Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
VPS13B_chr8_99008274_99882580	99593624	ACTATTCA others(2006): Show ACTATTCACAATAGCAAAGACATGGAATCAACCTAAATGCCCATCAGTGA TAGACTGGATAAAGAAAATGTGGTAAGTATACACCATGGAATAGTGTGCA GCCATAAAAAGGAACAAGATCGTGTACTGTGCAGGGACATGGATGGAGTT TAAAGCCATTATGCTCAGCAAACTAATACAAGAATAGAAAACCAAACACC ACATGTTCTCACTTATCAGTGGGAGCTGAATGATGAGAACACATGGACAC AGGTTGGGGAACAACACACACTGAGGTCCATGGGTGGAGGGGTGAGGGAG GGGTGGAGAGATGGAGAATATCAGGAAGAATAGCTAATGGATGCTGCACC TAATACCTAGGTGATGGGATGATCTGTGCAGGAAACCACCATGGCACAGA TTTACCTATGTGACAAACCTGCACATCCTGCACATGTACCACTGAACTTA AACGTTAAAGGAAAAAAAAATGCTTTTCTTTTGCATCAGGGGAGTTAAGA GAGAATGGAGAGAATTGTTGCAGATAAGGTCTGTTTGTTGATTTTTCTCA GGATATGAGTCTCGGGGGACATGTAAGAAAGAAAACATAGTGGTCAAGAA CTTGAGCTTTGTTGTTGGAGTCCGGCAATAAATCCCATCTCCTGTGTTTA CTTTCTGTGTGGCCTTGGACATGTTACTTTAATTCATGTGAGCTTCAATT TAATCATCTGCAAAATTGAGATAATAATAGTCTTCCCCAATGGGGTTGTT GTAGAGATTAATTGGGAAGCTGTTTCTTAAGCATTTTCCATAGTGATTGT TATATAATAAGAACTCAATAAAAGCCATCACCATCATTGTCATCTCATCT AGAGATCGTTAATTTTCATCTCTTTTTCTATCTACTACATTATATCTTGC CCAAGATCCTTCTCCTGTTTGCTTGATTATAGAGCATATATGACTATTGC TTAATGTTTTTGAGCTTGATTGGATAAAAGAATGATGTAATATTATGCTC CAATGTCCTATTTATCATCTGGCAGGCTTTGAAAGGGTGTCTGTTCCATA GACTTCTGTCCAGTTGATAACACAGTTTGCTCCAGCAGCTTATTCCTCAG GTAAATGAGATCTTGCTGAAACTACAGTTGATAGTGAGATGCTTCTGTAA GCACTGGGGTTTTTTTCAGGTGGCAGACTAACAGAAGGATGTGTGTATCC CACTGCTTTGCTCTGCTCACCTTGCTCTTTTCACTCAGGATTCACTGTTG ACTTTTCTCAGCCATAGGAAAGGTTTACATAACCAATCTTCATGAAATCA GTTAGGACTGTTATTAATGGGTCACTGTCAAATTAATTATTGCTGAAATT TTAGCTCTTTGCAATAGATGAAGCAACTGTTAAAGCTGCATTGAAAGACA CTTGCATTTTCTCCTCAAAGATTCATTATTCCCAGTGTTTCTCTTCATAA GCTCTGTATGGTTAGTGACCCATATATGACCCTCTAAAATTGTTAAGAGC TTCAAAAGTCAATCCTATATTGAGTGCCCTATATTTTTTTGAACTATTTG TTGGGGGTTACATATAGATGAAAAATGTTAAACTTTCATTAATATAAAAA TGTATGACAAAGCAACAGCAATCAAGACAATATGATACTGGCATAAGGAT AGACATATGGATCAATGAAATAGAATTGAGAGTTCAGGTACTAACTCTCC TGTTTATAGTCAATTGATTTTTGACAAGGTAGTCTAGATCATTCAGTGGA GGAAAGAATAGTATTTTCAAGGAATAATGCTAGGATGACTGGATATTCCC ATGCAAAAGAATGAAGGAAAATGCCTAAATCATATCATATGTAACTCAAA ATGGATCAAAGACCTAAATATAAAGAGCTAAAACTATAAAAATCCTTGAA GAAACTATAGGTGAAAATGTTCATGATGTTTGATTAAGCAGTGTTTTTTT AGATATGACACCAAATCACAAAAACTAAAAAGAAAAAGAATAGATAAATG GAACTTTAAAAACC	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0122 a0001c0021t0001g0122	1	134	0.0075	-2013	c.522 others(21): Show c.5220+15994_5220+18006del		VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61				INFO_REALIGN_3_PRIME	chr8	TogoVar
OR2W3_chr1_247890587_247901531	247892317	TACATTTA others(2005): Show TACATTTAAGGTTAATATTGTAATGTGTGAATTTGATCCTGTCATTATGA TGTTAGCTGGTGATTTTGCTCGTTAGTTGATGCAGTTTCTTCCTAGTCTC AATGGTCTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTT CCTTTCCATGTTTAGCACTTCCTTCAGGAGCTCTTTTGGGGCAGGCCTGG TGGTGACAAAATCTCTCAGCGTTTGCTTGTCTGTAAAGTATTTTATTTCT CCTTCACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAA ATTCTTTTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTT GTAGGGTTTCTGCCAAGAGATCCGCTGTTAGTCTGATGGGCTTCCCTTTG AGGGTAACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCAT TTCAACTTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCA AGGAGTATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCC TGCCTTGCTATATTGGGGAAGTTCTCCTGGATAATATCCTGCAGACTGTT TTCCAACTTGATTCCATTCTCCGCATCACTTTCAGGTACACCAATCAGAC GTAGATTTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCA TTTCTTTTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATT TATTTCATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGC ACCTGAGGCTTCTGCATTCTTCATGTAGTTCTCGAGCCTTGGTTTTCAGC TCCTTCAGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACA TTCTTCTAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAA TGTCCTCCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTC AGCTCGTCAAAATCAATCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGA ACTGCGTTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAG TTTTTCTGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGT CTTTGATGATGGTGATGTACAGATGGGTTTTTGGTGTGGATGTCCTTTCT GTTTGTTAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTT GGAATACCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCT CCCAGTTAGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGC AGTCTGCCCGTTCTCAGATCTCCAGCTGCATGCTGGGAGAACCACTGCTC TCTTCAAAGCTGTCAGACAGGGACATTTAAGTCTGCAGAGGTTACTGCTG TCTTTTTGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCA GGCAGGCCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCAGG CTGCTTTGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCC AGCCTCGCTGCTGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATC AGCGAGATTGCATGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGT CTCGTGGTGCGCCGTTTTTTAAGCCGGTCTGAAAAGCGCAATATTCGGGT GGGAGTGACCTGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTGG GAAAGGGAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCG CCCTGCTTCGGCTTGTGCACGGTGCGCGCACCCACTGGCCTGCGCCCACT GTCTGGCACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAG AAATCACCTGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCT GTTCCTATTCGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00438.hp1 others(61): Show HG00099.hp1 HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00733.hp2 HG01074.hp1 HG01109.hp1 HG01192.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02148.hp2 HG02273.hp1 HG02523.hp1 HG02559.hp2 HG02683.hp1 HG02738.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03831.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18969.hp1 NA18971.hp1 NA18975.hp1 NA18981.hp1 NA18982.hp2 NA18986.hp2 NA18993.hp1 NA19003.hp1 NA19004.hp1 NA19010.hp1 NA19062.hp2 NA19064.hp2 NA19068.hp2 NA19077.hp1 NA21309.hp2	a0000 a0001 a0002 others(8): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0016 a0020 a0025	a0000c0005 a0001c0002 a0001c0003 others(10): Show a0000c0005 a0001c0002 a0001c0003 a0002c0001 a0003c0004 a0003c0016 a0004c0006 a0005c0013 a0006c0007 a0008c0010 a0016c0029 a0020c0033 a0025c0020	a0000c0005t0000 a0001c0002t0000 a0001c0003t0000 others(10): Show a0000c0005t0000 a0001c0002t0000 a0001c0003t0000 a0002c0001t0000 a0003c0004t0000 a0003c0016t0000 a0004c0006t0000 a0005c0013t0000 a0006c0007t0000 a0008c0010t0000 a0016c0029t0000 a0020c0033t0000 a0025c0020t0000	a0000c0005t0000g0000 a0001c0002t0000g0000 a0001c0003t0000g0000 others(10): Show a0000c0005t0000g0000 a0001c0002t0000g0000 a0001c0003t0000g0000 a0002c0001t0000g0000 a0003c0004t0000g0000 a0003c0016t0000g0000 a0004c0006t0000g0000 a0005c0013t0000g0000 a0006c0007t0000g0000 a0008c0010t0000g0000 a0016c0029t0000g0000 a0020c0033t0000g0000 a0025c0020t0000g0000	64	388	0.1650	-2012	c.-32 others(11): Show c.-3269_-1258del		OR2W3	ENSG00000238243.3	transcript	ENST00000360358.3	protein_coding				3269		chr1	TogoVar
USP17L20_chr4_9253124_9264716	9257388	AAAGACTT others(2004): Show AAAGACTTGTCTTGTTCTCCCCTGGCAGGTAATTTCACTCGGACAGAGAA TCAATAGGCTCAACGTGGAAAGGTTATCGCTGGAAGGTCTGTTTGATTCC ACGGATCTCTCCTTTCTCACTAGGGAAGAAAATACGCTGTGCTAAATACT ATACTTCATTGACTATTCTCAGGTCAGAAAGCGCACTTTCGACTTCTTGT CCTTCCGTCGCTGAGAGGATGATGGCAGCTGCCAAAAGTACCTACTTGGA GGTTCATCCCAGCACAAACACACACACACACACGCCCCCCCCCACACACA CACAAACACACTCACACACACACACGCACACGGTTTCCTAGGTAAAGATT TCTTCCCTGCCATTGCTTTACCTAAAATAAGGCAACTGTGAGGCCACTGT CCCAACCCGGTTACACTCCTATTATATGTGCCTATCATCCTGAGGAGTAA TTTGATTCAGGTGTTCTGGAAGTCATGCTGTGGGCTGTGTCTGTTGAATT CCCAGCGATGCCAGGGGACACACCCTGTGACTCCTTCCTGAATTGAGTGC TGTTATTTGATTGGCTTATCGCGCACCTGATGAGTGGGTGGGGTGTTCGC GGTTGGTGGGGGTGACTTATAGAAGGGCTGATGCGGCCAGAGAGCTCGTC ATTTGAAGACTCTCTCGGAAGGGATAGCGTCTTTCTGCAACCTGCGGTCC CAGCAGAAAAACCTTGTGATCCTCGTTCCAGTCGACATGGAGGACGACTC ACTCTACTTGGGAGGTGAGTGGCAGTTCAACCACTTTTCAAAACTCACAT CTTCTCGGCCCGATGCAGCTTTTGCTGAAATCCAGCGGACTTCTCTCCCT GAGAAGTCACCACTCTCATGTGAGACCCGTGTCGACCTCTGTGATGATTT GGCTCCTGTGGCAAGACAGCTTGCTCCCAGGGAGAAGCTTCCTCTGAGTA GCAGGAGACCTGCTGCGGTGGGGGCTGGGCTCCAGAATATGGGAAATACC TGCTACGTGAACGCTTCCTTGCAGTGCCTGACATACACACCGCCCCTTGC CAACTACATGCTGTCCCGGGAGCACTCTCAAACGTGTCATCGTCACAAGG GCTGCATGCTCTGTACGATGCAAGCTCACATCACACGGGCCCTCCACAAT CCTGGCCACGTCATCCAGCCCTCACAGGCATTGGCTGCTGGCTTCCATAG AGGCAAGCAGGAAGATGCCCATGAATTTCTCATGTTCACTGTGGATGCCA TGAAAAAGGCATGCCTTCCCGGGCACAAGCAGGTGGATCATCACTCTAAG GACACCACCCTCATCCACCAAATATTTGGAGGCTACTGGAGATCTCAAAT CAAGTGTCTCCACTGCCACGGCATTTCAGACACTTTTGACCCTTACCTGG ACATCGCCCTGGATATCCAGGCAGCTCAGAGTGTCCAGCAAGCTTTGGAA CAGTTGGTGAAGCCCGAAGAACTCAATGGAGAGAATGCCTATCATTGTGG TGTTTGTCTCCAGAGGGCGCCGGCCTCCAAGACGTTAACTTTACACACCT CTGCCAAGGTCCTCATCCTTGTATTGAAGAGATTCTCCGATGTCACAGGC AACAAGATTGCCAAGAATGTGCAATATCCTGAGTGCCTTGACATGCAGCC ATACATGTCTCAGCCGAACACAGGACCTCTCGTCTATGTCCTCTATGCTG TGCTGGTCCACGCTGGGTGGAGTTGTCACAACGGACATTACTTCTCTTAT GTCAAAGCTCAAGAAGGCCAGTGGTATAAAATGGATGATGCCGAGGTCAC CGCCTCTAGCATCACTTCTGTCCTGAGTCAACAGGCCTACGTCCTCTTTT ACATCCAGAAGAGTGAATGGGAAAGACACAGTGAGAGTGTGTCAAGAGGC AGAGAACCAAGAGCCCTTGGCGCAGAAGACACAGACAGGCGAGCAACGCA AGGAGAGCTCAAGAGAGACCACCCCTGCCTCCAGGCCCCCGAGTTGGACG AGCACTTGGTGG	A A	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG02723.hp2 HG02723.hp2	a0075 a0075	a0075c0112 a0075c0112	a0075c0112t0000 a0075c0112t0000	a0075c0112t0000g0000 a0075c0112t0000g0000	1	234	0.0043	-2011	c.-73 others(9): Show c.-735_1276del	p.Met others(3): Show p.Met1fs	USP17L20	ENSG00000250745.3	transcript	ENST00000506151.1	protein_coding	1/1	1/1593	1/530			chr4	TogoVar
RPH3AL_chr17_207389_357807	253984	CGTCTGTC others(2003): Show CGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTA TGAGGGGAGCCGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACT ACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCA TCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACG GCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCT ATGAGGGGAGCCGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGAC TACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCC ATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCAC GGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCC TATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATATGA CTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTC CATCCCTAGGAATGTGACTACCCAACGTACTTCCTATGAGGGGAGCCGCA CGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTC CTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTG ACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTT CCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGC ACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTT CCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGT GACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTT TCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCG CACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACT TCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATG TGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTG TTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCC GCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTAC TTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAAT ATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCT GTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTGTTCCATCCCTAGGAA TGTGACTACCCAACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTC CTGTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCGTCCCTAGG AATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGG AGCTGCACGGT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0097 a0001c0001t0007g0097	1	133	0.0075	-2010	c.439 others(17): Show c.439-8709_439-6700del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9					chr17	TogoVar
RPH3AL_chr17_207389_357807	254200	ATCCCTAG others(2003): Show 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 GAATATGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGTGTCTG TCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGG GAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTA CGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTA GGAATATGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCT GTCCTTTTCCG	A A	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19005.hp2 NA18995.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0026 a0001c0001t0002 a0001c0004t0026	a0001c0001t0002g0029 a0001c0004t0026g0013 a0001c0001t0002g0029 a0001c0004t0026g0013	2	133	0.0150	-2010	c.439 others(17): Show c.439-8925_439-6916del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9					chr17	TogoVar
USP17L27_chr4_9339148_9350740	9348158	AAAGACTT others(2003): Show AAAGACTTGTCTTGTTCTCCACTGGCAGGTAATTTCACTCGGACAGAGAA TCAATAGGCTCAACGTGGAAAGGTTATCGCTGGAAGGTCTGTTTGATTCC ACGGATCTCTCCTTTCTCACTAGGGAAGAAAATACGCTGTGCTAAATACT ATACTTCATTGACTATTCTCAGGTCAGAAAGCGCACTTTCGACTTCTTGT CCTTCCTTCGCTGAGAGGATGATGGCAGCTGCCAAAAGTACCTACTTGGA GGTTCATCCCAGCACAAACACACACACACACACGCCCCCCCCCCACACAC ACAAACACACTCACACACACACACGCACACGGTTTCCTAGGTAAAGATTT CTTCCCTGCCATTGCTTTACCTAAAATAAGGCAACTGTGAGGCCACTGTC CCAACCCGGATACACTCCTATTATATGTGCCTATCATCCTGAGGAGTAAT TTGATTCAGGTGTTCTGGAAGTCATGCTGTGGGCTGTGTCTGTTGAATTC CCAGCGATGCCAGGGGACACACCCTGTGACTCCTTCCTGAATTGAGTGCT GATATTTGATTGGCTTATCGCGCACCTGATGAGTGGGTGGGGTGTTCGCG GTTGGTGGGGGTGACTTACAGAAGGGCTGATGCGGCCAGAGAGCTCGTCA TTTGAAGACTCTCTCGGAAGGGATAGCGTCTTTCTGCAACCTGCGGTCCC AGCAGACAAACCTTGTGATCCTCGTTCCAGTCGACATGGAGGACGACTCA CTCTACTTGAGAGGTGAGTGGCAGTTCAACCACTTTTCAAAACTCACATC TTCTCGGCCCGATGCAGCTTTTGCTGAAATCCAGCGGACTTCTCTCCCTG AGAAGTCACCACTCTCATGTGAGACCCGTGTCGACCTCTGTGATGATTTG GCTCCTGTGGCAAGACAGCTTGCTCCCAGGGAGAAGCTTCCTCTGAGTAG CAGGAGACCTGCTGCGGTGGGGGCTGGGCTCCAGAATATGGGAAATACCT GCTACGTGAACGCTTCCTTGCAGTGCCTGACATACACACCGCCCCTTGCC AACTACATGCTGTCCCGGGAGCACTCTCAAACGTGTCATCGTCACAAGGG CTGCATGCTCTGTACTATGCAAGCTCACATCACACGGGCCCTCCACAATC CTGGCCACGTCATCCAGCCCTCACAGGCATTGGCTGCTGGCTTCCATAGA GGCAAGCAGGAAGATGCCCATGAATTTCTCATGTTCACTGTGGATGCCAT GAAAAAGGCATGCCTTCCCGGGCACAAGCAGGTAGATCATCACTCTAAGG ACACCACCCTCATCCACCAAATATTTGGAGGCTACTGGAGATCTCAAATC AAGTGTCTCCACTGCCACGGCATTTCAGACACTTTTGACCCTTACCTGGA CATCGCCCTGGATATCCAGGCAGCTCAGAGTGTCCAGCAAGCTTTGGAAC AGTTGGTGAAGCCCGAAGAACTCAATGGAGAGAATGCCTATCATTGTGGT GTTTGTCTCCAGAGGGCGCCGGCCTCCAAGACGTTAACTTTACACACCTC TGCCAAGGTCCTCATCCTTGTATTGAAGAGATTCTCCGATGTCACAGGCA ACAAGATTGCCAAGAATGTGCAATATCCTGAGTGCCTTGACATGCAGCCA TACATGTCTCAGCCGAACACAGGACCTCTCGTCTATGTCCTCTATGCTGT GCTGGTCCACGCTGGGTGGAGTTGTCACAACGGACATTACTTCTCTTATG TCAAAGCTCAAGAAGGCCAGTGGTATAAAATGGATGATGCCGAGGTCACC GCCTCTAGCATCACTTCTGTCCTGAGTCAACAGGCCTACGTCCTCTTTTA CATCCAGAAGAGTGAATGGGAAAGACACAGTGAGAGTGTGTCAAGAGGCA GGGAACCAAGAGCCCTTGGCGCAGAAGACACCGACAGGCGAGCAACGCAA GGAGAGCTCAAGAGAGACCACCCCTGCCTCCAGGCCCCCGAGTTGGACGA GCACTTGGTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0000 a0004c0002t0000	a0004c0002t0000g0000 a0004c0002t0000g0000	1	90	0.0111	-2010	c.24 others(11): Show c.2419_*4428del		USP17L27	ENSG00000235780.3	transcript	ENST00000515574.1	protein_coding				2419		chr4	TogoVar
ZNF888_chr19_52899415_52928428	52918944	GAAAAAAA others(2003): Show GAAAAAAAAAAAAAATCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCCTCTCGCTCTCCCTCTCCCTCTCCC TCCACGGTCTCCCTCTGATGCCGAGCCAAGGCTGGACTATACTGCTGCCA TCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCG AGCGCCTGCGATTGCGGGCGCGCGCCGCCACGCCTGACTGGTTTTCATGT TTTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAG CTCCTAACCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAG TCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTG ATCTCCGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCCCCC AAAGTGCCGAGATTGCAGGCTCTGCCCAGCCGCCACCCCATCTGGGAAGT GAGGAGCGTCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCT GCCCGGCCGCCATCCCATCTAGGAAGCGAGGAGCGCCTCTTCCCCGCCGC CATCCCATCTAGGAAGTGAGGAGTGTCTCTGCCCGGCCACCCATCGTCTG AGATGTGGGGAGCACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGC GCCTCTGCTGGGCCGCAACCCTGTCTGGGAGGTGAGGAGCGTCTCTGCCC GGCCGCCCCGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCG TCTGAGAAGTGAGGAGCCCCTCCGTCCGGCAGCCACCCCGTCTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCTGGGACGTGTGCCC AGCGGCTCATTGGGGATGGGCCATGATGACAATGGAGGTTTTGTGGAATA GAAAGGCGGGAAAGGTGGGGAAAAAATTGAGAGGCCGGGTGGTTGCCGGG TCTGTGTGGATGGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACT AAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATCCCC AACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGA TTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAAAA AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAGGAAAAAAAAAA AAAAAAGGAATTATTTGTCACTTACTGTCTCTCTAAGGGCAGCCATTGTA AGACCTCAAAGAAACTTTAGCCTCCACAATCTTTTCTCTTAACCTGAACA TTTCCTTTCTATGGATCCCAGGTTTTTAGACAAACTCAACCAATTGTCAA CCAGAAAATGTTTAAATTTACCTATAGCCTGGAGGCCTGCCCACCACCCC TTTGAGTTGTCTCGCCCTTCTGGACCAAACAATGTCTTTCTTTAATGTAT TTGATTGATGTCTCCTGTCTCCCTAAAATGTATAAAACCAAGCTGCGCCC CGACCACCTTGGGCATGTGTTCCTGGGACCCCCTGAGGCTGTGTCACAGG TCAGGGTCACTCATGTTTGGCTCAGAATAAATCTCTTCAAATATTAAAAA AAAAAAAAAAA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(174): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03831.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19078.hp1 NA19078.hp2 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0014	a0001c0001 a0001c0004 a0001c0008 others(10): Show a0001c0001 a0001c0004 a0001c0008 a0001c0014 a0002c0002 a0002c0003 a0002c0010 a0003c0007 a0004c0011 a0006c0013 a0007c0015 a0008c0025 a0014c0016	a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 others(21): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 a0001c0004t0001 a0001c0008t0005 a0001c0014t0001 a0002c0002t0003 a0002c0002t0006 a0002c0003t0003 a0002c0003t0004 a0002c0003t0008 a0002c0003t0009 a0002c0003t0019 a0002c0003t0026 a0002c0003t0027 a0002c0003t0030 a0002c0010t0020 a0002c0010t0033 a0003c0007t0010 a0004c0011t0009 a0006c0013t0001 a0007c0015t0005 a0008c0025t0010 a0014c0016t0008	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0062 others(148): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0195 a0001c0001t0001g0213 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0282 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0053 a0001c0001t0005g0061 a0001c0001t0005g0073 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0111 a0001c0001t0005g0160 a0001c0001t0005g0164 a0001c0001t0005g0212 a0001c0001t0005g0225 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0235 a0001c0001t0005g0254 a0001c0001t0005g0283 a0001c0001t0005g0333 a0001c0001t0005g0347 a0001c0001t0005g0348 a0001c0001t0018g0007 a0001c0004t0001g0018 a0001c0004t0001g0020 a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0004t0001g0048 a0001c0004t0001g0051 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0067 a0001c0004t0001g0068 a0001c0004t0001g0069 a0001c0004t0001g0081 a0001c0004t0001g0088 a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0001g0100 a0001c0004t0001g0108 a0001c0004t0001g0118 a0001c0004t0001g0149 a0001c0004t0001g0157 a0001c0004t0001g0168 a0001c0004t0001g0170 a0001c0004t0001g0207 a0001c0004t0001g0208 a0001c0004t0001g0216 a0001c0004t0001g0217 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0241 a0001c0004t0001g0244 a0001c0004t0001g0250 a0001c0004t0001g0256 a0001c0004t0001g0269 a0001c0004t0001g0272 a0001c0004t0001g0273 a0001c0004t0001g0325 a0001c0004t0001g0326 a0001c0004t0001g0327 a0001c0004t0001g0328 a0001c0004t0001g0329 a0001c0004t0001g0330 a0001c0004t0001g0332 a0001c0004t0001g0334 a0001c0004t0001g0335 a0001c0004t0001g0343 a0001c0004t0001g0345 a0001c0004t0001g0361 a0001c0004t0001g0363 a0001c0008t0005g0099 a0001c0014t0001g0064 a0001c0014t0001g0202 a0002c0002t0003g0094 a0002c0002t0006g0002 a0002c0002t0006g0230 a0002c0002t0006g0291 a0002c0002t0006g0292 a0002c0003t0003g0080 a0002c0003t0003g0154 a0002c0003t0003g0240 a0002c0003t0003g0367 a0002c0003t0004g0003 a0002c0003t0004g0005 a0002c0003t0004g0012 a0002c0003t0004g0036 a0002c0003t0004g0050 a0002c0003t0004g0052 a0002c0003t0004g0054 a0002c0003t0004g0075 a0002c0003t0004g0087 a0002c0003t0004g0107 a0002c0003t0004g0132 a0002c0003t0004g0141 a0002c0003t0004g0144 a0002c0003t0004g0145 a0002c0003t0004g0153 a0002c0003t0004g0158 a0002c0003t0004g0162 a0002c0003t0004g0209 a0002c0003t0004g0210 a0002c0003t0004g0246 a0002c0003t0004g0248 a0002c0003t0004g0255 a0002c0003t0004g0359 a0002c0003t0008g0046 a0002c0003t0008g0047 a0002c0003t0008g0135 a0002c0003t0008g0136 a0002c0003t0008g0336 a0002c0003t0009g0134 a0002c0003t0009g0146 a0002c0003t0009g0245 a0002c0003t0019g0247 a0002c0003t0019g0249 a0002c0003t0026g0331 a0002c0003t0027g0034 a0002c0003t0030g0133 a0002c0010t0020g0127 a0002c0010t0020g0140 a0002c0010t0033g0271 a0003c0007t0010g0017 a0003c0007t0010g0130 a0003c0007t0010g0131 a0003c0007t0010g0147 a0004c0011t0009g0151 a0004c0011t0009g0152 a0006c0013t0001g0022 a0007c0015t0005g0201 a0008c0025t0010g0121 a0014c0016t0008g0237	177	426	0.4155	-2010	c.-17 others(16): Show c.-177-2017_-177-8del		ZNF888	ENSG00000213793.6	transcript	ENST00000638862.2	protein_coding	1/4					chr19	TogoVar
GAL3ST2_chr2_241771822_241809287	241805525	TCCCCCCT others(2002): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCC CCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTT CCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCC ACCCTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	314	0.0032	-2009	c.13 others(11): Show c.1360_*3368del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding				1239		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132231252	TCCCTAGT others(2002): Show TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTACTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCG ATGGGGTGACAGGGACAGCGTGGAGCCCCTAGTGCTACACACTCGATGGG GCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGC GACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGA CAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGCATGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGTGTGGAGTCCCTACTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAG CGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGGGACAGCGTGGAG CCCCTAGTGCTACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGAT GGGGCGACAGAGGAGACAGTGTGGAGTCCCTAGTGCCACACACTCGATGG GGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGG CGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCG ACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGAC AGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAG AGGAGACAGCGTGGAGTCCCCTACTGCCACACACTCCATGGGGCGACAGG AGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	183	0.0055	-2009	c.107 others(21): Show c.1077+14649_1077+16657del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10					chr12	TogoVar
NEU4_chr2_241804193_241822413	241805525	TCCCCCCT others(2002): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCC CCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTT CCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCC ACCCTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	319	0.0031	-2009	c.-37 others(11): Show c.-3752_-1744del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding				3667		chr2	TogoVar
ZAN_chr7_100728595_100802797	100743614	TGCCTGTA others(2002): Show TGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAG GCCACGAGTTCAAGACCAGCCTGGAACATATAGTGAGATCTTGTCTCTAC AAAAAATACAAAAATTAGCCCAGTGTGGTGGCACACACCTGTAGTCCCAG ATACTCGGGAGGCTGACGTGGGAGGACTGATTGAGCCTGGGAGGTGGAGG TGGCAGTGAGCTGTGATCGCACTACTGCACTCCAGCCTGGGCGACAGAGT GAGATTGTGTCTCAAAATAAATAAATAAATAAAAATAGAGATGGGGTCTT GCTACATTGCCCAGGCTGGTCTCAAACTCTGGGCCTCAAGCCATCTTCCT GCTTCGGCCTCCCAAAGTGCTTGAAGTACAGGTGTGAGCTGCCACGCCCA GCCTATATCTCTTTGTTCTTCTTTTCCCTTAATACTTATCCTTTCTCAAT CCATTTCCTCCCTTCCACTTTACCATTTCCACACTTTATTTTATTTTCTT TATTTGTAAAGATGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCGGACTC CTGGCCTCAAGTGATCCTCCTGCCTCTGCCGTATTTTCTTTTCTGTTTTT CCCCATCTTTTCCTCTCTCCACTCCATCAGTGTCCACTTGGACTCCTGCA CTCCTGTCTCTGATCTTTCCTGCTGCCTAAACTTTGTTTTCTAGAAGGGC CCTGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGC GGAGGCAGGTGGATCACCAGAGGTCAGGAGTCCGAGACCAGCCTGGCCAA CATAGCGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCTTGG TGGTGTGCACCTGTAATCCCAACACTCGGGAGGCTGAGGCAGGAGAATTG TTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATAGCGCCACTGCA CTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAATAAAAATAAATAAA TAAATACGTACATAAATAAATAAGGCCTTAAGAAGCCCTGGCCCCACCTT CACTGAAAGCCGACCAGCCCTCTCTGCAACCCCTCAGCATTTAGCACCGT GTACCGCGCCCAGCAGCTTCAGTAAATGCTGGTTGGCTTTTTATTTTTCC TTTCTTTCCCTTTCCTTTTCCATCTTGCTCGCTTCCTTATATTTTCTTCA CCTTTCACTTCTTTTTCTCCCATTTCTCCTCTTCTGTTTCTCATAGGTCT CCTTGGTTTTTTTTTTGTTGTTGTTGTTTGTTTGTTTTTTGAGACAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCGGTGACGCGATCTCAGCTCACTGCA ACCTCCGCCTCCCGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGATTACAGATGCCCGCCACCACGCCCGGCTAATTTTTGTACTTTT AGTAGAGACGGGATTTCGCCATGTTGGCCAAGCTGGTCTAGAACCCCTGA CCTCAGGTGATCCGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCAGCCCGTGTCCTTGATTTCTCTTTCATCATTTTCC CACTTCCTTTCCTTTCCCTTCCCTCTTCCTTCCCGGTTGTTTCCTTTCTT CTCCTTCCTCCCGCCCATTCCCGCCATTCCAGCCTCTTCGCCGCCGCTCA GGATCCCACCTTCGGCAGGAGTGAGCGCGCGCCAGGCAAGACTCCCTTGG ACTCGGGCGTGAGCACGCACGCGAGCGCGCTCCCCACGAGTGGCAGCCGC TTACATTTTCTTTTTCGCTACCAGTTGCGTCACCTAGCGAGGTCCACGCT GATTGGCTGTCTGAGCTGGGGGCCGAGGTGGTGTTGGGTGAGAGGGGGTT TGCCTCTTGCTCCTCTGTGTCAGAGCCGCTGTATCTCTCGCCAGTTTGCG TGAATAGGTTATGTCCAGCGGGTAAAGAAAAGGAAGAGGCAATCGGGTGT AGTGGCTCAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp2 HG03225.hp2 HG01243.hp2 HG02486.hp2 HG03225.hp2	a0014 a0028 a0051 a0014 a0028 a0051	a0014c0068 a0028c0069 a0051c0063 a0014c0068 a0028c0069 a0051c0063	a0014c0068t0001 a0028c0069t0001 a0051c0063t0003 a0014c0068t0001 a0028c0069t0001 a0051c0063t0003	a0014c0068t0001g0092 a0028c0069t0001g0091 a0051c0063t0003g0090 a0014c0068t0001g0092 a0028c0069t0001g0091 a0051c0063t0003g0090	3	308	0.0097	-2009	c.767 others(16): Show c.767-2895_767-887del		ZAN	ENSG00000146839.19	transcript	ENST00000613979.5	protein_coding	7/47				INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF888_chr19_52899415_52928428	52918944	GAAAAAAA others(2002): Show GAAAAAAAAAAAAAATCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCCTCTCGCTCTCCCTCTCCCTCTCCC TCCACGGTCTCCCTCTGATGCCGAGCCAAGGCTGGACTATACTGCTGCCA TCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCAGCCTGCCG AGCGCCTGCGATTGCGGGCGCGCGCCGCCACGCCTGACTGGTTTTCATGT TTTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAG CTCCTAACCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAG TCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTG ATCTCCGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCTTGGCCCCCC AAAGTGCCGAGATTGCAGGCTCTGCCCAGCCGCCACCCCATCTGGGAAGT GAGGAGCGTCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCT GCCCGGCCGCCATCCCATCTAGGAAGCGAGGAGCGCCTCTTCCCCGCCGC CATCCCATCTAGGAAGTGAGGAGTGTCTCTGCCCGGCCACCCATCGTCTG AGATGTGGGGAGCACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGC GCCTCTGCTGGGCCGCAACCCTGTCTGGGAGGTGAGGAGCGTCTCTGCCC GGCCGCCCCGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCG TCTGAGAAGTGAGGAGCCCCTCCGTCCGGCAGCCACCCCGTCTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCTGGGACGTGTGCCC AGCGGCTCATTGGGGATGGGCCATGATGACAATGGAGGTTTTGTGGAATA GAAAGGCGGGAAAGGTGGGGAAAAAATTGAGAGGCCGGGTGGTTGCCGGG TCTGTGTGGATGGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACT AAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATCCCC AACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGA TTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAAAA AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAGGAAAAAAAAAA AAAAAAGGAATTATTTGTCACTTACTGTCTCTCTAAGGGCAGCCATTGTA AGACCTCAAAGAAACTTTAGCCTCCACAATCTTTTCTCTTAACCTGAACA TTTCCTTTCTATGGATCCCAGGTTTTTAGACAAACTCAACCAATTGTCAA CCAGAAAATGTTTAAATTTACCTATAGCCTGGAGGCCTGCCCACCACCCC TTTGAGTTGTCTCGCCCTTCTGGACCAAACAATGTCTTTCTTTAATGTAT TTGATTGATGTCTCCTGTCTCCCTAAAATGTATAAAACCAAGCTGCGCCC CGACCACCTTGGGCATGTGTTCCTGGGACCCCCTGAGGCTGTGTCACAGG TCAGGGTCACTCATGTTTGGCTCAGAATAAATCTCTTCAAATATTAAAAA AAAAAAAAAA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(117): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02809.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18978.hp1 NA18979.hp2 NA18986.hp1 NA18990.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19068.hp2 NA19079.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp1 NA20129.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0009 a0010 a0012 a0013	a0001c0001 a0001c0004 a0001c0005 others(9): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0002c0002 a0002c0003 a0002c0009 a0003c0018 a0009c0020 a0010c0021 a0012c0024 a0013c0023	a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 others(20): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0006t0005 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0025 a0002c0002t0029 a0002c0002t0031 a0002c0003t0004 a0002c0003t0008 a0002c0003t0014 a0002c0009t0003 a0003c0018t0010 a0009c0020t0028 a0010c0021t0009 a0012c0024t0032 a0013c0023t0001	a0001c0001t0001g0023 a0001c0001t0001g0352 a0001c0001t0005g0102 others(91): Show a0001c0001t0001g0023 a0001c0001t0001g0352 a0001c0001t0005g0102 a0001c0001t0005g0224 a0001c0004t0001g0113 a0001c0005t0001g0037 a0001c0005t0001g0039 a0001c0005t0001g0055 a0001c0005t0001g0074 a0001c0005t0001g0079 a0001c0005t0001g0243 a0001c0005t0001g0266 a0001c0005t0001g0267 a0001c0005t0001g0296 a0001c0005t0001g0300 a0001c0005t0001g0356 a0001c0005t0001g0357 a0001c0006t0001g0029 a0001c0006t0001g0038 a0001c0006t0001g0293 a0001c0006t0001g0294 a0001c0006t0001g0312 a0001c0006t0005g0089 a0001c0006t0005g0299 a0001c0006t0005g0313 a0002c0002t0003g0001 a0002c0002t0003g0008 a0002c0002t0003g0011 a0002c0002t0003g0019 a0002c0002t0003g0024 a0002c0002t0003g0028 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0090 a0002c0002t0003g0171 a0002c0002t0003g0206 a0002c0002t0003g0214 a0002c0002t0003g0215 a0002c0002t0003g0218 a0002c0002t0003g0231 a0002c0002t0003g0232 a0002c0002t0003g0265 a0002c0002t0003g0268 a0002c0002t0003g0276 a0002c0002t0003g0277 a0002c0002t0003g0285 a0002c0002t0003g0286 a0002c0002t0003g0287 a0002c0002t0003g0297 a0002c0002t0003g0298 a0002c0002t0003g0301 a0002c0002t0003g0302 a0002c0002t0003g0303 a0002c0002t0003g0304 a0002c0002t0003g0305 a0002c0002t0003g0306 a0002c0002t0003g0307 a0002c0002t0003g0308 a0002c0002t0003g0309 a0002c0002t0003g0351 a0002c0002t0003g0372 a0002c0002t0004g0165 a0002c0002t0004g0370 a0002c0002t0006g0004 a0002c0002t0006g0021 a0002c0002t0006g0155 a0002c0002t0006g0260 a0002c0002t0006g0295 a0002c0002t0006g0353 a0002c0002t0006g0354 a0002c0002t0006g0355 a0002c0002t0008g0009 a0002c0002t0008g0031 a0002c0002t0008g0035 a0002c0002t0008g0040 a0002c0002t0009g0010 a0002c0002t0009g0125 a0002c0002t0025g0032 a0002c0002t0029g0126 a0002c0002t0031g0278 a0002c0003t0004g0310 a0002c0003t0008g0161 a0002c0003t0014g0030 a0002c0003t0014g0365 a0002c0003t0014g0366 a0002c0009t0003g0025 a0002c0009t0003g0086 a0003c0018t0010g0371 a0009c0020t0028g0124 a0010c0021t0009g0239 a0012c0024t0032g0311 a0013c0023t0001g0233	120	426	0.2817	-2009	c.-17 others(16): Show c.-177-2016_-177-8del		ZNF888	ENSG00000213793.6	transcript	ENST00000638862.2	protein_coding	1/4					chr19	TogoVar
INSR_chr19_7107265_7299414	7250890	CAGGAACG others(2001): Show CAGGAACGTACGATCAGCAACACTCAGACTGGGGACTGCACCCCAAGCCA GAAAGCCCAGCTCTTCAACAGAGAGAAGGTAAAAGGAAAGGGATGGAGGG AGAACCTGTGGACCAGGCTTTCTGCCCCTCAGCACTATTGACATTTGGGG CTGGATCATTCTTTGTGGCTGGGCTGTCTCTGCATTGCAGGACGTTGAAC GGCATCCCTGGCCTCCATCTGCTCAATGAAAGCAGTACACACACATTCCC TGGAGTTGTGACAACCAAAAAATATCTCCAGACATTGCCAAATGTCCCCT GGGAGACAAAAAAAATCACCCTCAGTTCAAAACCACTGCTAGAGACCCAA ACAAACACATCAATTTATTTTATTGTGTTAATTTTTGAGCCAGGGTCTTG CTCTGTCACGCAGGCTGGAGTGCAATATGCAATCTCGGCTCATTACAGCC TCAACCTTCTGTGCTCAAGCGATCCTCCCACCTCAGCCTCCCGAGTAGCT GGGACTACAGGCATGCACCACCATGCTCGGCTAATTTTTTATTTTATTTT TAGTAGAGATGGGGTCTCACTATGTTGTCCAGGCTGGTCTCCAACTCTTG GCTTCAAGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGG CATGAGCCACCATGCCCGGCCATCAATTTTTTTTTTTAATGGGCAAAGCT AAATATTTGTCTACAGATTCACACTTGGGTGATAAAACTATACAGAAAGA AGGAAGTGATGTCTACAAAAGACAGGACAGTGACTACTCTGGGGGAAGAG GCCTGTGACTAGGATGTGGTCCGTGGCATGGCTTTTGGAGGGGGTGTTCT GGCAAAGTACTATTTCTCAACCAGAGTTAGGGATTATATGAGTGTTGACG TTAGAGTGAACCATTAGGCTATTCATTTGTTTGGTGTGGCTTTTCTGAAC CTGTGGTTTTTTTATGTAATAAGATAGAATTTTTTAAAGTAAAACCAAAA AAAGAAAAGAAAAAGAAATCTTGATTCCATTAATTAAATATAGAATTACC AACTGACCCAGCGATTCCACTCCTAGGTATAACTTCGAAAGAAGTGAAAA TAGCCCAGGTGCGGTGGCTCACGCCTGTAATTGTAGCACTTTGGGTGGCT GAGGTGGGTGGATCACCTGAGGTCCGGAGTTCAAGACCAGCCTGGCCAAC ATGGCGAAACCCTGTCTCTACTGAAAATACAAAAATTTGCCAGTGCGTAG TGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATC ACTTGAGGTCAGGAGTTCAAGACCATTCTGGCCAACATGACGAAACCCCA TCTCTACTAAAAATACAAAAAAAGTAGCCAGGCGTGGTGGTGTTCACCTA TAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGG AGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCATCTCAAAAAAAAAACAAATTTAAAGAAAAGGAATCTTG ACCACTTTGGATCAAACCCGTCTGCTAGGTTAGTCAATTTATTTGCAAAT GAGGAAACTCTTAACATCATCACCACCAATGAGGCAGCCTGGGACAAGAG CCTTGTTCACCAGCCGACGGGCTTTGCAGGTGGTCAGTAAACAACGCCGT GCTTCGCACACCGCGTGTGGACATGACTAGCTGCCAGCGCTTTAAAGCCC ATCCTTATCAGACCTCCGAGTAAAAATGTTTTCCTTCCCCAGGTAAGCCC TTGGAAACACTCGGTAATAAAGCCTATTAAACAACCATTCTTTCTGGGCT ACACTCAATAAGCCATGGAGTCATTAAAGATCCAAGACCCTCCTCGCCTG GGACAAAACGAGAGGCAAAGAAACTTCTAGGATAAAGAAGCCACAGCCAG GCGCGGTGGCTCACGCCTGTAATCCCAGCACCCTGGGAGGCCAAGGCGGG CAGATCACA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp2 NA20129.hp1 HG02451.hp2 HG02723.hp2 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0034 a0001c0006 a0001c0034	a0001c0006t0016 a0001c0006t0051 a0001c0034t0093 a0001c0006t0016 a0001c0006t0051 a0001c0034t0093	a0001c0006t0016g0104 a0001c0006t0051g0031 a0001c0034t0093g0162 a0001c0006t0016g0104 a0001c0006t0051g0031 a0001c0034t0093g0162	3	300	0.0100	-2008	c.652 others(19): Show c.652+14447_652+16454del		INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21					chr19	TogoVar
KRT37_chr17_41415547_41429585	41426044	ATGGTGGT others(2000): Show ATGGTGGTACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGAGGAGA ATTGCTTGAACCCGGGAGGCGGAGGTTTCCGTGAGCCAAGATTGCGCCAT TGCACTCCAGCCTGAGCAACAAGATTGACACTTTGTCTCAAAAAAGAAAA AAAAAGTTACGCTAGTTTGTAACATATGCATCATTTAAGACAGGGTGCGT CCTGAGAAATGCGTCGTTAAGAGATTTCTTCACTGTGGAAACATTATAGG GGGAACTCACACAAACCTAGATGGTAGAGCCTACTACACACCTAGACTGT ATAGCACAGCCTATAGCACCTGGCTACAAACCTGTACAGCATGTTGCTGT ACTGAGTATCATAGGCAACTATTATTAACACGATAATATTTGTGTATCTA AACATAGAAAAGGTAATGCATTGCACTACGACATTATAACCACTTCCACA TCACTAGAGAATAGGAATTTTCAGCATCATTATAATCTTGTGGGACCACC GCCCGTATATGTGGTCTGTCGTTGACAGAAACATTCTGACTGTATATCCC AAATCCCAGAGATTTCCAGTAGAGCTGGAAAACAAGTCAACCAATGGGGG TGTGGCCAGGAGTCATCCCTCCCAAGTGGTAGAGGGAAACCAGAAGGACC ATGGGACAAGCTCTAAAAGAGTATAAATAAACTCTTTAAAAAAAAAAAAA TCCCAATTAGTGGGAAAGTAAATGGCTGATACTAGTAGCAAAACCTTAAG TCTTTGAAATTGACATACTGGAAATGAGCCATTATTAAGATTTTAAATGA AAATAATAGGATTTAGACATAAAATAGGAAGCAAAATACAGTAAACAGAA ATCGTGTAGCCAAATATGCATCAAATATGCATTCCCTTCAGCTACACTTT TTTCCTCTGAAATACAAGTTTTAGAAAATCTTAGAAGAGGGGTGGGCGCA GGACTTAATGCTGGGAAGCAACAACTTTGGGGCTGAATTTACTTGAATGG ATTACAAATTGCATTGTTACACAGCTAAAAAAAACTTTATGTATGAAAAA TGATAATAGCCTTACACTGAGTACAAATAATACTTAAAAGCATGTGAAGA TGTGAGCATCTGTGATGTTACTTATAAAAAAAAAGTTTAGGTTTTTTTCC GTAAGTTATTGGGGTACAGGTGGTATTTTTTCCATAAGTGGTGGGGTTTT TTTCCATAAGTATTGGGGCACAGGTGGGTTACGTGAGTAAGTTCTTTGGT GGTGATTTGTGAGATTTTGGTGCACCCATCAGCCAAGCAGTATACACTGC ATCCTATTTGTAGTCTTTTATCCCTCACCCGCTCCCTTCCCCCGAAGTCC TCAAAGTCCATTGTATCATTCTTATGCCTTTGCATCCTCATAGCTTAGCT CCCACATATCAGTGACAATATATGATGTTTGGTTTTCCATTCCTGAGTTA CTTCACTTAGAATAATAGTCTCCAATCTCATCCAGGTCACTACAAGTGCC ATTAATTCATCCTTTTTATGGCTGAGTAGTATTTCATCATATATATGTAC CACAGTTTCTTTTTTTTTTTTTTTGAGATAGAGCTTCACTCTTGTAACCC AGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAACCTCCACCTCCC AGGTTCAAGAGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAG GTGCCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAAAGAAGGTGT TTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCA CCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGC CCAGCCCACAGTGTCTTTATCCACTCACTGATGGATGGGCATTTGGGTTG GTTCTGTGATTTTGCAATTGTGAATTGTGCTGCTACAAATGTGTGTGTGC AAGTATCTTTTTAGCATAATGACTTCTTTTCCTCTGAGTAGATACCCAGT AGTGGGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01516.hp1 HG01517.hp1 HG00099.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	409	0.0073	-2007	c.-35 others(11): Show c.-3528_-1522del		KRT37	ENSG00000108417.4	transcript	ENST00000225550.4	protein_coding				1460		chr17	TogoVar
TOR4A_chr9_137272726_137287641	137285634	ATATATAA others(2000): Show ATATATAAAAAATTGTTTTCCATCTTGAAAGTTTTTTTTTTAAATTTTTT TTGAGAGATGAATCTCAATCTGTTTCCCAGGTTGGAGTGCAGTGGTGCAA TCTCAGATCACGGCAACCTCTGCCTCCTGGGTTCAGGCAATTCTCCTGCC TCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCT AATTTTTGTAGTTTTAGTAGAGACAGGATTTCTCCATGTTGGCCAGGCTG GTCTCAAACTCCTGATCTCAGGTGATCCACCACCTTGGCCTCCCAAAGTG CTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTAATTTTTGTATTTTT TTAGTAGAGACGGGGTTTCACTATATGTTGGCCAGGCTGGTCTCGAACTC CTGAGATCAAGCAATCCTCTTGCCTCGGCCTCTCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCACCTGGCTTCACCTTGAAAGTTTTAAAGCCAATG TATCTTCTCTTTCTGAAGATTTGAAACATTTTGTAGACAGAATGGAAAGC AATGAAAATCTACAAAAATGTTTTGAATACCCAAAAGAAAAAGCATCAGA TTTGTTTCTGGCAATACCTGTGGTTGAGATGAAGGAATCCATAGCAGAGG TTTCTTCAGAGCCTCAGGCTTGGGATCAGTTTTTGTTGCACTATCAGGTT GAGTGTCTGCGATTACATGTTCAGAGGATCAACCAAAGTCAGAATTTCTG AAGTTGAAGTGAAACTACAGTATACTTTTTTTTTTCCAGACAGAGTTTCA CTCGGTTGCCCAGGCTGGAGTGTAATGGCATGATCATAGCACATTGCTCA AGCACATAGCAACAGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGTGCATGTCACCACGCCCAGCTAATTTTGTTCATTTT TTGTACAGATGAGGTTTCACTATGTTGCCCAAGCTAGTCTCAAACTCCTG GGCTCAAGGGATCCTCCTGCTTTGGCTTCTCAAAGTGCTGGGACTACAGG CTTGAGCCACCACACCTGGCCCAGACTGTGTTCTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCT CGGCTCACTGTAACCGCCTTCTGAGTTCACACTATTCTCCTGTCTCAGCC TTCCAAGTAGCTGAGATTGCAGCATGTGCCACCACACCTGGCTAACTTTG TATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAA CTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGAGAT TACAGGCGTGAGCCACTGCACCTGACCCAGGAGAAGGTCTTTGACTGTGT GGAGCTGGTGATGGATGAGCTACAAGGAGCAGTCCCTGCCATGGGCCTTC GTGGACTGAGGCCGTCAGAGCCTCCAGCAGGTGTCAGTGCAGCTCAGGGA GAGACACCCACTCAGCACCTCCCAAGAGATGCAGACTCATGTCCAGGACC TCGTGGAGTTTCTGGAGGCTGGAAAGGGAACGGGGATGGAAGGCGCTCCA GCACGTGGCCATTGCCCGGGGGTGTGAGCTGGTGATTTCTGCCCTTCTGC CTCTGAGGATGAGCGTAGAGCGTCGTAGTTTTTCTTATTTTTTTTTTCAA GACGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAGTGGCGTGATCTC GGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATGCTTCTGCTTCAG CCTCCCGAGTAGCTTACCTGGCTAACTTTTGTAGTTTTAGTAGAGACAGG GTTTCATCATGTTGCCCAGGCTGGTCTCCAACTCTTGACCTCAGGTGATC CACCTGTGTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCGA GCCCAGCCTCTTTTCTTTTTTTAAAATTTTTATTTTTTTGAGACAGGGTC TTACTCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG02015.hp2 others(15): Show HG00544.hp2 HG00558.hp1 HG02015.hp2 HG02027.hp2 HG02083.hp2 HG02132.hp2 HG02258.hp1 HG02698.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp1 NA18939.hp2 NA19003.hp1 NA19057.hp2 NA19064.hp1 NA19088.hp1 NA19090.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0003c0003t0005 a0001c0001t0005 a0003c0003t0005	a0001c0001t0005g0001 a0003c0003t0005g0004 a0001c0001t0005g0001 a0003c0003t0005g0004	18	408	0.0441	-2007	c.56 others(11): Show c.5674_*7680del		TOR4A	ENSG00000198113.3	transcript	ENST00000357503.3	protein_coding				2994		chr9	TogoVar
RNF223_chr1_1065967_1079306	1076027	GTTATGGG others(1999): Show GTTATGGGGACTCCGTGCTGGGAGGCTGAGGCTATGGGGACTCCATCGGG GGAGGCTGAGTCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGA CTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGCAGGCTGAGG CTACGGTGACTCCGTGCAGGGCTGTGAGGCTACGGGGACTCCGTGGGGGG TGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGCTGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGG AGGCTGAGTCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGCAGGCTGAGGCT ATGGTGACTCCGTGCAGGGCTGTGAGGCTACGGGGACTCCGTGGGGGGTG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA CGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA CGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA CGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA CGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAG GCTGAGTCTACGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCC GTGCGGGGAGGCTGAGTCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTA TGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAG GCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCT GTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTA CGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCC GTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGTCTA TGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAG GCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCC GTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTA TGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA CGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTTGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA CGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAG GCTGAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	-2006	c.-40 others(11): Show c.-4027_-2022del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding				1722		chr1	TogoVar
WDR70_chr5_37374318_37758435	37471229	CCCTCCTA others(1999): Show CCCTCCTACCCATAGTCCACAAAAGTTACCTTACATCTTTGCCAACACTT TGTGTTGTCAACCTTTTAAATTTTAGTCATTTTGGTGGATATATAGTAGT ATTTCATTGTGGCTTTATTTTGAATTTTTGTGATGCATGATGAGATTAGA CAACTTCTCATAACATTATTGGATATTTGGATATCCTTTCTCAAATGGTT AAATCTTTTGGCCATTTTTCCGGTGGTTGCCTTTTTTTTTTAAATACCAT TTAATAGATTTTAAAAATATGGTGGATCTAGGGACTTTCGTTGGTTAAAT AGGAGGCACATATTCACTCGCAATTTTTGGCTTGTTTTGTCACTGTTTGT GATGTCTTTTGGTGAATAGAAGTTACTAATTTTGATGAAGGTAACATTTG CATTCTTTTTTTTATGGTTAGAATTTTTTTGTTTTCTGTTTAAGAAAATT TTTCTTTAACCCCGTGTTGTCAATTTTATCTTCCAGAAGTTTAGATATAT TACTTTTAAAAGTTAATAATTAATGCCTACACTGTACCTGGAATTGATTT TTATGTGTGTTGTAAAATAAGGACAAAGATTTATTATTTACAATGTCAAA TTGACTCCGCATCATTCATTGAAAAGACTGCTTTCATCACTTTTGTCATA AATCAGGTGGTCTTTTTCTTGTCATATTGCATGGTCAAGGACCTCTATCG TATGTTGAATAGAAGTGTTGAAAATAGGCTTTCTTTTCTTGCTCCTAATG TCAGAGGGAAGGTTTTTAACATGTCAGCATTAAGGAAGATATTTGTTATA GTTTTTTTTTAATGATACCCTTTATCAAATTAAGAACTTTCCCTTTACTT CCTAATTTGCCAGGAGGTTTTATGAAATTATTAGTGAATATCCCAAGTTT AAATACAAATTTTGTTAAAGTACAATTTGTATGCAAGATTTTGCCATTCT TAAAGCCTTGACTTGAATGCTTTGATATTTGCATACACTTGCATAAGTAT CACTGAAAACAAATATACCCATCTCCTCAGAAAGTTCTCTTGATTCTTTT TCATTCTATGTCCCTCCTTCCCATAGAGGCAAGTACTTTTAAATTTTTAT TGCCATAATATTTTCCTATTTTTTTGACTTTATGTAATTGGGATTATATA ATATATAGTATGTTTCTTTTTTGTTTTACTCAATAAAATGTTTATGACAT TTATCCATGTATTTCATTGCATGAATATACCAAATGTACAAATTATATAT ACAACGTGTAAAGTGTACAATTGATTGATTACTTGAGATGGAGTCTTGTT CTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCT CTGCCTCCCGGGTTCAAGAAATTCTCTTGCCTCAGCCTCCCTAGTAGCTG GGATTTAACAGACACCCGCCTCCATGCCCTGTTAATTTTTTTGTACTTTT AGTAGAGATGGGGTTTTGCCATTTTGGCCAGGTTGATCTCAAACTCCTGG CCTCAAGTGATCTGCCCACCTCGGCCTCCCACAGTGCTGGGATTACAGGC ATGAGCCACTGTGCCTGGCCAAGTGTACAATTTAGATTATTGTTTTCAGC TTTTGGACGTAATGAATAAAGCTGCTTTGAACGTTTTTGTATGAGCCTTT TTGTGTGCTATGAACATACCTAAGAATAGAACTGCTGAGTCGTAGGATAG GTACATGTTTACCTTTATATGAAACTGCCAAACAGTTCTCCAACATATTT TTTTATCTTACACTTTACCAGTTGTGTATGAGAATTCTAATTGCTCCACA TTCTTGACCATATTTGATATGGTCAGTATCTTTGATTTAACCATTTTAGT GGGTGGGTATAAAATGATACCTTGTGTTTTTTTGTTTTTGCATTTCATAA ATGATTAATGATGTGAAGCACCTTTTAATGTTTTTATAGAGCACTTGAAT ATATTTTGTTAAGTATCTATCTTTTTACTTTTAGTGGGTTGTTGGTCTTT TTATTCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02922.hp1 HG01243.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0025 a0001c0001t0001g0030	2	242	0.0083	-2006	c.687 others(17): Show c.687-8604_687-6599del		WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	7/17					chr5	TogoVar
SDHA_chr5_213320_262082	258388	CCCTGCCA others(1998): Show CCCTGCCAGAGCATTACCGTTTGAGCTCCGCCTCCTGTCAGAGCATTACT GTGAGCTCCATCTCTTGTCAGAGCATTACCGTGTGAGCTCCACCCCCTGC CAGAGCATTACCGTGTGAGCTCCGCCCCCTGCCAGAGCATTACTGTGAGC TCCTTCTCCTCTCAGAGCCTTGCCGTGAGCTCCGCCCCCCGCCAGAGCAT TACCGTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGTGTGAGCTCCGCC TCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCTGTCACAGCATTACC GTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCC GTCCGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGTGT GAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCCCCTGCCA GAGCATTACTGTGAGCTCCTTCTCCTCTCAGAGCCTTGCCGTGAGCTCCG CCCTCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTA CCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTC CCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGT GTGAGCTCCGCCTCCCGCCACAGCATTACCGTGTGAGCTCCGCCTCCCGT CAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGA GCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGA GCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTC CGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCAT TACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCC CCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACC GTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCC GACAGAGCATTACCGTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGTGT GAGCTCCGCCTCCTGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCA GAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGC ATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCG CCCCCCGCCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTA CCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTC CCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGT GTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGT CACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGA GCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGA GCATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTC CGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCAT TACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCC TCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACC GTGTGAGCTCCGCCTCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCG CCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTG AGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAG AGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCT CCGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA19081.hp2 NA18965.hp2 NA19081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0102 a0002c0003t0004g0103 a0002c0003t0004g0102 a0002c0003t0004g0103	2	266	0.0075	-2005	c.19 others(11): Show c.1969_*3973del		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding				1307		chr5	TogoVar
GAL3ST2_chr2_241771822_241809287	241805491	CCTCAGCC others(1997): Show 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 GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0153 a0002c0002t0002g0153	1	314	0.0032	-2004	c.13 others(11): Show c.1326_*3329del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding				1205		chr2	TogoVar
LRRC40_chr1_70139805_70210579	70182529	CTAACAAA others(1995): Show CTAACAAAAAACTTAATTCAGAAATTGTCAAAGCATTTTTAAAAACCCAA ATAATTCTAATAAACCCCCTTGTAAATTCTACATAAAATTACTAATAAAG TTAAATAATTACTGCAGTTAGTAATTGTTAGATATAAAACATAAATACAC TATATAAATTAATCCATATTTATGCCAAGTCATTCCTTTAACAAATAATT AGTTGCATTGTGCTAAGCAGTTTTTATACAAGTTTAAGAAATATTACTAG TTTAAATTATAGGTGTTTAATCTGTTTTAATATATTGTTGCTCACATTTA TGATTTGATACTGAGTCTGTAGAACACAATTCTGAAATGAAACATTCTTT CATTATGTAAACGAGTCTCTGGGAACATGTGGGTGGATAGTAGAAATTTT ATTTATTTTAAATTTTCCTTTCAGCTCTCAACTCCAAATGGACTCTTTTA AATCAACTGCTACCTTTTACCACCAATTTTTATAAGAAAATCTGATGGCT TCCTCCTTTGCCATTCATTTTATCTACCTATGCCTTTTACTTATTTCCCA TCTGATCATTTGGAAAGACAAGAAGACACTGAAGGAATGGTTGAGAAGAG TATATATTTTGACTTTTAAACTCTAGAACAAATGAGGGAAGTATCAAGGA GGATGTACACACAGCAAAAATAGAAAAGGAGTAATTTCTTCCTTTAATGA AAAGCAAGCTAAAATGACAGGAGTTTTCCAAAACATGTAAGAGGGAAAAG AATAACAATGCAATATGAATTAACTATGTGGAGTAGATATTATATATTAG TACCTTCGATTTAATACAGCTAAAGTCTTTCAGATGGTATAGCCTGCAGT GGAATCTTATTCCTTTGGTGGTAAAATGGAAAAAAAAAAAGAGATGGATA CACTTTGGAGTTAAATTGACTTACACTCAAATTCTAATTTTGTTACTTGT TAGTTGTGTTACTTTTGACAAATTTTCTTTTCTCTGTCTCTTTCTTTCTT CCTTTCTCTCTCTTTCTTTTTCTTTCCTCTCTCTCTCTTTTTTTGAGACA GGGTCTCCTGTCATCCACGCTGGAGTGCAGTGGCTCAATCATGGCTCACT AAAGCCTCAGCCTCCCTGACTCAGGCAACTTCCCTGCCTCAGCCTTCTGA GTAGCTGAGACTTACAGGCACGTGCCACCACACCTGGATAATTTTTGTAT TCTTTGTAGAGACAGGTTTTTTGCCATGTTTTCCAGGCTGGTCTCGAACT CCTGGGCTCAAAAAATCCACCCACCTTGGCTTCCCAAAGTGACAGAATTA CAGGCACGAACTACCACACCTAGCTCCAAATTTCCTTTTTATCAGCTTTA CTTTCTTATTGTATTAGGGGATATTACATTGCCATATGTAATGCTCAAAG ATAAATGTCTATTGTTTTTATTATTCTTAATAATACGACTAGACTAGCAG TGGCTCATGCCCGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGTGGATC ATTTGAGGTCAGGAGTTCAAGATCAGTCTGGCCAAATGGTGAAACCCCGT CTCTACTAAAAATACAAAAATTAGCCGGGCAGTAGAGGTGCATGCCTGTA ATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAG GTGGAGGTTGCAGTGAGCGAGATTGCGCCACTGCACTCCAGTCTGGGTGA CAGGGTAAGACCATGTCCCCCCAAAAATAAAATAATAATAAAAATATGAC TAAAATAATATTTGTATTGCTTTACAGTTATCTCTATTTAAGGTAAGTGA AACAATGGAATTAAAATTTTGCCAGGAAGTGTGGCCATTCTGAAAAGTAG AGAAGACAGACCTTCAGTGAATTACCTGGACATTTGGAAGGCAGAAGGGC CGCAGGTAATATAAGGAAGGAAATGGAAATGGGTATAGAAAAGAGAATTG GTATATGCTAAAGACAACTTTCCTCTATTCTGCTATGCTGTAAAGCCTCT GAA	C C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18995.hp1 NA18964.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0266 a0001c0001t0002g0239 a0001c0001t0002g0266	2	320	0.0063	-2002	c.537 others(16): Show c.537+254_538-1321del		LRRC40	ENSG00000066557.6	transcript	ENST00000370952.4	protein_coding	4/14					chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88956137	TGTCAGTT others(1993): Show TGTCAGTTGTCTGCCAGGAGAGCCGTGGAGGGCAGCCGCCTGGCCCCAGC CCGAGGCCATGTAGAGCCTCCAGACAGAATGGCCAGGAAACTGAGTCAGA GCCTGTTTATCACGCGTGTGACGGAGGGCGAAGACCTGCATCACGGGAGA ACCCCACGCACACGGAGCTCATGGCCTGTGCCAGGGTGGGCGGGAGACCT TCACCCACCCGCCGGGTCCCCGGGACACAGCGTGTCCGCCTGCTCTTCCC CAGGGGTCTCAGGGCTCTCTGCTCTTTGAGCCCAGGATGACCCTGCTCCC CCAGGCTCAGAGCCCAGCAGCTCCCGGAGGGTGGAGGGTAGAGGAACGCG GAGCTTCTACTGGCCTCACAGGCATGGCCCCATTCATTTAGTTCCACAGG TCGGGGCTTCCCAGCAGGGGACATGGAGGCCCAGAAAGCATTTGTCTAGA GTCACACAATACCGTGGCAGAGGGAGGCGAGGCTGGGACCCATAGGCTCT GTCTCCATTACCCCAACCTGCAGCTGCCCCACCTGGCCTGGTGTCTGTTA CTGGTGGACCCTGCTGGCGGAGCCCTGGGAGAAAGAGGCGCTCCAGGCGT GGGCGGCGGGGGCTGGCATCTGCTCCTCGGCTGCTTTCCTGACCGAGTTT GGAACTGGACCGCATGGCCCTTGCCCTCCCTCTGTGCCTTCTCCAGGTGG CGTCACAGGGGCCTGCAGCAGCTGCACCAAGCCCGGCCCCTGGGGTTCTC AGCTGCCTGGCACCCTCCAGTCCACACTGTACTTTGCCAGGGCCTCTGAA ATGCAGAGGCTGAACCACAGAAGAAGTGGCTCACCCGGAGACTGCGGCAG CCTGAAGTCGGCTGAACCACAGAATGAGTGGCTCACCCGGAGACTGCGGC AGCCTGAAGTCGGGGCCCTCTACGTCTTTGTCACGCTCTCTCCCGGAACA AAACCGCCCTTGGGCTTCAGGCCCCAGAGGTTATGCCCACGGGCAGCTGC CCAGCAGAACCATCATCACACGAGATTGGTTGCTCACTCCTCCCCCATCG ACCCACTCCCCGGCATCTTCCCTCTCACCAAATGCTGCCGGTGGTTCTAA CCTCACAGTCTGGACAGCCAGCTGATGGCCCCAGAGGTTCCTGGTCAGAA GTGCTGCCTTTCCCTGCCCTCGGGACACCCCCGCCCCCACGGCAGATGCC ACTGCCTTTCAGGGCCAGTAGCAGACATGGCAGAGCACTCTCCGTGGGGC TGTCACCTGACTCGGGATAACAGTGCTACTCACACAGCACAAACGGGGTC GGAGCTTGCACAGAGACCACGATGCCCCCTCAGCCCAGGGAGGACGACGC AAAGGTGATAGCTAGTCCCTCCACCCCCAGACACATCCCCTTGCTGACCC CCACACCTGTCCTCAGTGTACATCTGGGAAGCCCAGAGAGGGTCAGTGGC TCACCTGAGACACACAGCTGTGGTGAGACAAGGTTCTCCATAGACTGTCA GCCGAGCACAGATAAACTCAAAAGCAGATGCAGTGCACACTTATTCAGAC ATAAGAAGGAAGGCAGGTCCGACACACGCTCCAGTGGGGATGGACCCAGA AAACACGGGCGAGTGGAAGAGCTGGACACAGGATCCCGCTTACACACAAC ACCGGAAAAGACAAATCCACAGAGGCAGGAAGCAGATCAGTGGTGGGCAG GGCAGAGGGAGGGAACGGGCCTGACTGCCCGTGGGCATGGGGTTTCTTTT GGGGGAAAATGTTCTAAAACTTGTTAGCAATGATGGTTGCACACCTCTGG GGCTTTGCTAAGTGCCACTGACTTGTGTACTTGAGATGGGTGAGTTGTAA GATGTGTGGGTTATACCTCAACAAGGCTGCTGGAAAACCACAGTAGACCC GGAACGAAAGTACCTGTGAGCTGCTCACAATCCCTCGCTCACAGAGAGGC CACGGAACTTTGTCAGCGCACCAGGGCAGTAGCGGGATGGGTGTCAAGGC C	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0211 a0001c0006t0001g0211	1	284	0.0035	-2000	c.151 others(19): Show c.151+18520_151+20519del		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11					chr16	TogoVar
H4C11_chr6_27819092_27829480	27826731	CCCTCACG others(1993): Show CCCTCACGGCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCCCCCGGACGGGGCGGCCGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGTTGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGACGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATTCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGC AGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACTGGGCG GCTGGCCGGGCGGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGTCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGACGGCTGGCCGGGCGGGGGGCTGACG CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCC CCCCACCTCCCTCCAGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTTAC TTCCCAGACGGGGTGGCTGCCGGGTGGAGAGGCTCCTCACTTCTCAGACG GGGCGGCTGCCGGGCAGAGAGGCTCCTCACTTCTCATACGGGGCGGCTGC CCGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGC TCCTCACCTCCCAGACGGGATGGCGGCCGGGCAGAGGCGCTCCTCACATC CCAGACAGGGCGGCGGGGCAGAGGCGCTCCCCACATCCCAGACGATGGGC GGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCGGCCGGGAAG AGGCGCTCCTCACTTCCCAGATGGGATGGCGGCCGGGCAGAGACGCTCCT CACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACG ATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCC GGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGG GAGGTGGAGGTTGTAGCGAGCGGAGATCACGCCACTGCACTCCAGCCTGG GCGCCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCT CGGGAGGCCGAGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAGACCAGC CCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAATACGAAAACCAG TCAGGCGTGGCGGCGCGCGCCTGCAATTGCAGGCACTCCGCAGGCTGAGG CAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTATA GTCCAGCTTTGGCTCGGCATGAGAGGGAGACCGTGGAAAGAGAGGGAGAG GGAGACCATGGGGAGAGGGAGAGGGAGAGGGCGAAAAACAATTTTAAATC CTCAAAAGTTGTCAGATCTGGAATTGCTAAGTGGGCCTAAATAAAATTTT TTGCATATAAATAATGTTTCTCTTTAAGATGTAAAAAATAATATATATAT TTTAACTATGTATGTCTATACATATAAATATATATATATATGTATATATA TATATATATTTTTTTTTTGAGACAGAGCCTTAGTCTGTCACCCAGGCTGG A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	1	396	0.0025	-2000	c.22 others(11): Show c.2296_*4295del		H4C11	ENSG00000197238.5	transcript	ENST00000355057.3	protein_coding				2252		chr6	TogoVar
H4C12_chr6_27826174_27836560	27826731	CCCTCACG others(1993): Show CCCTCACGGCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCCCCCGGACGGGGCGGCCGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGTTGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGACGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATTCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGC AGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACTGGGCG GCTGGCCGGGCGGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGTCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGACGGCTGGCCGGGCGGGGGGCTGACG CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCC CCCCACCTCCCTCCAGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTTAC TTCCCAGACGGGGTGGCTGCCGGGTGGAGAGGCTCCTCACTTCTCAGACG GGGCGGCTGCCGGGCAGAGAGGCTCCTCACTTCTCATACGGGGCGGCTGC CCGGCGGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGC TCCTCACCTCCCAGACGGGATGGCGGCCGGGCAGAGGCGCTCCTCACATC CCAGACAGGGCGGCGGGGCAGAGGCGCTCCCCACATCCCAGACGATGGGC GGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCGGCCGGGAAG AGGCGCTCCTCACTTCCCAGATGGGATGGCGGCCGGGCAGAGACGCTCCT CACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACG ATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCC GGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGG GAGGTGGAGGTTGTAGCGAGCGGAGATCACGCCACTGCACTCCAGCCTGG GCGCCATTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCCGGCACCT CGGGAGGCCGAGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAGACCAGC CCGGCCAACACAGCGAAACCCCGTCTCCACCAAAAAAATACGAAAACCAG TCAGGCGTGGCGGCGCGCGCCTGCAATTGCAGGCACTCCGCAGGCTGAGG CAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTATA GTCCAGCTTTGGCTCGGCATGAGAGGGAGACCGTGGAAAGAGAGGGAGAG GGAGACCATGGGGAGAGGGAGAGGGAGAGGGCGAAAAACAATTTTAAATC CTCAAAAGTTGTCAGATCTGGAATTGCTAAGTGGGCCTAAATAAAATTTT TTGCATATAAATAATGTTTCTCTTTAAGATGTAAAAAATAATATATATAT TTTAACTATGTATGTCTATACATATAAATATATATATATATGTATATATA TATATATATTTTTTTTTTGAGACAGAGCCTTAGTCTGTCACCCAGGCTGG A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	419	0.0024	-2000	c.24 others(11): Show c.2485_*4484del		H4C12	ENSG00000273542.2	transcript	ENST00000611927.2	protein_coding				4442		chr6	TogoVar

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Search Results (Total: 1673 hits)