Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TIAM1_chr21_31113418_31349261	31295611	ATGCAACT others(2224): Show ATGCAACTTAATGAAATTCTTTATGATGAACAGTTAACAGGTTATCCTAG TACTCAAAAGGAATACCAATTGCCACAGGATGGTAATAGAGCTGAGAGTC TCTACAATTCAATAGATGCCCTTAACAGGACAAAGGTAAAGAATACACGT ACCTTTTGAGAATATGCACATTAGGATTCTCAGGTTCTTGACTCTGATTA TTTTTGTTTGTTTGTTTTTTGAGACGGATTGGGCTGGAGTGCAGTGGAGC GATGTTGGCTCACTGCAAGCTCCGCCTCCCGAGTTCAAGCGATTCTCCTG CCTCAGCCTCCTGAGTAGCTAGGATTACAGGCATACAACACCGCTCCTGG CTAATTTTTTGTATGTTTACTAGAGACGGGTTTTCGCCATGTTGGGCAGA CTGGTCTCGAACTCCTGACCTCAGGTGACCCGCCTGCCTCAGCCTCCCAA AGTATTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAACTCCGAATTT TTAACCTGGATTTGATGATTATTCAGGAAAATAGTATGATCATTTTGGTA TACTATTTAATGTATAATCAGAATACTATTGAAATCCTTGGGAAAGGAAA CATTTCTATTTCTGGGGGTAATAAGGAGTATTTGGATATACTTTTACCCT AAAATCCTGGTATAGAAGAGAATACTCATTCCAAAAAAAAATATGCACAC CTCAAAAGGTTTAAACTTTATTTAAATGAACAAAAACAGATAATTTCAAA TTTTCGACTATTTATATGTGAAGTGGATGATCTTCACCTAAAAGTGACAG AGGACTTCCCCAACGGAGCCCCAAATCAAAAACAACCATTTTAAGACAGG CAGAAATGACAAAATACATAATTTTTAAAACTCCTGCTTATGCATGAATC ATCTGCAAGATAATCCACAAGAGAAAAAGATAATACTTAGGTGCTGACAC TCATGTCTCTTCTATTTCAAATCCCTGGCTGAAGAAGAAACAAAATGAGT CTTCTTATCAGGGGAGTCCAGGGTCCTTTTAGTTTCAATTTGAGATTGGA CTGGAATTTTTTTTTTTTCTTGAGACAGAGTCTCGCTCTGTCACCCAGGC TGGAGTGCAGTGGTGCGATCTCAGCTTACTGCAACCTCTGCCTCCTGGGT TCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCAT GTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTT CATCGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTCATAATCCGCCCG CCTTGGCCTCCCAAAATGCTGGGATTACGGGCATGAGCCACTGCATCTGG CCTGGACTGGATTTCTGATCTGCATTTCTCAAAGGCATATCCTTGACATC CCTTCTCCTAAACTCATGCTACTAACTCTTCAGGGCTGTTCTAGAGGAAC GTTCTAGGGATACATGCACCCTTCCAACTTCATGCTATGTAAAAGAATGG CACTAGCGGTGAGTAAATTAAGAAAATGAATAAAACTCAATTACAATTTC ACATTATATAAAATTAGAGGGTATACTTGAAAACATTATGCTAATTGAAT AAACCAGACAAAAGAGGACAAATACTGTATGATTCCACTAATGCGGGGTA CCTAGAACAGTCAAACTCATTGAGGCAGAAATAGAAAGGTGGATGGCAAG CTGTTGGTGAATGGGTACACAGTTTTGGTTCTGCAAGACGAAAAGAGTTC TGGAGATGGATGGTGGTGATGGCCACATAACAGTGTGAACGTACTTTCCT TTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGAGAT CTCGGCTCACTGCAATCTCCGTCTCTTGGGTTCAGGAGATTCTCCCGCCT CAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACAACGCACGGCTA ATTTTTGTATTTTAGGTATCACCATGTTGGCCAGGCTGGTTTCGAACTCC CGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACA GGCATGAGCCACCGTGCCCGGCCAATGGGAATGTACTTAATGCCACTGAG CTGTTCACCTGAAAACAGTTACAATGGCCAATTTTGTGTTTTACGTTAGG GTTTTGAGACCCCAAAAATATGATATAATGCTCAGAGTTAAGTGCCATAC GATGAACTCAGAGGGCTATGAAGAGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	212	0.0047	-2231	c.-18 others(21): Show c.-188-20934_-188-18704del	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	2/27			chr21	TogoVar
ADARB2_chr10_1172313_1742525	1237976	GCCTCCCG others(2223): Show GCCTCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTCCCTCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGT GTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCT GCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTCACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCC GGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCC TCCCTCTGGCGATACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTCCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCCCTGCCTCCCGGAGTTTACTCCCCTCTCCCTCTCCCTCCC GGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTCCCTCCCGGTGT TTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTAC TCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCC CCCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGCTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCC CTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGT GTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTT ACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTAC TCCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT CCCCTCTCCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTTACTCCCCCCTC	G G	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0011 a0002c0002t0006g0011	1	106	0.0094	-2230	c.136 others(19): Show c.1361+1925_1362-4132del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ZNF564_chr19_12520373_12556482	12538363	CGCCTGTA others(2222): Show CGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACGAGGT CAGGAGTTAAACACTAGCCTGGACAAGATGATGGAACCCCATCTCTACTA AAAATACAAAAAAATTAGCCAGGCATGGTGGTGGGCACCTGTAATCCCAG CTACTTGGGAGGCTGAGGCAGAGAATTGCTTGAACCCAGGAGGCGGAGGT TGCAGTGAGCCAAGATTGCGCCATTGCATTCCAGCCTGGGCAACACAGCA AGACTCTGTCTAAAAAAAATAAATAAATAAAAAATAAAAAAATTTTAACT AGTCGAGTGTGGTGGCACAAGCCTGTAATCCCAGCTACTTGGGAGGCTGA CACAGAAGGATACTTGAGTACAAGAGGTCAATGCTACAGTGAGCTATGAT TGCGCCACTACACTCCAGTCTGGGCGACAGAGCAAGACCCTGTCTCAAAA AAAAAAGTATCAACTTTAGTTAATAATAATGTTATTGGTTTGCCAATTTT CATCATTATCAGATGTAATATGTTGGTTTATAATCATAACTAATACACTA CACTAACGCAGTATGTTAAAAATAGGGGAGGTAGGCCAGGCGTGGTGGCT CACGTCTGTAATCCTAGCACTTTGGGAGGTCGAGGCAGGTGGATCACCTG AGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGCGCAATCCAGTCTCT ACTAAAAAAATTCAAAAAAAAATTAGCTGGACATGGTGGTGGGCGCCTGT AATCCCAGCTACTCCGGAGGCTGAGGCAGAAGAATCGCTTGAATCTAGGA GGCAGACATTGCAGTAAGCTGAGATCGTGCCTCCTGTCACCACACTCCAG CCTCGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAATAG GGGAGGTAGGGAAAAGGGGCTCTGTAATAGCTCCCAAATTTTTCTGTAAA CTATGAATTAAAAAAGCAAATAAACTAACCTTTCATGGAAAATTCTAGTG TAAAAAAAGAAAGCTGGCTGGGCACAGTGGCTCACGCCTGTAATTCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGTTCGAGACCA TCCTGGCTAACATGGTGAAACCCCATCTCTAATAAAAATACAAAAAAAAA AAAAAAAGAGTAGGGCAAGGTGGCACGTACCTGTAGTCCCAGTTACTTGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTAGCAGTG AGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGACAATTC CTCTCAAAAAGACAAAAAAGAAAAAGAAAAAGGCCAGGCGCAGTGGCTCA CGCCTGTAATCCAAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGT CAGGAGATAAAGACCATCCTGGCTAACTCGGTGAAACCCCATCTCTACTA AAACTACAAAAAAGAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGATTGGCGTGAATCTGGGAGGC GGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTAAC AGAACGAGACTCCGTCTCAAAAAAAAAAAAAAGAAAAAAGAAACCTGACA TTCCATAGTACACACAGTATAATGCCACTTGCGTAAGATTCATTCAAAAA TGAAATATGTAACTGACTGGCTTAAAATAAAATATATTGACATAGGGTTG AGTACACAGGTTAAGAAAAGCAAGGAAATTATCTTATAATCTATAACACT GGCCCCATCTGGAAAGAGAATGGATGATTTGGCTTCTAGGAATCATTTCA AGTGGGGCATGTGGTGAGAAGTCTTCAAAGTCGTGGCCTGGCTGTCATGA GACTGACATTCCCTTTACAATGTTTCAGTTGACTGTGCAACTGTTTTATG TAGTTTCCTCATATGCAATATGTTTAGTAAGTTTCCACAATGAAAACTCA ATACACAAATAAGTCTCAGTGTACTCCGAATTTTGAGCATCAAGCCATTG AAGTCAACATTTAAAAGAGAGCATAGGGCCAGTGTGGTGGCTCACATCTG TGATCCCAACACTTTGGGAGGCTGAGGCGGACAGATCAGTTGAGGTCAGG AGTTCGAGACCAGTCTGGCCAACATGGTGAAACTCCATCTCTATTAAAAA TACAAAAACCGGCTGGGTGTGGTAGCTCAT	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	412	0.0024	-2229	c.3+1 others(14): Show c.3+10738_4-9668del	ZNF564	ENSG00000249709.8	transcript	ENST00000339282.12	protein_coding	1/3			chr19	TogoVar
MYO9B_chr19_17070777_17218286	17117775	TAAAAATA others(2219): Show TAAAAATACAAAAATTAGCCAAGCGTGGTGGCAGGCGCCTGTAATCCCAG CTACTGAGGAAGCTGAGGCAGGAGAATGGCTTGAACCCGGGAGTCAGAAG TTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGC GACACTCTTCCTCAAAAAAAAAAAAAAAAAAAAGAAAAGACATATACAGG ATTCTAGTTAGCGGGTATGTGAACTGAGGTTCTTGCCTGGAGCTGATTCT GCCATCGGTTGATGTTTGGCAACTGCTGGAGACATTTTTGGTTATCATAG CTGGGGAGGGAGAGATGCTACTGGCTTCTGGTGGGTAGAGGCCAAGATGC TGCTAAACACCCCACAGTGTACAGGACGGCCCCCCTCTTTAAAGAATGAC CCGGCTGCAAATGTCAGTAGTGCTGAGGCAGAGAGACCTGCTTTAGTTTA GAGGCCTTTAGAGAGTACAATTGAAAATCTGGTCTGGCGCTCTGGACAGA ATCTGCAGGGAGCAGTGGTAATTCAGAAGCCACCACCTAGATGGAGGCCG GGAGCCATGGCTCACGCCTGTAATCCCGGCACTTTGGCAGGCTGAGGCAG GAGGATAGCTTGAGCATAGGAGTTCGAGACCAGCATGACAACATAGCGAG AGCCTGTCTCTATATTTTTTAAAATTTTTTAAAATGAATTTATTTATTTA TTTATTTATTTATTTTTATTTTTTTGAGACAGAGTTTCACTCTGTCACCC AGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTAAAACCTCCGCCTCCC AGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTACAG GCGTGCGCCATCACGCCCACCTGATTTTTGTATTTTTTGGTAGAGACATG GTTTCGCCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATC CGCCCACCTTGGCCTCCTGTGATCACGCCTGGGATCACAGGCGTGAGCCA CCATGCCGGGCCTGTTTTTTTAATTTAAATTTTCTTTTAAATGAAGCCAC CACCTGTGTGGAGGGAGCTGTTTGTGGAAGGTGTAATTGTTAATAAGATT GTCCTCCAAGGAGGATGAGAAGACGACAAGGGCAGGCAGCCCCTGGAGAG GCCCTCAGTGCAGGCCGGCCTGAGGGGACATCTCCAGTCCTGCCAAAGTG CCTGGACCCGTTCTCGGCACCTCTCACCTCTCCCCTACAAACCAGAATTT ACCAGCTCCAGGAGTTCAGAGGAATGGCCAGGAAGCAAGATGTGGGGGTT TGAGTGCAGGCTTGGCTGCCTGCATGCTGTGTGACCTGCAGCAAGTCACT TGACCTCTCTGTTCTGCCTCCTGATCTCTCACGCCCCAGGGCCTTTGCAT GTGCTGTGCCCTCAATCTGGAATACTCTTGCCACCATCATCCTTTTAAGT CCCACCCAAAGGCCTCCATGTCCCTTCAGTGCCAGCGCACAGCACCACTG GGAGATTCAGAGCACAGATCCAGGATGACGGGCAAGCATGGGGTGTGGCT CCCACTGCCTTGCACCCTGAGGCTCTGAGCAGGCTCTCTTCAGCGACCCT GTGTTTCTTACAGCCGGCTTCTGGTGTTGGCTGAGGAAGAGCCAGGAATG AGCGAGTGCTGAGATGGAGTCACAGGACACTGAGGCAGCAGGGAGGCCGA GGAGGGGAGCCTGGGCGGTCCTCCTATGCCTGAGTGCGCTCCCATCCTTA CTCTGGAACTGCCACGTAAAGAAAAGCAGAGATGCCCCGTGGTTCATACC TGTAATCCCAGCACTTCAGGAGGCCGAGGCAGGAGGATCATTTGAGCTCA GGAGTTTTTTGTTTGTTTGTTTGTTTTGTTTTGTTTTTGTTTTTTGACAC AGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCT CACTGCAGGCTCCGCCTCCCGGGTTCATGCCATTCTTCTGCCTCAGCCTC CCAAGTATCTGGGACTACAGGCACCACCACCATGGCCGGCTAATTTTTTA ATTTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGATGGTCTCGATCT CCTAACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGCAGGGATTACA GCTATAAGCCATTGCGCCCGGCCAAGCTCGGGAGTTTGAGGTCATCCTGG ACAACGTGGCAAAACCCCGTTGCTACG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0036 a0003c0036	a0003c0036t0003 a0003c0036t0003	a0003c0036t0003g0012 a0003c0036t0003g0012	1	262	0.0038	-2226	c.840 others(19): Show c.840+15239_840+17464del	MYO9B	ENSG00000099331.14	transcript	ENST00000682292.1	protein_coding	2/39		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATP8B3_chr19_1777075_1817276	1797531	GCTCTGTC others(2217): Show GCTCTGTCGCCCAGACTGGAGTGCAGTGGCACAAGCTCAGCTCACTGCAA CCTCAGCCTCCTGGGTTCAAGTGACTCTCCTGTCTCAGCCTCCCGAGTAG CTGGGATTACAAGCTCATGTCACCACGCCTGGCTCATTTTTGTATTTTTA GTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGAC CTCCAGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCG TAGCCACCGCACCCAGCCACTTTTTATGCTTTATTGTTCTTAGAAATGGG GTCCTACTCTGTGGCCCAGGCTGCAGTGCAGTGGTGCGATCATAGCTCAC TGCAGCCTCAACCTCCCGGGCTCAAGACATCTTCCCTCTTCAGCCTTCCA AGTTGCTGGGGCAACAGGTGCATGCCACCCCTTTGTGGTGTCTTTTGTGT GTGTGTGTGATGGAGTCTCTCTCTATCACCCAGGCTGCTGGAGTGCAGTG GCGTGACCTTGGCTCACTGCAACCTCCACCTCCGGGTTCAAGCAGTTCTC CTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCC TGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGTCATGTTGGCCA GGCTGCTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAACCTCGG GCCCATTTTTCTATAGCTGAACTTGAACCATTTCTTGGGGACTTCTCACT ACACTAAATTATGACCCAGTCCAAACCACGTGCCCTGGTTATAAATTAGA CCCGGGGCTGTCAAACTACACCCCACCACATCATCAATTTTTGTACGGCC TGCGAGCTAAGAATTGTTTTTGGATTTTTAATGGTCAGGAAAAAAAATGA CTAGAATAATACTAATACTGTTTTGTGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTATTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CTGTCTCAAAAAAAAAACAAAAAACAAACAAACAAACAAAACTATTTTAT TTTGTGATCTGAGAAATACTCAGCAATTCGAATTTCAGCATCCACAAATA AAGGCTTGTGAAAGTCAAAAGAAGAGCAGTGGCCGGGTGTGGTGGCTCAC ATCTGTAATTCCAGTGCTTTGAAAAGCGGAGGCAGGCGGATCGCTTAAGC CCAGGAGTTCAAGACCAGCCTGGGCAACATAGGGATTCCCTGTCTTGACA AAAAATACAAAAATAAGCTGGGTAAGGTGGCACTCTCCTGTAGTCCCGGC TACTTGGGAAGCTGAAGTGGGAGGATTGCTTGAGCCCAGGAATTCGAGGC TGCAATAAGCTATGATTGCACCACTGCATTCCAGCCTGGGCGGCAGAGCA AGACCCCATCTCAAAAAATAAATAAATACACACTGTTTAAAAGTTTGGCT AGGTGTGGTGGCTCATGCCTGCAATGCCAATATTTTGGAGGCTGAGGCAG GCAGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGGGAAACAGGGTGA AACCCCATCTCTACTGAAAAAAAAAATACAAAAATTAGCCAGGCGGGGTG GCACGCAACTGTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATCAA CCCAGGAGGCGGAGGTTTCAGTGAGCAGAGATCGCACCACTGCACTCCAG CCTGGGCAACGAGAGCAAAACTCCGTCTCAGAGAGAAAAAAAAAAAAAAA GTCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCAGGTGGATCGCCGGAGGCCAGGAGTTCGAGACCAGCATGGCCAA CATGGTGAAACCCCATCTCTGCTAAAAATACAAAAAAATTAGGTGTGGTG GCAGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGCCAGGAGAATCGC TTGAACCTGGGAGGTGGAGATTGCAGTGAGCCAAGATTGCACCACTGCAT TCCTGCCTGGGTAGACAGAGTGAGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03041.hp1 HG01891.hp1 HG03041.hp1	a0001 a0001	a0001c0030 a0001c0037 a0001c0030 a0001c0037	a0001c0030t0009 a0001c0037t0009 a0001c0030t0009 a0001c0037t0009	a0001c0030t0009g0105 a0001c0037t0009g0201 a0001c0030t0009g0105 a0001c0037t0009g0201	2	390	0.0051	-2224	c.155 others(17): Show c.1552+192_1553-527del	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	14/28			chr19	TogoVar
DLGAP2_chr8_732628_1713476	1400181	AGAGTCGT others(2217): Show AGAGTCGTGTATTGAGAACTTACTGAGCGCCACCTCCTTGTCCTCCAGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGT GTATTGAGAACTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGCGCCACCTCCTCATCCTCCAGGGTAGTGTATTGAGTGCT TACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGC GCTCCCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCA CCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTC CTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCG TCCTCCAAAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCT CCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAG AGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCATCGTCCTCCGGAGTC GTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGT ATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTG AGTGCTTACTGAGCGCTCCCTCCTCATCCTCCAGAGTCGTGTATTGAGTG CTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTA CTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGA GCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGC CCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCC TCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCT CGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCACTCCCTCCTTGTC CTCCGGAGTCGTATATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCC AGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAG TCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTAT TGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAG AGCTTACTGAGCACTCCCTCCTTGTCCTCCAAAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACT GAGCGCCACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGC GCCACCTCCTCGTCCTCCAGAGTCGTGCATTGAGTGCTTACTGAGCGCCA CCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTC CTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCA TCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCT CCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTG AGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCGGAGTC GTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGT ATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTG AGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTG CTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTA CTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGA GCGCTCCCTCCTCGTTCTCCTGAGTCGTGTATTGAGTGCTTACTGAGTGC CACCTCCTCATCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCC TCCTCGTCCTCCAGAGTCGTGTATTGCCTGAGTCGTGTATTGAGTGCTTA CTGAGCGCTCCCTCCTCGTCCTCCT	A A	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	40	0.0250	-2224	c.107 others(20): Show c.107-101169_107-98946del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDSS2_chr6_107147562_107464564	107223059	CTGCCTCA others(2217): Show CTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCGTCACCACACC CAGATAATTTTTTGTATCTTTAGCAGAGGCCAGGATGGTCTCGAACTCCT GACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTAGGATTATAGGT GTGAACCACTGCGCTCTACAAACATTTTTTTAAAAAATTGGCCAGGCATG GTGGCTCATGCCTATAATCCTGGCACTTTGGGAGGCCGAGGTGGGCAGAT CACCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCT GTCTCTACCAAAAATACAAAAAACAAGCCAGTTGTGGTGGCATGTGCCTG TGGTCCCAGCTCCTCGGGAGGCTGAGGTGGGAAGACTGCTTGAGCCTGGG AGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACCACGCTCCAGGA TGGGTGACAGAGTGAGACTCCATCTCAAAAAACAAACAAACAAACAAACA AAAACTAGTTGGGCATGATGGTACATGCTTGTGGTTCCAGCCACACATGG GAGGCTGAGGTGGGGAGATCGCTTGAGTCCAGGAGGTCAAGGCTGCAGTG AGACACGTTCAGGCCACTGCACTCTAGCTTGGGCAGCAGAGTAAAACCCT GTCTCAGGGTTGTAGATTGTATTTAAGAGTGAATGACATCTATGTACCCG CCCCCGACCCCGACCCACCAAGAGCATTTAAACTTGTAAATCAAGCCCTT TAATATTATCCATTGAAGAAATCCCAGAGTCTAGAGCAGGGGTCCCCAAC CTCCAGGCCATGGACTGGTACTAATTCTGTGGCCTCTTAGGAACTGGGCT GCACAGCAAGAGGTGAGCGGTGGGTGAGCGAGCATTACTGCCTGAGCTCC ACCTCCTGTCAGATCAGCATGGGCATTAGATTCTCAAAGAAGTGTGAACC CCGTTGTGAACTGTGCATGCCAGGGATCTAGGTTGCCTGCTCCATAATGC CTGATGATACGAAGTGGAACAGTTTCATCCCGAAACCATCCCCATGCATT GAGTGCTGTATTCTAGGTGTGCAAGGATGAGGTAAAGTGGGGATTGAGAA GCAACAACAATATGAGCTGCTCAAAAAGCGAAACAAGATCACTCCTTATT GTGGACAGGACAGTTGCTCATCCAGGATCCATTTCTCTCTCCTCTCCCTG CTTACTAATAAAACCGTAATTTTCTTCAGGTATTTACTGCTCCTGCTAAT GATTAATTTAGGAAAGGATATATCATCCAATTCTAGCCTAAGAGATATGA GGGAAATCCACCACTGAGCTCCTAGGAAAGACCCACGTAGAAGTGGGAGT TGTTTCCTCTAGATGTTGCCCTGTCTTGACAGGACATACCAAGGGCTACT GTAGCTTAACTGCTACCAGGCTGATGATAAAGACAACAGTAAGGAAGGCA GAGCACGGACAGAGAGGGCTTCAATAGTGCTGAGTTGTCATGTTAAACTA TCCCTGATGCCTGACTACCTCTGCATATACAGTTAGAGTAAAATATATAT AGAGAGAGTAAAATATACATCTTCACTTATATGCACATCTATTTAATTGG GTTTTCCATTTTTTTGCTGCTGAAAGCATTCCAATGAATTTACTCCCTAA GATAAAAAATGGTTACACTATACGAAATCTAGATATGCCAACATTAACAA CTACTAGAACATGTAAGTATTTCCTTAGGATGGTGTATTAGTTATCTATT GCTGCAAAACAAACTAGCATCTTAAAACAACTGACATTTATTATTTCACA GTTTCTGAGGGTCAGGAATCCAGGAATGGCTCAGCTGGCTGGTTCTGGCT CATGGTTTCTCGTGAGGTTGCAGTCATGCTGTTGGCCACGGCTACAGTCA TATGAAGGGGCTGAAGAATCTGCTCCAAGCTCAATTAAATGGTTGTCGGC AGTAGGCTTTAGTTCTTGCCACACAGGCCACTCACGTGCCATGGCAGCTG GCTTCCCTAGAGCAAGTGATCCAGGAGAGTAAGAACACACCCAAGAAGGA CGAAGGAAGCTTCACTATATATATATTTTTATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTGTCACTCTG TTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGGCTCACTGCAACCTCC GCCTCCCGGGTTCATGTGATTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02886.hp2 others(8): Show HG02055.hp1 HG02109.hp2 HG02886.hp2 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0001 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0100 others(8): Show a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0100 a0001c0001t0001g0182 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0005g0071 a0001c0001t0005g0093 a0001c0001t0005g0095 a0001c0001t0005g0101 a0001c0001t0010g0094	11	260	0.0423	-2224	c.703 others(19): Show c.703-13001_703-10778del	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7			chr6	TogoVar
ARRDC5_chr19_4885437_4907896	4885871	GAAGGTGG others(2215): Show GAAGGTGGCTGGAGAAGTATTTCAGGGCCATTCCCCCAAGAAGACAAACC CTGGATCAGTCTTTTTAAAATTTAATTTAATTTTAGTATTATAAAGAAAA ATTTAAAAAACAGGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCGGGAGATCGAGACCATCC TGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAG CCAGGCGTGGCGGCGGACACCTATAGTCCCAGCTATTCGGGAGACTGAGG CAGGAGAATGGTGTGAAACCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGTACGACAGAGCAAGACTCCGTCTCAAAAA AAAAAGACAAAGAAAAATTAAAAACTAGACACAGGGTCTCCCTATGTTGG CCAGGCTGGTCTCAAACTCCTAACCTCAAAGACATCTGCCCACCTTGGCC TCCCAAAGTGCTGGGATTACAGACACGAGCCACAGCGCCCAGCCTCAGCC GCTGTTTCATTTCAGCCATGCAGGGCCTTGCAGGCAAAGCCAGGCCTTTT GGATTTTACTTCAAATGCTGTAGGGACCTGATGGAGATTTTCAGTGAGGG AACAGGATGGCCTTTTTCATGCTGAGAGTTCTTTTGTTGCTCCAGGAATA CAATTGACAGGTAAAATTCAGGATGCCCAATTAAATCAGAATTGCAGATA AACAATACATTTTTTTTGAGACAGAGTTTTGTGCACTGTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATTTTTTTTTT TTTTTGAGACAGAGTTTTGCTCTTGTCATCTAGGCTGGAGTGCAGTGGTG CGACCTTGGCTCACTGCAATCTCCGCCTCCCGGGTTCAAGCAATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCT GATAATTTTTTGTATTTTTAGTAGGCATGGTGTTTCACCATGTTGGCCAG ACTGGTCTCCAACTCCTGACCTCAGGTGATCCACTCGTCTCAGCCTCCCA AAGTGCTGGGACTACAGGCGTGAGCCACCGCCCCCGGCATTTTTTTTTTT TTTTAAGACAGAGTCTCACTCTATTGCCCAAGCTGGAGTGCAGTGGCGTG ATCTCAGCTCACTGCAACCTTCACCTCCCGAGTTCAAGCGATTCTCCTGC CTCAGCCTCCTGAGTAGCTGGGATTACAGGCATACGCCACCACGCCCAGC TAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCT GGTCTCACACTCCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAG TGCTGGGCGGCAGATCGAGATCCTGTTTCTAAGAAAACTAAAACAGTACA ACACAAAAAAACTAAGTGTCTCAGCTGGGTGCGGTGGCTCACGCCTGTAA TCCCAGCACTCTGGGAGGCCAAGGCCTGCAGACCATGTGAGGTCGGGAGT TCGAGACCAGCCTGACCAACATGGAGAAACCCCATTTCTACTAAAAGTAC AAAATTAGCTAGGTGTGGTGGCACATGCCTTTAATACCAGCTACTTGGGA GGCTGAGGCAGCAGAATTGCTTCAACTGAGGAGGCGGAGGTTGTGGTGAG CCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAATTCCA TCTCAAAAAAAAAAAAAAAAAAGGTCCGGGCGCAGTCGCTCGTGCCTGTA ATCCCAGCACTTTGGGAGCCTGAGGCAGGCAGATCACGAGGTCAGGAGAT TGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACA AAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTGATCCCAACTACTAGGGA GGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAG CCGAGATTTTACTACTGCACTCCAGCCTGGCAACACAGCAAGACTCTGTC TTAAATAAATAAATCAACAACGTGTCTTAGTTGGTCCCACCCTATGGAGA GGCTGGGTTTTCCGGAATCTGCTGGAATGTGGCAGGGGCCACTAAATGCA AATGTGTCATGGCTGCAGGGTTGACAGACACCCTGCAGCAAGGGGGAGGG AGGTACCAGTATGTTGCAGTTCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	412	0.0024	-2222	c.29 others(11): Show c.2953_*5174del	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		4565		chr19	TogoVar
RIBC2_chr22_45408693_45437509	45419140	CTTTAAAT others(2215): Show CTTTAAATGCCACCTATAGGCCATCATTTCCCAGGTTTATACCTCCAGCC TGGACTCTTCCCTGAATCCAGACTCATAAATTCATCTAACTTCTCTTGGA TGTCTAATGCACTTGTCAAGATCAGCACGAGTCCAATAACTCTGTTCTTC CCTGCAGACCTGACCTTCTACCCACATCCGTGACAGCTCCTTTCTTCTAG CTGCCCAGGCCCCAGCCCAGGTAATCTTGACTCCTTCCTTTCTCTCCATT TTTCAGCTACTTTCCACACCCTCCAACATTCCCATTCTGAACTAAGGCTA TCAGCATCTCTCGGCTGGGCGCAGTGGCTCATGCCTGTAATCTCGGCATT TTGGGAGGCTGAGGAGGAAAGATCACTTGAAGCCAAGAGATCAAGGCCAG CCCGGGCAACAAAGTGAGACCTCATCTCTACAAAAAATTAAAAAGTTAGC TGGGCATGGTGTCGTGCCCATGTAGTCCCAGCTACTCAGGAGGCTGAGGC AGGAGGATCACTGAGCCTGGAAGGTCAAGGCTACAGTGAGCCGTGATTGT GCCACCGCCCTCCAGCCTGGCCAGCAGAGTGAAACCCTGTCTCAAAAAAA AAAAAGACCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAG GCTGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAA CACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGAGTG GTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAAAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATTGTGCCACTG CACTCCACCCTGGGTGAGAGTGAGACTCCATCTGAAACAAACAAACAAAA AGCATCTCTCAGCTGCTCTTTGGGTCTCTCCCCTTATCCTACAGAGTAAA CATTTCACTCAGAGTAAACGATTTTTTTCAGAGACCTACAACGCCTTCAC AGTCTGGCCTTATCTCCTGCTATGCTGCCCTCTCACTCCATTCTTTCCAC ACTATCTTGCTGTTTTCAGACGTGAGTATATCAGGCTCACTTCTGCCTCA GGGCCTTTGCATGTGCTGTTCCCTCTGCTTAGAAATGTCTTTCCCCAGAT ATCTGTAGGGATCACCACTCTCCTCCAGGGCTGTGCTAAAGTGCTATCTT ATCAGTGAGGCTTCCCCTGACCCCCCTATTTTAAACCCTGTACCCTCCTC CCACCCCACATTCCGTATCCTGTTGCTTAATTTTTCTCCATAGCCTTGAT CACTGACGTGTTGTATGGTTCATCCATCTCCCAAGTGGTCTAAATTTCCA CCTCTGGCCAAAAGGCTTTGTTTCAGCTGTGGACTTGGTTCTTCAGCAGT CTCCTTGACATCTCACAGGACCCTTCACAACATGTCGGAAAGCAGCCCTG GATCCTCTTCTGCATCTGCTCCTTTTTCCATCTTTCTCCTCCAACTAACT GGTACCTCCTGCCCTTAAACCAGAAGTCTAGGGAATCATCCATGACCCAC CCCTGACTCCAGGCCATCTCTGACTCTTGTCCCTTCTACCTCCTGCATAT ATTTTGAACTGTCCGCTTGTCCCCATCCCTGCTGTCACCCTTGTGATGCA AGCCACCATCTCAGCTGAACAGACCTCTGCCAAGATCTTTCTGATGGCCT CCACTTCCTTTCTTGCCCCTCTCTGGTCCATTCCCAAAACAGCAGTCAGT GATACTTTTAAACAATGTGGAGTTTGGCCAGGTGCAGTGGTTCACACCTG TAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCCCCTGAGGTCAGG AGTTTGAGACCAGCCTGGCCAACCTCTGCCTCCCAGGTTCAAGTGATTCA ACACTGTTCTTACTTTGGGAGGCCAAAGTGGGCAAATCACGAGGTTAGGA GTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAAT ACAAAATTAGCTGGGCGTGGTGGTGCGCGCCTGTAATCTCAGCTACCCCG GAGGCTGAGGCAGGAGAATTGCTGGAACCCAGGAGGCAGAGGTTGCAGTG AGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCA TGTCAAATAATAATAATACTATTATTATTATTAATACTATTATTAATAAT AATAATTAAATAATTAATTATTA	C C	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	424	0.0024	-2222	c.556 others(16): Show c.556+1309_557-814del	RIBC2	ENSG00000128408.9	transcript	ENST00000614167.2	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
ASMT_chrX_1610059_1648081	1637082	TGAGATAA others(2214): Show TGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGAT GCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCC CAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGATG GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACG AGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCC TGTGAGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCT GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC CTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC AGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGAT GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG TGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGT GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTG ATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGT GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG AGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGT GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT CCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGG GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCA CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA GCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCAC AGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATC CATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGG GGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGA GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT CCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCT CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCAT CCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA CCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGG ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT GTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCC TGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACA GTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATG TGGGCACAGCCTCTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	223	0.0045	-2221	c.910 others(16): Show c.910+525_910+2745del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
BRSK2_chr11_1384934_1467689	1429691	CGGTCTGG others(2214): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTT TGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGG TTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTT CTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTG CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCAC TGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT CAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	360	0.0028	-2221	c.92- others(15): Show c.92-6322_92-4102del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1430049	TCAGCAGT others(2214): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCA CTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGC CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGC GTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCT GGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0277 a0002c0002t0005g0277	1	360	0.0028	-2221	c.92- others(15): Show c.92-5474_92-3254del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SAAL1_chr11_18075292_18111082	18076345	ATGGTGGC others(2214): Show ATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCG GATCACAAGGTCAGGAGTTTGAGACAAGTTTGACCAACATGGTGAAACCA CGTTTCTACTAAAAATACAGAAATCAGCCGGGCATGGTGGCATGCGCTTG TAATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGGG AGGTGAAGGTTGCAGTGAGCCGCGATTGCGCCACTGCACTCCAGCCTAGG TGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAAGAAAGA AAGAAAGAAAGAAAACCCACAAAATTAGCCAGGTGTGGTGGTGCGTGCCT GTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGG GAGGCGGAGGTTGCAGTGAGCCAGGATCACACCACTGCAATCCAGCCTGG GCAACAGAGTGAGACTCTGTCTCAAAATAAAATAAAAATGAATAAATAAA TAAAAATTAGCTGGGCATGGTGGCATGCACCCATAGTCCCAGCTATTTGG GAGACTGAGATAGAAGGATGGCTTTAGCCCAGGAGTTTGAGGCTGCAGTA ACCTATGAGTGTGCCACTACACTCTGGCCTGGGCAACAGAGCAAGACCTT GTCTCTGAAAAAAAAAAAAAAAAAAGTATAATGGAACCCCATGTAATTGT CACCCAGCTTCAGCAACTCCAATTCGCAGCCAGTCTTGTTTCATCTACTC CATTAACTTACTTCTTTCCCTCTGCCCCAGACTAATTTGAAGCAAATCCA AGACATCATACTATTTCACTATAAATATATAACTTTTAATAATGGTTCTT GGATCTCAAACCAGCAACAAAAAGAAAACATATTCTATTCAGGATGCTGA GGCAGGAGGATTGCTTCAGCTCAGGAGTTTGAAACCAGTCTTAGCAAGAA TATAGTGAGATCCGTATCTCCAAAAAAAAAAAAAAAAAAATAGGAAAGAA AAATATGGTATGGTTAAGAGGGGCATTTGCCTATTTTCCCTTTCTTAAAA CTTCTGACAGGAGCATGGAGGAAACTGAAGTTCCAAAGTGGTAAAAGAGA ACACATGCTCAAGTAGAATAAATAATTCAGTCCTAAATTAATATGGACCT ATTTCTTCTTTTTTAAAAAGGCTATTGATTAGGTCATAAAGAATATTAAT TAAAAAAGAATATTAGTTGAAGAAATAGAATACTAGAGTTACAGATTATC AGCTTCACAGCTAGCTCAGACACAGCATCATTGCCCAGTCCTGAAGAACA GATAATGGTGTTCAATATTTCATACACTTAAGATTTTCTGAACCCCTAAT AGAGGTTGTTTTTTAATGCTTATAGTCGGTTTCTACATGTGCTTCACCAA AAAAAAAAGTATATCAGGCTGAGAGGTGGCTCTTAAACTTTTTCCCACTT ACATACCAAAATTATTCAGTAACTAATTCAAAGCAAGGCAACAGAAAATA CTAAACATAGAGTGGGGAAACTCTTGATCTGGAAAGCTGAACCCACCAAG AAAACAACAGTTTAGCTATATCCCATTTGCTGTAGGGGATAAAATATCTT AAAAACAAAACAAAACAAAACAAAACAAAAACAAAAACAGTGGAAGGAAA CCATGCCTTCTTTCTTAGTGGTTTAGGTACTTAAAATATCAAACTCAATA TAACAAATGCTAACTCAAGCTCATTTTGCATTTTTCCTCTTCCCTGCCAA ACAGTATAGGGAAAAAAATGAGTTTCCATTTCATTTGTGTATATAATTTC ATCTGTATATAAAATTTCATATTTATGGTTCTGGAGAAAGCACCATTTCA AAATATCACTGCAACTGATTCAAGCACTAAATCTTGTGAGTGAATTCTTC AGAACATGCAGCATTAAAAATGCTTTAACACTGGTCACTTAAAAGTATCA TAATTTATAGATATAGGATGTTTTCAAACATACCAAAGTACTATGAAAAT ATGTACCAAAACTCATAATGCTAACAATAAAGAAGTAACAAAGTAAACAG TGTAGGTCCAAGACAGAAATGTGAGCAGAAAATAAATTGGACACTCCTTG CCTTCCCACTACTATCCTTTCTCCTCCTCCCTCTGTAATTTGCCATTTTT GTGGAACACTCCTTCAGGTACATAAGGTCCTTGTGCTTCCCGTTTTAAAA CACGCTCTCAGAAGGCTGGGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01106.hp2 HG01192.hp1 others(2): Show HG00099.hp1 HG01106.hp2 HG01192.hp1 HG01358.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0001 a0001c0001t0001 a0002c0008t0001	a0001c0001t0001g0001 a0002c0008t0001g0040 a0001c0001t0001g0001 a0002c0008t0001g0040	5	284	0.0176	-2221	c.18 others(11): Show c.1833_*4053del	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3946		chr11	TogoVar
CYP4F11_chr19_15907377_15939529	15931723	AGGAGAGG others(2213): Show AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGCAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAA TGAGTGAGCGAGAAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGCGG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0178 a0004c0007t0178	a0004c0007t0178g0204 a0004c0007t0178g0204	1	386	0.0026	-2220	c.198 others(16): Show c.198+268_199-2123del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
ASMT_chrX_1610059_1648081	1637095	GTGTCCCA others(2212): Show GTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGAC GTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGA GGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTG TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG GTTCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGTGGGCAC AGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACC CATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG ACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCT GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC CTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC AGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGAT GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG TGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGT GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCT GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGT GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG AGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGT GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT CCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGG GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTAT GATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCA CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACAT GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCTC TGTGTGTGAGATAGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG00323.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0076 a0001c0001t0001g0056 a0001c0001t0001g0076	2	223	0.0090	-2219	c.910 others(16): Show c.910+561_910+2779del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
DLGAP2_chr8_732628_1713476	1405156	CGTCCTCC others(2212): Show CGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATC CTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCC TGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCATCGTCCTCCGGAGTCGT GTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCTGAGTCGTGTATTGAG TGCTTACTGAGCGCCACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTACTAACTGAGCGCTCC CACCTTGTCCTCCAGAGTCGCGTAACTCAGCGCTTACTGAGCGCCACCTC CTTGCCCTCCAGAGTCGTGTATTGAGTGCGCACTGAGCGCCACCTCCTCA TCCTCCAGGGTAGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCT CCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTG AGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTC GTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGT ATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTG AGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTG CTTACTGAGCGCCACTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTAC TGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGAGCTTACTGAG CGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCC ACCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCT CCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCCACCTCCTC GTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCC TCCAGAGTCGTGTATTGAGAACTTACTGAGCGCTCCCTCCTTGTCCTCCA GAGTCGTGTATTGAGTGCTACTGAGCGCACCACAGTGCTTACTGAGCGCC ACCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCT CCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTC GTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCC TCCAAAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTG TATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATT GAGTGCTTACTGAGCACTCCCTCCTTGTCCTCCGGAGTCGTATATTGAGT GCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTG AGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCAC CTCCTTGTCCTCCGGAGTCGTGTATTGAGAGCTTACTGAGCACTCCCTCC TTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGT CCTCCGGAGTCGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTTGTCCTC CGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGA GTCGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCG TGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTA TTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGA GTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGAAC TTACTGAGCGCTCCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	-2219	c.107 others(19): Show c.107-96202_107-93984del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1405170	GTGTATTG others(2212): Show GTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGT ATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTG AGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTG CTTACTGAGCGCTCCCTCATCGTCCTCCGGAGTCGTGTATTGAGTGCTTA CTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGA GCGCCACCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGC CACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCC TCCTCGTCCTCCAGAGTCGTACTAACTGAGCGCTCCCACCTTGTCCTCCA GAGTCGCGTAACTCAGCGCTTACTGAGCGCCACCTCCTTGCCCTCCAGAG TCGTGTATTGAGTGCGCACTGAGCGCCACCTCCTCATCCTCCAGGGTAGT GTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAG TGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACT GAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGC GCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCA CTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCC TTGTCCTCCAGAGTCGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTTGT CCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTC CGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGA GTCGTGTATTGAGAACTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCG TGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTA TTGAGAACTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGA GTGCTACTGAGCGCACCACAGTGCTTACTGAGCGCCACCTCCTCGTCCTC CTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCTGA GTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCG TGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAAAGTCGTGTA TTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGA GTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGC TTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTAC TGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAG CACTCCCTCCTTGTCCTCCGGAGTCGTATATTGAGTGCTTACTGAGCGCC ACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCT CCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTC GTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCC TCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCG GAGTCGTGTATTGAGAGCTTACTGAGCACTCCCTCCTTGTCCTCCAGAGT CGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTG TATTGAGAGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATT GAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTATTGAGA GCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTT ACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTG AGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCTCC CTCCTTGTCCTCCGGAGTCC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-2219	c.107 others(19): Show c.107-96172_107-93954del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
PCGF3_chr4_700832_775089	744757	CCGGGGGT others(2212): Show CCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGT TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	366	0.0027	-2219	c.462 others(15): Show c.462+71_462+2289del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKCZ_chr1_2045411_2190395	2121928	CGTCATGG others(2212): Show CGTCATGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGG TTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTA GTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGT AGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTGG TGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTT AGGGTTGTGGTGGTTAGGGTGGTGGTGGTTAGGGTCGTGGCGGTGGTTAG GGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTGGTTA GGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGG TCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGG GTCACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGG GTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAG GGTTGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTA GGGTCATGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTT AGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGT TAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTA GGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTC GTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGT GGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCG TGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACG GTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGT CACGGCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTGGTTA GGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGT TCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTAGTTAGG GTCACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGT TAGGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGG TAGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGG TTAGGGTCGTGGCGGTGGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTG GTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCATGGT GGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGG TGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTG GTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGT GGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGG TGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTA GTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACGGC GGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCA CGGCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTGGTGGTGGTTAGGGTC ACGGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAG GGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGCGGTGGTTA GGGTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGCGGTT AGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGT GGTTAGGGTCACGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGG CGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGCGGTTAGGGTCACG GCGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGGT CACGGCGGCGGTTAGGGTCACGGCGACGGTTAGGGTCACGGCGGTGGTTA GGGTCACGGTGGTGGTTAGG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19043.hp2 HG03516.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0164 a0001c0001t0002g0028 a0001c0001t0001g0164 a0001c0001t0002g0028	2	286	0.0070	-2219	c.335 others(19): Show c.335-13329_335-11111del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MID1_chrX_10440556_10625585	10560823	CCCCATCA others(2211): Show CCCCATCAAGCTACCATTGACTTTCTTCACAGAATTAGAAAAGCTACTTT AAATTTAACGTGGAACCAAAAAAGAGCCCATATAGCCAAGACAATCCTAA GCAAATCGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATAC GAGGCTACAGTAACCAAAAACAGCAGGGTACTGGTACCAAAACAGATATA TAGACCAATGGAACAGAACAGAGACCTTGGAAATAACACCACACATCTAC AACCATCTGATCTTTGACAAACCTGACAAAAACAAGCAATGGAGAAAGGA TTCCCTATTTAATAAATGGTGTTGGGAAAACTGGCTAGCCATATGCAGAA AACAGAAACTGAACCCCTTCATTACATCTTATACAAAAATTAACTCACGA TGGATTAAAGACTTAAATGTAAAACCCCAAACCATAAAAACCCTAGAAGA AAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGATCTCATGA CTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATGGGAT CTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGT GAACAGACAACCTACAGAATGGGAGAAAAATTTTACAATCTACCCATCTG ACAAAGGGCTAATATCCAGAATCTACAAAGAACTTAAACAAATTTACAAG AAAAAATCAAACAACCCCATCAAAAAGTGGGCAAAGGATATGAACAGACA CTTCTCAAAAGAAGACATTTATGCAGCCAACAAACATATGAAGAAAAAAA GCTCATCATCACTGGTCATTAGGAAAATGCAAATCAAAACCACAATGAGA TACCATCTCAAGCCAGTTAGAATGGCGATTATTAAAAAGTCAGGAAACAA CAGATGCTGGCGAGGCTGTGGAGAAATAGGAATGTTTTTACACTGTTGGT GGTTGTAAATTAGTTCAACCATTGTGGAAGACAGTGTGGCAATTCCTCAA AAATCTAGAACCAGAAATACCATTTGATCCAGCAATCCCATTACCGGGTA GATACCCAAAGGATTATAGAGCATTCTGCTATAAAGACACATGCACACAT ATGTTTATTGCAGTACTATTTACAATAGCAAAGACTTGGAACCAACCCAA ATGCCCACCAATGATAGACTGGATAAAGAAAATGTGGCACATATACACCA TGTAATACTATGCAGGCCTGAAAAAGAATGAATTCATGTCCTTTGCAAGG ACACGGACGAAGCTGGAACCCATCATTCTCAGCAAAGTAACACAGAAACA GAAAACCAAACACCGCATGATCTCTCTCATAAGTGGAAGTTGAACAATGA GAACACATGGACACAGGGAGGGGAACATCACACACTGGGGCCTGTCAGGG TTGTGGGGCGAGCGGGGGAGAGCATTAGGACAAATACCTAATGCATGTGG GGTGTAAAACCTAGATGATGGGTTGATAGGTGCAGCAAACCATCATGGCA CATGTATACTTATGTAATAAATCTGCACATGTGTCCCAGAACTTAAAGTA AAAAAAAAAAAAAAAAAAAGAAAATTTCACTCTCTGAGTGGAAGGCCTAA GTGCACCTCTCCTAGTCATTAATTGATTACACAGACTGAAAACATTAATG AGCTCATGGAAATTTTGAAGATACAATAAACTTATTCTAATATTTCTTAA AGCATACTGCATCCATAAGTGAGACCATATGCAATTGTCTTGAGCCCTGA TCTTAAGGGATTTAAACTAGAAACCAATAAACAGAAAGACACATTTTAAA AAATACACATATTTGTAACTTCAAAAAAAAACCCCTTCAAGATAAGACTC TTCCCACAAAAAATATACCAAGTCCAAAGTTGACTTGTATCCATCTACCA AACATTCAAGGAACAGGTAAAATATTTTGAGTGATGGGAATATAGTTATT ATTGCTATGTTTGTTGTCATCTCTTGCCTGCAGAATGAAATATCCCTAAT GAAAATACTGGTCACTTGAATTTGTCTCCAACTTAGATTCAGGAAGATTA TAATATTAAATAAATAAATAAATGCATGTATGTATATGTATATGCAAGTA TGTGTGTGCATCACACACCATAGCACTAGAACCTGCACTATGCCTGCTAC TGGTTTTCAAAGAAGAAACAAGTTATAGAAATTATAATAAAAAGAAGTCT AGCTCAGTATACACTTACA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01167.hp1 HG02559.hp1 others(13): Show HG01106.hp1 HG01167.hp1 HG02559.hp1 HG02572.hp1 HG02809.hp2 HG02922.hp1 HG03130.hp1 HG03471.hp1 HG03490.hp1 HG03540.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp1 NA19043.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0007 a0001c0002t0009 a0001c0002t0020	a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0055 others(13): Show a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0002g0003 a0001c0001t0002g0151 a0001c0002t0007g0152 a0001c0002t0007g0153 a0001c0002t0009g0160 a0001c0002t0020g0163	16	165	0.0970	-2218	c.660 others(17): Show c.660+3847_660+6064del	MID1	ENSG00000101871.18	transcript	ENST00000317552.9	protein_coding	2/9			chrX	TogoVar
PCGF3_chr4_700832_775089	745156	CCCGGGGT others(2211): Show CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTG TTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0310 a0001c0003t0005g0310	1	366	0.0027	-2218	c.462 others(16): Show c.462+471_462+2688del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
ASMT_chrX_1610059_1648081	1637160	GTGTATGA others(2210): Show GTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTG ATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG GGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT CCATCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGA TGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGCACA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAG GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC TGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCT GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGA TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGT GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCT GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGT GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG AGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGA TGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTC CCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA GTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACA GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA TCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCAT GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC ATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGA GGATGTGGGCACAGCCTC	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	223	0.0045	-2217	c.910 others(16): Show c.910+604_910+2820del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZDHHC13_chr11_19112168_19181415	19159517	TTGCCACT others(2210): Show TTGCCACTCAACATATATGTAAAACAAAGACTGTACTCCTAATATATGCT TTACTCTATGGTGTTATTTCATCCCATTTCCTTTTTAAAAAATTTTAATC ATGGCCCATTTAATTCTTTCATGACTCACTAATGAATAGCAGCCTGAGAT TAAAACAAAAACAAACAAACAAAAAAACTCATCCAAGGAATAGGTTTATT ACTTAAGGATCAGGGCCCAGGACCAAGTCCAGCTTAGGGGTGTGTTGTTC TCTTAGTGTTGGCCAAGTCCTGTCACCTAGAAATGGGGAGAGGGGTTACT TGGGCTCTAACCATTTGTGACTTCAGGTAGGTGGAAGGCATTTTCAATCT TCCCACCTCTTGCCAGACTCCCTTCTCCCCTTCCAAGGACCCTGGGAAGC CCTGATGGCCTTGCTTTGCTTATGGAGTAGGAGAAGAAGGAATGTTGTAG ATAGAAATATACCTTTCAGTGTGTTCATTTAAACTTCCACATTACTTCTC TTTCTGGTAATAGCATTTCCGAAAAGAAAGAACAGAATGTTTATGGGAGA CATGCATAAACTGAATTCAAGAATATTTTTTCCATAGGAATAAATGTGAA ATGAGATGGCCATAGGAGTTCTCAAAGTACATATGTCCACATCCATTATA GCATGTTTTTCCTTTATGCTCCTTTTTATTTCTGAGCATTATCTCTAATT TAATTTTTCAGATTTCTTTAAATGAATGGCACAGCATACATTGGGGCCAT TTGGCTTTTTTCAAAAGATTTTATTATCTCTTCTTTGTCTCATAATTACT GATTTGGTGGCAGTTTTTTAAGCACTAGCCTTATTACCACCACTTAATGA AGGCTTGGATGATATTATTATTATGATAGAAAAATACATGATTTTATAAG TAGTCATGAGTGCATCAAATAACAGCACAGGATACAACAAAATCACTTGC AGAAGACCTAACGCTCATAAATTCTAGGGTAATTGACATGACACTGAGGA AGGAAAGTTAGCTGATATTTTTGTTTACCAATCCATATGGCAGTGGAATA AAACAGTTTTAAAAATGTGTTTTTTGATAAATTTTTAAAATTTGAGAAAC ATGTCAGATTTTGCACAAATATTGAATTATTTCAAATTTGTAGAATCAAA GTCATAAATGGTTACAACCCAAGTAACCCCTCTCCCCATTTCTAGGTGAC AGGACTCGGCCAACACTAAGAGAATAACACACCCCTAAGCTGGACTTGGT CCTGGGCCCTGATCCTTAAGTAATAAACCTATTTCTTGGATGAGTTTTTT TTGTTTGTTTTTGTTTTAATCTCAGACTGCTATTCGTTAGTGGGTCGTGG AAGAATTAAATGGGCCGTGATTAAAATTAACAAAAGAGAACTGATTTCCA TAGCTAGACAGAATCTTAAGATGTTGGAATCAACAAGATGGATGATTTTA TTTGCTTGTACAACCTAAAGCCCTTTGTTCTAGGCAACCATATGAACCTG CTACTTGTGAGGGCATATAAGTCAGTAGGTGGCATACTTCACCATCAGAA TAATGTTCTTCAAACTAAATTTTAAATCTTGGAACTGCCTTGTGGATGAA CTGAGATGCCGCCCTGGGTTTTAGGCTAGCTTTGTCTCAGGCTGCCGTCT GGATTGAATAAGGGCATCTGCTTCCGCAGATACTGGCCTATTAGGGGAAG ACATTCTGGGGCACTATGGAAGAAGACAAAACGATTTTGAGTTTTAGCTC TTTTCAGACTAGTTATGCACCATTGGGGCAAGGTACATAATTTCACCAAG CCTTAGTTTTTCTGTAAATTGGAGATAACAGAAACAAGCTCATGGTGTGG CTGCAAGGATTACTATAAAGTGCTCACCACAGTCCCCATGGCAAAATTGG CATTCTATAAATATACCTAATATTTTATTATTAATTATTCTTATGAATAA AATTGATGTGGAAGGCTGCATGTTTAAACTAATTTCAAGGGCAATTCTAG GTTGGCTTCTCAGATGATCAGTTTCTTTTGGTACCTTTTATAAGTTCAGC AAGTAATGTCTGGCTTGTGCGAGGGGGGATTGAATACAATAAAATGGAAC CTTATTGATGAGTTTGAAGGTAAAATTCAAACTCAGGAGAGAAATGGTGA ATCACTGAATATTACATTTGTGATATTGGCTGTAACTAACTGAGTTAAGT TTAAGAGGGATAAATACA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02723.hp1 others(1): Show HG02615.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 others(1): Show a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262	4	350	0.0114	-2217	c.110 others(18): Show c.1108+480_1109-1567del	ZDHHC13	ENSG00000177054.14	transcript	ENST00000446113.7	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGAP42_chr11_100682288_100998941	100807056	CAGGCTGG others(2207): Show CAGGCTGGTCTCGAACTCCTGACCTCAGGTGATTGACCTGCCTTGGCCTC TCAAAGTCTGGGGATTACAGGCATGAGGCACCATTCCTGGCCCCTCATTT GTATTTTTTAATTGTGCAAAGAGCTTTTATATACATTTTCTTTTTTTTTT TTCTTTTGAGACAGACTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGG CACGATCTCGGCTCACTGCAACTTCCGCCCCCCAGGTTCAAGAGATTCTC CTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGCATCAACATGTC TGGCCAATTTTTGTATTTTTAGTAGAGATAGGCTTTCACCACGTTGGCAA GGTTGGTCTCGAACTCCTGACCTCAGGAAATCCACCCGCCTCGGTCTCCC AAAGTGCTAGGATTACAGGCGTGAGCCACCGGGTCCGGCCTTTTTATATA CATGTTATTTGATCCTTACAACAATCTGAAACAGCACAGCCTGTAAATGA GTTACTCAGTGTGATGTCGACCTCCAGTAAGTGACCACACTTTACATATA GGACCCAGTTCCAGGAGTTGGGGCTTGCAGCTCATTGTTCTGTTCTATCC CATGTCTTCTCTGGGAAGACATGGGATATGAGCTGCCACACAACACCTGC ACTTCTGATCTCTTTCCTCGCATCTCTAGTTCTTTCATTTTCCTGCCTTT GGCATTTATCCTAGTTTTATACGTTTTACTTTGGAGTCTTGTAATTGCAC ATCATATTGAAATCTTTCCATTTTTATCTTTGCACTTTTGGAAATACATT TACTCTCTGCTGTTGGCCATCACTTTCCATTGGTACAGTTGGGGAAGTGC TAGTCTTTATTCCATTCATAAACCATGTTTTGATGTTCTTCTTTGATACT TGGGAAGCACAAAGATACTTTGATAATATAAAAGGTAAATGTATATAAAG TTAGTGTGTAACTGTCCCTTAAAAGTTTAACATCTGGGTGAGGCACTCAA TTTTAAAGGACAGAAAAATAAACCTAAATAGGCATGAGGTAGACTAGCAA AATACCTATAAAAGATATCCTGAAGGGAAATTTTAAATAATGGTAACAAA GCTATGGATGAATGGGAAATATCAGCTGACAGACCAACCAGATATTCAGA AATAAGGGAACATTTTTTGGTTAGCACAATGCTTTTTGTCTTTGCTTCTG ATTAAACCATAGAGTATATTTATGCACTACAGAAGAAAATGCAAATTTAA CTTGATAATTTGATACATGTAATTTCAAGAGAAAGGGCAACAAAAGCTTT TTAAAATTAAACTTTTTTTGGGATAATTATAAATTCACTCTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGG ACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG CCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCA AATTCACTCTTAACTATAAAAAATAACTAGAAATCGGGTGTATTCTTTAC TGACAATTTCTCCCAATGTAATACCTCATAAAATTATAGTAAATAGTTCA TTACATTTTACTTGTTATAATAGTAATTAAAAATAACAAATTATTCATAA ATGTTCCCTTTTTCCTGGAATCAGGATTCATAATTTGAAAAGCCTAACTC TTAGGGGTTCTTATCAAGATGCTATGTTACTTCATCCTGTGATTTATCTG TGTGTCACCCAGGATACTCATTTGCAAGTCAAACAGGAAATTGGTTGGAA AGACATTGGGGCATCTCATTTATCTGTGAGAGGGCCCACATTGCTTGTGG GATTAAGAAACAGCCAGAATCACAAACTCTAAGGCCTCTAAGAGGTTTTT TATCTTTGCCTCTCATTTGCTTATCGGCCTCATTCTGTTAGCTGGCTTCT TCCACATGGTGAGTCATAAGCATTGTACTAAAACTCACAGAAATTGTTTC TAGATAGGATTGTCTAGTTTTTCATTTTAAGACAAGATGAAGAAGAAAGA AAAAGAAAAAAAGAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	286	0.0035	-2214	c.312 others(19): Show c.312+11894_312+14107del	ARHGAP42	ENSG00000165895.19	transcript	ENST00000298815.13	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
ZNG1C_chr9_68236983_68305035	68289057	TTAAAAAT others(2205): Show TTAAAAATGAGAAGGTGAGAATCTTATAGATGAGTAGGTCTCTGGTACAG AAGTCTTAGTGGAGAGTTGGTACTGGAATCCTGGTCTAAGGTATTAGGTT TTAATTTGCTAGACAAAGAAAACTCAAGCAGTGCTGTCTAGGAGTGTTAT GTAAGCTAGATTGGACTTTAGAGTCAGGAGACCATGCGGGAAGATACTGT GTGATAAGGGCCTGAAACATGTTGGTTACAGTGAGACTAGAAATGGGATA AATCCAGAGCTGTTTCACCAGTAGACTTGCCTGAATATCCTGTCTGACTG AGTATGGATCAGAAAGAAAAGAAGGGGTGATGGGAAACAAGCCTAGATTG ACTAGAGAAACCTAGAAATAGAAAAATCGGGAAGGCAAAGTGATTTGGAT GATAATGCCATATATTCAGTTGTCCCTGGTGGCCAGATATTATAGTATAG ATATTATACAGGCAAAGAAGAACAGAGGGATAGAGTGTGAAGGTACAGAT TTTGAGTTTAAGCACATTAGGGGGCTTAGTGTTCTGGATGAAGAAAACAT ATAAAAGTTATTGTATGTTAGGTATTGTTTGCAAAAGAGTAGAAAATGGA GAAATAACCCAGTGGGTTAAAGAAGAAACGGACTAAATAAACAAACCTGA GTAAGTTGTTCCTAAATTTTATTTTAGAGACAATTCCTCATTTTGCTTTA GTTTTCTCAATTATTGCCTCACTTTTCTGTTTCTTTCTGTGTCAGCATAC ATGGAAAAAGGAGTTAATTTTAGATTCAAAACAAAAACTGGAAAAAAAAA GTCTGAAATGGGTAATACCTAGGACCTAGTATATATGTGTTATTAAGGCT CTATCCCTGAATTTTTAATGCAGTTATCTATTTTTCATGGATTCTTTGTT TATTCCCCATAAGGAACACCTGGGTTTGGAGAGTGGGAAGGTAGATGAGA AAACCCAAGTGACAAATAATGTTTAGTTTATTATTAGAACCAACTATGAG TTGTGACCCTTATCTTCTGCACTGGGAATTACAGATTTTTTCAGGGTTTT TCTAACATGAAAAGAGTTTATTGGTGTAGGAAAACATCTGGTTCCAAAAT GTAGATCATCCTTCTTGAGCTTTAATTTTTAAAGCCTTTTTTGTCTCATA CTGGAGTTTATTGTACCCCTTAAAAATATTAAGTCACATATTTAACCTGT TAAAAGCAAAAATCATTATAAAAATCTTTAGGCTGGGTGTGGTGGCTTAT GCTTGTAATCCTAGCGCTTTGACAGGCCAAGGTGGGTGGATTACTTAAAA CCCAGGAGTTGTAGACCAGCCTGGGCAACATGGTGAAACCCCATTTCTGC AAAAAATACAAAAAATTAGCCAGGCATGGTGGCATGTACCTGTAATCCCA GCTACTCGAGAGGCTGAAGTGGGAGGATTGCTTTAGCTTGGGAGTTCAAA GCTACAGTAAGCCATGATTGTGCCACTCTACTCCAGCCTGGGCAACAGAG TGAGACCCCATCTCAAAAAAATTTATTCAGTTAAAATCTTTAACAATAAA GCAATTTTGAGTCGTATTTTGCGACATTCTCAATATAGTTTTCCAACTTG CATTAAAATACATTTTAAACATTTTTGAAGACTAAATTTATTTTTTTTTA ACTGACAGTTATGTTTCATTTGACAACCTTTTGCTGTATATTTTTATGTG GACTTTTAGGTATTGTAGTGATTCCTTTAATGAAGAAATAAAATAATTGT CATTTAAAAATGCATATTATTATTACCTTATGCTATAAAAATAGTTTTAA AATAGAGTATGTTTATTAAGATTTAAAAATAAGTATAGTCATGCACTGCA TAACAGCGTTTTAGTCAGACTGCATAAGATTACGATGGAGCTGAAAAATT ACTGTCACACAAATACTTACCATTGTGTTATTATTTCGATACACTGTTCA GTACAGTAACATATATGCTGTACAGGTTTGTAGCCTAGGAGCAACAGGCT AATACAGCATAGCTTAGGTGTGTAGTAGGTTATACCATCTAGGTTTGTGT AAGTGCACTATCATGTTTGTATAACAACAAAATTGCCCAACAGCTCATTT CTCTTTATGTATCCATGACTGTATATTTTTTATTGTGGTAAAAAACACTT AACGTGAGACCTACCTTCTTCCACAAATTTTTAAGGGTACAATATAGTAT TGTTAACTGTCTG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02559.hp1 others(3): Show HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02965.hp2 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0119 a0002c0002t0001g0304 a0002c0002t0001g0305 others(3): Show a0002c0002t0001g0119 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308	6	322	0.0186	-2212	c.816 others(17): Show c.816+3020_816+5231del	ZNG1C	ENSG00000196873.16	transcript	ENST00000360171.11	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NEU4_chr2_241804193_241822413	241805548	CGCAGGCC others(2204): Show CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTC CCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGAC CCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0008 a0002c0003t0002g0008	1	319	0.0031	-2211	c.-37 others(11): Show c.-3729_-1519del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3644		chr2	TogoVar
SQSTM1_chr5_179815905_179843078	179826251	CCCTCCTG others(2202): Show CCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCTGGGTAAGTGGG ATTACAGGTACCCGCCACCACGCCCAGCTAAGTTTTGTATTTTTTTAGTA GAGACGGGGTTTCGCCACGTTGGCCAGGCTGGTCTTGAACTTCTGACCTC AGGTGATCCACCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGA ACCACTGCGCCTGGCCTTGCTCATTCCACTTTGAGGCGGCAGTGACATCT TGGCATTGCTTCTGAACTAAACAGCCCAAACACGCATGGCTTCTGTACTA GAGTTTAGAGGTGAAGTCAGAGAATAGGAAAGAAGAATCGCTAGTCTGTT TTTTTTTTTTTTTCTTTGAGACAGACTTTCACCCTTGTCGCCTAGGCTGG AGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTTCCAGGTTCA AGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGTGCCCA CCACAACGCCTAGCTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACT GTGTTGGCCAGGCTGATCTCGACACCTGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGAGCCCGGCCAAGAATCAGTATTCTTAATG CTTTCCAAGGAGGGTAAACAGTGGAACACCGAGGTCATGATTGAGAGATC GGCTGTGCCTAAATCCTGCCACTCACTCTGGACGTAGTAAAGGTCTGAGA GATTGCCGGTGAATTTGGAGATATGAACAAGAGTCCTTCACTCAAAGAAC AAAGGAGACATCCCGGGAAGTCACAAAACCAAGTCTAGGTTCAGGTAGAG ACTTTTAAAACAGTGCAGATCCCCAGACCTTACCTTTTTTGATCCTGGTG AGTGAGTGTTGGTGGGGCCTGGGATTTGTCTGGGAGGCTGCCCAGGTGCT TGGGGTCACACTGTCTCAAGACCCACCTGTGCTGGTGCAGCATCTCGGAA CTGAACTGGACGCCCCACTTGGCACAGACAGGAATAATCTTGCAGATGCT CAGATGTCTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTG GAGTGCAGTGGCACGATCTTGGCTCCTGGGTTCACGCCATTCTCCTGTCT CAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCACCACCACGCCCGGCTA GTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTGGCCAGGATG GTCTCGATATCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCCAAGTGC TGGGATTACAGGCGTGAGCCACTGCACCCGGCCCTCAGATGTCTTTGAGC ACTAAAAGCTAAAGGCTTAAAGTGGATAGAATTGCTTTCTCCGAACTAGG GAGGAGCCTGAAGCTCTACAAACAAGGAATATTTCAGTAAAATAGACTGA GTGGTTTCAGCTGAGGAGAGCCAGTGGAGGAGCGGCTTAGACTGTTGTGG AAGTTAGGGCTAGTTTCTTTCTTTATGAGGAACTATAAGCTGGATGACTC ACAGGTTAACTGCCTAGAAGGGACTGTTCCCAGAGCAGGGCCCAAAGGGG AACGAACGAGTCAACAGCTGCCTCCCGGTGGCAGTGTGTGTAGGGTAAGC GGCAGCTTTCATGTGAAGTGCCAAGGCCTTTTGGTTGGGGGGCTGAGAAC CTGCTGAGGGAGCCACAACTGAGACCCAGGCTGCTCCTGGCTGGGAGGCT ACAGGCCCCGAAGCCACAGGGCCCCTCCTGGTCGTGGGATCTTTGATAAA CCGACACGCAGAGGCTTTGTGAGGCAGCAGGGCACGGAGCATCGTCTAGT CTTTTTTTTAAGTGAAAGCACATTTCTTAAGAAAGTAAAGGAATACAAGA ATGGCTACTCCGTAGACAAAGTAGCCTGTCCAGTCTTACGACAAGGCCTG AAAATCTCACGCTTTCATCACCAAGTTGGAGAGATCCTAATTCTATAATT TCTCTGATCTGCTTACAGGCGAGTCTCATTACCCATTTACAAAGCATATG GGTATTGATTGTACTATTCTTTCAACTTTTCAACTTTTCTGTTTGTTTCA ACCTTTTTTTTTTCTTATCTTTTTTTTTTTTTTTTTTTTTGAGACAGACT TTTGCTCTTGTTGTCCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACT ACAACCTCTG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0101 a0001c0003t0001g0101	1	462	0.0022	-2209	c.754 others(17): Show c.754+1031_754+3239del	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
EIF3E_chr8_108196216_108253717	108223721	CTGCCACC others(2199): Show CTGCCACCTTATCTTATATATTATGTTACATTTAAAAGTTCAACACTTTT CAAATGTGTAAATCATCTCCATTTTAGATTCAGAATAAATTATGGCAGAA ATGGTAATATATGTGATGTAAGAGACTTTAACCTGCACTGGTATCTAAAC TTTCATTTTAAGGACAAACGTATACATGATCTCTAACGTACTTTTATATT AAAAATAAAAAGTATGGCCAGGCACGGTGGCTCACACCAGTAATCCCAGC ACTTTGGGATTCCAAGGTGGGCGGGTCACGAGGTCAGGAGATAGAGACCA TCCTGGCTAACACGGTGAAACCCAATCTCTACTAAAAATACAAAAAAAAA AAGTAGCCAGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGAAGTGAGCC GAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGAGTGAGACTCCGTCT CAAAAAAAATAAAAATAAAATAATTTTTAAAAATATGCAATTTACAATCT ACATATAATATCCATTGAACATGCAATCAACCAACTACCTACTGTGCTAT AAGAAATTAGAACTACTTTTTTCATAAATCTTAAACAGAGACAACTGAAA AACACATACTGATTATAGATATACAAATGCAAATCACACACAATCTCAAC AGTAAATAGCTCTCCCACTTCAAGAATATGAAGTCCAGGAAATGGGTGAA ACAATGATCTGTCAAGTCAACTGGGTATATTTCCATTAGGAAAAAAGTCA GAATCAAGCAAAAATCAAAATCAGGCAAGAAGACTTAACAAGACAGAAAA TAAGACAGCAATCTGACCCTATAGCAAGTGAAAACAGTAAACACAGTACT TTTGTAAACAACTAAAAGTCATCATACTACTGAGTAGTTTTCTTTTCCAC AGGCTGTTTCTGTTCAAAGAAAATAGTTCCACAGGCATGATGGTTCTTAC TGGGGCAATAAAAATGTTCTAAAACTGACTTGTGATGGTTATATCACTCA GTTAAGTTACTAAAAATTACTAAACTATAAACAAACAAATTCTTCTTGTA CTTTAGAGTAAATCAAAGCAGTGGCATCAAACTATACTAGCAGTCCCTAT ATTTTTCACCACCACACTTTTGCAGTTTTAAAAAACACACAAAAAGTTTC AACTATGTCCTTGAATCACGTAGCCCAAATTAATTTTTAAAAACTTCAAC CCTTAAGTACTAATCTTTCTAGTCTTCTGTATGACTAAATGGTAAGTATT CATAAAGTGCTTCTGCTGTATACACACTTCACTGTCACGGCTGTCCTTAA GGAAAAGCACTTGTGCAACTGAGAAACAAGATGAACCAGCTGCTTTTCTC ACAGAACACTGTTTTTACTTGAAAGAATGGCAGACAAACTAAAGCTATTC AGACATTCAGACTTGGGAATTTGCCAGACATTTTCTAGAAAATGAAGTGA GCCTGTCCTTCAAGAAAAACAAATGATAAAATTAGAGCTTTCAAGAAAAA CTAGAATTTTGGAAAATTTGTATCAGCCACTGGGAGCTTGAAAGCTTTCC AATGCTTAAACCCGTTTCTATGGGTCTGGTAGTGATGTTCATGAATGTGG TTTTTCTGGTGTTGTATAATGTCAACACACTGGAATACCTGCATAACTCA CTGGACCAGTAAGTATTTCCCAAACAACCAATGAATGATACTATAAAATC ATGCATGGGTAAAAAAGATCCATTCCAAGTGCAAGATAGCTCAATACAGT CTAGAATACCAGTACAGCTTAGGATCCCAAAAAGTTTAACCACATGGTTT CAGATTCTACATTACAAACAACCTTTTAAAAACTATTTCTTGTTGAGTTT TATTTTATCTGTACTTCTTACTGAATTTTACTGTATCTTCAAAAAAGAAT ATTCACAATTATCGGAAAAGGATATTATTAATAAAACACACCTTTCTTTT CCAACTACATGTGTGAAGCTAGGTTTTTCATCCTACAGTTAAAGCACATC ACAACAGACTGCAAGAAAGCAGGCATGAAAACCCAGTTGTCAATTAACCC AGCAACTGAAGGTCTGCAAAAATGTAAAGCAATGTCACTCTTCTCACTAA TTTTGTTTTCAAAGTTACTTTCGTTAAAATTCTATTATGTGTTAAATTGA ATCAATT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG02559.hp1 others(5): Show HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02976.hp1 HG03139.hp2 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011	a0001c0001t0004g0021 a0001c0001t0004g0167 a0001c0001t0004g0170 others(5): Show a0001c0001t0004g0021 a0001c0001t0004g0167 a0001c0001t0004g0170 a0001c0001t0004g0173 a0001c0001t0007g0168 a0001c0001t0007g0169 a0001c0001t0007g0172 a0001c0001t0011g0171	8	348	0.0230	-2206	c.722 others(17): Show c.722+2340_722+4545del	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	7/12			chr8	TogoVar
RAB27B_chr18_54823477_54900516	54834719	GAAGAGAT others(2199): Show GAAGAGATAGAAACATATGAACTCTATAATAGAGGGAAAATTTCATTTTA AAACGTTTAGGGAAAAAGCATAAGACTTTATTTTAGTCCTCTTTCTGGCT TCGTTCTAGCACATAAATTTATTTTCAATCATATTGAACTTGGGGTCAAC TTAATCTGTTTTCTTCTTGTTTCTCTCCTTAACTTGCTCAGAAAAAAAAA TGAGATTATGTATTAAATCTGACCTGAGGGATATACCAGAACAATAATAA TTAGTAAAAGCAAAATCAGCTTGTATTATATTTGCCCAATCTAACTTAGG CAAGGTAATCAGAGCCTGAGAAGTTCATTAAATGAATTATTCAGTTCTTA TGGTCTATTATTCAAAATATATTATTTTCATAAACAAAATGGACTGTTGA TAAGTGTTCCTGTACATATATAAATATTAAAAATACAAAATGAAATTAGA TTTTTCAGAGGGAAAGAGAAACTAGTCATGTCTTAGTGCCTTTGAAAAAG TAGACACGTTTTCTAATATTAAGAGGTGCCACATATTGACTCAGGTGCCT CCTTGGAGTAACTTAAGCCTCTAATTTTCTGGAACTTTCTCCCAAATGCT GCAAAATATAGGAGCAATGCAACCTGTTTGCAAATTTATTAATTCTTTAA GCGAACTAAAGATAGATATCACAGCTAACTGTATGGAAACTGTAATTCCC AGTCCCTATATCTATCCCTTTCTCACTCAATCTTTGATCTTAATCTTCCT AAGGTTTGTAATACCTATTCTCAAATACTGCCTCTCAAGGTTTGGAAGTA AACGCTTCTATTAGGAAGAACCTAGGAAACAACACTGCAAAACATACGTT ACAGGAAAAAATTGCTGTAACGAAAATATTCTCATATTTATAACCGAGGG TTAAAACGTAATAAAACAGACTTAAATAAATAGGCCATCATGTTTGAAAA GTCTATTCTTTAATCTTCAGTTGGAAGCAAGATGCTAGTTGATGAAGCCT GCATAGCAGTAATAGTAATAAGATGAAATGAGCAACTTTGGGTTTGCTTT TCTCGTGTAAAGTCACTAGGCCATCATCAGATGCTACTTATTTTGAAATT GGCCTATACAATCTCCCCAGATCTCCTTTGCTGTATTTTATTTTTTCACT TACCTACTAGGAAAACCAAGAAGACAAAAGTAAAATGCACCCAGCAAGTA CTCATTAGTATTGTTTCTGAACACGCTTAATTTGGGTGCCCTCAGGAATG TACGTACTTGATGAGAATTTATGCATCTGTGATTACAGAGCAGCTTATAT TTAGATAAAGGTGAGGAGGAGATGAAAAATGGATAAAGACAGAACATACT GATCACTAGGTGCAGGTACACCAACCTGCAGGCTTTGTGTCCTTTGTAGA CTTGGAGAAACCTTGCTGGGCATCTGTTTCCTGTGCAAGCTCTGAGGAAG TCATAAAATTCTACATTGCGGTTTTCTTTGGAAAGTGATTAAATGATAAT AACTGAGTTGCTTTGAAGATGAATTTCCCTCAAATTATATTGTTATTCTG CTTCCCAGCAGATCTTCTTATCAAGTGTATTTTCCATGGTTCTGATTCCT TACAGTTTTCACCCTTTCAAAGTTCACTTTGACTTTTAAGGTAGACTTAT GCATGAGGCCAGGGACCCAGAAACCAGTTTCCCATTCTTCAGTTCTAGAT GGTGTTAGATTCTAGTGATTTTAGTAAAACAAAGCCTTCAAGGTCTAAGT AGTCCAGAGCAGTGAGGTTGATTCTTAAAATCAATATCGTAAATATTGAG ACACATGAAGGTATAAGCTTGGCAACTTGAGAACAGAGAACTAACTCAAA ATAGAAAAGGAACAATTAAAATTCATAAATATTAACTATATGTTTAAAGA AAGATGTTCTGTTTGCATTGCAATATTTTATAACCAGTAGAATATTTTTG ACTTATTTTTCAGGAATCATGTTTTCTAAAAGTGTGTAGACATTAAAATC GGAGGATTTAAACATAAAACTGCTTTCTAATTGGTGTTTTCCACAGTAAA CATGCATTGTGCATAGTCACTTGATCCAAAAGATGAAAATAAGAAATCCA AGAATTAATGACATGCTTCAAGGAGCAAAATTTCTGCCTGTTGTAGGACA TTATAAACATTAGGAAAAATGTTAAGTTGGTTAAAGCTGATGATGTTATT ACAACAA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp1 HG03540.hp1 HG02647.hp1 HG02818.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102	3	334	0.0090	-2206	c.-20 others(17): Show c.-20+6024_-20+8229del	RAB27B	ENSG00000041353.10	transcript	ENST00000262094.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
GABRG1_chr4_46030769_46129054	46053973	CAATAGTC others(2198): Show CAATAGTCTCCCATCGTTTAAATCTTTAATCCATCTTGAATTGATTTTTG TATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGC CAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTT GTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTA TTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTAC CAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTC AGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGG CGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCC AATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCT GTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCCTA CCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTTCC TTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGT AAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGA GTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGAAT GCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTTGCTGAAGTT GCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTTCTAGAT AAACAATCATGTCGTCTGCAAACAGGGACAATTTGACTTCCTCTTTTCCT AATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAAC TTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCATCCCTGTCTTG TGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGATA TTGGCTGTGGGTTTGTCATAAAAACCCTAGAAGAAAACCTAGGCATTACC ATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGC AATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGA GCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACA ACATGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATC CAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACC CCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGAC ATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCAT CAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTA GAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGT GGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCA ACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAA TACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTAT AAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACT ATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAG ACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCC ATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGA AACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCA TATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGG AAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGGAGGGGGG AGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGT GCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAAT GTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAGAAA GGAAAAAAAAAAAAATAAATAAATAAATTAAAAAAAAAAAAAAAAAAAAA AAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(136): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01109.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18954.hp1 NA18965.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA19004.hp2 NA19010.hp1 NA19030.hp2 NA19063.hp1 NA19070.hp2 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19087.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0004c0008	a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 others(18): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0006t0017 a0004c0008t0003	a0001c0001t0002g0152 a0001c0002t0002g0001 a0001c0002t0002g0042 others(132): Show a0001c0001t0002g0152 a0001c0002t0002g0001 a0001c0002t0002g0042 a0001c0002t0002g0056 a0001c0002t0002g0060 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0098 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0156 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0198 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0242 a0001c0002t0002g0245 a0001c0002t0002g0252 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0258 a0001c0002t0002g0263 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0273 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0287 a0001c0002t0002g0291 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0048 a0001c0002t0003g0063 a0001c0002t0003g0089 a0001c0002t0003g0090 a0001c0002t0003g0195 a0001c0002t0003g0197 a0001c0002t0003g0210 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0233 a0001c0002t0003g0238 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0272 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0026 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0036 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0005g0004 a0001c0002t0005g0057 a0001c0002t0005g0058 a0001c0002t0005g0059 a0001c0002t0005g0069 a0001c0002t0005g0078 a0001c0002t0005g0124 a0001c0002t0005g0158 a0001c0002t0007g0052 a0001c0002t0007g0053 a0001c0002t0007g0054 a0001c0002t0007g0298 a0001c0002t0007g0299 a0001c0002t0007g0300 a0001c0002t0008g0007 a0001c0002t0008g0008 a0001c0002t0008g0015 a0001c0002t0011g0013 a0001c0002t0011g0014 a0001c0002t0012g0020 a0001c0002t0012g0021 a0001c0002t0013g0190 a0001c0002t0013g0191 a0001c0002t0014g0248 a0001c0002t0014g0249 a0001c0002t0015g0016 a0001c0002t0016g0012 a0001c0002t0018g0162 a0001c0002t0019g0080 a0001c0002t0020g0288 a0001c0002t0021g0105 a0001c0002t0022g0076 a0001c0002t0023g0262 a0001c0006t0017g0282 a0004c0008t0003g0196	139	308	0.4513	-2205	c.916 others(17): Show c.916+2039_917-2336del	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	7/8			chr4	TogoVar
GCFC2_chr2_75657705_75715915	75681314	GGAAGCAC others(2198): Show GGAAGCACAAGGGGTTGGGGAATTCTCTCCCTTATCTAAGGGATGCCACG AGAAACCGTGCCAGGAGGAACAGTGCACTCCAGCCCAGATACTGTGTTTT TCCCACGGTCTTCGCAACCGGCAGACCAGGAGATTCCCTCCAGTGCCTAC CCCACCAGGGCTGTGGGTTTCATGCACAAAACTGGGTGGCTGTTTGGGCA GACATCAAACTAGCTGCAGGCTTTTTTTTTAATTTTTATTTTTTCATACC CCAGTGGCACCTGGAACGCCAGAGAAACAGAACCATTCACCACCCTGGAA AAGGGGCTGAAGACAGGGAGCCAAGTAGTCTGGCTTGGTGGGTCCCACCC CCACGGAGCCCAGCAAGCTAAGATCCACTGACTTGAAATTCTCACTGCCA GCACAGCAGTCTGAGCCCAACCTGAGATGCTTCAGCTTGGTAGGCGGAGG GGTGTCCGCCACTGCTGAGGCTTCAGTAGCCGGTTTATGCCTCACAGTGT AAACAAAGCCACCGGGAAGTTCGACCTGGGCAGAGCCCACCGAAGCTCAG CAAGGCCACTGCGGCCAGACTGCCTCTCTAGACTCCTCTTCTCTGGGCAG AGCATCTCTGAAAAAAGCCAGCAGCCCCAGTCAGGGACTTAGAGATAAAA CCCCCATCTTCCATGGACAGAGCACCTGGGGAAAGGGGTGGCTGTGGGCG CAGCTTCAGCAGACTTAAACGTCCTTGCCTGACAGTTCTGAAGACAGCAG TGGTTCTCTCAGCACAGTGTTCGAGCTCTGCTAAGGGACACACTGCCTCC TCAAGTGGGTCCCTGACCCCTGTGTATCCTGTCTGGGAGACACCTCCCAG TAGGGGCCGACAGACACCTCACAGAGGAGAGCTCTGCCTGGCATCTGGCG GATGACCCTCTGAGACGAAGCTTCCAGAGGAAGGAACAAGCAGCAATCTT TGCTGTTCTGCAGCCTCCGCTGGTGATACCCAGGCAAACAGGGTCTGGAG TGGACCTCCAGCAAACTCCAGCAGACCTACAGCTGAGGGGCCTGACTGTT AAAAGCAAAACTAACAAACAGAAAAGAATAGTATCAGCATCAACAAAAAG GATGTACCCTAAGAGACCCCATCTGAAGGTCACCAACATCAAAGACCAAA GGTAGATAAATCCACAAAGATGGGGAGAAACCAGTGCAAAAAGGCTGAAA ATTCCAAAAACCAGAATGCCCGTTCTTCAAAGAATCACAACTCATCACCA GCAAGGGAACAAAACCGGATGGAGAATGAGTTTGACGAAGTGACAGAAGT AGGCTTCAGAAGGTGGGTAATAACAAACTCCTCTGAGCTAAAGGAGCATG TTCTAACCCAATGGAAGGAAGCTAAGAACCTTGAAAAAAGGTTAGAGGTA TTGCTAACTAAAATAACCAGTTTAGAGAAGAATACAAATGACCTGATGAA GCTGAAAAACACTGCATGAGAATGTCGTGAAGCATACACAGGTATCAATA GCTGAATCGATCAAGTGGAAGAAAGGATATCAGAGACTGAAGATCACCTC AATGAAATAAAGCGAGAAGACAAGTTTAGAGAAAAAAGTGAAAAGAAACA AACAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTATGT TTGATTGGTGTACCTGAAAGTGATGGGGAGAATGGAACCAAGTTGGAAAA CACTCTTCAGGACATTATCCGGAAGAACTTCCCCAACACAGCAAGGCAGG CCAACATTCAAATTCAGGAAATACAGAGAACACCACAAAGATACTCCTCG AGAAGAGCAACCCCAAGACACATAATTGTCAGATTCACCAAGGTTGAAAT GAAGGAAAAAAAGTTAAGGGCAGCCAGAAAGAAAGGTTGGGTTACCCACA AATGGAAGCCCATCAGACTAACAGCGGATCTCTCTGCAGAAACCCTACAA GCTACAAGAGACTGGGGGCCAATATTCAACATTCTTAAAGAAATGAATTT TCAATCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGCAAAGGAA AAATAAAATCCTTTACAGACAAGCAAATGCTGAGAGATTTTGTCACCACC AGGCCTGCCTTACAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGTA CAACTGGTACCAGACGCTGCAAAAACATACCGAATTGTAAAGACCATCAA CGCTAT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp2 HG02055.hp2 HG02647.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0053 a0004c0003t0002g0069 a0004c0003t0002g0053 a0004c0003t0002g0069	2	404	0.0050	-2205	c.169 others(19): Show c.1691-3205_1691-1001del	GCFC2	ENSG00000005436.14	transcript	ENST00000321027.8	protein_coding	11/16			chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805204	CCACCTTC others(2196): Show CCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC GCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGA AGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0107 a0002c0002t0002g0107	1	314	0.0032	-2203	c.10 others(11): Show c.1039_*3241del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		918		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805204	CCACCTTC others(2196): Show CCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC GCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGA AGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0146 a0002c0003t0002g0146	1	319	0.0031	-2203	c.-40 others(11): Show c.-4073_-1871del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3988		chr2	TogoVar
TRNT1_chr3_3121940_3154023	3131463	AAACTGGC others(2196): Show AAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACAC CTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTTAGACCT AAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACAT AGGCGTGGGCGAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAA AAGCCAGAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACA GCAAAAGAAACTACCATCAGAGTGAACAGGCAACCCACAACATGGGAGAA AATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACA ATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTG CTATAAAGAGACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAG AAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGA TGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTC TCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTC ATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATAT CACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATT GGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAG CATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAGTATAATAAAAAAAAAAAAATTAAAAAAATAAAAAAA AACATATACCTATTGAAGGAAAAAAAAAAAAACACAAAAAAAAAACACTG GATTTTCTCCACCCTGAGAAATGAGGTCCTAAGGAAGTTAGAGCCTAAAT GGTGTGGTAAGGTAGAGGTGGTGATTGCTTCCAGAGTCCTGTCCTTGAAG GACTGGCAAATGAGAACATGGATATATTCTAAAGTTGACTTTTTCTAGGC TACTGGAGAAGTGGCAAGAATGGAATCTTTTAGTGCAATGATCAACAAGT TAGAATGTCAAAGACTTGGGTGCCCTGGTAAAATGTAATGTTCTGTATAA AATCAAAATGTACAAAAACACACAGCCTTTCTGATGGCTGCTATATAGTG ATACTTGGAGTTTAAATCCTGTACCAATTTTCAAATCTTAATAGCTGCTT TGCCATGTGTAAAATTAGTTTTCAGTATGCAAGAATATGAGAGACTAGAA TAGTGTATTATTGTCATATCATAAGGGTTTTATAATTTGTCAGGTTATTT TATGTATCTTTTTGCTTCAGTACAATCATATGCTAGTGGCATAGAAGATT ATTTCCCAGCTAGCTGTGGTAGCTCATGCCTATAATCTCCCAGCACTTTG GGAGGCCGAGATGGGAGAATTGCTTGAGCCCAGGAGTTAGAGACCAGCCT GAGCAACATAGTGAAATCCCATCTGTACAAAAATAATAATAATAAATTTA GCCAGTTACAGTGATGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAG GCAGGGGGTTCCTTGAACTTGGGGTCAGGGCTGCAGAGTGAGCTGTGGTG GTGCCACTGCACTCCAGCCTGGATGACAGTGAGACCCTCTCTCAAAAAAA AAAAAATGAGAGACTATTTTTCTGTCCTAGAGATGAGGCTGAAGTTCCCA ATGCAGACGATTTTTGCCTGAGCTAACAGCATTAATGGATGAGCAAGGAC TTGT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02165.hp2 NA18940.hp2 others(5): Show HG00609.hp2 HG02165.hp2 NA18940.hp2 NA18961.hp2 NA18965.hp1 NA18986.hp1 NA19010.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0132 a0001c0001t0006g0211 a0001c0001t0006g0013 a0001c0001t0006g0132 a0001c0001t0006g0211	8	402	0.0199	-2203	c.148 others(17): Show c.148+2276_149-3594del	TRNT1	ENSG00000072756.18	transcript	ENST00000251607.11	protein_coding	2/7			chr3	TogoVar
ATAD3A_chr1_1507162_1539685	1508183	AGCCACAG others(2194): Show AGCCACAGTGGCGGTACGGCTCCAGTCAGTGTCTCCTGCGCTCCTGGGCC CCTGACCCACAGTGGTGGTCCAGCTCCGGTCAGTGTCTCCCCACACAGTG GCTCTTGGCGAGGGATGGGCGCTGGCAGAGGGGACGGGCACCACGTGGTC ATCCCCATGGCAGGTTCTATCGTGGCGACGGTGTTGTGGGAGGATGGTGT GCTGCTGCCCCTGCACCCCGTGAGATGAATCCTGCCTCTGGGAGGCATAG CTGGGATGGGGCTAGGGACCCGCTCAGCTGTCCGGGAAGGGTCCCCTGCC CTGTGCTTCCTCCAGGCGTCCTGGTGCCCTCCTGAGCACGGCGCCCAGTG GGGGTCCCCACACCCTGACCCTGACCCACGGGTGACTCCCTTTGGGGACT CCATGCCCTTTTCTGGCATTAGGATGGAGAGTGACCTGTCTGGCAGAAAG GCTGGACCTGAGGCTGCCTGAAGCGACACCGAGGGCCACAGCCCCAGCAG CTCCAGCCTTCACATGCTAGATGCCAAGCCCTGTGCCCAGGAGGACAGGA AGGTGGGGCAGGGGTGGCCTTGGTGCCACCAGCCACGTGCCTCAAGGTGG GCAGTGGCTGCCTCTGCCCTGGAGGCCTGTGAGGGTCAGGGTCTGAGGGT CTGAGGTGCACTATGACCCGGGGGCACTGCCTGGCCACGGCTGAGACACG CAGAGGGTCTGCAGTTCCCACCTGCCTCTCGGAAGCTGCCCTGGGTCGGC CGTCAGTGAGGCTCCGCCTTGGGCTTTCTATTATTAGAAAGTCATTGAGC AACAGCAGTGCTGAGGACGCAGGCAGGGCTGTGGGCACTGCAGGGGCTGC CCCCGGTGTCCACACACGTGCTGGGCTCTGCCGAGGTGCGGGAAGCCTGT GTTTCACGCTCAGGCCATCCTGGAGCCCCTGGTTTGGTCCCTCCCCACCT CGGGGCCCTGGCGTGCATTTGGGGTGGGGGGTTCCCATGGCGGCCTCCCT CAGCTCCCTCTCTCCCCACTAGGCCACGGCGTATGCCTCCGAGGACGGGG TCCTGACCGAGGCCATGATGGACACCCGCGTGCAAGATGCTGTCCAGCAG CACCAGCAGATGATGCGCTGGCTGAAGAGGGGGAGGCCTGGGCCCGAGGA CGAGCAACCCTCATCCTGAGTCCATGGGGAGACCACACCTCACGGAGCCT GGCCGCGGACCCCTCCCACCCCTGCCTTTGCGGCCCCGCACATTTAGGAA ATACTCCCCGTAATAAAGTCCCACGGGGGCCGCACCGCTGTGTCTATTGG CTGGGGCGGGGTTTGGGGCCCCCTAACGTCCCCCTGGGGTCAAAGGTGAC AGAAAAGGCAGAAGCTGGGGCTTTCTGGAGGATTTAACCACAGAGGGGTG GGCTGCACAGGAGGTGCCTGCCACGGCAGGGCCGGGTGCCCGTGCCCCAT CCTGAGGCCGTGCATACGCGGGTGCCCTTCGCCTCCCTCCCCTCCGCCAG AGCTGCCTGTGGCCAGACACACGGTGGAGGGAAGTGCACGCGAAACAGAC ACAGCGGCTTCAAATAGATGCCGCCCCTGCCCGCGCTTTGCAGCTAGTCC CTGCAAACCTTGATGATGGGGCTGGGCGCGGTGGCTCACGCCTGGAATCT CAGTGAGGCCAAGGAGAGTGGATCACCTGAGGTCAGGAGTTCCAGACCAG CCTGGCCAACATGGTGAAACCCCATCTCTCCTAAAAAAAAAAAAAAAAAA ATTAGCCGGCCGTGGTGGCAAGTGCCTGAAATCCCAGGTACTCAGGAGGC TGAGGCAGGAGAATCACTTGAGCCTGGGAAGTGGAGGTTGCACTGAGCTG AGACCATGGAATTGCACTGCAGCATGGGCAACAAGAGTCAAACTCCCTCT AAAAAAAAAAAAAAAAAAAAAAAGGGCCAGGTGGCACATGCCGGTGGTCC CAGCTTCTTGGCTTGGAGGCTGAGGTAGGAGGATCGCCTGAGCATGGGAG GCAGAGGTTGCAGTGAGCTGAGATCGCACCATTGCACTCCAGCCTGGGTG ACAGAGTGAGACCCTCTCAATAAATAAATAACCAAAACCTTGATTACAGC CATGGGGTGGGGGTGGGGGGACGTCTGGCTATTGCTGGGGAAGTCATTTG GTTTTTCTCCTCCTCTCCTATTTTTTTGGTACAGACGGGGTCTCTCTTTG TT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02809.hp2 HG03130.hp1 others(2): Show HG02622.hp2 HG02809.hp2 HG03130.hp1 HG03130.hp2 HG03471.hp2	a0005 a0006 a0005 a0006	a0005c0009 a0006c0017 a0005c0009 a0006c0017	a0005c0009t0008 a0006c0017t0008 a0005c0009t0008 a0006c0017t0008	a0005c0009t0008g0045 a0005c0009t0008g0046 a0005c0009t0008g0047 others(1): Show a0005c0009t0008g0045 a0005c0009t0008g0046 a0005c0009t0008g0047 a0006c0017t0008g0018	5	420	0.0119	-2201	c.-40 others(11): Show c.-4085_-1885del	ATAD3A	ENSG00000197785.14	transcript	ENST00000378756.8	protein_coding		3978		chr1	TogoVar
GALNT9_chr12_132191372_132334589	132231473	CAGAGGAG others(2194): Show CAGAGGAGACAGCGTGGAGCCCCTACTGCCACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGGGACAGCGT GGAGCCCCTAGTGCTACACACTCGATGGGGCGACAGAGGAGACAGCGTGG AGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAG TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTA CTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGTGACAGGGACAGCGTGGAGCCCCTAGTGCTACACACTCGA TGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATG GGGCGACAGAGGAGACAGTGTGGAGTCCCTAGTGCCACACACTCGATGGG GCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGC GACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGA CAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGTGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGTGTGGAGTCCCTACTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGTGTGGAGTCCCTACTGCCACACACTCGATGGGGCGACAGAGGAGACAG CGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTG TGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTG GAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT CCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCC TACTGCCACACACTCCATGGGGCGACAGGAGACAGCGTGGAGCCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTACTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCG ATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGAT GGGGTGACAGAGGAGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGG GGCGACAGAGGAGACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGG CGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTG AG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02615.hp1 others(2): Show HG02055.hp1 HG02109.hp2 HG02615.hp1 HG02809.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0017 a0001c0001 a0001c0016 a0001c0017	a0001c0001t0001 a0001c0016t0001 a0001c0017t0001 a0001c0001t0001 a0001c0016t0001 a0001c0017t0001	a0001c0001t0001g0072 a0001c0016t0001g0054 a0001c0016t0001g0147 others(2): Show a0001c0001t0001g0072 a0001c0016t0001g0054 a0001c0016t0001g0147 a0001c0017t0001g0049 a0001c0017t0001g0148	5	183	0.0273	-2201	c.107 others(21): Show c.1077+14236_1077+16436del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
RNF213_chr17_80255852_80403794	80313699	GGATGGTG others(2193): Show GGATGGTGGTGATGGAGGTGGTGGTGGTGGAGGTGACAATGGTGATGCTG GTGGTGGAGGTGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGAT GGTGGAGGTAATGGAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGTAC TGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTACTGGAGGTGATG GTGGTGGTGGTGGTGATGGTGGAGGTGGTGGAGGTAATGGAGGTGATGGT GGTGGTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAAGG TGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGATGGTGGAG GTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGT ACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTACTGGAGGTGA TGGTGGTGGTGTAGGTGATGGTGGAGGTGATGGTGGTGGTGAAGGTGATG GTGGAGGTAATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTACT GGAGGTGATGGTGGTAAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGG TGGACGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTG GAGGTACTGGAGGTGATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGA GGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTAA TGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGAGGTGATGGTG GTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGA GGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTAATGGAGG TGATGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTC GTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGA GGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGA TGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTG ATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGT GGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGAGGTGATGG TGGAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGTTGGTGGAGGTACTG GAGGTGATGGTGGTCGTGTAGGTGATGGTGGAGGTGATGGTGGTGGTGAA GGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGG AGGTAATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAG GTGATGGTGGTAAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTAAA GGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGACGTGATGGTGGAGG TAATGGAGGTGATGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTG GTGGACGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGA GGTAATGGAGGTGATGGTGGTGGTGGTGATGGTGGAGGTACTAGAGGTGA TGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTG GTGGTGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGT GGTGGTGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGG TGGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTG GTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGT GGTACTGGAGGTGATGGTGGTCCGTGGAGGTGATGGTGGTGGTGGTAATG GAGGTGATGGTGGTGGTACTGGAGGTGATGGTGGTGGTGAAGGTGATGGT AGAGGTAATGGAAGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGG TGGAGGTGACAGTGGTGATGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGAGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGT GGTGGTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGAAGG T	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0026 a0026	a0026c0100 a0026c0100	a0026c0100t0037 a0026c0100t0037	a0026c0100t0037g0254 a0026c0100t0037g0254	1	292	0.0034	-2200	c.281 others(18): Show c.2811+570_2812-1252del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
ZFAND3_chr6_37814727_38159624	38157424	TAAAAGGC others(2193): Show TAAAAGGCCTTTTGAGTTTTCGACCTGGAAGGACCCCACACCTCAGGCTC CCCTCCTGGCCACCTCTTCCAGGCAGCTCTATCAATCCTAGCAGTGAGGA GTGCAGTTGAAGGGGCCTGGGGCACACATCACAGGGTTCGATGGGAGAAC TTGCTGACAGGGAGCTGGAGTGTCTCTGGAGTCCTCAGGCCCACATCCAC CAAACACCAGGAGGAGCTGAAGAGGAGGGACTCCCAGACTAGGAGGAGAG GGATCTGCTGTGTATGACAAGGTGCCCAAGTTCGGGGTGGGGGTGGGGAC CAAGACATAGACCCCAGAGGTAAAGCTCTGGGTCTGCACCGTGGCAGCCC CATTAGGGGCATCTTCCAGCCCACAGCCCTGGCTAGGGTGACCTTCATTC AACACCTGCTATATGCCAGGCAGCATCCCAGACACTGGGGATATGATGGT GACCCAAACTACAGCTATAGGGAACAAAATAAGGGCAGTGCAAAGAATAT TAGAGGGGTGACAGGCATACACGATACGCAGGGGGAAGGGAGCAGGGGGA GAAGCATAGGGTCTGAGGGTCTTTGTCTGCGATGGGCATGGAGGGCCCTG CCTGCCGCTTGGGGGTTCGGTCAGGCTGCCACTGTGCGAGGAACAGCCTG CAGGGAGTGAGGGAGGTACACAGACCAGAGGACCGGCTGGCTGGTCCGGG AGGCCAGCAGGAAGGCTCAGTGCTCCAAGGTGGCAGGGAGGTGGTGAGAA GAGCAAGATCCTGGACTGATTTTTGAGGATGGAGATAGCAGGAGTCGCCG ATAGGCTGGGTGTGGGTGAGAGAAGAGAGGAACTATAGACAATTTCTAGT TTGGAGTGTGAGCCGCTGGAAAGATAGAGATGCCGTTAATGAACGACAGG CAGGAGCGTGAAGGGGGTGGGATGAGAGCAGACGGCTGAGGTGTAGACGA GACACCCAGCTAGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGG CGGGGCTGGGGGGTTGGGGAGGTGGTGCCTGGATACACAGTTCCAGGGCT CAGTGGAGAGGTCCTGGCTGGAGATGGGCATTTTTCCCCAATAATTTTTA TGGTAGTAAAATATGCAGAACACGCAGTTTCCCTTCTGAACCATCTTTAA GTGTACAGTTTAGTATTATTCAATCTATTCATAATGTGGTGCAACCATTG CCACCGTCCATCTCCAGAACTGGAAGTGGAATCATACAGTACTCGTCTGT TTGTGTCTGGCCGATTTCACCCAGCACGATGTCCTCCGGGCTCATCCACA TGGTAGATATGTCTGTGTCCTTCTTAAGGTGGATGCTACTGCACCGTATG ATGAAACACACGTGCTTGCCCACCCCTTTGTCAGTGGGCACTGGGGTTGC TTCCATGTTGTAGTTACTGTGAATGAGGCTGCTGTGGATGTCGGTGTACA AATGAGATACACAGTTTCGAGTCACCTGCATAGAGCTAGTATTTAAAGCC ACAAGCTGGGCCAAGGACACCAAAGAAGGGAGTGTAAATGTAGAAGAGAC GGATGGAGGCTGTGCCTGGGGATGCCATCCAGAGGGACGGAGGAACCTGC AGAGGAGACCTAGAAGAAGCTGCCAGCAAAGCAGGAAGAGACAGAAAGAT GGGAGTCCCAGAAGCCAGGCGGGGAAAGGAGCATTTCGAGGAGCAGGGAG TGGCCACTTCTGTGAGCTGCTGCCCAGGCACCAACCGTCCCGGCGCTGGG GACCAATTCCTGGGGAGGGAGACTGGAAAGGTTGCCCAGCTGGACCTCTT CTTCAAGCAGTTTTGCTACAATGGAAGCAAATGGGCAGGAGAGTGGATGT GGGGGCGAGGGAGTTTACTTTTGAATAAGGAGAAGTTGCTGCATGTTTTT ATGCTGTTGGAATGATCCCGTAGCGAGGGAGAAATTTGGGATCGATGCCC ATGATGGGGTGTAGAGCGCAGGGTGGCAGGTGTGGGCACAGGGCAGGCAA GCGGGGGTGGTATCCTTCTGCTCTGTGTTCTCACGGACATATGGAACAGG GTCGTGAGGAGTGAGTGAGGTTGGGTGAGGGGGTAGCAACAGTTTGGTGG GGCACTGGCATGGATTTACCGGGAGACAAAGCCTTAGCTTGAGGCCCCTC ACTCGTGATTGGGCCTCGGCAATGTGTTTGCATGTTCCCAAGATTTTATA A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	318	0.0031	-2200	c.50 others(11): Show c.5036_*7235del	ZFAND3	ENSG00000156639.12	transcript	ENST00000287218.9	protein_coding		2801		chr6	TogoVar
PRSS57_chr19_680546_700452	696664	CTGGGATT others(2189): Show CTGGGATTACAGGTGCCCACCACCACGCCCCGCTAAATTTGTGTGTTTAG TAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACC TCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCCT GAGCCACCGCGCCCAGCCCGGCAGGTCTTCACCTTTCAGTGGGAGCGTTC TTAGTGGCAAAGTTCAGGTCGTAAATTGCAGCTCACACAGCCGGGTGATG GCGTTCACGGCAGTGGCTAGCAGTGGGGTGCTCGTCAGCGCTTAATAATG AACAGGCTGGGGCCGGGTGCAGTGGCTCACGCCTATAATCCTAGCACTTT GGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCC TGGCCAACATAGTGAAACCCCGTCTCTACTTAAAGTACCAAAATTAGTCA GGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATCGCTTGAACCGGGAGGTGGAGGTGGCAGTGAGCCAAGATTGCAC CATTGCACTCCAGCCTGGGTGACAGAGCGAGACACCATCTCAAAAAAAAA AAAAAAAAAAAAGTCATCATTGAACGCTCCAGACCTGTGTTTTACCAAAT GTAAAGTGTTCTCAATAAAGAATGAAGTGAAATGAAGCAACAGGAAATGC GTGGAAAGGAAGGTATGAAAAGGCCCCACAACGAACTCGGGCTCTGCGAG ATGCGGGCGGCCTCTGGAAGCTAAAAAACGGCAGGAAACGAATTTTCTCC TGGAGCCTCCGGGAAAAGCCAGCCCTACCGATGCCCTGACGTTAGCCCAG AAGGGCCTGCAGGGGCTTCTGACCTCCAGCACTGCCAGAGAATAAATTGG TGCCATTTCGTTTATTATTATTATTATTATATTTTCTTGAGATGGAGTCT CGCTCTTTCGCCTAGGCCAGACTGCAGTGGTGCGATCTCGGCTCACTGCA AGCTCCGCCTCCTGGGTTCATGCCATTCTCCTTCCTCAGCCTCCCAAGTA GCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTGATATTTTGTATTTT TAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTG ACCTCGTGATCTGCCTGCCTCAGCCTTTCAAAGTGCTGGGATTACAGGTG TGAGCCACCGCGCCCAGCCTCATTTATTATGTATATATTTATTTTGAGAC AGGGAGACAGGGTCTTGCTCTGCCGCCCACGCTGGAGTGCAGCAGTGCAA TCAAAGCTCACTGCAGCCTCGACCTCCTAGGCTCAAGCCATCCTCCCACC TCAGCCTCCCAAGTAGCTGGGACCACAGGCACCTGCCACCACCAGGCCCG GCTCATTATTTCATTTTTTGTGGAGACGGGGTTTTGCCATGTTGCCCAGG CTGGTCTTGAACTCCTGGCCTCGAGCAATCCTCCAGCCTCGGCTTCCCGG AGTGCTGGGATTACAGGTGTGAGCCACCATGTCTGGCCCAAGTTGGTATC ATTTTAAACCACTACGTTTCTGGGAATTCGTTACAGCAGCTGCAGGAAAG ATTTTGGGAAATGGAAAGCTGTTTCCAGGGCCTGGGGACAGGTGGGACCC CAGCTCAGGGTCCGTGTACTTGGGGACCATTTCCTGCTCTGCTGTGGTCT ACTGGACCGTCTGGCATCGCTGTGACCGCATGGGCCGTGCTCCATCAATA TTGTTTTTTTGTGTGTGGGTGTTTTTTTTTTTTTTTTTAGATGGAGTCTC GATCTGTCGCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAC CTCAGTGTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCCAGTAGC TGGGACTACAGGCGTCTGCCCCCACGCCCGGCCAATTTTTTGTATTTTTA GTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGAC CTCGTGATCCGCCCGCCTTGGCCTCCGAAAATGCTGGGATTACAGGCATG AGCCACTGCGCCCGGCCCTGTTTTTATCTTTTAGAGACAGGGTCTCCTTC TGTCGCCCAGGCTGGAGTGCAGTGGTTTGATCTCGGCTCACTGCATCCTC TGCCTCCTGAGTTCAAGCGATCCTACTGCCTTAGCCTCCCAAGTAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03209.hp2 HG01884.hp1 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0068 a0002c0003t0001g0069	2	442	0.0045	-2196	c.-34 others(11): Show c.-3430_-1235del	PRSS57	ENSG00000185198.12	transcript	ENST00000329267.9	protein_coding		1213		chr19	TogoVar
ZNF385D_chr3_21407218_21756210	21682212	GTTTAGCT others(2188): Show GTTTAGCTTTGTCCTTTTAAGTTAGAAGCCAGAAAGATTGGCTAAGTATG TTGAAAATCTAATAACTTATGAAAGATGTACACAACCTGGAAAATAGCCA AAGCAGAGAGACAGACATGATTAAAGGACAGGCAAGTAAGAGTAAGGGGA AAGCTAAAGGTACTGGCAATGTTTTTGTGAAGAGAAGAGACTCAGGGTGA CTTAATTGCCTTCAAATATTTAAAAACTAACATAGAAAGAATGGTGAACA GATGTTCTTCATTTCCACTTAAGACAGAAAAAGCCATCAGAGGACTGAAA GGATAGTTGCAGTCATGTCTGGAAGAAAGGACACATTTTCAGGTCCTTTA ATAGAAATGAAAGTCAAGGGTTAATCTTTTTTAGGGAAATGAGCCTCTAA ATCTCATATTGCAATTTTGTGGGATTCACATGGAAGCTGTACAAAATTAG AGCAAGTTAGAACTGGATGAAACCTTAGCAATCAAGTAATCTACTTCCTG AGCAGGAGAAGACAAACTTTTTTTTTTTTCCTTTGGGAAAGGGCCAGATA ATTAATATTTAAGCTTTGTGAGCTATCAGTTCTATAGTGCAACTGCTAAG TCTGCCATTGTAGTGTGAAAGCAGCCATAGACAGTATGTAAACAAATGGG CATACCTATGTACCAGTAAGATTTTACTTTCTAAGATAGTCATCAGCCAG ATTTGGTTCTCTGGCACCAGCTGTTGTTGGCTGACCCTGGTCCAGAGAGC ACTGGCCCTCAAACTTTAGTGAGCATCAGAAATGCCTAGAGGGCTTATTA AGACACAGACTTCTGATGTCTTCCTACCCCTACTTCAAGTTTTGATTTCT GAGTGGGAGCTGCTAATTTGCATTACTTACTAATTCCTAGGTAATGCTGA TGCTATTGGTACATGATCCACAAATTGAAAACACTGAGGCCAGAGAACAC AAATGATAAACCTAAAGTCCAGTTAAGGATGTGTGTCTCTAGGCATATTT AGCAGAATTCTATGACAACCCCCAAGATTTCCTGCTTCCTGCTGTACACA CCCTACATCATCTGTAGGACTATTAATTTTGTGGATATTACTTTTGTGAT TAGGTTATGCGACGTGATACAGTTGACTTCAAAAAGAAGAGATTCATTTG TAATCCCAGCACTTTGGGAGGCCGAGTTGGGTGGATCACGAGGTCAGGAG ATCAAGACCATCCTGGCTAACACTGTGAAACTCCGTCTCTACTAAAAATA CAAAAAATTAGCTGGTCACGGTGTTGTGCATCTGTAGTCCCAGCTACTCG AAGGCTGAGGGAAGAGAATTGCTTGAACCTGGGAGGCGAAGGTTGCAGTG AGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGAGAGAGTGAGACTCC ATCTCAAAAAAAAAAGAGATTGTTCATGTGGGTGTGAACTAAGCACATGA GCTGTTCAAAAGCGAAGAGCATTCTCCGGCTGGTTGCAGAAGCAACAGAA GGATTCAATGTGCCCTTACTGGCCTGAAGATCGAGGCCACATGTAAAGGA ATGCAGATGGTCTCTGGGAGCTAAGAGTAGCCCCAGGGTGACAGCAAGGA AAGCAAGACCTTCATTCTACAACCACAGGAACTAAATTCTGCTAACAAGA ATGAATTTGAGAAACAGATTTTTAACACAGAGTGTCCTGATGAGGACTCA GTCCAGCCAACATCTTCATTTCAGCCCTATGATACCCTGAACAGAGAACA TAGCCACATCTGTGCTGGACTTCTGACCTACAAAACTATAAGCTAATAAA TGTGTGATGTTTTAAGGCACCAAGTTTCTGGTAATTAATTACGCAGAAAT AGAACTCTGACACTGTGAGTGTGGTATATGTCCCACTTTAGACCTAAAGC TCCCTAGTTGAACTGGTTACATATCCACTGCCAAACATCACTGTCTCCTG TAACAACTTTCAAGCACGCTCTTTTTACTCCTGGCCCCTTTAGTTTATAA AGCGCCATGTTTAGGAGTTGTCTCTCTTTAACTGAGAATACTTTCCCACT GCTGACTCTCTTCTGGTTAGAAGCTCTGGGAAATGAAGGTAATAAATATC TCGTATGTTTGACAAACTTCACCACACTAAAGCCATAAATGGTTAACTGT TCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00438.hp2 others(11): Show HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00597.hp2 HG03017.hp2 HG03710.hp2 HG03942.hp1 NA18940.hp2 NA18957.hp1 NA18968.hp1 NA18971.hp1 NA18987.hp2 NA18994.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0021 a0001c0001t0106 a0001c0001t0108 a0001c0002t0001 a0001c0002t0007 a0001c0002t0009 a0001c0002t0014 a0001c0003t0002 a0001c0011t0017	a0001c0001t0002g0053 a0001c0001t0003g0145 a0001c0001t0004g0064 others(11): Show a0001c0001t0002g0053 a0001c0001t0003g0145 a0001c0001t0004g0064 a0001c0001t0004g0122 a0001c0001t0004g0152 a0001c0001t0021g0147 a0001c0001t0106g0241 a0001c0001t0108g0240 a0001c0002t0001g0121 a0001c0002t0007g0118 a0001c0002t0009g0119 a0001c0002t0014g0077 a0001c0003t0002g0085 a0001c0011t0017g0230	14	256	0.0547	-2195	c.23- others(17): Show c.23-19379_23-17185del	ZNF385D	ENSG00000151789.13	transcript	ENST00000281523.8	protein_coding	1/7			chr3	TogoVar
MYO9A_chr15_71817291_72123150	72093624	AGCCTGTA others(2186): Show AGCCTGTAATCCCAACATTTTGGGAGGCTGAGATGGGTGGATCACTTGAG GTTAGGAGTTCAAGACCAGCCTGGCCAACTTGGTGAAACCCCGTCTCTAC TAAAAATAGAAAAATTAGCTGGGCATGACAGCAGGCACCTCTAATCCCAG CTACTTGGGAGGCTAAGGCACAAGAACCACTTGAAGCCAGGAGGCGGAGG TTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGCAACAGAGT GAGACTCCATCTCAAAAAAATTAAATAAAAAAAACCACACAAATAAAAAA TAAAATAAAATCATTGAAAAGTAGTGAACTTAAAACATACATCTGAAGAA ATCACCCACAGTAAAAGAAGAAAAATACACACCCAAAAAAAGAAGAAAAA CACAAAAATACAAAAAAAGGTTAAAAAAACATATAAGAAAGCCAGACACG GTGGCTCGTAGCTATAATCCCAGGAACTTGAGAGGCTGAGGTGGGAGGAT CACTTCAGCCCAGGAGTTCAAGGCTGCAGTGAGCTATGATCACACCACTG CACTCCAGCTGGGAAACAGAGCAAGAACTTGTCAAAAGAAGAAAGAAGAA AGAGGAAGGAGGAAGAAGAAAGAAGGAAGAGGAGGAGGAGGAGGAGGAAT AAAAGAAAAAATACATAAGAGTAAGAAAATCTAACATATATAGACATACC TCATTTTATCGCACTTTGCTTTATTGCACTTCACAGATAGTGATTTTTTA ACAAATTAAAGGTTTGTGGCAACCCTGTGTCAAGTAAGTCAACAGGTGCC ATCTTCTAACAGCATGTGCTCACTTCGTGTCTCTGTGTCAAATTTTGGTA ATTCTTGCAGTATTTCAAGCTTTTTTAAACTTTTTTATGTATTTATTTAT TTTTAGAGACAGGATCTCGCTCTGTCACCCAGGTTGCAGTGCAGCAGCAT GACCATCATAGCTCACTGCAGCCTCATATTCCTGTGCTCCAGCAATCCTC CTGCCTCAGCCTCCCAAGTAGCTAGCACTACAAGTGCATGCCACCCTGCC CAGCTTATTTTTTAAGTTTTTGTACAGATGAGGTCTTGTTATGTTGCTGA GTCTAGTCTCAAACTCCTGGCCTTAAAGCAAACCTCTCACCTCAGCCTTC TAAAGCACCTGTATTACAGGTGTAAGCCGCCACACCTAGCTTCAAACTTT TTTATTATTATATCTGTTATGGTGATCTGTGATCAGTGATCTTTGATGTT ACTGTAATTGTTCTGAGGCACCAAAAATCATGACCATATAAGACAGTGAA CTTAATCAATCAATGTTATGTGTGTTCTGACTGCTCCATCGACCAGCTGT TCCCTGACTCTTTCTTCTCGTTGGGCCTCACTATTGCCTGAAACACACAA TATTGAAATTAGGCCAATTAATAACCCTACAATGGCCTCTCAGTATTCAA ATGAAAGGAAGAGTCAAATGTCTCTCACTTTAAATCAAAACCTAGAATGA TTAGGCTTAGTGAGAAAGGCATGCTGAAAACCTAGACAGGCCAAAAGCTA GACCTCTTGTGCAAAACAGTTTGCCAAGTTGTGAATGCAAAGGAAAACTT GAAGGAAATTAAAAGTGCTACTCCAGCGAACACACAAATAAGATAGCAAA ACCACCTTACTACTGATATGGAGAAAGTTTTAGTGGTCTGGAAAGAAGAT CAAATTAGCCACAACATTCCCTTATGCCAAAGCCTAATCTGGAGCAAGTC TCTACCTCTCTTCACTTCTATGAAGGCTGAGAGAGGTGAGAAAGTTATAG AAGAAAAGTTGGACACTAGCAGTGTTGATGCATGAGATTTAAGGAAAGAA GCCGCCTCCACAACATAAAAGTGCAAGGTAAAGCAGCAAGTGGTGGCATA GTAGCTGGAGCAAGTTATCCAGAAGATCCAGCTAAGATAATTGATGAAGG TGGCTACACTAAACAACAGATTTTTAATGTGACAAAACGGCCTTGTGTTG GAAAAATATGTCATCTAGGACTTTCATAATTAGAAGTGAATGCCTGGCTT CAAAGCCTCAAAGAACAGGCTGCCTCTCCTGCTAGGGGCTAAGGCAGCTA ATGACTAAGCTGAAACCAATGCTCATTGACCATTCTGAAAATCCTAGGGC TCTTGAGAATTAACGCTAAATCAAGGCCAGATGTGGTGGCTCAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00597.hp2 others(84): Show HG00140.hp2 HG00423.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG01070.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01257.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18961.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18983.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp2 NA19007.hp1 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19070.hp2 NA19072.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19083.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0011 a0019 others(5): Show a0001 a0011 a0019 a0020 a0021 a0022 a0027 a0028	a0001c0001 a0011c0015 a0019c0023 others(5): Show a0001c0001 a0011c0015 a0019c0023 a0020c0027 a0021c0026 a0022c0025 a0027c0032 a0028c0034	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0037 a0011c0015t0001 a0019c0023t0001 a0020c0027t0001 a0021c0026t0001 a0022c0025t0032 a0027c0032t0033 a0028c0034t0001	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0114 others(84): Show a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0005g0203 a0001c0001t0009g0158 a0001c0001t0009g0165 a0001c0001t0009g0166 a0001c0001t0009g0197 a0001c0001t0009g0198 a0001c0001t0012g0186 a0001c0001t0012g0187 a0001c0001t0012g0188 a0001c0001t0012g0189 a0001c0001t0028g0181 a0001c0001t0029g0109 a0001c0001t0030g0182 a0001c0001t0031g0111 a0001c0001t0037g0117 a0011c0015t0001g0104 a0011c0015t0001g0105 a0019c0023t0001g0204 a0020c0027t0001g0139 a0021c0026t0001g0174 a0022c0025t0032g0176 a0027c0032t0033g0196 a0028c0034t0001g0124	87	308	0.2825	-2193	c.-72 others(19): Show c.-72+21863_-72+24055del	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	1/41			chr15	TogoVar
ZNF385D_chr3_21407218_21756210	21682212	GTTTAGCT others(2186): Show GTTTAGCTTTGTCCTTTTAAGTTAGAAGCCAGAAAGATTGGCTAAGTATG TTGAAAATCTAATAACTTATGAAAGATGTACACAACCTGGAAAATAGCCA AAGCAGAGAGACAGACATGATTAAAGGACAGGCAAGTAAGAGTAAGGGGA AAGCTAAAGGTACTGGCAATGTTTTTGTGAAGAGAAGAGACTCAGGGTGA CTTAATTGCCTTCAAATATTTAAAAACTAACATAGAAAGAATGGTGAACA GATGTTCTTCATTTCCACTTAAGACAGAAAAAGCCATCAGAGGACTGAAA GGATAGTTGCAGTCATGTCTGGAAGAAAGGACACATTTTCAGGTCCTTTA ATAGAAATGAAAGTCAAGGGTTAATCTTTTTTAGGGAAATGAGCCTCTAA ATCTCATATTGCAATTTTGTGGGATTCACATGGAAGCTGTACAAAATTAG AGCAAGTTAGAACTGGATGAAACCTTAGCAATCAAGTAATCTACTTCCTG AGCAGGAGAAGACAAACTTTTTTTTTTTTCCTTTGGGAAAGGGCCAGATA ATTAATATTTAAGCTTTGTGAGCTATCAGTTCTATAGTGCAACTGCTAAG TCTGCCATTGTAGTGTGAAAGCAGCCATAGACAGTATGTAAACAAATGGG CATACCTATGTACCAGTAAGATTTTACTTTCTAAGATAGTCATCAGCCAG ATTTGGTTCTCTGGCACCAGCTGTTGTTGGCTGACCCTGGTCCAGAGAGC ACTGGCCCTCAAACTTTAGTGAGCATCAGAAATGCCTAGAGGGCTTATTA AGACACAGACTTCTGATGTCTTCCTACCCCTACTTCAAGTTTTGATTTCT GAGTGGGAGCTGCTAATTTGCATTACTTACTAATTCCTAGGTAATGCTGA TGCTATTGGTACATGATCCACAAATTGAAAACACTGAGGCCAGAGAACAC AAATGATAAACCTAAAGTCCAGTTAAGGATGTGTGTCTCTAGGCATATTT AGCAGAATTCTATGACAACCCCCAAGATTTCCTGCTTCCTGCTGTACACA CCCTACATCATCTGTAGGACTATTAATTTTGTGGATATTACTTTTGTGAT TAGGTTATGCGACGTGATACAGTTGACTTCAAAAAGAAGAGATTCATTTG TAATCCCAGCACTTTGGGAGGCCGAGTTGGGTGGATCACGAGGTCAGGAG ATCAAGACCATCCTGGCTAACACTGTGAAACTCCGTCTCTACTAAAAATA CAAAAAATTAGCTGGTCACGGTGTTGTGCATCTGTAGTCCCAGCTACTCG AAGGCTGAGGGAAGAGAATTGCTTGAACCTGGGAGGCGAAGGTTGCAGTG AGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGAGAGAGTGAGACTCC ATCTCAAAAAAAAAAGAGATTGTTCATGTGGGTGTGAACTAAGCACATGA GCTGTTCAAAAGCGAAGAGCATTCTCCGGCTGGTTGCAGAAGCAACAGAA GGATTCAATGTGCCCTTACTGGCCTGAAGATCGAGGCCACATGTAAAGGA ATGCAGATGGTCTCTGGGAGCTAAGAGTAGCCCCAGGGTGACAGCAAGGA AAGCAAGACCTTCATTCTACAACCACAGGAACTAAATTCTGCTAACAAGA ATGAATTTGAGAAACAGATTTTTAACACAGAGTGTCCTGATGAGGACTCA GTCCAGCCAACATCTTCATTTCAGCCCTATGATACCCTGAACAGAGAACA TAGCCACATCTGTGCTGGACTTCTGACCTACAAAACTATAAGCTAATAAA TGTGTGATGTTTTAAGGCACCAAGTTTCTGGTAATTAATTACGCAGAAAT AGAACTCTGACACTGTGAGTGTGGTATATGTCCCACTTTAGACCTAAAGC TCCCTAGTTGAACTGGTTACATATCCACTGCCAAACATCACTGTCTCCTG TAACAACTTTCAAGCACGCTCTTTTTACTCCTGGCCCCTTTAGTTTATAA AGCGCCATGTTTAGGAGTTGTCTCTCTTTAACTGAGAATACTTTCCCACT GCTGACTCTCTTCTGGTTAGAAGCTCTGGGAAATGAAGGTAATAAATATC TCGTATGTTTGACAAACTTCACCACACTAAAGCCATAAATGGTTAACTGT TCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02630.hp2 HG02896.hp2 others(2): Show HG01934.hp1 HG02630.hp2 HG02896.hp2 HG03130.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0013 a0001c0001t0036 a0001c0002t0026 others(2): Show a0001c0001t0013 a0001c0001t0036 a0001c0002t0026 a0001c0003t0003 a0001c0003t0052	a0001c0001t0013g0216 a0001c0001t0036g0016 a0001c0002t0026g0141 others(2): Show a0001c0001t0013g0216 a0001c0001t0036g0016 a0001c0002t0026g0141 a0001c0003t0003g0098 a0001c0003t0052g0221	5	256	0.0195	-2193	c.23- others(17): Show c.23-19377_23-17185del	ZNF385D	ENSG00000151789.13	transcript	ENST00000281523.8	protein_coding	1/7			chr3	TogoVar
STARD6_chr18_54319492_54362858	54342407	TAAGAAAA others(2185): Show TAAGAAAATGCTCTCCGTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCCCTCTCCGTCTCCGTCTCCGTCTCCCTCTCCCCACGGTC TCCCTCTCATGCGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGGCTC ACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCGAGTGCCTGC GATTGCAGGCACGCGCCGCCACGCCTGACTGGTTTTGGTGGAGACGGGGT TTCGCTGTGTTGGCCGGACCGGTCTCCAGCCCCTAACCGCGAGTGATCCG CCAACCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCTCGTTCAC TCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTC ACTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGA GATTGCAGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGAGGAGTGTC TCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCCGGCC GCCCAGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTA GGAAGTGAGGAGCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGAGG AGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGC CCCACCGCCCCATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGACCC CGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTG AGGAGACCCTCTGCCTGGCAACCACCCCGTCTGAGAAGTGAGGAGCCCCT CCGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCAGCA GCCACCCCATCTGGGAAGTGAGGAGCATCTCCGCCCGGCAGCCACCCCGT CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGTGCCATCC GGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCGGTCTG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCC GGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGCGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGCGAGGGAGGTGGGGGGGGT CAGCCCCCCTGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCA CCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGA CAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTG AGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGA CTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTG TTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGT GTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTA AACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTA ATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCT GCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCC CTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACC CAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01069.hp1 others(20): Show HG00323.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01167.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG02698.hp2 HG02738.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG03209.hp2 HG03471.hp2 HG03490.hp1 HG03579.hp2 HG04115.hp1 HG04204.hp2 NA18945.hp2 NA19030.hp1 NA19087.hp2 NA20752.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0004 a0002c0003t0002 a0002c0003t0004	a0002c0003t0002g0013 a0002c0003t0002g0036 a0002c0003t0002g0037 others(16): Show a0002c0003t0002g0013 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0003t0002g0265 a0002c0003t0002g0266 a0002c0003t0002g0267 a0002c0003t0002g0268 a0002c0003t0002g0271 a0002c0003t0002g0272 a0002c0003t0002g0273 a0002c0003t0002g0274 a0002c0003t0002g0275 a0002c0003t0002g0276 a0002c0003t0002g0277 a0002c0003t0002g0278 a0002c0003t0002g0279 a0002c0003t0002g0280 a0002c0003t0004g0269 a0002c0003t0004g0270	23	350	0.0657	-2192	c.141 others(17): Show c.141-7348_141-5157del	STARD6	ENSG00000174448.9	transcript	ENST00000307844.4	protein_coding	4/7			chr18	TogoVar
TAOK1_chr17_29385363_29556903	29455163	AGCCTCCC others(2185): Show AGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCTGGTCAT TCCTACGTATTTTATTCTTTTAGATGCTAGTGTAAGTGGAATTACTTTCT TAATTCCGTGTGAAATTGTTCATTGCTGATGTATAGAAACATAGCTGTTT TTTGTATCTTCATCTTGTACCCTACAACTCTGCTGAGTTTGTATGTTCTA GTATCTTTCTGTTGGATTCTTTGAAATTTCTACGTACAGTATTATATCAT TTGCAAATGGAGATGGTTTTACTTCTTTCTTTTCAACTTGAATGGCTTTC GTTTTTCCTGTCTTGATACCCTGGGCTAGAACTTCCAGTACAGTGTTGAA CAGCCGTGGTGAAAGTGAGCATGTTGTCTTGTTCCTGATAGTAGTGAGAA AGCCTTTTCAGCCTTTTACTATTGAGTATGGTGTTAGCACTGGGTTTTTA ATAAATACCCTTTATCATGTTGAAGAAGTTCCCTTTATTCCTGTTTTTTT GAGTGTTTTTATCATGAAAGTATTGGATTCTGTCAAATGCCTTTTCTGCA TCAAGCTGGATCATGTGTTTTTTTTTTCCTTCATTTTATTAATGTGGTAT ATCAAATTGATTGATTTTGTTAGTTTAAATCACCCTTACATGTCTGTGAT AAATCAAACTTCATCACGGTTTGTAATTCTTTTAATATGCTCTAGGTTTC TGTTTGCTAGTATGGTGTTGGGAATTTTTCATTCCACATTTGTAAGAGAT GCTGGTCTGTAGTTTTCTTGTGATGTCTTTATCTAGTGTTGGCATCAGGG TAATACTGGCTTCATAGGGTGAGTTAGGAAGTGTTCCCTTCTTTTCTATT TTTTGATAGAGTTTGTGAAGGATTGGTATTAGTCTTCTTTAAATGTTTGG TAGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGC CAAGGCAGGCAGATCACCTGAGGTCAGGGGTTCGAGACCAGCCTGGACAA CATGTCAAAACCCCGTCTCTACTAAAAATACAAAAATAAGTTGAGTGTGG TGGTGCATGCCTGTAGTCCCAGCTACTCGGGGAACTGAGGCATGAGAATC GCTTGAACCCGTCCATGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCA CTGCACTCCAGCCTGGGGGATAGAGCGAGACTCTGTCTCCGGGAAAAAAA AAATGTTTGGTAGAATTTCCTAGGGAAGCCATTTGGTTCTGAAGTTTTCT TTCTTGGGAGGTTTTTGATTACAGATTCAATCTCTTTACTTATGATAGGT CTGTTGAGATTTTCGATTTTCTTGAGTTAGTTTAGTTTGTAAGTTTCTAG GAATTTGTCTATTACAGGTTGAGCATCCCAAATCTGAAAATCCAATGCTT GTTGGAGCATTTCAGATTTTGGATTTTCAGACTGGGGATACCCAGCCAGT AAGTGTAATGCAAATATTCCAAAATGTGAAAAAATTTGAAATCTGAAACA CTTCTGGTCCCAAGCATTTTGCACAAGGTATACTCAACCTATAATGTTCT CATATAGTTCTATTTCTTTTTTTGTTTTGTTTTGTTTTTAAAACGGAGTC TCGCTCTGTCGCCTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGC AAGTTCTGCCTCCCGGGTTCACTCCATTCTCCTGCGTCAGCCCCCCAAGT AGCTGGGACTACAGGCGCCTGTCACCACGCCTGGCTAATTTTCTGTATTT TTAATAGAGACGGGGTTCCACTGTGTTAGCCAGGATGGTCTCGATCTCCT GGTCTTGTGATCCGCCTTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACAGCATCTGGCCATATAGTTCTATTTCTGTAACGTTCTCCCA TTCTTTTCTTCTCTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTG AGACAGAGTCTCACTCTGTCTCTGTCTCCCAGGCTGCAGTGCGGTGGCAT GATCCTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCACCCCTCCCA CCTCAGCCTTCCAAGTAGATGGGAATATACAGGTGCATGCCACCATACCT GGCTAATTTTTGTATTTTTTGGTTGAGATGGGGTTTCACCATGTTGGCCA GGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG01934.hp2 others(10): Show HG01884.hp2 HG01891.hp2 HG01934.hp2 HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02615.hp2 HG02922.hp2 HG02976.hp1 HG03195.hp1 HG03209.hp1 HG03516.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0015 a0001c0001t0019 a0001c0001t0024 others(5): Show a0001c0001t0015 a0001c0001t0019 a0001c0001t0024 a0001c0001t0026 a0001c0001t0032 a0001c0001t0037 a0001c0001t0054 a0003c0008t0015	a0001c0001t0015g0080 a0001c0001t0015g0082 a0001c0001t0015g0083 others(10): Show a0001c0001t0015g0080 a0001c0001t0015g0082 a0001c0001t0015g0083 a0001c0001t0019g0076 a0001c0001t0019g0077 a0001c0001t0024g0078 a0001c0001t0024g0079 a0001c0001t0026g0081 a0001c0001t0026g0084 a0001c0001t0032g0074 a0001c0001t0037g0248 a0001c0001t0054g0075 a0003c0008t0015g0247	13	326	0.0399	-2192	c.132 others(17): Show c.132+3492_132+5683del	TAOK1	ENSG00000160551.12	transcript	ENST00000261716.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
AKAP13_chr15_85375603_85754355	85513776	CTTTTCCG others(2184): Show CTTTTCCGATTTTGAAGAATACAGTGCCCTCTCCTCTTGCTTAATAGACT GTTTCTCATTGTCCGACGTTTCCTTGTGATTAGGTTGAGGGCTTGCATGC TTGGTCAGAGCACTGCATAGGTAACCTTGTGTCTTTCTCAGTGTGTGACT CTGGAGACACATCTGTCATCTGTCTTTATTGAGATCTTTATTTTGATTAA CCTGTTCAGTGTATTGGCAGATTTCGCTGAATGAATTCTCCTTTTTTTTT CTTTCTTATAACTAATAAGCAGTCTTTGGGGAGACACTTAAAGACTGTGT AATATGTATGCTGTTCCTCATCAGAATCTCCCTCTGGATTGAGCATTCAT TGATAACTTTTTGCCAGAGTGAATCTTTACCATATGTTTGCGCAGTGATA ATTTTACTATTCCAGCAATCTCCCCTCTTTAAGCAGTCAGCCCGTCATTC TGTGATACTCATAGGAACTCCCTTCTCTGCTGTATAATTTATCTACTGTT ATTAATATGGACTCATGACTTCCTATTTGTTAAAAAAATTGTTTATAATT TATTGCTGTTCTTGATTGTGTAGTCTTTAAATTGTCCCAGGTTTGTACAG AGGAAGCCACTTGAGTCTGGCTTCTGTGTCCTTAAGACATGGCCCCATCG TTTTTTTGAGCACTTCATTGTTTTCTGTCAAAACAAGATATTACAGTCTC ATCTTATAGATACTCTGACCCAGGCCTGGAATCAGCCAAGTCTCTGAAGG GACTCGGTTCTTTTTATTGGAGAATGGTATTAGTGACCAATGCCTGTACA CTAGATAATATTCATTGCTACTGAGTGTTCCTCTGTTGTGTAAGCCTTTA ATGAAATTGAACACTGGCTGCCATGAGTTGCCAAGTTAAAATGCCATGAC TTTGCCTTTTAGCCTATGGAAAAGTTGTAGCTACCTGTCAGTGTTTGGTT GTTTTAGCAGAGTAACTGGGCAAAGTGTTATCAATTGCCTATCAATTGTA TGTTTAAAGGAGAGAACGAAGATAGTTATGTGAATACAAGCAGTGTTGGT TAATGAGATTTTGAGGGGTTTTTTTTTTTTGGTACTGTAATAATTGCCAC CTCATGGAAAGGTAATACCCTGTAATAACACTCAGTTTTTATTTAGTTTA CTTAACTCTCTTGTTTCACTTTTCCCAAATTTGCAGTGGGTATAAATCCT GTCATTTTGTCAGACTGGGAAATAAATTTGGGAAGGCCTGTGAAACTTTT AAGATTCTGGATTGAAAGGTAGTTTTTGTTATAATTTCACAATTCTTGGA GCCTACAAGAATGTCTTTACATAAAATATGTGACTGCAAGATATAAAAAA TAAACTCAGGAATCTAAATTTTATACCTTTTAACTTCAAATATTTGATTA TAAATTATTTGAGCAGATATTTCTTGGAAACTATTCTGAAATAATTTCAA GTTTATAGAAAAGCTGTAAGGATAGAACAGATATTACATCTTATAAACTT TATGCCCCTATTTTCCAACTGTTGACATTTTGCCATATTTGCTTAATCAT TCTGTCTCTTATCATTTCTTTCCTGAACCATTGGAGAGTAAATTGTAGGT CTCACGTCCCTTTACTCCAAACGCTTTGTTGTGTGGTTTCTGAGAACAAA GGTGTTCTTTCATAACCACGGCACAATACCAAAACCAGGAATTTTAACAT TGGTTCCATGTTAATCTGTAAACCTCATTCAGATTTTGCAAGTTGTCCCG ATAATATCCTTAATAGCAGCTTGTTTTTATTAAGTATTCACTCCAAAATC ATGTGTTGTGTTTAGTTGGCAAATCTTTTTAGTCTTCTTTACTCTGGAAC AGGACCTCAATCTTTGTCTTTTGTTAATGACATTTTCTGAAGAGTTACAG ACCATTTTTTTACATAGATGCCCCTTCAATTCAAGTTTGTCTGATGTTTT CTCATGACTAGATTGAAGTTATGCATTTTTGTTAGGAACACTGTAAGTGA TGCTGTGTCCTTAGTGCATGCTATGTGAAATGTGATGTTAGCTTATTTCT CTATGGTTATTTTTCCTTTTTTTTTTAAATCATTTGATTCAGGTGTTATC TGCCAAAGTTCTGCTTTCCCCTTTGTTATTTATAAGCCTTAAGTGAGCAT TTCTCCAACATCTTTGTTGTGTTTTTAACAACTTCTTTAACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG01070.hp1 others(68): Show HG00099.hp1 HG00544.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01168.hp2 HG01192.hp2 HG01255.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02257.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02818.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03130.hp1 HG03579.hp1 HG03704.hp2 HG03831.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp1 NA18948.hp2 NA18957.hp1 NA18962.hp1 NA18963.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18980.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19067.hp2 NA19074.hp1 NA19077.hp1 NA19084.hp1 NA19090.hp1 NA19091.hp2 NA20300.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0011 a0012 a0013 a0014 a0017 a0021 a0025 a0027 a0029 a0033 a0037	a0001c0002 a0001c0004 a0001c0007 others(24): Show a0001c0002 a0001c0004 a0001c0007 a0001c0012 a0001c0027 a0001c0051 a0001c0056 a0001c0059 a0002c0001 a0003c0003 a0004c0006 a0004c0013 a0005c0005 a0006c0033 a0008c0009 a0011c0018 a0011c0053 a0012c0015 a0013c0025 a0014c0026 a0017c0022 a0021c0068 a0025c0031 a0027c0058 a0029c0047 a0033c0037 a0037c0032	a0001c0002t0001 a0001c0002t0006 a0001c0002t0008 others(37): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0038 a0001c0002t0082 a0001c0004t0001 a0001c0004t0022 a0001c0007t0001 a0001c0007t0016 a0001c0012t0001 a0001c0027t0001 a0001c0051t0006 a0001c0056t0001 a0001c0059t0008 a0002c0001t0007 a0002c0001t0011 a0002c0001t0015 a0003c0003t0003 a0004c0006t0010 a0004c0013t0003 a0004c0013t0039 a0005c0005t0004 a0006c0033t0005 a0008c0009t0009 a0011c0018t0012 a0011c0053t0012 a0012c0015t0017 a0013c0025t0005 a0014c0026t0026 a0017c0022t0028 a0021c0068t0081 a0025c0031t0001 a0027c0058t0006 a0029c0047t0006 a0033c0037t0010 a0037c0032t0063	a0001c0002t0001g0005 a0001c0002t0006g0008 a0001c0002t0006g0009 others(68): Show a0001c0002t0001g0005 a0001c0002t0006g0008 a0001c0002t0006g0009 a0001c0002t0006g0013 a0001c0002t0006g0256 a0001c0002t0006g0257 a0001c0002t0006g0259 a0001c0002t0006g0276 a0001c0002t0006g0278 a0001c0002t0006g0283 a0001c0002t0008g0079 a0001c0002t0008g0244 a0001c0002t0009g0157 a0001c0002t0010g0072 a0001c0002t0012g0006 a0001c0002t0012g0007 a0001c0002t0012g0096 a0001c0002t0013g0196 a0001c0002t0013g0243 a0001c0002t0038g0004 a0001c0002t0082g0084 a0001c0004t0001g0003 a0001c0004t0001g0080 a0001c0004t0022g0295 a0001c0004t0022g0296 a0001c0004t0022g0297 a0001c0007t0001g0073 a0001c0007t0001g0076 a0001c0007t0001g0081 a0001c0007t0001g0083 a0001c0007t0001g0087 a0001c0007t0001g0088 a0001c0007t0001g0140 a0001c0007t0001g0274 a0001c0007t0016g0082 a0001c0012t0001g0292 a0001c0027t0001g0106 a0001c0027t0001g0107 a0001c0051t0006g0086 a0001c0056t0001g0085 a0001c0059t0008g0098 a0002c0001t0007g0258 a0002c0001t0011g0103 a0002c0001t0011g0198 a0002c0001t0015g0109 a0003c0003t0003g0204 a0004c0006t0010g0246 a0004c0013t0003g0105 a0004c0013t0039g0130 a0005c0005t0004g0158 a0006c0033t0005g0229 a0008c0009t0009g0075 a0008c0009t0009g0197 a0011c0018t0012g0001 a0011c0018t0012g0002 a0011c0018t0012g0095 a0011c0053t0012g0090 a0012c0015t0017g0195 a0012c0015t0017g0203 a0012c0015t0017g0242 a0013c0025t0005g0089 a0014c0026t0026g0108 a0014c0026t0026g0228 a0017c0022t0028g0201 a0017c0022t0028g0202 a0021c0068t0081g0205 a0025c0031t0001g0200 a0027c0058t0006g0010 a0029c0047t0006g0275 a0033c0037t0010g0104 a0037c0032t0063g0213	71	314	0.2261	-2191	c.34- others(15): Show c.34-7647_34-5457del	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
CFAP46_chr10_132803392_132947570	132821920	GTGTGTGC others(2183): Show GTGTGTGCGCTGATGTGTGCTGTGTGTGCGCTTGTGTGTGCTGTGTGTGC GCTGATGTGTGCTGTGTGTGCGCTTGTGTGTGCTGTGTGTGCTGATGTGT GCTGTGTGAGTGCTGATGTGTGCTGATGTGTGCTGTGTGTGCTGATGTGT GCTGTGTGTGCAGTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTG TGCACTTGTGTGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGCTGTGTGT GCTGATGTGTGCTGATGTGTGCACTGTGTGCTGTGTGTGTGCTGATGTGT GCTGTGTGCGGTGATGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGTG TGCTGTGTGAGTGCTGGTGTGCTGATGTGTGCACTGTGTGCTGTGTGTGT GGTGATGTGTGCTGTGTGTGTGGTGATGTGTGCTGTGTGTGCAGTGATGT GTGCTGTGTGTGTGCTGATGTGTGCTGATGTGTGCACTGTATGCTGTGTG TGTGGTGATGTGTGCTGTGTGTGCAGTGATGTGTGCTGTGTGAGTGCTGA TGTGTGCTGTGTGTGCTGTGTGTGCTGATGTGTGCTGTGTGCTGATGTGT GCTGACGTGTGCTGTGTGCTGACGTGTGCTGTGTGTGCGCTGATGTGTGC TGTGTGTGTGCTGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTTGTG TGAGTGCTGATGTGTGCTGTCTGTGCGCTGATGTGTGCTGTGTGTGCGCT TGTGTGTGCTGTGTGTGCTGATGTGTGCTGTGTGAGTGCTGATGTGTGCT GATGTGTGCTGTGTGTGCAGTGATGTGTGCTGTGTGAGTGCTGATGTGTG CTGTGTGTGCACTTGTGTGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGC TGTGTGTGCTGATGTGTGCTGATGTGTGCACTGTGTGCTGTGTGCGGTGA TGTGTGCTGTGTGTGCGCTGATGTGTGCTGATGTGTGCTGTGTGAGTGCT GATGTGTGCTGATGTGTGCACTGTGTGCTGTGTGTGTGGTGATGTGTGCT GTGTGTGCAGTGATGTGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGTGC TGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGCTGTGAGTGCTGATGT GTGCTGTGTGTGCTGATGTGTGCTTTGTATGTGCTGATGTGTGCTGTGTG TGTGCTGATGTGTGCTCTGTGTGCTGATGTGTGCTGTGTGAGTGATGTGT GCTGTCTGTGCGCTGTGTGCTGATGTGTGCTGTGTGTGTGCTGATGTGTG CTGTGTGTGTGCTGTGTGCTGTGTGAGCGCTGATGTGTGCTGTGTGAGTG CTGATGTGTGCTGTGTGTGCTGTGTGTTGTGTGTGCTGTGTGAGTGCTGA TGTGTGCGGTGTGCTGATGTGTGCTGTGTGTGCTGAGTGCTGATGTGTGC TGTGTGCTGTGTGTGCACTGATGTGTGCTGTGTGTGTGCTGTGTGCTGTG TGAGTGCTGATGTGTGCTGTGTGTGCTGATGTGTGTTGTGTGTGCTGTGT GAGTGCTGATGTGTGCTGTGTGCTGATGTGTGCTGTGTGCTGATGTGTGC TGTGTGTGCTGTGTGCGCTGTGTGCTGTGTGCTGATGTGTGCTGATGTGT GCTGTGTGCTGACGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGTGTG CTGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTGCTGTGTGCGCTGA TGTGTGCTGTGTGCTGATGTGTGCTGATGTGTGCTGTGTGCTGACGTGTG CTGTGTGCTGATGTGTGCTGTGTGCGCTGATGTGTGCTGTGTGTGTGCTG TGTGCTGTGTGTGCACTGATGTGTGCTGTGTGTGTGCTGTGTGCTGTGTG AGTGCTGATGTGTGCTGTATGTTGTGTGAGTGCTGATGTGTGCTGTCTGT GCGCTGATGTGCGCTGTCTGTGCGCTGTGTGCTGTGTGAGCGCTGATGTG TGTGTGTGCTGATGTGTGCTGTGTGTGCAGTGATGTGTGCTGTGTGAGTG CTAATGTGTGCTGTGTGTGCTGCTTGTTTGTGCTGTGTGTGTGCTGTGTG CTGTGTGAGTGCTGATGTGTGCTGATGTGTGCTGTGTGTGCTGATGTGTG CTGATGTGTGCACTGTGTGCTGTGTGTGCGGTGATGTGTGC	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0096 a0001c0096	a0001c0096t0002 a0001c0096t0002	a0001c0096t0002g0035 a0001c0096t0002g0035	1	246	0.0041	-2190	c.711 others(19): Show c.7118-9196_7118-7007del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
MMP16_chr8_88027011_88332483	88085885	GAGTTTAG others(2183): Show GAGTTTAGTGATGTAGCAGATATGGACCCCCTTTTTATTAATTAGTATTC ATTTTAAATTCTAACTTAGAGAATACTAACTTTAAAACTTAAAAATGCAT ACTCATTCATGAAGACAATAATATATTAATTTTTATCCAATTTCTATACA TAAACAATAAATCATAAAAAAGTGTTGCTACACCAAAAATGTAGTTCAGC TCTAGCATAGAAAGAGCGAGCTGGGGAGTAAGTGAAAGATGGGTGTGTGC TGACACTCTTTTCTTTTTAGGTATTTATATCTTTTTCCTGTTTCTTCTTT AATCTACTCTTGTTCAGAAATCACTGGGGGATGGGTATGATGAAGAAAAG AACAATCACTAAAAAGTTTACCATCGATGTACTGCAGTTAGGGAAAGTAG TCACAAATTCCAGATAAGAATGCACCACACATTACTGCTGTATGATATTC TGATTTTTGTTCTCCTCCTTTGAGATCTGAAGATCGTATTAGCAAGGTGC TCTATTAAGTGTTGAAACATGTAAAAGGTTTTCTTCCTTCCATTGTACTA ACAGTTCTGGATTCAAAAATATGAACTCTTTGAGAATGTATATTCAATCT ACGGAGGAGGAGAGGCAGACAGCTAATTTCAAAATGCTGTGTAAAATGCT ATTCTTGCTGTCTCTATAAAATGGGAACTACCCTTTAGTGAATATTATGA GCTGGGAAAACAGTGTATTATTAGCACACCTATCAAGAATTACCATCCTT TTATTTTCAAACTAAAGAAAGATGTCTTACATACAATAAAATCCAGGTTC TTGTTGAGTATAGGGCCATTTCTACCCAAGGTACATAGACAATGTATTCA ATTTAGTTTTTTCACCACCCAAGCTAAAGTTGTCTCTTCAATCTCTTTCT ATCAAAGCATCATGTTATATTTTCTTCACAATATCCATTGTTCTCTGAAA TTACCTTGTTTATTTGTTCACTTGCTTTCCATCAGAGTATGTGCCTCATC TGTCTTATTAAAAGACTGTACCCCTTAACCCTGGAACAGTTCCCAGCACA ATTTGTTGAATGAATGTTCAAAGATAGGGAGAGAAAAACAGAGACAGAGA GAGATCAGCAAATCTTTTGCTTGGCCAGGAATTTAGGAAAACTTGGTCAA TATTCTGTTTAGGTGTCTTCACAGAAATTCTTAGGTGTCCTCCCAGAACT CCCAGAAACTCTTTCTTAGGCTCTCTTTCCTGCTCCTATAGTCCTAAACT GGCCTATAGTCCTAAATTAGCAAGCCTACTTAGATTATAAATCACTTAAA TTATAATTTACATCCAATGGTCTAAGTAGGCTGGCCAATGTGCCAGTCAT ATGTATACTCTTTCCCATAAGCATCATCATCATACTTTGCTTTCTCTCTC TTTCTTTAAGGTACAATCTAGGCTTCACCTCCTCTGGGGATACTTACTTT AAACTATGCCTCCTATTCCCCCAAAGACTTCTTGCTTTTTAGCCGACTGT CCTGCTTATTCTCACAGCATACCTTAGTTCTCGTAATAGTGGCCAGTGTG CCATGGCATAGGCATGCTGAGTAGGGTGGGAAAAGGAGATGTTTCATGAT ATGACATAGGAAGAGGGAAAGGGTTGAGCTAGAGCTAGGGAGTATATTTT CAGCTTGGTCTTCAATCAGACATGTTCTTTCTCACCAGAATTCACCATAC CACACGAGAGGAATTTCACTAGCCTGAAAGAACACAGAAAGTGGAGCAGG CCGTCAGCATTAGGAATATGATATTGAGGCCCAGTGCAGTGGCTCACTCC TGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGAGAATCACTTGAGCCCA GGAGTTCAAGACCAGCTGGGACAACATAGTGAGATCCTGTCTCTACAAAA AACAAAAAAATAGCTGGGCATGGTGGTTGCATGCCTGAGGTCCCAGCTAC TTGGAAGGCTGTGATGGGAGAATTGCTTAAACCTGGCAGGTTGAGGCTGC AGTGAGCCGTGATTGTGGTACTGCGCTACAGCCTAGGGTAACAGAGTGAG GTCCTGTCTCCAAAAAAACCAAACAAACAAAAAAATGTACATACATATAT ATCTATATCTATCTCTATATAAAAGAATGTGTATCTATATTATATATATA GATATATAGATATCTATTATATCTATATATAATAGATATCT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	186	0.0054	-2190	c.108 others(21): Show c.1084-13332_1084-11143del	MMP16	ENSG00000156103.16	transcript	ENST00000286614.11	protein_coding	6/9			chr8	TogoVar
ZYG11A_chr1_52837760_52899998	52889964	TGGCCTCC others(2179): Show TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACGGCGCCTGGCCT CAATTTGCTGAATACCATTTTCTTTGCTCATCACTGCTTGTTTTTTTTTT TTTTTTTCTTTTTTTTAACCCCCACCACTCCTTTTCTGGATTCAGGTTTT GATAGTGCATTACTGACAAAATCTCTTTGTCACCCCACCCCTATTCTTAC TCTTAAATAATAATATAGCTGGATGTAGAATTCCAGATAGTTACTTACTT TATTTTAGCATTTGGGAGAAAAATATTTTCTTTTAGTTTTTTTTTTTTTT TTTTTTTTTTGGAGACAGTCTCTGTCGCCCAGACTGGAGTGCAGTGGCGT GATCTCTGCCTCATAGGTTCAAGGGGTTCCCCTGCCTCAGCCTCCTGGGT AGCTGGGACTATAGGCATGCACCACCATACCTGGCTAATTTTTTGTGTAT TTTTAGTAGAAACCGGGTTTCATCATGTTGGCCATTCTGGGTCTCAAAGT CCTGACCTTAGATGTTCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGC ATGAGCCACGACACCTGGCCATTTTCATTATTTTCTATTGTTGCTGTTGG GGTCTACTGTCAGCCTAATTATCATTTCTTGATAGGTAATTTTTCTTTTA CTTTTTTTTTTGAAACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAG TGGCACAGTCACAGCTCACTGCTGCTTCAACCTGGGCTCAGGTGACTCTC CCACTTCAGCCTCCTGAATAGCTGGGACTATGTAGCATCACACCCAGCTA ATTTTTTTATTTTTTGTAGACACATGGTCTCACTACATTGCCTTGATCCT CCTGCCCAGGCATCCTAAAGTGCTTAGATTACAGGAATGAACCACTATGT CTGGCCTATTTCTCTTTAACTGGGTCTAAATCTTTTTCTTTTCTTTTCTT TTTTGAGACAGTTTCGCTCTTGTTGCCTAGGCTGGAGTGCAGTGGCATGA TCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGACTCTCCTGCC TCAGCCTCCTGAGTAGCTGGGATTACAGAGGCCCACCACTATGCCCGTCT AAGTTTTTGTATTTTTAGTAGAGAAGGGATTTCACCATGTTGGACAGGCT GGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTTCCAAAG TGCTGGGATTATAGGTGTGAGCCACCGTACCCAGCCAACTGGGTCTAAAT CTGCTCTTGGACTGTCTTTAATTTCAGTGATACATTTTTAAATGTCTGAA CTTTTTATTTGCTTCTTTTCCAGATATTCCTATTTTTTTTCTTCTTTAAA AGTAATTATTTTGTGGTCTTTATCTGATCTTATTATGTGTGTTATGTTGA GTGGGGGCAGTTTTGGATTGTGAAGTCAACTTTAGCAGGGCTTATTTTTC TGAGAATTCATTTTAGAATGGATTGGCGTGTCCCTGAGGCGGTTTTGTAT TCGCTTCTGTGAAGTGCTCCAGAGGTTTCCATAGGCTTGTGCTCGTTTTT TTATATTAATTTCTCAGCAATATTCAGGTAGTGTAAACTCAAACCTTATT ACCCACTTGGGATTGTGGTCATGAGAAGATTTCTCCTCTCCTACTCCCGT ATACCCCTACAGCCCCATCCATGACAGAGATGCTTCAGTATCTTATCCCT TTTCTTATCTAGCCCTTTGTGGGTCTACTTTTATGTAGGAATATTGCCTC CAACTCTGCAAGCTGAAATTGAAATGCCTCAATTACTAAGACCGCCAGTT TCTTTCTGCCGCAGGCTAAGCTGCAGGTTAGCTTACACTAGCTGAAGTGC TCTTTGTTTCCAGCTCCTGGAAAATTCCTTTAGTTTGTACATTCATCTAT GCATTAAAAAATTTGTGAATTATATTTTATTTAACATCTGGTGTTTTTTA TTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTG ATCTCGGCTCACTGCAAGCTCACCTCCCAGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACGACCACGCCCAGCT AATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03139.hp2 HG03453.hp2 others(2): Show HG03130.hp1 HG03139.hp2 HG03453.hp2 NA18906.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0010 a0003c0003t0010 a0003c0003t0012 a0001c0001t0010 a0003c0003t0010 a0003c0003t0012	a0001c0001t0010g0003 a0001c0001t0010g0256 a0003c0003t0010g0081 others(2): Show a0001c0001t0010g0003 a0001c0001t0010g0256 a0003c0003t0010g0081 a0003c0003t0012g0079 a0003c0003t0012g0080	5	290	0.0172	-2186	c.210 others(18): Show c.2105-2780_2105-595del	ZYG11A	ENSG00000203995.11	transcript	ENST00000371528.2	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP2_chr8_732628_1713476	1395817	CTCCCTCG others(2178): Show CTCCCTCGTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCCC CTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCC TCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCAT CCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTTCTC CTGAGTCGTGTATTGAGTGCTTACTGAGCCTCATCCTCCAGGGTAGTGTA TTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGA GTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGC TTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTAC TGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAG CGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCT CCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACTC CTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTG TCCTCCAGAGTCGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTTGTCCT CCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGG AGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTC GTGTATTGAGAACTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGT ATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTG AGAACTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGACGG ACCTTTGCCAGGTGATGGCACAGTAGTGATGCTCATGGGCTGTGTTCTTT CTTCGGGATAATTGCAGCTTGAAACTCCTGGGCATCTGTGATTGGACTTT GGCAAAGTGAATGTATGTGTGTTGGAATGGGGCGTGTGTCTTTGTTAAAT GTGACGTTTCTGTTTTTTTTTTGAGACGGAGTCTCTGTGACTCTTTTTTT ACAACTATTCCCCCCAAATGGAGACAGATCAGTTTTGCTCTAAATGTGAA TCCGAGGCCTCAGGAAGGCATTCGAGGTTTTCAGAACCTCCTTGTCCTCC TGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAG TCGTGCATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGGGTAGT GTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCTGCCTCCTCATCCTCCTGAGTCGAGTATTGAG TGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGC GCTCCCTCCTTGTCCTCTGGAGTCGTGTATTGAGTGCTTACTGAGCGCCC CCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTC CTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTG TCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCT CCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAA AGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTC GTGTATTGATGTTTTTACTGAGCGTATCTCTTCATCCTCTCTTGAGTTGT TATTGATGCGCTTACTGAGCTCTCCCCCTCTTGTCTCCGGATTCTGTTTT TTCACTGCTTATTTTGTCTTTCCTTCTTCCCTTTTTTAGGTGACTGGACT TTGGCAAAGTGAATGTATGTGTGTTGGAATGGGGCGTGTGTCTTTGTTAA ATGTGACGTTTCTGTTTTTTTTTTGAGACGGAGTCTCTGTGACTCTTTTT TTACAACTATTCCCCCCAAATGGAGACAGATCAGTTTTGCTCTAAATGTG AATCCGAGGCCTCAGGAAGGCATTCGAGGTTTTCAG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-2185	c.107 others(21): Show c.107-105548_107-103364del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14			chr8	TogoVar
FAT2_chr5_151499092_151596331	151501246	TCATAATT others(2178): Show TCATAATTAGTGTGCGACAGAGCTGGGCTTGGAATCAAACCTGTTCAACC TCAGAGCCACTGCCTGCGTGGTGTCTCCCACGGGTGTGCCTTCTTTGCCC AGCTGGATTGGGAACTTGAAGGCAGGGACTGGGCTTTCCTGTCTCGGTGT CATCATGGTTGCCTGGTGAAGTCACATTTAGCTGGCGACTAAGGGTGCGC TGTGGAGTAGCAGCCAGAGGCTGACTCTGGGTCCCAGGAGGGACCAGGCT GGTTTTGAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAG TGCTGGGATTACAGGTGTGAGCCACACACCCGGCCTGGTATTATTTTCTG TCATACTGGCCACCATTTATTGTTTATGCTTTAATAAACTTTCCATTTAC ATGTATTTCTCATGACAATATGAGATAGCTATTATTCCTATATTATTTAC TATCTTCATTTTACTGAGGAATGAGAGGCCTAACTGAACTTTGACAAAGG AGCAAAGGCACCACAATGGAGCGAACAGCCTTTTCAGCAAATGGTGCTGG ACAGCTGGACAGCCACATGCAAACAAAATGAATCTAGATCTTACATCCTT CACAAAAAGTAACTTAAAGTGGACCATAGACCTAAATGTAAAATGCAAAA CTATAAAACTCCTAGATGATAACATAGGAGAAAACCTGGAGACCTTGGGT TTAGCAATGAGTTTTTAAATAAAACACCGAGGGCATTCTGTATAAAAGAA ATAAGCCAGACTTCCTTAAAATTAAAAACGAGTAGGGCAGGTGCGGTGGC TCATGCCTGTAATCTCAGCACTTTGGGATGCGGAGGCGGGTGGATCACCT GAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTC TACTAAAAATACAAGAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCC CAGCTACTCAGGAGGCTGAGGTGGGAGAATTGCTTGAACCCAGGAGGTAG AGGTTGCAGTAAGTCGAGACTGTGCCACTGCACTTCAGCCTGGGCAACAG AGTGAGACTCTGTCAAAAAAAAAAAAAGTTAAAAACCTATGCTTTGTAAA AGACAGTGTCAAGAAGACAAGGCACAGACTGAGAAAATATTTTCAAAGGC ATATCTGATAAAATACTGTTTTCTAAAATATACAAAGAACTCTTAATACT CAACATTGAGAAAACAAACCAGTTTAAAAATGAGCCAAACATCTTAACAG CCACGTCACTAAAGCAGATCTATAGATGTCAAAAAAAAAGCACATGAAAA GATGCTCCACATCATATGTCATCAGGGAAATGCAAAATTAAGACAACAGT GAGATACCGCACCGCACACCCATTAGAAAGGTGGAAACCCAGAACACAGA CACCACCAAATGCTGGTGAGAATGTGGAGCAAAAGGAGTTCTCATTCACT GCTGGTGGGAACGTGGAATGGTTCAGCCACTCTGGAAGACTGTTTGCCAG TATTTACCCAGAGCTAACCTATATCTACATAAAACCTGCACACAGATGTT TATAGCAGTTGTATTCATAGTTGCCAAAACTTGGAAGCAACCAAGATGTC CTTGAGAAGGTGAATGGGTAAATAAACTGTAGTACATCCAGACAGTGGAG TATTATTCGGCACTACAAAGAAATGATCAAGCCCTGAAAAGATATGGAGG AATCTTAAATGCATATTACTAAGTAAAAGAAGCAAGTTTGAAAAAGCTAC GTATCATATGATTCCAACTATATGACATGCTGGAAAACTATGGAGACAGC AATAAGTTTCGTGGTTGCCAGGGGTTAGGGGGCAGGAGGGAAGAGTAGGA AGAGCACAGAGGATTTTTAGGGCAGTGAAACCATCTGCAAGAGCCTGTAA TGCTGGATACATATTATACATTTGTCCAAACCCATAGAATGTGCAACACC AAGAGTGAACCCTAATGTAAACTATGGACTGTAGGTGATAATGACCCATC AATGGAGAGTTGTCAGTTGCAACAACTATACCATTCTGGTGGGGAATGTT AATAATGAGGGAGGCTATGTATGGGAGGGAAGGCATATCGCTGTACCTTC CATTCAGTGTTTCTGTGAGCCATAAAACTGCTCTAAAAAAATTCTCTTTG AAAAATGAGAGGCCAAGTCATATCTGCTCAAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG01433.hp2 others(32): Show HG01109.hp2 HG01243.hp2 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02647.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0010 a0015 a0021 a0024 a0033 a0057 a0070 a0072 a0076 a0081	a0001c0010 a0001c0020 a0001c0047 others(18): Show a0001c0010 a0001c0020 a0001c0047 a0002c0001 a0002c0006 a0003c0029 a0004c0152 a0005c0014 a0005c0030 a0010c0011 a0010c0082 a0015c0043 a0021c0056 a0021c0167 a0024c0034 a0033c0058 a0057c0122 a0070c0157 a0072c0166 a0076c0111 a0081c0103	a0001c0010t0001 a0001c0010t0005 a0001c0020t0005 others(20): Show a0001c0010t0001 a0001c0010t0005 a0001c0020t0005 a0001c0047t0005 a0002c0001t0005 a0002c0006t0005 a0002c0006t0034 a0003c0029t0005 a0004c0152t0001 a0005c0014t0001 a0005c0030t0001 a0010c0011t0001 a0010c0082t0001 a0015c0043t0001 a0021c0056t0005 a0021c0167t0005 a0024c0034t0001 a0033c0058t0005 a0057c0122t0001 a0070c0157t0001 a0072c0166t0001 a0076c0111t0001 a0081c0103t0001	a0001c0010t0001g0289 a0001c0010t0005g0058 a0001c0020t0005g0167 others(32): Show a0001c0010t0001g0289 a0001c0010t0005g0058 a0001c0020t0005g0167 a0001c0020t0005g0172 a0001c0047t0005g0290 a0002c0001t0005g0036 a0002c0006t0005g0163 a0002c0006t0034g0358 a0003c0029t0005g0291 a0003c0029t0005g0292 a0003c0029t0005g0293 a0004c0152t0001g0176 a0005c0014t0001g0051 a0005c0014t0001g0055 a0005c0014t0001g0056 a0005c0014t0001g0059 a0005c0014t0001g0182 a0005c0030t0001g0015 a0005c0030t0001g0060 a0005c0030t0001g0180 a0010c0011t0001g0032 a0010c0011t0001g0034 a0010c0011t0001g0035 a0010c0082t0001g0162 a0015c0043t0001g0075 a0015c0043t0001g0141 a0021c0056t0005g0046 a0021c0167t0005g0048 a0024c0034t0001g0241 a0033c0058t0005g0243 a0057c0122t0001g0082 a0070c0157t0001g0164 a0072c0166t0001g0047 a0076c0111t0001g0076 a0081c0103t0001g0315	35	398	0.0879	-2185	c.21 others(11): Show c.2134_*4318del	FAT2	ENSG00000086570.13	transcript	ENST00000261800.6	protein_coding		2845		chr5	TogoVar

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Search Results (Total: 1673 hits)