Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ADORA1_chr1_203122726_203172405	203165257	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0342 a0001c0001t0021g0342	1	408	0.0025	0	c.342 others(5): Show c.342-4C>G		ADORA1	ENSG00000163485.18	transcript	ENST00000337894.9	protein_coding	3/3					chr1	TogoVar
ADPGK_chr15_72746294_72788758	72756446	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01952.hp2 HG01993.hp1 HG02273.hp1 HG01952.hp2 HG01993.hp1 HG02273.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0190 a0001c0005t0001g0193 a0001c0005t0001g0194 a0001c0005t0001g0190 a0001c0005t0001g0193 a0001c0005t0001g0194	3	370	0.0081	0	c.645 others(3): Show c.645G>A	p.Gly others(6): Show p.Gly215Gly	ADPGK	ENSG00000159322.18	transcript	ENST00000456471.3	protein_coding	5/7	712/2608	645/1494	215/497		chr15	TogoVar
ADPRHL1_chr13_113394611_113458488	113395851	TCCAGGCT others(4328): Show TCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCCT ACCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGAACCA CAGGCACCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGA TCCGCCTTTCTTGGCCTCCCAAAGTGCTGGGATAACAGGCGTGAGCCACC GCGCCCGGCCCCCTGTGTTTTCTTGAGTGCAGGGGGCAGAATCCATCCTG GGGAATTTGAGCAGAAAGGGACATGGTGAGCAGTGTGACAGCTCCCAGCT CCTTGCAGGACTAGAGGAAAGGCCTCCAAGCCCAGCTCTGCACTGGCTAA TGAGCTTCCTTCTCTCAGCTTCCCTGGAAACATCTTTCTCTGCACACCCA GGAGACTCCATATCACCGGCTCGTCCTCACCGTGGGCCCAGAACCTGCTG TGCCCTGCCGGCCTGGGGAGGTTGCGTCTCCCTGGCAGAGCTGCATGCGT CCCAGCAGCAAGGAAGGCTGGGGATGTGGGATGTGGGACTGCCGTGCAGA GAGAAGACAGGATTCATGTTGTGGGGAGCTGTCAAAACGTAGAAAAATAG CCCCACTTTTGGGGCTCCCATGAAAGACTGGGGTCTTATTCATATGTTTG AGCCCCTTTGGAATTTGAAATGAAGCCGAGTTCCCTTCCTAACGACACAG AGCTCGCAGAAGCCGCCTCTTCTCTTGGGCGTCCACCGTCAGCTCTTTCT GGACTTTGTTCTTCCTGTATGTGTGCGGCTTCCTGCCGTTATCAAAGTCC AAGAATTTCATCAGTTTCTTATTTTGTTTTATTTTTTAACATTTTATTCA TTTTTTTTTAAGATACAAGATCTTGCTATGTTTCTAGGCTGGCCTCAAAC TCCGAGGCTTACGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTGGGACC ACAGGTGCTGCCACCGCACCCGGCTTCTTGATTATTTTATCATCATCATT ATTGATTGAGCAATGGAAATCTGTAACTTATTTGGTGCTTTTTTTGGGTT CTTATTTCTTCAAGATTTGGAAAATTCTTCCCTACGTGCAGATTTGCTGG TGGGTTGAGCGCCTTCTTCCAGTTGGGGATTAAGACATGACTTCCAGTGG TACAGGCCGTAAGGAAACAGCCATCCAGAGAATTCAACAGCTCTTTCTCC GCTCTTCAATACAACATGACCTGTGGTCTTTTGTTCTTTTATTTTTTATT TTACTTTCATTTTTAAATAGAGACGGGGTCTCACTATGTTGCCCAGGCTG GTCTGGAACTCCTGGTCTCAAGTGGTGAGAAACAAACTCATCTGTCCAAA CCCAGAAGAAGGACTCGGAGACCCGGAGGAGAGTGAAAGGGAGACTTTCT TTCTTTCTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCGGCTGG AGTGCAGTGGCGTAATCTCGGCTCACTGCAACCTCTGCTTCCCGGGTCCA AGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACA CCACCACACTCAGTTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACC ATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGTGATCTGCCTGCCTC AGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCTGA AAGTGAGACTGTTGATGATGGTCTTGCAAGATCGGGTGTCTGATGGGCAG CCACAGCCAGCACAGTTTCAACAAATAATTTATCCCCTAGTGCACAGGTG TCTCCCCGGGTTCCTCACAGGCTGAGTACTCTGGGGTCACAGTCTTCTGG GACGTCACCTATTGGTTGTTGGGCAGGGGCTGTAGGTGTTTTTTTTAGGG GTGTCCTGTTGCATTTTGTTGCAGCCCACAATGCATTGCAATCCCAGTCA GCCCAGGGGCTCTTCAAGTATTTGACTTATGACCTAAGTAGCTGGGCAGG CTGATAAGAACAGACAAAGCCAGCTATTTTGCAGGCTAGTAAACTGTTAT CTTAGACTAAACTTCTTTAGTTCAGGTGAGAGCACCTAAGGGCCGGGGGG AAGGGAGGGAGAAGGGGAGGCCGGCAAGCAGGCACTGGCGATCCAGGCAG GGGCCTCGGACCTCCTGTTTCTTCTGTAGTTTGCTGACTTAAGCCGATTC AAGGCACTTTGTCTTGGAAACGGACCACTGTAGACACTGTTGCCTTCACT CCCCGCTTGGCCTCCTTTGTTCTTCTAGGAGAAGATGCCTCGGCACTTTC ACGAGTTTGGGGTGTGCACAGATGGGGCTTCTAGTAGGCTCCTGTGCCTT CGAGTGGCTTCCCAGACACCGCCTGGGGTTGTGGACCTGAGCCAGGCCAG TCCTCTCGCTGTCAGAGAAACGGCGTGCACTGCTCAGCTGCTCAGTCCTG GGCTTTGGGGGCTACGTGACATCCATTCCTGTCAAAAATCCATGGCGGCC ATAAAGATTCAGCAAATGCACCGACGCTCAAACAGACAAATGTCCCGGCA CTTCCTTTTGTGGTTGGGGCTTTTTCTTCTGTTCAGGGAAACATTTGTCT ACCCCAAGCTTATAACAATATCCCAAGAATGGGGTTTGATCAGACTTCTA TGTACACCAGTCTCACAGACGCCCTCAATAAGTGCTTTTAAAAGTTCTAG CCGGTCGCAGAGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGATAACGTGGTG AAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTCTTGGCGG GCGCCTGTAGTCCCAGCTACTGAGGAGGCTGAGGCAGGACAGTGGCGTGA ACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCA GCCTGGGTGGCAGAGCGAGACTCCGTCTCAAAATAAATAAATGAAATAAA ATAAAATAAAAGTTCTAATGAAAGCCTGTGTCATAGCTTAATTGACAGGG GTTTTCTTTCAGGACAAGAGGTGCCTGCACCATCCCAAAGCCTCGGCTGC CGGGCCAGTGCTCTCAGACACGAGGCATCAGCTCGTTTCAGTGGAACAAG CTTTCCTCCTCACAAGATGCCAAGAACCCGCGCCACCCACGGGCACAGCA GGGGTTTGGAATGCAGGCATTCCCAGCTAGGTCTGGCGTGAGCTTAAACC ACCCGTTGTTAAATCCTCATGAAAAGTCACTTACAAAGTTCTCCTGCATA CAGAGTAGTGGAGGGCAGAGGGTGTCTCACAGGCCTGCTGGGCCCGTTGC ACCCATACTCCTTCCCTCCCTTCTGTCCAGTCTCCCTCCGTGTCCCAGAG GACACCCCAGCCCTTTGGCCCCCCGCGGCCCAGGTGCAGTGGCCGAAGTC CAGCTCCCTGGGTCTTGCTCCGAGGCCGGCACAGTCTTGACTGGACCAAG AGAGGGTCTGGGGAGTGCATGGCCTTGTCTCTCTAAGCACATCCTAAGGA GTTCTCCTCCCACTTGGGGCCTTGCCCCAGACCCTCCCTCCTGCCCAGGA TCACTGCTCCAGGCTGGCCACATTCACCCGATGGGGGCTCTGCCCCTCGC CCCAGGCCTGAGTCCTACTTCATTTATGCGGCTGCTTCAACAATGCAAGG AAGAGATTTGTAATGGGAAAGGTATTTTATTTCTTTTTGAAATTATTTCC AGCTGAATGATGTTAGTAAAAATACAGAGAGAATACAACAAATGACATTT AGTAATTTTTTCTGACTAACCCATTTTAGGGTTGTTTATATACAAAGAAG AATATGAACAAGAACAAATTTAATAAATAGCTGTAGCCTAATACACAACC GAAAGACCGTAACTCCAACAGCAGAGATACCCTGAGAACAGAATAAGGAG GTGGTGCTGAGCGTGTAAAATCCCAGACAACGACCCTCCCTGAGCGAGTG TCCTGAACATGACCACATTCTCGTCGCCGTCTCGGGACCTTCCTGCCGCC TGAGTGCACCGCCTCCCGCCCGGCTGTTGTCACTTGCACCCACAGACCTG CGGCTCACAGTGGGCCTGTCGACAGCCGGAGGCACCGTAAAAAACTGCAG GGAGGAGGCAGTCAACGAGTCGCTCAACTACACAAAATTAATGATGTTAA CTAAGAAGCTAAAATAAATATCCTGTTTTCTTTTCTTTTCTTTTCTTCTT TTTTTTTTTTTTTTTGACGGAGTCTCGCTCTGTCAC	T T	splice_region_variant splice_region_variant	LOW	HG02135.hp2 HG02135.hp2	a0045 a0045	a0045c0060 a0045c0060	a0045c0060t0112 a0045c0060t0112	a0045c0060t0112g0179 a0045c0060t0112g0179	1	262	0.0038	-4335	c.31 others(11): Show c.3192_*7526del		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8					chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113431936	TGAACTCC others(8731): Show TGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCACCCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCTGGCCGTGAAATAATTTTTAAAA TATGAGTAGGAAATATATTAGCAAATGTTTTAGAAATTTAAATTATTAAC ACAGATTCTTGTGCTCATTACATTGTTTTCAAATGTCCAGCTTTTTTTTT GTTTTTGAGATAGGGCCTCGCCCTGTCGCCCAGGCTGCAGTGCAATGGCG CAAACACAGCTCACTGCAGCCCCAACATCCTGGGTTCAGGCGATCCTCCT ACATCAGTAGCTGGAAACACAGGTGCGTGCCGTCATGCCTGGCTAATTTT TAATTTTTTTGTAGAGATGGAGTCTCCCCGTGTTGCCCAGGCTGGTCTCG TACTCCTGGGCTCAAGTGATCCTCCTGCCTCTGCCTCCCAAAGTGCTGGG ATCACAGGTGTGAGCCGCTGCACCTGCACCTGGCAAATGCCCAACATTTT CGGGTCTGAAGGTTTTAATTTTTAATTTGCGCCCAGTTGCAGCACTCAGC TAGCAGGAGTCCAGCACTGCTCCCTTCTCAGCATCTGACTCTGGCCCACC AGTTGGGTCACGTGCCTTCCCTCTTTCATTTTAACGAGTTAGCAAAGTTG CCTGTGAGTCCACTGCTTAGGCCATCTGTCCCCAGGGTAGTAAAGGCACG CACCTGCTTTGCTGCAGACTCAGTGGGGGTGGGACGGCCAGGCCGGCAGA GCTGCGTGTTGATCGAAGGCCGGTTGCTCACCGCTGTTCTCACGGAGGGG TGGGCAGCTCTGCCCTCCTTGTTGGGATGCCAGTCACAGCAGATACCAAA AGGTAATCTTGAACGAGGCTAGCGTGGCTGTTGGATGTGCGTGGGACTGG GCGGTGCCAGGACTAAGGGCCAACTGCAGGTCAGGAGTTTTGAGTCCTTT TTGCTTTTTTTAAATGGAAGCCAACCGAGCCGCCTCCTCATTACCTTTCA AAGTCAGGCCTAGAGTCAGGCGCTACCGCAGCCACCCCAGCCTGGCCTCT CAGAGGCCTGCCCTCCACAGGACGGGCTGCGGACGGGGACAAATCCCAGT GAGCAGCTGGCCAGCTGGCACAGACCACAAGGACGGAAGTGCCGTGTTAA GGGGGCGACATGATCCAACCCGCTTCACCCTCACACAGCCCGATTTGGGG GTGTGATTCACATGTGGCAGTCGCCCCGTTACAGGTTAGAAACCTGTGGC CCGTGGGGTGGAGCCGCTCCCGTGGTTCCCGTGGTCTCCTTGGCTCCCTT GGCCGGCGGGTGGTGGGGCCAACCCAGGGCACAGCAGGAAAATGCAGGAA GTATTGTACAAACCCTTGTCCCCAGGGTCCCCCCGATCCCACCTGCACCC AGGCACTGGTGCGTTTCTTTGTCTTTTGTTCTGACACAAATGATACCAAA ACCACTGAATTCTTCCCTTGCACAGTTTCTTCAACATCACCGTGCTTATC GCTAATCCTGCTTTTGGGCTGAAAACAGGCCTTAAGCAAAGCAGATTAAA AAATAAGCCAACTCCCCCAACAAATAAAAAAATCGATGTGAACCCACAAG ATTTCCAGCCCAGTGTCCCGGGCAGGGCGCCCTCACAGCAGGCAGCCGGC AGGTGCAGGGTCAGCTTCTGTCTCCTTTAAGCAGACGTGCAGATGGCGGC AGCTCCAGGCCCCCGCCCCCCACCCCACACTTAACCTGTGAGGTGGTTGT GGGTCATCCGGCCGCACTCCACGCTGACCTCCCTCCCACCCCCCGCCCAC ACTTACCTGTGGGATGGTTGTGGGTCATCCGGCCGCACTCCACGCTGACC TCGATGAGGGTCTCCAGCCGCTCAGGCTTCCAGTACCGCAGGCCGATGCA CATGGCCTTGGTGGCCGCTCCAAACCCTGAGCCTGTGTGGAGAAGGAAGA GCTAGTTTAGACTTCTGCTCCAATAATTCCACCCCTGACAATCTAGCTTT CATGAATAATTTTAAAAGTAGAAAAATTTGTGTAATAACATGTTATCAGA GTGTGGTTTAAATGAGCGAGCCATGGGCAGGCCACTCAAGTCCTGCAGCA GAAAGGAGATGGGGCAAATTCGGTTGCATCCAAGTGTCGGGTGTTAGTCA CTAAAAACAGAACGTTTGATGGCCTGGAGATATGCTCGTGATTTGCAGCA TGCTTTCAACGAGATGTTTTCCCTGTAAAAACAGCTTCATTGAGTTATAA CTACATACAACAAACTAGGCATAATGAAACATGCACGACCCTAAGATTTT TATACTGGTGTACCGCGGGACCCAGCACCCAGGCGCAGGGTGAACATAGG TGTACCCCGGGACCCAGCATCCACACGTAGAGTGAACATAGGTGTACCCC GTGACCCAGCATCCAGGTGCAGGATGAACATAGGTGTACCCTGGGACCCA GCACCCAGGCGTAGAGTGAACATAGGTGTACCCTGGGACCCAGCACCCAG GCGTAGAGTGAACATAGGTGTACCCTGTGACCCAGCACCCACACGTAGAG TGAACATAGGTGTACCCCGGGACCCAGCATCCACATGTAGAGTGAACACA GGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACACAGGTGTACC CCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCTGGGACC CAGCACCCACATGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCC AGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGCGTAG AGTGAACATAGGTGTACCCTGGGACCCAGCACCCAGGCGTAGAGTGAACA TAGGTGTACCCCAGGACCCGGCACCCATGCATAGAGTGAACATAGGTGTA CCCCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGA CCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCGGCAC CCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGTGT AGAGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAA CATAGGTGTACCCCAGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTG TACCCTGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCAG GACCCGGCACCCACGCATAGAGTGAACATAGGTGTACCCTGTGACCCAGC ACCGAGGCGTAGAGTGAACATAGGTGTACCCCGGGACCCAGCACCCAGGT GTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCACGCATAGAGTG AACATAGGTGTACCCTGTGACCCAGCACCCAGGCGTAGAGTGAATATAGG TGTAGCCCGTGACCCAGCACCCAGGCGTAGAGTGAACATAGGTGTACCCC AGGACCTGGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCA GCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCGGCACCCAG GTGTAGAGTGAACACAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGGG TGAACATAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGAGTGAACACA GGTGTACCCCGGGACCCAGCACCCAGGTGTAGAGTGAACACAGGTGTACC CCGGGACCCGGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACC CGGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCC AGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAG AGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACA TAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACACAGGTGTA CCCCGGGACCCAGCACCCAGGTGTAGGGTGAACATAGGTGTACCCCGGGA CCTGGCACCCAGGTGCAGGGTGAATACAGGTGTACCCCGGGACCCAGCAC CCACATGTAGAGTGAACATAGGTGTACCCCGGGACCCAGCACCCAGGCAC AGAGTGAACATAGGTGTACCCTGGGACCCAGCACCCAGGTGTAGAGTGAA CATAGGTGTACCCCGGGACCCAGCATCCACACGTAGAGTGAACACAGGTG TACCCCGGGACCCGGCACCCAGGCGCAGGGTGAACATAGGTGTACCCCGG GACCCAGCATCCACACGTAGAGTGAACACAGGTGTACCCCGGGACCCGGC ACCCAGGTGTAGAGTGAACATAGGTGTACCCCAGGACCCGGCACCCACGC ATAGAGTGAACGTAGGTGTACCCTGTGACCCAGCACCCACACGTAGAGTG AACACAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGGGTGAACATAGG TGTACCCCGGGACCCAGCACCCAGGTGTAGGGTGAACATAGGTGTACCCC GGGACCCGGCACCCAGGTGCAGGGTGAACATAGGTGTACCCCGGGACCCG GCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAG GCGCAGGGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAG TGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGCAGGGTGAACATA GGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACACAGGTGTACC CCGGGACCCAGCACCCAGGTGTAGGGTGAACATAGGTGTACCCCGGGACC CGGCACCCAGGTGCAGGGTGAACATAGGTGTACCCCGGGACCCGGCACCC AGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGCGCAG GGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACA TAGGTGTACCCTGTGACCCAGCACCCACACGTAGAGTGAACATAGGTGTA CCCCGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTATACCCCGGGA CCCAGCACCCAGGTGTAGAGTGAGCATAGGTGTACCCTGGGACTCGGCAC CCAGGCGCAGGGTGAACATAGGTGTACCCCGGGACCCAGCACCCACACGT AGAGTGAACATAGGTGTACCCCGGGACCCAGCACCCACACGTAGAGTGAA CACAGGTGTACCCCGGGACCCAGCACCCACACGTAGAGTGAACATAGGTG TACCCCGGGACCCAGCACCCACACGTAGAGTGAACACAGGTGTACCCCGG GACCCGGCACCCACACATAGAGTGAACATAGGTGTACCCCGGGACCCAGC ACCCAGGCGCAGGGTGAACACAGGTGTACCCCATGACCCAGCACCCAGGT GTAGAGTGAACATAGGTGTACCCCAGGACCCAGCACCCAGGCGCAGGGTG AACACAGGTGTACCCCGGGACCCAGCACCCAGGTGCAGAGTGAATGCCTC TGTTGACCCTGAAGCCGCCGGTGCCCTCTGCAATCCGTCCTCCTGCCTCT CCCAAGCCCCACTGCTGCGACCGTGCGTGTTACTCGGCGTGTTCCAGGCC CTGTGTAAACAGAATCACGGAGAACGTGCCGTGCTTTCCGCCTGGCTTTT GTCACTCCTTATAACTGCTCTGAGAAGCGCCCACGTTGTTGGGGATCAAT AGTGATTCCTTTTTATGGCTGAATAGCTCCCTCTTGCATTGATCTGCCAT GGCTGCTCTATCTGCAGACCTGCAGTTTGGGCTGTGTCCAGTCTGGGGCT CTGAGCATGAGGCACCAGATCCTGGTGTGGACAGAGGCTCTCTTCTCTTG GGCGAATGCTGGGGCAGAGCCTCCAGATCACGTGGTGATGAATGTTTAAC TTTTTTGTTTGTTTGAGATGGAGTCTTGCTCTGTGGCCCAGGCTGGAGTG CAGCAGCCTAATCTTAGCTCAGTGCACCTCCGCCTGCCAGGTTCAAGCAG TTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACACCACC ATGCCTGGCTAGTTTTTGTATTTTTAGCAGAGATGAGGTTTCACCTTGTT GGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCAGCCTGCCTTGGC CTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCCTGGCAGAATG TTTAACTTTTAAAGAAACTGCCAAATGGGTTTCCAGAGTCAGAGTGGTAG AACCATTTGATGTCCCTCCAGTAGATCTTCCACAGCCCTGACAGCACTTG CTACATTTTTAAAAATTTTAGCCATTCTGTTAGTTATGTAATGGTATCTC ATTGTGGTTTTATTTGCATTTTTCTAATGACGGAAGATGGTGAGCATGAT TTTGTGCTTATTGTCCACCCATATATCTTCTTTGGAGAAGTTTTGCCCAT GTTTTATTCTTTTAAAAAAATTTTATAGTTGGGCATGGTGGCTTATGCCT GTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAG GAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCTGTCTCTACTAAA AATACAAAAATTAAGTGGCATGGTGGCACGCACCTGTAGTCCCAGCTACT CTGGAGGCTGAGGCAGGCGAATTGCTTGAACCCAGGAGGTAGAGGTTGCA GTGAGCCGAGATTGTGCCACTGGGTGACAGAGCGAGACTCCATCTCAAAA AAAAAATTTCTTTTTTATAATAGAGATGGCATCTCAGTATGTTGCTCAGG CTGGGCTGGAACTCCTGGGTCCAAGTGATCCTCCTGGCTCAGTCTTCCAA CGTGCTGGGATTATAGGTGTGAGCCACCACACCTGGCCCTCTTGTCCATT TTTGTATGGGGTTGCTTGCTTTCTTCTTCTTAAGTTGGAAGAGTTCTTTA TGCATTTTGGACTCAAGTCCTTATCAGATATCTGCTTTGCAAATATTTTC TCCCAGCTTTGACTTGCCTTTTCATTCATTAAATAGAGTTTCCTGGAGAG CAGAAAAATGAATTTGGGAAGTATTCCTCTTCTTCAATCTTTTGGAAGAG TTATGTACAATTTATATTATTTATTCCTCAAACATTTGGTAAATACCCTG TGAAGCCATCAGGGACTGAAATTCTCTTTCCTTTTTTTTTTCTTTTTTTG AGACGGAGTCTCACTCTGACTCTGTTGCCCAGGCTGGAGTGCAATGGCAC AATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTTGTG CCTCAGCCTCCTGAATAGCTGGGACTACAGGTGTGCACCACCACGCCCAG CTAATTTTTGTATTTTTAGTAGAGGAGAGGGCTCACCATTTTGGCCAGGC TGGTCTCGAACTCCTGACCTCAGGTGATCTGCCGGCCTTGGCCTCCCAAA GTACTGGGATCACGGGTGTGAGCCACCGTGCCCAGCCTGGGCCTACAGTT TTCTTTGTATTTTTTTTTTTTTTTTTTTCCTGAGACGGCGTCTTGCTCTG TCGCCAGGCTGGAGTGCAGTGATGTGATCTCGGCTCACTGCAACATCCAC CTCCTGGGTTCAAGCAATTCTCCTGCTTCGGCCTCCTGAGTAGCTTGGAT TATAGGTGCCCACCACCATGTCTGGCTAATTTTTGTATTTTTAGTAGAGA CAGGGTTTTGCCATGTTGGCCAGCCTGGTCTCGAACACCTGACCTCAGGT GATCTACCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCA CCATGACTGGCCTTGTAATTTCTTCCATAAGATGTAATACTATTTAGATG ACCTTTCTCCTCTTGAGTGACCTTCGGTAGTTTATGTCTTTCAAAAACAT TTGTCCTTTTAATCTAAGTTGTTAAATGTATTGGCATAAAATTGTGAATA ATATTCCCTTATTTTCCTCTTAATTTCCGTAGACTCTGGTGATTTTACTC CTCTCGTTCATAGTGATGATTTGTCTTTCTCTTTTTTCCACATCAGTCTA GCTAGAGGATTCTCAATTGTTTTGATCTCCTGAAAGAACCAGCTTTTGGT TTTATTAATTTGCTCTACTCTTTTTCTGTTTTCAATCATTGATTTTCATG CTGATCTTCACTATTTTCTTTCTTCTGCTTTCTTTTGGCTTAGTTTGCTA TGAGTTTTCTGGTTTTAAAACGTGAAAATGAAAGCCAATGGCTGGAGACC TTCATGTTGAAATCACTGCCTATAACTGTGGGTTTCTCTAGTTCGCTTTG CAGCATTGTCAGTTTTTGCTTCATATATTCTGAAGATCTGTTATTAGGTA CAGAGACATCTAGGTTTGTTATGTCCCCCTGATGAACTGATCCATTTACT AGGATGAAATTACCTTCCTTATTCTTGGGAATATTCTTTGCTCCAAAATT TTACTGTATGTGTTACTAATATAGTAACTCCAGCTTTCTTTTGATTAGTG TTAGTGTGGTATATTTTTCCATCTTTTTTTTTTTTTTTGAGATGGAGTCT CACTCTGTGGCCTAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCA ACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGGGCATACCACCACACCCAGCAATTTTTGTATTTTTA GTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02083.hp2 HG02083.hp2	a0016 a0016	a0016c0066 a0016c0066	a0016c0066t0001 a0016c0066t0001	a0016c0066t0001g0091 a0016c0066t0001g0091	1	262	0.0038	-8738	c.379 others(17): Show c.379+3751_505+1805del		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	3/8					chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113444420	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0103 a0004c0005t0103	a0004c0005t0103g0253 a0004c0005t0103g0253	1	262	0.0038	0	c.379 others(5): Show c.379+5G>C		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7					chr13	TogoVar
ADRM1_chr20_62297997_62313862	62307832	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(340): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0006 others(10): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0016 a0002c0005 a0004c0015 a0005c0012 a0006c0013 a0007c0014 a0008c0018	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0011t0001 a0001c0016t0001 a0002c0005t0001 a0004c0015t0001 a0005c0012t0001 a0006c0013t0001 a0007c0014t0001 a0008c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(67): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0003g0050 a0001c0002t0001g0005 a0001c0002t0001g0060 a0001c0002t0001g0064 a0001c0002t0002g0008 a0001c0002t0002g0029 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0065 a0001c0006t0001g0001 a0001c0006t0001g0003 a0001c0007t0001g0024 a0001c0009t0001g0030 a0001c0011t0001g0002 a0001c0016t0001g0063 a0002c0005t0001g0005 a0004c0015t0001g0002 a0005c0012t0001g0006 a0006c0013t0001g0002 a0007c0014t0001g0012 a0008c0018t0001g0027	343	368	0.9321	0	c.856 others(5): Show c.856+4A>G		ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding	7/9					chr20	TogoVar
ADRM1_chr20_62297997_62313862	62308470	G G	GGTAA GGTAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp2 HG01943.hp2 HG02273.hp2 HG01243.hp2 HG01943.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	3	368	0.0082	4	c.111 others(17): Show c.1117+3_1117+6dupAAGT		ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding	9/9				INFO_REALIGN_3_PRIME	chr20	TogoVar
ADSL_chr22_40341500_40374367	40353069	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp2 NA19030.hp1 NA21309.hp1 HG02630.hp2 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0131 a0001c0001t0004g0032 a0001c0001t0002g0131 a0001c0001t0004g0032	3	302	0.0099	0	c.358 others(5): Show c.358-4G>A		ADSL	ENSG00000239900.14	transcript	ENST00000623063.3	protein_coding	2/12					chr22	TogoVar
ADSL_chr22_40341500_40374367	40362976	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	302	0.0033	0	c.101 others(6): Show c.1011-5T>C		ADSL	ENSG00000239900.14	transcript	ENST00000623063.3	protein_coding	9/12					chr22	TogoVar
ADSL_chr22_40341500_40374367	40364875	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0148 a0001c0001t0009g0148	1	302	0.0033	0	c.119 others(6): Show c.1192-5C>T		ADSL	ENSG00000239900.14	transcript	ENST00000623063.3	protein_coding	11/12					chr22	TogoVar
ADSS1_chr14_104719229_104752310	104740834	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03710.hp2 HG04199.hp2 HG03710.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0212 a0001c0002t0001g0215 a0001c0002t0001g0212 a0001c0002t0001g0215	2	402	0.0050	0	c.585 others(5): Show c.585-5T>G		ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	6/12					chr14	TogoVar
ADSS1_chr14_104719229_104752310	104741110	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp2 HG02486.hp2 HG03486.hp2 HG02451.hp2 HG02486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0063 a0001c0003t0001g0082 a0001c0003t0001g0107 a0001c0003t0001g0063 a0001c0003t0001g0082 a0001c0003t0001g0107	3	402	0.0075	0	c.667 others(5): Show c.667-7C>G		ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	7/12					chr14	TogoVar
ADSS1_chr14_104719229_104752310	104741247	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	402	0.0025	0	c.793 others(5): Show c.793+4T>C		ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	8/12					chr14	TogoVar
ADSS1_chr14_104719229_104752310	104743191	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0156 a0007c0012t0001g0156	1	402	0.0025	0	c.107 others(4): Show c.1073C>T	p.Ala others(6): Show p.Ala358Val	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	10/13	1115/1723	1073/1374	358/457		chr14	TogoVar
ADSS1_chr14_104719229_104752310	104744804	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18982.hp1 NA18982.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0098 a0006c0009t0001g0098	1	402	0.0025	0	c.107 others(6): Show c.1074-8T>C		ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	10/12					chr14	TogoVar
ADSS1_chr14_104719229_104752310	104744805	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18982.hp1 NA18982.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0098 a0006c0009t0001g0098	1	402	0.0025	0	c.107 others(6): Show c.1074-7T>G		ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	10/12					chr14	TogoVar
ADSS1_chr14_104719229_104752310	104744812	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18982.hp1 NA18982.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0098 a0006c0009t0001g0098	1	402	0.0025	0	c.107 others(4): Show c.1074G>C	p.Ala others(6): Show p.Ala358Ala	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	11/13	1116/1723	1074/1374	358/457		chr14	TogoVar
ADSS2_chr1_244403494_244456909	244424395	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	408	0.0025	0	c.407 others(5): Show c.407-8C>T		ADSS2	ENSG00000035687.10	transcript	ENST00000366535.4	protein_coding	4/12					chr1	TogoVar
ADSS2_chr1_244403494_244456909	244437776	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	408	0.0025	0	c.184 others(5): Show c.184-8C>T		ADSS2	ENSG00000035687.10	transcript	ENST00000366535.4	protein_coding	1/12					chr1	TogoVar
ADTRP_chr6_11708523_11783803	11766374	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01109.hp2 HG01496.hp1 HG02055.hp1 others(5): Show HG01109.hp2 HG01496.hp1 HG02055.hp1 HG02258.hp1 HG02559.hp1 HG02895.hp1 HG03098.hp2 HG03130.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0171 a0003c0003t0002g0211 a0003c0003t0002g0226 others(5): Show a0003c0003t0002g0171 a0003c0003t0002g0211 a0003c0003t0002g0226 a0003c0003t0002g0334 a0003c0003t0002g0350 a0003c0003t0002g0351 a0003c0003t0002g0352 a0003c0003t0002g0354	8	410	0.0195	0	c.290 others(3): Show c.290T>A	p.Phe others(5): Show p.Phe97Tyr	ADTRP	ENSG00000111863.13	transcript	ENST00000414691.8	protein_coding	3/6	334/1692	290/693	97/230		chr6	TogoVar
AEBP1_chr7_44099345_44119560	44109192	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0059 a0003c0002t0001g0059	1	426	0.0024	0	c.109 others(6): Show c.1096+8G>C		AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	8/20					chr7	TogoVar
AEBP1_chr7_44099345_44119560	44110007	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0041 a0001c0004t0001g0041	1	426	0.0024	0	c.115 others(6): Show c.1151-8G>A		AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	9/20					chr7	TogoVar
AEBP1_chr7_44099345_44119560	44110905	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02895.hp1 HG03195.hp1 HG02895.hp1 HG03195.hp1	a0006 a0010 a0006 a0010	a0006c0009 a0010c0024 a0006c0009 a0010c0024	a0006c0009t0003 a0010c0024t0003 a0006c0009t0003 a0010c0024t0003	a0006c0009t0003g0030 a0010c0024t0003g0030 a0006c0009t0003g0030 a0010c0024t0003g0030	2	426	0.0047	0	c.148 others(6): Show c.1486-8C>G		AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	12/20					chr7	TogoVar
AEBP1_chr7_44099345_44119560	44111156	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19060.hp1 NA19060.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0002 a0011c0017t0001g0002	1	426	0.0024	0	c.163 others(4): Show c.1633G>A	p.Val others(6): Show p.Val545Ile	AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	14/21	1954/4097	1633/3477	545/1158		chr7	TogoVar
AEBP1_chr7_44099345_44119560	44112970	TCTGTATC others(14): Show TCTGTATCTGTCCCCGGCCAGC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19082.hp2 NA19082.hp2	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0043 a0014c0016t0001g0043	1	426	0.0024	-21	c.257 others(33): Show c.2570-20_2570delCTGTATCTGTCCCCGGCCAGC	p.Thr others(5): Show p.Thr857fs	AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	19/21		2570/3477	857/1158		chr7	TogoVar
AEBP1_chr7_44099345_44119560	44112985	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0046 a0001c0004t0001g0046	1	426	0.0024	0	c.257 others(6): Show c.2570-6G>T		AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	18/20					chr7	TogoVar
AEN_chr15_88616340_88637281	88632279	G G	A A	splice_region_variant splice_region_variant	LOW	HG01243.hp1 HG02109.hp1 HG02559.hp1 others(5): Show HG01243.hp1 HG02109.hp1 HG02559.hp1 HG02886.hp1 HG02965.hp2 HG03139.hp1 HG03486.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0002 a0002c0002t0008g0048 a0002c0002t0008g0055 a0002c0002t0008g0002 a0002c0002t0008g0048 a0002c0002t0008g0055	8	440	0.0182	0	c.19 others(5): Show c.1985G>A		AEN	ENSG00000181026.15	transcript	ENST00000332810.4	protein_coding	4/4					chr15	TogoVar
AFAP1L1_chr5_149266859_149348637	149320388	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG00735.hp1 HG02451.hp2 others(1): Show HG00639.hp1 HG00735.hp1 HG02451.hp2 HG02486.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0009 a0001c0001 a0001c0003 a0008c0009	a0001c0001t0002 a0001c0003t0002 a0008c0009t0017 a0001c0001t0002 a0001c0003t0002 a0008c0009t0017	a0001c0001t0002g0261 a0001c0003t0002g0195 a0001c0003t0002g0215 others(1): Show a0001c0001t0002g0261 a0001c0003t0002g0195 a0001c0003t0002g0215 a0008c0009t0017g0157	4	286	0.0140	0	c.162 others(6): Show c.1626-3T>C		AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	13/18					chr5	TogoVar
AFAP1L1_chr5_149266859_149348637	149320468	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 HG00558.hp1 HG00597.hp1 others(13): Show HG00438.hp2 HG00558.hp1 HG00597.hp1 HG02040.hp2 HG02071.hp1 HG02572.hp2 HG02723.hp2 HG03579.hp1 NA18944.hp2 NA18954.hp2 NA18961.hp1 NA18971.hp1 NA18986.hp2 NA18992.hp2 NA19058.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0041 a0001c0001t0001g0083 a0001c0001t0001g0115 others(13): Show a0001c0001t0001g0041 a0001c0001t0001g0083 a0001c0001t0001g0115 a0001c0001t0001g0196 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0232 a0001c0001t0003g0016 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0062 a0001c0001t0003g0096 a0001c0001t0003g0140 a0001c0001t0003g0273 a0001c0001t0007g0160	16	286	0.0559	0	c.169 others(6): Show c.1698+5A>T		AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	14/18					chr5	TogoVar
AFAP1L1_chr5_149266859_149348637	149332881	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0191 a0004c0004t0001g0191	1	286	0.0035	0	c.215 others(6): Show c.2154+8C>T		AFAP1L1	ENSG00000157510.14	transcript	ENST00000296721.9	protein_coding	17/18					chr5	TogoVar
AFAP1L2_chr10_114289824_114409502	114294826	C C	G G	splice_region_variant splice_region_variant	LOW	HG00438.hp2 HG00642.hp1 HG00738.hp2 others(46): Show HG00438.hp2 HG00642.hp1 HG00738.hp2 HG01106.hp1 HG01168.hp1 HG02040.hp1 HG02273.hp2 HG02523.hp1 HG02622.hp2 HG02717.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03704.hp2 HG03831.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18747.hp2 NA18941.hp2 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18954.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18979.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19012.hp1 NA19056.hp1 NA19068.hp1 NA19070.hp1 NA19080.hp1 NA19081.hp1 NA20905.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0001c0016 a0001c0020 a0001c0030 a0013c0018	a0001c0001t0016 a0001c0002t0002 a0001c0002t0011 others(7): Show a0001c0001t0016 a0001c0002t0002 a0001c0002t0011 a0001c0003t0002 a0001c0003t0011 a0001c0012t0011 a0001c0016t0002 a0001c0020t0002 a0001c0030t0002 a0013c0018t0002	a0001c0001t0016g0135 a0001c0002t0002g0003 a0001c0002t0002g0021 others(46): Show a0001c0001t0016g0135 a0001c0002t0002g0003 a0001c0002t0002g0021 a0001c0002t0002g0030 a0001c0002t0002g0044 a0001c0002t0002g0078 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0112 a0001c0002t0002g0159 a0001c0002t0002g0183 a0001c0002t0002g0190 a0001c0002t0002g0199 a0001c0002t0002g0204 a0001c0002t0002g0228 a0001c0002t0002g0255 a0001c0002t0011g0213 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0045 a0001c0003t0002g0060 a0001c0003t0002g0062 a0001c0003t0002g0092 a0001c0003t0002g0096 a0001c0003t0002g0104 a0001c0003t0002g0120 a0001c0003t0002g0144 a0001c0003t0002g0147 a0001c0003t0002g0148 a0001c0003t0002g0165 a0001c0003t0002g0166 a0001c0003t0002g0210 a0001c0003t0002g0214 a0001c0003t0002g0223 a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0002g0254 a0001c0003t0002g0261 a0001c0003t0002g0262 a0001c0003t0011g0105 a0001c0012t0011g0088 a0001c0012t0011g0089 a0001c0016t0002g0127 a0001c0016t0002g0128 a0001c0020t0002g0258 a0001c0030t0002g0100 a0013c0018t0002g0091	49	262	0.1870	0	c.12 others(5): Show c.1216G>C		AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	19/19					chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114300440	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp1 HG02647.hp1 HG02886.hp1 others(4): Show HG02630.hp1 HG02647.hp1 HG02886.hp1 HG02965.hp1 HG03041.hp1 NA18906.hp2 NA21309.hp1	a0004 a0004	a0004c0009 a0004c0013 a0004c0009 a0004c0013	a0004c0009t0009 a0004c0009t0012 a0004c0013t0009 a0004c0009t0009 a0004c0009t0012 a0004c0013t0009	a0004c0009t0009g0009 a0004c0009t0009g0079 a0004c0009t0009g0218 others(4): Show a0004c0009t0009g0009 a0004c0009t0009g0079 a0004c0009t0009g0218 a0004c0009t0009g0242 a0004c0009t0012g0102 a0004c0013t0009g0020 a0004c0013t0009g0216	7	262	0.0267	0	c.178 others(6): Show c.1788+5A>G		AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	14/18					chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114308434	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18947.hp2 NA18993.hp2 NA18947.hp2 NA18993.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0011 a0001c0012t0011	a0001c0012t0011g0088 a0001c0012t0011g0089 a0001c0012t0011g0088 a0001c0012t0011g0089	2	262	0.0076	0	c.966 others(3): Show c.966C>T	p.Asp others(6): Show p.Asp322Asp	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	9/19	1013/3722	966/2457	322/818		chr10	TogoVar
AFAP1L2_chr10_114289824_114409502	114331796	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(170): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01952.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18979.hp2 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp1 NA19081.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0012 a0013	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0011 a0001c0012 a0001c0016 a0001c0019 a0001c0020 a0001c0022 a0002c0005 a0002c0015 a0003c0026 a0004c0009 a0004c0013 a0005c0010 a0006c0014 a0007c0017 a0010c0032 a0012c0034 a0013c0018	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(30): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0003t0002 a0001c0003t0003 a0001c0003t0011 a0001c0004t0001 a0001c0004t0008 a0001c0004t0014 a0001c0011t0013 a0001c0012t0011 a0001c0016t0002 a0001c0019t0001 a0001c0020t0002 a0001c0022t0018 a0002c0005t0003 a0002c0005t0005 a0002c0015t0007 a0002c0015t0019 a0003c0026t0015 a0004c0009t0009 a0004c0013t0009 a0005c0010t0006 a0006c0014t0003 a0007c0017t0001 a0010c0032t0007 a0012c0034t0004 a0013c0018t0002	a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 others(170): Show a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0236 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0004g0016 a0001c0001t0004g0075 a0001c0001t0004g0082 a0001c0001t0004g0095 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0169 a0001c0001t0004g0171 a0001c0001t0004g0178 a0001c0001t0004g0227 a0001c0001t0004g0230 a0001c0001t0008g0063 a0001c0001t0008g0073 a0001c0001t0016g0135 a0001c0001t0017g0136 a0001c0002t0002g0085 a0001c0002t0002g0098 a0001c0002t0002g0112 a0001c0002t0002g0159 a0001c0002t0003g0007 a0001c0002t0003g0026 a0001c0002t0003g0028 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0076 a0001c0002t0003g0086 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0189 a0001c0002t0003g0220 a0001c0002t0010g0027 a0001c0002t0010g0036 a0001c0002t0010g0038 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0045 a0001c0003t0002g0060 a0001c0003t0002g0062 a0001c0003t0002g0092 a0001c0003t0002g0096 a0001c0003t0002g0104 a0001c0003t0002g0120 a0001c0003t0002g0144 a0001c0003t0002g0147 a0001c0003t0002g0148 a0001c0003t0002g0165 a0001c0003t0002g0166 a0001c0003t0002g0210 a0001c0003t0002g0214 a0001c0003t0002g0223 a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0002g0254 a0001c0003t0002g0261 a0001c0003t0002g0262 a0001c0003t0003g0103 a0001c0003t0003g0119 a0001c0003t0003g0235 a0001c0003t0011g0105 a0001c0004t0001g0004 a0001c0004t0001g0181 a0001c0004t0001g0182 a0001c0004t0001g0196 a0001c0004t0001g0245 a0001c0004t0001g0248 a0001c0004t0008g0056 a0001c0004t0008g0215 a0001c0004t0008g0260 a0001c0004t0014g0015 a0001c0011t0013g0246 a0001c0012t0011g0088 a0001c0012t0011g0089 a0001c0016t0002g0127 a0001c0016t0002g0128 a0001c0019t0001g0184 a0001c0020t0002g0258 a0001c0022t0018g0154 a0002c0005t0003g0023 a0002c0005t0005g0125 a0002c0005t0005g0249 a0002c0015t0007g0121 a0002c0015t0019g0247 a0003c0026t0015g0157 a0004c0009t0009g0009 a0004c0009t0009g0079 a0004c0009t0009g0218 a0004c0009t0009g0242 a0004c0013t0009g0020 a0004c0013t0009g0216 a0005c0010t0006g0138 a0006c0014t0003g0049 a0006c0014t0003g0050 a0007c0017t0001g0130 a0007c0017t0001g0131 a0010c0032t0007g0013 a0012c0034t0004g0244 a0013c0018t0002g0091	173	262	0.6603	0	c.315 others(5): Show c.315+7A>G		AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/18					chr10	TogoVar
AFAP1_chr4_7753714_7944861	7763796	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0035 a0002c0005t0035	a0002c0005t0035g0317 a0002c0005t0035g0318 a0002c0005t0035g0317 a0002c0005t0035g0318	2	318	0.0063	0	c.241 others(6): Show c.2419-5T>C		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	17/17					chr4	TogoVar
AFAP1_chr4_7753714_7944861	7781372	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp2 HG02965.hp1 HG03540.hp1 HG02257.hp2 HG02965.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0030 a0001c0002 a0001c0030	a0001c0002t0030 a0001c0030t0038 a0001c0002t0030 a0001c0030t0038	a0001c0002t0030g0013 a0001c0002t0030g0018 a0001c0030t0038g0259 a0001c0002t0030g0013 a0001c0002t0030g0018 a0001c0030t0038g0259	3	318	0.0094	0	c.178 others(6): Show c.1782+4C>T		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	13/17					chr4	TogoVar
AFAP1_chr4_7753714_7944861	7800658	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01884.hp1 HG02258.hp1 others(8): Show HG01109.hp1 HG01884.hp1 HG02258.hp1 HG02717.hp2 HG02897.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0012 a0001c0003 a0001c0009 a0001c0012	a0001c0003t0017 a0001c0009t0009 a0001c0009t0041 others(2): Show a0001c0003t0017 a0001c0009t0009 a0001c0009t0041 a0001c0009t0042 a0001c0012t0018	a0001c0003t0017g0206 a0001c0003t0017g0207 a0001c0009t0009g0246 others(8): Show a0001c0003t0017g0206 a0001c0003t0017g0207 a0001c0009t0009g0246 a0001c0009t0009g0277 a0001c0009t0009g0278 a0001c0009t0009g0279 a0001c0009t0041g0202 a0001c0009t0042g0229 a0001c0012t0018g0199 a0001c0012t0018g0201 a0001c0012t0018g0203	11	318	0.0346	0	c.105 others(6): Show c.1055-5C>T		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	9/17					chr4	TogoVar
AFAP1_chr4_7753714_7944861	7819068	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00639.hp2 HG00735.hp2 others(17): Show HG00408.hp1 HG00639.hp2 HG00735.hp2 HG01099.hp2 HG01167.hp2 HG01516.hp1 HG01884.hp1 HG02040.hp1 HG02083.hp2 HG02293.hp2 HG03209.hp1 HG03239.hp1 NA18522.hp2 NA18940.hp1 NA18947.hp1 NA18950.hp2 NA18956.hp2 NA18966.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0012 a0003c0006 a0003c0013 others(1): Show a0001c0012 a0003c0006 a0003c0013 a0003c0041	a0001c0012t0018 a0003c0006t0005 a0003c0006t0019 others(3): Show a0001c0012t0018 a0003c0006t0005 a0003c0006t0019 a0003c0006t0051 a0003c0013t0005 a0003c0041t0005	a0001c0012t0018g0199 a0001c0012t0018g0201 a0001c0012t0018g0203 others(17): Show a0001c0012t0018g0199 a0001c0012t0018g0201 a0001c0012t0018g0203 a0003c0006t0005g0078 a0003c0006t0005g0095 a0003c0006t0005g0096 a0003c0006t0005g0097 a0003c0006t0005g0137 a0003c0006t0005g0142 a0003c0006t0005g0143 a0003c0006t0005g0145 a0003c0006t0005g0239 a0003c0006t0005g0249 a0003c0006t0019g0150 a0003c0006t0019g0264 a0003c0006t0051g0051 a0003c0013t0005g0107 a0003c0013t0005g0113 a0003c0013t0005g0232 a0003c0041t0005g0094	20	318	0.0629	0	c.822 others(5): Show c.822+8C>T		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	7/17					chr4	TogoVar
AFAP1_chr4_7753714_7944861	7838711	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp2 HG00621.hp2 NA18963.hp2 others(1): Show HG00423.hp2 HG00621.hp2 NA18963.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0049 a0001c0001t0014g0053 a0001c0001t0014g0056 others(1): Show a0001c0001t0014g0049 a0001c0001t0014g0053 a0001c0001t0014g0056 a0001c0001t0014g0065	4	318	0.0126	0	c.547 others(5): Show c.547-8G>A		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	5/17					chr4	TogoVar
AFAP1_chr4_7753714_7944861	7939653	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02027.hp1 NA19055.hp1 HG02027.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0006 a0001c0001t0001g0007	2	318	0.0063	0	c.-3+ others(4): Show c.-3+3G>A		AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	1/17					chr4	TogoVar
AFDN_chr6_167821911_167977023	167864544	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG01891.hp2 HG01109.hp2 HG01891.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0017 a0001c0007 a0002c0017	a0001c0007t0005 a0002c0017t0005 a0001c0007t0005 a0002c0017t0005	a0001c0007t0005g0273 a0002c0017t0005g0285 a0001c0007t0005g0273 a0002c0017t0005g0285	2	326	0.0061	0	c.106 others(5): Show c.106-7C>T		AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	1/33					chr6	TogoVar
AFDN_chr6_167821911_167977023	167875318	A A	AT AT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 NA18944.hp1 NA18946.hp2 others(5): Show HG00558.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18971.hp2 NA18988.hp2 NA19005.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0028 a0001c0002 a0002c0028	a0001c0002t0001 a0002c0028t0001 a0001c0002t0001 a0002c0028t0001	a0001c0002t0001g0031 a0001c0002t0001g0126 a0001c0002t0001g0160 others(5): Show a0001c0002t0001g0031 a0001c0002t0001g0126 a0001c0002t0001g0160 a0001c0002t0001g0166 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0302 a0002c0028t0001g0159	8	326	0.0245	1	c.579 others(6): Show c.579-8dupT		AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	4/33				INFO_REALIGN_3_PRIME	chr6	TogoVar
AFDN_chr6_167821911_167977023	167889207	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0041 a0001c0005t0001g0041	1	326	0.0031	0	c.898 others(5): Show c.898-8T>C		AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	6/33					chr6	TogoVar
AFDN_chr6_167821911_167977023	167889208	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02300.hp2 HG04199.hp2 HG02300.hp2 HG04199.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0211 a0001c0007t0007g0213 a0001c0007t0007g0211 a0001c0007t0007g0213	2	326	0.0061	0	c.898 others(5): Show c.898-7T>G		AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	6/33					chr6	TogoVar
AFDN_chr6_167821911_167977023	167902310	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG01358.hp2 HG00140.hp1 HG01358.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0108 a0001c0004t0001g0109 a0001c0004t0001g0108 a0001c0004t0001g0109	2	326	0.0061	0	c.158 others(6): Show c.1581-7C>T		AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	11/33					chr6	TogoVar
AFDN_chr6_167821911_167977023	167914317	AG AG	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00323.hp1 HG00741.hp2 others(28): Show HG00140.hp1 HG00323.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01358.hp2 HG02129.hp1 HG02165.hp1 HG02280.hp1 HG02523.hp2 HG02559.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03516.hp2 HG03710.hp1 NA18906.hp1 NA18950.hp2 NA18957.hp2 NA18970.hp1 NA18995.hp2 NA19056.hp1 NA19067.hp1 NA19072.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0010 a0013 a0001 a0010 a0013	a0001c0002 a0001c0004 a0010c0026 others(1): Show a0001c0002 a0001c0004 a0010c0026 a0013c0027	a0001c0002t0001 a0001c0004t0001 a0010c0026t0001 others(1): Show a0001c0002t0001 a0001c0004t0001 a0010c0026t0001 a0013c0027t0001	a0001c0002t0001g0210 a0001c0004t0001g0104 a0001c0004t0001g0108 others(28): Show a0001c0002t0001g0210 a0001c0004t0001g0104 a0001c0004t0001g0108 a0001c0004t0001g0109 a0001c0004t0001g0110 a0001c0004t0001g0195 a0001c0004t0001g0224 a0001c0004t0001g0225 a0001c0004t0001g0277 a0001c0004t0001g0278 a0001c0004t0001g0287 a0001c0004t0001g0288 a0001c0004t0001g0290 a0001c0004t0001g0291 a0001c0004t0001g0292 a0001c0004t0001g0293 a0001c0004t0001g0294 a0001c0004t0001g0295 a0001c0004t0001g0296 a0001c0004t0001g0297 a0001c0004t0001g0298 a0001c0004t0001g0299 a0001c0004t0001g0300 a0001c0004t0001g0301 a0001c0004t0001g0304 a0001c0004t0001g0305 a0001c0004t0001g0306 a0001c0004t0001g0307 a0001c0004t0001g0309 a0010c0026t0001g0119 a0013c0027t0001g0209	31	326	0.0951	-1	c.220 others(7): Show c.2204+6delG		AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	17/33				INFO_REALIGN_3_PRIME	chr6	TogoVar
AFDN_chr6_167821911_167977023	167915438	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(203): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(6): Show a0001 a0002 a0005 a0007 a0008 a0009 a0011 a0012 a0014	a0001c0001 a0001c0003 a0001c0005 others(21): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0012 a0001c0016 a0001c0024 a0001c0031 a0001c0032 a0002c0013 a0002c0014 a0002c0017 a0002c0022 a0002c0029 a0002c0030 a0005c0008 a0007c0021 a0008c0020 a0009c0019 a0011c0018 a0012c0023 a0014c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 a0001c0003t0001 a0001c0003t0021 a0001c0005t0001 a0001c0005t0015 a0001c0006t0001 a0001c0006t0013 a0001c0006t0017 a0001c0007t0001 a0001c0007t0005 a0001c0007t0007 a0001c0010t0001 a0001c0012t0003 a0001c0016t0020 a0001c0024t0001 a0001c0031t0001 a0001c0032t0001 a0002c0013t0001 a0002c0013t0002 a0002c0014t0001 a0002c0017t0005 a0002c0022t0001 a0002c0029t0001 a0002c0030t0001 a0005c0008t0002 a0007c0021t0001 a0008c0020t0002 a0009c0019t0003 a0011c0018t0002 a0012c0023t0011 a0014c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0215 a0001c0001t0001g0216 others(200): Show a0001c0001t0001g0001 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0002g0004 a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0095 a0001c0001t0002g0107 a0001c0001t0002g0123 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0188 a0001c0001t0002g0214 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0308 a0001c0001t0003g0096 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0006g0260 a0001c0001t0006g0263 a0001c0001t0014g0094 a0001c0001t0016g0197 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0032 a0001c0003t0001g0035 a0001c0003t0001g0039 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0047 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0053 a0001c0003t0001g0055 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0073 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0097 a0001c0003t0001g0105 a0001c0003t0001g0190 a0001c0003t0001g0205 a0001c0003t0001g0271 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0021g0062 a0001c0005t0001g0002 a0001c0005t0001g0026 a0001c0005t0001g0041 a0001c0005t0001g0042 a0001c0005t0001g0043 a0001c0005t0001g0048 a0001c0005t0001g0049 a0001c0005t0001g0052 a0001c0005t0001g0054 a0001c0005t0001g0056 a0001c0005t0001g0059 a0001c0005t0001g0063 a0001c0005t0001g0064 a0001c0005t0001g0065 a0001c0005t0001g0066 a0001c0005t0001g0072 a0001c0005t0001g0075 a0001c0005t0001g0080 a0001c0005t0001g0081 a0001c0005t0001g0083 a0001c0005t0001g0084 a0001c0005t0001g0085 a0001c0005t0001g0111 a0001c0005t0001g0189 a0001c0005t0001g0191 a0001c0005t0001g0276 a0001c0005t0001g0310 a0001c0005t0015g0074 a0001c0006t0001g0003 a0001c0006t0001g0311 a0001c0006t0001g0312 a0001c0006t0001g0314 a0001c0006t0001g0315 a0001c0006t0001g0316 a0001c0006t0001g0317 a0001c0006t0001g0318 a0001c0006t0001g0319 a0001c0006t0001g0320 a0001c0006t0001g0321 a0001c0006t0013g0178 a0001c0006t0017g0322 a0001c0007t0001g0284 a0001c0007t0001g0286 a0001c0007t0005g0273 a0001c0007t0007g0211 a0001c0007t0007g0213 a0001c0010t0001g0099 a0001c0010t0001g0101 a0001c0010t0001g0102 a0001c0012t0003g0279 a0001c0012t0003g0280 a0001c0016t0020g0112 a0001c0024t0001g0124 a0001c0031t0001g0046 a0001c0032t0001g0038 a0002c0013t0001g0034 a0002c0013t0002g0267 a0002c0014t0001g0020 a0002c0014t0001g0037 a0002c0017t0005g0285 a0002c0022t0001g0036 a0002c0029t0001g0323 a0002c0030t0001g0100 a0005c0008t0002g0248 a0005c0008t0002g0252 a0005c0008t0002g0253 a0007c0021t0001g0203 a0008c0020t0002g0259 a0009c0019t0003g0281 a0011c0018t0002g0239 a0012c0023t0011g0272 a0014c0015t0001g0082	206	326	0.6319	0	c.256 others(6): Show c.2565+5T>G		AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	19/33					chr6	TogoVar
AFDN_chr6_167821911_167977023	167922848	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	326	0.0031	0	c.290 others(6): Show c.2909-8C>T		AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	21/33					chr6	TogoVar
AFF1_chr4_86930011_87146039	87046291	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0116 a0001c0002t0005g0116	1	294	0.0034	0	c.159 others(5): Show c.159+5T>G		AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	3/20					chr4	TogoVar
AFF1_chr4_86930011_87146039	87127011	A A	AT AT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00621.hp1 HG00639.hp1 others(49): Show HG00280.hp1 HG00621.hp1 HG00639.hp1 HG01074.hp2 HG01175.hp2 HG01517.hp2 HG01891.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03195.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18940.hp2 NA18944.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp1 NA18970.hp1 NA18981.hp2 NA18988.hp1 NA18994.hp1 NA19001.hp1 NA19009.hp1 NA19066.hp2 NA19070.hp1 NA19077.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA20752.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0003 a0001c0028 others(1): Show a0001c0001 a0001c0003 a0001c0028 a0011c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0019 a0001c0001t0039 a0001c0001t0040 a0001c0001t0051 a0001c0003t0020 a0001c0028t0002 a0011c0018t0037	a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0002g0013 others(49): Show a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0089 a0001c0001t0002g0160 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0002g0226 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0255 a0001c0001t0002g0263 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0018g0023 a0001c0001t0018g0060 a0001c0001t0019g0247 a0001c0001t0019g0262 a0001c0001t0039g0026 a0001c0001t0040g0055 a0001c0001t0051g0109 a0001c0003t0020g0178 a0001c0003t0020g0183 a0001c0028t0002g0038 a0011c0018t0037g0039	52	294	0.1769	1	c.281 others(7): Show c.2812-5dupT		AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	14/20				INFO_REALIGN_3_PRIME	chr4	TogoVar

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