Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DLGAP2_chr8_732628_1713476	1015498	GTGTGTGA others(1537): Show GTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAG ACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTG TGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGAC GCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACC AGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCA CTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGG ACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCAC TGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACA GACGATGCCTCCACTGTGTGTATGACCAGGACAGACGATGCCTCCACTGT GTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGAC GGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTG TGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGC CTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTATGA CCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCC TCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCA GGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCC ACTGTGTGTGTGACCGGGACAGACGGCGCCTCCACTGTGTGTGTGACCAG GACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCA CTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAG ACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTG TGTGTGACCAGGACAGACGATGCCTCCACTGTGTGAGACCAGGACAGACG GCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGT GACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCG CCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTG ACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCT CCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAG GACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCA CTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGAC AGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTG TGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGA CGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCAC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	-1544	c.73+ others(19): Show c.73+107539_73+109082del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
NFIC_chr19_3361583_3474217	3393559	AATCCCAG others(1537): Show AATCCCAGCACTTTGGGAGACCGAGGAGGGCAGATCACTTGAGGTCAGGA TTTCAAGACCAGCCTGACCAACATGATGAAACCCGGTCTCTACTAAAAAT ACAAAAATGAGCCGGGCGTGGTGGCGCGAACCTGTAATCCCAGCTACTCT CAGGAGGCTGAGACAGGAGAATCGCTTAAACCCAGGAGGCAGAGGCTACA GTGAGCTGGGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGAC TCTGTCTCAAAAAAAAAAAAAAAAAAAAAGAGTTCCAACCACACATATAA TTTAACATTTTTCTGGTCCTCACACTTAAGAATGTAAATTTAAGTATACT GGGGAAATTAATTTTAACATTATTTTAAGTAATGTTAATTTTTTTTTTCC TTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGTGCAAT CTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAGTTCTCCTGCCT CAGCCTCCCGAGTAGCTGCCTCAGCTTCCCGAGTAGTAACATTAAAATGT TTAATTTTAACATTACTTTATTTAACCCAGGGCATCTGGAATGATACTAT TGCAATCCATAAACAACAGGAAAAATTATTGGTCTATTGGTCGGGTGCAG TGGCTCACGCCTGGAATCCCAGCCCTTTGGGAGGCTGAGGTGGGAGGATC ACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATACTAAGACCTTG TCTCTACAAAAAAATTAAAAAATTAGCCAGGCGTGGTGGCGTGAACCTGC GGTCCCAGCTACTCAGGAGGCTGAGGTGGGAAGATCGCTTGAGCCCAGGA ATGTGGGGCTCCAGCGAGCTGTGATTGTGTCACTGCATTCCAGCCTGGGT GACAGAGCAAGACTTCAACTCAAAAAAAAAGTTATCGAGGTATTTTATGA TCTTTTCCCCACCCACCCCCCACCCGCTTACACTAAGTCTGAAATTTGGA CAGACCACATTTCAAGCACTGGATGTCACACGTGGCCAGGGGCTGCTGTA TTGGGCAGGCCGTGCTAAGACATCTGAGTTCCAGAGCAGGGGTTCCCGAC CCCCGGGCCACAGACGGGTTCCGTGCCTGGGAGGAACCTGGCCACTCAGC AGGAGTTGAGCTTAGGGCAAGTGACCATTCTCACCTGAGCTCCACCTCCC GTCAGATCAGCGGGCGGCTCTGGGTGCCCCTACGAGCATGAACCCCATGG TGAACTGAACATAGGAGGGATCCAGGTTGCGTGCTCCTTAGGAGAATCTG ACTAATGTCTAATGTCTAGTTTCATCCCAGAACCATCTCCCCACTCACCC CGTCCCTGGAAAAATTGTCTTCCATGAAATCGGTCCCTGGGGCCAAGAAG GTTGGAGGCTGCTGTTCCAGAGAATTCGGAAGCAGATCTCCAGTCTCCCA AGTTGGGTTCTCGAAAACGTGAGGGCAGGTTCTAGACCTTCCAAACTGGT TGCTTGAAAATCCAAGGAGGCTGGGCGCGGTGGCTCACACCTGTC	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0252 a0001c0001t0252	a0001c0001t0252g0111 a0001c0001t0252g0111	1	300	0.0033	-1544	c.562 others(19): Show c.562+11334_562+12877del	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
GRIK3_chr1_36790527_37039515	36958604	ACCTGTGT others(1536): Show ACCTGTGTGCCCTGTGAGCCTGTGTGCCCTGTGACTGTGTGCCCAATGAG CCTGTGTCCCGTGAGCCTGTGTGCCCTGTGAGTCTGTGCCTTGTGACTCT GTGCCCCATGACTCTGTGCCCCGTGAGCCTGTGTGTCCCATGAACCTGTG TGCCCTGCGAGCCTGTGTGCCCTGTGACTGTGTGCCCAATGAGCCTGTGT CCCGTGAGCCTGTGTGCCCTGTGAGTCTGTGCCTTGTGACTCTGTGCCCC ATGAGCCTGTGTGTCCTGTGAGCCTGTGTGCCCTGTGAGTCTGTGCCTTG TGACTCTGTGCCCCATGAGCCTGTGTGCCCTGTGAGCCTGTGTGCCCTGT GAGCCTGCACCCCATGAGCCTCTGTGACCTGTGAGTTTGTGAGTCTGTGC CCCGTGACTCTGTGCCCCATGAGCCTGTGTGCCCTGTGAGTCTGTGTGCC CTGTGAGCCTGCACCCCATGAGCGTCTATGACCTGTGAGTCTGTGAGTCT GTGCCCCATGACTCTGTGCCCCATGAACCTGTGTGTCCTGTGAGCCTGTG TGCCCTGTGAGCCTGTGTGTCCCATGACTCTGTGTCCCGTGAGCCTGTGT GCCCTGTGAACCTGTGTGCCCCATGACTCTGTGTCCCATGACCTGTGTGT CCGGTAAGTCTGTGCCCCGTGAGCCTGTGCCTGTGAGCCTGTGCCCTGTG AGCCTCTGTGCCCCATGACTCTGTGTGCCCGGTGAGCCTGTGTGTCCCGT GAGCCTGTGTGCCCTGTGAGTCTGTGTGCCCTGTGAGCCTGCACCCCATG AGCCTCTGTGATCTGTGAGTCTGTGAGTCTGTGCCCCGTGACTCTGTGCC CCATGAGCCTGTGTGGCCCCTGACTCTGTGCCCTGTGAGCCTGTGTGCCC TGTGACTGTGTGCCCTGTGAGCCTGTGTGCCCTGTAAGCCTGGGTGTCCC ATGACTGTGTGCTCCATGAGCCTGTGTGCCCCATGACTCTGTACCCCATG AGCCTGTGTGCCCCGTAACTCTGTGCCCTGTGAGCCTATGTGTCCCATAA GCTTGTATGCCCTGTGAGTCTGTGTGCCCTGTGACTCTGTGCCCCTTGAG CCTGTGTGCTTTGTGAGTCGGTGTGTCCCATGAGTCTGTGCGCCCCATTG AGTCTGTGTGCCCTGTGAGCCTGTGTGCCCTGTGAGCCTGTGTACCCCAT GACTCTGTGCCCCATGAGCCTGTGTGCCCTGTGAGTCTGTGTGCCCTGTG AGCCTGTGTGCCCCATGAGCCGTGTGCCCCATGATTCTGTGCCCCATGAG CCTGTGTGCCCTGTGAGCCTGTGTGCCCCATGACTCTGTGCCCTGTGAGC CTGTGTGCCCTGTGAGTCTATGCCCCATGAGCCTCTGTGCCCCGTGAGTC TGTGTGCCCCATAAGTCTGTGTGCCCCGCGAGTCTGTGTGCCCTGTGAGC CTGTGTGCCCTGTGAGCCATGTGCCCCATGACTCTGTGCCCCATAAGCCT GTGTGCTCTGTGAGTCTGTGCCTCGTGAGCCTGTGCCCCTTGAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01496.hp2 HG01981.hp1 others(10): Show HG00673.hp2 HG01496.hp2 HG01981.hp1 HG01981.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02647.hp1 HG03704.hp1 HG06807.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0002c0001t0001 a0002c0001t0021 a0002c0001t0026 a0002c0004t0001 a0002c0004t0016 a0002c0004t0019	a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0002g0058 others(10): Show a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0002g0058 a0001c0003t0001g0045 a0002c0001t0001g0007 a0002c0001t0001g0049 a0002c0001t0001g0063 a0002c0001t0021g0012 a0002c0001t0026g0099 a0002c0004t0001g0046 a0002c0004t0001g0052 a0002c0004t0016g0011 a0002c0004t0019g0037	13	114	0.1140	-1543	c.116 others(19): Show c.116-69051_116-67509del	GRIK3	ENSG00000163873.10	transcript	ENST00000373091.8	protein_coding	1/15			chr1	TogoVar
RPGRIP1_chr14_21275083_21356301	21284957	GTTCGTTC others(1536): Show GTTCGTTCATTCTACTTTTCATACATTCGGTGTTTATTTGTTGAGTACCT GCTATGTGCCAATAACTGTTCGGGTACTGCATCTATAGAGGTAAACAAGA TAAACCATTTTTCTGCCTTCAAAGTCACTATGTTTTAGTGAGAGGGGACA GACAATAAACTAGTATAAATAAATGAAGGTAGTTTCTGTGTATAGTAAAT GTCACAAGGGAAATAAACAGGGTGAGGTGACAGAGTATAAGACTGGTAAG AGAAGGGGAAGTGCTCAGTTCAGCTACCAAAGTCAGAGAAAGGCCTCCTG GCAAATGAAAAGATGCTTGAGAGACCAAAGGATCAGATGGAGTCAGCCAA ATAAAGAGCAAGAAGGAGGCCAGGTGCAGTGGCTCAAGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGATCAGGAGATCAAGAC CATCTTGGCTAACATGGTGAGACCCCGTCTCTACTAAAAACACAAAAAAT TAGCCGGGCATGGTGGCACGTGCCTGTAGTCCGAGCTACTCAGGAGGCTG AGGCAGGAGAATCACTTGAACTCGGGAGGTGGAGGTTACAGTGAGCTGAG ATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCCA AAAAAAAAAAAAAGAGCAAGAAAGAGCTTGATGGTTGGGAGAGCAAAGAG AGGGCAAGTGGTGAGGAGTGTTGTGAGCTAGAGGAAGGAAGGTACAAGGT GTGATTGGAGGAATAAGAAGCGGATCAGCTGAGGTTGGGCTTTACAGGCC CTGGAAAAAAAGTGTAAATTTTACTTTAAGTGTAATGAAAAGCCATTTGG AGACTTTTGGCAAAGAAATGTTATGAACTGGGTTGTTTTATACAGGTCAC TCTGGGTGTTTCAGGCAGAAATAAGGGAGGATGGGAGAGGAAAATGGGGA GAGCATTAAAAAATGTGGTAGTTGAGGAAAGAGACACAGATCACTTGAAT TTTAGTGGCGGAGACAGGCTAATATATGTTGTTTTTGTCTGTGTTTGTTT TTTAGACAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATT TCAGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGCAATTCTCCTGCCTC AGCCTCCTGAGTAGCTGCGATTAAAGGCACCCGCCACCACGCCCGGCTAA TTTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCCAGGCTGG TCTTGAACTCCTGACCTCGGGCGATCCGCCCGCCTCAACCTCCCAAAGTG CCGGGGTTACAGGCATGAGCCACTGCACCTGGCTGATACATGTTTTAAAG GAAGAACCTGGAGAACATGCTAATGGGTGAGGGAAAGGGAGGAATCAAAG CTGCAGGATTGGTAGGACGGTAGTGGCATTTATGGACCTAGGGAAAGACT GGGAAAAGATGAGACTGGTAAGATAAATCAAAATTCCTGTTGGGGAAAAG TGAATTTGAGATATCTAGTAGCCATGCCAAGAGAAATGTTTAAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02717.hp1 HG02809.hp2 HG01884.hp2 HG02717.hp1 HG02809.hp2	a0001 a0022 a0001 a0022	a0001c0001 a0022c0033 a0001c0001 a0022c0033	a0001c0001t0001 a0022c0033t0001 a0001c0001t0001 a0022c0033t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0022c0033t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0022c0033t0001g0001	3	332	0.0090	-1543	c.-38 others(17): Show c.-38-2981_-38-1439del	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	1/24			chr14	TogoVar
ENO3_chr17_4946119_4962129	4957483	TACCACTG others(1535): Show TACCACTGCACTCCAGCCTGGGCTGCAGAGCAAGACCCTGTCTCAAAGCA ACAACAACAAAAAAAAACAAAAACAAACAAAAAAACTAAATAAAGAGTTT CAGAGGGAATAAGAAACCAGCTCCAGGAGAGGGGAGCAGGGTGGGGACTG GGGTCCTGCCACCACCATGAAGGGGAAGCTGGCTGTGAAGTAAATGGTCT GCAGAGGATGCTAGAGTGAGGCTGCAGTCCTAGGGAGGGCTTTGTGAGGA TGAGAGTGATAATGACAGTGGCTGCCTCTCCTATAGAACTTACAGGATCT TGGCAGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACCTGAGGTCGGGAGTTCGGGACCAGCCTGACCAACA TGGAGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCAGGCATGGT GGTGCATGCCTGTAATCCCAGTTACTCGGAGGCTGAGGCAGGAGAATCGC TTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCAC TCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAA AAAAAAAGAACTTACAGGATCTGAAACTGTTCTAAATATTTGACATATAT TGCCCTGTGCAATTGTTCAAACAGCTCTGTCAGATAGCTGCCATAATTAT CCTTATTTTATAGGTGAGGAAACCTGAGGCACAAAAGGTTAAATGCCTTA CCCAAGGTAACGGTTGGCAGCTGGCAGGGCTAGGATCCAAAGCCAAGGTA TTTGACTCCAGCGATTATACTCTCATGTATTTATTTTGAGCCAGCTTCTT GATCTGTCACCCAGGCAGGAGTGCAGTGATGCGATCATAGTTCACTGTAG CCTCAAACTCCTGGGCTCAAGCAATTCTCTTGCCTCAGCCTGCAAAGTAG CTGGGACTACAGGTGCACACCACCAGGTATGGCTAATTTTTAAATTTTGT ATATTTTATTTTCTTTTTGTAGAGAAGGTTTGTGGCCTAGACTGATCTCA AACTCCTGGAGTCAAGCGATTCTCCTGCCTTGGCCTCCCAAAGTGCTGGG ATCGCAGGTGTGAGCCACTGCGCTCAACCAATTTTTTAATTTTGTAGAGA GAAAGTCTCACTATGTTGCCCAGGCTGATCTTGACCTCCTGACCTCAAGT GATCCTCCAGCCTTGGCCTCCTAAAATGCTGGGATTACAGGTGTGAGCCA CTATGCCCAGCCCGATTGCACTCTTAAAATACAGCATCTTACAAAACCCT CTGGGCCGGGCACAGTGGCTCACTCTTGCAATCCCAGCACTTTGGGAGGC TGAGGCGGGCGGATCACCTGAGGTTAGGAGTTAGAGACCAGCCTGGCCAA TATGGTGAAACCCCATCTCTACTAAATGTACAAAAAATTACCCGGGTGTG GTGACACATGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGAAT CGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCGAGATCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	440	0.0023	-1542	c.43 others(10): Show c.437_*1978del	ENO3	ENSG00000108515.18	transcript	ENST00000519602.6	protein_coding		355		chr17	TogoVar
HOPX_chr4_56642998_56686296	56670890	GGGAGGCT others(1535): Show GGGAGGCTGAGGTAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAA TGAGCCGAGATTGTGCCGTTGCACTCCAGCCTGGGTGAAAAAAAAAAAAA ATCAAATACAGATAAGCTACACATACAATGGAGAATCAAGTAGATAAAAT TGTCATATTGCTCTGTAGACATCCAATCACTTTAGAACATTAAAATGTTC TTTCTAAAAATGTTCTCATTCCTAATGCCTGACTCTGAAAAGAGCTGTTC ATTTGTAATTCTGGGGATGTGACATCATGATTGGTTTTTTTGAAAATATA TGCTGGGTTCTACGGTATTTTTGCCTGAGCTCAAATTACATAGTAAGATA CATCAGAGACCTGTGTGGTGTTGCACATGCACCATGGGTAGATTTTCAGG CTGCCCAATCACATGCCTTTCCTTAGGCCATTAGACTGTCTACTGCAAGC AGACAGAACTTCCTCAGGTTAGTTGTGTATTTTGAAAAGTCCAGAAAAGA GTCTTTGACAGAATGGAATTATCTCTTTGCATAAATATATATTAATAGAT TATTATTTTTATGGTCCAACTACCATTCTTATTTTATGACTATAATTAGG TCATGGATAAAATGACCCACAGCTGGTACCTTGCAGAGCTCCAAATTATG CCAAAGTCCAACCACCCATGCTGCTTGTTGCCATGCTACTCAGTGATATG GACCTGATTTTTTTCCCCAGTTGAGTGGTTTTTATGAGCAGGTGTTCAGC TAATAGGACAAACAGAGGGTGTGCAGCTTTAGCCAGCTCATTAACATCAC GAAATAATTGAAAAGGACAGATACACCAGAATGTCCAGCTCAGGGGACAG CTTTGAACCTACAATAGATCACTTTTCTGAGCATCAGCCGTGATACTGCA GAAAGAGATTGAGTGAAGCTTCAGAAGACCCGGAGTCTCCTTCCAGCTCT ATCACATAGTCTCCAGGTAACTTTGGACAACTGTCTTAATTGCTTTAGAC GTCCATTTCATCATCTACTATTGAAGCTATTAACCTGCCCCACCTGTCAC ACAATGTTGTAGGATTCCATGAGATGGATTATGTTTATGAATGGCACTAT AAATTATCAACACTACATAAATACAAGGTACCATTATTAAGGTTCTAATC TAGCTTTCCCAGTGACTCAGGATATAATTGGGCAACAAAATGACATCAGG TTTTGCAATCATTAAAATGGCAAAACATTTTAGAAACTTCACTCAACCTC ATGACTAATAAGATTTCTTAGAACATTTCATTTGCTTTTTCTGGGTAATC AGTAACCAATATCGAGAAATAAAATGCTTCTAGAATTTATAAAGCCAAGT TTAAGAAAATGACATTTGGCTGGGTACAGTGGTTCATGCCTGTAATCCCA GCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAAGCCAGGAGTTCCAG ACCAGCCTAGGCAACATGGAGAAACCCCGCCTCTACTAAAAATACAAAAA TTAGCCAGGCATGGTGGCACACGCCTGTAATCCCAGCTGCTCT	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	376	0.0027	-1542	c.-84 others(18): Show c.-84+8823_-84+10364del	HOPX	ENSG00000171476.23	transcript	ENST00000420433.6	protein_coding	1/3			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32597215	TGTATTTT others(1535): Show TGTATTTTTTGTAGAGATGGGGTTCGCCATGTTGCCCAGGCTGGTGTTGA ACTCCTAGGCTCAAGTGATCTTCCTGCCTCAGCCTCCCAAAGTGCTGGGA TTACAGGCATGAGCCAGTGTGCCTGGCCCTTTAATTTCTTTTTCACATGT TATTGCAGCATCTGGGATCTTCAATACAACATTGAAGAGAAATGGTGAGA GTGGCTGGGTGCAGTGGTATGGTCCTGTAGTCCCAACTACTTGGGAAGCA AGAGGATTGCTTGAGCCCAGGAGTTCGAGTCCAGCCTGGGTAACACAGAG AGATCCTGTCTCTTTAAAAAAAAGAAAGAGGCCGGGCGCAGTGGCCCATG CCTGTAATCCGAGCACTTTGGGAGGCTGAGGCCGAGGGGGGGGCGGCAGG GGGTGCGGGGGTTGCAAGGTCAAGAGATAGAGACCATCCTGGCTAACATG GTGAAACCCTGTCTCTACTAAAAAATACAAAAATTAGTTGGGCATGGTGG TGTGCATCTGTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCT TGAACCTGGGAGGCAGAGGTTGCAGTGAGCAGAGGTCGTGCCACTGCACT CCAGCCTGGCGACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAATT AATTTCAGTGTTAACATAAAATATGTTTTAAAATGATGAATTTTTTTTTA AATGAGAGTGAACATCCTGGTCTTGTTGTGATCTTAAGGGGGAAGGCATT TAGTCTTTCCCCAGTAAGTAGTATGTCAGCAGTGGATATTCTGTAGATTA AAAAAAAGAAAATCAGACGAGACGTTTCCTTCCAGTTTACTGGGATTTTA ATTAAATCAAATTAATTAATTTACTTTTTGAGATGGAGTCTCACTCTGTC ACCTAGGCTGGGGTGCAGTGGTGTGATCTTGGCGCACTGCAACCTCCACC TCCCGGGTTCAAGCAATTCTGCCTCAGCCTCTCAAGTATCTGGGACTACA GGCACCCGCCACCACGCCCAGCAAATTTTTTTGTATTTTTAGTAGAGATG GGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATC CACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCTGGCCAGGATTTTTATTTTTAAATTATGAATGGGTGCTGAATTTTGT CAGATACCCTCTCTCCTTTTTGGTATTTATTGAGATTATTGTAGTTTTTA AATATTCCATTTTATTAACTTATTTAGAGACAGGGTCTCACTGTATTGCT CAGGCTGAAGTGCAGTGGTGTACCCAGTTCACTGTAACCTCAAATTCCTG GGCTCAAGCAGTCCTCCTGCCTTAGCCTCCTGGGTAGCTAGGACTACAGG CACATGCCACCAAGAATTTCCTTTAATGTTGCATAATGCATAGGTCTAGT AATAGCATCAGTTTTCATTACTTTAAATATATCTATATTTTACTGTCATT TTTCAAGGATATTTTTGCTGGATATAGAATTCTCAGTTGATGG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0289 a0001c0001t0012g0289	1	334	0.0030	-1542	c.-20 others(19): Show c.-20+10623_-20+12164del	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34			chr13	TogoVar
SPAG7_chr17_4954226_4972817	4957483	TACCACTG others(1535): Show TACCACTGCACTCCAGCCTGGGCTGCAGAGCAAGACCCTGTCTCAAAGCA ACAACAACAAAAAAAAACAAAAACAAACAAAAAAACTAAATAAAGAGTTT CAGAGGGAATAAGAAACCAGCTCCAGGAGAGGGGAGCAGGGTGGGGACTG GGGTCCTGCCACCACCATGAAGGGGAAGCTGGCTGTGAAGTAAATGGTCT GCAGAGGATGCTAGAGTGAGGCTGCAGTCCTAGGGAGGGCTTTGTGAGGA TGAGAGTGATAATGACAGTGGCTGCCTCTCCTATAGAACTTACAGGATCT TGGCAGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACCTGAGGTCGGGAGTTCGGGACCAGCCTGACCAACA TGGAGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCAGGCATGGT GGTGCATGCCTGTAATCCCAGTTACTCGGAGGCTGAGGCAGGAGAATCGC TTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCAC TCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAA AAAAAAAGAACTTACAGGATCTGAAACTGTTCTAAATATTTGACATATAT TGCCCTGTGCAATTGTTCAAACAGCTCTGTCAGATAGCTGCCATAATTAT CCTTATTTTATAGGTGAGGAAACCTGAGGCACAAAAGGTTAAATGCCTTA CCCAAGGTAACGGTTGGCAGCTGGCAGGGCTAGGATCCAAAGCCAAGGTA TTTGACTCCAGCGATTATACTCTCATGTATTTATTTTGAGCCAGCTTCTT GATCTGTCACCCAGGCAGGAGTGCAGTGATGCGATCATAGTTCACTGTAG CCTCAAACTCCTGGGCTCAAGCAATTCTCTTGCCTCAGCCTGCAAAGTAG CTGGGACTACAGGTGCACACCACCAGGTATGGCTAATTTTTAAATTTTGT ATATTTTATTTTCTTTTTGTAGAGAAGGTTTGTGGCCTAGACTGATCTCA AACTCCTGGAGTCAAGCGATTCTCCTGCCTTGGCCTCCCAAAGTGCTGGG ATCGCAGGTGTGAGCCACTGCGCTCAACCAATTTTTTAATTTTGTAGAGA GAAAGTCTCACTATGTTGCCCAGGCTGATCTTGACCTCCTGACCTCAAGT GATCCTCCAGCCTTGGCCTCCTAAAATGCTGGGATTACAGGTGTGAGCCA CTATGCCCAGCCCGATTGCACTCTTAAAATACAGCATCTTACAAAACCCT CTGGGCCGGGCACAGTGGCTCACTCTTGCAATCCCAGCACTTTGGGAGGC TGAGGCGGGCGGATCACCTGAGGTTAGGAGTTAGAGACCAGCCTGGCCAA TATGGTGAAACCCCATCTCTACTAAATGTACAAAAAATTACCCGGGTGTG GTGACACATGCCTGTAGTCCCAGCTACTCAGGAGGCTAAGGCAGGAGAAT CGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCGAGATCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	424	0.0024	-1542	c.50 others(10): Show c.509_*2050del	SPAG7	ENSG00000091640.8	transcript	ENST00000206020.8	protein_coding		1742		chr17	TogoVar
CLEC4C_chr12_7724383_7752375	7732413	GTGATCTC others(1534): Show GTGATCTCGGCTCACTGCAACCTCCAAATCCCTGGTTCAAGCGGTTCTTC TGCCTCAGGCTCCAGAGTAGCTGGGATTACACGCACGAGCCACCATGCCC AGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCC AGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCTCCTCGGCCTTCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGACCACAGGTCACTT TAAAATAAAGATATTTATGGCCAGGTGTGGTGGTTCACGCCTATAATCCA AGCATTTTGGGAGGCTGAGGATGGCGGATCACGAGGTCAGGAGATCAAGA CCATACTGGCTAACATGGTGAAACCCCGTCTCTACCAAAATACAAAAAAT TAGCCGGGCATGGTGGCAGGCAGCTACTCAGGAGGCTGAGGCAGGAGAAT GGCATGAACCCAGGAGGCGGAGCTGCAGTGAGCGGAGATCGCGCCACTGC ACTCCAGTCTCGGCGACAGAGGGACAGAGCAACATTCTGTCTCAAAAAAT AAAATAAAGATATTTATAATAGTAGTAGTTAAAATTAGTCATTGTCTACT ATATGCCAAGTATTATGCCATGAGTTTGCATAAGTTACTTCACGTAAATT TTACAACTACTACTGTGAGGAAGATAGTGTGGCTGTCTCCATTTTACTAA GTCTCAGGAAACAGATTTAGAAAGATAAAGTTGTCAAACGTCACACAACT AATAAATAACAGAGATCTAACTCTAGAGCCAGTATTCTTAACCAGTACAT GTTCTGTGTTACAAGAAAGATAGAGGTCTATAATCAAATTTTAGAAAGCC AAATTTTTTTTTTTTTTTGGAGGTGGAGTCTTGGTCTGTTGCCAAGGCTG GAGTGCAATGGTGTGATCTCGGCTCAGGGCAACCTTTGCTTTCTGGGTTC AAGCAATTCTCATGCCTCAGCCTCCTGAGTAACTGGGACTACAGGTGTAT GCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCAC CATGTTGACCAAGCTGGTCTTTTTTTTTTTTTTTTTTGAGACTGAGTCTT GCTCTGTCGCCCAGGCTAGAGTGCAGTGGCGAGATCTTGGCTCACTGCAA GCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGAACTACAGGCTCCCGCCACCATGCCCTGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCATATTAGCCAGGATGGTCTCAATCTCCTGA CCTTGTGATCCAGCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCACCTGGCCCCCAAGCTGGTCTTGAACTCCTGGCCTCAAGT GATCTGCCCACCTTCGCCTCCCAACATGCTGAGATTACAGGCGTGAGCCA CCACACCCAGCCGTCATATATTTTGTTTTGTTTTACTTGTTTCTTTTTGA GATGGAGTCTTGCTCTCTCACCCAGGCTGGAGTGCAGTGGTA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03486.hp1 HG02647.hp2 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0257 a0001c0005t0008g0258 a0001c0005t0008g0257 a0001c0005t0008g0258	2	448	0.0045	-1541	c.382 others(17): Show c.382-3042_382-1502del	CLEC4C	ENSG00000198178.11	transcript	ENST00000360345.8	protein_coding	4/5			chr12	TogoVar
CSNK1G2_chr19_1936172_1986338	1950285	ACCCGCCA others(1534): Show ACCCGCCACCACACCCAGCTAATTGTTTGTATTTTTAGTAGAGACGGGGT TTCACTGTGTTTGCCAGGATGGTCTTGATCTCCAGACCTCGTGATCCGCC CTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCT GGCCATCAATGTTTATTTTTAAGTAGCAAAAGAGAACTCAGCAGTGTTGG AGAACTTGAACATTACAGCAACATCTGAAGAAGATGTTCTTTCACAAACC TCAGATTCCAGGAGATGAGCACCGTCCGCTTTCCAGAGAAAATTGTCTGA GGCCTCTGGGAGACAGGAGGGGGTGCACTTAGAAACAGCCAAGGCCTCCT TCCATGTTGGGACGGACGGGCCTTCCTGGGCTGGCCCGGCCTAAATCTGC TGCCGCCCACCGAACACCAAGGCACCTTCTCGTGCCCCAGAGGCCACCAG CACCCGTCCCCCTGCCTCCCTCCAGCCAGTGTCAGGTGGGGACCTGGCCG CTGGAAGGGAGGTGTCACCTGCTCTGGGGCATCCAGGAGGGAGGGGCTGC GGGAGTTTTGCTGGAGACCCTCCAGGTGGGGGTTATGGGGTATCATGGCG GAGCGTGTTGGGAAGTTTTCGGTGAGCTGGGCGTTTATTCGCCTTGGTGC CCCCCTAGATCCCTGGGTGATCCCCGTGCCCAGTTTTCAGGGGAGACCAT GGGGGTCAGAGAGCTGGCCAGGCGGGTGGTCTGTGTCTGTCCCCTGCTGT TGAAATGAGGGGAGGTGAGAGGAGACGCCGTGTGCCTGGGGAGGCAACAC TTTCTACCGTTTGCTGGTTTATAAAAATCAAAGATGGCCAGGCACGGTGG CTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACG AGGTCAGGAGATTGAGACCATCCTGGCTCTACTAAAATACCCTGTCTCTA CTAAAAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGAC AGAGTGAGACTCCGTCTCAAAAAAAAAATAAAAAAAATCAAAGATGGGGG CCTGCTGGGACCGTTTGATTTCTTCCCATTCAGACCCTGCCAGATCCTGA GGCTGGCCCAGCTGCCTGTGTCCTCTGGGGCTCCCTGAGGAGGCAGCACC AGCTGTGGTGTGCATGACGGACAGGGGTCCCAGTTGGGGGGTGCAGCCTC CCGATGGGCCAGGATGGGGGATGCTTGGGTGCCCTCAGGATGTGCAGGCT GGGCGGGAGGAAGCGGTGAGAGTCCACCCCTCCCCACCTTCCTCTTCTCT GCTGTTTTTTTTTGGAGACAGAGTCTCACTGTGTCGCCCAGGCTGGAGTG CAGTGGTGTGATCTCCGTTCACTGCACGCTCCGCCTCCCGGGTTCACACC ATTCTCTTGCCTCAGCCTCCCGAGCAGCTGGGACCACAGGCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(65): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00621.hp1 HG00673.hp2 HG01081.hp1 HG01109.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp2 HG02074.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03669.hp1 HG03710.hp2 HG04199.hp2 NA18945.hp2 NA18948.hp2 NA18966.hp1 NA18969.hp2 NA18974.hp1 NA18983.hp2 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp1 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19068.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0012 a0002c0003 a0002c0006	a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 a0001c0002t0019 a0001c0002t0024 a0001c0004t0002 a0001c0012t0001 a0002c0003t0003 a0002c0006t0016	a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0023 others(61): Show a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0018g0282 a0001c0002t0002g0003 a0001c0002t0002g0015 a0001c0002t0002g0021 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0062 a0001c0002t0002g0075 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0267 a0001c0002t0019g0078 a0001c0002t0024g0025 a0001c0004t0002g0031 a0001c0012t0001g0269 a0002c0003t0003g0005 a0002c0003t0003g0006 a0002c0003t0003g0156 a0002c0003t0003g0270 a0002c0003t0003g0271 a0002c0003t0003g0272 a0002c0003t0003g0273 a0002c0003t0003g0274 a0002c0003t0003g0276 a0002c0003t0003g0280 a0002c0006t0016g0059	68	382	0.1780	-1541	c.-26 others(20): Show c.-266+8880_-266+10420del	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932385	GAGAGGAA others(1533): Show GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG CAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGCGAG AAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGG	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0103 a0001c0005t0103	a0001c0005t0103g0069 a0001c0005t0103g0069	1	386	0.0026	-1540	c.198 others(16): Show c.198+286_198+1825del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
SULT2A1_chr19_47865467_47891315	47869502	CCATGTTG others(1533): Show CCATGTTGGCCAGGCTGGTCTCAAACTCCTGAGCTCAAGTGATCCACCTA CCTTGGCCTCTCAAAGTGCTGGGATCATAGGCGTGAGCCACCTTACCCGG CCTTCTTGTTGTGGTTTTAATTTATATTTCTCTAGAGGCAAATGATGCAA AACATCGTTTCATGTGCTGATTTGCCATCCCTGTGTCCTCTTTGGTGAAA TGTTTGTTCAAATCTTTTATTCTTTTTTTTCTTTTAAAAGATTATTTGTT TAATGCTGGGTTTTAGGAGTTCTTTATGTATTCTAGAAACAAGTCCATTG CCAGATATGAGATTTACAAGTACTTCCTCTCCATCTCTGGTTTGTCTTCT TGTTTTCTCATTTTGTTTTGAGATGGAGTCTCACTTTGTTGCCCAGGCTG GAATGTAGTGGCACAATCTCGGCTCACTGCAACCTCCGCCAACACATCTG GCTAATTTTTCTATTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGA CTTGTCTTGAACTCCTGAGCTCAAGTGATCCACCTGCCTCGGCCTCCGAA AGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCTATCTTTTCATT CTCTTTATAGGTTCTTTGGTTCTTTTGCGGAACAAGACTTTAGTTTTTTT ATTTTTTATTTTTGAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGC AATGGTATGATCTCAGCTCACTGCAACCTCCATCTCCTAGGTTCAAGCAA TTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGTGCCATC ATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACTATGTT GGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCCTCCTTGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTTATG AAAGTTTTAGAAGCCTCCATAAACACCGTTTATTGTATATGGTTTAACAA CACAGAGTAAGAGGATAAAATTAGATTGCAAATTACACTCCTTAAGATCA GAGCAATAATAAATTGTGGAGATACATGTGATGAAAAGAAATGGAACCTT AATTGCTCCTGTAATTTTATTTCTTATTTTTATTACTAATTTTTGCTCTA AAATCTGTCACTGTAGCTATTTCTTATTTTTATTAACAAACATTTAGACA TCCTTTTAGGTAGTACGTACATTATTCTTGTAGCATTCTGTAAACGGGAA ACATTGCAAACATTTAAAAAAGTCTGGGATCCCATGACTCAACTCACTGC AACCTTTGCATCCCTGGGCTTTGAACCCTGGTTCTCTGAACCCTAGTCAC TTCTTTCTTTTTGAGACGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCATTGCAACCTCTGCCTCCTGAGTTCAAACGATTC TCCTACCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGCACCACCATG CCCGGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCAT	C C	splice_region_variant splice_region_variant	LOW	HG00741.hp1 HG01099.hp2 HG01243.hp1 others(10): Show HG00741.hp1 HG01099.hp2 HG01243.hp1 HG01346.hp2 HG01496.hp2 HG02683.hp2 HG02735.hp1 HG03491.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0006g0295 others(8): Show a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0006g0295 a0001c0001t0006g0296 a0001c0001t0006g0297 a0001c0001t0006g0298 a0001c0001t0006g0299 a0001c0001t0006g0301 a0001c0001t0006g0302 a0001c0001t0006g0303 a0001c0001t0006g0304	13	432	0.0301	-1540	c.41 others(10): Show c.413_*1952del	SULT2A1	ENSG00000105398.4	transcript	ENST00000222002.4	protein_coding	6/6			chr19	TogoVar
TMEM62_chr15_43128586_43190144	43176582	AGTGGACC others(1533): Show AGTGGACCTCTAGCAAACTCCAACAGACCTGCAGCTGAGGGTCCTGTCTG TTAGAAGGAAAACTAACAAACAGAAAGGACATCCACACCAAAAACCCATC TGTACATCACCATCATCAAAGACCAAAAGTAGATAAAACCACAAAGATGG GGAAAAAAACAGAGCAGAAAAACTGGAAAACTCTAAAAAGCAGAGCGCCT CTCCTCCTCCAAAGGAACACAGTTCCTCACCAGCAATGGAACAAAGCTGG ACGGAGAATGACTTTGACAAGTTGAGAGAAGAAGGCTTCAGACGATCAAA CTACTCCGAGCTACAGGAGGAAATTCAAACCAAAGGCAAAGAAGTTAAAA ACTTTGAAAAAAATTTAGACAAATGTGTAACTAGAATAACCAATACAGAG AAGTGCTTAAAGGAGCTGATGGAGCTGAAAGCCAAGGCTCGAGAACTACG TGAAGAATGTAGAAGCCTCAGGAGCCGATGCGATCAACTGGAAGAAAGGG TATCAGCGATGGAAGATGAAATGAATGAAATGAAGCGAGAAGGGAAGTTT AGAGAAAAAAGAATAAAAAGAAACGAGCAAAGCCTCCAAGAAATATGGGA CTATGTGAAAAGACCAAATCTGCTATGTGAAAAGAAGACACTTATGCAGC CAAAAAACACATGAAAAAATACTCACCGTCACTGGCCATCAGAGAAATGG AAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAGCAACAGGTGCTGGAGAGGATGTGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTTGGTGTGGTGATTCTTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCCATCCCATTACTGGGTATATACCCAAAAGACTATAAATCATGCTG CTATAAAGACACATGCACATGTATGTTTATTGTGGCACTATTCAGAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAACGATAGACTGGATTAAG AAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGA GTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCA GTAAACTATCGCAAGGACAAAAAACCAAACACCGTATGTTCTCACTCATC GGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCAC ACTCTGGGGACTGTTGTGGGGTGGGGTCAGGGGGAGGGATAGCATTAGGA GATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAGCATG GCACATGTATACATATGTAACTAACCTGCACATTGTGCACATGTACCCTA AAACTTAAAGTATAATAATAAAAATTAAAAAAAAAGAACTGTATAATGTA TAGGAAAGGACCATATTTGGACAGATACTCATATTTATGATTAGAATGAA GATATTTTGATATTTCTTTTAATTTACTTTTGAAGTATTTT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	344	0.0029	-1540	c.138 others(18): Show c.1382-2023_1382-484del	TMEM62	ENSG00000137842.7	transcript	ENST00000260403.7	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZNF516_chr18_76352682_76500242	76392933	GGGCAGGT others(1533): Show GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAG GGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGA AGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGC CGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0132 a0002c0013t0132	a0002c0013t0132g0182 a0002c0013t0132g0182	1	346	0.0029	-1540	c.181 others(21): Show c.1811-14170_1811-12631del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
TRIM6_chr11_5591637_5617952	5616197	CGCCTCGG others(1532): Show CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCTCATCTTTTTACTTTTAAACTATTTGTGTCTTCGTACTCCAGCCTG GGCAACAAGAGCGAAACACTGTCTCAAAAAAAAGAAAAGTATTTAAGTGG CATGTAGTTGCTCTAGGTAAATAATATAGTTATCTTCATTTTTCCCAACA AGTTACTGCTTGAGTTGGCATTTTAACTTAGTTTTAATTAAAATTTAAAT ATTTTGCTACTTTATATTTTGTCAGAAATGATCTTGATTCCATGGGACTC TCAGTTTTTTAAACATTTGCTGTATAACTGCTTTGTGCATACAGTCTAGC CCTTGCCTTCACAGAGACTCAGTCAGTTAGGGGATAAAACAAAGGCATAT TCTGTGCAAGGTTTATTTCAACCATCTTTTAGAAGATAAATTTGGGGTTT TAGGGTTCCAAGATTTGAAACATTACATTTGATTGGTGAAGGGCTAGTTC TCAGGTTCTCATGGGGTTGATGTTTGAGGCCGAGAATAACCTTTTTTTTT TTTTTTCCTTGAGATGGAGTCTCCCTCCTGTTGCCCATGCTGGAGTGCAG TGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATT CTCCTGCCTCAGCCTCCCAAGTACCTGGGATGAAAGGTGCCTGCCACCTT CGGCTAATTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATGTTGGCCA GGCTGATCTCAAACTCTCAGCCTCAGGTGATCCACCTGCCTCGGCCTCTC AAAGTGCTGGGATTACAGGCATAAGCCACCACGCCCAGCTTTTTTTTTTT TTTTTTAAATAAATGCAAGCTTAGGTACAGGCTCTTGTCAAATAAGGAAT CAACAAAGAAATAAAATATTGATTCATTTTTATCCATCTTGAAAACATAC TAGTATTTGAAGGGCAAATAATTAAAATATGAAAAACAATTAGGGAAATG GAGTCTATTTTGGAATCTTTGAAAAAGCAGAGGAGAAATGTTAGGAGAGA AATCAAGATAGAACTGCAAGTTTAAGGCATTATTGCCTATCTCAGCTAAG CATTGGCCTTTATTTCAAGAGATCGAAGGAAACCCTCACATTTTTGAACT GAAAGTCAACACATACATTTGAATCACACACATTTCCACCTGACCACTGA GGGTACTTGTATGAAGACAGCAACTGAGTTTTCTATATCGCTTCCTCTGT GTCAATCACGTTTCTATACATTATATATATGGACTCAATCTTTTTTTTTT TTTTTTTTTCAGGCAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAAT GGCACGATCTCGGCTCACTGCAACCTTCGCCTCCCAGGTTCAAGCGATTC ACCAGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGCATCAACCACCACG CCTGTCTAATTTTTGTGTTTTTTAGTAGAGACGGGGTTTCGCCATGTTAG CCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(126): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01978.hp2 HG02004.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG02976.hp2 HG03041.hp2 HG03209.hp2 HG03239.hp1 HG03490.hp1 HG03579.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0002c0006 a0002c0015 a0002c0016 a0002c0023 a0003c0014 a0004c0013	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 others(18): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0002t0005 a0001c0002t0035 a0001c0003t0003 a0001c0003t0005 a0001c0003t0026 a0001c0004t0005 a0001c0004t0011 a0001c0008t0013 a0002c0006t0003 a0002c0006t0005 a0002c0006t0022 a0002c0015t0005 a0002c0015t0009 a0002c0016t0003 a0002c0016t0005 a0002c0023t0005 a0003c0014t0024 a0004c0013t0005	a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0012 others(69): Show a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0022 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0190 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0214 a0001c0001t0003g0217 a0001c0001t0003g0226 a0001c0001t0003g0229 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0265 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0005g0016 a0001c0001t0005g0053 a0001c0001t0005g0121 a0001c0001t0005g0141 a0001c0001t0005g0143 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0009g0046 a0001c0001t0009g0085 a0001c0001t0009g0095 a0001c0002t0005g0003 a0001c0002t0005g0160 a0001c0002t0005g0171 a0001c0002t0035g0176 a0001c0003t0003g0010 a0001c0003t0003g0035 a0001c0003t0003g0201 a0001c0003t0005g0015 a0001c0003t0026g0002 a0001c0004t0005g0001 a0001c0004t0005g0148 a0001c0004t0005g0161 a0001c0004t0011g0001 a0001c0008t0013g0033 a0002c0006t0003g0007 a0002c0006t0003g0035 a0002c0006t0003g0060 a0002c0006t0003g0062 a0002c0006t0003g0196 a0002c0006t0003g0218 a0002c0006t0005g0015 a0002c0006t0005g0021 a0002c0006t0005g0028 a0002c0006t0005g0128 a0002c0006t0005g0132 a0002c0006t0022g0198 a0002c0015t0005g0144 a0002c0015t0009g0157 a0002c0016t0003g0262 a0002c0016t0005g0170 a0002c0023t0005g0147 a0003c0014t0024g0239 a0004c0013t0005g0042	129	480	0.2688	-1539	c.48 others(11): Show c.4856_*6394del	TRIM6	ENSG00000121236.21	transcript	ENST00000380097.8	protein_coding		3246		chr11	TogoVar
CNTN5_chr11_99015949_100363885	99681314	GCATAGCA others(1530): Show GCATAGCATTCTACACTACTAAGAATTTTTTTGTGAAAGGAAGAGACAAA CATGTCGCAAACTTCACTGTTGTCTTATTCTGAGAAATTGCCGCAGCCAC TGCGTTGTTCAGCAACCGTGAACCTGATCAGTCAGTAGCTGTCCACATCG AGGCAAGGCCCACCAGCAGCAAAAGATGACCATTTGTGGAAGGCTTAGAT GATAGCATTTTTTAACAATGAAGTATTTTTTAATTAAGGTATTTACATTT TTTAGATGAATGCTACTGTATGCTTAGTGGACTAAAGTAAAGTGTAAACA TGAATTTTATAAGCACTGGATGCCAAAAAATTTTTGTGGCTGTATTGCAA TATACACTTCATTGCAGTTGTCTAGAACTAAACCCACAATAATTCCCAGG TACACCTATAATTATGTTCATTTATAATTTAATAAAGCTTTCTAGAAATG ATCCCTTAGATCTATATATTGAAAAACTACACTTCTGTAGTTTACCTGAA ACGATTAACTCCAAAACATATCTTAGTGAAACTATTAAATTTTAAAGATA ATTTAAAAATATCCTTAGAATCCTCTAGGAAAAGAGATTAAATTATAACA GTGAGAAAATTAGACTGGCTGTAGACTTCTCAGGAATAACTCACAAAGCA AGGAGTTAATGGAGTGGAATTTCAGGAAACACAAAAAAGGGTAAGCCAAG CATTTTAGGTCTAGGCAAAAAATTTTCTTCAAGAATCAAGTGTACAGAAA AAGAATATGCAAGAACCAAGGAACATTATATACACAAATTGTTTATGAAT AATCTATCATATAATGAGTTTCATCTAAATAAAATGTCCTGGTGAAACTT CAGTAAGGGAATTGATGATTAGCATTAATATATTTATTTCTTGAAATATG ACTTAAAAGGGGTGAGGATATGAGTGGGTGAACAATATGTAAGTTTTATA CATTCTGGCAAAATAAAGTATTCAAGTGTAAAATGAAAAGAGAAGAGAGA TAAGTGAAAATAGAAAGATATTAATTGTGGGGTACGTCATAGGTGAGTCA AAGAATACTACTAAAAATGAAAGCCAGTTAGTACAATGCTAAAAATATGA GGCAGGGGTGGGAGGAAGCAGCTTTAGGGAAATGGGGACTATATAAACTA TAAATACAAAAATAATCCATAGAACAAACTTGTAAACTTTTCTAAATACC AAAGTAATTTTTTAAAAGGAGACAATACATTGAGAAACACAGTAAACAAA ATATAATTCAAACAGAAAGTATACCAAAAAATGAAAGCACCAAACCCAAA CACATCCGTTCTGTGTAATAGGTTGAACTCACCTATTACAATAAAAAGAT TTTAAAATTGGCACATAAAACCAAAATCTATGTTGTATGCCAGACCCATC TAAAATACAGTCATTCCAAAAAGTTAAATGAATGGAAAAAACACATCAGT CAAATGGAAACAATAAGACAACAAACCTAATATGAGAGGAAGTAGAATTT AGGCCAAAAGCATTAGATGAGACAAACGGTGTTGTTTC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	66	0.0152	-1537	c.55+ others(19): Show c.55+125046_55+126582del	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24			chr11	TogoVar
PCGF3_chr4_700832_775089	744682	CGAGCAGG others(1530): Show CGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGT TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0263 a0002c0002t0027g0263	1	366	0.0027	-1537	c.462 others(15): Show c.462+36_462+1572del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
AUTS2_chr7_69593475_70798506	70376620	CTGCTCTC others(1529): Show CTGCTCTCCTGTGTGATGTAATGGTGTGAAATGGTGTTTCCAGTGGAAGG CCTGCAGGGGTAAATGCTGTCTCTAATTAACCTGTTCATTTAGTGCTATT ATCCTTTATCTCGAATGCAGTTCTGCTCTGGGAGGATAAGGAAAGTGCTT AATTATAGTAACAGTTTCACATTGTCTTTGTTTGCATGATGAAGTACAAA AAGCCCAGGAGATGAAGCTGTCAGTCACTAAGTGTCTTTGGGAGCCTCTT GGTTTTTTGCATTTAATAATCATGCTCTGTTATTGCGTGTTGTTGAATGA AACCTCAGGTCACAGTCTTTGTCAATGATCTGACCCAAGACATCTGGCCT ATGTAAGTTATGGCTAATGTCCACGAACTGGATAATATCATTGGCAAATT GTGGCTTCATTGATGCCTGTTTATTTGCTTTTTGCCTCAATTAGAATACT TTGGATTGTTATTTGTCTTTTTACTGTGTTTTCTAACTCCCTAATTGCAT GTTAAGTACCTGTAGTCCAGGGAATGTGCCCCATGCTTCTTTGAAGCCTA AAGTCTTTTGGAATACCATCACAATATTTTTATAGGACTTTTTTATTAAC CACAATAAAAAATGTCCTATAAAAACATTGCAGAGATCCTCATACTCAAA CTCTGAGGAGCCAAAGTCAGCTGAATGGTGTTTGGGTCTCAAACAAACAA ATATAAATATATATATATATATATATATATATATATATATATATATATAT ATATAGTGATATATATATCGCAATAAAAATGTTGTATAAAATATTGTAAT GGTTAAAATGGTAAACCATTTATATATATTTAAATAGTTTATATTTAAAC TATTTAAAGCCATAAAATGGCTTACCATTTTAACAATTTTTAAATGTATA GTTTAATGGCATTAAATACATTCGCATTGTCGTACAGCCATCACCACTGT TCATCTCCGGAACATTTTTCGTCTTCCCAAACTGAAACTCCATGTTCATT AAACAATAACTCTCCATTCTTCCTTCCCCAACCCTGCCAACCAGCATTCT ACGGTCTGCCTCTATGAATTTGACTACTCTAGGTATCTCATAAAAGTAGA AACAAATAGTATTTATCCTTTTGTCTGGCTTATTTCGCTTAGGATAATGT CTTCTTTTTTTTTTTTTTTTGTGACAGAGTCTCACTTGTCGCCCAGGCTG GAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAAGCGCCC GCCACCACGGCTGGCTAATTTTTTTTTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAATGGTCTTGATCTCCTGACCTTGTGATCCG CCCATCTCAGCCTCCCAAAGTGCTGGTATTACAGGCGTGAGCCACCGCGC CCGGCCAGCATAATGTCTTTAAAGTTCATCCATGTTGGCAGCATGTGTCA GAATTGCCTTCCTTTTTAAGGCTGAATAATATTCCAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	76	0.0132	-1536	c.661 others(19): Show c.661-59129_661-57594del	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT9_chr12_132191372_132334589	132233446	CGTGGAGT others(1529): Show CGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGAGGAGACAGTGTG GAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT CCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCT AGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAG TGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTG CCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCC ACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGCCCCTAGTGCCAC ACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTGGTGCCACAC ACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACAC TCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTC GATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGA TGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATG GGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGG GCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGC GACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGA CAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCATGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAGACAG CGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTG GAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT CCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCT AGTGCCACACACTCGATGGGGCGACAGAGGAGACAGT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0005 a0005c0023t0005	a0005c0023t0005g0028 a0005c0023t0005g0028	1	183	0.0055	-1536	c.107 others(21): Show c.1077+12928_1077+14463del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
PCGF3_chr4_700832_775089	744984	CCCGGGGG others(1529): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0275 a0001c0001t0008g0275	1	366	0.0027	-1536	c.462 others(16): Show c.462+299_462+1834del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
THEG_chr19_356747_381026	360120	CTTTGACT others(1529): Show CTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCTCTCAGC AGGAGCGTCGGCTGGTTTGACCGTGGCTGTCGTTCTGACTCTGATGGTCC CGTGGCCCCTCAGCAGGAGCGTCGGCTGCTTTGACTGTGGCTGTCGTTCC TACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGCTTTGACC GTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCTCTCAGCAGGAGCGT CGGCTGGTTTGACCGTGGCTGTCGTTCTGACTCTGATGGTCCCGTGGCCC CTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCTGA CGGTCCCGTGGGCCCTCAGGAGGAGCATCAGCTGGTTTGACTGTGGCTGT CGTTCCGACTCCGACGGTCCCGTGGGCCCTCAGGAGGAGCATCAGCTGGT TTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCCCTCAGGAG GAGCATCAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCTGACAGTCCCG TGGGCCCTCAGGAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCTA CTCCGACGGTCCCGTGGCCCCTCAGCAAGAGCATCGGCTGGTTTGACTGT GGCTGTCGTTCCGACTCTGACGGTCCCGTGGGCTCTCAGGAGGAGCGTCG GCTGGTTTGACTGTGGCTGTCGTTCCTACTCCGACGGTCCCGTGGCCCCT CAGCAGGAGCATCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACG GTCCCGTGGGCTCTCAGGAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCG TTCCGACTCTGACAGTCCCGTGGGCCCTCAGGAGGAGCATCAGCTGGTTT GACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGA GCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTG GCCCCTCAGCAGGAGCGTCAGCTGGTTTGACTGTGGCTGTCGTTCCGACT CCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGG CTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGC TGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCA GCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGT CCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTT CCTACTCCGACGGTCCCGTGGGCCCTCAGGAGGAGCGTCGGCTGGTTTGA CTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGC GTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGC CCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCC GACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp1 others(36): Show HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02135.hp1 HG02647.hp2 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03492.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG04204.hp1 NA18612.hp2 NA18943.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18994.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19078.hp2 NA19086.hp1 NA19087.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0008 a0012	a0001c0001 a0003c0004 a0003c0012 others(6): Show a0001c0001 a0003c0004 a0003c0012 a0003c0024 a0003c0033 a0004c0026 a0005c0005 a0008c0008 a0012c0034	a0001c0001t0004 a0003c0004t0004 a0003c0004t0009 others(9): Show a0001c0001t0004 a0003c0004t0004 a0003c0004t0009 a0003c0004t0062 a0003c0012t0009 a0003c0024t0004 a0003c0033t0004 a0004c0026t0009 a0005c0005t0004 a0005c0005t0009 a0008c0008t0004 a0012c0034t0004	a0001c0001t0004g0012 a0003c0004t0004g0001 a0003c0004t0004g0192 others(32): Show a0001c0001t0004g0012 a0003c0004t0004g0001 a0003c0004t0004g0192 a0003c0004t0004g0236 a0003c0004t0004g0238 a0003c0004t0004g0262 a0003c0004t0004g0264 a0003c0004t0004g0273 a0003c0004t0004g0292 a0003c0004t0004g0297 a0003c0004t0004g0345 a0003c0004t0009g0086 a0003c0004t0062g0157 a0003c0012t0009g0016 a0003c0024t0004g0259 a0003c0033t0004g0191 a0004c0026t0009g0033 a0005c0005t0004g0013 a0005c0005t0004g0205 a0005c0005t0004g0254 a0005c0005t0004g0271 a0005c0005t0004g0276 a0005c0005t0004g0324 a0005c0005t0004g0325 a0005c0005t0004g0349 a0005c0005t0004g0350 a0005c0005t0009g0058 a0005c0005t0009g0104 a0008c0008t0004g0201 a0008c0008t0004g0207 a0008c0008t0004g0248 a0008c0008t0004g0295 a0008c0008t0004g0326 a0008c0008t0004g0343 a0012c0034t0004g0256	39	370	0.1054	-1536	c.54 others(10): Show c.544_*2079del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1626		chr19	TogoVar
NOC4L_chr12_132139457_132157468	132148890	ACCTCGGT others(1528): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18955.hp1 NA18986.hp2 HG00673.hp1 NA18955.hp1 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0001 a0002c0009t0001 a0002c0002t0001 a0002c0009t0001	a0002c0002t0001g0095 a0002c0002t0001g0243 a0002c0009t0001g0277 a0002c0002t0001g0095 a0002c0002t0001g0243 a0002c0009t0001g0277	3	294	0.0102	-1535	c.901 others(14): Show c.901+62_902-490del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
PCGF3_chr4_700832_775089	744985	CCGGGGGT others(1528): Show CCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTG TTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0273 a0001c0001t0008g0273	1	366	0.0027	-1535	c.462 others(16): Show c.462+299_462+1833del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDS5B_chr13_32581452_32783019	32597224	TGTAGAGA others(1526): Show TGTAGAGATGGGGTTCGCCATGTTGCCCAGGCTGGTGTTGAACTCCTAGG CTCAAGTGATCTTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCA TGAGCCAGTGTGCCTGGCCCTTTAATTTCTTTTTCACATGTTATTGCAGC ATCTGGGATCTTCAATACAACATTGAAGAGAAATGGTGAGAGTGGCTGGG TGCAGTGGTATGGTCCTGTAGTCCCAACTACTTGGGAAGCAAGAGGATTG CTTGAGCCCAGGAGTTCGAGTCCAGCCTGGGTAACACAGAGAGATCCTGT CTCTTTAAAAAAAAGAAAGAGGCCGGGCGCAGTGGCCCATGCCTGTAATC CGAGCACTTTGGGAGGCTGAGGCCGAGGGGGGGGCGGCAGGGGGTGCGGG GGTTGCAAGGTCAAGAGATAGAGACCATCCTGGCTAACATGGTGAAACCC TGTCTCTACTAAAAAATACAAAAATTAGTTGGGCATGGTGGTGTGCATCT GTAGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGG GAGGCAGAGGTTGCAGTGAGCAGAGGTCGTGCCACTGCACTCCAGCCTGG CGACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAATTAATTTCAGT GTTAACATAAAATATGTTTTAAAATGATGAATTTTTTTTTAAATGAGAGT GAACATCCTGGTCTTGTTGTGATCTTAAGGGGGAAGGCATTTAGTCTTTC CCCAGTAAGTAGTATGTCAGCAGTGGATATTCTGTAGATTAAAAAAAAGA AAATCAGACGAGACGTTTCCTTCCAGTTTACTGGGATTTTAATTAAATCA AATTAATTAATTTACTTTTTGAGATGGAGTCTCACTCTGTCACCTAGGCT GGGGTGCAGTGGTGTGATCTTGGCGCACTGCAACCTCCACCTCCCGGGTT CAAGCAATTCTGCCTCAGCCTCTCAAGTATCTGGGACTACAGGCACCCGC CACCACGCCCAGCAAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCAC TATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCACCTGCCT TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCA GGATTTTTATTTTTAAATTATGAATGGGTGCTGAATTTTGTCAGATACCC TCTCTCCTTTTTGGTATTTATTGAGATTATTGTAGTTTTTAAATATTCCA TTTTATTAACTTATTTAGAGACAGGGTCTCACTGTATTGCTCAGGCTGAA GTGCAGTGGTGTACCCAGTTCACTGTAACCTCAAATTCCTGGGCTCAAGC AGTCCTCCTGCCTTAGCCTCCTGGGTAGCTAGGACTACAGGCACATGCCA CCAAGAATTTCCTTTAATGTTGCATAATGCATAGGTCTAGTAATAGCATC AGTTTTCATTACTTTAAATATATCTATATTTTACTGTCATTTTTCAAGGA TATTTTTGCTGGATATAGAATTCTCAGTTGATGG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19240.hp2 HG03225.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0287 a0001c0001t0012g0288 a0001c0001t0012g0287 a0001c0001t0012g0288	2	334	0.0060	-1533	c.-20 others(19): Show c.-20+10632_-20+12164del	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34			chr13	TogoVar
ADARB2_chr10_1172313_1742525	1237688	GCCTCCCG others(1524): Show GCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGC CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCC CTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTG CATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTC CCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGT TTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCAC TCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACT CCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCC CCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCC TCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCC TGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGT GTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCGA TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCC TGCCTCCCGGAGTTTACTCCCCTCTCCCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0032 a0002c0002t0026g0032	1	106	0.0094	-1531	c.136 others(19): Show c.1361+2912_1362-3844del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
BBS9_chr7_33124564_33611069	33138225	CCTATAAA others(1524): Show CCTATAAAATGAGAGGACCAGCTGATTGATGGATACTTTCCAGCTGTTTT AGGTCTTTGATTTGAAAAATGATTTTTTTTAAGCCCTCAAAAGGTAACGG ACGGCAGAGGTCCTCTGAAAAAGAAGGGGAAAACTGGAGCTCTGCTGTAA GAAAATATCCACTTAGGCAATCAGGTATCAGTTACATCAGTGCCTCTTCA ACCTTAAGGTGCATGTGATTCACCTGGAGATACTGTTTGGGGAGGATGAG ATTCAACATTTCTCATAAGCTTTTGAGTGATACAGATGCTGCTGATCCAG GGATTACACCTGGAGTAGCAAGGGACCAAACTCTGTGAAAAGGGGGATTT CAGGAGCTAACGAAGTGGTGGGTGAATAAGGAAAAATTGATAGAGCAGGA GAAACAATAATGATATATATATTTTTAAGAGACAGGGTCTGGCTTTGTTG TCCAGGCTGGAGTGCAGGGGTGCAATCATGGCTCACTGTAGCCTCAACTC CTGGGCTCTAGTGGAGACTGGCTAATATTTTTTTTTTGGTGGGGGGGAAA GATGGGGTCTTGCTATGTTGCCCAGGCTCGTCTCAAACTCCTGGCCTGAA CTGATTCTCCTGCCTTGGCCTCTCAAAGTGCTGGCATTACAGACATGAAC CACTGTGCCTTGCCAAGAAGGATGTAAATGATGCCTTTGTTATTTTGTCA GTACAAGTAGATTTCTAATTTTCGGTTAGAAGTTAATGAGAAATGAGGCC AGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTC GGCGGATCACCTAAGTTCAGGAGTTCAAGACCAGCCTGACCAACATGGAG AAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGCAT GCCTGTAATACCAGCTATTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CCAGGAAGTGGAGGTTGCGGTGAGCTGAGATTGTGCCATTGCACTCCAGC CTGGGCAACAAGAGTGAAACTCTGTCTCAAAAACAAAAACAAAAAACAAA ACAAAACAAAAAAACAAGTTAATGAGAAATGAATGTCTTCTATAGGCATT CCTATTTGTAGACATTGTTGGAAAGTTCTTTCATATTGGAGGATTCTTTT GATTCTTTTTTTGTCTTTTTTATTTTAACAGCCCACTAGATCATAATATT GGAGGATTTTTTGTATTCATTCTAGCAAGCTGAAAAAATTTATTGACTCA CAGGTTTTTAAGGCCATTTTCATAGGATAGCTACTTTGACTTGATGCAGT ATTTATATTCAAACTCCAGCTTTGTCTCTTGTGGTCACTTATCTGAGGAT TTTGACTTTTTAAAAATGTATCATTCATTATCATTGACAGAAAAATCTCT TCTCTTTCTCCTTTACTTGGTTTAGTATGTTCTCTAGGCAGGCCCCATGA AGTTTTCTTTTCTGTCTGTGTTAGGCAAAGGTAAGACCCCCTTTGAGTGT TGTATAGTTCTTACTTTCTTATTTTCTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01975.hp1 HG01981.hp2 others(27): Show HG00423.hp2 HG01975.hp1 HG01981.hp2 HG02074.hp2 HG02155.hp1 HG02165.hp2 HG02293.hp2 HG03834.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp2 NA18967.hp1 NA18980.hp1 NA18982.hp2 NA19000.hp2 NA19001.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp1 NA19056.hp1 NA19063.hp2 NA19077.hp2 NA19081.hp2 NA19085.hp1 NA19087.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0020 a0001c0026 others(3): Show a0001c0001 a0001c0020 a0001c0026 a0002c0002 a0003c0003 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0020t0002 a0001c0026t0001 a0002c0002t0001 a0002c0002t0005 a0003c0003t0001 a0008c0007t0002	a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 others(27): Show a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0002g0048 a0001c0001t0005g0059 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0016g0071 a0001c0020t0002g0069 a0001c0026t0001g0068 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0005g0192 a0003c0003t0001g0047 a0003c0003t0001g0060 a0008c0007t0002g0046	30	268	0.1119	-1531	c.-11 others(17): Show c.-11-8016_-11-6486del	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	1/22			chr7	TogoVar
MAVS_chr20_3841834_3881118	3851709	GCTTTGGG others(1524): Show GCTTTGGGAGGCCAAGGCAGGCAGATCATCTGAGGTCAGGAGTTCAAGAC CAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTA ACCAGGTGTGGTGGTGCATGTCTGTAATTCCAGCTACTCAGGAGGCTGAG GCAGAAGAATCACTTGAACCCGGAAGGCAGAGGTTGCGATGAGCCGAGAT TGTGCCATTGTACTCCAGCCTGGGCAACAAGAGTCTGGAACTCTGTCTCA AAAAAGAAAAAAAGAATGTATGTGTAGCAGGCTTTTTTTTTTTTTTTTTC CCCCGAGACGGAATCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCA ATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCAGTACGCCGGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTATGTGTAGCAGGCT TTAATGGTGGGCCTGCAGCCATGTCATGGAAAGAAGCTGACCTGAAGATC TCAGTTCTTTCTTCTTCTACTAACTAGCAAGCATACCTCAGTTTCTTCTT TAAAGCGGGATGATCCGATTATTATCATGTTGGGGTTCACTTTTTATTTT TTCAGTGTGTCCCAAAGCAGCAGCACGTTTAGGTATAGCCCTCTTGCTAT CAGCTTGAGGGCCTTAGAGCCAGGAAGGGAGCCAGGACATTTATAGGCAC AGAAACTAGGGTCACATACAGATCCCCCCACCGCATGTGCTAGGGGTACA TGCAGACCTTCCCAGTGCTGACCAACCTGCAGAGAAGAAATGGGCCCTAG GTATTCTGGATCTGATTCTTTTTGGTCTTCAATTATTTTTATTTTTATTT TTTTAGAGACAGGGTCTCGCTGTGTTGCCCAGGCTGGCCTCGAACAGCTG GGCTCAAGCGATCCTCCTGCCCTAGCTTCTTGAGTAGCTGGTGGTCATCA ATTCATTTTTAGCAAATTCTGCAGAATTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCACTCTGCCGCCCAGGCTGGAGTGCAGTGGCGTGATCTC GGCTCACTACAACCTCCGCCTCTTGGGTTCAAGCAATTCTCTGTCTCAGC TTCCTGAATAGCTGGGACTGCAGGCGCCCGCCACCATGCTTGGCTAATTT TTTTGTATTTTCAGTAGAGACGGGGTTTCACCATCTTGGCCAAGTTGGTA TTGAACTCCTGACCTCGTGATCCATCCGCCTCGGCCTCCCAACGTGCTGG GGTTACAGGCGTGAGCCACCGCGCCCGGGTTCTGCAGGAATTTTGGAGAG ACTCAGGCAGTAATAAAATAGGATGTTTACAGAAATTAAAGATGGCGGCC GGGCGCGGTGGCTCACGCCTGTAATCCCAGCA	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0116 a0003c0004t0116	a0003c0004t0116g0038 a0003c0004t0116g0038	1	420	0.0024	-1531	c.-67 others(17): Show c.-67-2836_-67-1306del	MAVS	ENSG00000088888.18	transcript	ENST00000428216.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PDS5B_chr13_32581452_32783019	32597226	TAGAGATG others(1524): Show TAGAGATGGGGTTCGCCATGTTGCCCAGGCTGGTGTTGAACTCCTAGGCT CAAGTGATCTTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATG AGCCAGTGTGCCTGGCCCTTTAATTTCTTTTTCACATGTTATTGCAGCAT CTGGGATCTTCAATACAACATTGAAGAGAAATGGTGAGAGTGGCTGGGTG CAGTGGTATGGTCCTGTAGTCCCAACTACTTGGGAAGCAAGAGGATTGCT TGAGCCCAGGAGTTCGAGTCCAGCCTGGGTAACACAGAGAGATCCTGTCT CTTTAAAAAAAAGAAAGAGGCCGGGCGCAGTGGCCCATGCCTGTAATCCG AGCACTTTGGGAGGCTGAGGCCGAGGGGGGGGCGGCAGGGGGTGCGGGGG TTGCAAGGTCAAGAGATAGAGACCATCCTGGCTAACATGGTGAAACCCTG TCTCTACTAAAAAATACAAAAATTAGTTGGGCATGGTGGTGTGCATCTGT AGTACCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGA GGCAGAGGTTGCAGTGAGCAGAGGTCGTGCCACTGCACTCCAGCCTGGCG ACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAATTAATTTCAGTGT TAACATAAAATATGTTTTAAAATGATGAATTTTTTTTTAAATGAGAGTGA ACATCCTGGTCTTGTTGTGATCTTAAGGGGGAAGGCATTTAGTCTTTCCC CAGTAAGTAGTATGTCAGCAGTGGATATTCTGTAGATTAAAAAAAAGAAA ATCAGACGAGACGTTTCCTTCCAGTTTACTGGGATTTTAATTAAATCAAA TTAATTAATTTACTTTTTGAGATGGAGTCTCACTCTGTCACCTAGGCTGG GGTGCAGTGGTGTGATCTTGGCGCACTGCAACCTCCACCTCCCGGGTTCA AGCAATTCTGCCTCAGCCTCTCAAGTATCTGGGACTACAGGCACCCGCCA CCACGCCCAGCAAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTA TGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCACCTGCCTTG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAGG ATTTTTATTTTTAAATTATGAATGGGTGCTGAATTTTGTCAGATACCCTC TCTCCTTTTTGGTATTTATTGAGATTATTGTAGTTTTTAAATATTCCATT TTATTAACTTATTTAGAGACAGGGTCTCACTGTATTGCTCAGGCTGAAGT GCAGTGGTGTACCCAGTTCACTGTAACCTCAAATTCCTGGGCTCAAGCAG TCCTCCTGCCTTAGCCTCCTGGGTAGCTAGGACTACAGGCACATGCCACC AAGAATTTCCTTTAATGTTGCATAATGCATAGGTCTAGTAATAGCATCAG TTTTCATTACTTTAAATATATCTATATTTTACTGTCATTTTTCAAGGATA TTTTTGCTGGATATAGAATTCTCAGTTGATGG	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0290 a0001c0001t0012g0290	1	334	0.0030	-1531	c.-20 others(19): Show c.-20+10634_-20+12164del	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34			chr13	TogoVar
ACBD6_chr1_180283230_180507577	180303273	GATAGAGA others(1523): Show GATAGAGACACAAAAAACCCTTCAAAAACTCAATGAATCCAGGAGCTGGT TTTTTGAAAAGATCAACAAAATTGATAGACTGCTAGCAAGACTAATAAAG AAGAAAAGAGAGAAGAATCAAATAGATGCAATAAAAAATGATAAAGGGGA CATCACCACCAATCCCGCAGAAATACAAACTACCATCAGAGAATATTATA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATAAATTC CTCGACACATACACCCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAAGAGATCAATAATAGGATCTGAAATTGAGGCAAAAATTAATAGCTCAC CAACCAAAAAAAGTCCAGGACCAGATGGATTCACAGCCGAATTCCACCAG AGGTACAAGGAGGAGCTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGATGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATCC TGTTACCAAAGCCTGGCAGAGACACAACAAAAAAAGAGAATTTTAGACCA ATATCCCTGATGAATACTGATGCAAAAATCATCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAGAAGCTTATCCACCATGATTAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAACATACGCAAATCAATAAACGTA ATCCAGCATATAAACAGAACCAATGACAAAAATCATATGATTATCTCAGT AGATGCAGAAAAGGCCTTTGACAAAATTCAACAACGCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATCTCATAATAATAAGAGCT ATCTATGACAAACTCACAGCCAATATCATACTGAATGGGCAAAACCTGGA ACCATTCCCTTTGAAAATGGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGTAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGATGACATGACTGTGTATCTAGAAAACCCCATTGTCTCAGCCC AAAATCTCCTTAAGCTGATAGGCAACTTGAGCAAAGTCTCAGGATACAAA ATCAATGTGCAAAAATCACAAGCATTCTTATACAACAATAACAGACAGAG AGCCAAATCATGAGTGAACTCCCATTCACAACTGCTTCAAAGAGAATAAA ATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGA ACTACAAACCACTGCTCAAGGAAATAAAAGAGGATACAAACAAATGGAAG AACATTCCATGCTCATGGTAGGAAGAATCAATATCATGAAAATGGCCATA CTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACAAAT GACTTTCCTCACAGAATTGGAAAAAACTACTTTAAAGTTCACATGGAACC AAAAAAGAGCCCACATTGCCAAGTCAATCCT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG00642.hp1 others(11): Show HG00597.hp1 HG00639.hp2 HG00642.hp1 HG01099.hp1 HG01123.hp1 HG01175.hp1 HG02080.hp1 HG03669.hp2 HG04199.hp1 HG06807.hp1 NA18946.hp2 NA18960.hp2 NA18980.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171	14	334	0.0419	-1530	c.694 others(18): Show c.694+9889_694+11418del	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	7/7			chr1	TogoVar
C7orf50_chr7_992006_1143247	1127627	TGTCACCC others(1523): Show TGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTGATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCAGGC TGGAGTGCAGTGGCACGATCTCGGCTGATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGC AGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGC ACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGA TCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTC GGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCT CATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATC CCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCAC CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGC AGTGGCACAATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTG GCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGC GATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGG CTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCA TCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATC GCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCC ACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCAC CATCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTG TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTC ACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCATCACCCGGGC TGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCTGGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATCTCACC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03225.hp2 HG03453.hp1 HG01243.hp1 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0012g0292 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0012g0292	3	326	0.0092	-1530	c.-1- others(14): Show c.-1-1771_-1-242del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127635	AGGCTGGA others(1523): Show AGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCACAATCTCGGCTGATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCAGGCTGGAGTGC AGTGGCACGATCTCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCAC GATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTC GGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCT CATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATC TCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCAC CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCACCGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGC AGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCAC AATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGG CTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCA TCTCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCC ACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCC TGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCTG TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTC ACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCATCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGG GCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGC TGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCCCACCATCACCCGGGCTGGAGTGC AGTGGCGCCATCTCGGCTCATCCCACCGTCACCTGGGCTGGAGTGCAGTG GCGCGATCTCAGCTCATCTCACCGTCACCCG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG03130.hp1 others(1): Show HG02055.hp1 HG02280.hp2 HG03130.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0019g0324 others(1): Show a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0019g0324 a0001c0001t0019g0325	4	326	0.0123	-1530	c.-1- others(14): Show c.-1-1779_-1-250del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
DOK6_chr18_69395888_69854087	69505751	ACTCCCAA others(1523): Show ACTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCGGGCCCACA CTCCCATTCTTTACTCAGCAGCATGCAAGCAAACAAAACAAAACAAAATC CTATTTCTAACAACAAAAATTCACCAAAATACTAGCAAAATTAAACACAA AATGTTAAAACTTCCTCAAAAAAAAAATGCTGGACACTTACCCATATGCT TTTTTTTTCTCACATTAAGATAAAAGCAATTATAGCTAACTGGTGGGATC AGTGTGACAGTTCCATGAAATAATGAATGTAAAGGTCTTAGCAAGGTGCT TGGTAAATTCTAGCAACAAATGAATGTAGCTGTTATGTTAAGATAATAAC ATAATACTCTTTGGGTTCAGCAATCTTTGACATTTATTTTCTCCAATTTA TCTTCTAATGGACAAATAGATGGAAGTTATAAAGACTCTTTTTTAAAAAA GTATATAAAGTAGCACCATCACTCAGGGACAGGACATTTTTCTGTAAAGA AATTAAGGTATGTTTACATGCAGTATAATTTGCACTTTTAATGTAAAATT TTGTAAGCCCTTAGAAATGGGCATGGTTATTTAACCACCACAAGAATAAA AATACACAACAATTTAATCACTCCCCACAAATTTCCTTATGTCTTTTTGT CATGAACCCACAATTTATCCCTAACCCCTGACAACCTATGATTTGTTAAC TGTCTCTGTAGTTTTGCCTTTGTAAGTGTCGAAGAAATGAAATCAGACAC AACATAACCTTTCCAGTTTGGCTTCTTATATTTAATATAATGCATTTGGG ATTTTCTACACATTTATATTTATCAGTGGGTCACTTCTTTTTCATTGGCA AATACTATTTCTTTAAATAGACCTATCACAGTTTATTTATTTACTTACCT GTTGAAGTATATGTGAGCCATTTCCACATCTAGAATTGTGAGTAAACATT TCACATACATACATAAATTGTGTGGGAACATATTTTAATTTTCTTGATAA ATACCCAGACGTGGGGTTGCCGGGTTGTATGGTGTGTGTACATTCAGTAT TATAAAAACTGCTAAAGTTTTCCTAAATGATGGCAACATTTTGAATTTGC ATTGCTTCACACCTTGTTGAAAATGCACACACACACACACATATGTACAT ATATACACACACACACATATGTATATTTAAATATATATATTTTTGGATTA TATTGTATTTCATTGATCTATATATCCATTCTTTTGTCAATATTTACTTT CTTGGTAATTATAGGTTTTTGTGTTTTTTTGTTGTGTTTTGTTTGAGACA GAGTCTTTGTCACCCAGGCTGGAGTGCAGTGCAGTGGTACATTCTCGGCT CACTGCAAACTCCACCTCCCGGGTTCAAGCAATTCCCCTGCCTCAGCCTC TCAAGTAGCTGAGACTACAGGCGCGTGCCACCGTGGCTTGCTAATTTTTT GTATTTTCAGTAGAGAGGGGGTTTCACCGTGTTAGCCAGAATGGTCTTGA TCTCCTGACCTTGTGATCCGCCCACCTCGGC	A A	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18971.hp2 NA18966.hp2 NA18971.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0019 a0002c0004t0019	a0002c0004t0019g0083 a0002c0004t0019g0084 a0002c0004t0019g0083 a0002c0004t0019g0084	2	170	0.0118	-1530	c.67- others(17): Show c.67-58700_67-57171del	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
GFPT1_chr2_69314780_69392227	69340219	GAGGCATG others(1523): Show GAGGCATGATTCTAGGGCACTGTGGCCTCAAATTCCTGGTCTCAAGTGAT CCTCCTGCCCCAGCTTCCGAGGAGCTGGAACTATAGGCACACACCACTGC ACCCAGCTGCGAACAACTTTTTATAAATACACAAAATGACATATTTCCAT CACAATAGAGTAACTTAATGCTATAAATTCCACTGAATGCCACTACAAAA CCTAGAGAAAATTAAAATTTTGAAAAGCATATTAAGTAGGCTATACTTAA ATCATTTATGCCTAGTGTTCCATCACTGGAACGTTAAGCATGTGGGAGTT ATTTATATCCTACTGCTCAAGGTCAGCACCAAGGTCTGATGATTTTTCAC AAAAAAATTTTGCAACCTCTGGCATAAATGAGTTAAGAATGATTAGAGTG TAGTCAGTTATTCAGGATATAGATACTAAAAAAAAAACATGTAAATGTGT CATGAAACAACAACAAAAATGTAAAACAGGATAAAATAAATGGTACTATT TTGTCTGATAAACCACAGGGGGATTTCTAATGTTTGTTTACTACAGTAGT CTTGGCATCCACAAAACAACAAAAAATCTTACATTAGAGAATTCTAACAG AGTATATAATTTCTGCCCCCAAATTGTCTTAGCGTTAGATGAAGCGTTTA ATCAAATTTTCTATTTCTGAATACAGGGCTCATTCAGTAATAGATCTAAG CCACCACTAACGTGTTTACATCTTTCTTCTTCCCGTGTTCAAAATTTTTT TTTTTTTTTGAGACAGGGCCTGGTTTTGTCGCCCAGGTTGGAGTTCAGCG GTGCAATCTAGGCTCACTGCAGCCTCACCTTCTGGACTCAAGCGATCCTC CTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGGAGTTGCCACCACACC CCGATAATTTTTTTTTTTTGGTAGAGACGGGGTCTCGCTATGTTGCCCAG GCTCAAACTCCTAGGGTCAACTGATCCTCCCACTTTGCCCTCCCAAAGTG CTGGGATTACAGGTGTGAGCCACAACACCCAGACAAAACAATCACTTTTT TAGACCTCTACCCTTCAACATTACATAGACTTTCTGTTTAGGACCATATA ATTTTGGGGGAGGAGGGGAGGAGGTATTTGGTGTAGTCTTAGAAAAGAGC AAAGCTTGTTGAGATGCAAGGGCAGGTGACCAGATAGTTTCACTCACTGC TTAAATAAATGGCTCCTAATAAATATTTATGCCTCAGCAAATAAATAAGT TATGTCAGGAACTTTGGAAGTCAATCCTAAAAGCAGAAATTGAATGTAAA GGTCTTCTGTTCATAACAGTTGACATCAGCAACACATAAACTGTCTCTTT CTAAGGAAACTACGTGGGCAAATATTGGTCTTTTATTGGAATAAAAGACC CTCATACACCTATGCTTCTGCACTGACAATACACATTTTTGATACTGAAT TTCAGCTTCTAAAAGAACAATTTAAAGAATAAAATCTGATTTAAAAAAAA AAGCAGACTACCTTTCTTTGCAGTAATGTGC	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	366	0.0027	-1530	c.120 others(18): Show c.1203+403_1204-1655del	GFPT1	ENSG00000198380.13	transcript	ENST00000357308.9	protein_coding	13/19			chr2	TogoVar
CLASP1_chr2_121332776_121654462	121334594	AGCCACGG others(1522): Show AGCCACGGCACCCGGCCAGCTTGGCAGTAGTAAGCACTCATAGGTCCCAG TTCTTGTTCCCACTGAAGAATGAGCAGGTGTCCAGGGGAAATGGCAGGAC AGCAGACAGGAAAGCAGGAGACCAGAGGAGAGGCATGGCCGGAGTGCTGG CCCTGGACATACCTCCAGAGCCTTCCAAGTCCTCACGGTGGGGGAGCAGA GACCACGGTGGTGCAGAGCCTGAACCACCGCTGTAGGAGGCCATACTGCC CACCCCACCCAGACTGTTCCCAGGCACTTGGCAGGGCACAGGGGGAGGCA GGGCATCCCGGAACTGCCGGGAAGTGACCCAGGAACACTGTGTCTCCAGG AGCTCCAGGGCCCGGCAAGTCCACCTGGAGGCCAGGCACCTGCAGCTGAG GAGGGCATGGCACGAAGTATTTTAATGTCTTTTAAATACATAGCTGGGAT GAGATACCCATTCACATGACCTTTGTCCGTTCCTGCCTGGAGCCACTGAA GTGAGTTAATAAATACTGGAGGAGGTGGGCTGAGCCTGCGGGGGAAGAGC TGTCCCCTGAGGAGGGAGCTCTGGCCCAGGCGGCTTAGGCCATCATGGTC TTCTCTGCTAACAGCATCCCATTTCACTTTCAAAAGTTCTCGTCCTCCCA TGCTGAGTTAGGTGGTCACCATAGTTACCTGTAATGACAGGGATGGCCTG ACATTCCTGAGGCCATACCTTGTTTTCAGCCACAGCCTGCAGGATTGTCC CCAGCCTTGGGGTCAAACCACCTGTCACATTTTAAGCAAAATGCTCTACA ATCCCAAGTGGGGTCCCCAGCCCTGTAGCGGCGGCGCTGCCCGGGTACTC TGCAGAGACGCAGGTTTTCAGGCTGCCCCAGCCCTACTGGTCAGCAACGC AGGCAGGCAGTGATCTGCTTCACAAGCCCCGAGGGGTTCTGATGTGCACT CTGAGTCCTCGTAACTCCAGGGGGAGATGGAAGGGTGCAAGGCCTGATGA GGGGAGGGGAGCACTGCTGGACCAAATGCATAGCGGGGCCTGGCACAACT CCATCAGTCACTATGTAGCCGTGGCTCCTCCTGTGCCTGTTTCCTCATTT GGAAACCGAACACAACAGTGCGTCCGTCGATAGTATTTCAGGACATGTCC TACAGCAAGATGCTACAGACCAGAATCTTGCAAAGTGTGAAGTTCATCAG CCAAGAATGCTAACAGCCTCAGTACCCCACCCTTCACTGGTGGCCTGTGA CCCTCTGAAAAATGGCAAGGACTTCCTGGCAGCCCTTGGTAAGGTAGGGC AATGGCACCAGAGTTGGAGAACCACATATAGAAAGCTGAACAGGGCTGCT GTGTCTGAACCTGGTCCCACCGCCCAGGGTTTTTCTTTTGCTAATAAATA ATGGTCTCTGACTGCACATGCAGGTGTGCCTGTCGGGGGGGGGGGGAAGG CGGGTGACATCACCCTCTTGTGCATTTCCGGGTCCACAGTAGGAGGCAGG GCAGGCGACCATCGGGAGCATTTATTTCGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0005 a0001c0001t0044g0005	1	214	0.0047	-1529	c.47 others(11): Show c.4738_*6266del	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding		3181		chr2	TogoVar
DENND4C_chr9_19225693_19379281	19272870	TGATTCTC others(1521): Show TGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTTCAGGCACATGCC ACTACGCCTGGCTAATTTTTGTATCCTTTTTTTTTTTTTTTTTTTTTGAG ATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGG CTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCAAAGTAGCTGGGACTACAGGCACCCGCCGCCACCATGCCAGGCTAAT TTTGTTGTATTTTTAGTAGAGACAGAGTTTCACTAGGTTAGCCAGATGGT CTCAATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTG GTATTACAGGCGTGAGCCACTGCGCCTGGCAATTTTTGTATTTTTTAGTA GAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTC AGGTGATCCACCCACCTTGGCCTCCCAAAGTGCAGGAATTATAGGTGTAA GCCACCACGCTTGGCTGACATGATTTCTTACGACATCGCAAGCATGATCT GTAAGAGAATAGGTTAATAAATTGGAGTTCATCAAAAACCTCTGTTTTTC ATAAGACCCTGTAAGAGAATAAAAACACAAGCCGCAGACTGGGAGAAAAT ATTTGCAAAGCATATGTCTGATAGATGACTTGTCTCAAGAATACATAAAG AACTCAAAACTCATGAGAAAACAACTCAGTTAAAAAAAATGGACAAAAGA TTTGAACAGAAATTTCCCCAAAGAAGATATATGGATGGAAAATAAATCAA TGAAAAGATGTTCAGCATCAATAGTAATTGCAAATTAAAACCAGAAGTTG ATATCAGTACATACTGATTAGAATGTCTAAATTAAAAAGACTGATCTTAC AACGTGTTGAAGAGGATGTAGAACAATTGGAACTCTCAAAGCTGACAAGA GTGAAAAAAATGGTACACTCCCTTTAGAAAACTATTAGGTAGTTTTTTAG AACTATATACACCTAATCCAGCCATCCTGTTTTAGGAATTTACCCAAGAC AAATGAAAGCATTATGTCCATAAGATTTGTACATGGGTATTCACAGCAGC TTTATCTGTGATAGTTTCACACGGGAAATAACCTAAATGTCCATTAATAT AGGTGAATGGATAAACATTGTGGTATATTCATTCAGTAGAATACCACTCA GTAATAAAAGGGAATGAACTGTTGATACAAGCAACAACATGGATTTATCA CAAAATAATTATGATGAGTAAAGAAGCCAGAGAAAAAAGAATACATACTG TATGAGTCTACTTATTATATAAATTCTAGAAACTTATCTATAATGATAGG AAGCTGATAACTTGTTGCCTGAGGAGGAGAAATAATGAGGGAGGAACAAG AAAATTTTGATGTTGATGGATATGTTTCTTTCTTTTTTTTTTTGAGATGG AATTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTC ACCGCAACCTCCGCCTACCGGGTTCAAGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG01884.hp2 HG02055.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0043 a0001c0009t0002g0067 a0001c0009t0002g0043 a0001c0009t0002g0067	2	292	0.0069	-1528	c.-17 others(17): Show c.-17-3277_-17-1750del	DENND4C	ENSG00000137145.21	transcript	ENST00000434457.7	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr9	TogoVar
CDH4_chr20_61247261_61945617	61943513	CGTCTGCA others(1520): Show CGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCTTCTCACCGACAACGAGGAGCACTGCGAC CGTCTGCCCCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCATTGCGAC TGTATGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGAC CGTCTGCACCGTGGCCGCCCCTTCTCACTGACGATGCACCGTGGCCGCCC CTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCCCCGTGGCCGCCC CTTCTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCC CCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCC CTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCC CTTCTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCC CTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCC CTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCC CTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCC CTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCC CTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCC CTTCTCACTGACGATGAGCATTGCGACTGTATGCACCGTGGCCGCCCCTT CTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCT CTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTT CTCACCGACGACGAGGAGCACTGCGACCATCTGCACCGTGGCCGCCCCTT CTCACTGACGATGAGGAGCACTGCGACTGTCTGCACCGTGGCCGCCCCTT CTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTT CTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCCCTT CTCACCAACGATGAGGAGCACTGCGACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG03704.hp1 HG01346.hp2 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0014 a0002c0002t0012 a0002c0002t0014	a0002c0002t0012g0104 a0002c0002t0014g0062 a0002c0002t0012g0104 a0002c0002t0014g0062	2	106	0.0189	-1527	c.65 others(11): Show c.6571_*8097del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2897		chr20	TogoVar
MYT1L_chr2_1784113_2336275	2034460	CCCTCCAA others(1520): Show CCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCT CCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAAT CTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACA ATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCA ACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCC CCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCT CCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTT CTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAAC TTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCT AACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTC CTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAG CTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAG AGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAA GAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCA GAAGAGAGCTCCTAACTTCTCCCCAACCATCTCCACCCTCCAATGCGGGT GCAGAAGAGAGCTCCTAACTTCTCCCCAACCATCTCCACCCTCCAATGCG GGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATG CGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCA ATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCT CCAATGTGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCAC CCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTC CACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAAT CTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAAC AATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCC AACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTC CCCACAATCTCCCCCCTCCAATGTGGGTGCAGAAGAGAGCTCCTAACTTC TCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAAC TTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTA ACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTC CTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAG CTCCTAACTTCTCCCCAACAATCTCCAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp1 HG02647.hp1 others(7): Show HG02559.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03942.hp1 NA18990.hp1 NA19055.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0024 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0002t0015 a0001c0003t0010 a0001c0004t0001 a0001c0024t0020 a0002c0011t0001	a0001c0001t0001g0050 a0001c0001t0002g0090 a0001c0001t0008g0009 others(7): Show a0001c0001t0001g0050 a0001c0001t0002g0090 a0001c0001t0008g0009 a0001c0001t0010g0034 a0001c0002t0015g0008 a0001c0003t0010g0096 a0001c0004t0001g0087 a0001c0024t0020g0064 a0002c0011t0001g0043 a0002c0011t0001g0078	10	104	0.0962	-1527	c.-15 others(21): Show c.-158+17991_-158+19517del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
UNC13B_chr9_35157009_35410335	35372524	CCCCTGTG others(1520): Show CCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAA CTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTAG CAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACAT GGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGAC TTAACTCTCTGGGCTTGGCAGATACATGGGCCCCTGTGCAAGAGTGTGGC TAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTGGCAGATA CATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAG ACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGT GGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAG ATACATGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTC AGACTTAACTCTCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTG TGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCA GATACATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCT CTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCTGTGCAAGA GTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTG GCAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAG CTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGCCCCTGTGCAA GAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGTGCT TGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCC AGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCTGTGC AAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGG CTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGC CCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCTG TGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCT GGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGC AGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGGCC CCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACT CTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTAGCA AGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGG GGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTA ACTCTCTGGGCTTGGCAGATACATGGGG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(53): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00621.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG02040.hp2 HG02083.hp1 HG02109.hp1 HG02155.hp1 HG02280.hp2 HG02293.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 NA18612.hp1 NA18945.hp2 NA18957.hp1 NA18963.hp1 NA18965.hp2 NA18968.hp2 NA18971.hp2 NA18993.hp2 NA19002.hp2 NA19010.hp2 NA19063.hp1 NA19068.hp1 NA19074.hp2 NA19088.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0009 others(8): Show a0001 a0002 a0009 a0011 a0012 a0027 a0028 a0029 a0030 a0031 a0032	a0001c0001 a0002c0003 a0002c0004 others(13): Show a0001c0001 a0002c0003 a0002c0004 a0002c0010 a0002c0011 a0002c0031 a0009c0020 a0009c0022 a0011c0017 a0012c0018 a0027c0040 a0028c0032 a0029c0030 a0030c0033 a0031c0034 a0032c0029	a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 others(14): Show a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 a0002c0010t0001 a0002c0011t0001 a0002c0031t0001 a0009c0020t0001 a0009c0022t0001 a0011c0017t0001 a0012c0018t0001 a0012c0018t0007 a0027c0040t0001 a0028c0032t0001 a0029c0030t0001 a0030c0033t0001 a0031c0034t0001 a0032c0029t0001	a0001c0001t0001g0143 a0002c0003t0001g0024 a0002c0003t0001g0026 others(53): Show a0001c0001t0001g0143 a0002c0003t0001g0024 a0002c0003t0001g0026 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0044 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0074 a0002c0003t0001g0192 a0002c0003t0001g0193 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0206 a0002c0003t0001g0207 a0002c0003t0001g0208 a0002c0004t0001g0016 a0002c0004t0001g0027 a0002c0004t0001g0028 a0002c0004t0001g0029 a0002c0004t0001g0030 a0002c0004t0001g0031 a0002c0004t0001g0033 a0002c0004t0001g0034 a0002c0004t0001g0073 a0002c0004t0001g0212 a0002c0004t0001g0213 a0002c0004t0001g0214 a0002c0010t0001g0017 a0002c0010t0001g0032 a0002c0010t0001g0035 a0002c0010t0001g0036 a0002c0010t0001g0099 a0002c0011t0001g0175 a0002c0011t0001g0177 a0002c0011t0001g0178 a0002c0011t0001g0179 a0002c0031t0001g0038 a0009c0020t0001g0098 a0009c0022t0001g0102 a0011c0017t0001g0022 a0011c0017t0001g0037 a0012c0018t0001g0123 a0012c0018t0007g0124 a0027c0040t0001g0131 a0028c0032t0001g0043 a0029c0030t0001g0072 a0030c0033t0001g0108 a0031c0034t0001g0067 a0032c0029t0001g0050	56	224	0.2500	-1527	c.954 others(18): Show c.9540+2339_9541-866del	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	13/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35372827	GGGGCCCT others(1519): Show GGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACT TAACTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGC TAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATA CATGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGA CTTAACTCTCTGTGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGG CTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGAT ACATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTC AGACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTG TGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTGGCA GATACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTC TCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGCCCCTGTGCAAGAG TGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTGG CAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGC TCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCTGTGCAAG AGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTT GGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCC AGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCTGTGC AAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGGG CTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGC CCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGGCCCCT GTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACTCTC TGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTAGCAAGG CAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGGC CCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAACT CTCTGGGCTTGGCAGATACATGGGGCCCTGTGCAAGAGTGTGGCTAGCAA GGCAGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGG GCCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTA ACTCTCTGGGCTTGGCAGATACATGGGGCCCCTGTGCAAGAGTGTGGCTA GCAAGGCAGCCCCAGCTCTCAGACTTAACTCTCTGTGCTTGGCAGATACA TGGGCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACT TAACTCTCTGGGCTTGGCATATACATC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA19068.hp2 HG02895.hp2 NA19068.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0197 a0003c0002t0001g0079 a0001c0001t0001g0197 a0003c0002t0001g0079	2	224	0.0089	-1526	c.954 others(18): Show c.9541-2144_9541-619del	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	13/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCSER2_chr10_84323589_84523517	84433173	ATATTGTT others(1518): Show ATATTGTTTCGGATATTTTGGGTCTTTTGCCTGTTCTAATAAAGAATTTA GAATCACCTTGCCGATATCCTCAAAATAACTTGCTGAAATTTTGATTGGG ATTGTCTTAAAATGTTACCACAAACATAAAAATACGTACATTTAACTTTT AGTATAAAGTTTTTATTAATGGTGATGAAACACTAATGATTTTATGAAAT CAAAACTGTGACTCAGGTTACATAAGAAATGAAGAAGAAAAATCTCCCCA CCCCACACACATACACACACACACACACATACACAAGTATACACACACAG ATATACAAACATCTGCACTTGCCAGTCTAACCTATAAATCACAAACTTTT AGATTAGCATGAAATCACACATCTTAGTAATCAAGAAGTTCTGTTGGGAG TGGGAAGAATAAAGTTATTTGTAAGTATATGGGTGTAGCCATAGAATTTG GAGAAATTCCTTTAAAACTGCATTAAATAATTATGCAACAATGATTTGTA TGCTTGTGGGTTTAATATCAGGTTCTGCTACTGTATGTGAATTCAGTTTA AGTGGGTAAAGACGGTTATCTCTTCAAGATTCTTTTCTCTAGTTTGCATC TTTTTTTTTATCTTGTTGATTTTATTGGCAGCACTTAAAGAGCAAGGTTA GATAATATTGGAGACAGTGGGCTTTCATTCTCATGCCTTTGAAACCACTG AACTCATTTTTGCCTTCACCCATATCTCTAATGGTTCATTTCTTCATATT TACCTGCCTGCCTGGGCTATGATCGGCCACATAAGATCTCACTTCACTAA CACATGGCTACTAGCATTCTAGTGTGTTCATGCCACAGCAGCTTTGCAGT CTTCATGTTGCTTTCACTACCGGAGTTTCTGTTAGAAATTCATGAATGTT AAAATTTATACAGAGGTACAAATGTATCAACTTAATGTGGGGGATTATGG CCAGTAATTCCCCCTTCATCTCTTATTTTTTATTACCCTTCTTACACATT TGCCCCTGGATTTGTGTCTTTAGTCTTAGAAAGTGATTTTACCTCCCATT CTGAGATTTATTTTTTAATGTGGAAACTGCATCATCTTCTCAGAATCTGA AATCTCAAATTCTGAGATTAAAATCTTCATTATCTTTCTGTCCCGTGTTC CCGCTCCCTCCTATCTTCATAGTCTCCTTTTATTTTCTGAAAATAATCCC TGTTATATATTTGCTTTCTGTTCCATCTTTCCCTCTTTCTGTCTCTTAGA TTTCTCTGTTATATTGATTTTTTTCCCCAGAAAACTTCATGTGTTTCTCC CAGTGGGATTTTATGTCACTTTTAATTTATTGTCAGATGGTTTAGCAACA AATACATAGATGCAAAGCAAATGTGTCAATATTTTAACAGTTGGTAAATA TAGGTGAAGGGTATATTGTTGTTCATTGTAGTATTCTTTTGATACTTCTA TTTCAAGAAATGTTTCAAGATAAAGAGGTTGGAAACTTAATAATATTATA GTAAGTCATTTTTATTTAATATTTAC	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0226 a0001c0010t0003g0226	1	370	0.0027	-1525	c.186 others(19): Show c.1869-5335_1869-3811del	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP1R13B_chr14_103728195_103852575	103779172	TCAGCTAC others(1518): Show TCAGCTACTTGGGGGGCTGAGGCGGGAGAATGACTTGAGTGAGAGGGGTC GAGGCTGCAGTAAGTCAGGATTGGGCTACTGCACAATCTTGCTCTGTTGC ACTCCAGCCTGGGCAACAGAGCAAGACCCTGTTTAAAAAAAATAAATTAA AAATAAATGAAATAAAGTGTGTAAATGAAATCTTTTCTTTTTACATTCTA TCTCAGAATCTTGAAATTGACTTGTTATCAAAAGGCTTTTAACACTTAAA AATGGAGAAGATGGTAAATTTTATGTGTATTTTATCTCAATTAAAAATAA AAATTTGGGGCTGGGCGAGGTGGCTCATGTCTGTATTCCCAGCACTTTGG GAGGTGCTGGGATTCTCCCAAGGTGGGAGGATCACTTGAGCTCAGGAATT CAAGACCAGCCTGGGCAACGTGGCGAAAATCTGTCTCTACAAAAAAAAAA AAATACAGAAAGTAGCGAGGCATGGTGACATGTGCCTCATGTGCCTGTAG TCCCAGCCACTCACGAGGCTGAGGAGAATAGCTTGAGCCTAGGAGGTAGA GACTGCAGTGAACCATGATCGCACCATTGCGCTCCAGCCCAGGTGACAGT GAGACCCTGTCTCAAAAATAACATAAAGATAAAAATTTGGCATTCATATT ACCAAGAGAGGAAAAAAAAGAAAAAAATTTTCAAAAAGGCATTTGCGGCC AGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCG GACAGGCTGCTTGAAGCCAGGAGTTTGAGACCAGCCTGCCCGAATGGCAA AACCCTGTCTCTAGTAAAATTACAAAAATTACCCAGGCGTGGTGGTGCAC ACCTGTAATCCCAGCTAACTAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CCGGGAGGCGGAGGTTGCAGTGAGCTGAGATAGCACCACTGCACACCAGC CTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAACCAAAACTAAAAGCA AAAAAAAAATCCAAAAGGCATTTGCATTTTAGGGCCAGGCATGGTGGCTC ATGCCTGCAATCCCTGCAGTTTCAGAGGCCAAGGCAGGAGGATCACTTGA GACCAGGAGTTCACGACCAGCCTGGGCAACAGCGTGAAACCCTATCTTTA CCAAAAATACAAAAAATTAGCTGGGCGTGGTGGCACACGCCTGCGGTCCC AGCTACTTGGAAGGCTGAAGTGGGAGGATCACTTGAGCCCAGGAGGCAGA GGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTAACAAG TGAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACATTC ACTGAGATGGGGGCTGGACGTGGTGGCTCATGCCTGTAATCCCAGCACTT TGGGAGGCCAAGGCGGGCAGATCATGAGGTCAGGAGATTGAGACCATCCT GGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCC GGCATGGTGGTGCACACCTGTAGTCC	T T	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	332	0.0030	-1525	c.278 others(16): Show c.278-1876_278-352del	PPP1R13B	ENSG00000088808.18	transcript	ENST00000202556.14	protein_coding	3/16			chr14	TogoVar
CCPG1_chr15_55350239_55413359	55363339	GCTCCATC others(1517): Show GCTCCATCTCAGAAAAAAAACAAACAAAACAAAAAAAAAACCCAAACCCA AACCAAACTACAAACTCTCTCTAGAGGTTAATGCGTGGTGAGTTTTCCAA AAGCCAATGTTATCCTATGGAACCAGAAAACACTGTGGTGAAGAAGAAAA TGGCATCTTCTAATACAGGTAGGAAAAACTGAACTATTTATAATTAACTT CAGAAGTACCTCCCTGTGTCTACAGCCATAACACCCTAAATGCCGCCAGT CTCCTCTGATGGCAGAAGCTAGGCAGGGTCTGGCCTGGTTAGTACTTGGA TGGGAGAAGTACCTCCCTGAAAGATACAATTTAGTTACAAAGTAGTATTT TTGTCTTTTCAAGAAATATAACCTGTAAGGGAAGCATACATAAATTAAGT GTGAGAATTGGGGGTGGAAAAATGAAGGAAAAAACAATAGCTTACTTTTC TTTCCTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTTCCTC TGTGGCCCAGGCCGGAGTGCAATAGTGTGATCTCAGCTTACTATAACCTC TGCCTCCTAGATTGAAGCAATTCTTGTGCCTAAGCCTCCCAAAAAGCTGG GATTACAGGTATGTGCCACCACACCAGGCTGATTTTTGTATTTTTAGTAG AGACAAGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGGGCTCA AGCAATCCACCTACCTTGGCTTCCCAAGGTTACCAACTTTGGGAATTTGG GAGGTTGCCACCACACCCAGACATAGCTTATTTTTCTACCCTGCATTTCT CTCTACAACCTTCTTAGGAAAAAACTAGATAAGAGACCAGCTATTTTGCT GATCCTCATAAACCCACAGAGGTGTTAGGTAATGACAGAATGGACAGTAC AGTCCTGTGAGACGAGATCTAGGTGAGTTATAGGCAGAAAAAGATAACAT GCTCTCCCTTCCATCAGAATAAAAAAAAACAATGGAAAGGAATAGCTATG TCCCCTGATCAAGAGAAGATCTTAGAGAGGCTATAAAACCAAAACTCTCC TCTTTCCCTCCTGCCAACTGAAAATGTTTGCTTCGCTCTGTGAAAATAAT GTTAATAAAAATGTCTATATACACATATAAAATGTCACTTATAAAAGATG TTAACTATAAAATAGCAGCTAGGGATAAGAGTTCTTAAGTCAAATCCTTA GAATCAATTAATTAGCTCTCCCAAACAAAACAAAACAAAACAAAAAAAGG CCATGGCCGAGCATGGTGGCTGACACCTGTAATCCCAGCACTTTAGGAGA CTGAGGTGGGTAGACGGAGGTCAGGAGTTCAAGACCAGCGTGGCCAACAT AGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTTGCCGGGCATAGA GGTGCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCG CTTGAACCCAGGAGGTGGAAGTTGCAGCAACCTGAGGTTGCACCACTGCA CTCCAGCCTGGGCAACAGAGCGAGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG01106.hp2 others(48): Show HG00423.hp1 HG00558.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01361.hp2 HG01433.hp1 HG02135.hp1 HG02155.hp1 HG02523.hp2 HG02738.hp2 HG03017.hp2 HG03239.hp2 HG03831.hp1 HG04184.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19012.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0024 a0001c0002t0001g0007 a0001c0002t0001g0008 others(45): Show a0001c0001t0004g0024 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0014 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144	51	354	0.1441	-1524	c.828 others(16): Show c.828+325_828+1848del	CCPG1	ENSG00000260916.8	transcript	ENST00000442196.8	protein_coding	7/8			chr15	TogoVar
CCDC127_chr5_191868_223153	211766	TGAGACAG others(1516): Show TGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAATGT GAGCACGCTGAGATGCTCGACATCGCACACTGCAGCCACGACGAGACAGC ACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACACT GATGCTCGACATCGCACACTGCAGCCACGACGAGACAGCACCACACACCC ATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACACTGATGCTCGACA TCGCACACTGCAGCCACGACGAGACAGCACCACACACCCATCAGGATGGG GCAGACGGGACAGCAATGTGAGCACGCTGATGCTCGACATCGCACACTGC AGCCACGATGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGAC AGCAGTGTGAGCACGCTGATGCTCGACATCACACACTGCAGCCACGATGA GACAGCACCACACACCCATCACGATGGGGCAGACGGGACAGCAGTGTGAG CACGCTGATGCTCGACATCGAATACTGCAGCCACGATGAGACAGCACCAC ACACCCATCACGATGGGGCAGACGGGACAGCAATGTGAGCACGCTGATGC TCGACATCGCACACTGCAGCCATGACGAGACAGCACCACACACCCATCAT GATGGGGCAGACTGGACAGCAATGTGAGCACGCTGAGATGCTCGACATTG CACACTGCAGCCACGATGAGACAGCACCACACACCCATCAGGATGGGGCA GACGGGACAGCAATGTGAGCACGCTGAGATGCTCGACATTGCACACTGCA GCCACGACGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACA GCAGTGTGAGCACGCTGATGCTTGACATCGCACACTGCAGCCACGATGAG ACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGC ACGCTGATGCTCGACATCGCACACTGCAGCCACGATGAGACAGCACCACA CACCCATCAGGATGGGGCAGACGGGACAGCAATGTGAGCATGCTGAGATG CTCGACATTGCACACTGCAGCCACGATGAGACAGCACCACACACCCATCA GGATGGGGCAGACGGGACAGCAATGTGAGCACGCTGAGATGCTCGACATT GCACACTGCAGCCACGACGAGACAGCACCACACACCCATCAGGATGGGGC AGACGGGACAGCAGTGTGAGCACGCTGATGCTTGACATCGCACACTGCAG CCACGATGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAG CAGTGTGAGCACGCTGATGCTCGACATCGCACACTGCAGCCACGATGAGA CAGCACCACACACCCATCACGATGGGGCAGACGGGACAGCAGTGTGAGCA CACTGATGCTCGACATCGAATACTGCAGCCACGACGAGACAGCACCACAC ACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACACTGATGCTC GACATCGCACACTGCAGCCACGAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0164 a0001c0001t0164	a0001c0001t0164g0232 a0001c0001t0164g0232	1	406	0.0025	-1523	c.121 others(17): Show c.121+3440_121+4962del	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
TUBGCP5_chr15_22994177_23044569	23043046	TTCACCTG others(1516): Show TTCACCTGGCCAGAGGTGCTGGGGGGTATCATAATCCCACCTGGCCAGAG ATGCTGGGGGGACATCATAACCCCACCTGCCAGAGGTGCTGGGGGGCGGG GGGAACTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGTGACTTCATAA ATGTCACCTGGCCAGAGGTGCTGGGGGGATTTCATAACCCAACCTGGCCA GAGGTGCTGGGGGGACATCATAACCTCACCTGGCCAGAGGTGCTAGGGGG ATATCATAATCCCACCTGGCCAGAGATGCTGGGGGGACATCATAACCCCA CCTGGCCGGAGGTGCTGGGGGGCGGGGGGAACTTCCTAACCCTACCTGGC CGGAGGTGCTGGGGGTGACTTCATAAATGTCACCAGGCCAGAGGTGCTGG GGGGGATTTCATAACCACAGCTGGCCAGAGGTGCTGGGGGAGATTTCATA ACCCCACCTGGCCAGAGGTGCTAGTGGGACTTCATAATCACACCTGGCCA GAGGTGCCAGGAGGACTTCATAACCACACCTGGCCAGAGGTGCTGGGGGG ACATCATAACCTCACCTGGCCAGAGGTGCTGTGGGGGGGTATTATAACCC CACCTGGCCAGAGGTGCTGGGGGGGTCATAATCCCACTTGGCCAGAGGTG CTGTGGGGCCATCATAACCCCAGCTGGCCGGAGGTGCCGGGGGGCGGGGG GAACTTCATAACCCCACCTGGCCAGAGTTGCTGGGGGTGACTTCATAAAT GTCACCTGGCCAGAGGTGCTGCGGGGGATTTCATAACCCCACCTGGCCAG AGGTGCTGGGGGGACATCATAACCTCACCTGGCCAGAGGTGCTAGGGGAT ATCATAATCACACCTGGCCAGAGATGCTGGGGGGCCATCATAACCCCACC TGGCCAGCGGTGCTGTGGGGCCATCATAACCCCACCTGGCCAGAGGTGCT GGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGGGGGATTTC ATAACCCCACCTGGCCAGGGGTGCTGGGGGGACATCATAACCTCACCTGG CCAGAGGTGCTGGGGGGTCATCATAACCCCACCTGGCCAGAGGTGCTGTG GGGCCATCATAACCCCAGCTGGCCGGAAGTGCTGGGGGCTGGGGGAGCTT CTTAACCCCACCTGGCCAGAGGTGCTGGGGGTGACTTCATAAATGTCACC TGGCCAGAGGTGCTGGGGGGGATTTCATAACCCCACCTGGCCAGAGGTGC TAGGGGGACATCATAACCTCACCTGGCCAGAGGTGCTGGGGGGTATCATA ATCCGACCTGGCCAGAGATGCTGGGGGGACATCATAACCCCACTTGGCCA GAGGTGCTGTGGGGCCATCATAACCCCAGCTGGCCGGAGGTGCTGGGGGG CGGGGGGAACTTCATAACCCCACCCGGCCAGAGGTGCTGGGGGTGACTTC ATAAATGTCACCTGGCCAGAGGTGCTGGGGGGATTTCATAACCTAACCTG GCCAGAGGTGCTGGGGGGATATCT	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	351	0.0029	-1523	c.-50 others(11): Show c.-5026_-3504del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3478		chr15	TogoVar
XPO6_chr16_28092976_28216965	28121910	AGGAAATA others(1516): Show AGGAAATAATCTGAGATATGCATAAAGATTTATATACAAGCATATTAACT AAAGCCTTATTGAAGGTGTCAAAAACTTTGAAAACAATATAAATATCCAA CCCAGAGGAGGTAATACAATGCAATATATACAATAAAAACCATGCTTAGA GGCATATTTAATGATAAATATTCAGGATGTTTTAAACATGACATGGTTGT ACTAAATATACATACAGAATACATCGTGAATGTTCATCTATTAACAGAAG ACAGGCGGGAAGAAGTGTCACCAAAATATGCTTATTGGTACCACTTGTTT TAGGGGGAGGATAGAGTGGGTAGATTATGGATGATTTTTTTCCCTCTATT TTTCTGCATTTCCAAATTATCTACAATTAATATATAATGTTTTATAAATG AGGAGAATAAAAAATAGTTCTTAAAAAGCAGGCAGAATGTGGTTGCTCAT GCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGT CCAGGAGTTCAAGACCAGCCTGGACAACAAAGTAGGACCCTGTCTTTTAA AATTTTATCCAGATGTGGTGGCACATGCCTGTAGTCTCAGCTACTTGGGA GAGGCTAAGTAGGGAGGACTGCTTGAGCCCAGGAGGTTGAGGATGGACTA AGCCAGGATCATGCCATTGCACTCCAGCCTGGGTAACAGAACAAGACCAA AATCCTGTTTGTTTGTTTTGTTTTGTTTTGTTTTAAAAAAAAAACTGCTC TTTTGGCAGTTTATCGAAATAGGATGACGTGGGCTTTTCTATAAAATTTG ATAATGATAAAACCATCTTAGCTTTTATTTAAAATCATTTTTAAAAGGAA ATGTTTCAGATGGGTTGATACATAATAAAAAAAATACAGCAAACTGTCCA CCATAGAATCTATGTGGTGGGTATATGTGTATTCCCTGTACAATTCTTTC AACTTTTCTTCAAATTTGAAAATGTTTGATAAAACTTTGGAGGAGGCAGA TGAAAGGAGCAAATGTTTCTAGAATAGGTGGAGGTGTTTTATGTTCAAGT ACAATTCTTTCAGAAGCAAGCTGTTGAGCCCACTGGTTGCTCAAGGGCTC ACTGGATACTAACGAGCATTAAACACAATAACTAATAGCTCTATCTAGTA GGAAATGGGAAATGCCTCTTTCATTACAGACAGGACAACATTCCTTTCTC TCCTCTTTTTTTTGAGAAAGCGTCTTGCTCTGTCAACCAGGCCAGAGGAT TGTAGTGATCTTGGCTCACTGCAGCCTAGACTTCTGGGGCTCAAGTGATC CTCCCGCCTCAGCGCCCCCTCCCATAGCGGGGACTACAGGCGCATGCCAC CACACCCAGCTAAATTTTTTTGTCTTTTTAGTAGAGACAGGTTTCGTCAT GTTGTCCAGGTTGGTCTTGAACTCCTGGACTCAAGCGATCTGCTCACCTC AGCCTCCCAAAGTGCTGGGATTACAGGTGAGCCACCACGCCTGGAGTTGA AAGACATTCCTTTCTGAGTGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	308	0.0033	-1523	c.176 others(18): Show c.1767-1671_1767-149del	XPO6	ENSG00000169180.12	transcript	ENST00000304658.10	protein_coding	13/23			chr16	TogoVar
DOCK8_chr9_209865_470255	320281	CACTCACG others(1515): Show CACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAA ACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGG CTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTG ATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCC CAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCA CGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGA CCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGC TCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGA GATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTT CTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAA AAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAAC ACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAA CCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGC TGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGA CCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCAC GGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCT CAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAG ATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTC TGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAA AGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACA CTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAAC CTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCT GGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGAT CAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCA GGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACG GAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACC GAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTC AAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGA TGGCTGGGCTCAAAACCTGACCG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01169.hp2 HG01192.hp1 HG00140.hp2 HG01169.hp2 HG01192.hp1	a0023 a0051 a0023 a0051	a0023c0142 a0023c0143 a0051c0129 a0023c0142 a0023c0143 a0051c0129	a0023c0142t0001 a0023c0143t0001 a0051c0129t0004 a0023c0142t0001 a0023c0143t0001 a0051c0129t0004	a0023c0142t0001g0168 a0023c0143t0001g0166 a0051c0129t0004g0144 a0023c0142t0001g0168 a0023c0143t0001g0166 a0051c0129t0004g0144	3	256	0.0117	-1522	c.827 others(17): Show c.827+3155_828-3867del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIDR_chr8_47255938_47741306	47546122	AATGGATT others(1515): Show AATGGATTGGGAAGTATTCCCTCCTCTTCTATTTCGTGAAAAAGATTATG GAGAATTGATACTAATTGTTTCTTAAGTGTTTGGTAGAATTCAATAATGA AGGTGTCTGAGCCTGGAGATACCTGTTTGGGAAATTTTGAAATCACAATA CCAATTTACTTAGTAGTCATAGGGCTATTCAAATAATCAGTTTTATATTG GGTGACTTGTGGTAGTTTGTATTTTTTCAAGGAACTGGTTTATTTTACCT AACATGTCAAATTTTGTGTGCAGACTTGTCCATAGTATTCCCTTGTTATC CTTTTGATGTCTACATGGTCTATAGTGATATTCCCTTTTTCACTCCAGAT ATTGGTAATTCACATGTTCTCTGTTTCTTTGTCAGTCTTGCTAGACATTT GTCAATCTTACTGATCTTATCCATGAACCAGATTTGTTTCATGAATTTTC TTCATTTTTTATTTTCAGCTTCATTGATTTCTGCTCTAATCTATTATTTC CTTTTCTCAGCTTGCTGTGGGTTTATTTTGCTCTTGTTTTCCTAAGTTCC TGGAGAGGTAGCCTAGATTGTTGATTTGAACCTTTTCTCGTATACACATC TTTTTAAATTTATTTTTATTAATTATGCCACATTATTTTTAATTATGTAC AAAGATCTAATTTGTCACCAAGAGACCATGTCACCTACTGCTGTGTTTGG CTGCCAGTCTCTTGTCTCCGTCTTCAGCAATGGTGAGGCGTATACGTTTC CTCAGGGAAGAGAAATTAATGGTTTGTTGCCCTTGCCAGTAACAAAAACG TTGGAAAGCCAGGTGGCAAAGCTGTTCCATTGGCATCTTTCACGTGAACC ACATCAAAAGATCAAGGGTGCCTCTCTCTGTGGGTAATGACACCAGTTCT TCCCAAGTTAGCACCTCCAGTCACCATCCACAGGTTACCAGTGTCAAACT TGATGAAATCAGTGATCTTGCCAGTTTCCAAATCAATCTGAATGGGATCA TTCACCTTGATGGAGGGGATCAGGGTAGCAGATGATGCGAGCATCATGAG TCACCAGATGAGGGATTCCTTTTGTGCCCACGAAGATTTTTCTCACTTTG CACAACTTGTACTTGGGCTCCTCAGGTGTAACACGATGTACAGCAAAGCA ACCCTTGGTGTCATAGATGAGACGAAAATTCTCTCCCATCTAGTCAATGC CCATGACATCTATGAATCCAGCAGGGTGGGTTATATCAGTTCGAACGTTG CCATCAATCTTAATGAACCACTGCATGCAAATCTTCTCTTTTTTTGTATA TTTTTAATTTATTTATTTATTTTTGAGATGGAGTCTCGCTCTGTCGCCAG GCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGG GTTTAAGCAATTCTCCTGGCTCAGCCTCGGCCTCCTGAGTAGCTGGGATT ACAGGTGCCCACCACCACGCCCAGCTAATTTTTGTATTTTTGGTAGAGAC ACAGTTTCACCATGTTGGCTAGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp2 HG02965.hp1 others(1): Show HG02615.hp1 HG02723.hp2 HG02965.hp1 HG03486.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0120 a0004c0004t0002g0121 a0004c0004t0002g0122 others(1): Show a0004c0004t0002g0120 a0004c0004t0002g0121 a0004c0004t0002g0122 a0004c0004t0002g0123	4	216	0.0185	-1522	c.109 others(21): Show c.1098-49684_1098-48163del	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGAP32_chr11_128960060_129197325	129037300	CAGCCTAT others(1514): Show CAGCCTATGCAACACAGTGAGACATTGCTACAAAAAACTAACAAATTATC CTGGCACAGTGGCACATGCCTGTAGTACTAGCTACTCAGGAGGCTGAGGT GGAAAGATGCCTTGAGCCCAGGAGTTTGAGGACTTGTGAACTATGATCAC ACCATCGCACTCCAGCCTGGGCAACAAAGCAAGACACTGTCTCCAAAGAA AAAAAATTAAAAATACAAAAGAATATCTAAATAAATGAAAAACATCCCTT GTTCAGGGATTAGAAGACTTAATACTGTTAATAATATTTCCCGAGTTGAT CTACAGGTTCAATATACTCTCTATCAGAATCCCATCCTACTCTGTAGAAA CTGACAAGCTGATTCTAAAGCCATAAGGAATTACAAGGGGCCCAGAAAAG CCAAATCAACCCTTAAAAAGAAGAAAAAAGTAGGATGACTTACACTTCCC CACTGCAAAACTTACTACAAAACAACAGTAATGAAAACAGGGTACTATTG GCATAAGAAAACACATATAGAGACTGGGCACGGTGGCTCATGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGATGTCAGGAGTTTA AGACCAGCCTGGCCAACATGATGAAACCCCATCTCTATCAAAAATATAAA AATCAGCCAGGTGTGGTGGCACACACCTGTAATCCCAGCTACTCCGGAGG CTGAGGCAAGAGAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAACCTGGGTGACAGAGCAAGACTCTGCCT CAAAAAAACGAACAAAAAAAGACATATAAATCAATGGAAGAAAACTGGAA ATTCAGGAATAAATCTAGGGTCAACTGTGTCTAGGGTCAATTGATTTTTC CAAGGGTATCAAGGTAATTCAACAGGAAAGAAATAATCTTTTCAACAAAC AGTGCTAGAACAATTGGATAACCTCATGAAGTTGGACCCCTGCCTCATCA CCATACACACAAATTAACTTTAAAAAATGGGTCATAGACTAATATGTAAC ATCTAAAACTGTAAACCTCTCAGAAGAAAACACAGGAGTAAATCATGACT GTGGGTTAGCCAAAGCCTTCTTAAATAAGGAATCAAAAGCATAAATGACT AAAGAAACATCAAAAGTAAAAACTTGTATGCATCAATGGATACTACCAAA GAAAGTCAAAGACAAACCACAAAACAGGTGAAAATATTTGTAAATCATTA TTATCTGGTAAAGAATTTGTATCTAGAATATATGAGCAACATTTACAACT CACTAAAAAAAACACAAATAACCCAATTAAAAACTGGGCAAAAGTGGGAG GTTGAGGTGGAAGGATCACTTGAAACCAGGAGTTTGAGACCAATCTGGGC AACAAAGCAAGACCTCATCTCTACAAAAAATTTAAAAATTAGCTGGGCAC AGCGGCATGCACGTGTAATGTCAGTCATTCAGCAGGCTGAGTCAGAAGGA TCATTTGAGGCCTGGAGTTGAG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	398	0.0025	-1521	c.104 others(19): Show c.1045+2107_1045+3627del	ARHGAP32	ENSG00000134909.19	transcript	ENST00000682385.1	protein_coding	11/22			chr11	TogoVar
CYP4F11_chr19_15907377_15939529	15932385	GAGAGGAA others(1513): Show GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG CAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGCGAG AAGAGGAATGAGTGAGTGGGC	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0205 a0001c0004t0026g0205	1	386	0.0026	-1520	c.198 others(16): Show c.198+306_198+1825del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
SPDYE1_chr7_43992897_44015124	44000897	GGAAGGAG others(1513): Show GGAAGGAGCGGCACATGGGGTTGAGCAGAGGAGAAAATCAGAAAGATGGC TTAGAGAAGTCAGCAGTCTGCGAGTCTGGGGAGGATGGAGAGTGGTTTGG GGTTTTGGGTCGGGGTCTAAGGTGATCAGATGCAGAAGCATTACACAGTG GCCTGGTTTCTTTACTCAGCCCCTGGGGTAGATCCCAGCCCCCCATGTAG GTCCCTTGGCTGGAAAAGGAAGAGGGAGTGGTCAGATGAATCTGAGGAGG AGCCGGAGAAGGAGCTCGCCCCTGAGCCTGAGGAGACCTGGGTAGTGGAG ACGCTGTGTGGGCTCAAGATGAAGCTGAAGCAACAGCGAGTGTCACCCAT CCTCCTTGAGCACCACAAGGACTTCAACAGTCAGCTTGGTAGGAGGACAC CCCAGAGAGCACCTCCAATCCTGTTCTTTCTAAAAAGAGGAAACTTCCAA TAACCACACTTTTCCAATGGGAAAGATACGCCCCCAGTGGGTGAGATCTC CACGCAGGAGGACTCAGAAGTGATCACTCATGAGGGACACTTAGGAGACA ATAGAGGACTAGGCTAGACTTGATAAAGGTTGGCGCTTGGGATGAGAAAG CTTGGTTTCGGGCTAGGTGCAGTGGCTCACGCCTGAGATCCTAGCACGTT GGGAGGCTGAGGCAAGAGGACTGCTTGAACTCAGGACTTTGAGGCTGCAG TGAGCTATGACTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAAACC CTGTGTCAAAAGAAAAACGAAGGCCGGGTGTGGTAGCTCATGCCTGTAAT CCCATTACTTTGGGAGGCTGAGATGGGTGGATCACTTGAGGTCAGTTGTT CGAGACCAACCAGACCAATATAGCGAAACGTCATTTATACTAACGATACA AAAATTAGCCAGGCATGCCTGTTATCCCAGCTACTCGGGAGGCTGAGACA GGATAATCGCTTGAACCCAGGTGGAAGAGGTTGTTTTGAGCCAAGATAGT GCCACTGCATTCCATTCTGGGTGAGAGAGTGAGACGCTGTCTCAAAAAAA AAAAAAAAAGAAGGAAGGGCGGGCCCAGAAGTCAGGAAGGAGCACGTGAG GAGGGTGTGTGGGAAGAATGGAGGTACTGAGGCAGGGTTCAGTGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAGGCAGGCAGATCACTTGAGGC CAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTTCTA GAAGCACAAAAATGAGCTGGGCGTTCTGGTGGGCACCTGTAATCCCAGCT ACTTGGGAGGCTTAGGCAGGAGAATCACTGGAACCCAGGAGGCAGAGGTT GCAGTGAGCCAAGATCGCACCACTACACTCCAGCCTAGGCCACAAAGCAA GACTGTTTCTCAACAACAACAACAAAAAAAAAAAAAAAAAAAAAGGGACT CAGAGAGCCAGGGACCAGGGAAGGATATGAGGAAGTGTTCTGAGGACAGA GAAACGGGAGAATGGGGAGGA	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01358.hp1 HG01358.hp1	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0001 a0015c0016t0001	a0015c0016t0001g0118 a0015c0016t0001g0118	1	394	0.0025	-1520	c.161 others(15): Show c.161-151_380-156del	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr7	TogoVar

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