Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FAM90A16_chr8_7725739_7738749	7726106	GCAGGTGG others(1829): Show GCAGGTGGCAGGGGCTCCTTGGCCTCCAGCTCCCGTGACTTGGAGGGGAC TGTGGGACTGAGGAGCGCAGAGCAGAGAGCACACTCTGTGCGGTGACTCC GAAGCTCCCCGGCTGTGGCGCTTCTGTGGATGTGGGAGCCCAGGCCAGGC AGGGAGCAGATGCAGGGACTCTGCCTCATTGAATTCTGGTGAGGGACGTT GTAGTTGGCGTGGTTCTCCGGAAACGCGCCAGGAAAAGCTTCCGTGCCAG AGATTCGTTGCCTCAGAAACTGCGTGACGCGCAGGAGTCAGACTTCCGCT GGGACGTCAATAGGAAACTGGGGAATTACTGTGTATTTGCTCTCTAGATG ACTGAATAAGGGAAAAGTTAGGGAACCCTGAGAGGTGCAGCCCTTCCGCT GTGCCCCGCCCTGAGAGCAGTGTTTCGGACGCTGGGAAGCGTGCTGTGCG AAGCGCTCTCGGGGTCTTTCCTCAGCCTCGAAAACTGGGCTCTGGAATGC CTTTGTACATATGTGTGTTTAATGGGTTTTGAAGTGAATAAAATTCTCAA AAAGATGACATATTGTCTTTTGACTCTCATTCCGTGTTTGTGTGTAACTG ATTTTCCAAGTGAAGGGGTGGCCTGCCCCTCCACACCTGTGGGTGTTTCT AGTCGGGTGGGATGAGAGACGGAGAAAAGAAATAAGACACAGAGACAAAG TATAGGGAGACAACAGTGGGTCCAGGGGACCGGCACTCAGCACACCTAGG ACCTGCACCGGCACCGGCCTCTGAGTTCCCTCAGTTTTTATTGATTATGA TTTTCATTATTTCAGCACAAAGGAATGCAGTAGGGGAGCAGGGTGATAAT AAGGGGAAGGTCAAAACAACAACAAAAAACAAACACGTGAGCAAAAGAAT CCATATCATTATTAAGTTCAAGGGAAGGTACTATGCCTGGACGTGCACGT AGGCCAGATTTATGTTTCTCTCCACACAAATATCTCAGCGGAGTAAAGAA TAACAAGGCAGCATTACTGCCAGCATGTCTCGCCTCCCGCCACAGGGCAG CTTTTCGCCGAGCTCAGAGTTGAACAAATGTACGATCGGGCTTTACACCG AGACATTCAGTTCCCAGGGGCAAGCAGGAGACAGTGGCCTTCCTCCATCT GAACTGCAAGAGGCGTTCCTCTTTGACTAATCCACCTCAGCACAGACCCA TTGCGGGTGTCAGGCTGGGGGACAGTCCGGTCTTTTCCATCCCACGAGGC CATATTTCAGACTGTCACATGGGGAGAAACCTTGGACAATACCCTGCTTT CAAGGGCAGAGGTCCCTGTGGCTTTCCACGGTGCATTGCACCCCTGGTTT ATTGAGACTAGGGAATGGCAATGACTCCTACCAAGGATACTGCTCGTAAA CATTTGGTAAACAAGGCGCGTCCTGCACAGCCCTAGATCCCTTAAACCTC GATTTTATACAACACAGGTTTTTGTGAGCTCCAAGTTGGGTCAAAGGAAG GGGCTGCGGGAAAGCTACAAATGATCAACATCTCAGCAAAGCAATTGTTT AAACTACAGGTCTTTTTCAAAATGGAGTCTCTTATGTCTTCCCCTTCTAC ATAGACACAGTGACAGTCTGATCTCTCTTTCTTTACCCTACATCCAAGGG CTTGAACATTTCTTGACTTGTTGGCAATCCAAATCGTTACGTCTCCGAAA CAGAGTTGACTGAGGGGACCGCAGGGCTGGGCAGGACCTTTGACTTCCTA TACATCCACAGGAGCAAGAAAACCTCAGCCCCACTCTACCAACACGCACC TAGTAAAATTCCGCCAACCGAATCTCACGCACGCTAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0019 a0019	a0019c0024 a0019c0024	a0019c0024t0000 a0019c0024t0000	a0019c0024t0000g0012 a0019c0024t0000g0012	1	70	0.0143	-1836	c.-46 others(11): Show c.-4632_-2797del	FAM90A16	ENSG00000285620.1	transcript	ENST00000648174.1	protein_coding		4632		chr8	TogoVar
FAM90A16_chr8_7725739_7738749	7733754	GCAGGTGG others(1829): Show GCAGGTGGCAGGGGCTCCTTGGCCTCCAGCTCCCGTGACTTGGAGGGGAC TGTGGGACTGAGGAGCGCAGAGCAGAGAGCACACTCTGTGCGGTGACTCC GAAGCTCCCCGGCTGTGGCGCTTCTGTGGATGTGGGAGCCCAGGCCAGGC AGGGAGCAGATGCAGGGACTCTGCCTCATTGAATTCTGGTGAGGGACGTT GTAGTTGGCGTGGTTCTCCGGAAACGCGCCAGGAAAAGCTTCCGTGCCAG AGATTCGTTGCCTCAGAAACTGCGTGACGCGCAGGAGTCAGACTTCCGCT GGGACGTCAATAGGAAACTGGGGAATTACTGTGTATTTGCTCTCTAGATG ACTGAATAAGGGAAAAGTTAGGGAACCCTGAGAGGTGCAGCCCTTCCGCT GTGCCCCGCCCTGAGAGCAGTGTTTCGGACGCTGGGAAGCGTGCTGTGCG AAGCGCTCTCGGGGTCTTTCCTCAGCCTCGAAAACTGGGCTCTGGAATGC CTTTGTACATATGTGTGTTTAATGGGTTTTGAAGTGAATAAAATTCTCAA AAAGATGACATATTGTCTTTTGACTCTCATTCCGTGTTTGTGTGTAACTG ATTTTCCAAGTGAAGGGGTGGCCTGCCCCTCCACACCTGTGGGTGTTTCT AGTCGGGTGGGATGAGAGACGGAGAAAAGAAATAAGACACAGAGACAAAG TATAGGGAGACAACAGTGGGTCCAGGGGACCGGCACTCAGCACACCTAGG ACCTGCACCGGCACCGGCCTCTGAGTTCCCTCAGTTTTTATTGATTATGA TTTTCATTATTTCAGCACAAAGGAATGCAGTAGGGGAGCAGGGTGATAAT AAGGGGAAGGTCAAAACAACAACAAAAAACAAACACGTGAGCAAAAGAAT CCATATCATTATTAAGTTCAAGGGAAGGTACTATGCCTGGACGTGCACGT AGGCCAGATTTATGTTTCTCTCCACACAAATATCTCAGCGGAGTAAAGAA TAACAAGGCAGCATTACTGCCAGCATGTCTCGCCTCCCGCCACAGGGCAG CTTTTCGCCGAGCTCAGAGTTGAACAAATGTACGATCGGGCTTTACACCG AGACATTCAGTTCCCAGGGGCAAGCAGGAGACAGTGGCCTTCCTCCATCT GAACTGCAAGAGGCGTTCCTCTTTGACTAATCCACCTCAGCACAGACCCA TTGCGGGTGTCAGGCTGGGGGACAGTCCGGTCTTTTCCATCCCACGAGGC CATATTTCAGACTGTCACATGGGGAGAAACCTTGGACAATACCCTGCTTT CAAGGGCAGAGGTCCCTGTGGCTTTCCACGGTGCATTGCACCCCTGGTTT ATTGAGACTAGGGAATGGCAATGACTCCTACCAAGGATACTGCTCGTAAA CATTTGGTAAACAAGGCGCGTCCTGCACAGCCCTAGATCCCTTAAACCTC GATTTTATACAACACAGGTTTTTGTGAGCTCCAAGTTGGGTCAAAGGAAG GGGCTGCGGGAAAGCTACAAATGATCAACATCTCAGCAAAGCAATTGTTT AAACTACAGGTCTTTTTCAAAATGGAGTCTCTTATGTCTTCCCCTTCTAC ATAGACACAGTGACAGTCTGATCTCTCTTTCTTTACCCTACATCCAAGGG CTTGAACATTTCTTGACTTGTTGGCAATCCAAATCGTTACGTCTCCGAAA CAGAGTTGACTGAGGGGACCGCAGGGCTGGGCAGGACCTTTGACTTCCTA TACATCCACAGGAGCAAGAAAACCTCAGCCCCACTCTACCAACACGCACC TAGTAAAATTCCGCCAACCGAATCTCACGCACGCTAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0019 a0019	a0019c0024 a0019c0024	a0019c0024t0000 a0019c0024t0000	a0019c0024t0000g0012 a0019c0024t0000g0012	1	70	0.0143	-1836	c.6_ others(8): Show c.6_*1841del	FAM90A16	ENSG00000285620.1	transcript	ENST00000648174.1	protein_coding		6		chr8	TogoVar
FAM90A19_chr8_7748682_7761692	7749049	GCAGGTGG others(1829): Show GCAGGTGGCAGGGGCTCCTTGGCCTCCAGCTCCCGTGACTTGGAGGGGAC TGTGGGACTGAGGAGCGCAGAGCAGAGAGCACACTCTGTGCGGTGACTCC GAAGCTCCCCGGCTGTGGCGCTTCTGTGGATGTGGGAGCCCAGGCCAGGC AGGGAGCAGATGCAGGGACTCTGCCTCATTGAATTCTGGTGAGGGACGTT GTAGTTGGCGTGGTTCTCCGGAAACGCGCCAGGAAAAGCTTCCGTGCCAG AGATTCGTTGCCTCAGAAACTGCGTGACGCGCAGGAGTCAGACTTCCGCT GGGACGTCAATAGGAAACTGGGGAATTACTGTGTATTTGCTCTCTAGATG ACTGAATAAGGGAAAAGTTAGGGAACCCTGAGAGGTGCAGCCCTTCCGCT GTGCCCCGCCCTGAGAGCAGTGTTTCGGACGCTGGGAAGCGTGCTGTGCG AAGCGCTCTCGGGGTCTTTCCTCAGCCTCGAAAACTGGGCTCTGGAATGC CTTTGTACATATGTGTGTTTAATGGGTTTTGAAGTGAATAAAATTCTCAA AAAGATGACATATTGTCTTTTGACTCTCATTCCGTGTTTGTGTGTAACTG ATTTTCCAAGTGAAGGGGTGGCCTGCCCCTCCACACCTGTGGGTGTTTCT AGTCGGGTGGGATGAGAGACGGAGAAAAGAAATAAGACACAGAGACAAAG TATAGGGAGACAACAGTGGGTCCAGGGGACCGGCACTCAGCACACCTAGG ACCTGCACCGGCACCGGCCTCTGAGTTCCCTCAGTTTTTATTGATTATGA TTTTCATTATTTCAGCACAAAGGAATGCAGTAGGGGAGCAGGGTGATAAT AAGGGGAAGGTCAAAACAACAACAAAAAACAAACACGTGAGCAAAAGAAT CCATATCATTATTAAGTTCAAGGGAAGGTACTATGCCTGGACGTGCACGT AGGCCAGATTTATGTTTCTCTCCACACAAATATCTCAGCGGAGTAAAGAA TAACAAGGCAGCATTACTGCCAGCATGTCTCGCCTCCCGCCACAGGGCAG CTTTTCGCCGAGCTCAGAGTTGAACAAATGTACGATCGGGCTTTACACCG AGACATTCAGTTCCCAGGGGCAAGCAGGAGACAGTGGCCTTCCTCCATCT GAACTGCAAGAGGCGTTCCTCTTTGACTAATCCACCTCAGCACAGACCCA TTGCGGGTGTCAGGCTGGGGGACAGTCCGGTCTTTTCCATCCCACGAGGC CATATTTCAGACTGTCACATGGGGAGAAACCTTGGACAATACCCTGCTTT CAAGGGCAGAGGTCCCTGTGGCTTTCCACGGTGCATTGCACCCCTGGTTT ATTGAGACTAGGGAATGGCAATGACTCCTACCAAGGATACTGCTCGTAAA CATTTGGTAAACAAGGCGCGTCCTGCACAGCCCTAGATCCCTTAAACCTC GATTTTATACAACACAGGTTTTTGTGAGCTCCAAGTTGGGTCAAAGGAAG GGGCTGCGGGAAAGCTACAAATGATCAACATCTCAGCAAAGCAATTGTTT AAACTACAGGTCTTTTTCAAAATGGAGTCTCTTATGTCTTCCCCTTCTAC ATAGACACAGTGACAGTCTGATCTCTCTTTCTTTACCCTACATCCAAGGG CTTGAACATTTCTTGACTTGTTGGCAATCCAAATCGTTACGTCTCCGAAA CAGAGTTGACTGAGGGGACCGCAGGGCTGGGCAGGACCTTTGACTTCCTA TACATCCACAGGAGCAAGAAAACCTCAGCCCCACTCTACCAACACGCACC TAGTAAAATTCCGCCAACCGAATCTCACGCACGCTAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0019 a0019	a0019c0024 a0019c0024	a0019c0024t0000 a0019c0024t0000	a0019c0024t0000g0019 a0019c0024t0000g0019	1	116	0.0086	-1836	c.-46 others(11): Show c.-4632_-2797del	FAM90A19	ENSG00000285657.1	transcript	ENST00000647903.1	protein_coding		4632		chr8	TogoVar
FAM90A19_chr8_7748682_7761692	7756697	GCAGGTGG others(1829): Show GCAGGTGGCAGGGGCTCCTTGGCCTCCAGCTCCCGTGACTTGGAGGGGAC TGTGGGACTGAGGAGCGCAGAGCAGAGAGCACACTCTGTGCGGTGACTCC GAAGCTCCCCGGCTGTGGCGCTTCTGTGGATGTGGGAGCCCAGGCCAGGC AGGGAGCAGATGCAGGGACTCTGCCTCATTGAATTCTGGTGAGGGACGTT GTAGTTGGCGTGGTTCTCCGGAAACGCGCCAGGAAAAGCTTCCGTGCCAG AGATTCGTTGCCTCAGAAACTGCGTGACGCGCAGGAGTCAGACTTCCGCT GGGACGTCAATAGGAAACTGGGGAATTACTGTGTATTTGCTCTCTAGATG ACTGAATAAGGGAAAAGTTAGGGAACCCTGAGAGGTGCAGCCCTTCCGCT GTGCCCCGCCCTGAGAGCAGTGTTTCGGACGCTGGGAAGCGTGCTGTGCG AAGCGCTCTCGGGGTCTTTCCTCAGCCTCGAAAACTGGGCTCTGGAATGC CTTTGTACATATGTGTGTTTAATGGGTTTTGAAGTGAATAAAATTCTCAA AAAGATGACATATTGTCTTTTGACTCTCATTCCGTGTTTGTGTGTAACTG ATTTTCCAAGTGAAGGGGTGGCCTGCCCCTCCACACCTGTGGGTGTTTCT AGTCGGGTGGGATGAGAGACGGAGAAAAGAAATAAGACACAGAGACAAAG TATAGGGAGACAACAGTGGGTCCAGGGGACCGGCACTCAGCACACCTAGG ACCTGCACCGGCACCGGCCTCTGAGTTCCCTCAGTTTTTATTGATTATGA TTTTCATTATTTCAGCACAAAGGAATGCAGTAGGGGAGCAGGGTGATAAT AAGGGGAAGGTCAAAACAACAACAAAAAACAAACACGTGAGCAAAAGAAT CCATATCATTATTAAGTTCAAGGGAAGGTACTATGCCTGGACGTGCACGT AGGCCAGATTTATGTTTCTCTCCACACAAATATCTCAGCGGAGTAAAGAA TAACAAGGCAGCATTACTGCCAGCATGTCTCGCCTCCCGCCACAGGGCAG CTTTTCGCCGAGCTCAGAGTTGAACAAATGTACGATCGGGCTTTACACCG AGACATTCAGTTCCCAGGGGCAAGCAGGAGACAGTGGCCTTCCTCCATCT GAACTGCAAGAGGCGTTCCTCTTTGACTAATCCACCTCAGCACAGACCCA TTGCGGGTGTCAGGCTGGGGGACAGTCCGGTCTTTTCCATCCCACGAGGC CATATTTCAGACTGTCACATGGGGAGAAACCTTGGACAATACCCTGCTTT CAAGGGCAGAGGTCCCTGTGGCTTTCCACGGTGCATTGCACCCCTGGTTT ATTGAGACTAGGGAATGGCAATGACTCCTACCAAGGATACTGCTCGTAAA CATTTGGTAAACAAGGCGCGTCCTGCACAGCCCTAGATCCCTTAAACCTC GATTTTATACAACACAGGTTTTTGTGAGCTCCAAGTTGGGTCAAAGGAAG GGGCTGCGGGAAAGCTACAAATGATCAACATCTCAGCAAAGCAATTGTTT AAACTACAGGTCTTTTTCAAAATGGAGTCTCTTATGTCTTCCCCTTCTAC ATAGACACAGTGACAGTCTGATCTCTCTTTCTTTACCCTACATCCAAGGG CTTGAACATTTCTTGACTTGTTGGCAATCCAAATCGTTACGTCTCCGAAA CAGAGTTGACTGAGGGGACCGCAGGGCTGGGCAGGACCTTTGACTTCCTA TACATCCACAGGAGCAAGAAAACCTCAGCCCCACTCTACCAACACGCACC TAGTAAAATTCCGCCAACCGAATCTCACGCACGCTAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0019 a0019	a0019c0024 a0019c0024	a0019c0024t0000 a0019c0024t0000	a0019c0024t0000g0019 a0019c0024t0000g0019	1	116	0.0086	-1836	c.6_ others(8): Show c.6_*1841del	FAM90A19	ENSG00000285657.1	transcript	ENST00000647903.1	protein_coding		6		chr8	TogoVar
FAM90A22_chr8_7566995_7580006	7570151	GTGTTAGC others(1829): Show GTGTTAGCGTGCGTGAGATTCGGTTGGCGGAATTTTACTAGGTGCGTGTT GGTAGAGTGGGGCTGAGGTTTTCTTGCTCCTGTGGATGTATAGGAAGTCA AAGGTCCTGCCCAGCCCTGCGGTCCCCTCAGTCAACTCTGTTTCGGAGAG GTAACGATTTGGATTGCCAACAAATCAAGAAATGTTCAAGCCCTTGGATG TAGGGTAAAGAAAGAGAGATCGGACTGTCACTGTGTCTATGTAGAAGGGG AAGACATAAGAGACTCCATTTTGAAAAAGACCTGTACTTTAAACAATTGC TTCACTGAGATGTTGATCATTTGTAGCTTTGCCGCAGCCCCTTCCTTTGA CCCAACTTGGAGCTCACAAAAACCTGTGTTGTATAAAATCGAGGTTTAAG GGATCTAGGGCTGTGCAGGACGCGCCTTGTTAACCAAATGTTTACGAGCA GTATACTTGGTAGAAGTCATTGCCATTCTCTAGTCTCAATAAACCAGGGG CGCAATGTACCGTGGAAAGCCACAGGGACCTCTGCCCTTGAAAGCAGGGT ATTGTCCAAGGTTTCTCCCCATGTGACAGTCTGAAATATGGCCTCGTGGG ATGGGAAAGTCCTGAATGTCCCCCAGCCTGACACCCGCAATGGGTCTGTG CTGAGGTGGATTAGTCAAAGAGGAACGCCTCTTGCAGTTCAAATGGAGGA AGGCCACTGTCTCCTGCTTGCCCCTGGGAACTGAATGTCTCGGTGTAAAG CCCGATCGTACATTTGTTCAACTCTGAGCTCGGAGAAAAGCTGCCCTGTG GCGGGAGGTGAGACATGTTGGCAGTAATGCTGCCTTGCTTTCTTTACTCC GCTGAGATATTTGTGTGGAGAGAAACATAAATCTGGCCTACGTGCACGTC CAGGCATAGTACCTTCCCTTGAACTTAATAATGATATGGATTCTTTTGCT CACGTGTTTGTTTTTTGTTGTTGTTGTTGACCTTCCCCTTATTATCACCC TGCTCCCCTACTGCATTCCTTTGTGCTGAAATAATGAAAATCATAATCAA TAAAAACAGAGGGAACTCAGAGGCCGGTGCCGGTGCAGGTCCTAGGTGTG CTGAGTGCCTGTCCCCTGGACCCACTGTTGTCTCCCTATACTTTGTCTCT GTGTCTTATTTCTTTTCTCCGTCTCTCATCCCACCCGACTAGAAACACCC ACAGGTGTGGAGGGGCAGGCCACCCCTTCACTTGGAAAATCAGTTACACA CAAACACGGAATGAGAGTCAAAAGACAATATGTCATCTTTTTGAGAATTT TATTCACTTCAAAACACATTAAACACACATATGTACAAAGGCATTCCAGA GCCCAGTTTCCGAGGCTGAGGAAAGACCCCGAGAGCGCTTCGCACAGCAC GCTTCCCAGCGTCCGAAACACTGCTCTCAGGGCGGGGCACAGCGGAAGGG CTGCACCTCTCAGGGTTCCCTAACTTTTCCCTTATTCAGTCATCTAGACA GCAAATACACAGTAATTCCCCAGTTTCCTATTGACGTCCCAGCGGAAGTC TGACTCCTGCGCGTCACGCAGTTTCTGAGGCAACGAATCTCTGTCACGGA AGCTTTTCCTGGCGCGTTTCGGGAGAACCACGCCAACTACAACGTCCCTC ACCAGAATTCAATGAGGCAGAGTCCCTGCATCTGCTCCCTGCCTGGCCTG GGCTCCCACATCCACAGAAGCGCCACAGCCGGGGAGCTTCGGAGTCACCG CACAGAGTGTGCTCTCTGCTCTGCGCTCCTCAGTCCCACAGTCCCCTCCA AGTCACGGGAACTGGAGGCCAAGGAGCCCCTGCCACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA19084.hp1 NA18940.hp2 NA19084.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0000 a0009c0012t0000	a0009c0012t0000g0005 a0009c0012t0000g0005	2	88	0.0227	-1836	c.8_ others(8): Show c.8_*1843del	FAM90A22	ENSG00000285687.1	transcript	ENST00000648590.1	protein_coding		1843		chr8	TogoVar
FAM90A22_chr8_7566995_7580006	7577800	GTGTTAGC others(1829): Show GTGTTAGCGTGCGTGAGATTCGGTTGGCGGAATTTTACTAGGTGTGTGTT GGTAGAGTGGGGCTGAGGTTTTCTTGCTCCTGTGGATGTATAGGAAGTCA AAGGTCCTGCCCAGCCCTGCGGTCCCCTCAGTCAACTCTGTTTTGGAGAC GTAACGATTTGGATTGCCAACAAATCAAGAAATGTTCAAGCCCTTGGATG TAGGGTAAAGAAAGAGAGATCAGACTGTCACTGTGTCTATGTAGAAGGGG AAGACATAAGAGACTCCATTTTGAAAAAGACCTGTACTTTAAACAATTGC TTTACTGAGATGTTGATCATTTGTAGCTTTGCCGCAGCCCCTTCCTTTGA CCCAACTTGGAGCTCACAAAAACCTGTGTTGTATAAAATCGAGGTTTAAG GGATCTAGGGCTGTGCAGGACGCGCCTTGTTAACCAAATGTTTACGAGCA GTATACTTGGTAGAAGTCATTGCCATTCTCTAGTCTCAATAAACCAGGGG CGCAATGTACCGTGGAAAGCCACAGGGACCTCTGCCCTTGAAAGCAGGGT ATTGTCCAAGGTTTCTCCCCATGTGACAGTCTGAAATATGACCTCGTGGG ATGGGAAAGTCCTGAATGTCCCCCAGCCTGACACCCGCAATGGGTCTGTG CTGAGGTGGATTAGTCAAAGAGGAACGCCTCTTGCAGTTCAAATGGAGGA AGGCCACTGTCTCCTGCTTGCCCCTGGGAACTGAATGTCTCGGTGTAAAG CCCGATCGTACATTTGTTCAACTCTGAGCTCGGAGAAAAGCTGCCCTGTG GCGGGAGGTGAGACATGTTGGCAGTAATGCTGCCTTGCTTTCTTTACTCC GCTGAGATATTTGTGTGGAGAGAAACATAAATCTGGCCTACATGCACGTC CAGGCATAGTACCTTCCCTTGAACTTAATAATGATATGGATTCTTTTGCT CACGTGTTTGTTTTTTGTTGTTGTTGTTGACCTTCCCCTTATTATCACCC TGCTCCCCTACTGCATTCCTTTGTGCTGAAATAATGAAAATCATAATCAA TAAAAACAGAGGGAACTCAGAGGCCGGTGCCGGTGCAGGTCCTAGGTGTG CTGAGTGCCTGTCCCCTGGACCCACTGTTGTCTCCCTATACTTTGTCTCT GTGTCTTATTTCTTTTCTCCGTCTCTCATCCCACCCGACTAGAAACACCC ACAGGTGTGGAGGGGCAGGCCACCCCTTCACTTGGAAAATCAGTTACACA CAAACACGGAATGAGAGTCAAAAGACAATATGTCATCTTTTTGAGAATTT TATTCACTTCAAAACACATTAAACACACATATGTACAAAGGCATTCCAGA GCCCAGTTTTCGAGGCTGAGGAAAGACCCCGAGAGCGCTTCGCACAGCAC GCTTACCAGCGTCCGAAACACTGCTCTCAGGGCGGGGCACAGCGGAAGGG CTGCACCTCTCAGGGTTCCCTAACTTTTCCCTTATTCAGTCATCTAGACA GCAAATACACAGTAATTCCCCAGTTTCCTATTGACGTCCCAGCGGAAGTC TGACTCCTGCGCGTCACGCAGTTTCTGAGGCAACGAATCTCTGTCACGGA AGCTTTTCCTGGCGCGTTTCGGGAGAACCACGCCAACTACAACGTCCCTC ACCAGAATTCAATGAGGCAGAGTCCCTGCATCTGCTCCCTGCCTGGCCTG GGCTCCCACATCCACAGAAGCGCCACAGCCGGGGAGCTTCGGAGTCACCG CACAGAGTGTGCTCTCTGCTCTGCGCTCCTCAGTCCCACAGTCCCCTCCA AGTCACGGGAACTGGAGGCCAAGGAGCCCCTGCCACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG02080.hp1 NA18747.hp2 others(11): Show HG01346.hp2 HG02080.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18956.hp1 NA18961.hp1 NA18965.hp2 NA18992.hp2 NA19057.hp1 NA19064.hp2 NA19068.hp1 NA19078.hp1 NA19084.hp1	a0002 a0009 a0024 others(2): Show a0002 a0009 a0024 a0025 a0026	a0002c0001 a0009c0012 a0024c0026 others(2): Show a0002c0001 a0009c0012 a0024c0026 a0025c0025 a0026c0027	a0002c0001t0000 a0009c0012t0000 a0024c0026t0000 others(2): Show a0002c0001t0000 a0009c0012t0000 a0024c0026t0000 a0025c0025t0000 a0026c0027t0000	a0002c0001t0000g0001 a0002c0001t0000g0017 a0009c0012t0000g0005 others(3): Show a0002c0001t0000g0001 a0002c0001t0000g0017 a0009c0012t0000g0005 a0024c0026t0000g0020 a0025c0025t0000g0019 a0026c0027t0000g0021	14	88	0.1591	-1836	c.-46 others(11): Show c.-4630_-2795del	FAM90A22	ENSG00000285687.1	transcript	ENST00000648590.1	protein_coding		2795		chr8	TogoVar
FAM90A23_chr8_7574644_7587653	7577800	GTGTTAGC others(1829): Show GTGTTAGCGTGCGTGAGATTCGGTTGGCGGAATTTTACTAGGTGTGTGTT GGTAGAGTGGGGCTGAGGTTTTCTTGCTCCTGTGGATGTATAGGAAGTCA AAGGTCCTGCCCAGCCCTGCGGTCCCCTCAGTCAACTCTGTTTTGGAGAC GTAACGATTTGGATTGCCAACAAATCAAGAAATGTTCAAGCCCTTGGATG TAGGGTAAAGAAAGAGAGATCAGACTGTCACTGTGTCTATGTAGAAGGGG AAGACATAAGAGACTCCATTTTGAAAAAGACCTGTACTTTAAACAATTGC TTTACTGAGATGTTGATCATTTGTAGCTTTGCCGCAGCCCCTTCCTTTGA CCCAACTTGGAGCTCACAAAAACCTGTGTTGTATAAAATCGAGGTTTAAG GGATCTAGGGCTGTGCAGGACGCGCCTTGTTAACCAAATGTTTACGAGCA GTATACTTGGTAGAAGTCATTGCCATTCTCTAGTCTCAATAAACCAGGGG CGCAATGTACCGTGGAAAGCCACAGGGACCTCTGCCCTTGAAAGCAGGGT ATTGTCCAAGGTTTCTCCCCATGTGACAGTCTGAAATATGACCTCGTGGG ATGGGAAAGTCCTGAATGTCCCCCAGCCTGACACCCGCAATGGGTCTGTG CTGAGGTGGATTAGTCAAAGAGGAACGCCTCTTGCAGTTCAAATGGAGGA AGGCCACTGTCTCCTGCTTGCCCCTGGGAACTGAATGTCTCGGTGTAAAG CCCGATCGTACATTTGTTCAACTCTGAGCTCGGAGAAAAGCTGCCCTGTG GCGGGAGGTGAGACATGTTGGCAGTAATGCTGCCTTGCTTTCTTTACTCC GCTGAGATATTTGTGTGGAGAGAAACATAAATCTGGCCTACATGCACGTC CAGGCATAGTACCTTCCCTTGAACTTAATAATGATATGGATTCTTTTGCT CACGTGTTTGTTTTTTGTTGTTGTTGTTGACCTTCCCCTTATTATCACCC TGCTCCCCTACTGCATTCCTTTGTGCTGAAATAATGAAAATCATAATCAA TAAAAACAGAGGGAACTCAGAGGCCGGTGCCGGTGCAGGTCCTAGGTGTG CTGAGTGCCTGTCCCCTGGACCCACTGTTGTCTCCCTATACTTTGTCTCT GTGTCTTATTTCTTTTCTCCGTCTCTCATCCCACCCGACTAGAAACACCC ACAGGTGTGGAGGGGCAGGCCACCCCTTCACTTGGAAAATCAGTTACACA CAAACACGGAATGAGAGTCAAAAGACAATATGTCATCTTTTTGAGAATTT TATTCACTTCAAAACACATTAAACACACATATGTACAAAGGCATTCCAGA GCCCAGTTTTCGAGGCTGAGGAAAGACCCCGAGAGCGCTTCGCACAGCAC GCTTACCAGCGTCCGAAACACTGCTCTCAGGGCGGGGCACAGCGGAAGGG CTGCACCTCTCAGGGTTCCCTAACTTTTCCCTTATTCAGTCATCTAGACA GCAAATACACAGTAATTCCCCAGTTTCCTATTGACGTCCCAGCGGAAGTC TGACTCCTGCGCGTCACGCAGTTTCTGAGGCAACGAATCTCTGTCACGGA AGCTTTTCCTGGCGCGTTTCGGGAGAACCACGCCAACTACAACGTCCCTC ACCAGAATTCAATGAGGCAGAGTCCCTGCATCTGCTCCCTGCCTGGCCTG GGCTCCCACATCCACAGAAGCGCCACAGCCGGGGAGCTTCGGAGTCACCG CACAGAGTGTGCTCTCTGCTCTGCGCTCCTCAGTCCCACAGTCCCCTCCA AGTCACGGGAACTGGAGGCCAAGGAGCCCCTGCCACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01361.hp1 HG01515.hp1 others(16): Show HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01943.hp1 HG02071.hp1 HG02080.hp1 HG03516.hp1 NA18940.hp1 NA18940.hp2 NA18947.hp1 NA18949.hp2 NA18953.hp1 NA18977.hp2 NA18978.hp1 NA19057.hp1 NA19067.hp2 NA19082.hp1 NA19085.hp1 NA19090.hp1	a0003 a0006 a0019 others(3): Show a0003 a0006 a0019 a0020 a0022 a0039	a0003c0004 a0003c0025 a0006c0007 others(4): Show a0003c0004 a0003c0025 a0006c0007 a0019c0026 a0020c0023 a0022c0024 a0039c0045	a0003c0004t0000 a0003c0025t0000 a0006c0007t0000 others(4): Show a0003c0004t0000 a0003c0025t0000 a0006c0007t0000 a0019c0026t0000 a0020c0023t0000 a0022c0024t0000 a0039c0045t0000	a0003c0004t0000g0004 a0003c0004t0000g0010 a0003c0004t0000g0027 others(8): Show a0003c0004t0000g0004 a0003c0004t0000g0010 a0003c0004t0000g0027 a0003c0004t0000g0041 a0003c0025t0000g0030 a0006c0007t0000g0008 a0006c0007t0000g0034 a0019c0026t0000g0033 a0020c0023t0000g0028 a0022c0024t0000g0029 a0039c0045t0000g0078	19	142	0.1338	-1836	c.8_ others(8): Show c.8_*1843del	FAM90A23	ENSG00000285765.1	transcript	ENST00000648435.1	protein_coding		1843		chr8	TogoVar
FAM90A9_chr8_7756330_7769340	7756697	GCAGGTGG others(1829): Show GCAGGTGGCAGGGGCTCCTTGGCCTCCAGCTCCCGTGACTTGGAGGGGAC TGTGGGACTGAGGAGCGCAGAGCAGAGAGCACACTCTGTGCGGTGACTCC GAAGCTCCCCGGCTGTGGCGCTTCTGTGGATGTGGGAGCCCAGGCCAGGC AGGGAGCAGATGCAGGGACTCTGCCTCATTGAATTCTGGTGAGGGACGTT GTAGTTGGCGTGGTTCTCCGGAAACGCGCCAGGAAAAGCTTCCGTGCCAG AGATTCGTTGCCTCAGAAACTGCGTGACGCGCAGGAGTCAGACTTCCGCT GGGACGTCAATAGGAAACTGGGGAATTACTGTGTATTTGCTCTCTAGATG ACTGAATAAGGGAAAAGTTAGGGAACCCTGAGAGGTGCAGCCCTTCCGCT GTGCCCCGCCCTGAGAGCAGTGTTTCGGACGCTGGGAAGCGTGCTGTGCG AAGCGCTCTCGGGGTCTTTCCTCAGCCTCGAAAACTGGGCTCTGGAATGC CTTTGTACATATGTGTGTTTAATGGGTTTTGAAGTGAATAAAATTCTCAA AAAGATGACATATTGTCTTTTGACTCTCATTCCGTGTTTGTGTGTAACTG ATTTTCCAAGTGAAGGGGTGGCCTGCCCCTCCACACCTGTGGGTGTTTCT AGTCGGGTGGGATGAGAGACGGAGAAAAGAAATAAGACACAGAGACAAAG TATAGGGAGACAACAGTGGGTCCAGGGGACCGGCACTCAGCACACCTAGG ACCTGCACCGGCACCGGCCTCTGAGTTCCCTCAGTTTTTATTGATTATGA TTTTCATTATTTCAGCACAAAGGAATGCAGTAGGGGAGCAGGGTGATAAT AAGGGGAAGGTCAAAACAACAACAAAAAACAAACACGTGAGCAAAAGAAT CCATATCATTATTAAGTTCAAGGGAAGGTACTATGCCTGGACGTGCACGT AGGCCAGATTTATGTTTCTCTCCACACAAATATCTCAGCGGAGTAAAGAA TAACAAGGCAGCATTACTGCCAGCATGTCTCGCCTCCCGCCACAGGGCAG CTTTTCGCCGAGCTCAGAGTTGAACAAATGTACGATCGGGCTTTACACCG AGACATTCAGTTCCCAGGGGCAAGCAGGAGACAGTGGCCTTCCTCCATCT GAACTGCAAGAGGCGTTCCTCTTTGACTAATCCACCTCAGCACAGACCCA TTGCGGGTGTCAGGCTGGGGGACAGTCCGGTCTTTTCCATCCCACGAGGC CATATTTCAGACTGTCACATGGGGAGAAACCTTGGACAATACCCTGCTTT CAAGGGCAGAGGTCCCTGTGGCTTTCCACGGTGCATTGCACCCCTGGTTT ATTGAGACTAGGGAATGGCAATGACTCCTACCAAGGATACTGCTCGTAAA CATTTGGTAAACAAGGCGCGTCCTGCACAGCCCTAGATCCCTTAAACCTC GATTTTATACAACACAGGTTTTTGTGAGCTCCAAGTTGGGTCAAAGGAAG GGGCTGCGGGAAAGCTACAAATGATCAACATCTCAGCAAAGCAATTGTTT AAACTACAGGTCTTTTTCAAAATGGAGTCTCTTATGTCTTCCCCTTCTAC ATAGACACAGTGACAGTCTGATCTCTCTTTCTTTACCCTACATCCAAGGG CTTGAACATTTCTTGACTTGTTGGCAATCCAAATCGTTACGTCTCCGAAA CAGAGTTGACTGAGGGGACCGCAGGGCTGGGCAGGACCTTTGACTTCCTA TACATCCACAGGAGCAAGAAAACCTCAGCCCCACTCTACCAACACGCACC TAGTAAAATTCCGCCAACCGAATCTCACGCACGCTAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG02080.hp2 NA18962.hp2 HG01981.hp2 HG02080.hp2 NA18962.hp2	a0006 a0009 a0011 a0006 a0009 a0011	a0006c0006 a0009c0009 a0011c0011 a0006c0006 a0009c0009 a0011c0011	a0006c0006t0000 a0009c0009t0000 a0011c0011t0000 a0006c0006t0000 a0009c0009t0000 a0011c0011t0000	a0006c0006t0000g0006 a0009c0009t0000g0002 a0011c0011t0000g0010 a0006c0006t0000g0006 a0009c0009t0000g0002 a0011c0011t0000g0010	3	92	0.0326	-1836	c.-46 others(11): Show c.-4632_-2797del	FAM90A9	ENSG00000285607.1	transcript	ENST00000648344.1	protein_coding		4632		chr8	TogoVar
RBFOX1_chr16_7327845_7718340	7371856	GTGTGACT others(1829): Show GTGTGACTTTATCTTGCTTAATTTCACTTGATGATATGCCATGGAGCCTC CTTCAGTTTTTCTACACTAGGTGGCTGTGACATACCTTATTTAAGTCATT CCCTTAATTCCTTTTTTTTTCCATTATAAACATTACTGCTACACATGCAT ACACTGAGTTATCTGATAGAGATATTTAAATAAAACATATATATGGGCCC TGATTACTTTTTACTGCCATGTTAATTTCCTAGCAGTGTGATTGTTGGGT CCAAAAGTTGGTGTCTCATAACTTCCATTTAAAGATGTGATTCAAAACTT ACCTCCTACTATATATAATGCTATTCAATTCACATCACTTTCTCACCATC AGTGCAGACATCCTATTTGGGCCTCGGAGCTGGAGTTCACGTAAGGATGA GTAACCACTTCATACTTCAGATCCCATGAGAGCGGGATCATGTCGGTACT AGCAGGCTCTAAAGGACACAGTGTTCACCCTGCTTAGGATCAGACAACTG CCTAGTCTGTGCCAGGCATCTGATACTTGCCTTGGTAATAGGATTTTGCT TGAAGTTCTCCTTATGCCTCTTTATTTCTTTTATTTATTTGTGCTGACAA GTTAGAGTGTAAGCTCATTGAAGCCTGTGGCCATGTACAGAAAGAGAGGT CACATCTTCTGCCAACCCTGATTGATTAGTAGTGGCTGTTAGGAGCTCTG TCTGGAGAAGGATTGCATCTGACTTAGGAAGAAGGAGTTTCAGAATCAAT TAGTAATGTCTGCTAAGTGCACAGAATGGTGGAGGGGCAGCCTGTGTCCC CAGTATTCTTTTTCCATTCTTCCATAATAAATTAGGATTATTATTATGGT TATTGAGGGCTTACAGAAAATTTTTGAATCAATATAAAAAGCAGCAATGG GAAAAGGAGAAGAGAGGGAGAAAGGGAGGGAGGAAGAGAAGGAGGAAAAG AGAAGAGCAGGAGACAGAGAGAGAGAAGTTATACTCAAATATACGAAGAA TATCTTGCTTCTAGGTGGCTTTATATTTGAGCTTTTCTATAGTTTTGAAA TTTATAGGAATTTAAAAACATAGAAATTGCATTTTTTTTTTTTTGAGATG GAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCATTCTTGGCTC ACTGCAAGCTCCGTCTCCCAGGCTGTAGCCATTCTCTTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCGTGGCTAATTTTTTT GTATTTTTTAGTGAGACGGTGTTTCACCGTGTTAGCCAGGATGGTTATCG CTCTCCTGACCTTGTGATCTACCTGCCTTGGCCTCCCAAAGTGCTGGGAT TACAGGTGTGAGCCACCGCGTCTGGCTGAAATTGCATTACTTTTAATTCT AAAACAACAATTAGTTTTGCACCAACCTAAGGAACATACGTTACATTTGA ATTTAGAACATAAAGATCACAATACATGTTATAGTAAAGACAGTCTTTTG AAGCAAAGCTACAGGTACTATTAAGAGGCACAGTGATCCTGAGATGGGAA ATGGAGGGCAGTTCTCTGTCGTTCTGCAGTTTCTTGGTTTTGTGAGACCA CTAAGTGATGTCCGTTCTCTCCTGGCAGAATAGATGGTGTTAATCTCCAG TCCCTTGTAATAAATGCTGGACTGTGAACAGGAGATGGCTAAAAGAGAGT GCCCGGGCAAGCCTTTATCTTTAATAAGGTCCACAGCCAGTCTATAATTG TCAGAAATGACAGAGGAAACAGGGCTTCTGCTATTTTGCTCAGAATAAGA AGTGGTGTCTGACCTGTGTTGGCAGCAATAATTGCAA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18957.hp1 HG02132.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0040 a0001c0001t0001 a0001c0001t0040	a0001c0001t0001g0159 a0001c0001t0040g0185 a0001c0001t0001g0159 a0001c0001t0040g0185	2	234	0.0086	-1836	c.87+ others(17): Show c.87+38771_87+40606del	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RMND5B_chr5_178126014_178155568	178132058	ATTCCAGC others(1829): Show ATTCCAGCACTTTGGGAGGCTGAGACTGGCAGACGGCTTGAGCTCAGCAC TTCAAGACCAACCTGGCCAACATGGTGAAACCCTGTCGCTCCAAAAAATT AGGCTGGGCGCAGTGGCTCACGCTTGTAACCCCAGCACTTTGGGAGGCCA AGGCGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACA TGGTGAAACCCCGTCTCTACTAAAAATACAAAATTTAGCCGGGTGTGGTG GCAGGTGTCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGC TTGAAACTGGGAAGCAAAGGTTGCAATGAGCCAAGATCGTGCCACTGTAC TCCAGCCTGGGCGACAGAGTAAGACTCTGTCTCAAAAACAAACAACAAAA AAATTAGCCAGGTGTGGTGGGGAGAGAGGGGAAGAATAGGGACAAAAGGG AATACATAAATAAACACAAAGGAGAAAAGGCCCTGCATGGACCACTTACA TGTGTCATGAACTCAGGAGTGTTCATGGTGGGACTACATGGTGCACCTGT AGTCCCAGCTTCTTGGGGTGGGGGGCTGAGGTGGGAGGATCACTTGAGCC CAGGAGGTCGAGGCTGCAGTGAGCCCTGATTGTACCACAGCACTCTGGCC TGGGAAACAGATTGAGACCCTGTCTCTCTCTTTTTTTTTTTTTTTTTAAG CAACCCTATTAACTGAAGAGACCCTGCCTCACAAAAAAAAAAAAAAAAAA AAAAAAGCGTTAAGAATTGGGTCAATGGAGGTTGTCTAATCTTTTTTTTT TGTTTTTGTTTGTTTGTTTGTTTTTTTGAGACAGTCTCACTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCTGCCTCCT GGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAG GCACGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGG TTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGC CTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCC CAGCCGATGTTGTCTAATCTTTGTCAGGCAAAAGGGACCTTTATGATTTG CTCAAACTTCCTTTCTCCTTACACAGGAGCCCCTTGTTTCAGGATGCTAA ATACTCCAGGATAAACCTCCATACATGCCTTTGTGGAGATTTTAATATTT CACTCATGTCTCTTTTCTACCCACTCCTACACATTTGAGCTCAGGTTCTC CAGCGCAGTTAGGAAATGGATGTGTCATTTAATCAGCAAATGTGTGTGTG TGTTTTTTTAAATTTGAGACGGAGTTTTTGCTCTTGTTGCCCAGGATGGA GTGCAATGGCGTGGTCTTGGCTCACTGCAACCTCCACCTCCTAGGTTCAA GCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGC CACCACGCCTCGGTAATTTTTGTATTTTTAGTAGAGACGAAGTTTCACCA TGTTGGTCAGGCGGGTCTCAAACTCTTGACCTCAGGTGAGCCACCCACCT CAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCGGCCAA TCAACAATTTTTTTTTTTTTTGGAGACGGAGTCTCACGCTGTCTCCCAGG CTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCTCCACCTCCCGGG TTCACACCATTCTCCTGCCCCAGCCTCCCGAGTAGCTGGGACTACGGGTG CCCGCCACCACACCCGGCTAATTTTTTGTATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	412	0.0024	-1836	c.-13 others(16): Show c.-13+683_-13+2518del	RMND5B	ENSG00000145916.19	transcript	ENST00000313386.9	protein_coding	2/10			chr5	TogoVar
GPR141_chr7_37678766_37748835	37747001	CCGCTCCC others(1827): Show CCGCTCCCATGTCACTATTTCCTTAGTTAGACTAGAAAGAGAGCCAGATA TCTGTTCTGAAATAATTGTCTCTCTCCTCCTATCACAACCATCTTCAAAA TTTTGCTTTGCATTTGAATTTTTATTGCATATTTAGTTTCACAACCTTAT TTCCTAAACTTTCCTAAAATTAAATTTCTGCCTCATCTCCATTTTTATCA CAACCTGTTAACTTATTGCACATTTAACCTCTGTTCTATAGAAAACATGT ATTTTGAGTTTTATCAATGGTTTAAAATTGACCAGTGCAGTCTACAATGC CTTTCCGTCTCATTCAGAAAATTCTTTTCAGACGTGCTCTTTCTACAATT TGAGCAGTTCAGGTTATTGGCCACATGTAGTTTTTTCCCCTTATTCCTGT ATTCCTAAGTAAGATATCACCAGGCCTTAGTTTTCCTTATCAACTGTGTC AGTGGCTTCTTCTCAGCAACTCCTTATTATCAGGCGCTCTTAGAGGCTTC CACTTAAATGTAAAAATTGGAGATTGATTACCAGTTCCTGGTGCTAAGTG CCCAAGGGCAAGAGAGAGGCTGTAGGGATTATGGAAAACTCTACTAACTT TGCAGTTTCTTTTGTATAGTTATTAATTCCCTTGTGTAAAGTGGTCAGCC CTGTGTACCCAGAATGATTCTGGAGTGAAGAAACTGCCCTTTTTTTGTGT GTACAAACCCCCTCTACCCAATGTCAGTGAACCTCTAAGTAATCTTCAAT CCACACACGAGAGGTGCTGATTCATAATAAAATTTTGTTTTTCCAGGGAA ATAAGAAATGCAATAATGATGCACTGAGTTTTTCTTAAAGTGAAACATAT TTAATGATATATTCAGAGACATATTTTTATAATTCACTTTATTTGTATTA TATCATAATGTACTAGAACTATTATAAGCACCATTTATAAGATTATAATT AAGTAATCTGCAAGATGGTGGTTGTGCTAAGAACCACACATAGACAATTT TCTTGACAATATTGGTCAGTTTCCAGTCTTTGGCCTTAGATGTCTTTTGG CCAGTCTTGGTATATCATGGACACAAAATGAGTTCTATATCTGCTGTTGT TATCAGTAAAGTCACCCCAGATGACACATTGCTCCAAAAATATCTGGCAA AGTTTTTAAAACAATAAATTTTTATATGCAATTGGAATTATTTGTAAAAA ATCAATAAGTGAACACACATTGAATTTCTCTCGAAGTCCTGACTTTTGAT GTATTTGATGATTAAAATTAATTCTACCTTTTATGGATATTAAAAGACCA ATAATGTTAAACATATCAAAGTGAAGTTTGTTCCAGTTGGTCTGTTTGAA TGTTCTTTTTTTTTCTTTTTCTTTTTTGACATAGAGTCTTGCTCTGTCGC CTAGGCTGGAGTGCAAAGGCACGATCTCAGCTCACTGCAACCTCCGCCTC CCAGGTTCAAGTGATTCCCCTGCCTCAGCCTCCTGAGTAGCGGGAATTAC AGATGTGTGCCACCACGCCTGGCTAATTGTTGTATTTTTAGTAGAGGCAG GGTTTCACCATGTTGACTAGGCTGGTCTCGAACTCCTGACCTCAGGTGAT CCACCTGCCTTGACCTCCCAAAATGCTGGGATTACAGGCGTGAACCACAG CGCCTGGCCTTGAATGTTTTTAAAAAGACCTGACAGAGTAAAAATGTGTA TGCCATGAATTGTGTTGTGAGTAAATTCACAGAAGGGCATGATGAGAATA ACATCCAGCCTGCCAGGAGAGTCATGCAGAATTACTTGAAAATATGAGTG TTCACATATTCACTTCAGATTTATTGAGCTAAATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	400	0.0025	-1834	c.56 others(11): Show c.5691_*7524del	GPR141	ENSG00000187037.9	transcript	ENST00000334425.2	protein_coding		3167		chr7	TogoVar
YIPF1_chr1_53846733_53894797	53885848	AGAGTATA others(1827): Show AGAGTATAATTGGATTGTTTGTAATACAAAGGATAAATGCTTGAAGTGAT GGACACCCTGTTTACCCTGATGCAATTACTACACATTACATGCCTGTATC AAAATATATGAGTGTACCCTGTAAGTATATATACCTACTACATACCCATG AAAATTAAAAAATTTTTAAAAAGCAGTAGTTTACCAGGGGGAAGGAATGC CAGAAGGAGGAACAGACAGTACCACTTTAGAAGCACAAAGGTCAAAAAGG CCCCAAGGAGGGCGATAACTCCTCTAGTTATTGGGATCAGGAAAGGTTTC TTGGAGAAGATACCATATGAGAAGGATGGCCAGAGGTGCTGGGGATGGCA TCTCATGCAAAGGGAAGGGGATGAGCAAGACCCAGAAGATGGAAAGTGTG CCCGTGATGGAGGGACAGTGACGGCATAGTTTGACTGGAGTGTGGGCTGC GTGTACCCCTAACATGACGACTCTTCACACAGTCTGCTCTGTGCTGGTTA TTCTTGTCCATCTCAGCTCCTTGAGCATAAAACTGGTATGTGTCTTATTT CTGCCACCAACATTCTCTGCTTTTACATCCTGGCATATCCTAAGCTAGTT TCAGCCTCTGCTCCTTTCCTGAAACAATGCCTTTCACCTGAAGGCTTCTG ACCTCTACTTTTTCATCCAATACTACCGTTCCTCCCCGGAGAAGCCTTTC ATGACCCACCCCCCGCCACCCCACCCCCAGCATCCTGTGTGCTTTTCTAA AGACCCAAGTCCTTAACACAGTTGATAAAGCCCTGGGTGATTTGTCACCT GCCTCCTCCTAAGCCTCACCTTGTGTCAGCTTTCCCCACCATCCGTGATC TGGAACACAAGTGTTCTCCCAATCCTTTAGGAAAAAAATTAAACTTCCTC ACTCCACAGGGGCTTTTGCGAGGGCCACTGTCTTTAAACTTTCTTGCACT GCACTCCTAGATAGGATGGCTGAGGAGGGTCTCTCTAATGAGGAGAGATT TGAACAGAGCAAAGAAGCAAGCCATAAGGCTATCTGAAGGGAGAATGTCC CACACAGAAAGATGGCACAAACATCCCAAGCTGTGAATGTACTTGGTGCA TAGGAAGAACCGTGACAGCCCATGCAGCTTGGGCAGAGACAGAAAGGACG AGAGCAGCAGATGAAATCAGAGGGTTGGAGGCTGCATCATATAGGGGCCT CCTAAGCCACAGTAAGGGCTCTGGCTTTTTCGTTTTTGTGTTTGTTTGTT TATGTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGCACAGTGGT GCGATCTCGGTTCACTGCAACCTCTGGGTTTGAGCAATTCTCCTGCCTCA GCCTCCAGAGTAGCTGGGATTACAGGCGTGCACCACCATGCCCAGCTAAT TTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCCAGACTGGTC TCGAACTCCTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCT GGGATTACAGGTGTGAGCCACTGCGCCCAGCCTGGCTTTTTCTTCTAGTG AGATGGGAGCTACTGGAAGGTTCTGAAAGAATGACATGATCTGCTTGAGT TTTAGAAGGACTACTCTGGCTGCAAAGTACAGACTGTAGAGGGATAAGGG AGGAAGCAGAAAGACCAGAAGGAAGGTAAAGGCTATAATTCAGAAAAAAG GTGACAGTGACCTTGAGCATGGTGAGAGTAGTGGTGGAGGTGGTCAGATG CTAGATGAATTTTGAAGACGAGGTTGACAGTATTTGCAAATTGAGGTGGA TTTCTAGTACTTGCAAATGAAATAGATTTATCTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp2 HG02895.hp1 others(1): Show HG02622.hp2 HG02809.hp2 HG02895.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0030 a0001c0001t0003g0171 a0001c0001t0003g0172	4	360	0.0111	-1834	c.31+ others(15): Show c.31+1225_32-2573del	YIPF1	ENSG00000058799.15	transcript	ENST00000072644.7	protein_coding	3/10			chr1	TogoVar
PRODH_chr22_18907781_18941293	18939460	ATGATGAA others(1826): Show ATGATGAATAAATACTAAGGGAACTCAGAGGCTGGCGGGATCCTCCATAT GCTGAACGCTGGTTCCCCGGTTCCCCTTATTTCTTTCTCTATACTTTGTC TCTGTGTCTTTTTCTTTTCCAAATCTCTCGTCCCACCTTACGAGAAACAC CCACAGGTGTGTAGGGGCAACCCACCCCTACATCTGGTGCCCAACATGGA GGCTTTTCTCTAGGGTGAAGGTACGCTCGAGCGTGGTCATTGAGGACAAG TCGACGAGAGATCCCGAGTACGTCTACAGTCAGCCTTACGGTAAGCTTGT GCGCTCGGAAGAAGCTAGGGTGATAATGGGGCAAACTAAAAGTAAAATTA AAAGTAAATATGCCTCTTATCTCAGCTTTATTAAAATTCTTTTAAAAAGA GGGGGAGTTAAAGTATCTACAAAAAATCTAATCAAGCTATTTCAAATAAT AGAACAATTTTGCCCATGGTTTCCAGAACAAGGAACTTTAGATCTAAAAG ATTGGAAAAGAATTGGTAAGGAACTAAAACAAGCAGGTAGGAAGGGTAAT ATCATTCCACTTACAGTATGGAATGATTGGGCCATTATTAAAGCAGCTTT AGAACCATTTCAAACAGAAGAAGATAGCGTTTCAGTTTCTGATGCCCCTG GAAGCTGTTTAATAGATTGTAATGAAAAGACAAGGAAAAAATCCCAGAAA GAAACGGAAAGTTTACATTGCGAATATGTAGCAGAGCCGGTAATGGCTCA GTCAACGCAAAATGTTGACTATAATCAATTACAGGAGGTGATATATCCTG AAACGTTAAAATTAGAAGGAAAAGGTCCAGAATTAGTGGGGCCATCAGAG TCTAAACCACGAGGGACAAGTCCTCTTCCAGCAGGTCAGGTGCCCGTAAC ATTACAACCTCAAAAGCAGGTTAAAGAAAATAAGACCCAACCGCCAGTAG CCTATCAATACTGGCCTCCGGCTGAACTTCAGTATCGGCCACCCCCAGAA AGTCAGTATGGATATCCAGGAATGCCCCCAGCACCACAGGGCAGGGCGCC ATACCCTCAGCCGCCCACTAGGAGACTTAATCCTACGGCACCACCTAGTA GACAGGGTAGTGAATTACATGAAATTATTGATAAATCAAGAAAGGAAGGA GATACTGAGGCATGGCAATTCCCAGTAACGTTAGAACCGATGCCACCTGG AGAAGGAGCCCAAGAGGGAGAGCCTCCCACAGTTGAGGCCAGATACAAGT CTTTTTCGATAAAAATGCTAAAAGATATGAAAGAGGGAGTAAAACAGTAT GGACCCAACTCCCCTTATATGAGGACATTATTAGATTCCATTGCTTATGG ACATAGACTCATTCCTTATGATTGGGAGATTCTGGCAAAATCGTCTCTCT CACCCTCTCAATTTTTACAATTTAAGACTTGGTGGATTGATGGGGTACAA GAACAGGTCCGAAGAAATAGGGCTGCCAATCCTCCAGTTAACATAGATGC AGATCAACTATTAGGAATAGGTCAAAATTGGAGTACTATTAGTCAACAAG CATTAATGCAAAATGAGGCCATTGAGCAAGTTAGAGCTATCTGCCTTAGA GCCTGGGAAAAAATCCAAGACCCAGGAAGTGCCTGCCCCTCATTTAATAC AGTAAGACAAGGTTCAAAAGAGCCCTATCCTGATTTTGTGGCAAGGCTCC AAGATGTTGCTCAAAAGTCAATTGCCGATGAAAAAGCCCGTAAGGTCATA GTGGAGTTGATGGCATATGAAAACGCCAATCCTGAGTGTCAATCAGCCAT TAAGCCATTAAAAGGAAAGGTTCCTGCAGGATCA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02486.hp2 others(13): Show HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02886.hp2 HG02896.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA19030.hp2 NA19043.hp1 NA20129.hp1	a0001 a0003 a0009 others(3): Show a0001 a0003 a0009 a0031 a0033 a0036	a0001c0009 a0003c0003 a0003c0026 others(4): Show a0001c0009 a0003c0003 a0003c0026 a0009c0040 a0031c0075 a0033c0078 a0036c0084	a0001c0009t0001 a0003c0003t0001 a0003c0026t0001 others(4): Show a0001c0009t0001 a0003c0003t0001 a0003c0026t0001 a0009c0040t0002 a0031c0075t0002 a0033c0078t0001 a0036c0084t0002	a0001c0009t0001g0004 a0003c0003t0001g0202 a0003c0026t0001g0040 others(6): Show a0001c0009t0001g0004 a0003c0003t0001g0202 a0003c0026t0001g0040 a0003c0026t0001g0203 a0009c0040t0002g0204 a0009c0040t0002g0205 a0031c0075t0002g0206 a0033c0078t0001g0207 a0036c0084t0002g0201	16	409	0.0391	-1833	c.-50 others(11): Show c.-5006_-3174del	PRODH	ENSG00000100033.17	transcript	ENST00000357068.11	protein_coding		3168		chr22	TogoVar
UNC13B_chr9_35157009_35410335	35372683	GTGCAAGA others(1826): Show GTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTC TGGGCTTGGCAGATACATGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGC AGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTGGCAGATACATGGGGCC CTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTC TCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAA GGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGG CCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAAC TCTCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAGCA AGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGG GGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTT AACTCTCTGGGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCTA GCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTGGCAGATACA TGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGAC TTAACTCTCTGGGCTTGGCAGATACATGGGCCCCTGTGCAAGAGTGTGGC TAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTGGCAGATA CATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAG ACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTG GCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGA TACATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCT CAGACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCTGTGCAAGAGT GTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGC AGATACATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGC TCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAA GAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCT TGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCC CAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCTGTG CAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGG GCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGC CCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCCT GTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTC TGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGG CAGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTGGCAGATACATGGGCC CTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTC TCTGGGCTTGGCATATACATCGGGCCCTGTGCAAGAGTGTGGCTAGCAAG GCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGG CCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAA CTCTCTGGGCTTGGCAGATACATGGGGCCCCCTA	G G	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0045 a0002c0003t0001g0045	1	224	0.0045	-1833	c.954 others(18): Show c.9540+2339_9541-560del	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	13/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
PPP1R15B_chr1_204398381_204416817	204413660	TGAGACGA others(1825): Show TGAGACGAGTCTCGCTCTGTTGCCCAGGATATAGTGCAGTGGTGTGATCT CTGCTCACTGCAACCTCCGCCTTCCTGGGTTCAAACTATTATCCTGCCTC AGCCTCCCTAGTAGCTAGGACTACAGGCACATGCCACCACGCCCGGCTAA TTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTAGCCAGGATGGT CTCAATTTCCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCACGTTCGGCACAACCACTTCTTTCTAGGA AGCCAAGAGGACCTCAGTTTCTGTTGTTTATCCTGTATTATTATCCATAC CTCTGGAAAATCTCAATCCTATGAACTTCAGAAAAATGTATTAATAATAG AGGTCAGTTTCATAATACAGATCCAAGTAGGCAAATTTGTTACCAGAAGC CTGTTTCTTGTAAAGTGAGGCTAGTAATTCCTCTTTCAATGGATTGGTAA GAAAACTAAGTTTTCTCAGTGCCTAGCCTAGACAGAGTAGGAGCACAAAG ATTAGCTAATATTCTTGTGTGGTTCTGCTTTACAGTCTTCAGTTGTTTCC TCATTGCCTGCAGAATAAAGGCTCTATGCAGCCTGCCCTCCCACTGTACT CTTCCAGCCTCCTCTGTCACTTGTCTTCATGCATGTTATATTCTAGGAAC ATTGGACTTACCTGTACTCCTTGCTTCCTGCCTTTACTCATGCTGTTTCT CAGCCAAGAAAAGCTTCACCTTTCCTGTTACATACCTACTCATCCTTCAA GATCCAATTCAAATGTCAGCTTCTCCTTGAAGCCTTCATTGACCTTTCCA GCCAGAATTAATGGATCCCTCACAGTACTTATATTATTCCGCTCTATTAG AGCACTTAACACATTGCATTACATATACCTGTAAGTATTCTCTCTTGCTG GTCCCTGAATTCCTTGAGGGCTGTATCCAACTATCTAGAAAAGTGGTTCC CAAAGTATGGTCTGGGCACCCCTGGGGATCCTCCTTTGAAACCCTTTCAG AGGGTCCTTAAGGCCAAAAATATTTCCATAATAATTCTCAGCTTTTTTAA CTCTCATTTTCTCATGTATGTACAGTGAAGTCTTCTGGAAGATACATGGT GTGTGAACTGTCAACAGAATGAATGCAAAAGCAGATAGATACGAGATTCT AGCTGTTTTATATTAAGCCAGATACTAAAGACATTTGGAAAAAATGTAAG ACAATGCCACTTTTCTCACTAAGCTTTTTATGTTTTGAAAAATAATTGAA CATTACCAGCCTGGGCAACATGGCAAAACCCTGTCTCTACAAAACATACA AAAATTAGCCAGGCATGACGGTGCACGCCTGTGGTCCCAGCTACTCAGGA GGCTGAGGTGGGAGGATTGCTCAAGCCTGGGAGGCAGAGGTTGCAGTGAG CCAAGATTGTGCCACTGCACTCCATCCTGGGCAACAGAGTGAGATCCTGC CTCAAAAAAAAAAAAAAAATTAACATGTAATTGGTTATTTTTAAATGAAT TTTAAAATTTTATTGTATTTTTCATTAAAGACAGAGTTTCATATGTTGCC CAGGCTGGAGTGCAGTGCGTATTCACAGGGGCAATCACAGCACACTATGG CCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCTTCAGCCTCCCAAGTAG CTGGAACGACAGGTGCACACCACCACACCCAGCCTAAATGAACATTTTTC AGTTCCTCGGTCTTGAATTCATAAATAGGAAATATTGATAGCTATAAACC ACATAAAGGTATAAAGATAGTTATTTGGGGTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	394	0.0025	-1832	c.-40 others(11): Show c.-4081_-2250del	PPP1R15B	ENSG00000158615.10	transcript	ENST00000367188.5	protein_coding		1844		chr1	TogoVar
DLG2_chr11_83450173_85632344	85537506	AGGGATGA others(1823): Show AGGGATGAACAACTCCAGACGGGAGGGATGAACAACTCCAGATGGGAGGA ATGAACAACTCCAGACGTGCCACCTTTGTGAACTGTAACACTCACCACGA AGGTCTGCAGCTTCACTCATGAGGCCAGCAAGACCACGAACCCACCAGAA GGAATGAACAACTCCAGATATGCCGCCTTTAAGAGCTGTAACACTCACTG TGAAGGTCTGCAGCTTCACTCCTGAAGTCAGTGAGACCACGAACCCACCA GGAGGAAGAAACTCTGGACACATCTGAACATCTGAAGGAACAAACTGCGG ACACATCATCTTTAAGAACTGTAACACGCGGCCAGGCGTGGTGGCTCAAG CCTGTAATCCCAGCACTCTGGGAGGCCCAGGTGGGTGGATCATGAGGTCA GGAGATTGAGACCATCCAGGCTAACACAGTGAAACCCCGTCTCTACTAAA AATACAAAATATTAGCAGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTA CTTGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGCTTC CAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAG ACTCCGTCTCAAAAAATAATAAAAAATTAAAAAATAAAAAAAGAACTGTA ACACTCACTGTGAGGGTCCATGGCTTCATTCTTGAAGTCAGCAAGACCAA GAACCCACCAATTCTAGACACACTATCCCCCAAAGCCAGTCATAAAACCT AGAAACGTTACTGTAACCTTTCTATGTAAGAGCTGGCCATAAAGACATTC TCTGATCTGGCAATTATTAAAAAGTCAAGAAACAACAGATGCTGGCAAGG CTGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGAATGTAAATTAG TTCAACCATTGTGGAAGACAGTGTGGTGATTCCTCAAAGACCTAGAACCA GAAATACCATTTGACCCAGCAATTGCATTACTGGGTATATGCTCAAAGGA ATATAAATAATTATATTATAAAGATACATGCATCCATATGTCCATTGCAG CACTTTTCACAATAGCAAAGACATGGAATCCACCCAAATGCCCATCAATG ATAAACTGGATAAAGAAAATGTGGTACATATACACCGTGGAATGCTATGC AGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGC TGGAAACCATCATTCTCAGCAAACTAACACAGGGACAGAAAACCAAATAC TGCATGTTCTCACTCATAAATGGGAGCTGAACAGTGAGAACACATGGACA CAGGGAGGGAAACAATGCACACTGGGGCCTGTTGAGTGGAACAGGGGAAG GAGGAACATCAGGATAAATAGCTAATGCATGTGAGGCTTAATACCTAGGT GATGGGTTGATAGGTGCAGCAAAACACCATGGCACATATTTAAATATGTG ACAAACCTGCATGCCCTGCACATGTATCCCAGAACTCAAAATTAAATTAC ATTTTTTTAAAAAAACACCTTCTCAGATCCACCTTGTCTGAAAGTAGAGC ATTAAGACCTTCATTGCAGAAGACCTGCTGCCCTATACCTGAAAGGAAGG AATGCCACACATGGATCAAGAGGCATCTAAATAGGTAGGCCTTGCTGGGT TTCTCCACTCAAGTCTATTACCATTAGATCATTCCCTTTTTTTATCCTAT CACATTTCTGAATGCAGTGCCTTAGACTGCTCGGTCATCCTGACACATGA TACAGCTGTCACTCCATTTAATCTAAGCATAAAAATGGACAGCTGTCCCT TGAGTCTCTGGATCTATTTCTGAAGTTTCTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	14	0.0714	-1830	c.40+ others(17): Show c.40+59321_40+61150del	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	3/27			chr11	TogoVar
DOCK8_chr9_209865_470255	320432	TCAGAGAT others(1823): Show TCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCAC GGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCT CAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAG ATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTC TGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAA AGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACA CTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAAC CTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCT GGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGAC CAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCA GGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACG GAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACC GAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTC AAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGA TGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCT GTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAA GCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACAC TCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACC TGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTG GGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATC AGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAG GTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGG AAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCG AACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCA AAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGAT GGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTG TGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAG CCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACT CACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCT GACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGG GCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCA GAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGG TTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGA AAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGA ACACTCACGGAAAAAGCCCAGGTTCTGTGAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01884.hp2 HG02818.hp1 others(4): Show HG01069.hp1 HG01884.hp2 HG02818.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0007 a0013 a0021	a0001c0030 a0002c0075 a0005c0144 others(4): Show a0001c0030 a0002c0075 a0005c0144 a0005c0145 a0007c0078 a0013c0080 a0021c0147	a0001c0030t0001 a0002c0075t0003 a0005c0144t0004 others(4): Show a0001c0030t0001 a0002c0075t0003 a0005c0144t0004 a0005c0145t0001 a0007c0078t0001 a0013c0080t0001 a0021c0147t0002	a0001c0030t0001g0065 a0002c0075t0003g0085 a0005c0144t0004g0028 others(4): Show a0001c0030t0001g0065 a0002c0075t0003g0085 a0005c0144t0004g0028 a0005c0145t0001g0172 a0007c0078t0001g0035 a0013c0080t0001g0061 a0021c0147t0002g0178	7	256	0.0273	-1830	c.827 others(17): Show c.827+3365_828-3349del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSBPL9_chr1_51612092_51794219	51628704	GATGGAGC others(1823): Show GATGGAGCCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCG GCCCACTGCAGCCTCTGCCTGCTGGGTTCCAGCAATTCTCCTGCCTCAGG CTCCTGGGTAGCTGGGATTACAGGTGCGTGCCACCATGTCCAGCTAATTT TTGTATTTTTAGTACAGACGTGGTTTCACCATGTTGGCCAGGCTGGTCTC CTGACCTCAAGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCCTGAGCTACCATGCCCGGCCTTAGCTTAACACTCTCTATTCACTTG AGCTTTTCTTCTGTTCCTTTGAAGTTCTTCAAACTTGTTCTTGCCTCAGG GCCTCTGAATGTTTTCTGTCTTGGACAGGTCTAGCATGGTTGATTACTTC TTATACAGGTTTTCATTCATATGTCACTGCTCAGAGAAGCCTTTCTATAA CAAACCATCTAAAGTAGGCCTCTCACCCTCAGTTGCTATCATAATCATCT CGTTTGATTTTTCATGGCATATATTGTTATTGCTTTATTTTGTTTCTCTT GCTTATTGTCTGTTTCTGTCTTGTATGAATAGAATGTAAGTTCCATTAGA ACAGAGACTTTATTTATCTTCATCATTTTATCTCCAGCATCTAGAGCAGT GCCTGGCACTTAGTGGCTTTTCAGTAAATATAGTCATGGGTCGCTTAACA ATGGGGCAGGAGTGTGGGGAGATATCTTCTGAGAAATTTGTTAGGTGATT TTATCATTGTGTGGATGTCATAAAGTGGGCTTACACAAACTTAGATCATA TAGTTTACTACATACCTAGTCCATGTGGTAGGCTGCCACCCTGTACAGTG TGAAACTGTATGGGCAGGCCAAAGGGAAAACTTCTTGGCCTTTGGAGGTT CGCTGAAATGCAACTGACAAAAGGCAGATTCATAGGAGAAAAGGCATACA AATTCACTAATGTGGCTCGGTGCAGTGGCTCATGCCTGTAATCCCAGTGC TTTGAGAGGCTGAGGTGGGTGGATCACCTGAGATCAGGAGTTTGAGACCA GCCTGGCCAACGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAG CTGGGTGTGGTGGTGTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATTGCTTGAAACTGGGAGTTGGAGATTGCAGTGAGTCAAGACT GTGCCACTGCACTCCAGCCTGGGCGACAGAGCCATATTCCATCTCAAAAA AAAAAAATTATTAATGTGCATGGGGGAGGGGGAGTTATGGAGTGATTACC CCAACCCCCTAATGGAGTACAGTAATTTATATACCCTTTTTCACAGGGGA CGGAGGAGATGGGGAGTGTAGACAATTCTTTTAAAGGGTACTAAATGATT ACTGGGGGGAATGAATGAATCAAGGAGACAGAAAAGTCCATCCAGGTGTA GTTGCATTTCTCAGTCTTCTTTTCTGTGATAGATAATGAGATTTCAGAAA GGGGATAGAAGACAATTGTGGTTTTTTTGGTAAGATGCTTTTTTGGTCAG ATAAGGAAATGCCAGAGAGTCTCTCCCGGCGCTGGGTCAGGGAGAAACAA GACAAGGTTAGAGGGACCTTGATCCTAAGTTTTATTTCTAAGGCCTTTCA ATTTTCAAAAGCACCATGCCCAAGTGCCATATTTTCTGGGTTAGTCGTTT TCTGCACTACAACATTACTGTACTGAATACTGTAGGCAATTGTAATATAA TGGTAAATATTTGTGTATCTAAATGTATCTAAGCATAGAAAAGATACAAT AAAAATAGGTATAAAAGATAAAAAATGGTAC	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02004.hp2 HG02293.hp2 HG01928.hp2 HG02004.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0016 a0001c0001t0011 a0001c0001t0016	a0001c0001t0011g0157 a0001c0001t0011g0158 a0001c0001t0016g0156 a0001c0001t0011g0157 a0001c0001t0011g0158 a0001c0001t0016g0156	3	186	0.0161	-1830	c.111 others(19): Show c.111+11485_111+13314del	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13B_chr8_99008274_99882580	99201967	CATAGAGT others(1823): Show CATAGAGTTCTTGCAAATGCCAAATATATTATTGTTTGTGGGCTTAATCT GTTGTTCTTGTCCTAGACATAGACCTTGCTGGAATCATCCATCTAAAGAT ATTACCTATGGAAGTTGTTCTAGGATATAAAGTTCTTGGAGACTGAGATA ACAACAGTCAGAATTGTAGTCTAGGTGATCCGTTATTTTGGTTGCAAGGA TGATAGAGTGAAGGTAAATTCAAAGAGTAAGCCAAGAAAGAAAATAGGAT AATGAATAGATATTGATGAGAAAAGAATAAAATTCAAGACATTGGTTAGG TCTGGTTGTTTGAACTTAGTGAAGAAAGTGTACATTTGTGCCCTGTTAAT GTAGCTATTTACAAGAGGCCTCACTAGGCTCACAGAAATGTATGATGAAT AAATATTTTCAGTTCTACAGATTCCCAAGGGGAGGGAGTCAATAGACCTG TGAATGGATGTGACAATGCAATGGGATATCTAGAAGAAATGGGTAAATTC CTGGACACAGCCTCACAAAACTAAGCCAGAAAGAAGTCAAATCCATGAAT AGACCCAATAACAATTTCTGAAATTAAGGCAGTAATTAACAGCCTACCAA TCAAAAAAAGCCCAGGACCAGATGGATTCACAGCTGAATTCTACCAGAGG TACAAAGAGGAGCTGGTACCATTCCTTCTGAAACTATTCCAAACAACAGA AAAAGAGGGACTCCTCCCTATCTCATTTTATGAGGCCAGCATCATCCTGA TACCAAAACCTGGCAGAGACACAACAAAAAAAAATGGGCGTGGTGGCTCA TGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTA AAAAAAAAATACAAAAAATTAACTGGGCGTGGTGGTGGGCACCTGTAGTC CCAGTTACTCTGGACGCTGAGGCAGGAGAATGGCGCGAACCCAGGAGGTG GAGCTTGCAGTGGAGCTTGCAGCTTGGAGCCGAGATCACGCCACTGCACT CCAGCCTGGGCGACGGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAGGAA AATTTCAGGCTGATATCCCTGATGAACATCCATGTGAAAATCCTCAATAA AATACTGGCAAACTGAATCCAGCAGCACATCAAAAAGCTTATCCACGACG ATCAAGTCGGCTTCATCCCTGGGATGTAAGGCTGGCTCAACATAATGCAA GTCAATAAACATAATCCATCACATAAACAGAACCATTGACAAAAACCACG TGATTATCTCAATAGATGCAGAAAAGGCCTTCAATAAAATTCAACTCCCC TTCATCTAAAAACTCTCAATAAACTAGGTATTGATGGAACGTATCTCAAA ATAATAAGAGTTATTTATGGCAAACTCACAGCCAGTATCATACTGAACAG GCAAAAGCTGGAAGCATTCCCTTTGAAAACTGGCACAAGACAAGTATGCC CTCTCTTAGCACTCCTATTCAACATAGTATTGGAAGTTCTGGCCAGGATA ATCAGGCAAGAATAAGAAATAAAGGGTATTCAAACAGGAAGAGAGGAAGT CAGATTGTCTCTCTTTGCAGATGACATGATTGTATATTTAGAAAACCCCA TCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTC TCAGGATACAAAATCAATGTGGAAAAATCACAAGCATTCCTATACACCAA TAATAGACAAACAGCCAAATCATGAGCAAACTCCCATTCACAATTTTTAC AAAGAGAATAAAATACCTAGGAATCCAACTT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	134	0.0075	-1830	c.251 others(20): Show c.2515+8912_2515+10741del	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	17/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
GNA14_chr9_77418079_77653322	77551875	CATGCCTG others(1822): Show CATGCCTGTAATCCCAGTACTTTGGGAGGCCGAGTCAGGCGGATCACCTG AGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAATCCTGTCTCT ATTAAAAATACCAAAATTAGCCAGGTGTGGTGGTGGGCACTGGTAATCCC AGCTATTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGA GGTTGCAGTGAGCCAAGATCAAGCCTTTGCAGCAGGAGAGAAACTCCATC TCAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAGAAAGAAATTCAACACAA ACAATCAATTATTCCCAAAAGTTCTAAAATAAAATTGAATCTATAATATC CAGATTCTGGGGGATTATTTGTTTGGTTTTTCTTTTGGTGGGGAGTTGGT GGTGAAAAGTGAAGGACAGTGGAGGCTTTGAGAGGCTGAGAGATGAACAA ATCTGAGAAAATAATCTGGAAATGAAAATAATGAGAGATAACATGCTCCG AGCATTTCTTGGGTTTTTATAGCTTTGGTTTCTGGAAAGAATGGATTTGC TGATGAGCTTTCCTAACAGAATTGAAAACTGAAACTTTTCTTGGTCCTAC ATTCTGTGATATGTCCCAAGTTACACCAACTGGTGAATTTGATTCTCATT TTTGTTATGATATATTATTTATAACAATTGCATTCTGCTCTTTTAAGAAT TTCAAGATCACCTCACCAAGAATGATTACTCTGACATAATAAAGGAAACA AATGTTACCAAAGACCCAATTCACTCAGCAAGGGAGCAAGGGCAACCTCT TCCAGAAGGACCTACCGTTGTAGCCTTCACAACATCAGAGAAACAAGGAT AAATTTTAATATCATTATTATTTCACCTTAGTTTCTTTTTAATGCCCAAG CATTTTTGGGTTCTTATAGCCAAATACAATTAGTGCTATTAAGCATCTTA ATTGAAATGCCCATAACTATCAGATTCTAACTTATTTTCCATCCAGCGTT AAGCAGCAGAAACTGTGCCAACCAACAGAACACTGTACTGCAGGCTGCCA GGAGAAAAGTGAACATAACTCAATGAGGGTTTTCTGAAAACTGCATCTAC TGCATCATCATGACAATATGAATGAGGATCACTCCATTTACCTAATGGTG ACATGACCTGCTGGAAAAACACATCCCAGGAAAAAAGGCACATCAAAGTC CCAAACTAGCCTTATGGAAGCTAATTATTCTCATATGTCTCTCAGAGGAG CTTCATAAATATTGATCATTCATGGAAGGGTGAAATCTCAATAATTAGCC TTGTTCTTTTCTACTCCCCCAGCCCAGTTCTTGGATATACCCGGGCTCCT TCCTTAGTACCTCTCCCTAAGACTATGCAAGAGACAGGGAGAGAGTAAGG GAAGGAATGTTTATGGAGAAACCATGTGTGGCAGGCACTACACTACACCT ACCATCTTCATAAATGGCATCTCAGAGTAGTGCTGGGACTAGATCTTAAC CACATGGAAACAAGATCAGACCTATATGGCACATCAAAATCAATCCCAGG TGAGTCAATGATTTATATGCAAAAAACTTCAATGATCAGTTTTTTTTAAA ACAGCACCAATAGAAAAAAAAAGCAGGGAAAGTACATAAAGGCAATTCAC AAGAAGAGAATACAAGTAGGCATATGAAAACTATTTGGCCTCATTATCAT GGAGTGCAAATGAAAATCATGCCATACCATATTTTGTTTGCAAGAGGGGC AAATTGACAAAAAAAATCCAGTGTTAATGGGCATATGAGAAAACAGACAC CCATTCCCACTTATTTGTGTGCACAGCAAG	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02165.hp1 HG02132.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0002 a0001c0001t0007 a0001c0002t0002	a0001c0001t0007g0209 a0001c0002t0002g0171 a0001c0001t0007g0209 a0001c0002t0002g0171	2	240	0.0083	-1829	c.125 others(19): Show c.125-24451_125-22623del	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6			chr9	TogoVar
RIPK1_chr6_3063494_3120187	3092032	AGCGCCTA others(1822): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCC GCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAG CGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTC GGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTAC CTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCG CAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGC ACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCG CCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGG AACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCT GCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCA GAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCAC CTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCC TACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAA CCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGC CGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGC GCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCT AGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTA CCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACC GCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCG CACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGC GCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTCG GAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACC TGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTA ACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTG CCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAG AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	340	0.0029	-1829	c.915 others(17): Show c.915+2494_915+4322del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNG2_chr18_79792938_79905100	79893712	CCATTCAC others(1821): Show CCATTCACATCTAATGGTACAATTGATATAGTTGGGTCTGTGTCTGCTTT TGATTGGGTTGTTCCCTCCGTTCATAACGATTGAAATAGTTGGGTCTGTG TCTGCCTTTGATTGGGTTGTTCATGCCATTAATAACGATATAGTTGGGTC TGTATCTGCTTTTGATTGGGTTCTTCACTCCATTCGCATCTAATGTTAAC GATTAATATAGTTGGGTCTGTGTCTGCTTTTGATTGGGTTCTTCACTCCA TTCACATCTAATGTTAACGATTAATATAGTTGGGTCTGTGTCTGCTTTTG ATTGGTTTCTTCACTCCATTCACATCTAATGTTAACGATTAATATAGTTG GGTCCATGTCTGCTTTTGATTGGGTTGTTCACGCCATTCATAATGATTGA TATAGCTGGGTCTGTGTCTCCTTTTGATTGGGTTGTTCACACCATTCACA TCTAATGTTATGACTGATATAGTTGGGTCTGTGTCTGCTTTTGATTGAGT TCTTCACTCCATTCACATCTAATGGTTCAATTGATATAGCTGGGTCTGCG TCTCGTTCGATTAGGTTGTTCACTCCATTCACATCTAATGTTACGATTGA TATAATTGGGTCTGTGTCTGCTTTTGATTGGGTTGTTCACTCCATTCATA ACGATTGATATAGTTGGGTCTGTGTCTGCTTTTGATTGGGTTGTTCATGC CATTAATTACGATTGATATAGTCGGGTCTGTGTCTGCTTTTGATTGGGTT CTTCACTCCATTCACTTCTAATGTTACAATTGATATAGTTGGGTCTGTGT CTGCTTTTGATTGGGTTGTTCACTCCATTCATAACGATTGATATAGTTGG GTCTGTGTCTGCTTTTGATTGGGTTGTTCACTCCATTCACATCTAATGTT ACGATTGATATAGTGGGGTCTGTGTTTGCTTTTGATTGGGTTGTTCACTC CATTCACATCTAATGTTACGATTGATATAGTGGGGTCTGTGTCTGCTTTT GATTGGGTTGTTCACTCCATTCACATCTAATGTTATGATTGATATAGTTG GGTCTGTGTCTGCTTTTGATTGGGTTGTTCACTCCATTCACATCTAATGT TACGATTGATATAGTGGGGTCTGTGTATGCTTTTGATTGGGTTGTTCACT CCATTCACATCTAATGGTACGATTGATATAGTTGGGTCTGTGTCTGCTTT TGATTGGGTTGTTCACTCCATTCACATCTAATGTTACGATTGATATAGTG GGGTCTCTGTCTGCTTTAGATTGGGTTGTTCACTCCATTCACATCTAGTG TTACGATTGATATAGTTAGGTCTCTGTCTGCTTTTGATTGGGTTGTTCAC ACCATTCATAATGATTGATATAGCTGCGTCTGTGTCTGCTTTTGATTGGG TTGTTCACTCCATTCACATCTAATGGTACAATTGATATAGTTGGGTCTGT GTCTGCTTTTGATTGGGTTGTTCACTCCATTCATAACGATTTATATAGTT GGGTCTGTGTCTGCTTTTGATTGGGTTGTTCATGCCGTTAGTAACGATTT ATATAGTTGGGTCTGTTTCTGCTTTTGATTGGATTGTTCACTCCATTCAC ATTTAATGTTACAATTCATATAGTTGAGTCTGTGTCTGCTTTTGATTGGA TTGTTCACTCCATTCATAATGATTGATATAGTTGGGTCTGTGTCTTCTTT TGATTGCATTGTTCACTCCATTCATAACGATTGATATAGTTGGGTCTGTG TCTGCCTTTGATTGGGTTGTTCATGCCATTAATAACGATTGATATAGTTG GGTTTGTGTCTGCTTTTGATTGTTCACTT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	312	0.0032	-1828	c.625 others(17): Show c.625-5312_625-3485del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KATNA1_chr6_149589873_149653714	149626535	GCCTCCCA others(1820): Show GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAC ATTTACTTTTACATACAATGTTACATATAACATTGTATTAGGTGTTACAA GTAATCTAAATATGATTTAAAGCATACAGGAGGATGTGTGCAGGGTATGT GCAAATATACACCATCTGGCTGGACGCAGTGGCTCACGCCTGTAATCTCA GCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAG AACAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAA TTAGCCTGGCCTGGTGGCAGGCGCCTATAATCCCAGTTACTTGGAAAGCT GAGGCGGAAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGA GGTCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTTA AAAAATAATAATAATAATTTCAACAACAACCCTTACTGTCATAGACTTAC ATACGTGTGTGTGTATAAGCAGTGCATGAAACAGTACATCAGGTAATATT AAGTGCTATCAAGAAGAATAAAGAAGGGGGCCAGGCATGGTGGCTCATGC CTGTAATCCCAGCACTTTGAGGCTGAGGCAGGTGGATCATTTGAGGTCAG GAGTTTGAAACCCGTCTGGCCAACATGGAGAAACCCCATCTCTACTAAAA ATACAAAAATTTGGCTGGCCGTGGTGGCTCACACATGTGATCCCAGTACT TTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAG GCGGACAGATCACTTGAAGTCAGGAGTTCGAGACTAGCCTGGCAAATATG GCGAAACCCTGTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGT GCATGCCTGTAATCCCAGCTACTTGGGAGGCTGCAGTAAGCCAAGATTAC ACCACTGCATTCCAGCCTGGACGACAGAGTGAGACTCCATCTCAAAAAAA AAAAAAAAAAAAAAATTGTTGGGTAATTATTCCAGCTACTCAGGAAGCTG AGGCATTAGAATTGCCTGGACCCAGGAGGTGGAGGCTACAGTGAGCTGAG ATGCACTATTGCATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAA AAAAAAGAGAAGGGAAAGGGGCTACAGGATCATCAGGGGTGGTTTTTAGG TGGCAAAGTCAGAGACAGACTTTCTGAGGTGACAACTGAGTAGAGACCTA AATGAAAGAAGGGAACAGGTCATTCAGCACTGGAGCTGAGGGAAAGGCAG GTGAAAGGAGTGAAGCATTTGTGGGCTGGGCTTGTTCAAGGCCACAGCAC AGTGCCTGAGGGAGAGAGCTGTAAGAACTTAGGTTCCAGAGGCTGTGGGG AACCAGGTCTCATAGGGCTTGAAAGACATGAAAACTCTGGGTTTTATTCT GTGAGATGGGAAGATATTTGAGGGACATCAGCTGACATTTGAAAAGAATG TCACATCTAGTGGCATTTAAGCTATGTCTAACCTTTTCTATATAAGGCTT TAATGAACCTCCTTGTACTCACATTTTTTTTTTTTGAAACGGAGTGTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCG CCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGA CTACAGGTGCCTGTCACCATGCCCGGCTAATTTTTTTTTTTTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGGCAGAATGGTTTCGAAC TCCCGACCTTGGCATCCGCCCGCCTCGA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03195.hp2 others(1): Show HG02895.hp1 HG02897.hp2 HG03195.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018	4	296	0.0135	-1827	c.320 others(17): Show c.320+4397_321-3253del	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	3/10			chr6	TogoVar
KCNB2_chr8_72532225_72943349	72660159	AGCCTCTT others(1820): Show AGCCTCTTGCTGTGGTTCTAGACCTTCAGAAGGATGCTTGTTAAAGGAGA ATGAACTTGGAAGGTGGCTTACTTTTTTCAAGTGGGAAGGTTGAAACTAA AGAAGGTTGCAAGTGTCTGCCAGCGCATGGAGCCCCGGGAAGTGCTTTGG AGTGCCCTTGCAGAGGATGAAGGTGGTCCGATGAAGGAATCCTGCCTGAG AGTCCTTACCCCATCAGGGTGGCATCTGGTTCACGTGGGATGCTGGACCT GACTTCCTGTGCCATCACAACCAGATGCTCCTTTTTCCTTGAGGACCTGG CCACCCAGAGGATTCCCTGGTGGTTCTCACAAGCCCTACCAAATACCTCA TTTCCAACATCAGAGACATAAGTATGCCTTTTGGAATGTTTAAATTCTTC CATGATAAATTTTGTCTGATTTAATCTCTCTTTTTAGGTTATTGAGATTT CTCTCAGCTGTCAGAGCTCTCAAAGTATCACCATGAGCTTTTCTTTCATG GGAAATAGCTGGCTTTGATAACAGTAATTTACTAGAGTTTTTGTAGACAG ATTTTGGCTTGTATTTTATACATGTCCAGTCTTTACATGGATAGCTGATC TTGTCATCAGTTTTGGATAGATTCGCCTCTGTTTTTATGAGTTAAACTTG TTATTTATTGGATATTTAATGAAAATTCATTCTTTAATATAGTTCAGAAA GGAGCTAAAGTTTCTCCTGGAGTTTTTGCATCTTCCTTTCTAATGCTTTT CCCTAATTACAGGGATACTTTCTCAGCTTTAAGATTTCTAATTTGATCAT TAAGTGCATCCATTATTTTGTCTTATTCAGTTAATTTAGTGTACATTCGG TTGCTTTTTTATTTTTCAAATACATTTTTTTTTCTTGAGATGGAGTCATG CTCCATTGCCCAAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCC AGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAG GCATCGGCCACCACACCCAGCTAATTTTTGTATTTTTATTAGAGACAGAG TTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCT ACCTGCCTCAGCCTCCCAAAGTGTTGGGACTACAGGCTGAGCCACTGCGC CTTACCTCAAATACATTTTTGACTCAGCCATATCAATTGTTTTCTTCAGA ACTCCTTTTGATTTCTGTTCTAAGAGGTCTGCATTCTCTGATGCATTTGT TATATCCAATTCCACATGTCCTCACCATTCGTATTGTCTTCTTCAAGAAT AGCAACCCAGTCTCATCTTTAGCAAGAGATCATCTAGAAACCTCATTTGA CGTAGTCATTTAAACTTGTCTCATAGATACTTTAGGATACTCTGCCATTT TACTCTGTTTAATGTGTTTGTTTCTTTCCATTCCTCATCGTTTTATGAAA GCCACTTTAACTTCCTTGAGGAGTAGAATTTTCATTCACAGCATCTTTTA GTGCTGTCTGAAGTTGTTCTTCATTTCTCTGATATATTTGAAGGCTGTTT TAGTTGCAGCTACTTAAAATTGGATGTGTGTTGATGCATCTTCTAAAAAC TGAATCTTTCTTGTCATGTCAGGGGTCAGCTCAACTTATTCTAAATGTTT AGATTTCTTTTCTCAAAGGCCTGCTCTAAAAATCTCTATTTTAAACCCAA GTAGAGACCTGGAGACTTACAGTCTTTTATTAATGATCTCAGTTTTGTTT TGTCTTTGGTTTTGTTTTGTTTTCTTTTCTTTCTGATAATTTGTTGTAGA GTCTGGCTTCCATTAAAGTTGACTAAAG	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	164	0.0061	-1827	c.579 others(19): Show c.579+91852_579+93678del	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
SMIM36_chr17_55444856_55516452	55500749	TTCACTTA others(1820): Show TTCACTTATGTTTTATATTTTATAATATATAATATATTATTATATATTTT ATAATATATTATAATATATTATATTTTATAATATATATTATAATATATTA TATTATAATATATTATAATATATTATATTTTATAATATATATTATAATAT ATTATATTATAATATATTATAATATATTATATTTTATAATATATATTATA ATATATTATATTTTATAATATATATTATAATATATTATATATTATAATAT GTAACATATTATTATATTTTGTAATATATAATATATTATTATATATTATA ATATATAATATATTATTATATATTATAATATATAATATACTATTATATTT TATAATATATAATATATATCATATTTTATAATATATAATATATCTTATAT TTTATAATATATAATATATCTTATATATTATAATATATAATATATCTTAT ATATTATAATATATAATATATATTATATATTATAATATATAATATAGTAT TATATTTTATATTTTATAATATATTATATTATATATTATATTTTATAATA TATATTATGTTATATATTATATTTTATAATATATAATATATTATATATTA TATTTTATAATATATAATATATTATATATTATAGAATATAATATATTATA TATTATTATATATTATAAAATATAATATATTATTATATATTATAAAATAT AATATATTATTATATATTATATTTTATAATTATTATATATAATATAATAT AATATATTATTATGTATTATATAATATTGTATATAATTATATACAATATT ATATATATCATTATATACATAATAATTATATATTCACTGGTTATATATAA AATCAGTGTATATATATTAATCACTGAATATACATAATGAGAAATTTAAT ATATATTGAATATATAATATATATATTTTATGGGTGTTTATATATAGTCC CATGAAATACATACATTCGGGGAGGAGCCAAGATGGCCGAATAGGAACAG CTCCGGTCTACAGCTCCCAGCGTGACCGACGCAGAAGACCGGTGATTTCT GCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACGG TGGGCGCAGGCCAGTGGGTGCGCGCACAGTGCGCGAGCCGAAGCAAGGCA TTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCCGAGTCA AAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCACCCGAA TATTGCGCTTTTCAGACCGGCTTAAAAAACGGCGCACCACGAGACTATAT CCCACACCTGGCTCTGAGGGTCCTACGCCCACGGAATCTCGCTGATTGCT AGCACAGCAGTCTGTGATCAAACTGCAAGGCGGCAGCGAGGCTGGGGGAG GGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGCCAGGAA GCTCGAACTGGGTGGAGCCCAACACAGCTCAAGGAGGCCTGCCTGCCTCT GTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGACAGCAGT AACCTCTGCAGACTTAAATGTCCCTGTCTGACAGCTTTGAAGGGAGCAGT GGTTCTCCCAGCATGCAGCTGGAGATCTGAGAACCGGCAGACTGCCTCTT CAAGTGGGTCCCTGACCCCTGACCCCAGAGCAGCCTAACTGGGAGGCACC CCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCAACAGAC CTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAAACAGAAAGG ACATCCACACCAAAAACCCATCTGTACA	T T	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	340	0.0029	-1827	c.17 others(20): Show c.174+8303_*174+10129del	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
ACSM2B_chr16_20531226_20581367	20559950	TCACTTTA others(1819): Show TCACTTTAGATTTATTTATATATTTATCTCTATCTACTTACTTTTTTTAA TTTTGTGGTAAAAATACACATAACATTTCCAGTTTTAACTATTTTTGAGT GTACAGTTCAGTGGCATTAAGTACATTCTCATTGTTATGCAACAATCACC ACCATCCATCTCCCGAAGTTTTTCATCATCCAAAACGAAAACTCTGTCCC CGTTACACAATCACCTGTCATCCCCTCTCCCATTAGGCCCTGATAAACAC CATTCTACTTTCCTACTCTATGAATTTGACTATTCTAGATACATGATATT GTCTGAATATTTGTCCTCTCCAAGTCTCATGTTGAAATGCAATCCCCAAT GTCAGAGGTGGGGCTTGGTAGGAGGTGATTGGATCATGGGGGTGGGACCC TCATGAATGGCTTAGCACCATCCCCTTGGTGATAAATGAGATCATAAGAT CTGGTTGTTTAAAAGTGAGTGGCACCTTCTCACTCTCTGTTTTGCTCCTC ATCTTGCCCTTTGTTGTGCCTGCTCTTTCTTCATCTTCCAACATTATTGT AAATTTCTTGAGGCCCCCATCAGAAGCAGATGCCAGCACACTTCCTGTAC ACTGTGCAGAACTTTGGGCCAATTAAATCTCTTTTCTTTGTAAGTTACCT AATCTCAGGTATTCCTTTACAGCAACACAAGAACAGTCCGATACAGAAAA TTGGTACCAGAAGTGGGATATTGCTATAAAGATACCTGAAAATGTAGAAC TAACTCTGGAACTTGGTCATGGGAAGAAATTGAAGAGTTTGGAAGGCTTA GAAGAGATAGAAAGATGAGGAAAAGTTTGGAACGTCTTAGGCACTGGTTA AATAGTTGTGAACAAAATGCTGATAGAATTATGGACAATGAAATGCAGGC TGACCAGATTTCAAATGGAAATAAGGAACTTTTCGGGAACTGAAGCAAAG GTCCTCCTTCCTATATTTTAGCAAAGAACTTGGCTGCATTGTGTTCATAG CCTAGTGATCTGTGGAAGTTTTAACGTAAGAGTAATGACTTAGGGAATCT GACAGAAGAAATTTTTAAGCAACAGAGCATTCAAGATTTGACCTGAATGT TTGACGAATAGATAATGTTGCATATACATAACAATGGAATATTATTTCAG CCTTAAAAAGGAAGGAAATTCTGACATATGTTACATGCATAAACCTTGAA GACATGCTAAGTGAAATTAGCCAGACACAAAAAACCAAATACTGTGTGAT TTCATTTATATAAGGTACTATATTAGGCTGCTCTTGCATTGTTATAAAGG AATATCTGACACTGGGTAATTTATAAAGAAAAAAGTTTAATTGGCTCACA GTTATGCAGGGTGTACAGGAAGCATGGTGCTGGCATCTGCTTCTGGTGAG GGCCTCAGGAAGATTACAGCCATGGAAGAAGGTGAGGGGGGAGCAGGTGC ATCACATGGCAAAAGCAGGAACAAGAGAGAGAGCGTGGGGAAGTGCCATG TATGTTAAAACAACAAGATCTCTCATGAACTCACTCATAACGAAGGGGAT GGTGCTAAGTCATTCGTGTGGGACCTGCCCGTATGATCCAAATGTCTTCC ACCAGGCCCTACCTCCAACTCTGTGGATTACATTTCAACATGAGATTTGG AGAAAACAAATATCCAAACTATGTCACTTTGCTCCTGCCCTTCCAATTCT CATGTCCTTCTCACATTGAAAAATACAATAATCTCTTTTTTTTTTGGTTG GATTTGCCTGATATTTCTTTTTTTATTACTATACTTTAAGTTTCAGGGTA CATGTGCACAACGTGCACGTTTGTCAC	T T	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03927.hp2 HG03490.hp2 HG03492.hp2 HG03927.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0008 a0009c0015t0008	a0009c0015t0008g0032 a0009c0015t0008g0329 a0009c0015t0008g0032 a0009c0015t0008g0329	3	388	0.0077	-1826	c.178 others(16): Show c.178-2329_178-504del	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	2/13			chr16	TogoVar
FAF1_chr1_50432028_50965267	50662751	GCAGCGGC others(1819): Show GCAGCGGCGGGATCTTGGCTCACTGCTGCTAGCGCCGCCTCCCGGGTTCA CGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCACCCA CTAGCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCAC CATTCACAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGCCTTGG CCTCCCGAAGTGCTGGGATTACAGGCGTAAGCCACCACCCAGCCATGAAT TTGTATCTTTAGTAAAAGGTCAAACCTGGATTTTACGATAAAAGACAATT CCTAAAGTGCTAAGAAAATGTTTATAGATGAGAAAAGCTAAACATATTTC ACAAATTAAAAAGAAGCTAAATTTTAGAAGCTTTCTGAAAAACACAAGTT TATAGAAACTGTGAAGTTGCAGGGATTATAACTGAAAAAAAAGGTTAATT ATTTTTCTACAACAGTGGTTCTTAAAGAGGGTGGCTGGACCAGGTATTAG TATCACCTGGAAACTATCAGAAATGCAAATTCATGGGCCCCACCACAGAC CTAGTGTATAGAACACTCTGAGTGCCCAGCAATCTCTGTTTTAATAAGCT CTTTAGATAACTCTTACCAAGATAAATTTTAAGAAGCATTGCTTTTTTTT AAATTTTAATTTCAATTTTTTTTTTTTTTTTTTGAGACAGAGTCCAGGCT GGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTT CAAGCGATTCTTCTGCCTCAGCCTCCCAACTACCTGGGACCACAGGCACA TGCCACCACACCCGGCTAATTTTTGTATTTTTTTAGTAGAGACAGGGTTT CACCGTATTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCA CCCTGGCCTCCCAAAGTGCTAGGATTACTGGCGTGAGCCACCGCGCCCGG CCAGAAGCACCGCTTTAGAATGTGCAAATAATATATAGGCTCTTCCAGAG AGCCATGCCTCTCAAGTTTACTGATACTAAAATTCTTTGAACTCTGCCTA AGGTGGCCAGTCACTTTTGAGAATAAATATAATTAATAATCATTTGTTAC AGAAATTCTAAAAATGTTGCAATTTCATTTGGATGATGTGATTTTATTAG CCTAAGAAATTAATGAGAGAAGATACTACCTCTTTACTACAGACTTCATT GCATTCTCAGTTTAATCTAAATTTCTGCTAATTGAAAATCTGTTAATCTT TTTTTTTTTTTTTTTTTAGACAGAGTCTCGCTCTGTCACCAGGCTGGAGT GTAGTGACGCGATCTTGGCTCACTGCAACTTCTGCCTCCGGGGTTCAAGC AATTCTCCTGCCTCAGCCTCCCGAGAAGCTGGGATTACAGGAATGTGCCA CCATGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGAGGTTTCACCATG TTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTCAGC TTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCAATCT TTAGTTTTTCTGTCTCAAGCTTAAGTGTGACTGCTTCCTGGTCATAATAC ATATTTGGAACTTGCAGTAAACCTGCAAACTCACAATAAATGACCTATTG GTCTCACTAAATAAACTTGGAAGATATCTATATATGTCAGATAAACTGAA GAAATGTCCCTAACCACTAGAGAACTATGTTTGAGCCATATAAAACAACT AAACAGAAGGCTGGGGGCGGTGGCTCATGCCTGTAATCCCAGCACGCTGG GAGGCCAAGGTGGGTGGATCACGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG03139.hp1 others(2): Show HG02109.hp2 HG02717.hp1 HG03139.hp1 HG03209.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0041 a0001c0001t0012 a0001c0001t0041	a0001c0001t0012g0002 a0001c0001t0012g0007 a0001c0001t0012g0011 others(2): Show a0001c0001t0012g0002 a0001c0001t0012g0007 a0001c0001t0012g0011 a0001c0001t0012g0012 a0001c0001t0041g0013	5	190	0.0263	-1826	c.658 others(17): Show c.658-9049_658-7224del	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	7/18			chr1	TogoVar
NXN_chr17_794310_984776	940884	AACACCTT others(1817): Show AACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAA CTCACATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAG CCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAG GGTGCAGCCATGAATTCACCAAACACCTCCCTGGATTTCCAGCGAACAAG ATTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGT GAACAAGATTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGAT TTACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTT CCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAA ACACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGCGCAGCCATGAAT TCACCACACACCTCCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGC CATGAATTCACCAAACACCTCCCTGGATTTACAGCGAACAAGATTCCAGG GCGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAGA TTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGATTTACAGTG AACAAGATTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGATT TACAGCGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTCC CTGGATTTACAGCGAACAAGATTCCAGGGCACAGCCATGAACTCACATCA CACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAATT CACCAAACACCTCCCTGGATTTACAGCGAACAAGATTCCAGGGTGCAGCC ATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGG TGCAGCCATGAATTCACCAAACACCTCCCTGGATTTACAGCGAACAAGAT TCCAGGGCGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGCGA ACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGATTT CCAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCACATCACACCTTCC TGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAAC ACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTC ACCAAACACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGCGCAGCCA TGAATTCACCACACACCTCCCTGGATTTACAGTGAACAAGATTCCAGGGT GCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAGATT CCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGATTTACAGTGAA CAAGATTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGATTTA CAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCACACACCTTCCT GGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACA CCTCCCTGGATTTACAGCGAACAAGATTCCAGGGCGCAGCCATGAACTCA CATCACACCTTCCTGGATTTACGGTGAACAAGATTCCAGGGTGCAGCCAT GAATTCACCAAACACCTTCCTGGATTTCCAGTGAACAAGATTCCAGGGTG CAGCCATGAACTCACATCACACCTTCCTGGATTTACAGCGAACAAGATTC CAGGGCGCAGCCATGAACTCACATC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG00642.hp2 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0070 a0001c0001t0003g0020 a0001c0001t0003g0070	2	242	0.0083	-1824	c.360 others(19): Show c.360+36611_360+38434del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
LRSAM1_chr9_127446510_127508499	127469920	GCGCCACT others(1815): Show GCGCCACTGCACTCCAGCCTGGGATACAGAGCAAGACTCCATCTCAAAAA AATAAAATAAAATGGCCAAAATTGAACTGGTGATACCAAGAATTAGCAAA GATGTGGAGCAACAGGAACTTCCATATACTGCAGGTGGGAATGTAAAGTG AAAATTACCTTAAAAATTATTCTCAATATCTACTCAAGCTGAACATTCAA ATATCCTATGGCCCATGAGTTCCATTCCTAGGTACATGCCTGTATTAGTC TGTTCTCACACCGCTATGAAGAAATTCCCAATTTCTATGAAGAAATTCTT TATAAAGAAAAGAAGTTTAATTGACTCACAGTTTCACATGGCCGGGAGGC CTCAGGAAACTTACAGTCATGGTGGAAGGCACCTCTTCACAGGGCAGCAG GAGAGAGAATTAGTGCCAAGTGAAGAGGGAAGCCCCTTATAAAACCATCA GATCTTGTGAGAACTCACCCACCACCATAAGAATAGCATGGGGGAACTGC TCCCATGATCTAATCACCTCCCACGAGTTCCCGCCCCCAACACGTGGGGA TTACAATTCAGAGATTGAGGTGGGGACACAGAGCCAGACCATATCAATGC CCAATGGAAATGCATATGAATAAATGCCAAAAGCCATGTGCAAAAATGTT CATAGCAGCACTATTTATGCCAGTCCAACCTGGAAACAGCTTTAATGTCC ATTAGGAGTAGAATGGATAACTAAACTGTTTTATACTCAATGTGTGGATA CCACACGGCAAGTGGAAAGAATGAGCCACTGCTCCTTTCAACAACCTGGA TGAGTCTCACAAACAATGTGGAGTGTGAGGAGCCAGACACAAAGGAATAT GTGCTCTTATCAGTCACCACAGAGCTTTGAACCAGCACTGGTTCCTGGTC ATGAGAGTGTGTTCACCTTTAAACATTCATCAAGCTCTGCATGAAGATTC TGTGCTCTCGGCCCAAAGGCAGTGAGTTATCTCAATTGATTGCTCACAGT CAGTTACAGATTTAAGGCCTTGTTCCACTCTTTCTCCTCTTCTCACCGCT GCACTTGACTAATCTTAAAAAAAGAGAGAGAAAGATTTTGTGCTCTTTTC TGTATGTATGTTATATTTTACTTTAAAAGAAAGTGGAGGGGGGTGGCTGC GATCATAGCCACCAGGCCACACATATGCAAATTAGAGTCTTCGAGCAACA GGTGATTCCAATATACACCCTGGCCAATGGCTGAGCTAGCTAGACAAAAG CCTTTATTTTCTTTAAAAAGATTTTGGGGCCGAACAAGGTGGCTCACGCC TGTAATCCCAACATTTTGGGAGGCCAAGGCGGGTGGATCGCTTGAGCCCA GGAGTTCAACATGGGCAACATGGCAAAACTTCATCTCTACAAAAAATGCA AAAATTAGCCCAGCTTGGTGGCACACCTGTAGTGCCAGCTGCTCGGGAGT CTTAGGTGGGAGGATTGCTTGAGCCTAAGAAGTGGAGGTTGCAGTGAGCC AAGATTGTGCCACTGCACTGCAGCCTGGGTGACAGAGAGAGACCTTATGT TATAAAAAAAAAAAAAAAAAAAAAAAAAGATTTTGGGCTGGGCGCGGTGG CTCACGCCTGTAATCCCAGCACTTTAGGAGGTCGAGGTGGGTGGATCACC TGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACGCCATCT TTACTAAAAATACAAAGACTAGCCAGGCGTGGTGATGCATGCCTGTAATC CCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCATGAGGCA GAGGCTGCAGTGAGCTGAGATCT	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	340	0.0029	-1822	c.619 others(17): Show c.619+2113_620-2037del	LRSAM1	ENSG00000148356.15	transcript	ENST00000300417.11	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
GNAL_chr18_11684264_11890685	11865090	TTCCCCCG others(1814): Show TTCCCCCGCCCCTAGACTCTCTCGGCACAGCCCTGGCTTGTCTCCTGTCC CCTGGCTTACCCATTTCAGTCGCCCTTCTCAGTGCCACGAAATGAATCTT CCTACGGCACGGCCTGGATCGTGCTGTTCCTCTGCTGAAGAAGGTTCGGG GCTCACTACTGCTTGTGCACCGTATGACCCAAGCCCTCTGCCTATGACCA GCCCCGTCCCCAGGCCTGCTTTGTCCCCTGCCACCTGCCTCACCAGGCTG GGCTGTTGTCAGGACCCTTCCAGTTCTCCCAGCTTTTCCTGCCGTAGCGC TTCTGTTCATCTTGTCCTCTGAGCCTCAGATGCCACCTGTGCTAAGCAAA CCCCACAAATCTATCAAAGCTTCCTTCAGGCCAGGCATAGTGATTCACGC CTGTAATCTCAGCACTTTGGGAGGCAAAGGCAGTAGGATTGCTTGAGACC GGGTGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACCAA AAAAAAAAAAAAAAAATTAGCCAAGCTTGATGGCATACACCTGTGGTCCT AGCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTAAGCCCAGGAATTCAA GGCTGCAGTGGGCCATGATTAGGCCATTTCACTCCAGCCTGGGTGACAGA GTAAGACCCTGTCTCTAAAAAAAAAAAAAAAAAAAAAGCATCCAAGCATC CCTCAAATCTCAGCCCATGGTGACCCCTTAGAATTCCCATTGCATATCTA CTATGCAGCCATTGATGGTATACTGCCCTTTACCTTGCCCAGTCACCCTC AGCATGTCTGACTCGACTCTAAGGGACCTCAAGGGTGAGGTCCCTTAAAG CAAGAGTTTCATGATCTCCAGTGTGTTCTGAGACTCCTGCAGTGCCCAGC GCCCTCCTCAGTGCACAGGTGACAGACACCTACTTCCAGATTTCCCAAGA ACCCTTCACATGGCCACTGTCAGGCTGGATAAAAGCCAGCTACATCTCTC TGCTGGGAGGCGCACAGTGCAGTATGGAGTTGGCGTGACTTGTGGTTTTG CCCACATCATAACCAAGTCCCTGGCATAGTGGAATTACTAACAATGAAGC TGTATCTCACATCTGTGATTTTGTTTGAAAGGATTCTGCTCATCAGCTCA TCCATTTTCATCAAGTATCTCAGCGTGCCCCACGTGTGCTAATGTAAAGC GTACGGATTAAATTCTAATAGGATCAGCAACATACCCGCCCAGGACAAAA AAATCTAGCCCGTGTGGTCCTAAGGCACATGCATTATGTTTAGGGAGGGG AGAAATCTCAGAGGCAGGGAAGCCTGCGAAGGTTGGAAACATCCAGCAGA ATCTGGGTAGGTAGAAACTCTCCCAGGGAGAAACGCCTTATGCGCTGAGC AGGGGCTGTGAGAAGAGGGGCCTGGGCCGGCCTGATGAAGTGCAGGGTGC AGCTGAGAAACTCTGAGAGAACTGGCTGAGGTCGCCTTGGCTGAGCGAGA CCGGGAAGCAGCTCGGGCTGGGCAGAGCAGCCTGCACTGAATCCAGGCGT GATCAAGACCCAGTGCAGGTCACCAGGCAGAGGTGGCTAGAGATAAGATG CATGTAGTGTAGACAGATCAGCAAGGAGCCTTTCTCAATTCTCCATGGGA GGGAAGACACAGTGTCCTGAGAGCTGGAACAAATCACAGGAAGGATCTGC CCTGGGCAGTGACTTAGCCTGTACTCAGAGAGGCCTGAGTGTCTGAGCAG GTAACCTCTAGCATTACTGAGCTAGTAACCACTGGATTTATTAAGGACCT ACTGTGGGACCTCAGACACTGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp1 HG02630.hp1 others(17): Show HG01891.hp1 HG02451.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0003 a0001c0001t0012 a0001c0001t0022 others(14): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0022 a0001c0001t0029 a0001c0001t0031 a0001c0001t0040 a0001c0001t0042 a0001c0001t0105 a0001c0001t0125 a0001c0001t0126 a0001c0001t0154 a0001c0001t0157 a0001c0001t0182 a0002c0002t0013 a0002c0002t0066 a0004c0004t0053 a0004c0004t0065	a0001c0001t0003g0017 a0001c0001t0012g0244 a0001c0001t0012g0245 others(17): Show a0001c0001t0003g0017 a0001c0001t0012g0244 a0001c0001t0012g0245 a0001c0001t0022g0059 a0001c0001t0022g0060 a0001c0001t0029g0009 a0001c0001t0029g0024 a0001c0001t0031g0073 a0001c0001t0040g0065 a0001c0001t0042g0248 a0001c0001t0105g0126 a0001c0001t0125g0106 a0001c0001t0126g0144 a0001c0001t0154g0092 a0001c0001t0157g0035 a0001c0001t0182g0075 a0002c0002t0013g0087 a0002c0002t0066g0057 a0004c0004t0053g0002 a0004c0004t0065g0006	20	248	0.0807	-1821	c.851 others(15): Show c.851+485_852-257del	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	7/11			chr18	TogoVar
GNAL_chr18_11747085_11890685	11865090	TTCCCCCG others(1814): Show TTCCCCCGCCCCTAGACTCTCTCGGCACAGCCCTGGCTTGTCTCCTGTCC CCTGGCTTACCCATTTCAGTCGCCCTTCTCAGTGCCACGAAATGAATCTT CCTACGGCACGGCCTGGATCGTGCTGTTCCTCTGCTGAAGAAGGTTCGGG GCTCACTACTGCTTGTGCACCGTATGACCCAAGCCCTCTGCCTATGACCA GCCCCGTCCCCAGGCCTGCTTTGTCCCCTGCCACCTGCCTCACCAGGCTG GGCTGTTGTCAGGACCCTTCCAGTTCTCCCAGCTTTTCCTGCCGTAGCGC TTCTGTTCATCTTGTCCTCTGAGCCTCAGATGCCACCTGTGCTAAGCAAA CCCCACAAATCTATCAAAGCTTCCTTCAGGCCAGGCATAGTGATTCACGC CTGTAATCTCAGCACTTTGGGAGGCAAAGGCAGTAGGATTGCTTGAGACC GGGTGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACCAA AAAAAAAAAAAAAAAATTAGCCAAGCTTGATGGCATACACCTGTGGTCCT AGCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTAAGCCCAGGAATTCAA GGCTGCAGTGGGCCATGATTAGGCCATTTCACTCCAGCCTGGGTGACAGA GTAAGACCCTGTCTCTAAAAAAAAAAAAAAAAAAAAAGCATCCAAGCATC CCTCAAATCTCAGCCCATGGTGACCCCTTAGAATTCCCATTGCATATCTA CTATGCAGCCATTGATGGTATACTGCCCTTTACCTTGCCCAGTCACCCTC AGCATGTCTGACTCGACTCTAAGGGACCTCAAGGGTGAGGTCCCTTAAAG CAAGAGTTTCATGATCTCCAGTGTGTTCTGAGACTCCTGCAGTGCCCAGC GCCCTCCTCAGTGCACAGGTGACAGACACCTACTTCCAGATTTCCCAAGA ACCCTTCACATGGCCACTGTCAGGCTGGATAAAAGCCAGCTACATCTCTC TGCTGGGAGGCGCACAGTGCAGTATGGAGTTGGCGTGACTTGTGGTTTTG CCCACATCATAACCAAGTCCCTGGCATAGTGGAATTACTAACAATGAAGC TGTATCTCACATCTGTGATTTTGTTTGAAAGGATTCTGCTCATCAGCTCA TCCATTTTCATCAAGTATCTCAGCGTGCCCCACGTGTGCTAATGTAAAGC GTACGGATTAAATTCTAATAGGATCAGCAACATACCCGCCCAGGACAAAA AAATCTAGCCCGTGTGGTCCTAAGGCACATGCATTATGTTTAGGGAGGGG AGAAATCTCAGAGGCAGGGAAGCCTGCGAAGGTTGGAAACATCCAGCAGA ATCTGGGTAGGTAGAAACTCTCCCAGGGAGAAACGCCTTATGCGCTGAGC AGGGGCTGTGAGAAGAGGGGCCTGGGCCGGCCTGATGAAGTGCAGGGTGC AGCTGAGAAACTCTGAGAGAACTGGCTGAGGTCGCCTTGGCTGAGCGAGA CCGGGAAGCAGCTCGGGCTGGGCAGAGCAGCCTGCACTGAATCCAGGCGT GATCAAGACCCAGTGCAGGTCACCAGGCAGAGGTGGCTAGAGATAAGATG CATGTAGTGTAGACAGATCAGCAAGGAGCCTTTCTCAATTCTCCATGGGA GGGAAGACACAGTGTCCTGAGAGCTGGAACAAATCACAGGAAGGATCTGC CCTGGGCAGTGACTTAGCCTGTACTCAGAGAGGCCTGAGTGTCTGAGCAG GTAACCTCTAGCATTACTGAGCTAGTAACCACTGGATTTATTAAGGACCT ACTGTGGGACCTCAGACACTGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG02630.hp1 others(17): Show HG01891.hp2 HG02451.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0009 a0001c0001t0020 others(14): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0020 a0001c0001t0034 a0001c0001t0035 a0001c0001t0046 a0001c0001t0086 a0001c0001t0087 a0001c0001t0092 a0001c0001t0094 a0001c0001t0114 a0001c0001t0120 a0001c0001t0121 a0001c0001t0159 a0001c0001t0160 a0001c0001t0161 a0001c0003t0088	a0001c0001t0003g0263 a0001c0001t0009g0224 a0001c0001t0020g0070 others(17): Show a0001c0001t0003g0263 a0001c0001t0009g0224 a0001c0001t0020g0070 a0001c0001t0020g0254 a0001c0001t0034g0280 a0001c0001t0034g0281 a0001c0001t0035g0075 a0001c0001t0046g0256 a0001c0001t0046g0257 a0001c0001t0086g0269 a0001c0001t0087g0186 a0001c0001t0092g0227 a0001c0001t0094g0226 a0001c0001t0114g0265 a0001c0001t0120g0204 a0001c0001t0121g0267 a0001c0001t0159g0229 a0001c0001t0160g0061 a0001c0001t0161g0282 a0001c0003t0088g0065	20	284	0.0704	-1821	c.620 others(15): Show c.620+485_621-257del	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	7/11			chr18	TogoVar
PCGF3_chr4_700832_775089	744702	GGGGGTCG others(1814): Show GGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02647.hp2 HG02717.hp1 others(1): Show HG00639.hp2 HG02647.hp2 HG02717.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0064 a0001c0004t0020 a0001c0001t0003 a0001c0001t0064 a0001c0004t0020	a0001c0001t0003g0308 a0001c0001t0064g0028 a0001c0004t0020g0251 others(1): Show a0001c0001t0003g0308 a0001c0001t0064g0028 a0001c0004t0020g0251 a0001c0004t0020g0320	4	366	0.0109	-1821	c.462 others(15): Show c.462+36_462+1856del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744724	TTCGCCGT others(1814): Show TTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGG TCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGTCGCTGCAGTGTTAGTGC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02896.hp1 HG03540.hp1 HG02559.hp1 HG02896.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0259 a0001c0001t0012g0260 a0001c0001t0012g0290 a0001c0001t0004g0259 a0001c0001t0012g0260 a0001c0001t0012g0290	3	366	0.0082	-1821	c.462 others(15): Show c.462+93_462+1913del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
ERC1_chr12_986223_1500931	1085899	GTTGTTGT others(1813): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGC AATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGT GCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATT GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTATTGTTGTTG TTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTA TTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATG CCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACA GGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAA AGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATT ATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGG CCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAA TATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGC TGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGT TGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCAT TATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGC CTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGA TTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTG TTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTA TTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATG CCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02723.hp1 HG02818.hp1 others(3): Show HG01517.hp1 HG02723.hp1 HG02818.hp1 HG03130.hp2 HG03209.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0098 a0002c0002t0101 others(3): Show a0001c0001t0008 a0002c0002t0098 a0002c0002t0101 a0002c0002t0102 a0002c0002t0104 a0002c0002t0128	a0001c0001t0008g0086 a0002c0002t0098g0045 a0002c0002t0101g0056 others(3): Show a0001c0001t0008g0086 a0002c0002t0098g0045 a0002c0002t0101g0056 a0002c0002t0102g0055 a0002c0002t0104g0043 a0002c0002t0128g0054	6	162	0.0370	-1820	c.108 others(19): Show c.1086+2329_1086+4148del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
BCL2L14_chr12_12065939_12104695	12099893	CGGTATAA others(1811): Show CGGTATAAGGTTTTTTAGAAACATGCTCAATAGTAAGTGTTTAAGACACA AAACAATTTAAAAAATACTATCAAATTATAAGGTCTTACAAATTTCTGGA TATGTAGTACCCAGCATATGGCCTGATGTAAAACTGGTGCTTAATAAAAC TTTGAAGAACAAACAAGTCAGTAAGTCAGACATACTCTCAGGTTCAAGGG AAAACTGGATCTATCTATTATCAAATGCTTCACTAGCCTACCCATCTCAA TAAAATGAGTTATTCTCTTTTGTTTTCTTCTCCCACATGAAAGTCATCAC TGTTAGGGATAGAGGAGTCTCCATTTTTTGTTTGTTTGTTTGTTTTGTTT TGTTTTGAGACAGACTCTCGCTCTGTCACCCAGGCTGCAGTGCAGTGGCG TGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCT GTCTCAGCCTCCCAGGTAGCTGAGATTACAGGCACCCGCCACCATGCCCG GCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTA GCCAGGATGGTCTAGATCTCCTGACCTCGTGATCTGCCCGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCAGGAGTCT CCTTTTAGACATGGAGACACTGAAGACCACCTCTTCCTCCATCCACTCTG ATCTCGCCATTCCAAACTTTTTGCAGTTCCCCAAAGGTATTATGCAACCT GGCACCTCTGAGCCTTCATAACAGTATCCTCTCTACTTGGAGTGTTCTTG CATGATGGCTTCCTTTCCCCCTGTTTCCACTAAAACAACTAACTCTAGCT CATCTTTCCAAATTTCCTCAGTTTCCTCCAGGACTCATTTGCTAACCCTC CCTTGGCCATCATGTGGCTATATTTGGATGCCTTTTCTCATAAGATGCTC CAAATCACCCTGCATGTAGACATTATGCTTAATATATTGCACCGTAAGAT TTGGTTTACCCAGTCTTTCTCAGTGGATTGTAAAGTCGTTTGCAAACAGG TACTATGCCTAATTTAACTTTATATATCTAGTGCCTGGCATAGTTTTGGC ACACAGTTGCAGAACCATACCCTCGTCTGACTGATACAGCTTGTAAATCA GTATGACTGGAATATGCCCTAAGATATGTGTACTTACAACAAGCTCTCCA TGTGTTTCCAATATCATCTATGGCTTGTGGTCAAGATGAAGTAACTAACG AGATTTAATCTCCTGCTTGAAACAACTAAAAAAAAAAAAAGACACTATAG ATGAGAATGATTTTCAAGGCATTGGACATTAGGTAATTTTTTTTTTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGTCTGGCTAGGAGTCTCCTTTTAGAGAACTG GTCCCTGAGAGATGAGACTCTAAGTGAGCCCTATGTTTGCCCTAGAGTAC TGCATGCAAAGAGTTTCTAGGTCATGCTGGAGAGAGGGGAACCCACGCAG AGTTCACCAGCTCCCTGAGTAGAGAGGATAGAGCTAGGAGTCCAGAAAGA TCAGAGCAGCTGAAGTTTGCAAGTCTGATAAAGGATGAAAGAGAGAGGCA CACAAAGCTCCAGAGACCTGCAGATATTTCCCCTTAGGTATTCAGATGAA TACTGATCAAAACATGTGCATGAAGAAATTACCCAAGGCATGGGGAAGAA CCACCTGAAAATATTAAAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG01167.hp1 others(30): Show HG00323.hp1 HG00642.hp2 HG01167.hp1 HG01175.hp2 HG01256.hp1 HG01258.hp2 HG01981.hp2 HG02074.hp1 HG02572.hp2 HG02717.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18955.hp2 NA18956.hp2 NA18965.hp1 NA18972.hp1 NA18978.hp1 NA18981.hp1 NA18982.hp1 NA18989.hp1 NA18991.hp2 NA18992.hp2 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19011.hp1 NA19043.hp1 NA19066.hp1 NA19078.hp2 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0007t0001	a0001c0001t0001g0271 a0001c0002t0001g0006 a0001c0002t0001g0014 others(24): Show a0001c0001t0001g0271 a0001c0002t0001g0006 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0078 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0100 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0113 a0001c0002t0001g0138 a0001c0002t0001g0166 a0001c0002t0001g0239 a0001c0002t0001g0241 a0001c0002t0001g0248 a0001c0002t0001g0266 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0323 a0001c0002t0004g0208 a0001c0002t0004g0305 a0001c0003t0001g0133 a0001c0007t0001g0196	33	454	0.0727	-1818	c.90 others(10): Show c.906_*2723del	BCL2L14	ENSG00000121380.12	transcript	ENST00000308721.9	protein_coding		199		chr12	TogoVar
SERHL2_chr22_42548956_42579382	42571529	GATTCTCC others(1811): Show GATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA CCAGGCCTGGCTTATTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATG TTGGCCAGGCTGCTCTCCATCTCCTGACCTCATGATCCGCCCGCCTCGGC CTCCCAGTGTTGGGATTACAGGCGTGAGCCACCGTGCGTGGCCCACCATA GACGATTTTTAAGCCATAAAAAGAAACGAAGCACTGACACGGGCTCCAGC ATGGATGAGCCTTTAAAACATCGCGCTAAGTGGACGAATTCAGACACAAC CGTCTACGTGTTGTATGGCTGCATTCACGTTCAAGTCAAGTCCAAATAGG GCACACTGCAGAGACAAAGCCAGGTCATGGTTGCTCAGGACCGGAAGCCT GTTGGGGGCGGGGGGCGGGGGGTGGGGTGGGGTGTGTGTGTGTCCGCGTA AGCTCAGAGGTTCGCGATTTCTTTGGGGGCGATGAAAATGTCCTGTAATT GTGACGATGGTCTCACAACTCAATGTATTAAAAACCACAGAATTGTAGAC TATCAACGGGAGGATTGTGAAGACATAAATTCTCTCTCAGAGCAAGTATG GGCTCCAGCGCCTGTTCAGATCCCAGCTCTGCTTTTCAGGGCTGACTGTG ACCAAGTCCTGAACTCCCTGTGCCCCAGAAAGGCTGTGCCTTCAGCATTC ACTTGTGCCTGGCTTGTGCCAGCTGAGCATGAGCTGAGATTAACTGAGCC TCAAATCCAACCCAGGGTCAAGGGACCCAGCTGTGGGAGTTGGGGTAGCC CAGGCTTTGGTTTCTCCTCAGAGGCCTGAACCCAGGGCAGGATGGGGGCA CCGCTGGGAGGCGGTTCTAAGATGAACCCCAACAACCCCCAACTCCTCAC TTTCCAGAGCAGTCCACGGATATTTTGATTCAAGACAGAATTACTCTGAG AAGGAGTCCCTGTCGTTCATGATAGACACGATGAAATCCACCCTCAAAGA GGTAAGACGGGGCTCAGGCAGCTGGTGTCCAGCCACTGTCGCCCACTCTG GTCCCACCTCACCCATCTCTTCTCATGCACTGGGAAGACCCTGGGTCTGC CCCCAGGCCCAACAAGTGACCACCAGGATCTATCAGGCCTCATGCTCCAC TGTGGTCAGTCCCTAGAGGCCTAGGGACACATGTAATCAGAATTAAGGAA ACAGAGACCTTTGGTGGGGAACCCCTGCCAGGTTCAAGCTACTCTCGTGC CTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGC TAATTTTTATATTTTATATTTTTAAGAGATGGGGTTTCACCATGTTGGCC AGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCC CGAAGTGCTGGTTTTGTAGATGGGAGCCACCATACCCGGCCTAGTCGCAC ATTTTACAGGCTCCCAAACCACAGCAGAATACCCGACTGCCTCATCCCTC TGCACCCATCATGACAGTGGGCGTGCTGGCTGTAGGCAGAGGTGGCTTTT CCCCCAGGTTCCTGGGAGCACGTGGTGTTTTATGGTCACCTACCCGGGAA CACTGACCCTGGGGCCTCTGCAGGTTTCTTGGCATTGTCACAAAGGGAAG AAGCCCACCTGTGGCTGGCCGGCTGCCAGGTCAGAGCCAAGGCAGGCAAG GCCTTCCTGTCTGGCTTTTTTTTTTTTTTTTTTGAGATGGAGTGTCGCTC TGTTGCCCAGGCTGGAGGGCAGTGGCCCGATCTCGGCTCACTCCAAGTTC CACCTCCCGGGTTCATGCC	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01109.hp2 HG01109.hp2	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0001 a0015c0022t0001	a0015c0022t0001g0198 a0015c0022t0001g0198	1	432	0.0023	-1818	c.731 others(15): Show c.731+379_826-537del	SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TIGIT_chr3_114289028_114315288	114291658	CAGATCCC others(1811): Show CAGATCCCTGCTATGCCACGAGGGCTGCTGACTGGCCTTAAAAGCTCAGG GTGGCCCGGGGAGCTCTCAGAGCAGGCCTGCTTCTCACAGCTGAGCCGCT CAGTGCTGGGGGCTGGTGTTGAGTGGGTGGGAACCAGCCAGGTTCCCCGT GGAGTCTGTGCAGGAGGCTCTGGAGGGTCTGGGGTAGATTCCCTGGGGAG AGACTTCTGTCATTTGCTTTCCTCCAAGGCAGCCTCAGGGTCTAGCTGGC AAGTGGTCACTTTCCTGCAGAAACATGCTATCCTCCTGTTCTATCAGATA AGGAGGGCAGAATGAAGAGGTTGGGTGGAACCCTGGCCTTGGAGTCTGGA GACTAGGATTTTACTCTTGACAAAGCACATTATATAGATAGGGATATTGT CCTCCAATTTTCCTTTCACTTCCTTAATTAATATTGTTATCAATACTACT GTTGATGTATTGAACTCCTGCCATCTTCCAGGCACTGTGCTGAACACTTC ACCAAACACTAGAGAATTAAATCCTCACAACCCTATGAAAGAGGTACTCT TATTCCTATATGCACATGGGGAAACTGAGCCTTCAGGAGGTTGAGAAAGT TTTCCAAGGTCACCAAACAGGATGACTTTGGACCCAGTCTGTTAATCATC CCCCTCTAGAGCACCATTGATCAAAATGGACTTGACCATATTCCTCTTTG GACTGGTTACTTAGCAAAAAACAGAAAAATTATTTAACAATTGTTTAAAA CCACCTCTAAGTTTCTCTGGATATCTCATTATATAAGAGAGGTCTCACCT CTTTGGCTCCCACCCAGCTCAACTATGGAAACACAGGCTGTAAATTTTTA TAGCCCAAATCCTAGTGTCCACCACTTTCTGTGCTCTAGTCCCACTAGCT GCTCTTGGCCCTGCCACTCCTGGCTCCCCGGCCTTAGTGAGTTTGGGAAA CATCCCTCCAGTTCAACCTTGGCACCTTCCCTTGGACACACATTAGGTAT TATTTCTCCTTCAGCTGAAGGCTTTGTAGCTATTGAAAGGCAAGGCATCT CTTGATGTGAGCCTTGAAGGACAGGTTGCTTTGGGTAGGCAGAGAGAAGC TGGTAAGGCGTATATTGTCTAAGGGTCTGGAGGTGGGGTATAAGGGGTAT ACAAGTCATAGAGTTGGGGATAGGCAGAACCCAGAGAGGGGAGAAAACTG GCCTGAGATAGAAGACCTTGCAAGGGAGAAGGAGGGTAGGAGCCTGGATG GTGTGAAATGCTAGAGGTGCATGGCTGGAATGGAGGGGGTGGGGCACCAG GCTTCAGATGCTTCTGGGTGCAGATGCAGATTTTCAGGATGTACAACATG GAGCATCCCCAAGGCAACTGTGTTGAGAGCCTGCGAGGCAGGTGAATGTG GATCTTCTACCCCCTCTCCTGACTGAGTTCACCAAGGAACAAGCTTTGTA AACTATTTGAGGGTAGGGGCTGTGATTATTTACTCTCATATCCTCAGAGC CTGGTGTTGAGGTTGGTGCTTTGTAGGCACCCAGGGACTTTCAAATGAAT GAAGGGAGGGAGGGAGGAAAGAAGGATGGGTCCATAGTAGGACCTGGTGA TGGGCTGGGAGCTCCAGGCAAATGTCAACCAATCCCTCTCCTGGGTCAGC TCCCAGGGGCTCACCCTTCTTTGCATTTCCAGCTCTCATGAGGTCATTGT GCACAGGAAAGCTCTCTCCTCTAATCTCCTCTGATCCTACTGCACCAGAG AAATCAAGCCAGAATTCAATAAAGTCTCAGTCCAGATAAACAAGACAAAA GAAATAAGATTCGAGTAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0261 a0003c0004t0001g0261	1	424	0.0024	-1818	c.-24 others(10): Show c.-2403_-586del	TIGIT	ENSG00000181847.12	transcript	ENST00000383671.8	protein_coding		2369		chr3	TogoVar
GALNT9_chr12_132191372_132334589	132231725	CGTGGAGT others(1810): Show CGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGGGACAGCGTGG AGCCCCTAGTGCTACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAG TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACT CGATGGGGTGACAGGGACAGCGTGGAGCCCCTAGTGCTACACACTCGATG GGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGG GCGACAGAGGAGACAGTGTGGAGTCCCTAGTGCCACACACTCGATGGGGC GACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGA CAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGTGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGTGTGGAGTCCCTACTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAG TGTGGAGTCCCTACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTG GAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT CCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCT AGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCCTA CTGCCACACACTCCATGGGGCGACAGGAGACAGCGTGGAGCCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTACTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGAT GGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGG GGTGACAGAGGAGACAGT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp1 HG02723.hp2 others(1): Show HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0019 a0001c0006 a0001c0019	a0001c0006t0001 a0001c0019t0003 a0001c0006t0001 a0001c0019t0003	a0001c0006t0001g0073 a0001c0006t0001g0078 a0001c0006t0001g0142 others(1): Show a0001c0006t0001g0073 a0001c0006t0001g0078 a0001c0006t0001g0142 a0001c0019t0003g0077	4	183	0.0219	-1817	c.107 others(21): Show c.1077+14368_1077+16184del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
PSG5_chr19_43162743_43191536	43163021	TAATTATG others(1810): Show TAATTATGGGAATAGACAAAGGTGCCACCCTGGCCATCCAGAGTGGGGAG GTATTTTCCAGTCAGGGTCCAGGCAGGCCAGCTGGAGATGAAGCTGATTA GTGGGGAAGCTTAACTTCCAGGAGTGGAAGAATTTAGGAGGAGTAAACAG AATGCACAACATTCTGTAAACATGCCTTTACCCAACAGTAGGAATACTCA GAGTGGGTGTGTCTTCCGTGGCAATCATTATCTCCTGGGAATCTAAGAAT GTGTCCTAGAGTCAAATGGCTTTGATGTAAGCCAAACCCAGAAATGGACT TCAGGGCTGCCTGGCACATAGCATTCATTCATCTTGAAAAAGGAAAGCAT TCATCTTGCTAAAGGAATCCCCTCTTCTGGCCCAGGCCATTATTTTTGTT TTTGTACTATCCTAATTTTTAAGATGTAAGGAGAAAGACCGAAGAATAAA ATAATGAGGTACATGTATGAAATAACAGGGTAGAATTGAGACTGGTACGT GTAAGTTAAGAGAAATTGTGTATAAATTTTGTGTGAACAGAAAAAGGATT TCTTGTTGCAAACAGACCTCTCCATATAAATAATACCCATTGCCTTGAGT GGATAGCAGACGGCATCACAAGAATATTCCAGCAGAGTCATGAGAGAATG GGTAGTGTGGCTTCTTTAATTGGCAGGTTAGACTGAGTAAGTTACTGAAG AGAAAGGAGTTGAAGGAGAAGATGGGTGAGGGCAAGAAAAATGGGAAGGT GAAAGGAAAGGACTGAAAGGAATGTTTACCAAGGGCTCATCAGGTACCAG GCTCTGTGACTAATGTCTCACACATGTTAATTTACTCTTCCACTGTCATT TTCTGATGCAGTAAGAGTCAGCCTTACACTGCAGAAGAGGAAAGAGGCTG AGGGAGGTCAAATGAGTGGCCCAGGGTCATCCAGCCACTTCATAGCAGAG CTAGTGTGTTTCACTGTGGTTTGTGCAGACAGAAAAGTGAGACATGGAAG GAAGGCAAAACATTTTTGCTGTGGGTGATGTTTATGAAAGTGACCTGTAT GAGGCAGAATAATGGCCTCTTAAAAATGTCCACATCCGGGCCAGGCGCGG TGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGAAGGGCAGATC ACGAGGTCACCAGTTCGAGATCAGCCTGACCAACATGGTGAAACCCCGTT TCTACTAAAATGCAAAAACTAGCTGGGCGTGGTGTCGGGTGCCTGTAATG CCAGCTACTTGGGAGGCTGAGGCAGGAGAATCATTGAACCTGCGAGGCTG AGATTGTAGCGAGCCAAGATTGTGCCACTGCACTCCAGCTGGGGCAACAT GAGTGAAACTCTGTCTCAAAAAAAAAAAAAATCCACATCCTAACTGTTGG AACACATGCCTTTACTTTTCTTGGCAAAAACACTGTTCAAAGGTGATGAA GTTGAGTATCTTGAGATGGAAACCTTATTCTGGCTTATCTGTGTGGCTCC CAGTGTCATCATAAGGGTCCTCTTAGTGAAAGAGAAAGGCAGGAGGGTCA GGGTGAGAATGATGCAGCCTGAGAGACTCCACTGGCCATTGCTTGCTGTG AACATGTGTGATAAGACAAAATTACAACGAATTTAGTAATAGATGTAATT GGCTTTTATTTGTGATTTATGATTTGAGGCAGCTCTCCCTCTACAGATGC CTCAGCATCCCAAGTAGCTGGGACTATATTGCTGGATCTGGCCAGCAGCC TGCAATGCAACAGGGCTCTTTCTTTGTTCCCAGGCAGATCGGCAGGTTGA GAAATAAAAGACACAAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0003 a0010c0018t0003	a0010c0018t0003g0103 a0010c0018t0003g0103	1	430	0.0023	-1817	c.34 others(11): Show c.3406_*5222del	PSG5	ENSG00000204941.14	transcript	ENST00000342951.11	protein_coding		4721		chr19	TogoVar
RAD21L1_chr20_1221044_1260876	1258454	TAACTGAT others(1809): Show TAACTGATTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCT GTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTAATACAAA CACATAAAGCTCTGTTTCCTTCTAGGTAACTGGTTTGGGATCTTCCCTCT TTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTG GGATCTTCCCTCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTA GGTAACTGATTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCT CTGTTTCCTTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATATA AACACATAAAGCTCTGCTTCTTGGTAACTGATTTGGTATCTTCCCTCTTT TCTAATATAAACACATAAAGCTCTTGTTTCCTTCTTGGTAACTGGTTTGA GATCTTCCCTCTTTTATAATATAAACACATAAAGCTCTGTTTCCTTCTAG GTAACTGATTTGGGATCATCCCTCTTTTCTAATATAAACACATAAAGCTC TGTTTCCTTCTTGGTAACTGATTTGGGATCTTCCCTCTTTTCTAATATAA ACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTC TTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTT GGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCT AGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGC TCTGCTTCTTGGTAACTGATTTGGTATCTTCCCTCTTTTCTAATATAAAC ACATAAAGCTCTGTTTCCTTCTTGGTAACTGGTTTGAGATCTTCCCTCTT TTATAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGG GATCATCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTTG GTAACTGATTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTC TGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTAATATAA ACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTC TTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTT GAGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCT AGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGC TCTGTTTCCTTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATAT AAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGGTTTGAGATCTTCCC TCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGGT TTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTT CTAGGTAACTGATTTGGGATCTTCCCTCTTTTCTAGTATAAACACATAAA GCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCGCTCTTTTCTAAT ATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTC CCTCTTTTCTAATATAAACACATAAAGCTCTGCTTCTTGGTAACTGATTT GGTATCTTCCCTCTTTTCTAATAGAAACACATAAAGCTCTGTTTCCTTCT AGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGC TCTGTTTCCTTCTAGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02630.hp1 HG02257.hp2 HG02630.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0004 a0008c0009t0004	a0008c0009t0004g0050 a0008c0009t0004g0051 a0008c0009t0004g0050 a0008c0009t0004g0051	2	364	0.0055	-1816	c.39 others(11): Show c.3998_*5813del	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		2579		chr20	TogoVar
IFIH1_chr2_162262074_162323684	162321869	GAAAAATT others(1808): Show GAAAAATTTAGTTACATATATATATATATATATATATATATATATATATA TATATATATATATATACACACATACATATAAACACTATATAATAGCTAGC CATTTAACTGAGACTTTAAGCAAGACTTTCAGCCATTTAACTGAAACTGA TAGGCTGATTTAGCAGGAAAGTTTATTAAAAGGATACTGTCGTAGCTTTT TATTTCAAAAATAGTAGTAAGCCTAAAATAGAAAAAAAATTATGGCTAAG TTCACTAAATCTTGATAATAATTTCCTAATCACTTTCACCAATTCAATTA AAATTCTGGTTTTTAAGTTTTCACATATAAAAACTTTTCTACATAGCAGT TTTGGCAAAAAATGAAAGTCACGTATCAATAGATAAGTTTTGGAACATTC ATTTTTCAAGTACTCCTTCCATAGCTTAAAGTCTTTTCAAAAACAGTTAC CTGCAAATGTTTTTGTGAAAAACAGTACTTTTACCTCAAAGGCTAGATTG TAATTGTTTTATTTTACTTTATTTATTTATTTATTTATTTATTTATTTAT TATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTGGTTA CATATGTATACATGTGTCATGCTGGTGCGCTGCACCCACTAACTCGTCAT CTAGCATTAGGTATATCTACCAATGCTATCCCTCCCCCCTCCCCCCACCC CACAACAGTCCCCAGAGTGTGATGTTCTCCTTCCTGTGTCCATGTGTTCG CATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTT GTTCTTGCGATAGTTTACTGAGAATGATGATTTCCAATTTCATCCATGTC CCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCAT GGTGTATGTGTGCCACATTTTCTTAATCCAGTCTATCACTGTTGGACATT TGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAATGCCACAATAAACATA CATGTGCATGTGTCTTTATAGCAGCAAGATTTATAGTCCTTTGAGTATAT ACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCC TGAGGAATCACCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCC CACCAACAGTGCAAAAGTGTTCCTATTTCTCCACATCCTCTCCATCACCT GTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGGT ATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGGTGAG CATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGACAAGTG TCTGTTCATGTCCTTCACCCACTTTTTGATGGGGTTGTTTGTTTTTTTCT TGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCG GATGAGTAGGTTGCGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCAC TCTAATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGAT ACCGTTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGAC ATGAAGTCCTTGCCCATGCGTATGTCCTGAATGGTAATGCCTAGGTTTTC TTCTAGGGTTTTTATGGTTTTAGGTCTAACGTTTAAGTCTTTAATCCATC TTGAATTGATTTTTGTATAAGGTGTAAGGAAGGAACCCAGTTTCAGCTTT CTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATA CTTTCCCCATTGCTTG	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19043.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0016 a0001c0008t0002g0016	2	220	0.0091	-1815	c.-53 others(11): Show c.-5377_-3563del	IFIH1	ENSG00000115267.10	transcript	ENST00000649979.2	protein_coding		3186		chr2	TogoVar
URI1_chr19_29937239_30021612	29988192	AGCTCTTT others(1808): Show AGCTCTTTTATTCACATGGTTTTATAATTTATACCTGAAGAAAATACTTA GGTATATTGTTGTACTTCACATTTATTAAGAAAAGGTACTTTATTTTTCT TAAGGCAGAGGAAATATAACCAGTTAAACACATAGTCATCTATGTCATGG TTGATTGGGGTAATTGGGGAAGGTCTGAGTTACAACACGGGTCATGATTT GTTTAGCCAGCACCACAGTCAGGACACGGAATAGGATACAAGATACTGCT CTCAGGACTCAGCTCCTATCAAAACCTCCCTCACACTGCCCCTTGGTGGT CACACCCTACGGCTGCCTACTGCTGAAGGATTGACGACTTCACGTCTGTG TCTTTTGAGATTAGCTTCTTCACTTGCTGTAACGCCTCATCCAGGTGGTT CTGTGTATTCAAAGTTCATTTCTTTTATTGCTGAGGAGTGTTCCGTTACA TGCATATCTATTAAATGCACGTACAGCAGTTTTTCCATTCACCTTTTGAG GGACATTTGGGTGCTTCCATTTTTTGGCGGTTAGGAACAGAGCTGCTGTA AGCCTTTGTGTACAGGTTTTTGTGCGAACATACATTTTTATTGCTGTTGG TAAATACCTACAAGTGAGATTGTTAGATCATATGATAAATGTATGTTCAA TTTTTAAGAGACTACCAAGCTGTTTTCCAAAGTGGCTGTATGATTTACAT CTCTTTCAGCAGTGTGTGATAGTGGTATCTTTGCGTCTCTACCAGCCCTC AATATTGTCAGTTTAAGAAGTGTAGCCATTTGAATAGGTGTATAGTGATT TTAGTTTGCATCATTGCCTAATGATGTTGAGCATTGATTCATGCACTTAT TTTATCTTTGTGTCCTCTTTTACCTGTTGAACTCTTTTGCCCATTTTAAA ATATTGGGTTATATATGCTTTTTTTTTTTTATTTTTTGAGATGGAGTCTC ACTCTGTCGCCTAGGCTGGAGTGCAGTGGGGCGATCTTGGCTCACTGCAA CCTTAGCCTCCGAGGTTCGAGCAATTCTCCTGCCTCAGCCTCCTGAGTAG CTGGGATTACAGACATGCGCCACCATGCCCGGCTAATTTTTTTGTACTTT TAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTG ACCTCAGGTGATCCACCCGCCTCAGCCTCTGAAAGTGCTGCGATTACAGG CGTGTGCCATTGCACCTGGCCTGGGTTATATATTTTCTTTCTTTTTTTTT GAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATGT CAGTTCATCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAG CCTCCTGAGTAGCTGAGATTACAGGTGCGTACCACCACGCCCGGCTAATT TTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCT TGAACTCCTGACCTCATGATCTGTCCGCCTTGTGGTCCACCCACCTTGGC CTCCCAAAGTGCTGAGATTACAGGTATGAGCCACCGCACCCCGCTGCATT GTATATTTTCTTACTGTCGTTTTGAGAGTTTTTTTTTTTTTAATATATTC TGGATTTATGTTAAATAGGTGATGTGCAAATATTTTCTCCCACTTTGCAT CTTGTCTTTTCATTCTCTTAACAGTGTCTTTCCAGAGCAAGTTTTTAATT ATGAAGTTCAGCTTTTAGCTTTTTTTAATGGATCATATGTGTGGTGTCAT ATCTAAGAACGCTTTACCTAACCTTAGTTGTTGAAGATTTTCTTCTGTGT TTTCTTCTGAAAGTTT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	328	0.0031	-1815	c.367 others(17): Show c.367+1776_367+3590del	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	4/10			chr19	TogoVar
BCL2L13_chr22_17633757_17735855	17641989	CGGGGTTT others(1807): Show CGGGGTTTCACTGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTTATTA TCTGCCCATGTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGTGCCACC GCGCCTGACCAATATGTGGTCTTTTGTGTCTGGCTTCTCTCTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCACTGTCGCCAGGCTGGAGTGCAGTG GCATGATCCCACTGCAACCTCGGACTCCCAGGTTGAACCTAACTCAGTCC CAAAGTAGACTGAGACTGTAACTCAGTCTCAGTAACTGTAACTCAGAGTA GCTGGGATTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTT AGTAGAGACGGGGTTTTGCCATGTTGGCTAGGCTGGTCTCCAGCTCCTGA TCTCAGGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACTGGC GTGAGCCACCACGCCCGGCCTGTCTGGCTTCTTTCACTTAGCATAATGTT TTCAGAGTTTATCCAAGATGTAGTGTGTATCAGTACTTTATTCCTTTTTA TTGCTGCATTCTATTCCATTGTGTGGACATACCACATTTTAAAAATAAGT TGATGGGCATTTTTTTTTTTTTGAGATGGCATTTCACTCTTGTTGCCCAG GCTGGAGTGCAATAGTGCCATCTCAGCTCACCTCAACCTCTGCCTCCTGG GTTTAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTATGGGC ACACACCACCATACCCAGCTAATTTTTTTTGTATTTTTTGTAGAGATGGG GTTTTTCCATGTTGCTGAGGCTGGTCTCAAATTCTTTGACTCAAGTGATC CTCTTGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGCATGAACCACCAC ACCTGGTCTGTAATGCTGCTTTGAGCATTCATGTGCAAATTTTTGTGCAG ATGCGTTTTCATTTTTCTCTGGTATATATCTGGAAGTGGAACAGAGTAAC TGAATTTTATGTCCTCCATTTACACAAGCCATATACAGGAAGCCTAATTA TTGTGAAAGTCAGATTATCTAGGACGGGATGAAAGTAAGGCAGTTCTCTG AATTATCTGCAAATGCCAACTGCTGAGTGAAAATATTTTTGGGTAGCTCT AACACAAGATTGAACAATTAGGCCTGTTTTAATTGGAAAGGGGGTAGTGT CTACACTAGAGTTTTAGTGTCTGCTGAGTTTTAAAAATGATACTTGTCCA GTTGCATTTTTCAGATGGGTGGGGTGAATTTTTTACCATTTGATAATTTT TTTTTTTGAGATGCAGTTTCACTCTTGTGAGGTCTTCACTCCCGACCTCA GGTGATCCGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAG CCACCGCGCCCGGCCATTTCATAATTTTTATTAGAATTATTTTACTCTCT TTCAGAGAAAGTCTTACAATTCAATAGGAGCTGGCAAAGCATGGATTAGA AAATAGCTTTGGACTCCATGTTAACTTGTGGAACTTAAAAAAAATTCCCT GTTCAAGCCACCAGTGAGTCATGAGACTAAAGAGCTGATAGCCAAGAAAC TTAATGTTTTGTTGTTGTTGTTTGCTTTTTTATTTTTATTTTATTTATTT ATTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGACTGGAGTGCAGTGGT GCGATCTCGGCTCACTGCACGCCCCGCCTCCTGGGTTCATGCCAGGAGGT GTGTAGCTGGGACTACAGGCACTCGCCACCATGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0111 a0001c0001t0002g0112	2	306	0.0065	-1814	c.-51 others(17): Show c.-51+3114_-51+4927del	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
ASMT_chrX_1610059_1648081	1639521	GAGGATGT others(1806): Show GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG TCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCC TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCC ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG GACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAG GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC CTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC CATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGA TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG TGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGT GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCT GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG TGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGT GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG AGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGT GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT CCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGGACGTGG GCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATC CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACAT GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCAT CCTGATGATCCATT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0139 a0006c0011t0001g0139	1	223	0.0045	-1813	c.910 others(17): Show c.910+2993_911-1438del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1639560	GTGTCCCA others(1806): Show GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGA TGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG TCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTG GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC CCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGC ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT CCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT GATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTT CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA GCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACAC AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA TCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCA TGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG ACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCC TGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC ATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGAT GTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGT GAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTG TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTG ATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA GGTCCACCCATCCTGATGATCCATTAGGATGTGGACACAGCCTCTGTGTG TGTGATAGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0129 a0002c0002t0001g0129	1	223	0.0045	-1813	c.910 others(17): Show c.910+3020_911-1411del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
SDHA_chr5_213320_262082	258389	CCTGCCAG others(1806): Show CCTGCCAGAGCATTACCGTTTGAGCTCCGCCTCCTGTCAGAGCATTACTG TGAGCTCCATCTCTTGTCAGAGCATTACCGTGTGAGCTCCACCCCCTGCC AGAGCATTACCGTGTGAGCTCCGCCCCCTGCCAGAGCATTACTGTGAGCT CCTTCTCCTCTCAGAGCCTTGCCGTGAGCTCCGCCCCCCGCCAGAGCATT ACCGTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGTGTGAGCTCCGCCT CCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCTGTCACAGCATTACCG TGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCG TCCGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGTGTG AGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCCCCTGCCAG AGCATTACTGTGAGCTCCTTCTCCTCTCAGAGCCTTGCCGTGAGCTCCGC CCTCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTAC CGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCC CGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTG TGAGCTCCGCCTCCCGCCACAGCATTACCGTGTGAGCTCCGCCTCCCGTC AGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAG CTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAG CATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCC GCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATT ACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCC CCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCG TGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCG ACAGAGCATTACCGTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGTGTG AGCTCCGCCTCCTGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAG AGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCT CCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCA TTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGC CCCCCGCCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTAC CGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCC CGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTG TGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTC ACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAG CTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAG CATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTCC GCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCT CCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCG TGTGAGCTCCGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01168.hp2 HG00735.hp2 HG01081.hp2 HG01168.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0020 a0002c0003t0004g0104 a0002c0003t0004g0020 a0002c0003t0004g0104	3	266	0.0113	-1813	c.19 others(11): Show c.1970_*3782del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		1308		chr5	TogoVar
HACL1_chr3_15555699_15606569	15594051	GGCCTCCC others(1805): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGTCCC CAAAATCTTTTAAAACTGAATTTGAGGCTGAGCACGGTGGCTGACGTCTG TAATCCCAGCATCTTGAGAGGCTGAGGCAGATGGATCACTTGAGTCTAGG AGTTCAAGACCAGCCTGGGCAACATGATGAAACCCTGTCTCTAAAAAATA TAAAAACTAGCTGAGTATGGTGGTGCACACCTGTAGTGCCAGCTACTTGG GAGGCTGAGGCAGGAGAATCGCTGGAACCTGGGAGGTGGAGTTTGCAGTG AGCCGAGATGGTGCCACTGCACTCCAGCATGGAGACGACAGAGTGAGACT CCAAATAAATAAATATTGAACTTGAATGTTTTACCCTTCAGTGTGACTTT CTAAGCTTAAACCACTCGGGAAAAAGGTATCTCAATATAATTCAGTTCAC CATTTTACACTTATAAAATAATTTCTTAAAAATTTCTGTTTAAGACAGAC TTGAAAATAAGTAATTACCACCAAGTAAACTAAACTTCTAGAACAGTACT ATCCAACAGAACTTTGTATAGTAATAGAAATGTTCTGCATTTGCAGTATG ATACGGTAGCCACTACTGACATGGTTACTGAGCACTTGAAATGTGGCTAC TACAAACTGATAAACTATGATTTAAATGTTATTTAATTTTAATTAATTTA AATGTAAACAAGTCATACGGCTCGTGGCTACTATACTTGCCAGTGCAGCT CCAGAAGTTCATTCAAACAGCAAAAATGTTTTAAATATGAACTTTTCGGC CGGGCATGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCCAAGGC CAGCAGATCATGAGGTCAAGAGACAGAGACCATCCTGGCCAACATAGTGA AACCCCATCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGCATG CCTGTAATCCCAGCTACTGGGGAAGCTGAGGCATGAGGATCGCTTGAACC CAGGAGGCAGAGGTTCCACTGAGCCGAGATTGCACCACTGCACTGTCCAG CCCAGATAACAGTGCAAGACTCCATCTCAAAAAAAAAAAAGTATGAACTT TTAACCATTCTCTTAATCATTGTTCTAGCATTTTTTACATTAAGGCATTA ATTAATAACTATAATTTAAATGCTTTCCAAGCTAAATGAAAAGATTAAAA TATTTGTCATATGTAAATAAAGCGGCAGAAAACAGTGACAATAGTGTTAC TTGATGGCCTATTTTTTTCAGGTTCAAATTCACAAGTTCCTTATCACAGA AAAAAAACTATTCTGGTGAGGTCTAGACTTTGAGAATCTTATTAGTTTGC ATTTCTTAGCAACTGAATTACTAGTTTCATTTTTGGAAATAAAAAAATGT ATTAAAACTAACATATGTGAAAAAAGTATGATACACATTCCTGTGAGAGT CCAAATTCTGCTTAAAAAATACATAGATAAGGGAAAAAACTGGAAGAAAA TGACCAATTCTTAACAGTTCTGAGATCATAGGTGATTTTCTTCATCTTTT TTCCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTATCAC CCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTC CTGGGTTCAAGCCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTA CAGACGCATGCCACCACACCAGGGTGATTTTTGTATTTTTAGTAGAGATG GTGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGA TCCACCTGCCTCA	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	428	0.0023	-1812	c.227 others(16): Show c.227+521_227+2332del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
ASMT_chrX_1610059_1648081	1637996	GTGTCCCA others(1804): Show GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTG TGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTG ATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGT GTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTG GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA GGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTG TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG GTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGG CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG TCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATG ATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCAC ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG TGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAG CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAC CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATG AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC TCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCC TCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCC TCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG ACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAG GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC TGTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCT GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAGGAC TGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGA CGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTG AGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGT GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT CCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGG ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA TCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG AGATAGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	223	0.0045	-1811	c.910 others(17): Show c.910+1445_911-2988del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
DLGAP2_chr8_732628_1713476	1401498	CTCCCTCC others(1804): Show CTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGAGCTTACTGAGCACTCC CTCCTTGTCCTCCAAAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCC TTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGT CCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTC CAGAGTCGTGCATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGA GTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCG TGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTA TTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGA GTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGC TTACTGAGTGCCACCTCCTCATCCTCCGGAGTCGTGTATTGAGTGCTTAC TGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAG CGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCC CCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCT CCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTC ATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTTC TCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCG GAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGT CGTGTATTGCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTC GTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCC TCCAGAGTCGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTTGTCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTG TATTGAGAACTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATT GAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGT GCTTACTGAGCGCTCCCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CTCCCTCCTTGTCCTCTGGAGTCGTGTATTGAGTGCTTACTGAGCGCCCC CTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCC TCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGT CCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTC CAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGA GTCGTGAAGAGAGTGTAAAATCGCTGATCACTCCAGGTGGTGAAGGGTGG ATGTGAAGTAAGGAGATTAAGGCGACTTACTCGTCGTCCTGCGTAGTGAA GAGATTGTAAAAAGAGGGCTACATCCAAGTCCTCATGCGTGGAGGATGAA TTGAGAAGATCCCCCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGC TTACTGAGCGCT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	-1811	c.107 others(19): Show c.107-99867_107-98057del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14			chr8	TogoVar
MLPH_chr2_237482251_237560322	237542873	GGGACAGT others(1804): Show GGGACAGTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTG GGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTGGAGACAGTGGTGAG TTGGGGGACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTG AGTGGGGAGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGTACAGTGG TGAGTGGGCACAGTAGTGAGTAGGGGGACAGTGGTGAATGGGGGACAGTG GTGAGTGGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTTGGGGGACA GTGGTGAGTGGGCACAGTAGTGAGTAGGGGGACAGTGGTGAATGGGGGAC AGTGGTGAATGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGC ACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGG GGACAGTGGTGAGTGGGGGAACAGTGGTGAGTGGGGGACAGTAGTGAGTG GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGT GGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGT GAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGT GAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGGACAGT AGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGCACGG TAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGA CAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGG ACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGG GGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGG GAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGT GGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAG TGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGA GTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGT GAGTGGGCACGGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGT GAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGT GGTGAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACA GTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACA GTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACA GTGGTGAGTGGGGGGACAGTGGTGAATGGGGACAGTAGTGAGTGGGGGAC CGTGGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTCGGGGG ACAGTGGTGAATGGGCACGGTAGTGAGTGGGGGGACAGTAGTGAGTGGGG ACAGTGGTGAGTGGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTG GGGGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACAT TGTTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTC AGTGGTGATTGGGCACTGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGG ACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	286	0.0035	-1811	c.153 others(18): Show c.1539+217_1540-1920del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results (Total: 2609 hits)