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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
NUP205_chr7_135552917_135653753	135588198	TGACGCGA others(2178): Show TGACGCGATCTCAGCTCACTGTAGCTTTGACCTCCCAGGTGGAAGTGATC CTCCCGCCTCAGCCCCCAGGGTAGTCGGGACTACAGGCATACACCACCAC ACCCGGCTAGTTTTTGTATTTTTTGTAGAGATGGGGTTTTGCCATGATAC CCAGGCTGGTCTGTAACTCCTGAGCTCAAGTGTCCATCTGCCTCGGCCCT CCCAACGTGCTGGATTTACAGGCATGAGCTACTGTGCCTAGCCTACTTTT CTCTTTTATAAAAGAAAATTTGAAACTCTTAAAATTTAAGTTCTGTTGAT TTTGAAGTTAATGTAGTCAATCCTTTATTGGATACTAGATATGTGTTGAA TTATTAGAGGCAGAAAGGCATCCAGTCTCTTTATTATTTACTTATTTTTA AAAGACAGGGCCTTGCTATGATGACCAGGCTGGTCTGTAATTCCTGGCTT CATTCAGCCTTCCCAAAGCAGTGGGATTACAGGCATGAGCACTGTGCCCC ACTTGAATTTTATTAGTATTTTAGTTCTCCATAGGCATGACAATCTTTTC AAGTTTGGGAGGATAGGAGAGGTACAAGTATTAAAGGAGAATTCTTAGAC GTTTTAATTGATGGCAAAATGCCTATGAGTCTGTAGATAATACAGGCAAA AATTCTTTCTGTATTAACTAAAGTATGATGTGCAGAGGCAAATAAAATGA ATTGCTATGCAGTAGTTCACACCTGTAATCCCAGTGCTTTGGGAAGCTGA GGTGGGAAGATCGCTTGAAGCCAAAATTTGAGACCAGCCTGGGCAATGTA ATGAGACCCCATCGCTACAAAAAATACTAGCTCGGTGTGCTATCATGAGC CTGTAGTCCTAGCTGCTCAGGCTGAGGCAAGAGGACACGTTGAGCCCCGG GGTTTGAGGTTACAGTGAGATGTGGTTACGCCACTGCACTCCAGCCTAGG CAACAGAGTGAGACCCTGACTCTTTAAAAAAAAAAAAAGAGTTGGCAGGA GATTGCCATGTTCATTTTGGGGGATTTCTGTTCTAGAAGCTTTTATGCAA TGTGTGTGTGTGTGTTTTTTTTTTTCTGGACTCCAGATCAGATGCCTTTT TTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCG CAATCTCAGCTCACCCCAACCTCCTCTGCCTCCCAGATTCAAGCGATTCT CCTGTCTCAGCCTCCCGAATAACTGGGGTTATAGACATGCGCCACCACGC CAGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCA GGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACTCGCCTCAGCCTCCC AAAGTGCTGGGATTGTAGGCATGAGCCACTGTACCTGGCCCAGATGCCAC TTTTTAAACTGTATTGTTTCAGTGTTTTTCTCATTTAAAAAATACGTTTT GAGCCAGGCACGGTGCTTCACACCTGTAATACTTGCACTTTGGGAGGCCA AGGTAGGCAGATTACTTGTGCTCAGGAGTTTTAGACTAGTCTGAGCAACA TGGTGAACCCTGTCTCTACAAAAAATATTTTAAAAATTAGCCAGACATGG TGGTGCGTACCTATGGCCCCATTTGCACGGGAGGCTGAGGTGGGAGGATC ATTTGGGCTGCAGTGAGCTGTGATTGTGCTACTACATTCCAGCCTGGGTG ACAGAGTAAGACCCTGTCTCAAAAGAAAAAGAATGTTTTGGAGAAAGATT TCCTTAAAAATTTTTAAAGTTTTTAAGAAAGCTAGCAGTAATGAAAAATT TGAAACATGTGGAAGAGGGAATTATTATAAGGAATGCCCCACATTTTAAT TTCACATCTTAAGTTAACATCTTATGATGTTTGCTTCATCTACTATATTA TTATTTTATTTATTTATTTATTTATTTATTTTGAGACAGAGTCCCACTTT GTCACCCAAGTTGGAGTGCAATGGCCTGATCTCGGCTCACTGCAACCTCC GCCTCCTGGGTTTAAGTGATTCTACCGCCTCAGCCTCCCAAGGAGCTGGG ATTACAGGCACCCGCCATCATGCCCAGCTAACTTTTGTATTGTTTTAGTT GAGACGGGTTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTC AGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00738.hp1 HG01978.hp1 others(10): Show HG00673.hp2 HG00738.hp1 HG01978.hp1 HG02148.hp2 HG03041.hp1 HG03209.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03927.hp2 NA20129.hp1 NA20752.hp2	a0002 a0002	a0002c0006 a0002c0019 a0002c0006 a0002c0019	a0002c0006t0001 a0002c0019t0001 a0002c0006t0001 a0002c0019t0001	a0002c0006t0001g0008 a0002c0006t0001g0011 a0002c0006t0001g0012 others(10): Show a0002c0006t0001g0008 a0002c0006t0001g0011 a0002c0006t0001g0012 a0002c0006t0001g0013 a0002c0006t0001g0019 a0002c0006t0001g0074 a0002c0006t0001g0081 a0002c0006t0001g0082 a0002c0006t0001g0083 a0002c0006t0001g0084 a0002c0006t0001g0142 a0002c0006t0001g0252 a0002c0019t0001g0016	13	352	0.0369	-2185	c.147 others(18): Show c.1473+209_1474-1065del		NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	10/42				INFO_REALIGN_3_PRIME	chr7	TogoVar
SMYD3_chr1_245744347_246512279	245974581	CAGGGAAA others(2177): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCTGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCTGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGT CTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCATCTCTAGCCTAGGGA AAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGC CATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCT AGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATC GTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0132 a0002c0007t0001g0132	1	150	0.0067	-2184	c.532 others(19): Show c.532-46828_532-44645del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11					chr1	TogoVar
CD2AP_chr6_47472789_47632263	47596993	CATGTTGA others(2174): Show CATGTTGAAAGCTGGATATGTAAACAAAGATCACAGGCAGGTTCTGGGAA TTTTATTGGAGCTTTGGTTATTAAAATGCATCAGTAAATTCCCAGGGTGC TAAGCACTATTCTGTTGGCTGTGCCAACAGTCCTCATGCATGCTTAAAAC ACTTGGGGGAATTATAGTACAAATCCAGTCAGGGTTGGAACCATGGCAAA CCAAGGGCTCTTAGAGATGGACCTGTTTGTGCTGCTAGGCATCATGGAGA AAGCAGCAGACGAAGAGGTGAAGGAGGCTTATAGGTAGAAGGCCCTCTCC TGCCACCCAGACAAGTTGGATAATCACAGAGCAGCTGAACTCCTCCACTA GCTTTCTCAGGCCTTGCTGCAGCCAGGGCTGCATATGATGATGTTAGAAA AGCCAAGAAGCAGACAGCATAGAGGACCCAGAGGCTTGATGAGAGAATAA AAAAAGCTAATCATGACCTGAGGCCCAGGCCCAGGTGAGTGAGAAGGTGG AGGAAAGCTAGAGCACCAGGACACTTGAGCAGGAGATTGAACATCTTAGT GAATAGTGTTCATGGCAGCTGGAGGAACAGCAGATGATGATCCAGGAGCA GATGTGCCAGGAACTTGACTTGAGATTAGAAGTCAGAAAATACTGAAGAC AAAGGAACCCAAAACTAAAACTGAAATGGAAGTACAAGAAGGATGAGTCA GAAGGCAGTTACTCCAAAGGTGTCCTCCTGTGGCTTTTGCAAAAGTATGG TGGAATTCTCAACCTGGTGCTTTTGAGTAAGAAGGCAGGTACTGGTGTCG TGGAGTTTGGGACTGTCGAGGCTGCAGAGATGGCTGTCTGGAATAAAGTT GGCCTGGGTGATAATCCTGGAAAGATTTCCTCTTTCAAAGGAGGACTCCA GGGTGCAGTGGGCCCCACCCACCCAGGACAGTGAAGGGACCCAGTGGTGT CTCTTCTTACCACATGCAGCAGTAGTCAAGGAATGGCAGCCCATTTAGTC TCCTGCCACAGCCTTCCTAAGTCACAGCCCTTTTTAAAACATCACCAATA AACTTTAAAAGCAAGAAAGAAACAATCCCATCAGAAACTGGACTAAGTAC ATGAATAGACAGTTCTCAAAAGAAGATATACAAATGGCCAACAAGCATAT GGAAAAATGCTCAAAGTCACTAGTTACCAGGGAATACAAATCAAAACCGC AATGTGATACCACCTCACTTCTGCAAGAATGGCCATAAATCAAAAAATCA AAAAATAATAGATGTTAGCATGGATGCAGTGAAAAGGGAACACTTGTACA CTGCTGGTGGGAATGTAAACTAGTAGAACCACTATGGAAAGCAGTGTGGA GATTCCTTAAAGAACTAAAAGCAGATCTACCATTTGATCCAGCAATCCCA CTACTGGGTATCTACCCAGAGGAAAATAAGTTATTATATGAAAAAGATAA CTTGCACATGCATGTTTATAGCAGCACAATTCGCAATTGCAAAGTATGGA ACCAGCCCAGATGCCCATGAATCAACGAGTGAATAAAGAAATTGTGGTAT ATATATATACCATGGAATACTACTCAGCCGTAAAAAAGATGGAAAAAATG GCATTCACAGCAACCTGGATGGAATTGGAGACTCTTATTCAAGTGAAGTA ACTTAGGAATGGAAAATCAAACATTGTACGTTCTCCCTAATATGTGGGAG CTAAGCTGTGAGGACACAAAAGCATGAGAATGATACAGTGGACTTTGGAG ACTTGAGGGGAAAGGGTGGGAGGGGAGTGAAGGATAAAAGACTGCACATT GGGTACAGTGTGCACTGCTCGGGTGGTGGGTGCACCAGAATCTTAGAAAT CACCACTAAAGAGCTTATTCATGTAACCAAATGCCACCTGTTTCTCAAAA ACCTGTTGAAATAAAAAATAATCTAAAATAATAAAAAAAATTTAAAAAAA AATACAGGAGCATTCTGTACATTTTGATTTAGCTCTCACTGTTGCTTACC TTCCAGAGTTGTCCTTCTATTGTTGCAATTTAATTTTTAAGTATTATTTT TAATATTTTCTGTATACTAATATCTGTTGAATGTTAATTTTATGTTATAA TAATTTTCTACACTTAACTAAACTGTTCTCACATTTTTTATTTTATTGTG ATCAGCCTTAGGAGAGAGTTTTGCGTTTATGG	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA20805.hp2 HG02683.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0034 a0001c0001t0010 a0001c0001t0034	a0001c0001t0010g0108 a0001c0001t0034g0107 a0001c0001t0010g0108 a0001c0001t0034g0107	2	322	0.0062	-2181	c.127 others(17): Show c.1274+969_1275-126del		CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	12/17				INFO_REALIGN_3_PRIME	chr6	TogoVar
BECN2_chr1_241952767_241964062	241959206	TGGCTAAT others(2172): Show TGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGACCA GGCTGGCCTTGAACTCCTGACCTCAGGTGATCCACTCGCCTCACGGCCTC CCAAAATGCTGGGATTATAGGCGTCAGTCACCACACCCGACCTTCTTTTT TTTTTCTTTTCTTTTTTTTTTTGAGGCAGAGTCTCACTCTGTGGCCCAGG CTGGAGTGCTGGAGTGCAGGGGAACAATCTTGGCTCATTGCAACCTCCAC CTCCTGGGTTCAGGCAATTCTTCTGCCTCAGCCTGCCGAGTAGCTGGGAT TACAGGCACGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGA CGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAACCTCCTGATCTCAGGT GATCCGCCCGCCTTGGACTCCCAAAGTGCTGGGATTACGGGCATGAGCCA CCCCGCCCAGCCCACTTTCTTTTTTTCTAAAGTACTATAAATATATTATC AGATAAGTCTTCCCCAACACACCTTTGTCCCTTCTTCCTTGTAACTTCCA CTCCCCTTCTCCACCCGAACATTCAAAATGACAGGAAAAATTAAATTACA AGAGGCTAAGATTATTCCTGCATAAAGGGATAAAGGGACACAGAGGCAAG GACTAAGTGTGGGGAGGAAAGGGCACGGTGAGGAGCAAGGTGGAGGTTTC CAATTTTTTAATTTAAAAACATTTTGGGCCATGGATGTATGTAATGGAAC ATTGAAGTCGGGGGCAGGGGAGAGAATACTCAAAAATTTCGTTTTTGTTG TGATGCATAGTGTAAGCCCCTCCTCTTCATCCTTGAGAAACTTTCAATAA ATTTCGACATGTTCAAAGTGAAAGGTGAGTCTTACTGGACTGTGTCATGA TGTTGAGATTAACTGTGAGGTGAGGGGCTGGGGTGGCCAGGAAGTGACTG GTAACATTGGCTGGTAGATAAATTAAGGGGTCTTGAGGTGAACCCTTCCA GAAAGCTGAAGATTGAATCCTAGCACTTTGAGAGGTGGAGGAGGGAGAAA TGCTTGAGCCCAGGAGTTCTGAGACCAGCCTGGGCAACATAGGGCGACCC CATCTTAAGGAAAAATTTTTAAATTAATTTAATTTTTTTTTTTTTTGAGA CAGAGTTTTGCTCTTGTCTCCCAGGCTGGAGTGCAGTGGTGTGATCTCAG CTCACTGCAACCTCTGCCTCCCAGGTTCAGGCAATTCTCCTGCCTCAGCC TCCCTTGTAGCTGGGATTACAGACATCCACCACCACACCCAGCTAATTTT TTTTTTTTTTTTGAGACAGAATCTCACTCTGTCGCCCAGGCTGGAATGCA GTGGCACAATCTCAGCTCACTGAAACCTCTGCCTTCCAGGTTCACGATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTATGTCACCATG CCCAGCTAATTTTTGTATTATTTTAGTAGAGACGGGGTTTCACCATGTTG GCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACAGGCCCGACTTGGCC TCCCAAAATGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTACAAA ATATTTTTTAAAAATTAGCCGGGCGTGGTGTGGTGTGCACCTGTAGTCCT AGCTACTCTGGAGGCTGAGGTGGGAGGATCCCTTGAGCCTGGGAGGTCCA GGTTGCGGTGAGCTGTGACTGGGCCACTGCACTCGAGCCTGGGCAACATA GTGAGACCCCATCTCTAAAAAATAAAAAGTAAAATAAGCCAATCAGAGAA AGCTTTTAAAATGCAAATTGTATCATGCCTTCCTCCAGCTTCTCCATTGC CCTCATAAAATCTCAAATCCTGACCACACCTTTCAGCCCCAGAAGATCTG TTCCTGCTGCCTCTCCAGGCCCAGATTATACTTCTCCCAGTTCCTTTCTG TGCCAAAATGTGCCAAGCCTATCACTCCACCTTTGCCTGTGCTCTTCCCT GTGTGTCAATGTCTTCTTTTTTATGTATTTATTTTTTTGAGACGGAGTCT CCCTCTGTCACCCAGGCTTGAGTGCAGTGGCTCAATCTAAACTCACTGCA ACCTCCGCCTCCTGGGTTCATGTGGTTCTCCTGCCTCAGCCTCCTGAGTA GCTGAGATTACAGGCGCCTGCACCACGCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 NA19056.hp2 HG02132.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	2	444	0.0045	-2179	c.14 others(10): Show c.145_*2323del		BECN2	ENSG00000196289.7	transcript	ENST00000419583.2	protein_coding				145		chr1	TogoVar
OR7G1_chr19_9109828_9120763	9112268	GCATGCCT others(2170): Show GCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCTCTT GAACCAGGGAGGCGGAAGTTGCAGTGAGCCTAGATTGCACCTTTGCACTC CTGCCCAGGTGACAGGCTCCATCTCAAAAACAAACAAAAAAACAAACAAC CAAAAAAACCACCAAAAAACACCAGAGTGGACTTCCCAATAGGAATTATA CTTTATATGGTCAGTCTAAGGCTCTCATACTAATCATTTCCCCCTCACCA GGAATTAGATTAAGAAAAAATATATGATCTATCTCTCTGTGGTGAGATTA AAGGTGATATCTTTTGGATTACTCTATGCAATCCCATTTATCAATAGATC TGGGAAGAAGAGTCAGATTTCTGTCTCTGGGCATCATGTCTGGGTATTAC GTCTGTATTTGCTACAGCCATCTGGGTCCATGAGGGGAACCAGCCCTAAA AGAAAGCCACAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTT AGGAGGCTGAGGTGGGCAAATCACTTGAGGTCCGGAGTTCAAGAGCACCC TGGCCAACACGGTGAAACCCCATCTCTACTGAAAATGCAAAACTTAGCCA GGTGTGGTGGTGTGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTG CCACTGCACTTCAGCCTGGGTGACAGAGCCAGGCTGTCTAAAAAAAAAAG AAAGCCAAAAGAAGAAGGAGTAAGTGAATTATTCTCTACATTCCCTACCT CTGATATATTTGCAAAGAAATGTAGCTCTCTTTATTATTTGAGTATATTA TAATCAACATTTCTTTCACTAAAGCCGACTTCTTCACTGATCAAGATAGA ATATCTCACCACTAGGCCGGGCACAGTGGCTCACACCTGTAATCCTAGCA CTTTTGGGAGGCTGAGGTGGGCGGATCCAAAGGTCAGGAGTTTGAGACTA GCCTCGCTAATACGGCAAAACCCCATCTCTACTAAAAATACAAAGATTAG CCAGGTGTGGTGGCAGCTGTCTGTAGTCCCAGCTACTGAGGAGGCTGAGG CAGGAGAATAGCTTGAATCTGGGAGGTGGAGTTTGCAGTGAGCTAAGATT GCACCGCTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCTCAA AAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAATCTCACCACTGA AATAATCTAATGATAGCAATTTTATTGATGATAAAACTGAGGGTAGTAAG TAGACGTTGATGTTGACCTGCACAGACAGTTTAGCAGTGACCGGGCTCTA AAATTACAGAATTCTGGTATCAACAATCAGCTCCCATTTTGCACAATAGG TTTCACTCTGGCATGCATTTCATATGGCCCTAAATATTCAATCAGGCAGT ATCAATTCTGTGTTGCGAACACAGCCTTCTTTGGATTCTTGCCCTGACCT GTGAGACGCCTCCTGCTTTTCTTCCTCTGAGAATATTTACCAACCAAATC ACTGTAACACTTGCCACAGGTTAACTTTTTAAACACCGCATGCAAAGAAA CTGAGCTTTGAGAATAGAATTCATTTTTGACACATGACAGAGCTCCAAAA GAGGCAAGATTTCAACAACAACAACAAAAAACACACACACACATCCATGA TGCAGACTAGTCACTTTAAGAAAATCTTGAAAGGTCGGGCGCGGTGACTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTAGG TCAGGAGATTGAGACCATCCTGGCCAACACGGTGAAACCCCATCTCTACT AAAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCC AGCTACTCAGGAGGCTGAGGCAGGGGAATGGCGTGAACCCAGGAGGCGGA GGTTGCAGTGAGCGGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGA GCGAGACTCTGTCACAAAAAAAAAAAAAAAGAAAGAAAGAAAAAGAAAAT CTTCATGATGCAAGAGTCAGGCACTCTGGCTTACCAAGGAATCCTGTCAT GTTGATTCCTTTTAGAAGCTTCAGTTCAAAGCAGAGCACAAAGATCACAA AAAAGAAAGTAGGTCAGGCATAGTGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00738.hp2 others(26): Show HG00280.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp2 HG01993.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG03688.hp2 HG03942.hp1 NA18522.hp2 NA18940.hp2 NA18964.hp2 NA19001.hp2 NA19006.hp2 NA19064.hp2	a0004 a0006 a0009 others(3): Show a0004 a0006 a0009 a0010 a0011 a0012	a0004c0004 a0006c0007 a0009c0012 others(3): Show a0004c0004 a0006c0007 a0009c0012 a0010c0011 a0011c0010 a0012c0013	a0004c0004t0000 a0006c0007t0000 a0009c0012t0000 others(3): Show a0004c0004t0000 a0006c0007t0000 a0009c0012t0000 a0010c0011t0000 a0011c0010t0000 a0012c0013t0000	a0004c0004t0000g0000 a0006c0007t0000g0000 a0009c0012t0000g0000 others(3): Show a0004c0004t0000g0000 a0006c0007t0000g0000 a0009c0012t0000g0000 a0010c0011t0000g0000 a0011c0010t0000g0000 a0012c0013t0000g0000	29	410	0.0707	-2177	c.38 others(10): Show c.383_*2559del		OR7G1	ENSG00000161807.3	transcript	ENST00000541538.1	protein_coding				2559		chr19	TogoVar
BRSK2_chr11_1384934_1467689	1429738	CGGTCTGG others(2167): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGG TTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTC AGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT CAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTT CTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTG CGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGC CACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0177 a0001c0001t0004g0177	1	360	0.0028	-2174	c.92- others(15): Show c.92-6275_92-4102del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19				INFO_REALIGN_3_PRIME	chr11	TogoVar
CYP3A43_chr7_99823013_99871093	99863766	AAAAATTA others(2166): Show AAAAATTATTGTTCATTTTTCAATAATTTGCTCTGTAGGACAAAGAATCT AATTGGAGCTATCCATAATGCTTAAAGATGAATCACTTCTGGAGTTCAAA ATCTGTGGCTTTGTAAAGACAGAACTATAAAGATCATCTAATGTCAATAT AGATTAGCATGGTATAATTATGTTCAGTCTCTGTGAACTTGAGCAAATTT TAAATTCAGTTTCATGTCAACTGTAAAGATGAGGAAGTCTTTTGCACAAT CATGAAGTGCAATGATTACTTTGTCAGGACTTTCGAATGGTGCTCTCCTC CACTAGAACTCACTAGAACTTGCAGAAGCTTTCTCATGACAGTGTTTCTC AACCACTAGCTGTACATTGGAATCACTGGGGAGCTTCAAAAATTCATGAT GCCTGGATCATCTCACAAATTCTAAACTAATTTGCCCAGAGTTGTGGCTT TAAAAGCTCTCCCATTGGTCCTCATGTGAAGCCAATGTTGGGAATCACTA ATTTAAGGCATTTCTGCCAGATAGAAAAGATACTTACAGTCCAAGGCCAT CCTGACCATTTGACCTTATCTTCCAGGAGCACTGCTTCGCTGCTTCATAC AAGCTGTGCATCTTTTCAACCCAATAATAGCTCTATGAATGTTCTTCTTT TCCTTCTCATTATGTTCCTATCCCACAAGTCCTACATCAATTCCCCAAGC CACTCTAAGAAACCTTCCCCATCGAGTACAGGGCCAGTTATTCTTCTGCT TTGTTACTGTTTATTGCAGGCTGTTATCATCACCTAATCTTATACTTTTC ATTAAACCACTCAGTTTTATTCTACAAGTCTTTTCTCTATTCTAAGAATT TCTCCTCTCTGCCCCATTTATGTTGTTTTGTTTTAATTCTTTCATAAAAG TCCAATAGTGTCTTGCAGAGGACATTATCCATTGCAGGCATTCCACACAT GTTTAAGGAGTGAGTTTCAGTTGATTTGGAGTTCTTGGATACAAGTTTTA AGCTGTTTAATTTTTAAATTTAATATGTGACATTTGTATATTTGAGTGTG TATGTCTGTCTGCAGGAAAAACATTCATGCCATTTGAAATTTTAAAATAA TGAGTCACATTAATAGAAAGATATGGAATCTTTCTCTGAAGAACTTAATG AACACTTGTCATTTATTTATATCAAGCAAGGCCCTATAAGCCTTATTTCT AGGACTTGTGCATTTACTATGCAACTCCTATTCTAAAGTAGGCTTTGTGC ATGGGAAGGAAGAATAGATAGGGTTTCAATCTTATTTGTGGCTTTAGGGA AGCTGTACATCCATCCTCTAAGTGTGTACAGACAGGGGCTCAACTCTGAA TAAAAGCAGGTCTCTGGCACACATGGGATGGGGTGATACTCCCTGGCAAT TTCCCAAGCATCTACTAGCTGGCACTTTTCAATTTCCATGACAATTTGCC TGCCCTTCACTTAACTGACATCAGAACATTTCTCTGCTGGCTGCTCCCCT GACACTGAAGTGACTTGGGAGAATGAGGGCTCAAAGTATTAGTCAAAACA CTATAGGCCTTGAGAAGCTTCCCATTTGCATTTCCTTTGGAAATCAAGAG AAGAAGTAAAAAACAAAAGCATAATGCTTCTTGAAGATCTCTTCCCATCA TTACACTGGATAGGTTCAGTTGGATGGAGTTAGTGAATGCTTAATAAGTT GAAGACTGTCCATATAATTGAAATATATAACACCTACTGAGGATTACCTT GCAAGTTTCATCATATACAAAATTAACTTTATATGGCTTTTCCAAAATAG TTTAACATAATGCCTAATAATCTGGATTTGATTTTTTAAAATATCTCTTT GCTTAAAATTTAAATAAAAAGGAACAGAAGCCAGCATGAACAATCTCAAG CCTGGCACAGAATAGATACTCAATAAATATTTTGTTAAATGATGAATGGT AAATGCTTTCACTATCCAATCTTCACAGAGCTAACTGAACAAGTACAAAT AAACCAACATGTATGGTGCTGAAAGTAGTTTTTTTTTAGTCATTGCAAAG CATTACCCTTGATGTCATCTTTTTTATTTTGCTTCTATCTTTTCTTCATT TGCTTCATTGTTTCTGAATATTCTTGTTTAACTTTTGCAGATCCCACTGA AATTAGACAATCTACCAATTCTTC	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01109.hp2 HG01243.hp1 HG01884.hp2 others(25): Show HG01109.hp2 HG01243.hp1 HG01884.hp2 HG02055.hp1 HG02257.hp1 HG02258.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA20129.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0010 a0002c0011 a0002c0014 others(3): Show a0002c0010 a0002c0011 a0002c0014 a0003c0004 a0003c0005 a0007c0017	a0002c0010t0001 a0002c0011t0001 a0002c0014t0001 others(3): Show a0002c0010t0001 a0002c0011t0001 a0002c0014t0001 a0003c0004t0001 a0003c0005t0001 a0007c0017t0001	a0002c0010t0001g0035 a0002c0010t0001g0180 a0002c0011t0001g0036 others(13): Show a0002c0010t0001g0035 a0002c0010t0001g0180 a0002c0011t0001g0036 a0002c0011t0001g0181 a0002c0014t0001g0182 a0002c0014t0001g0192 a0003c0004t0001g0011 a0003c0004t0001g0012 a0003c0004t0001g0184 a0003c0004t0001g0207 a0003c0004t0001g0208 a0003c0004t0001g0209 a0003c0004t0001g0210 a0003c0005t0001g0005 a0003c0005t0001g0226 a0007c0017t0001g0216	28	326	0.0859	-2173	c.141 others(12): Show c.1416+70_1452del	p.Ile others(13): Show p.Ile473_Pro485del	CYP3A43	ENSG00000021461.18	transcript	ENST00000354829.7	protein_coding	13/13	1417/1512	473/503		INFO_REALIGN_3_PRIME	chr7	TogoVar
DLGAP2_chr8_732628_1713476	1405216	GTGTATTG others(2166): Show GTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGT ATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTG AGTGCTTACTGAGCGCTCCCTCATCGTCCTCCGGAGTCGTGTATTGAGTG CTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTA CTGAGCGCCACCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGA GCGCCACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGC TCCCTCCTCGTCCTCCAGAGTCGTACTAACTGAGCGCTCCCACCTTGTCC TCCAGAGTCGCGTAACTCAGCGCTTACTGAGCGCCACCTCCTTGCCCTCC AGAGTCGTGTATTGAGTGCGCACTGAGCGCCACCTCCTCATCCTCCAGGG TAGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTAT TGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCT TACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGC GCCACTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCAC CTCCTTGTCCTCCAGAGTCGTGTATTGAGAGCTTACTGAGCGCTCCCTCC TTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGT CCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTC CAGAGTCGTGTATTGAGAACTTACTGAGCGCCACCTCCTCGTCCTCCAGA GTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCG TGTATTGAGAACTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTA TTGAGTGCTACTGAGCGCACCACAGTGCTTACTGAGCGCCACCTCCTCGT CCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTC CTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGA GTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAAAGTCG TGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTA TTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGA GTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGC TTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTAC TGAGCACTCCCTCCTTGTCCTCCGGAGTCGTATATTGAGTGCTTACTGAG CGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCT CCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCT CCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTT GTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCC TCCGGAGTCGTGTATTGAGAGCTTACTGAGCACTCCCTCCTTGTCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGT CGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTG TATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTATT GAGAGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGT GCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTT ACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCG CTCCCTCCTTGTCCTCCGGAGTCC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	40	0.0250	-2173	c.107 others(19): Show c.107-96126_107-93954del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14				INFO_REALIGN_3_PRIME	chr8	TogoVar
SMAD9_chr13_36839831_36925238	36900383	TGATTCTC others(2166): Show TGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCATGCC ACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCAT GTTGGTCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCACCTCAG CTTCTCAAAACGCTGGGATTACAGGCATGAGCCACCCGCTTGGCCGACTA TCTTATTTTAAACTGCAAACCCCCACCACCCCTACCTTACTATCAACCTT TCCTGATTTATTTTTCCCGAAAGGACTTACCACTAAAACTATCATTATGA CTACACACACACACACACACACACACACACACACACACACACACATAAAT GTAAATTATTTTACTTATTTTAAAAAAATTATTAAAGTGAAATGCACGTA ACATAAAATCACCCATTTTAAAATGAACAATTCAGTGGCATTTAATATGT TCACAATCACAGTGTTATGTAACCATCACCTTTACCTAGTTCCAAAACAT TTTGATCACTCCAAAATAGAACCCTATACACATTCAGCAGTTTTTTCCTA TTCTTCCCTCCCCATCGACCCTGGCAACCACCAATCTGCATTCTGTCTTT ATAGATTTACCTATTCTGAATTGTTCACATAAATGAAACCATAAACTATG TGTGATGAATCATATATGTGTGTGTTTGTGTGTGTATAAACAATTGATAG ATATAGTCCATATTCCACCTTTAGGTTATTGTGAATAGTGCTGCTATAAA CATTTGTGCAAAAGTATCTGTTTGAGTAGCTGTTTTCAGTTCTTTCGAGC ATATACCTAGGAGTGGAATTGCTGGGTCATACAGTAATTTTACTTTTAAC TTTTTGAGAGACTGCCACACTATTTTCCACATCATCTGAACCACTTCACA TTCCCATCAGAAACGTATGAAAATTCCAATTTCTCTACATCCTCACTGAC ACTTGTTATTTTTCACTGTTTCTGTTTTTATTATAGCATCTTAGTAGATA TGTAGTGATATATCACTGTGGGTTTGGCTTCTTTTTTGTTTTTTGGGCCT TTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGC AATGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGCACGTGCCACC ATGCTCCGCTAATTTTTGTATTTTTAGTACAGACGAGGTTTTGCCATGTT GGCCAGGCTGGTCTTGAACTCCTAGCCTCAAATGATCTCCCTGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGTCCACTG TGGTTTTGATTTGCATTTCTCTAATGCCTCATGATACTGAGCAAATTTGC TGTCCATTTGTATGTCTTCTTTGGAAAAATATCTATTCAAGTCCCTTGCC CACTTTAAAATTGGGTTGTGTGTATTTTTGTTGTTGCATTGTTAAAAGTT CCTTACATATTGTGGATATATAGACCCTGAGATACATGATTTGCAAATAT TCTTTCCTTTTCTGTATGTTGTCTTTTTATTTTCATTATGTCATTTGATG CATGCAAGTTTTTAATTTTGATGAAATCTTTTTCTTTTGTTATTCATGTT TCTGGTATCCTAAGAATCTATTGCCAAATTCAAGGTTATAAATATTTACC AATGTTTTCTTCTAAAAGTTTATGGTTTTAGCTCTTATGTTTAGGTTATT GATCATTTTCAGTCAACTTTTATATCTAGTGTGAGGTAGGGATCTAACTT TATTATTTTGCATTTGGCTGTGTAGTTGCCCCAGCACCATTTGTTGAAGA CATTGTTCTCCACTGAATAAAGAACTGGACTGTTTTCCATTGAATGGTCT TGAAATCCTTGTCAAAAATCAATTGGCCACAGATGTTCGGGTTTATTTCT GGACTTTCAATTCTATTCCATTGATCTCTATGTCTATTCTTACATCAATA CCACACTATTTTGATTACTGTATATTTGTAGTTAAGTTTTAAAATTAGGA AATGCGAGTCCTTCAACTTTGTTCTTCTTTTTTTTTTTTGAGATGGAGTC TTACTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACAGC AACCTCTGCCTCCCGGGTTCAAGC	T T	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	358	0.0028	-2173	c.-18 others(21): Show c.-187+17560_-187+19732del		SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/6					chr13	TogoVar
GAL3ST2_chr2_241771822_241809287	241805559	CTCCCCCC others(2165): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTC AGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTC CCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCTGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0091 a0010c0012t0001g0091	1	314	0.0032	-2172	c.13 others(11): Show c.1394_*3565del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding				1273		chr2	TogoVar
CAND1_chr12_67264358_67324953	67276938	CATTCCAT others(2164): Show CATTCCATGTAGTTTGCAGTTTAACCAAAGTTAATCCTTTCTTCTGTTGT AAGATGAGCAGTTTATTCATCTGATGTGACAATGGCTGCAGGGTAACATT AAGACTCTGGACAAGGATATGTTAGCTGACTGTATTACCCAGTCTTGTGG TTTTCCTTTTACTTCTTTCCTGCTAGCTCATCCTTACCATCCCTATATCT AATCCATTTTGAAGAACTATTAATTTTAGTTTGTAAAATTCAAACCAACT AGTTCTCATTATTTGTAGTATGTTTTGTAACATTATCACAAACACTGAGT TAGCAAGTACTGAACCATTGCTTCTGAGGGAATTATGGAATTAGTTTCTC TGAGTCCTGAGTCACATTATTTTAATCAGTTGATGAGTTTGTAACCTCGT TTTATGAGTGTTTCTTTTAAAGTTGTCTTAATATATATTGCTGATTTATT AACATTGAATTCACAGCCAATAAAGAAGCTTATCTAACACATATGTTTTT TTCAGAAGGCACATTATAGCCTTCTTGCACTTAGGAATGCTAGACAGCAT TTCAGCACTGTGCTTGGAGGCCATATTAAACAACAAGAGCGCCAAGAAAA AGCACAAACATGTGAAAAACATGGGCTGAAATAGGCCAAGAAGAAGATGC TTGTTTACAACATGAGAGCTGGAGCTAGAAGGCAGAGTGTTGCTTTGTGC CACCACAGCTGGGAATGTATGTGTTGGATTACTCAAAATTTTCACCACTC GACACTCATCCAAATGACTGTGAAATAGGAAGCATTAATTTTGCTTTACA AATAAATGTTAATGAGTAGGTGAATTTGCAAATATGGAACCTGGGAATAA TGAGAATCAACTGTATGTCATTTTTTTTTCCATCTTCATTGATTGCCATA ACCTAAGTCAGGCCATCATAATTTCTAACTTAGTCATTCTCCTAACTAGT CTCCATTCAGTATGGCCAAATGAAGATTTGTTCTCTCCAAAGTATGGTCC ACAGTATAGCTGGAGTAATGTTTCTGAAATGTAAATCTGATCATTGCATT TATTCCCCATCTGTAACCCAGTTGTTTTTCAGTAGCTTCCCACTCTCTTA GAATAAAGGCTAAAATCCTGATATGGTCTACAAATCCTTTAAATTCCTGG CCCTTGCTTACCTGGCACTAACTTCCTCCTGCTTCACCGTAATTTTGCCT ACTCTTTATTTATTTTTGAGACAGAGTGTCACTCTTTTGCTCAGGCTGGG GTGCAGTGACGTGATCTTGACTCACTGCAACCTCCACTGCCCGGCTTCAA GCGACTGCCGCCCAGGTTCAAGCATTTCCCCTGCCTCAGCCTCCCAAATA GGTGGGATTACAGGCATGTACTACCATGCCTGGCTAATTTTGTATTTTTG GTAGAGACGGGGTTTCACCATGTTGTCCAGGCTGGTTTGGAACTCCTGAC CTCCACCTGCCTAGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAC CATGCCCAGCTCCTACTCTTCAGATCAGTCTTTCCTGACACAACCCGCAG TTCAGTCTAGGTCATGTTACTTTGTTTATATGATAGTGCTTTCTTGTTTT GGGATGAATCTCACTCTGTCACCTAGGCTGTAGTGCAGTGGCTCAATCTC GGCTCACTGCAACCTCTGTGTCCCAGGTTCAAGCGATTCTCCTGCCTTAG CCTCCCAAGTAGGTGAGATTACAGGTGTACACCACCACACCCAGCTAATT TTTGTAATTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGT CGAACTCCTGACCTCAGGAGATCTGCCTGCCTTGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACTGGCACCTGGCCCCATAGTGTTTTCTTGAT AACACTTTCCTTCATAGCATTTATCTTAGTTCTTAGTTCTACAGGTGCTT ACTCATACATGCAATTTAAAAAGTTAATATGCCTTTTACTAGACTGCAAT GTAAGCTCCAAGACAGCAAGAATTGTGTGTGCTTTGGTTAGCCCTTATAT CAGCAAAAACTAGTACAGTACCTGATATGTAGTAGGTTCTTATTACACAG TGTATGAGTATATAACGCCATTCCCATTTTGACCTCAGCCTATATTCCCA TCATCTTCCTATTAGGTTTCTG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0097 a0001c0001t0023g0097	1	328	0.0031	-2171	c.69- others(15): Show c.69-4971_69-2801del		CAND1	ENSG00000111530.13	transcript	ENST00000545606.6	protein_coding	1/14					chr12	TogoVar
RGPD3_chr2_106398406_106473413	106403070	ATTAATGA others(2163): Show ATTAATGACCTCTGCCCCTAACTGAACAAAGCCCTTCATCTAAGGCCACC CTTTGGTTGGCAGCCTTAGCCAGACATCTGCTTCTGGTCAAATCAATGTC TTGTCCACAGGGAGGCCCAGCGCTGTTTCTGGTTTTAGCTGGATGCAGGG TGTCAGACATGGCAGGTACTACGGTCTACCTGGCGGGTATCAAAGAGTTG GTCGACGTTCTCTCAACAACCTAATAGGGACCAACCATGGAAGGCCAGTA GTAAAGGAGTTTGAAGTTCCCTTTCAGAAACCAATTAACAACCCCAAAGA GACAGTGTGTAACATAAAAGAGCTGCCATAAAAATATACAGTTAAACATA TTTAATAGAAATATTAAAATAATCATTACACTTCCTCTCATTGCAGAAAC CATGAAAGAATATGCCTTTTGTAATCAATTTTTTATCATGCAAAAAAGTA TTTTGTTATGACATTTGTAAGTGGAGACTATATTTCAAAACAAGTTTATA CAGACTTCAAAAGGTCTCAAGTCAAAGAGAAAGTGAAATATATTTAAATA TGATTAGTTACATCGTATGCAGCTGGCATACTCATATTCACAGTTTATAA AGTAAAAAAACTAAACTCTTCATGTCGGCTCTGAAATAGATGCATTTTCA TTCATACATTCGCTAGTTAGGTCTGTTCTTCTAAGGAGGAAAGACGAGAT ATATGAGATATTTTTTAAAGAACAAACTCAACATATCAGCAGCAAATTTC AGTTAAACTAAATTGGAAACCAATGTTCTGTGTAACCAAAGTGCAAAGTC AGTTCCCCAGCTCAGAAAGAAAATTAAGAGTATAAACTGAAGGCTTAAGA GAACTTCAGAGAGCATACTATGTGATTAATACATAAATATTAAAAATTAT CCAATTTTTGATTTAAGAACAACACAGTTTGGATCTAGTCATTAAAACAT ATGCAGCGGTGTCAAAGGCAAGTAACACTACCACCTAAGGTTATTCAGAG GAACTGTGAAGATGTAGCACGGACCTCTAAGGTGTCTAAAATCCCTTCTG ATGGAAAGCTTATGGAACACTATCTGCCAAAAACACTGAAAGCACCACTT TTATATTTAGATTCAATGCTGAGTGATATAGTCACTGTTGGGATAGGTTT TTATTTGGGAAAATGGAGAGGATTCTCAAAACAGATTCATGGCTTGCATG CAGTGACACCCTATCAAGAGCCTGGAAAGACACCATGAAATCACCTCAAC TCAAGTGGTGGGCCCACCTATTCATAGTCAGTGTTACACTAGCCAGCTCT AGGGCTCTGACAACATAATGAGTTTTGAGATAGTATACTTTAAAGAAAAA AAGAAGAGTTTATTTTAAAGCAAATAACTAAACTGTATTTTAACTTAGCA CAATTAACTGCAGCATATTTACTTCATAGCCCCTTAACATGTCACTTTTA CCAACAAAGCTTTTTCCTTCATATTCTAATCACAAAAATTTCTCAACAAT TTATAACAATCTGTAAATCTGACCTTGCAATAAATAGTCATAAAATGTTA TTTTTATTACTATTATTATTTTTAGAGACAAGGTCTCGCTCTGTTCCCCG AGCTGGAGTGCAGTGATACAATCACAGCTCACTAGCCTCAAACGATTCTC CAGCCTCAGCCTCCCCAAGTAGTGGGATTTCAGGCATGAATCACCACACC TGGCCTTGAAACATTATTTTTAAAGCCTAAATTCCAGTTGGTATGGTACC AAAATTTAGTTTAACTTCAAAATTCACAGTACTGCCGAGAAATGGGCGGG TCCTGAGGTTCCAGAGAAGTGGGGAGTGAATTCATTCCTGGTGGTTTTAT TCTGGCAGCATGCATGGGAGATCACATGAGTTAGAGGGCTGTGGCCTGGT ATCAACACTTCAAGCTGTTGTACTTTTACTTCAAGTTGAAACTTTTAAAA TACATCTGTCATATAGATGTACAAATATATGTAAATGCAAACATATACAC ACTTTTTGACAAAAGAATGATGGTAATACACATGAACCATTTTTGTAAAT AGATTTTATTTGGTTAATAAAAACATTCCTTCCATCAACCTATCGAAGTC CAAACCAACTACGAAGATAGGATGCCCATCCAGAAGAACGGGAAGCATTT TATTCCTCACCTTTGGAAAGT	A A	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	NA18980.hp1 NA18980.hp1	a0000 a0000	a0000c0037 a0000c0037	a0000c0037t0035 a0000c0037t0035	a0000c0037t0035g0053 a0000c0037t0035g0053	1	382	0.0026	-2170	c.526 others(13): Show c.5267-11_*2148del		RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	23/23					chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805291	TCCCCCCT others(2159): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGAC CTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGC CAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0077	1	314	0.0032	-2166	c.11 others(11): Show c.1126_*3291del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding				1005		chr2	TogoVar
ALDOA_chr16_30060760_30075414	30072078	GGAGGCAG others(2158): Show GGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTAATGGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTAGGCAACAGAGCCAGACTCCGTCCC AAAAAATAAAAATAAAACTTGGTCCTTCCCTTTTCTGCTTATTTTGCTTT TATTGCTTACATCTAAAACAAAACCAATCACTATTATCCCTCTAAACTTT GGATTAATTTGTCTGCCTAGCTCATTCAACTCTGGGAAACAAACACTGAA GTAAAGCAAATAAAAATTGAAGGTCGGTAGAAGATGGCAAAGGGGGCATT CCAAAAGGGAACATGTGCAGAGTCTCAGAGACTGGAGAGATTGTTTAAAG ATCAATAGTTTCAGCCGGGCACGGTGGCTCACAACTGTAATCCTAGCACT TTGGGAGGCTAAGTCCGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCC TAGCCAATGTGGTGAAACCCCCGTCTCCACTAATAATACAAAAATTAGCT GGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAGGCA AGAAGAGTCGCTTGAATCTAGGAGGTGGAGGTTGCGCTGAGCCAAGATTG TGCCACCACACTCCATCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAATAAAAAAGACTAGAGAAGCAGAGAACGTCATATACCAGTTTGG GGGATTTGGACTTTTATTTATTTATTTATTTTGAGACGAAGTCTCGCTCT GTAGCCCAGGCCGGAGGGCAGTGGCACGATCTGGGCTCACTGCAACCTCT GCCTCCCGGGTTCAAACCGATTATCCTGCCTCAGCCTCTCCAGAGTAGCT GGGATTACAGGTGCACGCTACTGCACCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACCCCCAATC TCAGGTAATCCGCCTGCCTTGGCCTCCCAAAGTGCTAAGATTACAGGCGT GAGCCACCATGCCTGGCCTGGACCTCTTAATTTTATGATAATCTGAGTTC CCGAAAGAGTAATTGATAGAAAAAAAAACTACACCTGAGGACACAACTTT CTGAGTTCAAATTTCTTTTTTTTTGAGACAGCATTTCACTCTGTTGTCCA AGCTGGAGTGCGGTGTCACAATTTCGGCTCACTGCAACCCCCGCCTCCTG GGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGACTACAAG CGCATCACCAAACCTAATTATTATTATTTTTTATTTTTTAGGATAGACAG GGTTTCACCATGTTGGTCAGGCTGATCTTGAATTCCTGACCTCAGGTGAT CCACCTGCCTCGGCTGCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCA CACACAGCCAGGTTCAAATTTCTTTCTTTTTTTTTTTTGAGACAGAGTCT CGCTCTGTTGCCCAGGCTGGAGTCCAGTGACGCAATCTTGGCTCGCTGCA CGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTG ATCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCG TCAGCCACCGCGCCCAGCCCAAGTTTCTTATTCTTTTTGTTTATAGACTG GGTCTCACTCTGTTGCCCAGCCTGGTCTTGAACTCCTGGGCTTAAGTGAT TCGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCTTGAGCCACCACACC TAGCCCCGGATTCAAATTTCAGTGTAACATCCCCAATCCACTGTTATACA AGCAATGAACAAGTTATTTAACCCCTCTGAGCCAGTTTCCTCCTCTTAAA AAAGGCACAAAACTTAATAGAAAGCAACTAAGAAGCCAGGCACGGTGGCT CAAGCTGGTAATCCCAGCACTTTCCGAGGCCGAGGAGAGTGGATCACCTG AGGTCAGGAGTTCGAGACCAGCCTGACCAAAATGGTGAAACCCCGTCTCT ATTAAAAATGCAAAAATTAGCTGGGCGTGGTGACGGGTGCTTGTAATCCC AGCTACTCAGGTGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02055.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	2	370	0.0054	-2165	c.18 others(11): Show c.1867_*4031del		ALDOA	ENSG00000149925.22	transcript	ENST00000642816.3	protein_coding				1665		chr16	TogoVar
LOC112694756_chr16_30048151_30075414	30072078	GGAGGCAG others(2158): Show GGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTAATGGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTAGGCAACAGAGCCAGACTCCGTCCC AAAAAATAAAAATAAAACTTGGTCCTTCCCTTTTCTGCTTATTTTGCTTT TATTGCTTACATCTAAAACAAAACCAATCACTATTATCCCTCTAAACTTT GGATTAATTTGTCTGCCTAGCTCATTCAACTCTGGGAAACAAACACTGAA GTAAAGCAAATAAAAATTGAAGGTCGGTAGAAGATGGCAAAGGGGGCATT CCAAAAGGGAACATGTGCAGAGTCTCAGAGACTGGAGAGATTGTTTAAAG ATCAATAGTTTCAGCCGGGCACGGTGGCTCACAACTGTAATCCTAGCACT TTGGGAGGCTAAGTCCGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCC TAGCCAATGTGGTGAAACCCCCGTCTCCACTAATAATACAAAAATTAGCT GGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAGGCA AGAAGAGTCGCTTGAATCTAGGAGGTGGAGGTTGCGCTGAGCCAAGATTG TGCCACCACACTCCATCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAATAAAAAAGACTAGAGAAGCAGAGAACGTCATATACCAGTTTGG GGGATTTGGACTTTTATTTATTTATTTATTTTGAGACGAAGTCTCGCTCT GTAGCCCAGGCCGGAGGGCAGTGGCACGATCTGGGCTCACTGCAACCTCT GCCTCCCGGGTTCAAACCGATTATCCTGCCTCAGCCTCTCCAGAGTAGCT GGGATTACAGGTGCACGCTACTGCACCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACCCCCAATC TCAGGTAATCCGCCTGCCTTGGCCTCCCAAAGTGCTAAGATTACAGGCGT GAGCCACCATGCCTGGCCTGGACCTCTTAATTTTATGATAATCTGAGTTC CCGAAAGAGTAATTGATAGAAAAAAAAACTACACCTGAGGACACAACTTT CTGAGTTCAAATTTCTTTTTTTTTGAGACAGCATTTCACTCTGTTGTCCA AGCTGGAGTGCGGTGTCACAATTTCGGCTCACTGCAACCCCCGCCTCCTG GGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGACTACAAG CGCATCACCAAACCTAATTATTATTATTTTTTATTTTTTAGGATAGACAG GGTTTCACCATGTTGGTCAGGCTGATCTTGAATTCCTGACCTCAGGTGAT CCACCTGCCTCGGCTGCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCA CACACAGCCAGGTTCAAATTTCTTTCTTTTTTTTTTTTGAGACAGAGTCT CGCTCTGTTGCCCAGGCTGGAGTCCAGTGACGCAATCTTGGCTCGCTGCA CGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTG ATCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCG TCAGCCACCGCGCCCAGCCCAAGTTTCTTATTCTTTTTGTTTATAGACTG GGTCTCACTCTGTTGCCCAGCCTGGTCTTGAACTCCTGGGCTTAAGTGAT TCGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCTTGAGCCACCACACC TAGCCCCGGATTCAAATTTCAGTGTAACATCCCCAATCCACTGTTATACA AGCAATGAACAAGTTATTTAACCCCTCTGAGCCAGTTTCCTCCTCTTAAA AAAGGCACAAAACTTAATAGAAAGCAACTAAGAAGCCAGGCACGGTGGCT CAAGCTGGTAATCCCAGCACTTTCCGAGGCCGAGGAGAGTGGATCACCTG AGGTCAGGAGTTCGAGACCAGCCTGACCAAAATGGTGAAACCCCGTCTCT ATTAAAAATGCAAAAATTAGCTGGGCGTGGTGACGGGTGCTTGTAATCCC AGCTACTCAGGTGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02486.hp2 HG02055.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0122 a0001c0001t0001g0065 a0001c0001t0001g0122	2	332	0.0060	-2165	c.34 others(11): Show c.3471_*5635del		LOC112694756	ENSG00000285043.3	transcript	ENST00000338110.11	protein_coding				1665		chr16	TogoVar
PPP4C_chr16_30070994_30090376	30072078	GGAGGCAG others(2158): Show GGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTAATGGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTAGGCAACAGAGCCAGACTCCGTCCC AAAAAATAAAAATAAAACTTGGTCCTTCCCTTTTCTGCTTATTTTGCTTT TATTGCTTACATCTAAAACAAAACCAATCACTATTATCCCTCTAAACTTT GGATTAATTTGTCTGCCTAGCTCATTCAACTCTGGGAAACAAACACTGAA GTAAAGCAAATAAAAATTGAAGGTCGGTAGAAGATGGCAAAGGGGGCATT CCAAAAGGGAACATGTGCAGAGTCTCAGAGACTGGAGAGATTGTTTAAAG ATCAATAGTTTCAGCCGGGCACGGTGGCTCACAACTGTAATCCTAGCACT TTGGGAGGCTAAGTCCGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCC TAGCCAATGTGGTGAAACCCCCGTCTCCACTAATAATACAAAAATTAGCT GGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAGGCA AGAAGAGTCGCTTGAATCTAGGAGGTGGAGGTTGCGCTGAGCCAAGATTG TGCCACCACACTCCATCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAATAAAAAAGACTAGAGAAGCAGAGAACGTCATATACCAGTTTGG GGGATTTGGACTTTTATTTATTTATTTATTTTGAGACGAAGTCTCGCTCT GTAGCCCAGGCCGGAGGGCAGTGGCACGATCTGGGCTCACTGCAACCTCT GCCTCCCGGGTTCAAACCGATTATCCTGCCTCAGCCTCTCCAGAGTAGCT GGGATTACAGGTGCACGCTACTGCACCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACCCCCAATC TCAGGTAATCCGCCTGCCTTGGCCTCCCAAAGTGCTAAGATTACAGGCGT GAGCCACCATGCCTGGCCTGGACCTCTTAATTTTATGATAATCTGAGTTC CCGAAAGAGTAATTGATAGAAAAAAAAACTACACCTGAGGACACAACTTT CTGAGTTCAAATTTCTTTTTTTTTGAGACAGCATTTCACTCTGTTGTCCA AGCTGGAGTGCGGTGTCACAATTTCGGCTCACTGCAACCCCCGCCTCCTG GGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGACTACAAG CGCATCACCAAACCTAATTATTATTATTTTTTATTTTTTAGGATAGACAG GGTTTCACCATGTTGGTCAGGCTGATCTTGAATTCCTGACCTCAGGTGAT CCACCTGCCTCGGCTGCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCA CACACAGCCAGGTTCAAATTTCTTTCTTTTTTTTTTTTGAGACAGAGTCT CGCTCTGTTGCCCAGGCTGGAGTCCAGTGACGCAATCTTGGCTCGCTGCA CGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTG ATCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCG TCAGCCACCGCGCCCAGCCCAAGTTTCTTATTCTTTTTGTTTATAGACTG GGTCTCACTCTGTTGCCCAGCCTGGTCTTGAACTCCTGGGCTTAAGTGAT TCGCCTCGGCCTCCCAAAGTGCTGGGATTACATGCTTGAGCCACCACACC TAGCCCCGGATTCAAATTTCAGTGTAACATCCCCAATCCACTGTTATACA AGCAATGAACAAGTTATTTAACCCCTCTGAGCCAGTTTCCTCCTCTTAAA AAAGGCACAAAACTTAATAGAAAGCAACTAAGAAGCCAGGCACGGTGGCT CAAGCTGGTAATCCCAGCACTTTCCGAGGCCGAGGAGAGTGGATCACCTG AGGTCAGGAGTTCGAGACCAGCCTGACCAAAATGGTGAAACCCCGTCTCT ATTAAAAATGCAAAAATTAGCTGGGCGTGGTGACGGGTGCTTGTAATCCC AGCTACTCAGGTGGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02486.hp2 HG02055.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0086 a0001c0001t0002g0077 a0001c0001t0002g0086	2	368	0.0054	-2165	c.-40 others(11): Show c.-4079_-1915del		PPP4C	ENSG00000149923.14	transcript	ENST00000279387.12	protein_coding				3915		chr16	TogoVar
WDR20_chr14_102134897_102215527	102171220	AATTACAG others(2157): Show AATTACAGGTGCAAGCCACTGCGCCTGGCCTCTCTCTTTTTTTTTTTTTT TTTTTTTTTTAGGAGACAGGGTCTTGCTCTGTTACCCAAGCTGGAGTACA GTAGTATAATCATAGCTCATTGTGACCTCAAGCTCTTTGGCTCAAGGGAT TCTCCCACCTCAGTCTGGTGAGTAGCTGGGACTACAGGCATGAGCCACAC TGTTGGCCTCTTCTTGTACCTCTGAGGTTTCATTTCTTACATATGATTTC TTTTTGATACTGCTGAGATTTATTCTGGTATAAATTGTGAGGTGAGATTT CACCCCATGTTTTAAAAAACAATTTTAGGATTTCTTGATCTTTTATGTCT TGTCTGGAGAGTAATTTGTCAGCTGTTTTCTGCTAAACTGTGAGTGGTGT AAGACCAGTTAGCTATGCCCTGTGTACTTTTCAGTTTAAGACATAGTTGC CTGTATCTTCCCAAAGATCTTATCTTTCGTTGACTTAAAAATAACGGTGG AAATACAGCCTATTGGGGAGTATTGTGTTAAAACAAATTTTATAGAATTT TCAGTTGGTAAAGATTGATAAGATTAGTAATAATAGGTAATTATGCATTA TATTTAAGGAATATGTTTAGTACATTATATAATGCTAACGAAATAGGGAT TTTTCTGTTTTTTATTTTTGTTTTTTTGTTTGTTTTCCTTTTTTTTTTTT AATTTTTATTTTTATTGATCATTCTTGGGTGTTTCTCACAGAGAGGGATT TGGCAGGGTCATATGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAA GGTCTCTGGTTTTCCTAGGCAGAGGACCCTGAGGCCTTCCGCAGTGTTTG TGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCAT GCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCACCCTTAAT CCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTG GGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTT AGTACAGAACAAAATGAAAAGTCTCCCATGTCTGCTTCTTTCCACACAGA CACAGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCGCTTTC TATTCCACAAAACCACCATTGTCATCATGGCCCGTTCTCAATGAGCTGTT GGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCTGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCC ACCTCCCTCCCGGACGGGGCGGCTGCCGGGCGGAGACGCTCCTCACTTCC CAGACGGGGTGGCTGCTGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGC GGCTGCCGGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGTTGCCAGG CGGAGGGTCTCCTCCTTTCTCAGATGGGGCGGCTGGGCAGCGACGCTCCT CACCTCCCAGACGGGGTCGCGACTGGGCAGAGGCGCTCCTCACATCCCAG ACGGGGCGGCGGGGCAAAGGCACTCCCCACATCTCAGACGATGGGCGGCC GGGCAGAGACGCTCCTCACTTCCTAGATGGGATGGCAGCCGGGAAGAGGC GCTCCTCACTTCCTAGATGGGATGGCCTGTTTTTTATTTTTATTTTTTAT TTTTATTTTTTTGGAGGCAGCCTTATTCTGTCGCGCAGGCTGGAGTGCAG TGGTACCATCTCAGCTCACTGCAACCTTCACCTCCTGGGTTCAAGTGATT CTTCTGCCTCAGCCTCACGAGCAGTTGGAACTACAGGCTTGTGCCACCAT GCCTGGCCAGTTTTTTGTATTTTTAGTAGAGATGAGGTCTCACCATGTTG CCCAGGCTGGTCTCAAACTCCTGAGCTCAGACAATCCACCCACCTTGGCC TCCCAAAGTGCTGGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	264	0.0038	-2164	c.250 others(19): Show c.250-23707_250-21544del		WDR20	ENSG00000140153.18	transcript	ENST00000342702.8	protein_coding	1/2				INFO_REALIGN_3_PRIME	chr14	TogoVar
PCGF3_chr4_700832_775089	744930	GGGGGTCG others(2156): Show GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAG TGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCC	G G	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0307 a0001c0003t0005g0307	1	366	0.0027	-2163	c.462 others(16): Show c.462+267_462+2429del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10				INFO_REALIGN_3_PRIME	chr4	TogoVar
ZNF385D_chr3_21407218_21756210	21682212	GTTTAGCT others(2155): 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 TCTCCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp2 HG02965.hp2 HG02615.hp1 HG02895.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0045 a0001c0003t0003 a0001c0003t0012 a0001c0001t0045 a0001c0003t0003 a0001c0003t0012	a0001c0001t0045g0006 a0001c0003t0003g0050 a0001c0003t0012g0017 a0001c0001t0045g0006 a0001c0003t0003g0050 a0001c0003t0012g0017	3	256	0.0117	-2162	c.23- others(17): Show c.23-19346_23-17185del		ZNF385D	ENSG00000151789.13	transcript	ENST00000281523.8	protein_coding	1/7					chr3	TogoVar
P2RX5_chr17_3668227_3701155	3685658	CCCAGCCT others(2153): Show CCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCA GGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAA CACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCC CAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAA CGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGC CCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACG CACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAG CCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGT CCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCC CAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCAC AGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCT CAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCT CCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGC GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCC CCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAG CGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCA GAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCC GCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGG ACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGC ACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAA CAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCC CCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACC CTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGC CCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAG GAGAACACACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCGCCCCC CGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTC CCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCC CAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAG AACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGC CCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAAC ACACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCA GCCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACG TCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGA CCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	362	0.0028	-2160	c.981 others(16): Show c.981+194_981+2353del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11					chr17	TogoVar
PRAMEF5_chr1_13249198_13268435	13254878	CCCAAAGT others(2153): Show CCCAAAGTGCTGGGATTACAGCTGTGAGTCACTGGTGCTTGGCCTCTACT TTTTTTTATTTTAATTAGCCGAGCATGGTGACATGCATCTGTAGTCCCAG CTATTTGGGTGGCTGGTGTGGGAGAATCACTTGAGCCCAGAAGATTGAGG CTGCAGTGAGCCATGCTCACACCACTGCTGTACTCCAGCCTGGGCAAAAG AGAGAGACCCTGTCCAAAAAACAAAAACAATATCTTAACCAAAAAGGATC TATGACCTTAATTTTAAACCAATCACGTCCTCACTGTAATTCTTCCACTC GAATGGAGACATGGGTGTGGGGGTGCATGCCTGTAATCCCAGCTACGTGG AAGGCTGAAGCATGAGAATTGCTTGAATCTCAGAGGTGGAGGTTACAGTG AGCTGAGATGGCGCCGCTGCACTCCAGCCTGGGCGACAAAGTGAGACTCA GCTTCCCCCACACCAAAAAAAATTAGATTATACCACCCAGGTGATCATTG GATACATGAAGATTTCTATTGTGTGTTCTTGGGGACTGTCAACTCTGTCT TTGAAAACTGTTTTAACTCTGAAATATTTTGATAAATTTGATGTGGCCGA GGATCCCTCAACAAAGATACTTTCAAGTTTTTTCTTTCTGTCTAATATCA GGAAGAGATTCAACCCTTCCCTATCTCACACTCAGGACTGTGAAGGACAC ATATTAATAAAACCCCATTTTGTTTGTGAAGGGAATCAGTGAATGAGTCC TGGGCTTCCACCCCATCCCTAAATCTTTCACTTTGATGGGTGAATATCTA ATTCCATCAGTAAATCTGGAAGAAAGCCAAAAATCCAATCAGGATTAACT GGGTAAATTCGAATCAAATCTAGCTCTCTCTCTCTCCTTTTTCTTTTTCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAATCTAGCCTATTTCCCAGG CTGGAGTTCAGTGGTGTATTGTCAGCTCACTGCAACCTCTGCCTCCTGGG TTCAAGCGATCTTCCTGTCTCAGCCTCCCTAGTAGCTTGGACTATAGGCG CAGACCACCGCAACTGGCTAATTTTTGTAATTTTAGTAGAGGTAGGGTTT TACCATGTTGGCCAGGCTTGTCTCAAACTCCTGACCTCAGATAATCCACC TACCTCTGCGTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTTCGTCT GGCCTTGAATGAATGTATTCTTGACTTCTACCCTATCCCTAACACTGTCG ATTTCTTGCTTCATGAAGTGAATATAGATATGTGATATGAATGGACATCT GATTCAATCCGGTAATCTGGGGAGAGCCAAAAACCCAATCAGGATTAACT GGGTGGAGCTTCACAAATGCAATCAGATATCATTTTTTGATTGGAAGGTA GCAGCGGATATGTGCAGGGGCGTGGGTGGGAGTTGTGATTAGAAAGGTCA ATAAAAGCTTCTAAAGACCCACAGGAGAGACCCAAAGTCTTCAAGCCTAG AGTTCCTGCTTGGTTCTTCCTGAGGACTGAGCACCTTCTAGACTACATCC AGATCTGGTAAGTCACTAATTTCTGTAAGGACACTCCCATCTGACCTACA GTCAGTCGGTCTGGGGTGGTGACAGTACAGCCTACGATGGCACAGAGCTA TATCCTGTCCTTTTTTTTTTTCATATGAACAATTTGAAGCTTTGAATGTT TTCCTCTAAATGCAGTTCTGTCTTTATTTCAAAAAAGTTGATTGTGCTTT GGTTGATGCCATTTTAAAATTCTTGAAGGGAGCAATAACTCATGCCTTTA ACCCCAACACTTTGGGAGGCCAAAGTGGGAGGATCATTTCAGCCCAGGGG TTTGAGACCAACCTGGGCAACATGACAAAAGCCCTCCTCTACACAACGTT TTTTTTTTTTGAGGGTGGGGATGGAGTCTCACTGTGTTGCCCAGACTGGA GTGCAGTGGCACGATCTCAAATCACTGCAACCTTTACCTCCCGGGTTCAA GCAATTCTCATGCCTCAGTCTCCATCCTCAGAAGCTGGTGTCACAGACAT CTGAAACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTC ACCATGCTGGCCAGGTTGGTCTCGAACACCTGACCTCAAGTGATCCACCT GCCTTGGCCTT	C C	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02132.hp2 HG01517.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0072 a0002c0002t0002g0073	2	142	0.0141	-2160	c.-23 others(16): Show c.-23+660_-22-2153del		PRAMEF5	ENSG00000270601.5	transcript	ENST00000622421.3	protein_coding	1/3				INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	245974625	GGCCCAGG others(2153): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCTGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGT CTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCTGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGC CATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCATCTCTAGCC TAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGT CTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCT CTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCT AGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAA GCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGC CATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0142 a0002c0005t0001g0142	1	150	0.0067	-2160	c.532 others(19): Show c.532-46848_532-44689del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11					chr1	TogoVar
P2RX5_chr17_3668227_3701155	3685659	CCAGCCTG others(2152): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAAC ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTC CCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCC AGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACA GCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTC AGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCC CTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTC CCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCG GGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGA ACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGC CCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGAC CCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACAC AGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCT CAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCT CCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGC GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCA CAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAAC AGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCC TCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCC CCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGG AGAACACACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCC GCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCC CAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCC AGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGA ACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCC CAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAA CGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGG GACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACA CACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAG CCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACGT CCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGAC CCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	362	0.0028	-2159	c.981 others(16): Show c.981+194_981+2352del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11					chr17	TogoVar
ADARB2_chr10_1172313_1742525	1237992	TCCCCCCC others(2151): Show TCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCT CTCCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTAC TCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTC CCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCC CCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCC CCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTC TGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTG TCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCC TCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGT TTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTT ACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCGATACT CCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCC TCCCGGAGTTTACTCCCCTCTCCCTCTCCCTCCCGGTGTTTACTCCCCCC TGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTG CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGT GTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGCTTAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTCACTC CCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCC CTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0062 a0001c0001t0052g0062	1	106	0.0094	-2158	c.136 others(19): Show c.1361+1981_1361+4138del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9					chr10	TogoVar
PRAMEF26_chr1_13143907_13161009	13155217	AAAAAAAA others(2151): Show AAAAAAAAAAAAAAGTAGAGGCCAAGCACCAGTGGCTCATGGCTCTAATC CCAGCATTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGCGTTT GAGACCAAACTGGCCAGCATGGTGAAACCCCCGCCCCTACTAAAAATACA AAAATTAGCCAGGCATGGTTTCAGATGACTGTTATACCAGCTTCTCTGTA TGGAGACTGATGCATGAGAATTGCTTGAACCTGGGAGGTAAAGGTTACAG TGAGTTGAGATCGTGCCACTGCACTCCAGTCTGGGCAACACAGCGAGACT CCATCCCCATCCTCAAAAAAAAAAAAACGTTGTGTAGAGGAGGGTTTTTG TCATGTTGCCCAGGTTGGTATCAAACCCCTGGGCTGAAATGATCCTCCCA CTTTGGCCTCCCAAAGTGTTGGGGTTAAAGGCATGAGTCACTGCTCCCTT CAAGAATTTTGAAATGACCTAAACCAAAGCACAATCAACTTTTTTGAAAT AAAGACAGAACTCTATTTAGAGGAAAACATTCAAAGCTTCAAATTGTTCA TATGAAAAAAAAAAGGACAGGATATAGCTCTGTGCCATCGTAGGCTGCAC TGTCACCATCCCAGACCAGCTGACTGTAGGTCAGATGGGAGTGTCCTTAC AGAAATTAATGACTTACCAGATCTGGATGTAGTTTAGAAGGTGCTCAGAC CTCAGGAAGAACCAGGCAGGAACTCCAGGCTTGAAGACTTTGGGTCTCTC CTGTGGGTCTTTAGAAGCTTTTATTGACGTTTCTAGTCACAACTCCCACC CACGCCCCTCCACGTATCCGCTGCTAGCTTCCAATCAAAAAGTGATATCT GATTGCATTTCTGAAGCTCCAGCCAGTTAATCCTGATTGGGTTTTTGGCT CTCCCCAGATTAATGGATTGAATCAGATGTCCATTCATATCACATATCTA TATTCACTTCACGAAGCAAGAAATTGACAGTGTTAGGGATAGGGTAGAAG TCAAGAATACATTCATTCAAGGCCAGGTGAGGTGGCTCACTCCTGTAATC CCAGCACTTTGGGAGGCAGAGGCAGGTGGATTATCTGAGGTCAGGAGTTT GAGAAAAGCCTGGCCGACATGGTAAAACCCTACCTCTACCAAAATTACAA AAATTAGCCAGGTGCGGTGGTCTGTGCCTATAGTCCAAGCTACCAGGGAG GTTGAGGCAGGAGGATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAAT TGACAATACACCACTGCACTCCAGCCTGGGAAATAGGCAAGATTCAAAAA AAAAAAAAAAAAAAAAAGAAAAAAGAGAGAGAGAGAACTACATTTGTACA TTTGATTTGACTTCTTAAACTCTACCCAGTTAATCCTGATTGGATTTTTT GCTTTCTTCCAGATTTACTGATTGAGTTAGATATTCATCCATCGAAGTGA AAGAATTAGGGATAGGGTGAAAGTCCAGGACTCATTCAGTGATTCACTCC ATAAACATGGAGTTTTACTAATATGTGTCCTTCAAAGTCCTGAGTGTGAG AGAGGGAAGGGTTGAATCTCTTCCTGACATTAGAGAAAAGAAAAAACTTG AAAGTACCTTTGTTGAGGGATCCTTGGCCACATCAAATTTATCGAAATAT TTCAGAGTTAAAACGTTTTACAAAGACAGAGATGACAGTCCCCAAGAAAA CACAATAGAAATCTTCATGTATCCAGTGATCACCTGGGTGGTATAATCTA ATTTTTTTGGTGTGGGGGAAGCTGAGTCTAACTTTTTGCCCCATGCTGGA GTGCAGCGGCGCCATCTCAGCTCATTGTAACCTCCGCCTCTGAGATTCAA GCAATTCTCATGCTTCAGGCTTCCACGTAGCTGGGATTACAGGCATGCAC CCCACACCCATGTCTCCATTCAGGTGGAAGAATTACCGAGAGGATGTGAT TGGTTTAAAATTAAGGTCGAAGATCCTTTTTTGTTAAGATTTTGTTTTTG TTTTTTGGACAGGGTCTCTCTCTTTTGCCCAGGCTGGAGTACAGCAGTGG TGTGAGCATGGCTCACTGCAGCCTCAATCTTCTGGGCTAAAGTGATTCTC CCACACCAGTCACCCAAATAGCTGGGACTACAGATGCATGCCACCATGCC CGGCTAATT	A A	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0035 a0001c0001t0017g0035	1	229	0.0044	-2158	c.-15 others(13): Show c.-1508_-17+666del		PRAMEF26	ENSG00000280267.7	transcript	ENST00000624207.2	protein_coding	1/4					chr1	TogoVar
FAM25A_chr10_87015294_87029730	87026070	CTGTCTTG others(2150): Show CTGTCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCAACCGTGCC CAGCCCAGAATATTTAGCGACTGATGTCAGGCCTAAGTGTTGATAGTGGG TATTAGTGGGCAAGATGCCTGGCCTTCTCTCTTTCTTCTCATGAGCAAGT CAGTATCATAGAGGTTAAACATATCTTTAAGTAGCATTTAACTTAACATT TTTTTAATTAAAAAAAAGAGAAGTAATTTGTAAAAATATTGCATCCCCTA TTTCTCTTGCTGGAAGCTATTTGTTCTTAGCAGAAATGAGAAGAAAAGGT GTTTTGCTTAAAAAATAAGTGAGCTGCTCACCCTTTTTCTGGATCTCATC TAGAAGTGGCCTCACAGTTTGTGAACAGCCCAGGAATAGCCAATGTCTTA GCTTTGGAATGTTTGCCACTTTCCAGCTACAGTGGACCTTGTATCCTGGT TTGGTTCCTGATGACTTTCAAATTCTCCTGATCCAAACGCAAGCTCAGAG GCATCAGCACATTGTTGGTGGCAGTACAGACTGAAACACCCTTTTTGGAT GGCGGTTCCTCTCACAGGACTTTATTCGCCAGGTGTGCACAGGCACACAC AGGTGCCCAAAGGATAAACACACAGATCTACTGTAGCATATTTGTATTAC TGAGAGATTAGAAACATCCTAAAATGTTAACCAAATCACTTGGATGAAAA GTTTTGCTCTGCTTATTAGGTTTGGCATACAATATGGAGGTGACATCTAT TACTTCCAGTGTATTATAGAGTTTAGCTTGAAAAATGAGACCTGTACCTA GATGGGCACCAAAAGGGACTGGTTAACAAATATTGCATATACAGGGGTAT GGGGCGGCTCCAGGGCCAGGGATGGGACGGCCGCAGTTGCGGCAGCTCCA GGACGAGCAAGTGGATCCCGGGAAGCGCTGTGAGCTCCCGAGCCAGCCGG GAGGACGCTTACTACAGCTGCTCAGAAGCACCGCTGGAAGCTCAGATGTG AGCGCCCCAGCCAGAAGCCTAGAGGGGTACAGGGAAGCTACCGAGAAGCC CCTCCTGATGCCCCAGGGAGCAAGCCAACTCCTTCCAGGCTCCAGGAACA CCACAAAGCAATATGAAACCTGTTCATGAGAGGAGTCAGGAATGCCTTCC ACCAAAGAAACGAGACCTCCCCACAACCAGCTGCTCCACTAACCACATAC CCTCCAGTGATGCCTCTGAATGGTTCCCAGGGGTTGTGGTGGCCGGGCAG AGCCAGGCAGGAGCCAGAGTCAGCCTGGGGGTGATGGAGCTGTGGCCATC ACCGGTCTGACAGTGGACCAGTATGGCATGCTGTATAAGGGGGCTGTGCC ACCTGCCACCTTCTCACCAACTGGACTCCCATCTGTGTGAATATGAGCCC CTTGCCCCTGGAAAAAAATATTGCACGTACAGTTGATTAAATGGAATGCT CCATGGCTACTAGGAAGGATGAAAATGGGTTGGGCATGGTGGCTCACGCC TGTAATCCCAGCACTTTGGTAGGCCGAGGTAGGCAGATAACCTGAGGTCG GGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATGTCTTCTAAA AATACAAAATTAGCCGAGCGTGGTGGCTCATGCCTGTAATCCCAGCTACT CAGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGCGGATGTTGCA GTGAGCCGGGATCGTGACATAACACTCTAGCCTGGGCAACAAGTGCAAAA CTCCATCTCAAAAAAAAAAGAATGATGAAAATGTCTGGGCATAGTGCCTC ACACCTGTAATCCCAGCACTTTGGGAACTGAGATGGGAGGATTGCTTGAG TCCAGGAGTTCAAAAACATAATGAGACTTGTTTCTCCAAAAAAAAAAAAA AAAAGTTATTTTATTATTTATTTATTTTTGAGTCAGGGTCTTGCTCTGTC ACCCAGGCTGGATTTCAGTGGCATGATTTCGACTCACTGCACCCTCCACC TCTTGGGCCCAAGTGATTCTCCTGCCTCAGCCTCTCGAGTAACTGGGATT ACAGGCACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAC GGAGTTTTACCATGTTGGCCAGGATGGTCTCAAACTCCTGACCCCAAGTG ATCTGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	-2157	c.13 others(11): Show c.1397_*3553del		FAM25A	ENSG00000188100.9	transcript	ENST00000343959.5	protein_coding				1341		chr10	TogoVar
CCDC200_chr17_43216420_43233623	43231467	CCGAGGGG others(2149): Show CCGAGGGGACGAGGGGCCCATGCCCAGTCAGGGAAGCCGAAGGCCTGGAG GGGCTTCCGGGAGCAGGGGCTGGAGTTCCTCTGCCAGGCAGGAGGCTGGC ACCAGACACCCGGCAGAGGGAGGCGGCGAGGGCCCAGCAAGGATTCTCCC CAGCCCCTGTGCCTGCGTCTCCTGCGGCTTCTGTGCGCGGACCGTGTCCT GTGCTGTGTAGGGAATGCTGCCTCTCTGCTCGGGACGTGGATTCCTTTCC CCTCCTCCTCGCCTGGCTACTTCTGACGCAGGTCGTCAGGACTCCGCTTG GGTGTCACCCGTGCAGGAAGCCTCCCTTAGTCAAGGGCCCTCGGCACCCG CCCCATATGTGACTAGCAGCCCTCCTGTGTATTTCATCGCGTCCCCGTTG TTTATATCAGCTATTCCACTCACCACCCTTCTGGGCAACCCTTTATCTCC CGCTCTGAAATCCCATCGCTGAGGGCTGGGACCCCTCCTCAGTGCTTATC CCTGTTTCCCCGCGCGAGTCTGGCGCCTGGCGTGTGGAAGGCGCTCAGTA AACGTTTGTGGAGCGAAGAAACGACGCAAAGGTGATGAGCACGACGCAGT TAGGAGGCTATTGGCCCGGCGCGGGGGAAAAGGGGGAAGGTCGGGCTCGG GGTGGCAGGACCCCAGAGGGCAGGGGTGACTGCCGGGGTGCTCTTGGGGC AAGGTGGGCGTCAAGGCCCCCAGCAAGGTTGGGATAAAGTTTCTCTCCGA GGCACAGACTGCCGCCTGCGGGCTCAGCATTTACCTCTCCCTTCCTCCTT CCTAACGCAACTTCAGCGGAGGGCTGAGGGCTCTACTGCGCATTACCTGG AAAACTTATTTCACTCCACGGCCCTAAGAGGTGGGCCTTATTATTAGCCA CGGCCAGGGTTAGGGTGAGGCCACTCCTCCAGGGCAGAATTTCAGGGGGT GCCCACCCCCCCGCCCTAAATCATTCAGCAATCAACATAAATTATAGTTC AACGCAATATATCTTATCTTGTGGGCCGCAAGCCACCCAGGTGCCCAGGC AAGAGCCTGAAGGCACAAGCTGTTCCAGTACAGCAAAGAAAATAATTAGA ATAAGAAAAGTTTTACTAGAGATAGGAAACGGATAGGATTATATCTGACT ATTATTAATCATTAGTTTGTAGCATCACTCTTTGTTCTATTACCATAATG ATCTCTGTTCTATTATGATTACCTTGGGGGAAACCAGGCCACACAGAGTT AGGAGCTGAAGGGCCACAGTGAGAGGTGACCAGAAGACAAGAGTGTGAGC CCTCATTCACGCCCAGAGAAGGGCCGCTGGAGGGCTCCTTGGCCTAGCGG TAATGCCAGTGCCTGGGAAGGCCCTGGTTACTTAGCAGGCCTTGGTCTAG CGGTGGCCCCAGTGCCTGGGAAGGCACCCGTTACTTAGCAGAATTACTAC GCAGCCATAAAAAAGGATGAGTTCATGACCTCTGCGGGAACGTGGAGGGA GGAAAAGGCCTCATTCTCAGCAAACTGACACAGGAAGCGAAAACAAACAC CGCATGTTCTCGCTCCTAAGTGGGAGTTGAACAGCGAGAACACATGGGAC ACAGGGAGGGGAACATCACACGCCGGGCCCTGACGGGGCGTGGGGGGCAA GGGGAGAGAGAGCATTAGGACAAATAGCCAACGCATGCGGGGCTTCAAAC CTAGACGACTGGTGGATAGGTGCAGCAAAGCACCGTGGCACACGTGTACC TATGTTCCAAACCTGCACGTCCTGCACATGTACCCCAGAACTTGGGAGGG GGTGGGGGAAACCAAAAGAGCGAGGGAGAGGCGGGGGGGGGGAAGAGAGA GAGAGAGGGAAAGAGAGAGAGAGACAGAGAGAGGAGAGAGAGAGAGAGAG AGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGACGGAG AGACAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGACAGGAGAAAGAAGAACTCCGGGTGGGTCCCATTCCTTTAAAAG GTCGCCACCCACTCGACTGCCAAGCTGAGATCCTAAGGACCTCCCCAAAG GAGGAGGTCGTGGCCTTCCCAAAGCGCAGTAGCCACGGTGGAAACGACAG CGTGCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0025 a0002c0003t0002g0025	1	334	0.0030	-2156	c.-50 others(11): Show c.-5069_-2914del		CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding				2845		chr17	TogoVar
DENND1B_chr1_197499748_197780480	197751769	AGGAGGCG others(2149): Show AGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTACACTCCAGCCT GGGAAACAGAGACAGGGGAGGGGAGGGGAAGGGAAGGGAAGGCAGGGGAA GAAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGGAGAAGGAAA AGAAGGAGAAGAAAGAGAAGAAGGAGGAGGAGGAGGAAGGGGGGAGGAGG AGGAGAAGGAGAAGAAGAAGAAGAAGAAGTAGAAGGAGGAGAAGAAGGAA GAGAAGGAGGAGGAGAAGGAGAAGAGGAGGAAGAAAGCAGAAATCAATGA AAACAGAAAATGGAGACATGAACAAAATACTCTATTGGCTCTCTGAAAAT ATTAATGAAATTGATAAACTCCTAAACAAGACTAATAAAAAAAGAGAGGT GATATGCGAATTATTAATATTGGAAGAAAAGGGGGCTTATCACTGCAGAT CTTATGAAAATTAAAAAGATAAATATTATGAATGGTTTTGTGCCAATACC TTTCACAATTAAATAAAATTCCTGAATTTTGTTTAAATTTCAAATTCCTT GAAAATTACCAAAACTGACACAAGCAGAATCCAAAAGTCTGATTAATCAT TTATCTGCTAAAGAATTTGAATTCATAATTAAAATCCTTCCCACAAGAAA CATTTGGGCCTAGGTAACTTCATGGGTGAATTCTATCAAACGTTTAAAAC AACAGTATCAGTATAATTCAACTAAATTAAGTTTCTATATACATTGAAGA TGTAATTGTAATAAAGCAATTTTATCAGAAATATATTGAAAACACTAACT TCTGATTTTCCCTGAGTTTAGTAGCTCTTTGGCAAAAACACCAAAATAGA AATTTTTTTCAAAGACTAATTTTTTTTCTTTATTATTATTATACTTTAAG TTCTAGGGTACATGTACACAACATGCAGGTTTGTTACATATGTATACATG TGCCATATTGGTGTGCTGCACCCGTTAACTCATCATTTAGGTATATCACC TAATGTTATCCTTCCCCCTCCCCGACCCCACGACAGGCCCCGGTGTGTGA TGTTCCCCACCCTGTGTCCAAGTGTTCTCATTGTTCAGTTCACTCTATGA GTGAGAACATGCAGTGTTTGGTTTTCTGTCTTTGTGATAGTTTGCTCAGA ATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATC CTTTTTTATGGCTGTGTACTATTCCATGGTGTATATGTGCCACATTTTCT TAATCCAGTCTATCATTGACGGACATTTGGGTTGGTTCCAAGTTCAAAGA CTAATTTGACTACAAAAAAATTTAAACTTCTGAATAAAGAACATAAAACA AAATTAAAAGATAAATGTTAAATTGGAAAAATATCAATATGCGATAAATA ATTGGTTGCTACAGATAAAATTAAAGCCTTTATCAAACGTGCAAAAGACA AAAATATAAAATGCACCAAAGAATTATTAATGCCAACATGAAATACTGGC CAACTTTTCTAATTAATCGAAATATAAAGTAAAGCAAGACAGGCAAAAAT GCTTTCAAAAATTAAAAAAGGGAAATATCTCTGGAAAAGGCAAACTGTAG AGACAGTAAAAAGATCAAGGGTTGGAGGTAAGAAGGGATGAAAAGGTGAA GCACAGAGAATATTTAGGGCAATAAAACTATTTCTGTTTGATACTATAAT GGGGGATACGTGTCATTATACTTTTGTCAAACCCATATAATATACAACAT GATAAGTGATCCCTAAACTATGGCTTTGGGTGATAATTAAGTGTCAATGT AGATTCATTGCTTGTAATGAATTTACCACTCTGGTGGGGGATGTTGATAG TGAGGAAAGCTGTGCAGATGTCAGGGCAAGTGATATATGGGAAAACTCTT TACATGCAATTTTGCTATGAACCAAAAACTGCTTTAAAAATAAAGTCGAT GGCCACGCGCGGTGGCTCACGCCTATAATCCCAACACTTTGGAAGGCCCA GGCAGGCAGATCGCCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACAT GGTGAAATCCCGTCTCTACTAAAAATACAAAAAAAACTGGGTGTGGTGGC GCACATCTGTAGTCCCAGCTACTCAGGAGGCTGAGACAGAAGAATCGCTT AAACCCG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0268 a0001c0001t0013g0268	1	280	0.0036	-2156	c.82+ others(17): Show c.82+18943_82+21098del		DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	2/22					chr1	TogoVar
GRIP1_chr12_66342431_66684076	66398194	CTGCCAAC others(2149): Show CTGCCAACATATAATTTCTTCTCTTTCCTTCCCAGAATATCTTTAAAACA TAAATCTGAATATGTTACTCTCTTACTTAAAGCTTTTCATTGGTTCCTCA GTTCTTTAAGAATAAAATACAACCCCTGTGCAAGAGCTGAGCTGGCCCCC AGAGGGTCACGCCATTCTCCCCCATCCCAATCCAATCTGCTAAATTCTCT CTTCATAGAACCACTGCAATTCCTTAAATAGCACTTTTCTAACATCTTTA GCCCTTGCACCTGTTACTCCCTATGCACAAACACCTTTCTCCCATTTGTT ATCCTGTAGAATTTCTACTTTTACTTTAAAGCTTGGCTCAGAGTCTCATC CTTCAGAAAGGCTTCCTGGTGGCTTAGCTGGAGGGGCTAGAGGCCTTCCT ATGAGACCCACAGCTTCTGTGCATTCTTCTGATGTTTCTAAACTTTTATT TTCATTCTTGCTCTCAAACAAGGAGAAGAGTGAAATTATTTTTAAATTCT CCTTAATGAGAGAAGTTAAATATTAAGGACTAGAATTCCATCAGGTATGA TTGAGATTTGGAGGGCCACAAACTATTATAATATAATATCCAAGCTATCA CAAGAACCAACTTTTAAGAACCAATTTTTGCCCCCCTTGAGAATGCATGT TCTAGCATATGCCTTTCACTCTATGTTTTAAGGATCTCGCTACTTGGTTC TTCATTAGAATAAGAATACCTTGAAAACAGAGATTTTTAACTCATATCCC CATAACCTAGAACTATGTCTGGTACCAAAGCAAACTCAGTAAATGCTTGA ACAAGTGAGCAGAAGGATGAATGAATATTAGCATGTAGTCATTGGTTCCC AGGCTGAGATCTCCAGAAGAGTATTGCGAGTCAGCTTCCCTGCTATGCCA AGGTCTAGTTTCCTTTTCTAAGACATGTGATGCAAACCCAATCTCATTCA AAGTTTGAGAATACAACCTCAGCTGCCATTGTGGGGACAAGCAAACCTAG AACTTCCTCCCTCCACCGTGCCAGGAGCGTTGAGTCAGCTTTAGGGTCAA CTGCCAATTCCACCTGCCTTCTCGGGCTTTAACTCAACTGGTGAGGCCCT GCAGCTTAGGAGGAGGGTAATAATTGCCATTTAAGAAGGAATACTCAGAC TATTTTGGAGATTGAAGCACTCCTAGATACACTCTCCTTGAGGCTGCTCC AGTGTAGAAGTCTTAGAAAGGAGCAACTAGGGTGTTTAACTAGAAGAGAA ACTTCTGAGAAAGAAAAACGTAGAATCACTAGTAAGTTTCAAAGTGAGCC TAAGCAGATGTTAATGATATTATAAACAACTTTTATATCCCAACAGAAGG TTTACAACGATTAGTGAAAGACAGGAAAGGGGGCAAGCCTACTTGTTTGT TCTGCTCAGCTCTAGTTAACAAAATTAATGGAAGCACGGAACAGATGCAA AATTGCTGCATTACTTATCTGCAATGTTATTTTCAGGCTTCTTGAGTGCT GCCTGTTTAACAAAATGAATGCTATCTGGCTTGAATCCATAATGGTAGCT GCTTCTGTGGCCAAATAGGAGGCTTGGATTTGGGAGAGAGCCTTTGGAAG GCGTACATGTGCAGGTCAGTCAAAGTTCACTTCAACTAAAAGTGATGGAA TTAATTTTAGAGTACGGCTAAATTTCTTGGAGTCGGACAGGCCTGAGAAA GTAAACCATTTGAACAACACTCTCTACAGCTCCCTTACTGCTGCACGGTC ATTTTACATAGATATGTCACAATGATATACCAAGAGATGTCCAAGCAAGT GTTGAGTGTTTCAGAGTAGAATTCAAATTTCTTTGTGTAAGTGATAATTT TAAGTCTCAAAACTAGGTTTGTTTGTGACAGCATTTCTCAAAGTGTAGTT CTAGGACTAGCAGTTTTGGCATCATCTGCAAACTTGTTAAAAATGCAAAT TCTCAAGTTTGCATTTGACTGAGAATCCCTACCCCACAGACCAACAGGAA TGGGAACTCTGGGAGAGGGGCCTAGTCATCTGTGTTTTAATGTCTTCTGG GTGATTCCGATGTACACTCAAGCTTGAGAGCCGTCCCTTTATGAGATCAA GCATGCAAAAAAGAGAAAAGTACTTTTTATCATAGGTCCTTCTTGCAGCC AGCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03486.hp1 NA20129.hp1 HG02896.hp2 HG03486.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0017 a0002c0002t0007g0088 a0002c0002t0007g0194 a0002c0002t0007g0017 a0002c0002t0007g0088 a0002c0002t0007g0194	3	224	0.0134	-2156	c.198 others(19): Show c.1984+5933_1985-3843del		GRIP1	ENSG00000155974.14	transcript	ENST00000359742.9	protein_coding	16/24					chr12	TogoVar
PRAMEF25_chr1_13065774_13082884	13069405	TTTTTTTT others(2149): Show TTTTTTTTTTTTAATTAGCCGGGCATGGTGGCATGCATCTGTAGTCCCAG CTATTTGGGTGACTGGTGTGGGAGAATCACTTTAGCCCAGAAGATTGAGG CTGCAGTGAGCCATGCTCACACCACTGCTGTACTCCAGCCTGGGCAAAAG AGAGAGACCCTGTCCAAAAAACAAAAACAAAATCTTAACAAAAAAGGATC TTCGACCTTAATTTTAAACCAATCACATCCTCTCGGTAATTCTTCCACCT GAATGGAGACATGGGTGTGGGGTGCATGCCTGTAATCCCAGCTACGTGGA AGCCTGAAGCATGAGAATTGCTTGAATCTCAGAGGCGGAGGTTACAATGA GCTGAGATGGCGCCGCTGCACTCCAGCATGGGGCAAAAAGTTAGACTCAG CTTCCCCCACACCAAAAAAATTAGATTATACCACCCAGGTGATCACTGGA TACATGAAGATTTCTATTGTGTTTTCTTGGGGACTGTCATCTCTGTCTTT GTAAAACGTTTTAACTCTGAAATATTTCGATAAATTTGATGTGGCCAAGG ATCCCTCAACAAAGGTACTTTCAAGTTTTTTCTTTTCTCTAATGTCAGGA AGAGATTCAACCCTTCCCTCTCTCACACTCAGGACTTTGAAGGACACATA TTAGTAAAACTCCATGTTTATGGAGTGAATCACTGAATGAGTCCTGGACT TTCACCCTATCCCTAATTCTTTCACTTCGATGGATGAATATCTAACTCAA TCAGTAAATCTGGAAGAAAGCCAAAAATCCAATCAGGATTAACTGGGTAG AGTTTAAGAAGTCAAATCAAATGTACAAATGTAGTTCTCTCTCTCTCTTT TTTCTTTTTTTTTTTTTTTTTTTTTGAATCTTGCCTATTTCCCAGGCTGG AGTGCAGTGGTGTATTGTCAATTCACTGCAACCTCTGCCTCCTGGGTTCA AGCGATCCTCCTGCCTCAACCTCCCTGGTAGCTTGGACTATAGGCACAGA CCACCGCACCTGGCTAATTTTTGTAATTTTGGTAGAGGTAGGGTTTTACC ATGTCGGCCAGGCTTTTCTCAAACTCCTGACCTCAGATAATCCACCTGCC TCTGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCTCACCTGGCC TTGAATGAATGTATTCTTGACTTCTACCCTATCCCTAACACTGTCAATTT CTTGCTTCATGAAGTGAATATAGATATGTGATATGAATGGACATCTGATT CAATCCATTAATCTGGGGAGAGCCAAAAACCCAATCAGGATTAACTGGCT GGAGCTTCAGAAATGCAATCAGATATCACTTTTTGATTGGAAGCTAGCAG CGGATACGTGGAGGGGCGTGGGTGGGAGTTGTGACTAGAAACGTCAATAA AAGCTTCTAAAGACCCACAGGAGAGACCCAAAGTCTTCAAGCCTGGAGTT CCTGCCTGGTTCTTCCTGAGGTCTGAGCACCTTCTAAACTACATCCAGAT CTGGTAAGTCATTAATTTCTGTAAGGACACTCCCATCTGACCTACAGTCA GCTGGTCTGGGATGGTGACAGTGCAGCCTACGATGGCACAGAGCTATATC CTGTCCTTTTTTTTTTTCATATGAACAATTTGAAGCTTTGAATGTTTTCC TCTAAATACAGTTCTGTCTTTATTTCAAAAAAGTTGATTGTGCTTTGGTT TAGGTCATTTCAAAATTCTTGAAGGGAGCAGTGACTCATGCCTTTAACCC CAACACTTTGGGAGGCCAAAGTGGGAGGATCATTTCAGCCCAGGGGTTTG ATACCAACCTGGGCAACATGACAAAAACCCTCCTCTACACAACGTTTTTT TTTTTTTGAGGATGGGGATGGAGTCTCGCTGTGTTGCCCAGACTGGAGTG CAGTGGCACGATCTCAACTCACTGTAACCTTTACCTCCCAGGTTCAAGCA ATTCTCATGCATCAGTCTCCATACAGAGAAGCTGGTATAACAGTCATCTG AAACCATGCCTGGCTAATTTTTGTATTTTTAGTAGGGGCGGGGGTTTCAC CATGCTGGCCAGTTTGGTCTCAAACGCCTGACCTCAAGTGATCCACCTGC CTTGGCCTCCCAAAATGCTGGGATTAGAGCCATGAGCCACTGGTGCTCGG CCTCTAC	T T	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG01070.hp2 HG02109.hp2 HG01070.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0092 a0002c0002t0008g0093 a0002c0002t0008g0092 a0002c0002t0008g0093	2	156	0.0128	-2156	c.-15 others(13): Show c.-1507_-17+665del		PRAMEF25	ENSG00000229571.7	transcript	ENST00000619661.3	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr1	TogoVar
TRPC5_chrX_111763011_112087776	111943871	GGTGGTGC others(2149): Show GGTGGTGCCTTGTGAGGAGTACCGTTTGCCAGCTGGTCTCTCCATACCAT ACGACATGCTAAGTCAAATGGATGGAGTAAAGCTGAAAATAATAGTTATT GACCTCTGTGTAGCATTTTTCAAAGCTTTTTTTCAAAAGACTTGGGCATA TCTTAACCTTATTTCTTTCTCACAATAGGTTTCTGGATTAGGTAGGGCTA GGCATTGTTAGCTTCATTCTGCAGATGGTGGAGTTGAGCTACAGAGAGAT TCTGTGACTTGCCCAAGGTCACACTGTTAGCTACAAGCTGGCTTGCACCA TTAACGGTGAATTAGAGTCTGTCACTCTGTCTTGTAGGCCAGTGGCTTTT AAGCTGTGTTCACTCCTCAGAGGCCAAGGAGGTGTGGGAGTAGAAGAGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAACGAACAAGTGGGTTTGAAATACAACCTGCA CTTAAACTAGGGAAACTCTGCTTGGGTCTGTTTTGCATCTGAGTGGGTTT TCATTTAATGAAAGACTCTACTGCTGAAAATGTTTAAGAACCACTTGTTT AGACAAATATTTCTCATAGAGAGTATAGTGGGTTGAACTGTGTCCCCCAA AAGATATATTCAAGTCTTAACTCTTGGTACTTGTGAATGTGACCTTATTT GGAAGAAGGGTCTTTGCAGATTTAATCAAGTTAAGATGAGGTCATCCTGG ATTAGGGTGGGCACTAAATCAAATGACTGGTATCTTCATAATAAAAAGGA GAGGAAGATTTAGGTAAAGAGACACAGAAGAAAACTACAGAGACACAGAA GAAAGATACAGAGGAGAACTCTGACAACAGAGGCAGAGATTGTAGTGATG CGGCTATAAGCCAAGGTATGCAGAGGATTATCAGCAACCACCAGAGACTA GCAGGGAGGCATGGAACAGATTCTCCCTCCAGAAGAAACCAGCCATGCTG ATACATTCTTATCAGACTTCTGACCTCTTGACCTGTGAGAGAAGACATTT TTGTTGTTTTAAGAGACCCAATTTATGGTAATTTGTTATGGCAGCCCTAG GAAACAAATACAGAGAGGTACGTGGACCTCTTACCTAGAAACAGGTTGGG GTGCATTTGTTAAAATTCTGCTTTCAGACCTAAACTCCAAGATTCTGAAT CTGTAGGTATGTAGTGGGGCTCAGAAATCTGCATTTTGACAAGTTGCTCA TGTGCACAACAATTGATTTAGAGCTGGTTTTGAGCATACACAGACGCGAG TCTCCTCTCTGAATTGCGGTTGGATTTGCTCTCCCTGATAACAGTACTCC TCTAGTGGTTTCTACAGTCAGTGGCTCAAAGGTAGCAAGCATACTAGACC AGAAATAGGTGGGCATTAGACCTTATGTTGTCTCAAGAATTTTGACTTCT GAGACCAATTTCAGATGATTTACCCAACAAAAATCACAAATTTCCCTGGT TGTCAAAAATCTACCCCTAAGTAAACAGGCCACAGTGATTAGGTAGTGGG CCAAGAGGGTCAGATTTCTGGAGCAACAAGTCCACAGAGTAACATATAAC ATACACACACACATGTGTGCGCACACACACCGACATACATAGACACACAC ACCCCTGTTTGGTGAGGAAAATTCTACCTGATAGAGTGTCATCATATTTT TAAAGATTTTGTTCTTATTAAAAATGAAAGTCTCCATATCAAAGTTGATC CTTGAAGTTACTGTCAGCCCCTTATGCCCAGCCCCTGACCTTTGTCTGAG ATGATAGACTAAAAGACGGGGAAGAGCACAAGAGTCTGGGATAAGGATAG AGCAGACAGCTTCTTACTTCTAGCCTGGAGCTAAAGCCCTTGCCCAGTAA AGCCAAGGAAGGCAGTGGTTTATCTTCCCAAGAGTGATGGAGGTCAATTG TGCCCAATATCCTGGAAAGATAAGGGAGGGACTCAGTGAAAAAGAGTAGT TGTTTGAATTCCAAGTGTGGGAGAAAGGCCTCCCTGAAAATGGCTTGCCC GTCTAAACCAAAGGTCCTTCAGAAAGTCTGTGTTTGCTCACATCCCTGAT GGCTCCCAAGTAAACAAATTTTGTTTCTATCTCCCAGAAAGACAGAGCTC CAGTACT	G G	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	161	0.0062	-2156	c.378 others(17): Show c.378+6016_378+8171del		TRPC5	ENSG00000072315.4	transcript	ENST00000262839.3	protein_coding	2/10					chrX	TogoVar
FAM107B_chr10_14513557_14779897	14710482	TGTTTAAA others(2148): Show TGTTTAAAAATACCAATGCTTAGGCCCTACCCCAGAGATTCTGATTTACA GTTATTTATTGCATAATGACATTTTGGTCAATAATGGATGCCATTCACAA CAGTGGTCCCATAAGAGTATAATCAAACTGAAAAATTCCTATTGCCTGGT GACATCCTGATGATCCTAACCCTGTGTTGGCCTGGGCTCATAATGTGTGT GCTTGTTTCTTCACTCTTAACAAAAAAAGTTCAAAAAGTAAAAAATAAAT TTTTTTAAAAAGAAACAAGATTATAGAGTATGGATATAAAGAAAGAAAAA ATATTTTTATAGAGCTGAACAATGTGTTTGTATTTTAAGCTAAGTGTTGT TATAAAACAGTAAAGAAGTTGAAAAAGTAAAAGGTTTATAAGGTAAAAAT TTATGGTAAGCTAAGATTAATTTATTATTAAAGAAATAATTTTTTTTTTG AGATGGAGTATTGCTCTGTCACCCAGACTAGAGTGCAGTGGCGAGATCTC AGCTCACTGCAACCTCTGCCTCAAAGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCCTACCACCACGTCTGGTTACCTTT TGTATTTTTTTAGTAGAGATGGGGTTTCACCATATCAGCCAGGCTGGCCT CAAACTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACTGTGCCCGGCCATAAAATTTTTTTAATAAACA GTGTAGTCTAAGTGTACAGCATTTATAAAGGCTACAGTAGTATGCAGTAA TGTCCTAGGCCTTTAGATTCACTCACCACTCACTGATTGACTCACCCAGG GCAACTTCCAGTCCTGCAAGCTCCATTCATGGTGAGTGCCTGGACAGGTG TATCATTTTTTATTTCATACTGTATTTTTACTGTACCTTTTCTTACGTTT AGATACACAAATACTTACCATCGTGTTACAATTGCCTACAGTATCCAGTA CAGTCACATGCTACACAGGTAGCCTAGGAGCAGTAGGCTATACCGCCTAG CCTAGCTGTGTAGTAGCCTAGACCATCTAGGTGTGTGTAAGCACAGTCCT ATGATGTTCACGTAATGATGAAATTGCCTAATGAGGCATTTCCAAAAATG TATCCCTGCTTTTTTTAGTTTTTATCTTTTGAGACAGAGTCTCGTTCTGT CGCGCAGGCTGGGGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGC CTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCATGAGTAGCTGGTAT CACAGGCACCTGCCACTACACCCAGCTAATGTTTGTATTTTTAGTAGAGA CAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGT AATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCA CCGCGCCCGGCCTCAAGATGTATCCCTGTTGTTAAGTGACGCAAGACTTT AATGAGTGTGCAGTGCTACATGTGGGTTTCCCTGTAGTAGTCTAAGGCTT AAACCTACAGGTTCTTGCCAAAGAGCAAGAAATCTCCCAAGGTTACAAAG TGAAGAAGACAGGACTTTCAACCCTAAGCAGTCAGCATCAGTTAAAAATA CACAGATTTATTGATAGTTTTCGAAGGTACAGAACTTAGGATATTCAATT TTCCATGATGTGATTATTACCCATTGCGTGCCTGTACTAAAATATCTTAT GTATCTCATAAATATATACATCTACTTTATACTCACAAAAATTAAAAAAT TAAAAAAAAATGTTTAAAAAGAAGTTGGGGCCGGGTGCGTGGCTCAAGCC TGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTGGATCATTTGAGGTTG GCAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAA AATACAAAAAAAATTAGCCAGCTGTGGTGATGGGCGCTTGTAACCCCCGC TACTAGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGT TGCAGTGAGCCCAGATCGCGTCACTGCACTCCAGCCTGGGGGATAGAATG TGATTCCAGTCCCCTGCCCTGACTCCCACCAAAAAACAAAAAAAAAAGAA GAAGAA	T T	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	272	0.0037	-2155	c.412 others(19): Show c.412-44946_412-42792del		FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4					chr10	TogoVar
FBXO47_chr17_38931432_38972403	38939322	AAATATAT others(2147): Show AAATATATATATATATATATATATGTATTGAAAACAGTTACTGAACATAG AAAAAAAATTTCTGCTCATTTACTCATTCAATAAACATTTATTGAGCACC TGCTAGGAGCTGAAGATACAATGACAAACCATAAAGACATGGCTCTATTT TCAAGAAGTCCAATGAAGGTGATAGACAAATGGGCAATTTCAATAAGCAA GAGAATTCTATGGTATTGTCGACTTTCCATCTTGAGAATTTTAGGGAATA TTTGTTTCTTCATTATTGAAAAGATAAATATTTAAAGATTACATGTTCCT AGCTAAAACTGACTGAAAAGTAAAAGGTTTCTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCCGGACTGCGGACTG CAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTG TTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCACCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGT TTCTTTACTAACATCCTTAATTGCCAATCTAACTCACATAGCCAAATAAA TAATGCATATTATTAAAATAAACTGTATAGTAGTGTAACTAAATAATAGC ACTGTGATAGGAAAGATCTATTGACTATTTATTATGTGTAAAGCACTGTA TTATGAACTATGAAAGAAATAAGTGACACAGTACTGGATTTCAAAGAGCT TGCAGTCTATTTTGGGAGATGACCTACTCCACACATACAGTGGCTTAAGG ACACTAATAGTAGATGAAGATAGAGAAGACAAATCAGAGGTAATTCAGAG AACTTTAATGATCAGAATTGACATGTTAATCAGAGAAGGCTTTCTAGAGA AGGCTTCCCCACCCCTAGTGATTTTCTCTTCATTACATTTGCTATAGTGC TGCCAAAATGATCTGCCAAAAACACAAAGCCAATTATGTCTCTCCCCTTC ATAAAACTTTTCAGTAGCTCCCTATTAGAAAATGGGTTCAAGCTCCACAG AATGGCCCACAAAACCCTTCCTTACCTAGCCTCTCCCTTCATGTCTAACC TCACCTCCTGCTACTCTTCTGCAGATTCTACCCTTCAGAAATCATACTGA ACTGCTTACAGTGTCCTGAATACAGTCACATGATCCCATTTTTCTTCTGC CTTGAATAATCTGCTGCCACCCTCTATCTGCCTGGTGAACTCCTACTTAT TCATTTACTTATTTATTTTTTAGAGACAGGGTCTCCCTCTGCTATGCAGA CTGAAGTGCAGTGGCGTGACCATAGCTCACTGCAGCTTCAAACTCCTGGG CTCAAGTGATCCTCCTGCCTCAGCCTTCTGAGTAGCAGGGACGATAGACA CACACCACCACACCCAGCTAGTTTTATTTTATGTTTTGTAGAATTGAGGC TTTCCCTATATTGCCCAGGATGGTCTTGAATTCCTGGCTTCAAGTGATCC TCTGGGCTCAGCCTCCCAAAGAGCTGGGATTATAGACATGAACCAATGCA CTCAGCCTTTTATTTAAGTAATTTATTTTTTGAGATGAGATCTCATTCTG TTGCCCAGGCTAGAGTGCAGTGGTGCTATCTTGGCTCACCACAGCCTTGA CCACCCAGACTCAAGTGATCTTCCCACTTCAGCTCCTGAGTAGCTGAGCT CACAGGCACGCATGCCACAACTCCTGGCTAATTTTTAAATTTTTTATTAT TTATTTATTTATTTTTTTGAGACAGCATCTCACTCTGTCACCTAGGCTGG AGTGCAGTGGCATGATCTGCTCACTGCAACCTCCGCCTGCCAGGCTCAAG TGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCC ACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGTTGGCATTTCACCAC TTTGGCCAGGCTAGTTTCGAACTCCTGACCTCAGGTGATCCGCCTGACTC AGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATCATGTCCGGCCAA TTTTT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	344	0.0029	-2154	c.108 others(18): Show c.1083+1302_1084-591del		FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	9/10					chr17	TogoVar
KCNC2_chr12_75035078_75214839	75126511	AATTATAA others(2147): Show AATTATAAAAAGAGGATTTCCACAGGATGTTATGGAAACAAAGGGCAGTT AATAAGAGGGGGAGAATGTTCCAGGCACTTAGGAGTTTATAAAGAAGGTA GAAATAGCATGAGACGTGGAAGGAACAACAAGACATTCAGAATCGTTCTG GCACAAAGATGAGTCTGAAAATGAAGGGTCTCATGGGTTAAGCTTAAGAT TTTAAATCTTATCTTAAACACTATAGGGTCCCATCAAAAGTTATAAACAA GAACATTCAGGATAAGATATTTGTTATACAAATATTATTCTAGCAGTAAA GAAAATTAGAAACACGCCTTTAGAAAAGCATTTGGGGCAGGAAGGACTTC CTAGGGTTCTTAAATCACATGGTATAGAGCCAACTCTTTTATCTGTAATT TTCCAGGCATGACACTGGCATATTAAAAGAAAAACTTACGTATAATAATC GAAAAGCTTCGAGCTTTCCATCATGCCTACTAAAACAGTGCTGTGTTAAA TGTGCCCTGGTCTAGTTAATGTATTGTGTATTTCTAAAAATCTTTGCTTT CTAGTTTGTCTCAGTTAGTGTTTTGGGTTTGGCACTTGTCTCAAAGAGTT ATGAATGGGAACTCAAGGTGGAAATAACAGAATACAGTCTGTAACAATCT CTGTACTGTTGCAAAAGTCACATTTTAACAAAGCGAGAATTAGTAGTTAC ATGACGGTGCTAGTTGAAAATGTAGCTCAAATTAAATTCAAGCAACATTG AAAATTACAGGATCCCTCACTTGCTTTCAGAGAAAAAGGTCAGTTCTTAG CTGCTGACAAGAAGAGAAAAAGGAGGTTGATATTTAAGGAAAATTGCCTA TGGCTTTATGGAACTACGGAGACAACAGGCAGTCTCAATAGTCTGTATTA TTTCATTCTAGTGATTGGAATTAATAAATAATTGAACATGTCAGTTGAAA ATATAAATAAAAGGGAAGGGAAGGGAACTAGTTTGATCAGGTAAGCAAAA CATGTAGACTCCCATTGCCAAACTGAACAGCTTCAAGAGGGCCAGGAGGC AAATAAAGGCATTGACCTTAGAACTGAGAAGAATAAAAACTAGACTTGGT AGATAAGTAAATGTGGGGCAGCAAACAGTTCTTTCTCTAAAATGAGGAGG CAGGTGAAAGAGACACAAAATGTGTCATGGTTTTTACCTGTACAAAGGCT GTAGCCATATAAAAATACATAGTGGAGACTTTTCTCCAAGCTAAGAAAGA GCATCACACCACAACCACTAATAAAGGTCATAATGATGAACATCTTCTTT AATATTAAAGTGTCATAGCAATGAAAATATCTAGTAATGTAACAGGATTT CCCAGTTTCAGTTGCAATATTGTGGAAAAATCTTATTACCAGACTACCTC TGCAATCTATTTTCTATTACTTTTTCTCCAAATGAATCTACTTTTCTTAT TATAATATCTTAAACCTGAAAATATTCACATAATAGATTTCAAATGAGAA TGGCAATGATAAAGAAAAATCTTCCATGTAATAATCACAAAATTATACAA TGAAAAATAATAACTCAAATTATATGTAATTCTCTATGGCCCACAATGGA AATCTATTATATTCACTCAGAAGTAGAAATATATTCAACATAAAATGAAA TTATTTTAAATATCTAAATAAGCCTTATTTCTGCAGAAAATTGTCCATGA CCAAAGCAGTGTAAAAATTGGAGGTGTAAATTCTTAACTGGCCAGCCTCA CATCCCCATATGCTTTAAAAACCTACCAGGAAAGAGCAAGAAGTTTGCAT TAGCATATGTGGACCTCCAAAAATTACTCATTATTTCGTGATTCCAACAC CCAATTTACAAAATTAGTTAACATACCGAGTCAGCAAATACTCCTATTAA ATATTGTTATAAAAAACAATACTTGGAGAATTAAAGTCATAGTTTTAACT GTAAGAACCTACTCAAAGAAGGGATTAAATAAAACAAAACGGGTCAAAAA ATTCTTTGTTCCCAAAGACAGCAGAGCATATTTGCACATCAGGATTTTTA GATTTTTACATTTATACAAGCCATACCCAATCTCCTCTGTTCAGAAGAAA AGAAAATCATACTTAGGGTTTTGTTCTTCAAATCCTACAACAGGAAAAAA AACAG	A A	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	316	0.0032	-2154	c.688 others(19): Show c.688-77348_688-75195del		KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4					chr12	TogoVar
FBXO47_chr17_38931432_38972403	38939323	AATATATA others(2146): Show AATATATATATATATATATATATGTATTGAAAACAGTTACTGAACATAGA AAAAAAATTTCTGCTCATTTACTCATTCAATAAACATTTATTGAGCACCT GCTAGGAGCTGAAGATACAATGACAAACCATAAAGACATGGCTCTATTTT CAAGAAGTCCAATGAAGGTGATAGACAAATGGGCAATTTCAATAAGCAAG AGAATTCTATGGTATTGTCGACTTTCCATCTTGAGAATTTTAGGGAATAT TTGTTTCTTCATTATTGAAAAGATAAATATTTAAAGATTACATGTTCCTA GCTAAAACTGACTGAAAAGTAAAAGGTTTCTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCCGGACTGCGGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC GCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCACCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGTT TCTTTACTAACATCCTTAATTGCCAATCTAACTCACATAGCCAAATAAAT AATGCATATTATTAAAATAAACTGTATAGTAGTGTAACTAAATAATAGCA CTGTGATAGGAAAGATCTATTGACTATTTATTATGTGTAAAGCACTGTAT TATGAACTATGAAAGAAATAAGTGACACAGTACTGGATTTCAAAGAGCTT GCAGTCTATTTTGGGAGATGACCTACTCCACACATACAGTGGCTTAAGGA CACTAATAGTAGATGAAGATAGAGAAGACAAATCAGAGGTAATTCAGAGA ACTTTAATGATCAGAATTGACATGTTAATCAGAGAAGGCTTTCTAGAGAA GGCTTCCCCACCCCTAGTGATTTTCTCTTCATTACATTTGCTATAGTGCT GCCAAAATGATCTGCCAAAAACACAAAGCCAATTATGTCTCTCCCCTTCA TAAAACTTTTCAGTAGCTCCCTATTAGAAAATGGGTTCAAGCTCCACAGA ATGGCCCACAAAACCCTTCCTTACCTAGCCTCTCCCTTCATGTCTAACCT CACCTCCTGCTACTCTTCTGCAGATTCTACCCTTCAGAAATCATACTGAA CTGCTTACAGTGTCCTGAATACAGTCACATGATCCCATTTTTCTTCTGCC TTGAATAATCTGCTGCCACCCTCTATCTGCCTGGTGAACTCCTACTTATT CATTTACTTATTTATTTTTTAGAGACAGGGTCTCCCTCTGCTATGCAGAC TGAAGTGCAGTGGCGTGACCATAGCTCACTGCAGCTTCAAACTCCTGGGC TCAAGTGATCCTCCTGCCTCAGCCTTCTGAGTAGCAGGGACGATAGACAC ACACCACCACACCCAGCTAGTTTTATTTTATGTTTTGTAGAATTGAGGCT TTCCCTATATTGCCCAGGATGGTCTTGAATTCCTGGCTTCAAGTGATCCT CTGGGCTCAGCCTCCCAAAGAGCTGGGATTATAGACATGAACCAATGCAC TCAGCCTTTTATTTAAGTAATTTATTTTTTGAGATGAGATCTCATTCTGT TGCCCAGGCTAGAGTGCAGTGGTGCTATCTTGGCTCACCACAGCCTTGAC CACCCAGACTCAAGTGATCTTCCCACTTCAGCTCCTGAGTAGCTGAGCTC ACAGGCACGCATGCCACAACTCCTGGCTAATTTTTAAATTTTTTATTATT TATTTATTTATTTTTTTGAGACAGCATCTCACTCTGTCACCTAGGCTGGA GTGCAGTGGCATGATCTGCTCACTGCAACCTCCGCCTGCCAGGCTCAAGT GATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCA CCACACCTGGCTAATTTTTGTATTTTTAGTAGAGTTGGCATTTCACCACT TTGGCCAGGCTAGTTTCGAACTCCTGACCTCAGGTGATCCGCCTGACTCA GTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATCATGTCCGGCCAAT TTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	344	0.0029	-2153	c.108 others(18): Show c.1083+1302_1084-592del		FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	9/10					chr17	TogoVar
SNTG2_chr2_945849_1372613	1343724	TTTTCCCC others(2145): Show TTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAG CTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAG AGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGT AGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGA CATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCT GGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAAT TTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTG TTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCA CTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCG CACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAG CAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGG AAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTC TGTAGGACAGTGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCA GGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACG CCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTT AATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCC TGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCT CACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACT GGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGC AGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAA GCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGC ACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTC CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGA CAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATG CATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGC CCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTG GGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTCCCCCTGTTCT GGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGG GACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACT TTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAG CTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAG AGTGGACTGGCACTTTTCCCCCTGTTGTGGGCACGCCTGGCCCAGCTCTG TAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGG ACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCC TGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAA TTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTCCCCCTG TTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCA CTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGG CAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0015 a0015	a0015c0036 a0015c0036	a0015c0036t0001 a0015c0036t0001	a0015c0036t0001g0070 a0015c0036t0001g0070	1	190	0.0053	-2152	c.148 others(21): Show c.1489-23611_1489-21460del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16				INFO_REALIGN_3_PRIME	chr2	TogoVar
PRAMEF6_chr1_12933472_12952580	12944074	AAGTCCTG others(2144): Show AAGTCCTGAGTGTGAGACAGGGAAGGGTTGAACCTCTTCCTGATATTAGA CAGAAAGAAAGAAAACTTGAAAGTATCTTTGTTGAGGGATCCTTGGCCAT GCCAAGTTTATCAAAATATTTCAGGGTTAAAACAGTTTTCAGAGACAGAG ATGACAGTCCCTAAGAAAACACAATAGAAATCTTCATATATCCAATGATC ACCTAGGTGGCATAAGTCTTTTTGGTGTTGAGGGAGCTGAATCTCACTTC ATCGGCCAGGCTAGAGTGCAGTGGTGTCATTTCGGCTCACTGTTGCCTCG GCCTCCAAGATTCAAGCAATTCTCATGCTTCAGCCTTCCACATAGCTGGG ACTACAGGCATGCACCCCCTGCAGCCATGTCTCCATTTGGGTGGAAGAGG ATGTGATTGGTTTAAAATTAAGGTCAAAGATCCTTTTTGATTGATTTTGT TTTTGTTTTTTGGACAGGGTGTCTCTCTTTTGCCCAGGCTGGAGTACAGG AGTGGTATGAGCATGGCTCACTGCAGCCTCAATCTTCTGGTCTCAAGTGA TTCTCCCACACCAGACACCCAAATAGCTGGGACTACAGATGCATGTCACC ATGCTCGGCTAATTTAAAAAAAAAAAAGTAGAGGCCAAGCACCAGTGACT CACAGCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGTGGATCACTTG AGGTCAGGTGTTCGAGACCAACCTGGCCAGCATGGTGAAACCCCACCTCT ACTAAAAATACAAAAATTAGCCAGGCATGGTTTCAGATGTCTGTGACACC AGCTTCTGAGGATGGAGACTGAGGCATGAGAATTGCTTGAACCCGGGAGG TAAAGGTTGCAGTGATTTGAGATCGTGCCACTGCACTCCAGTCTGGGCAA CACAGTGAGACTCCATCCCCACCCTCAAAAAAAAAAAACGTTGTGTAGAG GAGGGCTTTTGTCATGTTGCCCAGGTTGGTCTCAAACCCCTGGGCTGAAA TGATCCTCCCACTTTGGCCTCCCAAAGTGTTGGGGTTAAAGGCATGAGTT ATTGCTCCCTTCAAGAATTTTAAAATGGCATCAACCAAAGCACAATCAAC TTTTTTGAAATAAAGACAGAACTGCATTTAGAGGAAAACATTCAAAGCTT CAAATTGTTCATATGAAAAAAAAAAAGGACAGGATATAGCTCTGTGCCAT CGTAGGCTGTACTGTCACCACCCCAGACCGACTGACTGTAGGTCAGATGG GAGTGTCCTTACAGAAATTAGTGACTTACCAGATCTGGATGTAGTCTAGA AGGTGCTCAGTCCTCAGGAAGAACCAAGCAGGAACTCTAGGCTTGAAGAC TTTGGGTCTCTCCTGTGGGTCTTTAGAAGCTTTTATTGACCTTTCTAATC ACAACTCCCACCCACGCCCCTGCACATATCCGCTGCGACCTTCCAATCAA AAAATGATATCTGATTGCATTTGTGAAGCTCCACCCAGTTAATCCTGATT GGGTTTTTGGCTCTCCCCAGATTACCGGATTGAATCAGATGTCCATTCAT ATCACATATCTATATTCACTTCATGAAGCAAGAAATCGACAGTGTTAGGG ATAGGGTAGAAGTCAAGAATACATTCATTCAAGGCCAGACGAAGTGGCTC ACACCTGTAATCCCAGCACTCTGGGACGCAGAGGTAGGTGGATTATCTGA GGTCAGGAGTTTGAGACAAGCCTGGCCAACATGGTAAAACCCTACCTCTA CTAAAATTACAAAAATTAGCCAGTTGCGGTGGTCTGTGCCTATAGTCCAA GCTACTAGGGAGGCTGAGACAGGAAGATCGCTTGAACCCAGGAGGCAGAG GTTGCAGTGAGCTGACAATACACCACTGAACTCCAGCCTGGGAAATAGGC TAGATTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGA AAAAGGAGAGAGAGAGAGCTAGATTTGATTCGAATTTACCCAGTTAATCC TGATTGGATTTTTGGCTTTCTTCCAGATTTACTGATGGAATTAGATATTC ACCCATCAAAGTGAAAGATTTAGGGATGGGGTGGAAGCCCAGGACTCATT CACTGATTCCCTTCACAAACAAAATGGGGTTTTATTAATATGTGTCCTTC AC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01433.hp2 HG03017.hp2 others(3): Show HG01261.hp2 HG01433.hp2 HG03017.hp2 NA18970.hp2 NA19077.hp1 NA20752.hp2	a0003 a0018 a0003 a0018	a0003c0003 a0018c0018 a0003c0003 a0018c0018	a0003c0003t0004 a0018c0018t0004 a0003c0003t0004 a0018c0018t0004	a0003c0003t0004g0008 a0003c0003t0004g0054 a0003c0003t0004g0055 others(1): Show a0003c0003t0004g0008 a0003c0003t0004g0054 a0003c0003t0004g0055 a0018c0018t0004g0056	6	90	0.0667	-2151	c.-23 others(17): Show c.-23+1292_-22-1535del		PRAMEF6	ENSG00000232423.6	transcript	ENST00000376189.5	protein_coding	1/3					chr1	TogoVar
KCNG4_chr16_84213657_84245012	84241102	GGTGCCTG others(2143): Show GGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTG AATCCGGGAGGCGGAGGTTGCAGTGAGCTGAGGTCGCGCCACTACACTCC AGCCTGGGTGACAAAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAA AGAACCATCACTTAACAGACGCTTGAGTTTTGATGGGAGGATCCAGGAGT GAGGGAGATTAGAGGGTGAGCCTTCCACAGCTGCCTGCAAGGGGATGACA GGTGCTGCTGACCTAGGTGGGCTCTCTGTGGCCTTGGCAATGGGAACGAA TCCAAGCAGAGAAGAGAACTGACTGAATGGAGGTCCATCTGGTATTGCGG TTTTCAAATGGTATTGCTTGAAGCCTTAGGGCTCTGCAGAAATGATTGAG GGGCCTGGCCTGGGGCAGTGACAACGGGGAGGATGAACCCCTGGACCTGC TACCTCAGCCATGGCAGCTGCACTCTGATCTGTCTCCATAAGACTGTAAG TGTAACCCCAATAAAGGCTGTGGCCCAGCATGGTCCAGTGTCCACACAGA GCCACTCAAAGAGATCCCAGAGCACCTGCCAGTAATGGAGAAGTTTCCTT CCCTCCTTCCACTGACTCCCGTGTTCCTCAGACCCCACAGCTGCTCCAAT GGTGCTCTTAGAAGAGTCTTCAGAATTGTCTTTCCAGCTCATGATTCCTC CTCCTACCCCAGCTGTCTCCCCACCTCTCTCAGCTGTTTCTTATTTGTCT GGATTTAGCCTTTCTGGTTAAATCTCCCCTAACTTATCCCCATTCCTCTC AGTTCTCTCTGGATCCTGAGTATATGGGTTCAAATCAAGAATTTACCAAT TCCCTGCTGGGTGACCTTGAGCAAATTTCTTAACCTCTCTGTGCCTTAAA TTTTTTTGTCTGTGACCTGAAGATGACAGCATCTATCGATTTGTTGTGAG TTTTGAACAAATCAATTTACATTGATAAGGCTCTTAGAAGACTGCCTGTC ACAAAAGTGAGTCCTATCTATTCAAATGCTTGCTATTATTATGATTATCT TTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAG GCTGGAGTGAAGTGGCAAGATCTTGGTTCACTGGAGCCTCCGTCTCCGGG TTCGAGCAATTCTTGATCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCA CCTGCCACCATACCCAGCTAATTTTTGTTTTTTTAGTAAAGACAGGGTTT CCCCATGTTGGCCAGGCTGGTCTTGATCTCCTGGCTTCAAGTGATCCACC TGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCGTGCCC GGCTATGATTACCATCTTAGCAATTTTTTTTCCCCAAATTACCCAAGAAA GATTTAGGTAAATACAGGAGTCTGCTGTTCAAAAACTTTTCTAAAAGAAG GCTTGATTTACTGACCTAGTGCAGGTCCCTCATTTTACCTATAGAGGAAC TCAGACCCAGTGAAGGGGAGAGCCCTGCCTGAGCCCTCCCAGCCAGTGGA TGGCACTGCCAGGCTCAGTGTGGACTCACAGTCCAGTGCTCTTTCCACAG CTCAGTGCCTTCTGTCAATACACTTTGCCCAGGTTGTAGGACTTTTCCCT CAGCCTGGTGTTCAGTCCCGTCAGCCCTTTCCCCAGGGCATCCACTAAGC CCTTCTTCAGGTCTTTGTGAAGTCCCAGCCACCTTTTGGCTTAGTGCTAC TGTCTTCTTGTACCCAGTGTCCCTCCCGGGTATGGACACTTGACCTCAGC TAATCAGGGCCAGTAACCCATCTCCCATCCTCCTGGCGTCCTGGAAGCCT GGAACTCGAGGCATACGTAGAAATGCCCCACCCAGATGTCTTCTGCCACA TTTTTCTGATCAAGGGATGAGCCATAGTGACTACGTGTGAGCTTCTTATG GCTGCAGTAATAAATAACACCAATGTAGAAGCTTTAAATAATGCAAATTT GGTTGGGTGCGGTGGTTTCTGCCTGTAATCTCAGCACTTTGGGAGGCCAA GGTGGGTGGATCACGAGGTCAGGAGATCGAGACTATCCTGGACAACATGG TGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGCGGTG C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG02109.hp2 HG02572.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0010 a0001c0002 a0007c0010	a0001c0002t0007 a0007c0010t0003 a0001c0002t0007 a0007c0010t0003	a0001c0002t0007g0193 a0007c0010t0003g0220 a0001c0002t0007g0193 a0007c0010t0003g0220	2	472	0.0042	-2150	c.-36 others(11): Show c.-3623_-1474del		KCNG4	ENSG00000168418.8	transcript	ENST00000308251.6	protein_coding				1091		chr16	TogoVar
LIMA1_chr12_50170788_50288520	50172807	TGGCCTCC others(2143): Show TGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACTGTGCCTGGCCC CTGTTCATGATTCTATCCCCAGAAAAATGAGCATGTACCAATTCCCAGTC TCTTGGCTGTTGGGAAACATTGCTAATGAAATATGTAATGCAAAGCAAAT TTACTTTCACCTTGCCCAAGAGTGATCCAGCAAGTCACTGGAACCAAGCT GGCCTTGTAGCAGTCATGAGCAGAGCCTCCTTAACCATCATAAGTCCCAA GCTGGCCCCTTTTTCTGCTTTACCAACAGAAAAGCTGTCATCACCCTATA GTCACCAGTGATATACCAGGTCCAAACAAGGTAGCCTTCATTTAGAGAGC TAAAAGAACAAATGATTAATGCTTTTTCTGTTTGGCTGCTTTTGTTTTCT AAGAATGTTCAGTGTTATCTGGTCATTCTTTTGGCTAGGACATCCTTTCT TTATATTGACTCTGGAGCTATTCCTTGTTCCTACTCTGTGTACCCATGAT ACGTCTATATCTTAGCCCTTGAAAGGCATAGAAAAGAGTTTTTTTGTTTT TTTTTTTAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGTG CAATCTCGGCTCACTGCAGCCTCCACATCCTGGGTTCAAGTGATTCTCCT GCCTCAGCCTCCTGAGTAGCTGGGACTATAGGCACGTACCACCATGCCCA GCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGACCAGG CTGGCCTTGAACTCCTGAGCTTGTGATCCACCTACCTCAGCCTCCCAAAG TGCTGGGATTACAGGTGTGAGCCACCGCACCCAGTCAAAAAGAATTCTTC TGAGGGTAATCTCAGTCCCCAAGGGGTGGCCCACTCAACTGATATCCACA GGTACTTAAACTTTTTTGTATAAAGTCAGTGCATAATGTGAGTACCATGT GGATGGATTATAGTAAAACGCAAGTCACAGAAGTTCAAGCCAGGATTGGA TATTTTATATCAGTGGGAGCTTTTGGATTAACGTGAATATGGATTTTTTT TTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGC AATGGCATGATCTTGGCTCACCGCAACCTTTGCCTTCCAGGTTCAAGCGA TTCTCCTGCCTCAGCCTCTCTAGTACCTGGGATTACAGGCACCTGCCACC ATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGCGGTTTCTCCATGTTG GTCACGCTGGTCTGGAACTCCCAACCTCAGGTTATCCTCCCGCCTCTGCC TCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACACCCGGCTTTTTAT TTTTTTGAGACGGAGTTTCGTCGTTGTTGCGCAGGCTGGAGTGCTATGGT GTGATGTCCGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCC TGCCTCACCCTCCTGAGTAGCTTGGATTACAGGCATGTGCCACCACGCCC GGCTAATTTTGTATTTTTAGTAGAGATGGGTTTTCTCCATGTTGGCCAGG CTGGTCTCCAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGTCTGAACATGGATC TTTAAATGACTCAGTGGGGGCAAGAGCAGAAAGTAGTATCCTACCAACCA CTCAGAAAACCAGGCAAGACTCTAGAAAACACAGGGATCCTGGAAAATGT AACAGATGACTCAAAAAGCATGCCTTAACTCTCCAAGGAAATCCACATTT CAACCCTACCAATTAAAAAGAAAGCCTGAACAATTGGAACAGTTGCCTCT ACAGGCAAGGATATCAATCAATCAAAAATGCATCTGCCCACTTGGTGTGA ACAGTGATTTTTTTTTTTGAGACGAAGTCTAGCTCTGTCGCCCAGGCTGG AGTGCGGTGGCGCGATCTTGTCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCGCCCG CCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCAC CATGTAAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCT C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0148 a0001c0001t0004g0149	2	294	0.0068	-2150	c.21 others(11): Show c.2107_*4256del		LIMA1	ENSG00000050405.14	transcript	ENST00000341247.9	protein_coding				2980		chr12	TogoVar
CSMD1_chr8_2930361_4999914	4652883	TAAGAATC others(2142): Show TAAGAATCTAACGCCGCTGCTGATGTGGTGGGGTGGAGTTCAGGTGGTAA TGTGAGTGATAGGGAGTGGCTGGAAATACAAGCAAAGCTTCCCTTGCTCA CCCACTGCTCATCCCCTACTGTGTGGTCCGGTTCCTAACAGGCCACAGAT AGGTACCTGTCCTCAGTCCAGGGCTTGGGGACCCCGCTCTAGAGGATGTG TTTATGAGAGACAGAGCTCCTTGTCTCTTTCCCAGCCACAGATTCAGCCC ATTTAGTAGAAATTTCCAAAGTAGACTCTTAGGTGTTGAGTGATCTGACT GGTCACAGCAGGAGGCAATTTTAGAGATAAAGCAAATGACTTTTCATCTA TACAAATCGGGCTCCTATAAAGGAGTGATTGGATCCACAGACTCCCAAGT AACTGAATTAAGGTGACGATCACTAGGCGCAACCACATTAGAAGTTTAAG TAGACTCAAGTAGGTCATGGCTATCTTTCCGTGCTGCAGTAGAAACATTT TTTTGTTATTACTAAAAATTCTGGTAATTGTTTAATTCACAAGAGTACCT TGTCTGTCATGTTATTTTCCTTTCCAGGCTAAAATTTGCATTTCAAATAA AGGAAAGACTTACAGACACCAGACTTTCTAAAATAGATTTTAGCAACCCA TGCTCAATATCATTTCTACTTGTTTCAAAATGGAAAGTTTTGTGATTTAT GACATGCATTAAAATAGTCCCAGATAACCACCAGTGACAGAGAGTCAACT GCAGCGGGTTCCTGATCTCATTGTGATCCCCAGGAGTTAAGTTGCCCCAG GCTGAAAATAAGCATAACACAAATGGCAGAAAAGGAAATGTTGGAGGAAA ATTGTATTCAAACACATTTGGTTGAAACTCCAAAGTGTAGTAGATATTAT TTTGAATTTGAAGGGAGGCATTTGCAAATAACTAATCTTTATCAAGTGCC ATGCTTTTAGGATTCTGAAGAAGACATGCATTTTTCATAACGTTATTCAT GCAAAATATCTCAGTAGTCTCAGTAGTCATTTTTTTTTAACCAAAGTATA ATATCACAGAGGATATTTTAGGATTGGATTGGTTTCATTTACTCATGATT AGGTTCCATTCAAATATAAAGGTTGGTTGTAAACCTGAATTGACTTCAGA TGTCCAAGTTAAATAATAACTTCTCAAAGCCCCATAATGCCTCAGCAACT TTTTTCTTTCCCGGTGCAAACCAGGGCCGATGTTACACTCCATGTATTTG CTGCAATTTCTATTTCTCAATTGCCTTTTCTGTTGTTTCATCTTTGACCT ACTCTTCTGGAGTAGTCTGGATCTAGTAATCTCAATATGTCTAAAATATG TCTCAGGAATTCAATTTGAACAACAGTTCAGGCAAATCTCAAATGAATAT AGACTTATATGGAAAGGATATAAATGGTTCAGGGATGTATTGCTTTCTAT GCAGACGTAACAACTCCAGCAGTATAATTCCCCTGCTGGGTCTCCACCCC TCTGATGCTCTCTATTCTGGGGAAGTAGAGCAAATTCTTTGCTTGGTGAG TTTGGAAAAGGAAAGTAGGAACTTGGAGCATGAAGCCTTTCTCTCTCCAC CCTGGAAACGAAGTACCAGGCAATGCATATACTTCTTACGTTTGCTGAGA GGCACAGTGGAGTTTAGAGGGGGAGGAATGGAGGGATGTTGGTCTAATCC AGAGTTTTATATTAGGAAGTTCATATGGCTATAGATATCAACTAAAATGG TTGAAGTCAGCTTAGATTGTAATAAGTTTTGGATTTGTTGGGTGCTTTCC AGTGGTCTCACACCTGTGGAAGAGGTGTCTTATTTCTCAATGCATTCATA ATTCAGACAGAGAAGAAAACTTTATTTTTTGGGTCCCTTCTGTGTACACA GGCAGACAACTTTGGAAAGTCATCTTTCACTGGTGAAAATGGAACTCTAT TTTAAAGACAACAAATAATGATTTATTTGGAAAGGGGCAAAGGGTTGAAA AACTACCTATTATACATTATACAATATACCCATGTAACAAACCTGCACAG GTATCCCCCAAATCTAAAACAAAAGTTAGTATTTTTTAAAAGACAACAAA TAACTAACCATTGTTTGAAAATGAGGCCAAGCATTTGATACAGATGTACC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18522.hp2 HG03540.hp2 NA18522.hp2	a0002 a0009 a0002 a0009	a0002c0072 a0009c0113 a0002c0072 a0009c0113	a0002c0072t0003 a0009c0113t0011 a0002c0072t0003 a0009c0113t0011	a0002c0072t0003g0066 a0009c0113t0011g0043 a0002c0072t0003g0066 a0009c0113t0011g0043	2	126	0.0159	-2149	c.86- others(17): Show c.86-17474_86-15326del		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69					chr8	TogoVar
PLPP4_chr10_120452227_120597065	120467142	AATCTCGG others(2142): Show AATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTACCTGGGACTACAGGCACCCGCCACCATGCCTGG CTAATTTTTTTGTAATTTTATTTTTTTTTAAGTAGAGATGGGGTTTCACC ATGTTAGCCAGCATGGTCTCAATCCTCTTACCTCGTGATCTGCCCGCCTC AGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTG TGTAGGTATATTTTAATTGACATCTATCATCACCTTGGTTATAGGAAGGC AGGGAGGTGGAGAAGGAGACACCTACTAGCTACTAAGGAAGAACACTTCA ATGCCTACCATGTGCCACCTTTGTACTAGGCACTTGTCACAGTCATAGGC TTTAATTATGACACCTCTCAGGAGGTAGCGTTGTCCTCATTTACAGAGTT AAGGGTTAATGCTCCCTCATTCAGAGAGCTCTTACCAATTAAAAAGAAAA GAGAAGAGCTCATCAACAGAAAAATAGGCAACAGATACGAGCAGAAAACT AACAAAAGTTCATAAACTGACACACTTTAAATCCGTGATATTTTTATGTT AACTTTTATTTTAAGTTCAGGGGTACATATGCAGGTTTGTTACAGAGGTA AACTCATATTATGGGAGTTTGTTGTACTGATTATTTTGTCACCCAGGTAT CAAGACTAGTACCTGTTAGTCACTTTTCCTGATCCTTTTCCTCCTCCCAC CCACTCACCCGCTTCTAGTAGGCCTCAGTGTCTGTTGTTCTCCTCTATGT GTTCATGTGTTCTTATCTTTCCACTTATAAGTGAGAACATGTGGTACTTG GTTTTCTGTTCCTGCATTATCTTGCTAAGGATAATGACCTCCAGCCCCAT CCATGTTCCTGCAAAGGACATGATCTCATTCTTTGTTGTGGCCGCATAGT AGTTCATGGTGTGTATGTACCACATTTTCTTTATCCGGTCTACCACTGAC GGGCATTTAGGTTGATTCCATGTCTTTGCTATTGTGAATAGTGCTGCAAT GAACATAGTGTGTACGTGTCTTTATTATAGAATGTAAATATGTGATTCCA TAGCAATGCAAGATATGGATCTGAAAACGACAAAATAACAATGAGTATAC ATTAGTAGAAGCTTTTTATGTGCTACAATGAAAGAATGTGCAGCTATTGA AGTTAGTTCTATAGTAGGTAGTTATTTGTTTACTTGAGAAGACATTTATA ACAATTGTTAAGTGATAAAAGCAGATTAGAAAAGTGTGCGTGATGCTATT TTAATGTGGTAATGTAATAAAATCAATTGTGCCTATATCTCTATAAAGAT ACATAATACAGTTTTAACGGTGGTTATTTTGTGCTGATGGGATTATGTAA TATTTGCTTTTTAAATGTTTATGTCTAAATTATTTTATAGTAAGCATTTA TTATTTTCATGCACAATCAAAAAAATCAATATAGATGTTTTCTGTTACAG AACAAAGGAGAGGCCAATGAAATATTCCAGGATAGGGCACTGAATGATTT TTTTGTGTTTGCTTTAGAAATATTTAAAGTGACAATGTGTCAAAATATCA ACCTTTCTACATTTTTTATCAACTAAAATACTTAAGAAAAATCAGAGAGT AAAGATTACTATCCAGAATGTATAAGTTTGTGTTTTCAAATGTGATCGGC TGCTCAGGTGGAATAGTAAATGGGTACAACTGTTTTGAAGAGCAATATTG CAGTACATAAACAGCCATAAAATTATTCCTGCCCTTTGACTTAGAATTCT TGGTAAAAAATACATGGAGGCACTAATGGAAGAGACACCAAAATCCTCAC ATACAAAGATTTTTTTGCTGTGTTCCATACAAAACAAAGTAAATATATTT GTCAAATAAAAATTATTAAAACTCAAATGGTCAACATTTGAAGATGATTT GGTAGATTGTGAACACACAGAATATTATCTAGTTATTGAAAGAATCATTT TGAAAATCATGAAGAAACGTGGTGAAATTTTATGATGTAATAGTTAAGGA AAAGCACTATACAAAAATATACCTCGGAACTGCAACTTTTTTTTTTTTTT TTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03516.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0022 a0001c0002t0028 a0001c0002t0040 a0001c0002t0046 a0001c0002t0048 a0001c0002t0049 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0015 a0001c0003t0031 a0001c0003t0051 a0001c0003t0059 a0001c0004t0009 a0001c0004t0010 a0001c0004t0012 a0001c0004t0038 a0001c0009t0003 a0001c0010t0007	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 others(254): Show a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0171 a0001c0001t0001g0179 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0310 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0002g0116 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0148 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0189 a0001c0001t0002g0194 a0001c0001t0002g0208 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0250 a0001c0001t0002g0273 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0002g0304 a0001c0001t0003g0135 a0001c0001t0003g0172 a0001c0001t0003g0206 a0001c0001t0003g0212 a0001c0001t0003g0264 a0001c0001t0003g0268 a0001c0001t0003g0275 a0001c0001t0004g0006 a0001c0001t0004g0105 a0001c0001t0004g0126 a0001c0001t0004g0166 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0197 a0001c0001t0004g0236 a0001c0001t0005g0109 a0001c0001t0005g0156 a0001c0001t0005g0170 a0001c0001t0005g0173 a0001c0001t0005g0186 a0001c0001t0005g0237 a0001c0001t0005g0260 a0001c0001t0005g0266 a0001c0001t0005g0286 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0303 a0001c0001t0005g0306 a0001c0001t0005g0317 a0001c0001t0006g0074 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0007g0133 a0001c0001t0007g0143 a0001c0001t0007g0177 a0001c0001t0007g0243 a0001c0001t0007g0247 a0001c0001t0007g0262 a0001c0001t0007g0298 a0001c0001t0007g0302 a0001c0001t0007g0323 a0001c0001t0008g0114 a0001c0001t0008g0121 a0001c0001t0008g0150 a0001c0001t0008g0151 a0001c0001t0008g0164 a0001c0001t0008g0165 a0001c0001t0008g0167 a0001c0001t0008g0169 a0001c0001t0008g0280 a0001c0001t0008g0283 a0001c0001t0008g0294 a0001c0001t0008g0313 a0001c0001t0008g0316 a0001c0001t0010g0012 a0001c0001t0013g0113 a0001c0001t0013g0145 a0001c0001t0013g0146 a0001c0001t0013g0147 a0001c0001t0013g0162 a0001c0001t0013g0204 a0001c0001t0013g0308 a0001c0001t0014g0220 a0001c0001t0014g0221 a0001c0001t0014g0223 a0001c0001t0014g0224 a0001c0001t0014g0226 a0001c0001t0014g0227 a0001c0001t0014g0228 a0001c0001t0016g0072 a0001c0001t0016g0218 a0001c0001t0017g0214 a0001c0001t0017g0222 a0001c0001t0018g0140 a0001c0001t0018g0182 a0001c0001t0018g0187 a0001c0001t0018g0295 a0001c0001t0019g0307 a0001c0001t0020g0112 a0001c0001t0020g0131 a0001c0001t0020g0193 a0001c0001t0020g0291 a0001c0001t0023g0125 a0001c0001t0023g0154 a0001c0001t0023g0241 a0001c0001t0024g0202 a0001c0001t0025g0201 a0001c0001t0026g0196 a0001c0001t0026g0271 a0001c0001t0026g0272 a0001c0001t0027g0213 a0001c0001t0027g0229 a0001c0001t0030g0321 a0001c0001t0033g0104 a0001c0001t0033g0231 a0001c0001t0034g0215 a0001c0001t0035g0225 a0001c0001t0036g0219 a0001c0001t0050g0188 a0001c0001t0052g0315 a0001c0001t0053g0082 a0001c0001t0054g0285 a0001c0001t0055g0318 a0001c0001t0057g0309 a0001c0001t0058g0178 a0001c0001t0060g0095 a0001c0002t0006g0031 a0001c0002t0006g0033 a0001c0002t0006g0034 a0001c0002t0006g0036 a0001c0002t0006g0046 a0001c0002t0006g0047 a0001c0002t0006g0052 a0001c0002t0006g0064 a0001c0002t0006g0065 a0001c0002t0006g0066 a0001c0002t0009g0026 a0001c0002t0009g0037 a0001c0002t0010g0067 a0001c0002t0011g0024 a0001c0002t0011g0027 a0001c0002t0011g0030 a0001c0002t0011g0032 a0001c0002t0011g0038 a0001c0002t0011g0048 a0001c0002t0011g0097 a0001c0002t0012g0021 a0001c0002t0012g0022 a0001c0002t0012g0023 a0001c0002t0012g0025 a0001c0002t0012g0044 a0001c0002t0012g0045 a0001c0002t0012g0081 a0001c0002t0022g0019 a0001c0002t0028g0042 a0001c0002t0040g0053 a0001c0002t0046g0035 a0001c0002t0048g0070 a0001c0002t0049g0049 a0001c0003t0001g0163 a0001c0003t0001g0267 a0001c0003t0003g0107 a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0160 a0001c0003t0003g0211 a0001c0003t0003g0265 a0001c0003t0003g0274 a0001c0003t0003g0282 a0001c0003t0003g0292 a0001c0003t0003g0293 a0001c0003t0003g0312 a0001c0003t0004g0099 a0001c0003t0004g0119 a0001c0003t0004g0124 a0001c0003t0004g0127 a0001c0003t0004g0138 a0001c0003t0004g0152 a0001c0003t0004g0183 a0001c0003t0004g0205 a0001c0003t0004g0207 a0001c0003t0004g0301 a0001c0003t0004g0314 a0001c0003t0007g0091 a0001c0003t0015g0111 a0001c0003t0015g0192 a0001c0003t0015g0269 a0001c0003t0015g0270 a0001c0003t0015g0311 a0001c0003t0031g0209 a0001c0003t0031g0210 a0001c0003t0051g0288 a0001c0003t0059g0281 a0001c0004t0009g0001 a0001c0004t0009g0028 a0001c0004t0009g0029 a0001c0004t0009g0043 a0001c0004t0009g0068 a0001c0004t0010g0039 a0001c0004t0010g0040 a0001c0004t0010g0041 a0001c0004t0010g0050 a0001c0004t0010g0051 a0001c0004t0010g0230 a0001c0004t0012g0007 a0001c0004t0038g0020 a0001c0009t0003g0305 a0001c0010t0007g0122	257	328	0.7835	-2149	c.56+ others(16): Show c.56+9787_56+11935del		PLPP4	ENSG00000203805.11	transcript	ENST00000398250.6	protein_coding	1/6				INFO_REALIGN_3_PRIME	chr10	TogoVar
PLPP4_chr10_120452227_120597065	120467165	GCCTCCCA others(2142): Show GCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTACCTGGG ACTACAGGCACCCGCCACCATGCCTGGCTAATTTTTTTGTAATTTTATTT TTTTTTAAGTAGAGATGGGGTTTCACCATGTTAGCCAGCATGGTCTCAAT CCTCTTACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTGTGTAGGTATATTTTAATTGACAT CTATCATCACCTTGGTTATAGGAAGGCAGGGAGGTGGAGAAGGAGACACC TACTAGCTACTAAGGAAGAACACTTCAATGCCTACCATGTGCCACCTTTG TACTAGGCACTTGTCACAGTCATAGGCTTTAATTATGACACCTCTCAGGA GGTAGCGTTGTCCTCATTTACAGAGTTAAGGGTTAATGCTCCCTCATTCA GAGAGCTCTTACCAATTAAAAAGAAAAGAGAAGAGCTCATCAACAGAAAA ATAGGCAACAGATACGAGCAGAAAACTAACAAAAGTTCATAAACTGACAC ACTTTAAATCCGTGATATTTTTATGTTAACTTTTATTTTAAGTTCAGGGG TACATATGCAGGTTTGTTACAGAGGTAAACTCATATTATGGGAGTTTGTT GTACTGATTATTTTGTCACCCAGGTATCAAGACTAGTACCTGTTAGTCAC TTTTCCTGATCCTTTTCCTCCTCCCACCCACTCACCCGCTTCTAGTAGGC CTCAGTGTCTGTTGTTCTCCTCTATGTGTTCATGTGTTCTTATCTTTCCA CTTATAAGTGAGAACATGTGGTACTTGGTTTTCTGTTCCTGCATTATCTT GCTAAGGATAATGACCTCCAGCCCCATCCATGTTCCTGCAAAGGACATGA TCTCATTCTTTGTTGTGGCCGCATAGTAGTTCATGGTGTGTATGTACCAC ATTTTCTTTATCCGGTCTACCACTGACGGGCATTTAGGTTGATTCCATGT CTTTGCTATTGTGAATAGTGCTGCAATGAACATAGTGTGTACGTGTCTTT ATTATAGAATGTAAATATGTGATTCCATAGCAATGCAAGATATGGATCTG AAAACGACAAAATAACAATGAGTATACATTAGTAGAAGCTTTTTATGTGC TACAATGAAAGAATGTGCAGCTATTGAAGTTAGTTCTATAGTAGGTAGTT ATTTGTTTACTTGAGAAGACATTTATAACAATTGTTAAGTGATAAAAGCA GATTAGAAAAGTGTGCGTGATGCTATTTTAATGTGGTAATGTAATAAAAT CAATTGTGCCTATATCTCTATAAAGATACATAATACAGTTTTAACGGTGG TTATTTTGTGCTGATGGGATTATGTAATATTTGCTTTTTAAATGTTTATG TCTAAATTATTTTATAGTAAGCATTTATTATTTTCATGCACAATCAAAAA AATCAATATAGATGTTTTCTGTTACAGAACAAAGGAGAGGCCAATGAAAT ATTCCAGGATAGGGCACTGAATGATTTTTTTGTGTTTGCTTTAGAAATAT TTAAAGTGACAATGTGTCAAAATATCAACCTTTCTACATTTTTTATCAAC TAAAATACTTAAGAAAAATCAGAGAGTAAAGATTACTATCCAGAATGTAT AAGTTTGTGTTTTCAAATGTGATCGGCTGCTCAGGTGGAATAGTAAATGG GTACAACTGTTTTGAAGAGCAATATTGCAGTACATAAACAGCCATAAAAT TATTCCTGCCCTTTGACTTAGAATTCTTGGTAAAAAATACATGGAGGCAC TAATGGAAGAGACACCAAAATCCTCACATACAAAGATTTTTTTGCTGTGT TCCATACAAAACAAAGTAAATATATTTGTCAAATAAAAATTATTAAAACT CAAATGGTCAACATTTGAAGATGATTTGGTAGATTGTGAACACACAGAAT ATTATCTAGTTATTGAAAGAATCATTTTGAAAATCATGAAGAAACGTGGT GAAATTTTATGATGTAATAGTTAAGGAAAAGCACTATACAAAAATATACC TCGGAACTGCAACTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTG TCACCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTGCAAGCTCCA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0249 a0001c0003t0004g0249	1	328	0.0031	-2149	c.56+ others(16): Show c.56+9819_56+11967del		PLPP4	ENSG00000203805.11	transcript	ENST00000398250.6	protein_coding	1/6				INFO_REALIGN_3_PRIME	chr10	TogoVar
KDM4B_chr19_4964113_5158598	4974059	CCACTGCA others(2141): Show CCACTGCACTCCAGCCTGGGTGACAGGGCAAGACTCCGTCTCAAAAAAAT AAATAAGTGGCCGGGCGCAGTGGCTCACGCCTGTAAAGCCAGCACTTTGG GAGCCAAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCT AACACCGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAAATTACCCGGG CATGGTGGTGGCCGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGTGTGAACCCGAGAGGCGGAGCTTGCAGTGAGTTGAGATCGC GCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAATA AATAAATAAGTAAGTAAGTAAGTAAATAAATACATAAAATAAAAAACTGG CCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGG CGGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAG TGAAATCCCATCTCTACAAAAATACAAAAATCAGCCGGGCATGGTGGTGG GCGCCTGTAGTCCCAGCTACTCGGGATGTGGGGGCACGAGAATCTCTGGA ACCTGGGAGGCAGAGGCTGCAGTGAGCCAAGATCACACCACTGCACTCCA GTCTGGGAGACAGAGCGAGACTCTGTCTCCAAAAAAAAAAAAAAGAAGGT AGTCAAAGGAGTAAAAACCAAAACAAACAAACAAACAAAAGATTTTCCCC TGCTCAGAACCTTCCGGTGACTTCCTGTTGCCCTTGGGAAAAATTCTGGG CCCTTTCGCGTGGCCCCTTCGCTCTGTCATCTGTGGCCTTGTCCTTCCTT CCTTTCCTCCCTTTCTTCCTCCTGCACCTGCTCCTTTCCTGGCACAGCCG CCTTCCCTGCCCGCCCTTCCCTGCCGCAGGACCTGTGCACTTGCTGTGCC CGCTGCCTGGTTCTCTTTCCACCCAGCCGGCTCCTTATCACTCTAGTCAC TTCCCTTCCCTACTTCTCCTCCTTTGCATGTCACACGATCAGAGCTGGGT ATTAGTCTGTTTGTGTATCTGTTTGTCTCATCTACTAGGGCAGGGGCTTT TTCTGGAAGGGCCGGAGAATAAATATTTTTGGCTTTGTAAGCCAGAGGTC ATCTCTGTCCAGACCACTCTGCTTTGCCGTTGTAGCAAGAAAGCTCCCGT GGGCGAGTGTGCCTGTGTTTCAGTAAAACTTTATTTATGGACACAAACGT GAATTCCGTGCAATTTTTACATTATAAGACATTTTTCTTCTTTTGCTTTT TTTTTCCTCCAACGACTAAAAAATGTCAAAACCATTCTTAGACTGCAGGC TGTACAAAAACAGGTGGCGGGCAGGATTGAACCTGTGGGTTGTAGTTTGC AAATACCTGGCTAGGGTGTGAGGGCCACACTACGGAAAGCTATGGAAACC ATGTCAGCCTCACGACCCCTAGAATGTACGGCAGCTCCTTAGACGTGGTG GGTGTTGAGTGGACATTCCTTGTTGAGTGAATGAATTTTTTTTTTTTTTT TTGAGACAGAGTTTTGCTCTGTGGCCCAGGCTGGGGCGCAGTGGGCTGAT CTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCGATTCTCCTACTT CAGCCTCTTGAGTAGCTGGGATTACAGGTGCATGCCACCACGCTCGACTA ATTTTTGTATTTTTAGTAGAGATGGGATTGCGCCATGTTGGCCAGGCTGG TCTCCAACTCCTGACCTCAGGGCATCCGCCTGTCTTGGCCTCCCAAAGTG CTGGGATTACAGGCGTGACCCACCGTGCCCAGCCTGAGTGTGAATTTGTA TCTTCCTAACTTCAAAGCATTTAGAGTCATATTCTAGCCTTAAAAAAAAA ATGGGGCATGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG AGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCATCCT GACCAATATGGAGAAATCCTGTCTCTACTAAAAATACAAAATTAGTTGGG CGTGGTGGTGTATGCCTGTAATCCCAGCTTGTTGGGAGGCTGAGGCAGGA GAATCGCTTGAACCCTGGAGGCAGGGGTTGCAGTGAGCTGAGATCACGT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18954.hp1 NA18944.hp2 NA18954.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0033 a0001c0001 a0005c0033	a0001c0001t0001 a0005c0033t0001 a0001c0001t0001 a0005c0033t0001	a0001c0001t0001g0184 a0005c0033t0001g0183 a0001c0001t0001g0184 a0005c0033t0001g0183	2	270	0.0074	-2148	c.-10 others(19): Show c.-109+4849_-109+6996del		KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	1/22				INFO_REALIGN_3_PRIME	chr19	TogoVar
NTSR1_chr20_62703836_62767771	62741271	GGCTTCTG others(2141): Show GGCTTCTGTTCTGCCAAGTCCCCACTCAGACAATGGCCTCTATAGCTCCA GCAATCAGGAGGGAAAAGATTCCAACTCCCACACTCAGGGCTCCCTGCTG CCTGGAAGAGGAGAGGAGGGCAAACCTCTTGCAGAGGTGACGGGTGACTC ACCAGCCCCGCTCAGAGGACGGGTCTGCAGGTGGCCAGAGTTCTCCTGAT GGGGTCCTTGCCCCCAGCTGGCTTGGGGGTCCCTACACCGGCCCCCTGCC CCACACCATGTTCCTCCCACCCCATGTCTGTGCGCCCCTTCGAGCATGCC TGGGCATTGTCCATGGTACTGAACCCCTGAGGCTCCCTGGGGCTCTGGCA TTCTCTTGAGCCTTTCCCAGAAATTCCAAACCAGAAGAAAAGTGCAGGGA ACAGAGTGGAGGAGCCATGGACAGAGGCTGTGGGGCAGGCTCAGTCCCTG AGAGGTCGCCAAGGAGCCACAGCCTTGGACTAGATGCTCTCAAAACCTGG CAATGGCCCACAGAAGGCATCTGCTCAGGTGAGGTACATGCCACAAAGCT TCACCAGTGGGGATGAGGATCTGCTCATAGGATGGCCCCTGATGGAGGAA GTGGGAGCTCAGGCTGTGGGATCAGGCCCCTGGGTTCACAACTGTGCCTG GGTTTCTTTATCTACAAAAGGAGCCTGACAGGAGCCTCTGCCTCACAGAT GAGACCTGTGTGCCTGAGGTGGTGCACACAGAGTATGTGTAGACCCCAGG ACAGTCGATGTCAGCTAGAAAGTGAAGGTTAGAGGAATTCAAACCGTTAT TTTTAATACTGAGCCAAAACCTGCACATCAGAGCTCTCTGATGGAGGCGT GGACGGGGTCGTGAGGGGCCAAGTACTAGCCAGAAGCTGCGCCGTCCATT TCATCCCCTCCCCACAGTGGTCCCACAGACACCGAGGTGGCTGACATGGC CCCTCCAGGTCACACGCCTGTTCTCTCTCCAGTCCTGCCCTCAGGGACTC AGAAATGCTGGCGTTCCAGGAGGTGGTGTGTGGGCTCCTCCTCAGGCCAG GTCTGTGGTCACTGCTGACCACGCGGCAATGTACGGCTTTCCAGGCCCCC ATCCACCATGAGTCAGGCGTGTCCCCACTGGGCAGCAAGTCCCACAGCTT TGCATTCCAGATCCCAGCAGCATCTCGAGCCGGGCCTGGTACTGCTTAGA TGCCTGGGAGGGAGGACCGAGGAAAGAGACTGGGGACTGAGGGACAGCAC AGTATCCCAAGCTGGCCACTACCAGAACCTTCTAGAACAAGGTCACACTG GCAGTTCTTTATGCCTTCCGTCCTCTGCTCCCCAGACACCTGTTTACACA GGGCCCTAGGTCTCAGGTGTCCTGTGGGTGGCCGCTGCTTTTCCCTGGGT CCCTCCATGGTGTCTCCTCTGAGGACAGCCACTGGTCAGAGCCTCCTGGA TGACCTCACTCCTGGAAAGCGCTGGGCTGTGTCACCTTAAAGACCCCTTT GCTCTCTTGGCCCTGGCACCCCACCTCTGGCATGGGGAGCAGAGACCCAC CAGGGTTCCCATCCCTCTCCCCGCAGTGTTTCCCCAGTTCCAGGGCTGTG AGGTGGTCACAGTGGCTCTGGTGTGGCCGTGGGGTTCCTGTTCATCCCAG GGCACCTGTCACGGGACATACCCACAGCACAGGCAAGTGGAACGTTCTCT GAGTTTAGCTTTGTTTGTGTAGGTAGTTCACTGTGGGAGTCTAGCTTTTG GGGGACACACCTGAGACCCTCCCAGCTACCCTGCCCTCTCCCCAGATCAG CTCGGTAGGCTCCAATCCAGAGAGTCAGGCTGGGAGGGGAGCACGGAGCC GCCCCTGCTGGACACGTATCCCGGCCATCTCAGGCCCACCCATTGCCTCA TTGCTCCCTGCCCCCGGTCCAGTCAGCTGAGTGCCCCGTGGTGTGGGTGC GTCATGCCATGGCGACCAGCCCCAAAGGGTGAGCCTTTGAGTTGTTCACC AATCATTGGGGTTTCGAACAAGCCTGTGCTGACGGCCCTGGCACACAGGG TTTCTGAATTAACTCTGCCATCGTTCCTGGCCTCAGCTGTGGTGGGGAAG GCAGTTCGGGGTCATGAGAACCCTGAGGGTTGCTCCCAAGTCAGTGTTT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01109.hp1 HG01167.hp2 others(44): Show HG00673.hp1 HG01109.hp1 HG01167.hp2 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02523.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp1 HG02922.hp1 HG03041.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 NA18612.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp2 NA18971.hp1 NA18973.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA19002.hp1 NA19002.hp2 NA19012.hp2 NA19063.hp2 NA19084.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0027 a0001c0001t0036 a0001c0001t0037 a0001c0001t0047 a0001c0001t0049 a0001c0001t0059	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0094 others(41): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0143 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0003g0061 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0004g0031 a0001c0001t0005g0262 a0001c0001t0011g0178 a0001c0001t0015g0179 a0001c0001t0020g0206 a0001c0001t0020g0207 a0001c0001t0021g0079 a0001c0001t0022g0197 a0001c0001t0026g0124 a0001c0001t0027g0135 a0001c0001t0036g0198 a0001c0001t0037g0105 a0001c0001t0047g0229 a0001c0001t0049g0052 a0001c0001t0059g0231	47	316	0.1487	-2148	c.715 others(19): Show c.715-13410_715-11263del		NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	1/3				INFO_REALIGN_3_PRIME	chr20	TogoVar
PRAMEF5_chr1_13249198_13268435	13255550	ATCTCACA others(2139): Show ATCTCACACTCAGGACTGTGAAGGACACATATTAATAAAACCCCATTTTG TTTGTGAAGGGAATCAGTGAATGAGTCCTGGGCTTCCACCCCATCCCTAA ATCTTTCACTTTGATGGGTGAATATCTAATTCCATCAGTAAATCTGGAAG AAAGCCAAAAATCCAATCAGGATTAACTGGGTAAATTCGAATCAAATCTA GCTCTCTCTCTCTCCTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAATCTAGCCTATTTCCCAGGCTGGAGTTCAGTGGTGTATTGT CAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATCTTCCTGTCTCA GCCTCCCTAGTAGCTTGGACTATAGGCGCAGACCACCGCAACTGGCTAAT TTTTGTAATTTTAGTAGAGGTAGGGTTTTACCATGTTGGCCAGGCTTGTC TCAAACTCCTGACCTCAGATAATCCACCTACCTCTGCGTCCCAGAGTGCT GGGATTACAGGTGTGAGCCACTTCGTCTGGCCTTGAATGAATGTATTCTT GACTTCTACCCTATCCCTAACACTGTCGATTTCTTGCTTCATGAAGTGAA TATAGATATGTGATATGAATGGACATCTGATTCAATCCGGTAATCTGGGG AGAGCCAAAAACCCAATCAGGATTAACTGGGTGGAGCTTCACAAATGCAA TCAGATATCATTTTTTGATTGGAAGGTAGCAGCGGATATGTGCAGGGGCG TGGGTGGGAGTTGTGATTAGAAAGGTCAATAAAAGCTTCTAAAGACCCAC AGGAGAGACCCAAAGTCTTCAAGCCTAGAGTTCCTGCTTGGTTCTTCCTG AGGACTGAGCACCTTCTAGACTACATCCAGATCTGGTAAGTCACTAATTT CTGTAAGGACACTCCCATCTGACCTACAGTCAGTCGGTCTGGGGTGGTGA CAGTACAGCCTACGATGGCACAGAGCTATATCCTGTCCTTTTTTTTTTTC ATATGAACAATTTGAAGCTTTGAATGTTTTCCTCTAAATGCAGTTCTGTC TTTATTTCAAAAAAGTTGATTGTGCTTTGGTTGATGCCATTTTAAAATTC TTGAAGGGAGCAATAACTCATGCCTTTAACCCCAACACTTTGGGAGGCCA AAGTGGGAGGATCATTTCAGCCCAGGGGTTTGAGACCAACCTGGGCAACA TGACAAAAGCCCTCCTCTACACAACGTTTTTTTTTTTTGAGGGTGGGGAT GGAGTCTCACTGTGTTGCCCAGACTGGAGTGCAGTGGCACGATCTCAAAT CACTGCAACCTTTACCTCCCGGGTTCAAGCAATTCTCATGCCTCAGTCTC CATCCTCAGAAGCTGGTGTCACAGACATCTGAAACCATGCCTGGCTAATT TTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGCTGGCCAGGTTGGTCT CGAACACCTGACCTCAAGTGATCCACCTGCCTTGGCCTTCCAAAGTGCTG GGATTACAGCTGTGAGTCACTGGTGCTTGGCCTCTACTTTTTTTTTTTTA AATTAGCCGAGCATGGTGACATGCATCTGTAGTCCCAGCTATTTGGGTGT CTGGTGTGGGAGAATCACTTGAGACCAGAAGATTGAGGCTGCAGTGAGCC ATGCTCATACCACTCCTGTACTCCAGCCTGGGCAAAAGAGAGACACCCTG TCCAAAAAACAAAAACAAAATCAATCAAAAAGGATCTTTGACCTTAATTT TAAACCAATCACATCCTCTTCCACCCAAATGGAGACATGGCTGCAGGGGG TGCATGCCTGTAGTCCCAGCTATGTGGAAGGCTGAAGCATGAGAATTGCT TGAATCTTGGAGGCCGAGGCAACAGTGAGCCGAAATGACACCACTGCACT CTAGCCTGGCCGATGAAGTGAGATTCAGCTCCCTCAACACCAAAAAGACT TATGCCACCTAGGTGATCATTGGATATATGAAGATTTCTATTGTGTTTTC TTAGGGACTGTCATCTCTGTCTCTGAAAACTGTTTTAACCCTGAAATATT TTGATAAACTTGGCATGGCCAAGGATCCCTCAACAAAGATACTTTCAAGT TTTCTTTCTTTCTGTCTAATATCAGGAAGAGGTTCAACCCTTCCCTG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG03669.hp1 NA19089.hp1 others(1): Show HG00597.hp1 HG03669.hp1 NA19089.hp1 NA19089.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0006 a0010c0009t0006	a0010c0009t0006g0080 a0010c0009t0006g0081 a0010c0009t0006g0082 others(1): Show a0010c0009t0006g0080 a0010c0009t0006g0081 a0010c0009t0006g0082 a0010c0009t0006g0083	4	142	0.0282	-2146	c.-23 others(17): Show c.-23+1292_-22-1535del		PRAMEF5	ENSG00000270601.5	transcript	ENST00000622421.3	protein_coding	1/3				INFO_REALIGN_3_PRIME	chr1	TogoVar
PRAMEF5_chr1_13249198_13268435	13255470	GTGGCCGA others(2137): Show GTGGCCGAGGATCCCTCAACAAAGATACTTTCAAGTTTTTTCTTTCTGTC TAATATCAGGAAGAGATTCAACCCTTCCCTATCTCACACTCAGGACTGTG AAGGACACATATTAATAAAACCCCATTTTGTTTGTGAAGGGAATCAGTGA ATGAGTCCTGGGCTTCCACCCCATCCCTAAATCTTTCACTTTGATGGGTG AATATCTAATTCCATCAGTAAATCTGGAAGAAAGCCAAAAATCCAATCAG GATTAACTGGGTAAATTCGAATCAAATCTAGCTCTCTCTCTCTCCTTTTT CTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAATCTAGCCTAT TTCCCAGGCTGGAGTTCAGTGGTGTATTGTCAGCTCACTGCAACCTCTGC CTCCTGGGTTCAAGCGATCTTCCTGTCTCAGCCTCCCTAGTAGCTTGGAC TATAGGCGCAGACCACCGCAACTGGCTAATTTTTGTAATTTTAGTAGAGG TAGGGTTTTACCATGTTGGCCAGGCTTGTCTCAAACTCCTGACCTCAGAT AATCCACCTACCTCTGCGTCCCAGAGTGCTGGGATTACAGGTGTGAGCCA CTTCGTCTGGCCTTGAATGAATGTATTCTTGACTTCTACCCTATCCCTAA CACTGTCGATTTCTTGCTTCATGAAGTGAATATAGATATGTGATATGAAT GGACATCTGATTCAATCCGGTAATCTGGGGAGAGCCAAAAACCCAATCAG GATTAACTGGGTGGAGCTTCACAAATGCAATCAGATATCATTTTTTGATT GGAAGGTAGCAGCGGATATGTGCAGGGGCGTGGGTGGGAGTTGTGATTAG AAAGGTCAATAAAAGCTTCTAAAGACCCACAGGAGAGACCCAAAGTCTTC AAGCCTAGAGTTCCTGCTTGGTTCTTCCTGAGGACTGAGCACCTTCTAGA CTACATCCAGATCTGGTAAGTCACTAATTTCTGTAAGGACACTCCCATCT GACCTACAGTCAGTCGGTCTGGGGTGGTGACAGTACAGCCTACGATGGCA CAGAGCTATATCCTGTCCTTTTTTTTTTTCATATGAACAATTTGAAGCTT TGAATGTTTTCCTCTAAATGCAGTTCTGTCTTTATTTCAAAAAAGTTGAT TGTGCTTTGGTTGATGCCATTTTAAAATTCTTGAAGGGAGCAATAACTCA TGCCTTTAACCCCAACACTTTGGGAGGCCAAAGTGGGAGGATCATTTCAG CCCAGGGGTTTGAGACCAACCTGGGCAACATGACAAAAGCCCTCCTCTAC ACAACGTTTTTTTTTTTTGAGGGTGGGGATGGAGTCTCACTGTGTTGCCC AGACTGGAGTGCAGTGGCACGATCTCAAATCACTGCAACCTTTACCTCCC GGGTTCAAGCAATTCTCATGCCTCAGTCTCCATCCTCAGAAGCTGGTGTC ACAGACATCTGAAACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGGT GGGGTTTCACCATGCTGGCCAGGTTGGTCTCGAACACCTGACCTCAAGTG ATCCACCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGCTGTGAGTCAC TGGTGCTTGGCCTCTACTTTTTTTTTTTTAAATTAGCCGAGCATGGTGAC ATGCATCTGTAGTCCCAGCTATTTGGGTGTCTGGTGTGGGAGAATCACTT GAGACCAGAAGATTGAGGCTGCAGTGAGCCATGCTCATACCACTCCTGTA CTCCAGCCTGGGCAAAAGAGAGACACCCTGTCCAAAAAACAAAAACAAAA TCAATCAAAAAGGATCTTTGACCTTAATTTTAAACCAATCACATCCTCTT CCACCCAAATGGAGACATGGCTGCAGGGGGTGCATGCCTGTAGTCCCAGC TATGTGGAAGGCTGAAGCATGAGAATTGCTTGAATCTTGGAGGCCGAGGC AACAGTGAGCCGAAATGACACCACTGCACTCTAGCCTGGCCGATGAAGTG AGATTCAGCTCCCTCAACACCAAAAAGACTTATGCCACCTAGGTGATCAT TGGATATATGAAGATTTCTATTGTGTTTTCTTAGGGACTGTCATCTCTGT CTCTGAAAACTGTTTTAACCCTGAAATATTTTGATAAACTTGGCA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0006 a0015c0014t0006	a0015c0014t0006g0084 a0015c0014t0006g0084	1	142	0.0070	-2144	c.-23 others(17): Show c.-23+1201_-22-1628del		PRAMEF5	ENSG00000270601.5	transcript	ENST00000622421.3	protein_coding	1/3				INFO_REALIGN_3_PRIME	chr1	TogoVar
RPH3AL_chr17_207389_357807	253850	CGTCTGTC others(2137): Show CGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTA TGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACT ACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCG TCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATG GCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCT ATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGAC TACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCC ATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCAT GGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCC TATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGA CTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTGTTC CATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCA CGGCGTCTGTCCTTTTCCGTCCCTAGGAATATGACTACCCTACGTACTTC CTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTG ACTACCCAACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTT CCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGC ACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTT CCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGT GACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTT TCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCG CACGGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCTACGTACT TCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACG TGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTT TTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCT GCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTAC TTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTTCCATCCCTAGGAAC GTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCT TTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGC TGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CTGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCAACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACG TACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTGTTCCATCCCTAGG AATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGG AGCCGCACGGCGTCTGTCCTGTTCCGTCCCTAGGAATGTGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAG GAATATGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0095 a0001c0001t0006g0095	1	133	0.0075	-2144	c.439 others(17): Show c.439-8709_439-6566del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9					chr17	TogoVar
BCL7A_chr12_122016884_122067044	122045131	AGCACTTT others(2136): Show AGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCAA GACCAGCCTGGCCAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAA ATTAGCAGAGTGTGGTGGCATGTGCCTGTAATTCCAGCTAGTCAGGAGGC TGAGGCAAGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCG AAATTGTGCCATTGCACTCCAGTCTGGGCGATAGAGCAAGACTCTGTCTC AGAAAAATTTTAAAAAGTTAATAATAATACGGGGTCAGACAGCAGGCAGC GCCTCAGGTGTGGGGGGCTCGTAAGGCCACTGCCTGGCCTGGGTTTTCAT GGTAAGACGGGAGCCACTGGGGGCTTGGGTGACATGATCTGAAGGATTAA GAACAGATGATGGGGTGATTGTGTGAGAGTGTGTGTGTGATTGTGTGAAT GTGTACACAAATATTTGTGTGTGTTTATTTTGAGTCTCTACAGAAAAATT AAAAGAATGGCATAATACTGTCCTATATATCCACCTGCTGAACTTGGCAA TTGTTGGCTTTTGGGTTTCTTTTGCTTTGTATTTTTTCTGGGACCATTTG AAAGTAAGTTATAGATCTCAGGACATTTCATCCCTAAACATGTCAGCACG TGTCTTTTAAAAATAAAGACATTCTGGGCTGGGCACAGTAGCTTATGCTT ATAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCTTTTGAGCCCAG GAGTTCAAGACCACCCTAGGCAAGAAGACGAAACCCCGTCTCTACAAAAA ATATAAAAATGAGCCCGGCATGGTGGCATGCGCCTGTAGTCCCAGGAGGA TCGACTGAACCTGAGAGGTCGAGGCTGCAGTGAGCCATGATTGCACCACT CCAGCCTGGGTAACAGGGTGAGACCTTGCTAAAAAAAAAAAAAAAAAAAA AAAGGCATTCTCTTACAGATTTACAAATACCGTTACTGCATCTAAGAAAA TGAGCAGCATTCCGGATGGTCTAACATGGAGGTATATTTTGAAGGTGAGG GGAGAGCCTGTGTTGGGCAGTACATAGGGGTGAGTGCGGACCTGAGGGCA ACTCTGGGCACCTGGAGGGACAGCAGTGGCTGAGCGGGTCTGGGGAGGGC AGGCCAGGTCTGGAGCGCCTTGCACACCCATGAGGAGCTGGCGAGCATGG AATGTGGAATGGCAAATGTGACCAGCCTGCAGCTAGGGCCACCCCAGGGC TCAGGGCGTGTGTGTCCTGGGAGCAGCCAGTGTGGTTCTAGGAGAAAGGC TGTCCCCTGCTGCAGAGCTGATCCGCACCCCTGTGCAAGGAGGCTCTGGG CTGGCGCCAGGGCCCCAGTCATAGCTGCACTCTGCTTCCTGCACCCCAAG AACCCATAGGTCAGCAGGGGAGACAGACACTGGAACGAAGGACTCATTGG CAGAGATGCAGACAGACTCTATCCAGCCCGTGGTGTGAGAATCTGGCTAT ACAGAACCCTGCAGTATCATTTTTTAAATTTGAATGTGATGTCAAAATTT AAAAATTGAGCTTAAAACAGGATTGATTTCTAGCTTCTTTTGAAGAATCA GCTTTGACAATACCGGGCCTGCTCTTCCCTGGGGCAGTTACCAGCTGAAG CAGAAGAGACCCTTCCCTGTTGTCTCTAAACCAAGGCCAAAGGGCGCTTG CCTTGTGTTACCTCATGGCCACTGTTGTTTTTCTTATTGTAGATTTTAAA AGGAAAATTAAGATATTTCTTGGGTTTTTTTTTTTTTTTTCCAGACGGAG TCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGACGTGATCTCGGCTCACT GCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGACTCGTGA GTAGCTGGGTTTACAGGCGTGCACCACCACGCCCGGCTAATTTTTGTATT TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAATCTCC TGACCTCGGGATCCACCCACCTCGGCCTCCTAAAGTGCTGGGATTACAGG TGTGAACCACCACGCCTGGACTATTTCTTGGTTTTTGTTTGTTTGTTTGA AATGGGGTCTTGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCC	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG04184.hp1 HG02698.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0020 a0001c0001t0014 a0001c0001t0020	a0001c0001t0014g0255 a0001c0001t0020g0185 a0001c0001t0014g0255 a0001c0001t0020g0185	2	362	0.0055	-2143	c.439 others(17): Show c.439+1093_439+3235del		BCL7A	ENSG00000110987.9	transcript	ENST00000261822.5	protein_coding	4/5				INFO_REALIGN_3_PRIME	chr12	TogoVar
TMED8_chr14_77330029_77382094	77349370	TGCCTCCC others(2136): Show TGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTCGCCCAGCCCT AAGGCCCTTTGCACTCTGACCTCACCTCTCAGAATCCTCACTCTGCCCTG GTCCCTCCAGCCACAACAGCCTCTTCAATCCTTGATAGTCCTCAAACACC CCAAGTACTCTCCCACTTGAGAGCTTTTGCATTTGCTGTAATCTCTGCCT AGAATACTCTTCTAGGACATTAACTCTTCTTTAGTTAACTGAAGACTTCC TTCCTGCAGGTTTTCTGCTGAGAGGTTTCTCAGAGGTCTGTATATAAAAT GTGTGCCCCTTCCTGGCCTTGTCACTGTTTCTGCCCTTACCCAGCTTCAT TTTTCTTCACTGCACCTATTACTGCCTGACATGATATGGAGCATATTTTG TTGATTGCAAGATGCACACTGGCTTTTAGATTTTAACACAACTGAAAGAT AGGATGTCTTAAAAATTGATGATATCTTAAAAGTGCCGTGGGCCTGGATT GACATCAACTCTTTCCACGAGAGATTTGCATTTGCTTCTGCCAGTACTTA GGAATGCTACCAATCTGAGACTTCTTGAAATTAAGTTCTCTGTTTAGGGT TTTGTTTAATCCTCCTGGCAGAGTGAATTTAGACAAGACACTGGCTAATA CCAACTGGTGGTTCCTATTCTCAGGGGAGATATTTTTTCCTCCTATGACA CAGTGTCAAGTTTGAGACAATCAAGCTTCCTTGCTGTCCTTTTCTGTGTG GGGGATTTTTGTCTTTATATTTTCACTGAAGGTGCAGGTTTTTGGTATCC CAGTTGCATATGGGGGGTCTATTAGATGATCCATCTTAAGCATTTCTTCC TCTCTTGGTGGGACGTGAAAGCACAACTTACAGTTGACGGCAACTTAAGA GTCTGTGAAGTATGATGTGTAATTGTTTTCTGTCCACTTCCCCCACTAGA ACATAAGCTCCCTGAGAGCAGTGATGGACTATTTTGTTCATTTGTGGTTT CTTTAGTACCTAGAACAGTATCAGGTACATGGTAGGCTCCCAACAAACAT CTGTTGAATAAATATTAGCCCCAAAATATTTGTTGAATAAAAAATGAATA AGTTAATTTTTGCCTGGGAATAAAAGAGAAATTCTGGATCAGACTATCAT TTATAATATTGGAAAGGTGAGACTACAACAGGCTATCTGAATCATTAGCT TGACTTACTGTGTGTGACATCTAAAATTGTCTCTTTGTCTTTGTGCATGC TACTCTGAAAAAACATGGTTCTGCTTATTTAAAAAACATATTTTAAGGCT CGGTGTGGTGGCTCATGCCTGTGGTCCTAGCTACTCACAAGGCTGAGATG GGAGGGTTGCATGGTCCAGGAGCTTGAGGCTGCAGTGAGTTATGACTGCC TACCGTGCTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAGAAATAA TTAAATAATAAAATTATGTTAAACAGGATATGTGCCACCCACATAAATTT AATATTCACAATTAGCATTTTATGCTCTGGAGAATTAGAAAAGGGCATTT GGGGAAAGATTAATTTCAAATTATTTGATGCTGGTGATAAGCCACATAAA GGAAAAGCCTCCGCTTTAAGCTTCTGGTTTGTACTGACCTGGAGCAGGGA GGCCATCTCAAAGGAAGGGGAGAGCCTGGCCGGCAAGCCAGCCTCACTAG AAAAGATAGAAAGTTGTGCCGTTTCCATTTCCAATAGACACATAAGCATA AGAAGTAAGCCTCAGGCATCACATTCACTGGATTTTTATCTTCACTCAGC AAATGTTAGAAACAAAAGTTAAAAATTAAATCCCTGGCCCGGCGCGGTGG CTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACA AGGTCAGGAGTTCGAGACCAGCCTGTCCAATATGATGAAACCCCGTCTCT ACTAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCGCGCCTGTAGTCC CAGCTACTACAGGCGTGTAGTCTGGCCACCACGCCCCGCTAATTTTTTTT TTTTTTTTTTTTTTTGGATTTTTAGTAGAGACGGGGTTTCACTGTGCTAG CCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTTG	T T	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	328	0.0031	-2143	c.197 others(16): Show c.197+160_197+2302del		TMED8	ENSG00000100580.8	transcript	ENST00000216468.8	protein_coding	2/5					chr14	TogoVar
FGF12_chr3_192134390_192732541	192672100	CTTCTATA others(2135): Show CTTCTATAGTAAACTGCAGGAATATGACAATAAAAGGAAATAATACAGAG GCTTTATGTGTTTCATAGAATCTCATAGTTGTGAGAAGAGCCTGGGGTGG GTAGGAGTGGGTGATAAAGTAAGGCAACTCCTCTGATACACACCTCCCAG ACCAAATGCTTTGAGGGCAACTCTGGATTTTTATAAGTATTTAAAAATAA GATTTTCCTGTTGTCATAAATAAATAAAGAAATCACTAAGTTATCTGAAT GTTCTTTTTTTTTAAAGTCTGGTATGGACAAACCTGAAAATTCCAAGTAG ATGAACACACATTAAAATTGTCATTCTAGGTTGATATCCATGCACCCATC TCTACTTACCTCAAATTCCTGCACACGTATTGCCGTGCAGCTTGGAAAGA TGCATACAGCTTTTACCCATGACTAATCATCACATTTTACCACTTCAAAC ACAGGGGACAGATCCGTGAGAAGGCACAGTTGTTTATCAAACCGTTGAAG TGATAACACAAACAAGCTTCTTTAAAAGCAAAAGAGCACAAGAGTAGACT GTGTGGGCTTCGTTTTGTTCCCTTTATTGACCCATTTGCTTAAATTTTCA TAAATGTTTCAGTTGTTGAACATTCTGCTGCCAAGGAATTCATCAAGGCC ATAGAAATATGCAGCTCAGGTACAAAGATGAAGTTTGGAACTCTTGGCAA GAGCTGGCCTTGATCCACTGAGTTTCCTTGCCTTATCTCTCCTGTTCAAC TCAATTTCAGTGGATATTTTATGAGCTCCTACTGTGTGCTACATTCTAGG CAAGACACACTTGGAAATGGAGAAAAAAATAAGGCATAAAGTCCAATCCA AAAGGCAATAAAAGAAATGCATAAGAAAGGTGCAGCTGTAGTGGTTTTGC AATCACTTCAAGTTGGAGGCTTTTAGTGATTGAGTGATCACTTCAAGTTG AAGACTCTCCCTGGGAAATGATAATGTTGAACCAGTCCTTAATAGGAAAT TGAGGATTAAAAGGGCAGTTTTTGTCCAGGAAATGAGCAAATCCAGGTGA TCTAACTCCATAGGCTTCCTGACATGAGAAGGTGCTCTCCTCACTCATTT ACTCTTTGCTTATATTAGCAGGTTGTCTTGAGGAGCATTAGAAAGGGGCA ACCACAAAGAGGCCTGTGGTGCTGGCAAGAAAAACGTAAAGAACACTGTA ATACAGAGACAAATCAGTTAAGTATTATAATAAATTGCCCACATCCATAA AAACTACATCCAGAAACCTTTTCCTTTTTTAAAAAATTGTATTTTATTTT AGGTTCTGGGATACATGTGTAGAACGTGCAGGTTGGTTACATAGGTAAAC GTATGCCATGGTGGTTTGCTGTACCTGTCAACCCATCACCTAGGTATTAA GCCCCCCATGCATTAGCCATTAGTCCTGATGCTCTCCCTCCTCCTGCCCC CCTGACAGGCTCCAGTGTGTGTTGCTCCCCTCCCTGTGTCCATGTGTTCT CGCTGTTCAGCTCCCACCTATGAGTGAGAACATGTGATGTTTGGCTTTCT GTTCCTGTGATAGTCTGCTGATCATTATGGCTTCCAACTTCATCCATGCC CCTGCAAAGGACATGATCTCATTCCTTTTCTATGGCTGCATAGTATTCCA TGGTGTATATGTACCACATTTCCTATATCCAGTCTATCATTAATGGGCAT TTGGGTTTGTTCCAAGACTTTATTATTGTGAATAGTGCTGCATTAAGCAT ACATGTGCATGTATCTTTATAATAGAATGATCTATATTTCCTTTGGGTAT ATACCCAGTAATGGGATTGTTGAGTCAAATAGTATTTCTGTTTCTAGATC CTTGAGGAATCACCACACTCAGACAGCTTTTCAAATCATCTAATTCTTGA CTCTAACTCATTCAAAAGTTATTGCTAAGTGTTTTATGACTAGACTCTCT TATTGAGTGATTCCTCCTACATCCAATGTTGCAACTCAAGGAATTTACAT TCATACTCAGGATTTTTTTGTGCCCTATCTCATGTAATCCCTAGAACAAC CCATGGGGTAGTTATTAACCTTGTGACAAATTATTATGTACCATAGACTT GGGTCAGCTGCTTTGTATCTAATCAAAACACCATGAATGTTAA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0068 a0001c0001t0006g0068	1	90	0.0111	-2142	c.13+ others(17): Show c.13+52939_13+55080del		FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	2/5					chr3	TogoVar

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Search Results (Total: 1673 hits)