NA18968.hp2 NA18985.hp1 NA19068.hp1 NA19077.hp1	a0003 a0008 a0003 a0008	a0003c0006 a0003c0007 a0003c0008 others(1): Show a0003c0006 a0003c0007 a0003c0008 a0008c0022	a0003c0006t0007 a0003c0006t0059 a0003c0007t0007 others(2): Show a0003c0006t0007 a0003c0006t0059 a0003c0007t0007 a0003c0008t0049 a0008c0022t0007	a0003c0006t0007g0017 a0003c0006t0007g0051 a0003c0006t0007g0055 others(10): Show a0003c0006t0007g0017 a0003c0006t0007g0051 a0003c0006t0007g0055 a0003c0006t0059g0350 a0003c0007t0007g0045 a0003c0007t0007g0048 a0003c0007t0007g0049 a0003c0007t0007g0064 a0003c0007t0007g0092 a0003c0007t0007g0093 a0003c0007t0007g0094 a0003c0008t0049g0052 a0008c0022t0007g0063	13	368	0.0353	832	c.39 others(843): Show c.3989_*3990insCACGCCTGGATAAGTCACATGTATGTGTCTCACG CCTGCATACACCACAGGTATGTATGTCTCACGCCTGCATATGTCACATGT ATGTGTATCTCACACGCCTGCATATGTCACATGTATGTGTATCTCACACG CCTGCATATGTCACATGTATGTGTATCTCACACGCCTGCATACACCACAG GTATGTATGTCACACGCCTGCATATGTCACATGTATGTGTCTCACACGCC TGCATAAGTCACATGCATGTGTGTCTCACGCCTGCATACACCACAGGTAT GTATCTCATGCCTGCATATGTCACATGTATGTATCTCACACGCCTGCATA TGTCACATGCATGTGTATCTCACATGCCTGCATATGTCACATGTATGTGT ATCTCACATGCCTGCATACACCACAGGTATGTATGTCTCACGCCTGCATA TGTCACATGTATGTGTGTCTCACACGCCTGCATAAGTCACATGCATGTGC GTCTCACACGCCTGCATACACCACAGGTATGTAAGTCACACGCCTGCATG TCACATGTGTCTCACACGCCTACATGTGTCACATGTATGTGTATCTCACA CGCCTGCATACACCACAGGGATGTATGTCTCACGCCTGCATATGTCACAT GTATGTGTATCTCACATGCCTGCATGTCACATGTATGTCTCACACGCCTG CATACACCACAGGTATGTATGTCTCACGCCTGCATATGTCACATGTATGT GTATCTCACACGCCTGCATGTCACACGTATATGTCACACGCCTGCATATG TCACATGTATGTGTATCACACACCTGCATACACCACAGGTATGTATGT		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding					1964		chr16	TogoVar
ACSF3_chr16_89088852_89161233	89158196	A A	ACACGCCT others(825): Show ACACGCCTGGATAAGTCACATGTATGTGTCTCACGCCTGCATACACCACA GGTATGTATGTCTCACGCCTGCATATGTCACATGTATGTGTATCTCACAC GCCTGCATATGTCACATGTATGTGTATCTCACACGCCTGCATATGTCACA TGTATGTGTATCTCACACGCCTGCATACACCACAGGTATGTATGTCACAC GCCTGCGTATGTCACATGTATGTGTCTCACACGCCTGCATAAGTCACATG CATGTGTGTCTCACGCCTGCATACACCACAGGTATGTATCTCATGCCTGC ATATGTCACATGTATGTATCTCACACGCCTGCATATGTCACATGCATGTG TATCTCACATGCCTGCATATGTCACATGTATGTGTATCTCACATGCCTGC ATACACCACAGGTATGTATGTCTCACGCCTGCATATGTCACATGTATGTG TGTCTCACACGCCTGCATAAGTCACATGCATGTGCGTCTCACACGCCTGC ATACACCACAGGTATGTAAGTCACACGCCTGCATGTCACATGTGTCTCAC ACGCCTACATGTGTCACATGTATGTGTATCTCACACGCCTGCATACACCA CAGGGATGTATGTCTCACGCCTGCATATGTCACATGTATGTGTATCTCAC ATGCCTGCATGTCACATGTATGTCTCACACGCCTGCATACACCACAGGTA TGTATGTCTCACGCCTGCATATGTCACATGTATGTGTATCTCACACGCCT GCATGTCACACGTATATGTCACACGCCTGCATATGTCACATGTATGTGTA TCACACACCTGCATACACCACAGGTATGTATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG02040.hp1 others(7): Show HG00408.hp1 HG00673.hp1 HG02040.hp1 HG02056.hp1 NA18961.hp1 NA18985.hp2 NA18990.hp1 NA19067.hp2 NA19080.hp2 NA19083.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0007 a0003c0006t0007 a0003c0006t0048 a0002c0002t0007 a0003c0006t0007 a0003c0006t0048	a0002c0002t0007g0109 a0003c0006t0007g0044 a0003c0006t0007g0050 others(7): Show a0002c0002t0007g0109 a0003c0006t0007g0044 a0003c0006t0007g0050 a0003c0006t0007g0053 a0003c0006t0007g0054 a0003c0006t0007g0057 a0003c0006t0007g0067 a0003c0006t0007g0068 a0003c0006t0007g0069 a0003c0006t0048g0056	10	368	0.0272	832	c.39 others(843): Show c.3989_*3990insCACGCCTGGATAAGTCACATGTATGTGTCTCACG CCTGCATACACCACAGGTATGTATGTCTCACGCCTGCATATGTCACATGT ATGTGTATCTCACACGCCTGCATATGTCACATGTATGTGTATCTCACACG CCTGCATATGTCACATGTATGTGTATCTCACACGCCTGCATACACCACAG GTATGTATGTCACACGCCTGCGTATGTCACATGTATGTGTCTCACACGCC TGCATAAGTCACATGCATGTGTGTCTCACGCCTGCATACACCACAGGTAT GTATCTCATGCCTGCATATGTCACATGTATGTATCTCACACGCCTGCATA TGTCACATGCATGTGTATCTCACATGCCTGCATATGTCACATGTATGTGT ATCTCACATGCCTGCATACACCACAGGTATGTATGTCTCACGCCTGCATA TGTCACATGTATGTGTGTCTCACACGCCTGCATAAGTCACATGCATGTGC GTCTCACACGCCTGCATACACCACAGGTATGTAAGTCACACGCCTGCATG TCACATGTGTCTCACACGCCTACATGTGTCACATGTATGTGTATCTCACA CGCCTGCATACACCACAGGGATGTATGTCTCACGCCTGCATATGTCACAT GTATGTGTATCTCACATGCCTGCATGTCACATGTATGTCTCACACGCCTG CATACACCACAGGTATGTATGTCTCACGCCTGCATATGTCACATGTATGT GTATCTCACACGCCTGCATGTCACACGTATATGTCACACGCCTGCATATG TCACATGTATGTGTATCACACACCTGCATACACCACAGGTATGTATGT		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding					1964		chr16	TogoVar
ARHGEF16_chr1_3449665_3486113	3477298	T T	TCCCTGTC others(825): Show TCCCTGTCACCCCCACACTACCCACCCCCATCACCCCACAACCCACCCCC ATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCA CCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACC CCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCCA CACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCCACAC TACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCACAACCC ACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCAC CCCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCC CCATCACCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCA TCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCA CCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCC CCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCA CTACCCACCCCCATCACCCTCACTACCCATCACCCGCACACTACCCACCC CATCACCCGCACACTACCCACCCCATCACCCGCACACTACCCAGGCCCAT CACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACC CCCACGCCGCCCACCCCCATCACCCCCACGCCGCCCACCCCATCACCCCC ACGCCGCCCACCCCATCACCCCCACGCTGCCCA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0012 a0010c0025t0012	a0010c0025t0012g0292 a0010c0025t0012g0292	1	334	0.0030	832	c.147 others(849): Show c.1474-574_1474-573insTGTCACCCCCACACTACCCACCCCCATC ACCCCACAACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCC ACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCCACA CTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCCACACTAC CCACCCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCA CCCCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACC CCCATCACCCCACAACCCACCCCCATCACCCCCACACTACCCACCCCCAT CACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCA CCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCC CCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCACAC TACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCCACACTAC CCACCCCCATCACCCTCACTACCCACCCCCATCACCCTCACTACCCATCA CCCGCACACTACCCACCCCATCACCCGCACACTACCCACCCCATCACCCG CACACTACCCAGGCCCATCACCCCCACGCCGCCCACCCCATCACCCCCAC GCCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATCACCCCCACGCC GCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCTGCCC ACCC		ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
ASAP2_chr2_9201812_9410678	9406556	T T	TGACATCT others(825): Show TGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTT TGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTG TGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCT TCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTC AGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTC TTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTC TGTGACATCTCGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTC ACTGAGTGGACCTCTGTGACATCTCGGCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0160 a0002c0001t0001g0160	1	210	0.0048	832	c.32 others(843): Show c.3229_*3230insGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGT TTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCA GTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGG CCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTC CTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTC GTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGA CATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGT CACTGAGTGGACCTCTGTGACATCTCGGCTTCCTCAGGCCTTCAGTGTGT GTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCA GTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGG CCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGGCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCT TCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACA		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding					879		chr2	TogoVar
C2CD4C_chr19_400445_414147	404897	G G	GGGGGGAA others(825): Show GGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGTCCT GCCCTGAGGGGTGTGAGGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGGG GGGGGGACAGGGTCCTGCCCTGAGGGGTGTGGGGGGAACGGGGTCCTGCC CTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGGGGG GAACGGGGTCCTGCCCTCAGGGGTGTGGGGGGGACGGGGTCCTGCCTTGA GGGGTGTGGGGGAGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAAC GGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCTTGAGGGG TGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGAACGGGGT CCTGCCCTGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTG TGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAACGGGGTCC TGCCCTGAGGGGTGTGGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGG GGGGGACGGGGTCCTGCCTTGAGGGGTGTGGGGGGGACGGGGTCCTGCCC TGAGGGGTGTGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAC GGGGTCCTGCCTTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGG TCTGAGGGGGTACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGG TCCTGCCCTGAGGGGTGTGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGT GGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0097 a0001c0001t0120g0097	1	322	0.0031	832	c.21 others(843): Show c.2198_*2199insACACCCCTCAGGGCAGGACCCCATCCCCCCTCCA CACCCCTCAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAGGGCAGGAC CCCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTACCCCCTCAGAC CCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAAGGCAGGACCCCG TCCCCCCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCACACCCCTCAG GGCAGGACCCCGTCCCCCCCACACCCCTCAAGGCAGGACCCCGTCCCCCC CACACCCCTCAGGGCAGGACCCCGTTCCCCCCCCACACCCCTCAGGGCAG GACCCCGTTCCCCCCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCCAC ACCCCTCAGGGCAGGACCCCGTTCCCCCCTCCACACCCCTCAGGGCAGGA CCCCGTTCCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACAC CCCTCAAGGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCG TTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCTCCCCCACACCCCT CAAGGCAGGACCCCGTCCCCCCCACACCCCTGAGGGCAGGACCCCGTTCC CCCCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGG GCAGGACCCCGTTCCCCCCACACCCCTCAGGGCAGGACCCTGTCCCCCCC CCACACCCCTCGGGACAGGACCCCGTCCCCCCCTCACACCCCTCAGGGCA GGACCCCGTCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTTCCCCC		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					547		chr19	TogoVar
CCBE1_chr18_59425939_59702423	59473793	A A	ACCTTCCA others(825): Show ACCTTCCAACCTTCCCACTATTTCCTCCCCACTACTCATCATCCAACCCT CCCACTATTTCCTCCCCTGCTACTCACCTTCCAACCCTATTTCCTCCCCC ACTACTCACCTTCCAACCCTATTTCCTCCCCCACTACTCACCTTCCAACC CTCCCACTATTTCCTCCCCCAACTACTCACCTTCCAACCTTCCCACTATT TCCCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTAC TCACCTTCCAACCTTCCCACTATTTCCTCCCCCTACTACTCACCTTCCAA CCCTCCCACTATTTCCTCCCCCACTACTCACCTTCCAACCCTCCCACTAT TTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTCCCCCCTAC TACTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTCACCATCCA ACCCTTCCACTATTTCCCCCCCACTACTCACCATCCAACCCTCCCACTAT GTCCTCTCCCACTACTCACCTTCCAACCCTCCTATTCCCCCCACTACTAC TCACCATCCAACCCTCCCAGTACTCACCTTCCAACCCTCCCACTATTCCC CCCTACTACTCACCTTCCAACCCTTCCACTATTTCCCCACTACTACTCAC CTTCCAACCCTCCCACTATTTCCTCCCTCCAACTACTCACCTTCCAACCC TCCTACTATTCCCCCGCTACTATTCACCTTCCAACCCTCCCACTATTCCC CCACTACTGCCCACCTTCCAACCCTCCCACTATTCCCCCGCTACTACCTA CCTTCCAACCCTCCCACTATTTCCTCCCACCAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0113 a0001c0001t0004g0113	1	242	0.0041	832	c.266 others(849): Show c.266-4187_266-4186insGTGGTGGGAGGAAATAGTGGGAGGGTTG GAAGGTAGGTAGTAGCGGGGGAATAGTGGGAGGGTTGGAAGGTGGGCAGT AGTGGGGGAATAGTGGGAGGGTTGGAAGGTGAATAGTAGCGGGGGAATAG TAGGAGGGTTGGAAGGTGAGTAGTTGGAGGGAGGAAATAGTGGGAGGGTT GGAAGGTGAGTAGTAGTGGGGAAATAGTGGAAGGGTTGGAAGGTGAGTAG TAGGGGGGAATAGTGGGAGGGTTGGAAGGTGAGTACTGGGAGGGTTGGAT GGTGAGTAGTAGTGGGGGGAATAGGAGGGTTGGAAGGTGAGTAGTGGGAG AGGACATAGTGGGAGGGTTGGATGGTGAGTAGTGGGGGGGAAATAGTGGA AGGGTTGGATGGTGAGTAGTCGGGGGGAAATAGTGGGAGGGTTGGAAGGT GAGTAGTAGGGGGGAAATAGTGGGAAGGTTGGAAGGTGAGTAGTGGGGGG AGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGTGG GAGGGTTGGAAGGTGAGTAGTAGGGGGAGGAAATAGTGGGAAGGTTGGAA GGTGAGTAGTCGGGGGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGG GGGGAAATAGTGGGAAGGTTGGAAGGTGAGTAGTTGGGGGAGGAAATAGT GGGAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGGGTTGGAAGGTGA GTAGTGGGGGAGGAAATAGGGTTGGAAGGTGAGTAGCAGGGGAGGAAATA GTGGGAGGGTTGGATGATGAGTAGTGGGGAGGAAATAGTGGGAAGGTTGG AAGG		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10						chr18	TogoVar
CCBE1_chr18_59425939_59702423	59473793	A A	ACCTTCCA others(825): Show ACCTTCCAACCTTCCCACTATTTCCTCCCCACTACTCATCATCCAACCCT CCCACTATTTCCTCCCCTGCTACTCACCTTCCAACCCTATTTCCTCCCCC ACTACTCACCTTCCAACCCTATTTCCTCCCCCACTACTCACCTTCCAACC CTCCCACTATTTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATT TCCCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTAC TCACCTTCCAACCTTCCCACTATTTCCTCCCCCTACTACTCACCTTCCAA CCCTCCCACTATTTCCTCCCCCACTACTCACCTTCCAACCCTCCCACTAT TTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTCCCCCCTAC TACTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTCACCATCCA ACCCTTCCACTATTTCCCCCCCACTACTCACCATCCAACCCTCCCACTAT GTCCTCTCCCACTACTCACCTTCCAACCCTCCTATTCCCCCCACTACTAC TCACCATCCAACCCTCCCAGTACTCACCTTCCAACCCTCCCACTATTCCC CCCTACTACTCACCTTCCAACCCTTCCACTATTTCCCCACTACTACTCAC CTTCCAACCCTCCCACTATTTCCTCCCTCCAACTACTCACCTTCCAACCC TCCTACTATTCCCCCGCTACTACTCACCTTCCAACCCTCCCACTATTCCC CCACTACTGCCCACCTTCCAACCCTCCCACTATTCCCCCGCTACTACCTA CCTTCCAACCCTCCCACTATTTCCTCCCACCAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00733.hp1 others(16): Show HG00140.hp1 HG00140.hp2 HG00733.hp1 HG01069.hp1 HG01081.hp2 HG01169.hp1 HG01261.hp2 HG01517.hp1 HG01928.hp2 HG02148.hp1 HG02293.hp2 HG03239.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0049 a0001c0001t0051 a0001c0001t0067 a0006c0007t0001	a0001c0001t0001g0019 a0001c0001t0001g0057 a0001c0001t0001g0081 others(16): Show a0001c0001t0001g0019 a0001c0001t0001g0057 a0001c0001t0001g0081 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0002g0099 a0001c0001t0012g0212 a0001c0001t0014g0178 a0001c0001t0015g0210 a0001c0001t0019g0021 a0001c0001t0021g0079 a0001c0001t0021g0125 a0001c0001t0049g0216 a0001c0001t0051g0183 a0001c0001t0067g0029 a0006c0007t0001g0232	19	242	0.0785	832	c.266 others(849): Show c.266-4187_266-4186insGTGGTGGGAGGAAATAGTGGGAGGGTTG GAAGGTAGGTAGTAGCGGGGGAATAGTGGGAGGGTTGGAAGGTGGGCAGT AGTGGGGGAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGCGGGGGAATAG TAGGAGGGTTGGAAGGTGAGTAGTTGGAGGGAGGAAATAGTGGGAGGGTT GGAAGGTGAGTAGTAGTGGGGAAATAGTGGAAGGGTTGGAAGGTGAGTAG TAGGGGGGAATAGTGGGAGGGTTGGAAGGTGAGTACTGGGAGGGTTGGAT GGTGAGTAGTAGTGGGGGGAATAGGAGGGTTGGAAGGTGAGTAGTGGGAG AGGACATAGTGGGAGGGTTGGATGGTGAGTAGTGGGGGGGAAATAGTGGA AGGGTTGGATGGTGAGTAGTCGGGGGGAAATAGTGGGAGGGTTGGAAGGT GAGTAGTAGGGGGGAAATAGTGGGAAGGTTGGAAGGTGAGTAGTGGGGGG AGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGTGG GAGGGTTGGAAGGTGAGTAGTAGGGGGAGGAAATAGTGGGAAGGTTGGAA GGTGAGTAGTCGGGGGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGG GGGGAAATAGTGGGAAGGTTGGAAGGTGAGTAGTGGGGGGAGGAAATAGT GGGAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGGGTTGGAAGGTGA GTAGTGGGGGAGGAAATAGGGTTGGAAGGTGAGTAGCAGGGGAGGAAATA GTGGGAGGGTTGGATGATGAGTAGTGGGGAGGAAATAGTGGGAAGGTTGG AAGG		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10						chr18	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(825): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG03195.hp1 HG02572.hp2 HG03195.hp1	a0007 a0009 a0007 a0009	a0007c0029 a0009c0025 a0007c0029 a0009c0025	a0007c0029t0007 a0009c0025t0023 a0007c0029t0007 a0009c0025t0023	a0007c0029t0007g0130 a0009c0025t0023g0277 a0007c0029t0007g0130 a0009c0025t0023g0277	2	334	0.0060	832	c.-25 others(843): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT		CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding					2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065098	A A	ATAGTATT others(825): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAA GAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTG GTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGGTAGTATTAAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0006 a0006c0011t0006	a0006c0011t0006g0265 a0006c0011t0006g0265	1	334	0.0030	832	c.-25 others(843): Show c.-2582_-2581insCCACCTCTTAATACTACCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACC ACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCT TAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA		CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding					2233		chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(825): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTT GAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp2 HG02922.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0003 a0001c0001t0008g0003	2	336	0.0060	832	c.248 others(849): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTGG TTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGC AGTG		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(825): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTT GAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0298 a0001c0001t0009g0298	1	336	0.0030	832	c.248 others(849): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTGG TTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGC AGTG		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(825): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTT GAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03834.hp1 NA21309.hp1 others(1): Show HG02647.hp1 HG03834.hp1 NA21309.hp1 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0016 a0001c0001 a0009c0016	a0001c0001t0002 a0009c0016t0002 a0001c0001t0002 a0009c0016t0002	a0001c0001t0002g0271 a0001c0001t0002g0279 a0001c0001t0002g0289 others(1): Show a0001c0001t0002g0271 a0001c0001t0002g0279 a0001c0001t0002g0289 a0009c0016t0002g0229	4	336	0.0119	832	c.248 others(849): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGG TTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGC AGTG		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(825): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTT GAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02080.hp2 HG01175.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0233 a0001c0001t0017g0234 a0001c0001t0002g0233 a0001c0001t0017g0234	2	336	0.0060	832	c.248 others(849): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGG TTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGC AGTG		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
CLCN5_chrX_49917596_50104230	50057375	G G	GTCCTGGA others(825): Show GTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGA CTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAG GACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCC AGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTAT CCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACT ATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATA CTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGA TACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATA GATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGA TAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTG GATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCC TGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCT CCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACT CTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGA CTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAG GACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCC AGGACTCTCCTGGATAGATACTATCCAGGACTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0163 a0001c0001t0004g0163	1	175	0.0057	832	c.164 others(851): Show c.164-12182_164-12181insATACTATCCAGGACTCTCCTGGATAG ATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGAT AGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGG ATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCT GGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTC CTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTC TCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGAC TCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGG ACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCA GGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATC CAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTA TCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATAC TATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGAT ACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAG ATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGAT AGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGG ATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCT GGATAG		CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	4/14					INFO_REALIGN_3_PRIME	chrX	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(825): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCT CTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTC CTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCT CCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCC CCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18747.hp2 HG00408.hp1 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0209 a0001c0002t0006g0210 a0001c0002t0006g0209 a0001c0002t0006g0210	2	270	0.0074	832	c.162 others(853): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTC CACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCC CTCTCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCT TCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTC CCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTT CCTCCCCT		CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(825): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCA CCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCC ATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCT GTCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATCCATC CATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCAT CCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCATCCAT CTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCATCCA TCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCC ATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACCATCCATCC ATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTCATCCATCC ATCCACCATCCATCCATTCATTCATCCATCCATCCATCCATCCATCCATC CACCATCCATCCACCCATCCATCCACCATCCATCCATCCAGCATCCATCC ATCCATCTATTCATCCATCCATCCATCCATCCGTCCATCCATCCATCCAT CCTCCATCCATCCATCCATCCATCAACCATCCATCCATGCATCCATTCAT CCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp2 others(41): Show HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00741.hp2 HG01074.hp1 HG01175.hp1 HG01261.hp1 HG01952.hp1 HG01952.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp2 HG02165.hp1 HG02895.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA18961.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18983.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19064.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19087.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0014	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0014 a0001c0022 a0001c0023 a0001c0027 a0001c0032 a0001c0048 a0001c0056 a0002c0013 a0004c0029 a0004c0067 a0005c0063 a0014c0053	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0031 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0011 a0001c0002t0013 a0001c0003t0005 a0001c0003t0008 a0001c0003t0016 a0001c0003t0021 a0001c0003t0028 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0011 a0001c0004t0030 a0001c0008t0002 a0001c0014t0002 a0001c0022t0001 a0001c0023t0002 a0001c0027t0002 a0001c0032t0010 a0001c0048t0012 a0001c0056t0001 a0002c0013t0021 a0004c0029t0002 a0004c0029t0005 a0004c0067t0001 a0005c0063t0002 a0014c0053t0029	a0001c0001t0001g0088 a0001c0001t0002g0069 a0001c0001t0002g0073 others(41): Show a0001c0001t0001g0088 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0227 a0001c0001t0005g0249 a0001c0001t0011g0229 a0001c0001t0031g0075 a0001c0002t0001g0035 a0001c0002t0001g0144 a0001c0002t0002g0062 a0001c0002t0002g0074 a0001c0002t0002g0096 a0001c0002t0005g0063 a0001c0002t0005g0065 a0001c0002t0011g0095 a0001c0002t0013g0140 a0001c0002t0013g0168 a0001c0003t0005g0070 a0001c0003t0008g0078 a0001c0003t0016g0099 a0001c0003t0021g0169 a0001c0003t0028g0135 a0001c0004t0001g0170 a0001c0004t0002g0228 a0001c0004t0003g0064 a0001c0004t0003g0145 a0001c0004t0011g0080 a0001c0004t0030g0253 a0001c0008t0002g0092 a0001c0014t0002g0066 a0001c0014t0002g0067 a0001c0022t0001g0181 a0001c0023t0002g0113 a0001c0027t0002g0090 a0001c0032t0010g0238 a0001c0048t0012g0226 a0001c0056t0001g0084 a0002c0013t0021g0071 a0004c0029t0002g0097 a0004c0029t0005g0100 a0004c0067t0001g0094 a0005c0063t0002g0072 a0014c0053t0029g0134	44	272	0.1618	832	c.110 others(849): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATC CATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATC CATCCATCTGTCCATCCATCCATCCATCCATCCATCCACCATCCATTCAC CCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCA TCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCA TCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTC ACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATC CATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCAC CATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATT CATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCAT CCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCATCCAG CATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCATCCA TCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCATGCA TCCATTCATCCATCCACCATCCATCCACCATCCATCCACCATCATCCATC CATT		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(825): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCA CCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCC ATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCT GTCCATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATC CATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCA TCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCCATCC ATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACCATCC ATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCATCCATC CATCCACCATCCATCCACCCATCCATCCACCATCCATCCATCCAGCATCC ATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCATCCATCCAT CCATCCTCCATCCATCCATCCATCAACCATCCATCCATGCATCCATTCAT CCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0053 a0001c0005t0053	a0001c0005t0053g0105 a0001c0005t0053g0105	1	272	0.0037	832	c.110 others(849): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATC CATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATC CATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCACCATCCAT TCACCCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCA TCCATCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCC ATTCACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATT CATCCATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCAT CCACCATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCC CATTCATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCAT CCATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCAT CCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCA TCCATCCATCCATCCTCCATCCATCCATCCATCAACCATCCATCCATGCA TCCATTCATCCATCCACCATCCATCCACCATCCATCCACCATCATCCATC CATT		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(825): Show CCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCACCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCACCAT CCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCCATGC ATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCTGTCC ATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATCCATC CATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCAT CCATCCACCATCCATCCATCCACCATCCATCCATTCATCCATCCATCTGT CCATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCATCCATCCA TTCCTCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCC ATCCATTCATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCC ACCATCCATCCATTCATACATCCATCATCCTCCCATTCATCCATCCATCC ACCATCCATCCATTCATTCATCCATCCATCCATCCATCCATCCATCCATC CACCATCCATCCACCCATCCATCCACCATCCATCCATCCAGCATCCATCC ATCCATCTATTCATCCATCCATCCATCCATCCGTCCATCCATCCATCCAT CCTCCATCCATCCATCCATCCATCAACCATCCATCCATGCATCCATTCAT CCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp2 HG02572.hp2 others(3): Show HG01109.hp1 HG02280.hp2 HG02572.hp2 HG02886.hp2 HG03139.hp2 HG03453.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0006 a0001c0007 others(2): Show a0001c0001 a0001c0006 a0001c0007 a0001c0009 a0006c0034	a0001c0001t0020 a0001c0006t0019 a0001c0007t0001 others(3): Show a0001c0001t0020 a0001c0006t0019 a0001c0007t0001 a0001c0009t0003 a0001c0009t0023 a0006c0034t0009	a0001c0001t0020g0194 a0001c0006t0019g0264 a0001c0007t0001g0195 others(3): Show a0001c0001t0020g0194 a0001c0006t0019g0264 a0001c0007t0001g0195 a0001c0009t0003g0261 a0001c0009t0023g0263 a0006c0034t0009g0193	6	272	0.0221	832	c.110 others(849): Show c.110-5475_110-5474insTCATCCATCCACCATCCATCCATCCATC CATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCC ATCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATC CATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCAT CCATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCAT CCATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCACCATCCA TTCACCCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTC ATCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTC ATCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATT CACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCAT CCATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCA CCATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCAT TCATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCA TCCATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCA TCCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCC ATCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCC ATGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCATCAT CCAT		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(825): Show ATATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATAT CATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTA CATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATA TAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTACATA CTATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGT ATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACTAT GTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGT ATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTAT ATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATAC TACATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCA TATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTACA TACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATATA GTATGTATACTACATACTATGTATATCATATAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01952.hp1 HG02572.hp2 others(2): Show HG01255.hp2 HG01952.hp1 HG02572.hp2 HG03139.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0190 a0001c0001t0001g0240 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0190 a0001c0001t0001g0240 a0001c0001t0001g0241	5	448	0.0112	832	c.51+ others(847): Show c.51+2315_51+2316insCTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAT GTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATAT GATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAG TATACATACTATATGATATACATAGTATGTAGTATACATACTATATGATA TACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATA CATACTATATGATATACATAGTATGTAGTATACATACTATATGATATACA TAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATA CTATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGT ATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTAT ATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGT AGTATACATACTATATGATATACATAGTATGTAGTATACATACTATATGA TATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTA TACATACTATATGATATACATAGTATGTAGTATACATACTATATGATATA CATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACA TA		COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5						chr11	TogoVar
CTU2_chr16_88701503_88720396	88713207	C C	CCGAGAGC others(825): Show CCGAGAGCCCCCTTTCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCC GGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATACCCGAGAGGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCC ACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGC CCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCTCTTCCCCGGGCCCTGACCCCCACTCATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0159 a0002c0003t0005g0159	1	418	0.0024	832	c.738 others(847): Show c.738-104_738-103insGAGAGCCCCCTTTCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTC ATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCGAGAGGCCCCCTTCCCCGGGCCCT GACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGA GAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCTCTTCCCCGGGCCCTGACCCCCACTCAT AC		CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
DIP2C_chr10_269201_694668	323319	C C	CTGTTAGA others(825): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCAGCGAGAG ACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCA GCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAG CGAGAGACCGGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGT GAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCG AGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGA GAGGCCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAG AGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTC CAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGC GGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCG GGGCTCCAGCGAGAGACCGGTGTTGTTAGAACAGTCAGTCGGGGGTGCGG GGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGG GCTCCGGCGAGAGGCCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGG CTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGG TGCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGT GCGGGGGTGCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGT CGGGGGTGCGGGGCTCCAGCGAGAGACCGGTGT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	88	0.0114	832	c.392 others(851): Show c.3924+3686_3924+3687insACACCGGTCTCTCGCTGGAGCCCCGC ACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCA CCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAG CCCCGCACCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTC GCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACGCCGGCCTCTCG CCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGC TGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACACCGGTCTCTCGCT GGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTG GAGCCCCGCACCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCT CTCGCTGGAGCCCCGCACCCCCGCACCCCCGACTGACTGTTCTAACAGCG CCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACGC CGGCCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCC GGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCG GTCTCTCACTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACACCGG TCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGT CTCTCGCTGGAGCCCCGCACCCCCGCACCCCCGACTGACTGTTCTAACAG CGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGCACCCCCGACTGACTGTT CTAACA		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DNAJC4_chr11_64225548_64239281	64237126	G G	GAGGGAGA others(825): Show GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGGGAGAGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGAGAGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGG AGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGACAGACAGAGACAGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	832	c.29 others(843): Show c.2942_*2943insAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGGGAGAGGAGAGGGAGAGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGAGAGGAGAGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGACA		DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding					2846		chr11	TogoVar
EIF3B_chr7_2349827_2385745	2377695	T T	TGTGTTCT others(825): Show TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGT GTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	384	0.0026	832	c.215 others(849): Show c.2154+734_2154+735insGCTCCTGGGATGCTGTGTTCTGTGAATG ACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCC GTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGC GCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAG GAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGG TGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTG TGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGG GAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGC GCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGG AGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGAC CCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGT GTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTC TCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGA GCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGA TGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGC GAGC		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377946	G G	GCTGTGTT others(825): Show GCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTGTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTT GTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCC TGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	384	0.0026	832	c.215 others(849): Show c.2155-742_2155-741insTGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGC TGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCG CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGT GTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG AATC		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results (Total: 7053 hits)