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
FUS_chr16_31175139_31196605	31190739	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	346	0.0029	0	c.129 others(6): Show c.1293-3T>C		FUS	ENSG00000089280.19	transcript	ENST00000254108.12	protein_coding	12/14					chr16	TogoVar
FUS_chr16_31175139_31196605	31191377	A A	AT AT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp1 HG01496.hp1 HG01928.hp2 others(11): Show HG00621.hp1 HG01496.hp1 HG01928.hp2 HG01981.hp1 HG02015.hp1 HG02129.hp1 HG02135.hp2 HG02451.hp2 HG02723.hp1 NA18949.hp2 NA18951.hp2 NA18974.hp1 NA18975.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0003 a0001c0005t0001 a0001c0006t0001	a0001c0001t0001g0013 a0001c0001t0001g0047 a0001c0002t0001g0009 others(7): Show a0001c0001t0001g0013 a0001c0001t0001g0047 a0001c0002t0001g0009 a0001c0002t0001g0059 a0001c0002t0001g0067 a0001c0002t0001g0072 a0001c0003t0001g0009 a0001c0004t0003g0051 a0001c0005t0001g0052 a0001c0006t0001g0013	14	346	0.0405	1	c.154 others(7): Show c.1542-5dupT		FUS	ENSG00000089280.19	transcript	ENST00000254108.12	protein_coding	14/14				INFO_REALIGN_3_PRIME	chr16	TogoVar
FUT11_chr10_73767276_73781219	73773182	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	394	0.0025	0	c.709 others(5): Show c.709-8C>T		FUT11	ENSG00000196968.11	transcript	ENST00000372841.8	protein_coding	1/2					chr10	TogoVar
FUT2_chr19_48690971_48710951	48697403	CCTGTAAT others(10070): Show CCTGTAATCCCAGCACTTTGGGAGGCTGAGGAAGGAGAACAGAGGACCTC CTGAGGCCAGGAGTTTGAGATCAGTGTGGGCCACATAGCAAGACCCCCTC CCCACCATCCCTACAAAAAAAGCAATTCAAAAAAAATAATGCCTTCAGGC AGAATGGGAGTGGTGCTTGGTTCAAGCCTGACATAAGTGTGAGTTTGGGG CACAAATTCTGCTCTGAATACCAGGGACAGCCCATGTAATACAGCATTTC CCTTTGTGCCCACGCAGCCCTAAGGGAGGTGTGGTTTGTTGTTGTTGTTG TATCTTTTTGAGATGGATTTTTGCTCTTGTTGCCCAGGCTGGCATGCAAT GGTACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTC TCCTTCCTCAGCCTCCCAAGTAGCTGAGATTACAGTCATGAGCCACCATG CCTGGCTAATTTTTTGTATTTAGTAGAAATGGGGTTTCACCATATTAGTC AGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTAC CAAAGTGCTGGGATTACAGGCATGAGCCACTGCACTGGCTCTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCACTGTGTTGTGCAGGCTGGAGT GCAATGGTGTGATCTCAGCTCACTGAAACCTCTGGGGAGGTGTTGTTTTT ATCCCTCCCCACAACCCCCTGTTGATGGACAGACAAGGACAATGAAACAC AGAGAGGTAAAAGCCCTGGGTTAAAGTCACACAGCACATAAAAGGTTCCT GATCATGCCGTGCAGGGCATCTCGCCAAACCTCAAAAATTCACAATCTCA TAGCGCAGCTTGCTCTGTGAGGCCTCCCCACCTCTTCCTTCTCTCCTTCC AGGCTCCAGTCAAGGTCAGTGCCCAGCTTCCTGCTCTGGGCCACTCAGCA GCCACCTTCCTCCTTCCTGGGTAAGGAGGTAGGGAGCTACCAAGGAGGCA GGGACATCCGTGTAGAACATTCTGCTTTTCTTTTTTCTTTTTTTTTAAGA TAGAGCCTGACTCTGTCGCCCAGGCTGGAGTGCAGCTGTAGTGTAATGGC ACAATCGCAGCTCACCACAACCTCCATCTCCCAGGTTCAAGTGGTTCTCC TGCCTCAGCCTCCTGAGTAGCTGTGATTACAGGCATGTGCCACCACGCCT GGCTAATTTTTGTATTTTTAGTAGCGACGGGGTTTCTCCATGTTGGTCAG GCTGCTTTCAAACTCCTGACCTCAGGTGATCCGCCCCCGCTTGGCCTCCC AAAGTGCTGGAATTACAGGCGTGAGCCACTGCGCCTGGCCTAATTTTCTC TAAAATAGAGACAAGTTCTCACTATGTGGTCCAGGCTGATCTCGAACTCC TGAACTCAAGCAATCCTCCCAGCTCAGCCTCCCAAAGTGCTAGCATTACA TGTGTGAGCCATCATGCCTGGTCCCTGTCTGTTTCATTCTCCCTGTCTCT CTAGTCCTGCCTCTCTCTGTGTCTTCTGGTCTTTTTCTCTATTTGTCTCT TCCTCTGTCCCTTTTATCATCTCTGTCCCTTCCCTCCCTCCCTCCCTCCC TTCCTTCCTTCCTTCCTTCCATAGGTGAGAAAAAGTAGCATCTTTTCCTC ACCTATCACAAAGTTTGCAGCTGGGGCACCTACAGTAAAAGGTTAACAGA CACAAGCATAACAAATGTATTTAAGGCAAGTGTTGACATGGGAGCCTTCA GAAATGAAGGCCTAAAGAAACAGGGAAACCTGGGTGGGTTTTTTGTTTTG TTTTGTTTTTAGATGGAGTTTTACTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCTTAGCTTACTGACTGCAATCTCTGCCTTCCATGATCAAGTGA TTCTCCTGCCTCAACCTCCCCAGTAGCTGGGATTACAGGTGCGCGCCACC ATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACTATGTT GGCCAGACTGGTCTCGAACTGCTGACCTCAGGTGATCCACCCACTTTGGC TTCTGGAAGTTCTGGCATTACAGGCGTGAGCCACTGTGCCCGGCTACCTC CCGTTCTATGATCTATGGTTTAAACGCTACATTTGACCACTATCAATACT CCCAGTATCAAAACTGGGAAACCTGGGTTCTTCACCCAGAGCCTAAAACG AACAGCATTCTTTGCCTTGTGGGTGACAATAGCAAACATTTACCGCCTGT GTATATGTGCCAGACACTGTTTTAATCCTCAGAGAGGTGATGTCACTTGC CCAAAATCACACAGCTCGTGACTGTGAGTCTGAAATTGGCCAGAGCTTGT GCACCTAGCCACTGGTGGTGATGTGTCTTTGAGTCATCGAGTCCAGCATT CTGTGTTGGACTTAGTGAAAGGATATACTTTTGTAGTGATGAGAAAGGAG CTTTATCTAGAATTTGTGAGGCCAGGCATGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTG AGACCAGCCTGGTCAACATGGTAAAACCCCGTCCGACTAAAAATACAAAA ATTAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCAGGAGGC TGAGGCAAGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCA AGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTC AAAAAAAAAAAAAAAAAAAAAAGAAAAGGAAAAGAAGTGAACTGGTTCAA AGACCATAATCATACATATCACACAAGACTGCAAGCGGACCAGGGTCAGT TAATTTAGCGGCTCCACAAAGTCATCAGTCACCTGAGCTCCATCCATCTT CACATGCTGTGCTACCATTTATTTTATTTTATTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC CGCAAGTTGCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAACCTCCTG AGTAGCTGGGACTATAGGCGCCCACCACCACACCCGGCTAATTTTTTTAT ATATATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCAGCCAGCTACCATTTCTTAGCTGTAT CATCTCACGGTCCCAAAAGGGCTGCTACACATCCAGCCATCACATGCAGA TAATTTCTTTCAAAAACAGCAGAAAGAGGCTCGTTCTTGTCTTGGTCCCT TTTGAAGAATGAATGAAACCTTCCTAAGCCTTCCAGCAACTCCCCCCACA ACTCCGATGGGTAGGAATTGTCACATAACCATGTGGCCCGATAGGAGGCA AAAGAAATGAGACTTCTGGGATTAGTTTAGCCTCAGATTCTGCAGCTGAG AAGTTGATCAGCCACCTCTGAAGGACAAGCAGCTTGCAGAAAATTAGGGT GGTGTTACCAAGGAGAAAAGGGGAAATGGCTTTAGAGTAGACAACAGGGA TGCCCTGAGGGGTTGTGTAGGTTGTTCACTGCACGAAGTCCCCTGGTCAA GAAGGTAAGCGGGGTTTAAACAGACCCACAGTCTACTCATCAAACCAGGT GTCCTTGGCATTGTGTCCACCCAGAGAGCTCACTATTTTCTTTTCTTTTC TTTTCTTTTTTTGAAATGGAGTCTTGCTGTGTCCCCCAGGCTGGAGTGCA GTGGCATGATCTTGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAAT TCTCCTGCCTCAGCCTCCCGAGTTCAAGCAATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGATTACGGGCGTCCGCCACCACACCTGGCTAATTTTTGT ATTTTTAGTAGAGACAGGGCCTTGTCATGTTGGCCAGGTTGGTCTCCAGC TCCTGACCTCAGCTAATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCACAACTCATCTTTTAGAGCCAGCC TACACTTGTCATAGGCCATGGCCGATGAATGGGAAGTCCACGGTGGAGCT GGGTGTTCCTCTCAAGTTCAACTGGCTGCGGCCAGGAGGGCAGGCAGGCC AGGTGGACAATTTCCCTTCAAAGTGGATACAGGCAGGACATGCAAAGATG AATATCTCTGGCACTGGACTCTGGCAAGTAGGAAAATAAAAACAAAAGAT GAACATCTTGGGCCGGGCGCGGTGGCTCACATCTGTAATCCCAGCACTTT GCGAGGCTGAGGCAGAAAGATCACGAGGTCAGGAGTTCGAGACTAGCCTG ACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAGTTAGCCAGG CGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGA GTATAGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCAGAGATCGTGCC ATTGCACTCCAGCCTGGGTGACAGAGATTCCATTTCAAAAAAAAAGAACA TCTCTACAAACTGGATCACCAGTAAATAATAGCTACATATACTTGTACTC ACCATATGTGGACACCCACATATGTACACTCAGTCGATAAACACCCACAT TTAAACATACCATGTGGGCCAGGTGCAGTGGCTCACGCCTATAATCTGAG CACTTTGGGAGGCCAAGGTGGGAAGATCACTTGGGCCTAGGAGTTTGAGA CCAGCCTGACCAACATACTGAGACCTTATCTCTACAAAAGAGAATTTGTT TTTAGTTAGCTGGGCGTGGTGATGTGCACCTGTAGTCCCAACTACTCGGG AGGCTAAGGCAGGAGGATTGCTTGAGCCTAGGAGGTCAAGGCTACAGTGA GCCACGTTCTCACCACTGCACTCCAGCCCAGGTGGCAGAGCAAGATCCTG TCTCAAAAAATAAATAAAAAATTAATAAACAAAAAATGCATACAATGTAT AGATACACAAAGTGTATATATATACATATATATGTATACACATTCACATA TACACACATGCTGTGTTCACAATCACCTAGATGACATATGTATGTGTATA CATACTTACACATATACCCTTACATGTACACGATATATCTCTACCCATAC ACTACCATGTACACATGTCCATTTGTACACAGCTGTATATGTACACACAC AATTTTGCACACACCTGTATATGTATACAATGTATGGATCCCCATATCCA CATTACACACAATGTGTACGCATCTACCTGTGTACACACACCCACCTATG AACACAATGTAGACACATCTGTATAAACACACTTGAGATACATGCCTGTG CACATAGGCAAGTATGTGCCAAGTATTTACACACCTGAAGTAGAAGCACA CACACACCCACACTATGCCTGCACACCACCGCATGGCCACGTTCACCAGC GCCCCGGGCCTCCATCTCCCAGCTAACGTGTCCCGTTTTCCTCCCCTGAC AGCCATGCTGGTCGTTCAGATGCCTTTCTCCTTTCCCATGGCCCACTTCA TCCTCTTTGTCTTTACGGTTTCCACTATATTTCACGTTCAGCAGCGGCTA GCGAAGATTCAAGCCATGTGGGAGTTACCGGTGCAGATACCAGTGCTAGC CTCAACATCAAAGGCACTGGGACCCAGCCAGCTCAGGGGGATGTGGACGA TCAATGCAATAGGCCGCCTGGGGAACCAGATGGGCGAGTACGCCACACTG TACGCCCTGGCCAAGATGAACGGGCGGCCCGCCTTCATCCCGGCCCAGAT GCACAGCACCCTGGCCCCCATCTTCAGAATCACCCTGCCGGTGCTGCACA GCGCCACGGCCAGCAGGATCCCCTGGCAGAACTACCACCTGAACGACTGG ATGGAGGAGGAATACCGCCACATCCCGGGGGAGTACGTCCGCTTCACCGG CTACCCCTGCTCCTGGACCTTCTACCACCACCTCCGCCAGGAGATCCTCC AGGAGTTCACCCTGCACGACCACGTGCGGGAGGAGGCCCAGAAGTTCCTG CGGGGCCTGCAGGTGAACGGGAGCCGGCCGGGCACCTTTGTAGGGGTCCA TGTTCGCCGAGGGGACTATGTCCATGTCATGCCAAAAGTGTGGAAGGGGG TGGTGGCCGACCGGCGATACCTACAGCAGGCCCTGGACTGGTTCCGAGCT CGCTACAGCTCCCTCATCTTCGTGGTCACCAGTAATGGCATGGCCTGGTG TCGGGAGAACATTGACACCTCCCACGGTGATGTGGTGTTTGCTGGCGATG GCATTGAGGGCTCACCTGCCAAAGATTTTGCTCTACTCACACAGTGTAAC CACACCATCATGACCATTGGGACGTTCGGGATCTGGGCCGCATACCTCAC GGGCGGAGACACCATCTACCTGGCCAATTACACCCTCCCCGACTCCCCTT TCCTCAAAATCTTTAAGCCAGAGGCAGCCTTCCTGCCGGAGTGGACAGGG ATTGCCGCAGACCTGTCCCCCTTACTCAAGCACTAATGCTGGCCCATTCT TTGAGACCTTTTCTCCTTCTCTGCCTCCCTCAAGATGAGTGCCCGGGCAT GAGAAGCACATGGTTCCATGAGCAGGACCCATCTCTCTTCTGTGAAGATG CGTTGGGCTGCAAGTAACAGAAATCTCAGTGAACAGTGGCCTGGCGTGGT GGCTCATGCCTGTAATGCTCGCACTTTGTGAGGCCAGGGTGGGTGGATCA CTTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCAT CTCGACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAA TCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCACTTGAACCCAGGAGG CGGAGGTTGCAGTGAGCCAAGATGGTGCCGCTGCACTCCAGTCTGGGTGA CACAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAA GAAATGAATGGGTTCAAAGACCATAATCATGCATATCACATAAGACCAGA AGTGGCCCAGGTCCAGGGTCAGTTAATTTAGCGGCTCCACAAAGTCATCA GTCACCTGAGCTCCATCCATCTTCACATGCTGTGCTACCATTTCTTAGCT GTATCATCCCATGGTCCCAAAAGGGCTGCTACACATCCAGCCATCACATG CAGATAATTCCTTTCAAAAACAGCAGAAAGAGGCTCGTTCTTGTCTTGGT CCCTTTTGAAGAATGAATGAAACCTTCCTAAGCCTTCCAGCAATTTCCCC CCAACTCCGATGGGTAGGAATTGTCACATACCCATGTGACCCGATAGGAG GCAAAAGAAATGAGACTTCTGGGATTAGTTTAGCCTCAGATTCTGCAGCT GAGAAGTTGATCAGCCACCTCTGAAGGACATGCAGCTTGCAGAAAATTAG GGTGGTGTTACCAAGGTGAAAAGGGGAAATGGCTTTAGAGTAGACAACAG AGATGCCCTGAGGGGTTGTGTAGGTTGTTCACTGCAGGAAGTCCCCTGGT TAAGAAGGCAAGTGGGGTTTAAACAGACCCACAGTCTACTCATCAAACCA GGTGTCCTTGGCATTGTGTCCACCCAGAGAGCTCACTGTTTTCTTTTCTT TTTCTTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTGCATCCCC CAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAGCCTCCGCCTCC CAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGATTACA GGTGCGTGCCACCACGCCCAGCTAATTTTTATATGTTTAGTGGAAATGGA GTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCATGATCCG CCTTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTTAGCCACTGCGC CCGGCCCTAGAGCTCACTGTTTTCTAGTTAGTCCATCTGGAAGTGGAGCC TTTTTCCAGTTTGCACAAATGTGCCATATTGGCTTGTAGCTGGCATGCAT CCAAGTCCATAGGTCCTGCCTCTTCAATCCTGGCTTTCTAGGGCCTGGGA TGATCATTGCTAGAACTGAGAGACCAGCCTGGCTCAGTGAACTTCAGGGC GTTCCGTTCATTCTTTCAGTAAATGTTTGCAGCACATGTGTTACATGTCA GGCAGTGAAACCCCCCACAGCAGCCTTCCCTCTCAGAGGATACATTTGTA ACCATTACACAGTCATCAAAGGAATAATTTTTTTTAATCACCAGTGTGCA TACAGTCATGGAGTTGGGTATTCCCAGCTACCAGGGAGGCTGAGGTGGGA GGATTGCTTGATGCCAGGAGTTAGGGAATATAGTGCACCGTGATTGGACT TGCGAATAGCCACTGCACTGCGGCCTGGACGACGTAGTGATACCCTGACT CTTATAAATAAATAAATGAATAAACACAATTATGACTTTGCGGATGGGAG AAAAGGTTCTCTGAGAGCGTATTACATAAGTATCACATGAACTCCAAAAT ACATCTTAGGCCAGGCATGGTGGCTGTAATCCCAGCACTTTGGGAGGGTA AGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGGCAACA TAGTGAAACCCTGTCTCTACTAAACATACAAAACATTAGCCAGGGGTGGT GGTGCAGACCTGTAGTCCCAGCTACTTGGCAGGCTTAAGCAGGAGAATCG TTTGCACCAGGGAGGCAGAGGTTGCAGTGAGCCAGGATCACACCATTGCA CTCTAGCCTGGACAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAA TTCTTAAGAGTAGATGGAATCCTATTACAAGTCTGGATCAAAAAGGCAGC TTTGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGC TGAGGCAGATGGATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAA CATAGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTAGGCGTGGT GGTGCATGCCTGTAATCCCAGCTGCTAGGGAGGCTGAGACAGAAGAATCG CTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCACACCATTGCA CTGCAGCCTGGGCAACAAGAGCGAAACTTGGTCAAAAAAAAGAACAAGGC AACTTTTACAACGATTTTTTAGATCTCAATATTACAGTATTTTCTCCAGA CTACCCACAAATACATACTGTGCACCTATCATGTATCAGAAAGCAATCTA GGAGATACGATCCCTGCTCTCAAGACGGCATTAACAAATCACTTCAAAAT ATAATTGGTACAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAACACT TTGGGAGGCCAAGGTGGCAGGGTCACTTGAGAGCAAGAGTTCAAGACCAG CTTGGGCAACATAGGGAGATCCTGTCTCTACAAAAAATAAAAAACTAACT GGGTATAGTGGAATACAACTGTAGGACCAGCTACTCGGAAGGCTGAAGTG GGAGGATCAATTGAGCCCAGGAGTTTGGGGCTTCAGTGAGCCACAATCAC ACCTGTGCATAGCCACTGCATTCCAAAGTCGCAACATAGCAAGACACCAT CACTAACAAAATTTTTAAAAATCGAAAAGATACAGGCCAGGCGTGGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAA AGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGCCTCTA CTAAAAATACAAAAATTAGCTGCTGTGGTGGCACGCACCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAATCCGGGAGGTGGAGG TTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGCCAGTAGCGCG AGACTCCGTCTAAAAAAAAAAAAGATAATTGAAAAGATACAATTAGATCC TGAGGCAAGCAGGTGCTATGGCTCACAT	C C	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG03017.hp1 HG04184.hp2 HG04199.hp1 others(1): Show HG03017.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0013 a0000c0000t0013	a0000c0000t0013g0025 a0000c0000t0013g0079 a0000c0000t0013g0025 a0000c0000t0013g0079	4	394	0.0102	-10077	c.-3+ others(13): Show c.-3+1315_*3492del		FUT2	ENSG00000176920.14	transcript	ENST00000425340.3	protein_coding	2/2					chr19	TogoVar
FUT5_chr19_5860826_5875540	5865826	T T	C C	splice_region_variant splice_region_variant	LOW	HG02258.hp1 HG02965.hp2 HG03195.hp1 others(4): Show HG02258.hp1 HG02965.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0024 a0002c0002 a0002c0024	a0002c0002t0010 a0002c0024t0019 a0002c0002t0010 a0002c0024t0019	a0002c0002t0010g0018 a0002c0002t0010g0049 a0002c0024t0019g0131 a0002c0002t0010g0018 a0002c0002t0010g0049 a0002c0024t0019g0131	7	452	0.0155	0	c.77 others(4): Show c.775A>G		FUT5	ENSG00000130383.7	transcript	ENST00000588525.1	protein_coding	2/2					chr19	TogoVar
FUT5_chr19_5860826_5875540	5867737	G G	T T	splice_region_variant splice_region_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(298): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0008 a0009 a0010 a0011 a0013	a0001c0001 a0001c0006 a0001c0012 others(18): Show a0001c0001 a0001c0006 a0001c0012 a0001c0029 a0001c0030 a0001c0031 a0001c0033 a0001c0035 a0001c0036 a0002c0002 a0002c0004 a0002c0023 a0003c0003 a0003c0013 a0003c0015 a0004c0005 a0008c0028 a0009c0034 a0010c0021 a0011c0032 a0013c0027	a0001c0001t0001 a0001c0001t0017 a0001c0006t0001 others(27): Show a0001c0001t0001 a0001c0001t0017 a0001c0006t0001 a0001c0012t0001 a0001c0029t0001 a0001c0030t0001 a0001c0031t0001 a0001c0033t0001 a0001c0035t0001 a0001c0036t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0010 a0002c0004t0006 a0002c0004t0013 a0002c0023t0002 a0003c0003t0001 a0003c0003t0008 a0003c0003t0018 a0003c0013t0002 a0003c0015t0008 a0004c0005t0001 a0004c0005t0002 a0004c0005t0016 a0008c0028t0001 a0009c0034t0001 a0010c0021t0002 a0011c0032t0001 a0013c0027t0002	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0015 others(87): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0017g0142 a0001c0006t0001g0056 a0001c0012t0001g0028 a0001c0012t0001g0108 a0001c0029t0001g0154 a0001c0030t0001g0139 a0001c0031t0001g0141 a0001c0033t0001g0160 a0001c0035t0001g0144 a0001c0036t0001g0145 a0002c0002t0001g0048 a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0017 a0002c0002t0002g0023 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0031 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0053 a0002c0002t0002g0060 a0002c0002t0002g0066 a0002c0002t0002g0071 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0002g0088 a0002c0002t0002g0096 a0002c0002t0002g0111 a0002c0002t0002g0124 a0002c0002t0006g0018 a0002c0002t0006g0089 a0002c0002t0006g0107 a0002c0002t0010g0018 a0002c0002t0010g0049 a0002c0004t0006g0004 a0002c0004t0006g0029 a0002c0004t0006g0047 a0002c0004t0006g0090 a0002c0004t0006g0113 a0002c0004t0013g0057 a0002c0004t0013g0126 a0002c0004t0013g0152 a0002c0023t0002g0063 a0003c0003t0001g0095 a0003c0003t0008g0010 a0003c0003t0008g0038 a0003c0003t0008g0081 a0003c0003t0008g0085 a0003c0003t0008g0132 a0003c0003t0008g0137 a0003c0003t0018g0062 a0003c0013t0002g0032 a0003c0015t0008g0136 a0003c0015t0008g0158 a0004c0005t0001g0020 a0004c0005t0001g0104 a0004c0005t0001g0112 a0004c0005t0001g0125 a0004c0005t0002g0019 a0004c0005t0002g0117 a0004c0005t0002g0159 a0004c0005t0016g0140 a0008c0028t0001g0138 a0009c0034t0001g0143 a0010c0021t0002g0135 a0011c0032t0001g0150 a0013c0027t0002g0123	301	452	0.6659	0	c.-12 others(3): Show c.-12C>A		FUT5	ENSG00000130383.7	transcript	ENST00000588525.1	protein_coding	2/2					chr19	TogoVar
FUT6_chr19_5825408_5844702	5832578	A A	C C	splice_region_variant splice_region_variant	LOW	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(161): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02056.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18981.hp1 NA18984.hp1 NA18987.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19010.hp2 NA19012.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 others(3): Show a0001 a0005 a0007 a0009 a0014 a0015	a0001c0001 a0001c0006 a0001c0008 others(6): Show a0001c0001 a0001c0006 a0001c0008 a0001c0009 a0005c0007 a0007c0012 a0009c0013 a0014c0019 a0015c0021	a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 others(28): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0058 a0001c0006t0007 a0001c0006t0009 a0001c0006t0025 a0001c0008t0012 a0001c0008t0040 a0001c0009t0015 a0001c0009t0033 a0001c0009t0047 a0001c0009t0059 a0005c0007t0007 a0005c0007t0009 a0007c0012t0002 a0009c0013t0027 a0014c0019t0006 a0015c0021t0002	a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0021 others(54): Show a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0047 a0001c0001t0002g0056 a0001c0001t0002g0104 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0006g0008 a0001c0001t0006g0027 a0001c0001t0006g0102 a0001c0001t0006g0129 a0001c0001t0013g0012 a0001c0001t0014g0031 a0001c0001t0014g0101 a0001c0001t0014g0103 a0001c0001t0014g0113 a0001c0001t0017g0030 a0001c0001t0021g0049 a0001c0001t0022g0100 a0001c0001t0022g0108 a0001c0001t0023g0050 a0001c0001t0024g0051 a0001c0001t0026g0046 a0001c0001t0042g0107 a0001c0001t0043g0110 a0001c0001t0044g0099 a0001c0001t0045g0109 a0001c0001t0046g0097 a0001c0001t0058g0139 a0001c0006t0007g0024 a0001c0006t0009g0010 a0001c0006t0009g0045 a0001c0006t0009g0073 a0001c0006t0025g0038 a0001c0008t0012g0009 a0001c0008t0012g0037 a0001c0008t0040g0068 a0001c0009t0015g0020 a0001c0009t0015g0130 a0001c0009t0033g0063 a0001c0009t0047g0070 a0001c0009t0059g0149 a0005c0007t0007g0006 a0005c0007t0007g0094 a0005c0007t0007g0095 a0005c0007t0009g0044 a0005c0007t0009g0096 a0007c0012t0002g0052 a0007c0012t0002g0105 a0009c0013t0027g0048 a0014c0019t0006g0112 a0015c0021t0002g0106	164	436	0.3762	0	c.-11 others(3): Show c.-11T>G		FUT6	ENSG00000156413.15	transcript	ENST00000318336.10	protein_coding	3/3					chr19	TogoVar
FUT8_chr14_65407730_65749121	65744120	A A	C C	splice_region_variant splice_region_variant	LOW	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0151 a0001c0001t0017g0151	1	374	0.0027	0	c.17 others(5): Show c.1710A>C		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	11/11					chr14	TogoVar
FUZ_chr19_49801866_49818292	49811703	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03942.hp1 HG03942.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0058 a0003c0004t0001g0058	1	410	0.0024	0	c.319 others(5): Show c.319-4C>G		FUZ	ENSG00000010361.14	transcript	ENST00000313777.9	protein_coding	3/10					chr19	TogoVar
FXR2_chr17_7586230_7619897	7614444	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0058 a0002c0007t0002g0058	1	426	0.0024	0	c.81+ others(4): Show c.81+8G>T		FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16					chr17	TogoVar
FXR2_chr17_7586230_7619897	7614449	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0058 a0002c0007t0002g0058	1	426	0.0024	0	c.81+ others(4): Show c.81+3G>T		FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16					chr17	TogoVar
FXR2_chr17_7586230_7619897	7614452	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0058 a0002c0007t0002g0058	1	426	0.0024	0	c.81G others(2): Show c.81G>T	p.Lys others(5): Show p.Lys27Asn	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/17	446/2987	81/2022	27/673		chr17	TogoVar
FXR2_chr17_7586230_7619897	7614453	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0058 a0002c0007t0002g0058	1	426	0.0024	0	c.80A others(2): Show c.80A>T	p.Lys others(5): Show p.Lys27Met	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/17	445/2987	80/2022	27/673		chr17	TogoVar
FXR2_chr17_7586230_7619897	7614454	T T	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0058 a0002c0007t0002g0058	1	426	0.0024	0	c.79A others(2): Show c.79A>T	p.Lys others(3): Show p.Lys27*	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/17	444/2987	79/2022	27/673		chr17	TogoVar
FXYD2_chr11_117815057_117829744	117820660	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	482	0.0021	0	c.6+ others(4): Show c.6+6C>A		FXYD2	ENSG00000137731.14	transcript	ENST00000292079.7	protein_coding	5/5					chr11	TogoVar
FXYD3_chr19_35110823_35129324	35116358	AGGTGAGC others(6): Show AGGTGAGCAGCTGG	A A	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0049 a0001c0001t0010g0049	1	414	0.0024	-13	c.-15 others(25): Show c.-15+2_-15+14delTGAGCAGCTGGGG		FXYD3	ENSG00000089356.19	transcript	ENST00000604404.6	protein_coding	2/8				INFO_REALIGN_3_PRIME	chr19	TogoVar
FXYD5_chr19_35149735_35174881	35164248	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(367): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 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 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0006 a0002c0002 others(7): Show a0001c0001 a0001c0006 a0002c0002 a0002c0003 a0003c0004 a0004c0005 a0004c0008 a0005c0007 a0006c0010 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0006t0001 a0001c0006t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0003c0004t0001 a0004c0005t0001 a0004c0008t0001 a0005c0007t0001 a0006c0010t0001 a0007c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(244): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0002g0041 a0001c0001t0002g0065 a0001c0001t0002g0089 a0001c0001t0002g0102 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0142 a0001c0001t0002g0153 a0001c0001t0002g0202 a0001c0001t0002g0215 a0001c0001t0002g0218 a0001c0001t0002g0235 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0279 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0040 a0001c0001t0003g0045 a0001c0001t0003g0066 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0090 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0146 a0001c0001t0003g0163 a0001c0001t0003g0232 a0001c0001t0003g0236 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0287 a0001c0001t0005g0061 a0001c0001t0006g0103 a0001c0001t0008g0171 a0001c0006t0001g0111 a0001c0006t0002g0100 a0002c0002t0001g0053 a0002c0002t0001g0075 a0002c0002t0001g0082 a0002c0002t0001g0087 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0098 a0002c0002t0001g0237 a0002c0002t0001g0243 a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0010 a0002c0002t0002g0026 a0002c0002t0002g0033 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0047 a0002c0002t0002g0056 a0002c0002t0002g0060 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0088 a0002c0002t0002g0104 a0002c0002t0002g0143 a0002c0002t0002g0158 a0002c0002t0002g0162 a0002c0002t0002g0167 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0185 a0002c0002t0002g0189 a0002c0002t0002g0197 a0002c0002t0002g0200 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0214 a0002c0002t0002g0216 a0002c0002t0002g0224 a0002c0002t0002g0244 a0002c0002t0002g0246 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0273 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0288 a0002c0002t0002g0291 a0002c0002t0003g0050 a0002c0002t0003g0141 a0002c0002t0003g0170 a0002c0002t0003g0256 a0002c0002t0003g0257 a0002c0002t0004g0204 a0002c0002t0007g0157 a0002c0003t0001g0013 a0002c0003t0001g0014 a0002c0003t0001g0021 a0002c0003t0001g0027 a0002c0003t0001g0039 a0002c0003t0001g0052 a0002c0003t0001g0054 a0002c0003t0001g0058 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0073 a0002c0003t0001g0080 a0002c0003t0001g0085 a0002c0003t0001g0097 a0002c0003t0001g0099 a0002c0003t0001g0101 a0002c0003t0001g0105 a0002c0003t0001g0115 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0159 a0002c0003t0001g0161 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0166 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0192 a0002c0003t0001g0199 a0002c0003t0001g0205 a0002c0003t0001g0219 a0002c0003t0001g0220 a0002c0003t0001g0227 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0249 a0002c0003t0001g0252 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0265 a0002c0003t0001g0274 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0002g0160 a0002c0003t0003g0034 a0002c0003t0003g0114 a0002c0003t0003g0116 a0002c0003t0003g0117 a0002c0003t0003g0230 a0002c0003t0003g0245 a0003c0004t0001g0135 a0003c0004t0001g0209 a0003c0004t0001g0210 a0004c0005t0001g0242 a0004c0008t0001g0268 a0005c0007t0001g0191 a0005c0007t0001g0193 a0006c0010t0001g0203 a0007c0009t0001g0217	370	462	0.8009	0	c.382 others(5): Show c.382+3T>C		FXYD5	ENSG00000089327.15	transcript	ENST00000392219.7	protein_coding	6/8					chr19	TogoVar
FXYD6_chr11_117831981_117881658	117841983	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0085 a0001c0001t0004g0085	1	430	0.0023	0	c.97+ others(4): Show c.97+7G>A		FXYD6	ENSG00000137726.17	transcript	ENST00000526014.6	protein_coding	3/7					chr11	TogoVar
FYB1_chr5_39100252_39224563	39127742	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00438.hp2 NA18961.hp2 HG00438.hp2 NA18961.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0207 a0010c0010t0001g0320 a0010c0010t0001g0207 a0010c0010t0001g0320	2	326	0.0061	0	c.190 others(4): Show c.1906G>T	p.Gly others(6): Show p.Gly636Cys	FYB1	ENSG00000082074.19	transcript	ENST00000512982.4	protein_coding	11/19	2054/4829	1906/2490	636/829		chr5	TogoVar
FYB1_chr5_39100252_39224563	39137594	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0036 a0002c0002t0006g0036	1	326	0.0031	0	c.151 others(6): Show c.1515+6G>A		FYB1	ENSG00000082074.19	transcript	ENST00000512982.4	protein_coding	7/18					chr5	TogoVar
FYB1_chr5_39100252_39224563	39201818	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0323 a0001c0001t0010g0323	1	326	0.0031	0	c.113 others(6): Show c.1135+8C>A		FYB1	ENSG00000082074.19	transcript	ENST00000512982.4	protein_coding	2/18					chr5	TogoVar
FYB2_chr1_56713789_56824404	56720327	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02559.hp1 HG02572.hp2 NA20129.hp2 HG02559.hp1 HG02572.hp2 NA20129.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0083 a0001c0009t0003g0303 a0001c0009t0003g0344 a0001c0009t0003g0083 a0001c0009t0003g0303 a0001c0009t0003g0344	3	380	0.0079	0	c.197 others(4): Show c.1977C>T	p.Tyr others(6): Show p.Tyr659Tyr	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	18/20	2091/3183	1977/2187	659/728		chr1	TogoVar
FYB2_chr1_56713789_56824404	56744022	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(47): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG01069.hp2 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01346.hp1 HG01358.hp1 HG01515.hp1 HG01934.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02132.hp1 HG02132.hp2 HG02273.hp1 HG02273.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03710.hp2 HG03942.hp1 NA18747.hp2 NA18939.hp2 NA18950.hp2 NA18957.hp2 NA18960.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18979.hp1 NA18997.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19058.hp1 NA19067.hp2 NA19070.hp1 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp2	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0007c0011 a0010c0022	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0009t0003 a0007c0011t0001 a0010c0022t0001	a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0021 others(47): Show a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0241 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0287 a0001c0001t0001g0346 a0001c0001t0002g0022 a0001c0001t0002g0055 a0001c0001t0002g0069 a0001c0001t0002g0135 a0001c0001t0002g0141 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0221 a0001c0002t0001g0090 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0307 a0001c0009t0003g0344 a0007c0011t0001g0239 a0007c0011t0001g0240 a0010c0022t0001g0316	50	380	0.1316	0	c.154 others(6): Show c.1543+4A>G		FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	11/19					chr1	TogoVar
FYB2_chr1_56713789_56824404	56744266	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02145.hp2 HG02145.hp2	a0013 a0013	a0013c0024 a0013c0024	a0013c0024t0001 a0013c0024t0001	a0013c0024t0001g0325 a0013c0024t0001g0325	1	380	0.0026	0	c.138 others(4): Show c.1388G>A	p.Cys others(6): Show p.Cys463Tyr	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	10/20	1502/3183	1388/2187	463/728		chr1	TogoVar
FYB2_chr1_56713789_56824404	56819284	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03710.hp1 HG03710.hp1	a0017 a0017	a0017c0013 a0017c0013	a0017c0013t0001 a0017c0013t0001	a0017c0013t0001g0010 a0017c0013t0001g0010	1	380	0.0026	0	c.7G> others(1): Show c.7G>A	p.Gly others(4): Show p.Gly3Arg	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	1/20	121/3183	7/2187	3/728		chr1	TogoVar
FYN_chr6_111655332_111878452	111694367	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp2 HG01256.hp2 HG01258.hp2 HG01106.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0124 a0001c0001t0004g0125 a0001c0001t0004g0138 a0001c0001t0001g0124 a0001c0001t0004g0125 a0001c0001t0004g0138	3	234	0.0128	0	c.127 others(6): Show c.1273+8C>T		FYN	ENSG00000010810.18	transcript	ENST00000354650.7	protein_coding	12/13					chr6	TogoVar
FYN_chr6_111655332_111878452	111694620	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp2 HG02895.hp1 NA19030.hp2 others(3): Show HG02622.hp2 HG02895.hp1 NA19030.hp2 NA19043.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014	a0001c0001t0001g0099 a0001c0001t0002g0092 a0001c0001t0007g0060 others(3): Show a0001c0001t0001g0099 a0001c0001t0002g0092 a0001c0001t0007g0060 a0001c0001t0010g0152 a0001c0001t0014g0036 a0001c0001t0014g0047	6	234	0.0256	0	c.111 others(6): Show c.1119+8C>A		FYN	ENSG00000010810.18	transcript	ENST00000354650.7	protein_coding	11/13					chr6	TogoVar
FZD6_chr8_103293898_103337866	103318794	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0215 a0002c0009t0001g0215	1	366	0.0027	0	c.374 others(5): Show c.374+8A>G		FZD6	ENSG00000164930.12	transcript	ENST00000358755.5	protein_coding	3/6					chr8	TogoVar
FZR1_chr19_3501311_3543334	3506480	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	314	0.0032	0	c.-35 others(5): Show c.-35+6G>A		FZR1	ENSG00000105325.15	transcript	ENST00000441788.7	protein_coding	1/13					chr19	TogoVar
G2E3_chr14_30554158_30625064	30593642	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0159 a0001c0001t0009g0159	1	356	0.0028	0	c.528 others(5): Show c.528+3A>G		G2E3	ENSG00000092140.16	transcript	ENST00000206595.11	protein_coding	6/14					chr14	TogoVar
G3BP1_chr5_151766954_151817785	151772034	T T	C C	splice_region_variant splice_region_variant	LOW	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0090 a0001c0001t0035g0090	1	342	0.0029	0	c.-52 others(3): Show c.-52T>C		G3BP1	ENSG00000145907.16	transcript	ENST00000356245.8	protein_coding	1/12					chr5	TogoVar
G3BP1_chr5_151766954_151817785	151790320	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp1 HG01255.hp1 HG01496.hp1 others(9): Show HG01106.hp1 HG01255.hp1 HG01496.hp1 HG01952.hp1 HG02132.hp2 NA18956.hp2 NA18973.hp2 NA19004.hp2 NA19012.hp1 NA19084.hp2 NA19088.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0048 a0001c0001t0001 a0001c0001t0048	a0001c0001t0001g0010 a0001c0001t0001g0075 a0001c0001t0001g0076 others(7): Show a0001c0001t0001g0010 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0048g0074	12	342	0.0351	0	c.96- others(4): Show c.96-3C>T		G3BP1	ENSG00000145907.16	transcript	ENST00000356245.8	protein_coding	2/11					chr5	TogoVar
G3BP1_chr5_151766954_151817785	151795578	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00438.hp2 HG00735.hp2 others(56): Show HG00099.hp2 HG00438.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01109.hp2 HG01168.hp1 HG01243.hp2 HG01358.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG02027.hp1 HG02055.hp1 HG02074.hp2 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03516.hp2 HG03704.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp2 NA18956.hp1 NA18957.hp1 NA18970.hp2 NA18973.hp1 NA18989.hp1 NA18991.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 others(13): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0054 a0001c0001t0055 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064	a0001c0001t0003g0017 a0001c0001t0003g0043 a0001c0001t0003g0044 others(50): Show a0001c0001t0003g0017 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0053 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0204 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0005g0016 a0001c0001t0005g0033 a0001c0001t0005g0055 a0001c0001t0005g0183 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0205 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0211 a0001c0001t0012g0020 a0001c0001t0012g0060 a0001c0001t0012g0061 a0001c0001t0012g0062 a0001c0001t0018g0009 a0001c0001t0019g0019 a0001c0001t0019g0056 a0001c0001t0030g0063 a0001c0001t0030g0064 a0001c0001t0031g0057 a0001c0001t0031g0058 a0001c0001t0032g0187 a0001c0001t0032g0198 a0001c0001t0033g0196 a0001c0001t0054g0020 a0001c0001t0055g0059 a0001c0001t0060g0206 a0001c0001t0061g0192 a0001c0001t0062g0272 a0001c0001t0063g0197 a0001c0001t0064g0186	59	342	0.1725	0	c.539 others(5): Show c.539+3A>T		G3BP1	ENSG00000145907.16	transcript	ENST00000356245.8	protein_coding	6/11					chr5	TogoVar
G3BP2_chr4_75637786_75678411	75662055	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0099 a0001c0001t0041g0099	1	330	0.0030	0	c.-24 others(5): Show c.-24-6C>A		G3BP2	ENSG00000138757.15	transcript	ENST00000359707.9	protein_coding	1/11					chr4	TogoVar
G6PC1_chr17_42895799_42919438	42904047	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	366	0.0027	0	c.340 others(5): Show c.340+7G>A		G6PC1	ENSG00000131482.10	transcript	ENST00000253801.7	protein_coding	2/4					chr17	TogoVar
G6PC1_chr17_42895799_42919438	42907523	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0015 a0002c0003t0001g0015	1	366	0.0027	0	c.341 others(3): Show c.341G>A	p.Gly others(6): Show p.Gly114Glu	G6PC1	ENSG00000131482.10	transcript	ENST00000253801.7	protein_coding	3/5	419/4164	341/1074	114/357		chr17	TogoVar
G6PC2_chr2_168896291_168915000	168906660	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0008	a0004c0004t0008g0045 a0004c0004t0008g0045	1	425	0.0024	0	c.441 others(5): Show c.441-4G>A		G6PC2	ENSG00000152254.11	transcript	ENST00000375363.8	protein_coding	3/4					chr2	TogoVar
G6PC3_chr17_44065735_44081344	44074775	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp1 HG02723.hp2 HG02970.hp2 others(2): Show HG02145.hp1 HG02723.hp2 HG02970.hp2 HG03098.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0018 a0002c0003t0001g0024 a0002c0003t0001g0018 a0002c0003t0001g0024	5	384	0.0130	0	c.416 others(5): Show c.416+5A>G		G6PC3	ENSG00000141349.10	transcript	ENST00000269097.9	protein_coding	3/5					chr17	TogoVar
G6PD_chrX_154526391_154551846	154534165	AG AG	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0088 a0007c0010t0006g0088	1	285	0.0035	-1	c.645 others(6): Show c.645-6delC		G6PD	ENSG00000160211.20	transcript	ENST00000393562.10	protein_coding	6/12					chrX	TogoVar
G6PD_chrX_154526391_154551846	154536043	C C	CCA CCA	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0088 a0007c0010t0006g0088	1	285	0.0035	2	c.160 others(9): Show c.160_161insTG	p.Trp others(4): Show p.Trp54fs	G6PD	ENSG00000160211.20	transcript	ENST00000393562.10	protein_coding	4/13	226/2223	160/1548	54/515		chrX	TogoVar
G6PD_chrX_154526391_154551846	154536044	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0088 a0007c0010t0006g0088	1	285	0.0035	0	c.160 others(3): Show c.160T>G	p.Trp others(5): Show p.Trp54Gly	G6PD	ENSG00000160211.20	transcript	ENST00000393562.10	protein_coding	4/13	226/2223	160/1548	54/515		chrX	TogoVar
GAA_chr17_80096581_80124881	80105132	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0042 a0002c0042	a0002c0042t0001 a0002c0042t0001	a0002c0042t0001g0105 a0002c0042t0001g0105	1	416	0.0024	0	c.546 others(3): Show c.546G>A	p.Thr others(6): Show p.Thr182Thr	GAA	ENSG00000171298.14	transcript	ENST00000302262.8	protein_coding	2/20	888/3751	546/2859	182/952		chr17	TogoVar
GAA_chr17_80096581_80124881	80105745	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(244): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(14): Show a0001 a0004 a0005 a0008 a0009 a0011 a0012 a0013 a0014 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028	a0001c0002 a0001c0004 a0001c0007 others(28): Show a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0019 a0001c0036 a0001c0039 a0001c0040 a0004c0005 a0004c0031 a0005c0006 a0005c0017 a0005c0032 a0008c0014 a0009c0018 a0011c0049 a0012c0022 a0013c0041 a0014c0025 a0021c0029 a0022c0038 a0023c0034 a0024c0035 a0025c0030 a0026c0033 a0027c0037 a0028c0024	a0001c0002t0006 a0001c0002t0007 a0001c0004t0003 others(37): Show a0001c0002t0006 a0001c0002t0007 a0001c0004t0003 a0001c0004t0018 a0001c0007t0005 a0001c0008t0003 a0001c0010t0003 a0001c0010t0005 a0001c0010t0008 a0001c0010t0010 a0001c0011t0001 a0001c0011t0002 a0001c0011t0015 a0001c0012t0002 a0001c0012t0008 a0001c0013t0005 a0001c0019t0005 a0001c0036t0010 a0001c0039t0007 a0001c0040t0007 a0004c0005t0002 a0004c0031t0002 a0005c0006t0002 a0005c0006t0014 a0005c0017t0002 a0005c0032t0002 a0008c0014t0008 a0009c0018t0003 a0011c0049t0003 a0012c0022t0010 a0013c0041t0002 a0014c0025t0002 a0021c0029t0006 a0022c0038t0012 a0023c0034t0007 a0024c0035t0002 a0025c0030t0002 a0026c0033t0002 a0027c0037t0001 a0028c0024t0006	a0001c0002t0006g0002 a0001c0002t0006g0018 a0001c0002t0006g0025 others(117): Show a0001c0002t0006g0002 a0001c0002t0006g0018 a0001c0002t0006g0025 a0001c0002t0006g0051 a0001c0002t0006g0052 a0001c0002t0006g0055 a0001c0002t0006g0056 a0001c0002t0006g0057 a0001c0002t0006g0058 a0001c0002t0006g0059 a0001c0002t0006g0060 a0001c0002t0006g0063 a0001c0002t0007g0002 a0001c0002t0007g0025 a0001c0002t0007g0053 a0001c0002t0007g0054 a0001c0002t0007g0062 a0001c0004t0003g0005 a0001c0004t0003g0020 a0001c0004t0003g0021 a0001c0004t0003g0039 a0001c0004t0003g0040 a0001c0004t0003g0041 a0001c0004t0003g0103 a0001c0004t0003g0110 a0001c0004t0003g0112 a0001c0004t0003g0113 a0001c0004t0003g0114 a0001c0004t0003g0115 a0001c0004t0003g0116 a0001c0004t0003g0118 a0001c0004t0003g0119 a0001c0004t0003g0121 a0001c0004t0003g0122 a0001c0004t0018g0106 a0001c0007t0005g0007 a0001c0007t0005g0030 a0001c0007t0005g0031 a0001c0007t0005g0032 a0001c0007t0005g0033 a0001c0007t0005g0044 a0001c0007t0005g0045 a0001c0007t0005g0046 a0001c0007t0005g0141 a0001c0007t0005g0143 a0001c0007t0005g0144 a0001c0008t0003g0004 a0001c0008t0003g0027 a0001c0008t0003g0028 a0001c0008t0003g0098 a0001c0008t0003g0107 a0001c0008t0003g0108 a0001c0008t0003g0109 a0001c0008t0003g0120 a0001c0010t0003g0031 a0001c0010t0003g0142 a0001c0010t0005g0101 a0001c0010t0008g0008 a0001c0010t0008g0086 a0001c0010t0010g0123 a0001c0010t0010g0124 a0001c0011t0001g0011 a0001c0011t0002g0011 a0001c0011t0002g0139 a0001c0011t0002g0167 a0001c0011t0015g0011 a0001c0012t0002g0008 a0001c0012t0008g0008 a0001c0012t0008g0085 a0001c0012t0008g0087 a0001c0012t0008g0088 a0001c0013t0005g0023 a0001c0019t0005g0007 a0001c0019t0005g0044 a0001c0036t0010g0100 a0001c0039t0007g0002 a0001c0040t0007g0111 a0004c0005t0002g0003 a0004c0005t0002g0006 a0004c0005t0002g0012 a0004c0005t0002g0022 a0004c0005t0002g0061 a0004c0005t0002g0099 a0004c0005t0002g0125 a0004c0005t0002g0126 a0004c0005t0002g0127 a0004c0005t0002g0133 a0004c0005t0002g0134 a0004c0005t0002g0135 a0004c0005t0002g0140 a0004c0031t0002g0003 a0005c0006t0002g0003 a0005c0006t0002g0010 a0005c0006t0002g0029 a0005c0006t0002g0042 a0005c0006t0002g0043 a0005c0006t0002g0128 a0005c0006t0002g0130 a0005c0006t0002g0131 a0005c0006t0002g0132 a0005c0006t0002g0137 a0005c0006t0002g0138 a0005c0006t0014g0042 a0005c0017t0002g0010 a0005c0017t0002g0136 a0005c0032t0002g0003 a0008c0014t0008g0008 a0009c0018t0003g0005 a0011c0049t0003g0104 a0012c0022t0010g0064 a0013c0041t0002g0003 a0014c0025t0002g0129 a0021c0029t0006g0002 a0022c0038t0012g0102 a0023c0034t0007g0002 a0024c0035t0002g0029 a0025c0030t0002g0003 a0026c0033t0002g0006 a0027c0037t0001g0117 a0028c0024t0006g0050	247	416	0.5938	0	c.547 others(5): Show c.547-4C>G		GAA	ENSG00000171298.14	transcript	ENST00000302262.8	protein_coding	2/19					chr17	TogoVar
GAA_chr17_80096581_80124881	80107727	A A	AGCAGCGG AGCAGCGG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(240): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19082.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(13): Show a0001 a0004 a0005 a0008 a0009 a0011 a0012 a0013 a0014 a0021 a0023 a0024 a0025 a0026 a0027 a0028	a0001c0002 a0001c0004 a0001c0007 others(27): Show a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0019 a0001c0036 a0001c0039 a0001c0040 a0004c0005 a0004c0031 a0005c0006 a0005c0017 a0005c0032 a0008c0014 a0009c0018 a0011c0049 a0012c0022 a0013c0041 a0014c0025 a0021c0029 a0023c0034 a0024c0035 a0025c0030 a0026c0033 a0027c0037 a0028c0024	a0001c0002t0006 a0001c0002t0007 a0001c0004t0003 others(36): Show a0001c0002t0006 a0001c0002t0007 a0001c0004t0003 a0001c0004t0018 a0001c0007t0005 a0001c0008t0003 a0001c0010t0003 a0001c0010t0005 a0001c0010t0008 a0001c0010t0010 a0001c0011t0001 a0001c0011t0002 a0001c0011t0015 a0001c0012t0002 a0001c0012t0008 a0001c0013t0005 a0001c0019t0005 a0001c0036t0010 a0001c0039t0007 a0001c0040t0007 a0004c0005t0002 a0004c0031t0002 a0005c0006t0002 a0005c0006t0014 a0005c0017t0002 a0005c0032t0002 a0008c0014t0008 a0009c0018t0003 a0011c0049t0003 a0012c0022t0010 a0013c0041t0002 a0014c0025t0002 a0021c0029t0006 a0023c0034t0007 a0024c0035t0002 a0025c0030t0002 a0026c0033t0002 a0027c0037t0001 a0028c0024t0006	a0001c0002t0006g0002 a0001c0002t0006g0018 a0001c0002t0006g0025 others(113): Show a0001c0002t0006g0002 a0001c0002t0006g0018 a0001c0002t0006g0025 a0001c0002t0006g0051 a0001c0002t0006g0052 a0001c0002t0006g0055 a0001c0002t0006g0056 a0001c0002t0006g0057 a0001c0002t0006g0058 a0001c0002t0006g0060 a0001c0002t0006g0063 a0001c0002t0007g0002 a0001c0002t0007g0025 a0001c0002t0007g0053 a0001c0002t0007g0054 a0001c0002t0007g0062 a0001c0004t0003g0005 a0001c0004t0003g0020 a0001c0004t0003g0021 a0001c0004t0003g0039 a0001c0004t0003g0040 a0001c0004t0003g0041 a0001c0004t0003g0103 a0001c0004t0003g0110 a0001c0004t0003g0112 a0001c0004t0003g0113 a0001c0004t0003g0114 a0001c0004t0003g0115 a0001c0004t0003g0116 a0001c0004t0003g0118 a0001c0004t0003g0119 a0001c0004t0003g0121 a0001c0004t0003g0122 a0001c0004t0018g0106 a0001c0007t0005g0007 a0001c0007t0005g0030 a0001c0007t0005g0031 a0001c0007t0005g0032 a0001c0007t0005g0033 a0001c0007t0005g0044 a0001c0007t0005g0045 a0001c0007t0005g0046 a0001c0007t0005g0141 a0001c0007t0005g0143 a0001c0007t0005g0144 a0001c0008t0003g0004 a0001c0008t0003g0027 a0001c0008t0003g0028 a0001c0008t0003g0098 a0001c0008t0003g0107 a0001c0008t0003g0108 a0001c0008t0003g0109 a0001c0008t0003g0120 a0001c0010t0003g0031 a0001c0010t0003g0142 a0001c0010t0005g0101 a0001c0010t0008g0008 a0001c0010t0008g0086 a0001c0010t0010g0123 a0001c0010t0010g0124 a0001c0011t0001g0011 a0001c0011t0002g0011 a0001c0011t0002g0139 a0001c0011t0002g0167 a0001c0011t0015g0011 a0001c0012t0002g0008 a0001c0012t0008g0008 a0001c0012t0008g0085 a0001c0012t0008g0087 a0001c0012t0008g0088 a0001c0013t0005g0023 a0001c0019t0005g0007 a0001c0019t0005g0044 a0001c0036t0010g0100 a0001c0039t0007g0002 a0001c0040t0007g0111 a0004c0005t0002g0003 a0004c0005t0002g0006 a0004c0005t0002g0012 a0004c0005t0002g0022 a0004c0005t0002g0061 a0004c0005t0002g0099 a0004c0005t0002g0125 a0004c0005t0002g0126 a0004c0005t0002g0133 a0004c0005t0002g0134 a0004c0005t0002g0140 a0004c0031t0002g0003 a0005c0006t0002g0003 a0005c0006t0002g0010 a0005c0006t0002g0029 a0005c0006t0002g0042 a0005c0006t0002g0043 a0005c0006t0002g0128 a0005c0006t0002g0130 a0005c0006t0002g0131 a0005c0006t0002g0132 a0005c0006t0002g0137 a0005c0006t0002g0138 a0005c0006t0014g0042 a0005c0017t0002g0010 a0005c0017t0002g0136 a0005c0032t0002g0003 a0008c0014t0008g0008 a0009c0018t0003g0005 a0011c0049t0003g0104 a0012c0022t0010g0064 a0013c0041t0002g0003 a0014c0025t0002g0129 a0021c0029t0006g0002 a0023c0034t0007g0002 a0024c0035t0002g0029 a0025c0030t0002g0003 a0026c0033t0002g0006 a0027c0037t0001g0117 a0028c0024t0006g0050	243	416	0.5841	7	c.858 others(18): Show c.858+7_858+8insAGCGGGC		GAA	ENSG00000171298.14	transcript	ENST00000302262.8	protein_coding	4/19				INFO_REALIGN_3_PRIME	chr17	TogoVar
GAA_chr17_80096581_80124881	80107730	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19082.hp2 NA19082.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0135 a0004c0005t0002g0135	1	416	0.0024	0	c.858 others(5): Show c.858+8G>A		GAA	ENSG00000171298.14	transcript	ENST00000302262.8	protein_coding	4/19					chr17	TogoVar
GAA_chr17_80096581_80124881	80112716	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp1 HG00738.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0132 a0005c0006t0002g0132	1	416	0.0024	0	c.188 others(6): Show c.1888+5G>T		GAA	ENSG00000171298.14	transcript	ENST00000302262.8	protein_coding	13/19					chr17	TogoVar
GAA_chr17_80096581_80124881	80118645	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0143 a0001c0007t0005g0143	1	416	0.0024	0	c.264 others(6): Show c.2647-8C>T		GAA	ENSG00000171298.14	transcript	ENST00000302262.8	protein_coding	18/19					chr17	TogoVar
GAB4_chr22_16956936_17013222	16965267	G G	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00140.hp1 HG00741.hp1 HG01070.hp1 others(11): Show HG00140.hp1 HG00741.hp1 HG01070.hp1 HG01123.hp2 HG01167.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG02683.hp1 HG02698.hp2 HG03492.hp1 HG03834.hp1 HG04115.hp2 HG04228.hp1	a0001 a0003 a0001 a0003	a0001c0012 a0003c0004 a0003c0020 a0001c0012 a0003c0004 a0003c0020	a0001c0012t0003 a0003c0004t0003 a0003c0020t0003 a0001c0012t0003 a0003c0004t0003 a0003c0020t0003	a0001c0012t0003g0222 a0001c0012t0003g0223 a0003c0004t0003g0025 others(7): Show a0001c0012t0003g0222 a0001c0012t0003g0223 a0003c0004t0003g0025 a0003c0004t0003g0026 a0003c0004t0003g0087 a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0093 a0003c0020t0003g0092	14	430	0.0326	0	c.129 others(4): Show c.1290C>A	p.Ala others(6): Show p.Ala430Ala	GAB4	ENSG00000215568.9	transcript	ENST00000400588.5	protein_coding	7/10	1398/2630	1290/1725	430/574		chr22	TogoVar
GAB4_chr22_16956936_17013222	16966101	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(361): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 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 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0005 a0001c0007 others(16): Show a0001c0001 a0001c0005 a0001c0007 a0001c0010 a0001c0018 a0001c0023 a0001c0024 a0002c0002 a0002c0008 a0002c0013 a0002c0017 a0002c0021 a0002c0022 a0003c0004 a0003c0020 a0004c0006 a0005c0011 a0006c0015 a0007c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0005t0005 a0001c0007t0004 a0001c0010t0004 a0001c0018t0002 a0001c0023t0003 a0001c0024t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0008t0001 a0002c0013t0005 a0002c0017t0001 a0002c0021t0001 a0002c0022t0001 a0003c0004t0003 a0003c0020t0003 a0004c0006t0006 a0005c0011t0001 a0006c0015t0006 a0007c0019t0002	a0001c0001t0001g0029 a0001c0001t0001g0072 a0001c0001t0001g0098 others(195): Show a0001c0001t0001g0029 a0001c0001t0001g0072 a0001c0001t0001g0098 a0001c0001t0001g0115 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0153 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0003g0027 a0001c0001t0003g0036 a0001c0001t0003g0048 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0121 a0001c0001t0003g0152 a0001c0001t0004g0004 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0032 a0001c0001t0004g0042 a0001c0001t0004g0059 a0001c0001t0004g0069 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0010g0110 a0001c0001t0010g0154 a0001c0001t0011g0113 a0001c0001t0012g0096 a0001c0005t0005g0022 a0001c0005t0005g0046 a0001c0005t0005g0047 a0001c0005t0005g0079 a0001c0005t0005g0091 a0001c0005t0005g0097 a0001c0007t0004g0023 a0001c0010t0004g0206 a0001c0010t0004g0207 a0001c0010t0004g0208 a0001c0018t0002g0136 a0001c0023t0003g0138 a0001c0024t0005g0235 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0157 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0177 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0209 a0002c0002t0002g0170 a0002c0002t0002g0175 a0002c0002t0004g0155 a0002c0002t0004g0156 a0002c0002t0004g0158 a0002c0002t0004g0183 a0002c0002t0004g0201 a0002c0002t0007g0040 a0002c0002t0007g0065 a0002c0002t0007g0167 a0002c0008t0001g0045 a0002c0008t0001g0084 a0002c0008t0001g0085 a0002c0013t0005g0067 a0002c0017t0001g0076 a0002c0021t0001g0176 a0002c0022t0001g0178 a0003c0004t0003g0025 a0003c0004t0003g0026 a0003c0004t0003g0087 a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0093 a0003c0020t0003g0092 a0004c0006t0006g0018 a0004c0006t0006g0056 a0004c0006t0006g0057 a0004c0006t0006g0142 a0004c0006t0006g0144 a0005c0011t0001g0077 a0005c0011t0001g0078 a0006c0015t0006g0236 a0006c0015t0006g0237 a0007c0019t0002g0124	364	430	0.8465	0	c.128 others(4): Show c.1287G>A	p.Lys others(6): Show p.Lys429Lys	GAB4	ENSG00000215568.9	transcript	ENST00000400588.5	protein_coding	6/10	1395/2630	1287/1725	429/574		chr22	TogoVar
GAB4_chr22_16956936_17013222	16992181	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03041.hp1 HG03486.hp1 HG03041.hp1 HG03486.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0006 a0006c0015t0006	a0006c0015t0006g0236 a0006c0015t0006g0237 a0006c0015t0006g0236 a0006c0015t0006g0237	2	430	0.0047	0	c.175 others(5): Show c.175-5C>G		GAB4	ENSG00000215568.9	transcript	ENST00000400588.5	protein_coding	1/9					chr22	TogoVar

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