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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
BRWD3_chrX_80664503_80814877	80712568	CACCCTGT others(1206): Show CACCCTGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCTGCCCATCGTCTG GGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGC GTCTCTGCCCAGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCC GGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCTGCCGCCCCGT CTGGGATGTGAGGAGCATCTCTGCCCGGCCGCGACCCCGTCTGGGAGGTG AGGAGCGTCTCTGCCCAGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCG CCTGGCAACTGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCC GCCCCGTCTGAGAAGTGAGGAGCTCCTCCGCCCGGCACCCACCCCGTCTG GGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGT GGGGGGGCCAGCCCCCCGCCCGGCCAGCTGCCCCGTCTGGGAGGGAGTTG GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCACCACCCCGTCTGGGAGGTGTACCCAACAGCTCATTGAGAACGGGCCA TGATGACAATGGCGGTTTTGTGGAATAGAAAAGGGGGAAAGGTGGGGAAA AGATTGAGAAATCGGATGGTTGCTGTGTCTGTGTAGAAAGAAGTAGACAT GGGAGACTTTTCGTTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGG ATCCTGTTGATCTATGACCTTAACCCCAACCCTGTGCTCTCTGAAACATG TGCTGTGTCCACTCAGAGTTAAATGGATTAAGGGCGGTGCAAGATGTGCT TTGTTAAACAGATGCTTGAAGGCAGCATGCTCCTTAAGAGTCATCACCAC TCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCGCAGGG TCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGA CCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGA GACACCCAAGAATGATCAATAAAAAAATAAAAAATAAAAAAAACAAATAA TAAATCTTAGATTACTTCTAACAACAGAAGGGAAAGGACTCAAAACAATC TACATACAAAAAGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03130.hp1 HG02280.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0123 a0001c0001t0008g0126 a0001c0001t0008g0123 a0001c0001t0008g0126	2	265	0.0076	-1213	c.232 others(19): Show c.2325+2376_2326-2992del		BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	20/40						chrX	TogoVar
ROBO2_chr3_77035099_77654964	77294550	AAGACATA others(1206): Show AAGACATAAAGTAAAATTGACGGTTAAACAGGTAAGCTGAGGCTAGATCA TCAAAGACATAAAGTAAAATTGACGGTTAAACGGGTAAGCTGAGGCTAGA TCACCCCAGACATAAAGTAAAATTGATGGTTAAACGGGTAAGCTGAGGCT AGATCACCAAAGACATGAAGTAAAATTGATGGTTAAACGGGTAAGCTGAG GCTAGATCACCCCAGACACAAAGTAAAATTGACGGTTAAACGGGTAAGCT GAGGCTAGATCACCCCAGACATAAAGTAAAATTAATGGTTAAACGGGAAG TTGAGGCTAGAACAGTAAAGACATAAAGTAAAATTGACAGTTAAACAGGT AAGCTGAGGCTAGATCACCCCAGACATAAAGTAAAATTGATGGTTAAACG AGTAAGCTGAGGCTAGATCACCAAAGACATAAAGTAAAATTGACGGTTAA ACGGATAAGCTGAGGCTAGATCACCAAAGACTTAAAGAAAAATTGATGCT TAAACGGGTAAACTGAGGCTAGAGCACTAAAGACATAAAGTAAATTTGAC GGTTAAAAAGGTAAGCTGAGGCTAGGTCACCCCAGATATAAAGTAAAATT GACGGTTAAACGGGTAAGCTGAGGCTAGATCACTAAAGACATAAAGTAAA ATTGACGATTAAACGGTAAGCTGAGGCTAGATCACCAAAGACATAAAGTA AAATTGACGATTAAACGGTAAGCTGAGGCTAGATCACCAAAGACATTAAG TAAAATTGACGGCTAAACGGGTAAGCTGAGGCTAGATCACCAAAGACATA AAGTAAAATTGATGGTTAAATGGGTAAGCTGAGGCTAGAGCACTAAAGAC ATAAAGTAAAATTGATGGTTAAATGGGAAGTTGAGGCTAGAACAGTAAAG ACATAAAGTAAAATTGACGGTTAAATGGGTAAGCTGAGGCTAGATCACCC CAGACATAAAGTAAATTGACGGTTAAATGGGTAAGCTGAGGCTAGATCAC CAAAGTCATAAAGTAAAATTGACTGTTAAACGGGTAAGCTGAGGCTAGAT CACCCCACACATAAAGTAAAATTGACGGTTAAACGGGTAAGCTGAGGCTA GATCACCCCAGACATAAAGTAAAATTGATGGTTAAACGGGAAGTTGAGGC TAGATCACTAAAGACATAAAGTGAAATTGACGGTTAAACGGGTAAGCTGA GGCTAGATCACCCC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0102 a0001c0002t0032g0102	1	160	0.0063	-1213	c.389 others(21): Show c.389-182844_389-181632del		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
STARD13_chr13_33098137_33290755	33161841	TAAAGGCC others(1206): Show TAAAGGCCCTTCTTACATGGTGGTGACAAGAGAAAATGAGGAAGATGCAA AAGCGGAAACCCCTGATAAAACCTTCAGATCTTGTGAGACTTATACACTA CCACAAGAACAGTATGGGGGAAACTGCCCCCCATGATTCAAATTATCTCC CACCGGGTCCCTCCTATAACATGTGGCAATTATGGGAATACAATTCAAGA TGAGATTTGGGTGGGGACACAGCCAAACCATATCATTCCACCTCTTGCTC CTCCAAATCTCATGTCCTCACATTTCAAAACCAGTCATGCCTTCCCAACA GTCCCCCAAAGTCTTAACTCATTTCAGCATTAACCCAAAAGTCCATAGTC CAAAGTCTCATATGAGACAAGGCAAGCCCCTTCTGCCTACGACACAGGGC ACCAAGTGCCTAGGCTGCAAACAGATAAGGACCCTGGGCCTGGCCCATGA AACCAGTTTTTCCTCCTAGACTTCCAGGTCTATGATAGGAGGGACTGCTG TGAAGACCTATGACATGTCCTGGAGACATTTTCCCCATTGTCTTGGGGAT TACCATTTGGCTCCTTGACACTTATGCAAATTTCTTCAGCCAGCTTGAAT TTCTCCTCAGAAAATGTGTTTTTCTTTTCTACTGCATCGTCAGGCTGCAA ATTTTCTGAACTTTTATGCTCTGTTTCCTTTTTAAAATGGAATGCCTTTA ACAGCACCCAAGTCACCTCTTGAATGCTCTGTTTGCTGCTTAGAAATTTC TTCTGCCAGATACCCTAAATCATCCTTTCAAGGGCAGGGGCAAAATGCCA CCAGTCTCTTTGCTAAAACATAACAAGAGTCACCTTTGCTCCTGTTCCCA AGAAGTTCCTCATGTCCATCTGAGACAACCTCAACCTGGACTTTATTATT CATATCACTATCAGCATTTTTTTTTTTCAAAGCCAATCAACAAGTTTCTA GGAGGTTCCAAACTTTCCCACATTTTCCTGTCTTCTTCTGAGCCTTCCAC ACTCTTTCAACTTCTGCCTGATACCCAGTTCCAAAGTTGTTTCCACATTT TCAGGTATCTTTTCAGAAACACCCCACTCTCGGTACCAATTTATTGTATT AGTCCATTTTCACACTGCTGATAAAGACATACCCAAGACTGGGAAGAAAA AGAGGTTTAATTGGACTTACAGTTCCACATGGCTGGGGAGGCCTCAGAAT CATGGCGGGAGGCA	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	302	0.0033	-1213	c.323 others(17): Show c.323+2283_323+3495del		STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	3/13						chr13	TogoVar
UNC119B_chr12_120705458_120728640	120714377	GTGGCACA others(1206): Show GTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGCT TCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGTGCCCACCACCA TGCCTAGCTAATTTCTGTATTTTTAATAGAGACGGGATTTCACCATGTTG GTCAGGCTGGTGTCAGACGCCTGACCTTTGATTCGCCTGCCTTGGTCTCC CAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCTGGTTGCTTATGGG TAGTTTTTTATTGGGATGGTCAGATCAAGACCAGCTAGCTTCCTGGGTCT GTGGTGTTCTCATCTCTAAGCCACATATCACAGTACCTGGGACATTGCAA GGACTCCAGGCCTACTACAGGTATGTGGATTTGGATTAGACTCAAGAGTT GTCATTTCAATATAAGACGGAACTGTTTCAAGAAGGTCAGCTGAAGATAC TGTAAAGTATCTTGGTTTTCAGTCTCTCTAGTTTTTACATTTAAGGATCT TGATTCACTTGTAATATTCCCCACATTGAGGCTGGGTGCGGTGGATCACA CCTGTAATTCTAGCACTTCGGGAGGCTGAGGCAGGCAGATCACTTGAGCC CCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCCATCTGTACA AAAAATACAAAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGGTCCCA GCTACTCAGGAGGCTGAGGTGGAAGGATGGCTTGAGCCTGGGAGATCAAG GCTGCAGTGAGCCGTGATCACTGCATTGCACTCCAGCAAAGGTGACAGAG TGAGACCCTATCTCAAAATAAATCAATAAATATAAACAACAGATTATCCT CACACTGAATCACTACCTTTCTGCAGCACTTGTTCTGATGAATTTGAATC CCCAAGATTTGCTGTCTCTCTGAGTCACATTGTTGGAGCCAGGGTTTTAG AGTCTCTGGGGGTGAACCCCTACTCAGCCTGGTTGCCCAGTCGCTCTTGG GCTTGTCAAAAGCAGAGATGTTTGATGCTGAAAAAGTCTTCTCTTATGTT GTACTCATGTACAGCTTAGACCTGGAGAAAATATCCTCACTGGACACTGG AGGGTACTAACTCCTATTCACATTAGAATGCTTGTTCTCTGATTCTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCC AGGCTGGAGTGCAA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0045 a0001c0001t0019g0045	1	398	0.0025	-1213	c.358 others(17): Show c.358+1002_359-1027del		UNC119B	ENSG00000175970.11	transcript	ENST00000344651.5	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
S1PR4_chr19_3173769_3185332	3174555	TCTCATGG others(1205): Show TCTCATGGGACGCCTGTGCCCCTCATGGGACGCCTGTGCCCTCATGGGAC GCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACGCCTGTGTTCT CATGGGACGCCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCT GTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCTCATGG GACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCC CTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGC CTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACGCCTGTGTTCTCA TGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGT GCCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGG GACACCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTT CTCATGGGACGCCTGTGCCCCTCATGGGACGCCTGTGCCCTCATGGGACG CCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACACCTGTGTTCTC ATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTG TGCCCCTCATGGGACACCTGTGTTCTCATGGGACGCCTGTGCCCTCATGG GACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACACCTGTGT TCTCACGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACG CCTGTGCCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCT CATGGGACACCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCT GCGTTCTCATGGGACGCCTGCATTCTCATGGGACGCCTGTGCCCTCATGG GACACCTGTGTTCTCATGGGACACCTGTGTTCTCATGGGATGCCTGTGCC CTCATGGGATGCCTGTACCCCTCATGGGACGCCTGTGTTCTCATGGGATG CCTGTACCCTCATGGGACGCCTGTACCCCTCATGGGACATCTGTGCTCTC ATGGGATGCCTGTGCCCCTCATGGGATGCCTGTGCCCTCATGGGACGCCT GCATTCTCATGGGACACCTGTGCCCTCATGGGATGCCTGTACCCTCATGG GACGCCTGTGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG03540.hp1 HG01515.hp2 HG01517.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	418	0.0072	-1212	c.-42 others(11): Show c.-4237_-3026del		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					4213		chr19	TogoVar
SERPINB12_chr18_63537369_63574329	63548922	CTGAAGAA others(1205): Show CTGAAGAAATAATATGAAGGGAGATAAAAGCTATATTTATGACAATGTTT ATCGTAGAATTATTCATATTAATAAAAACTGGGAAGCTAATTTAAGTATC TAGCAATATGATGTTAGTTTAAACATTTAGATAAGTCAGTATAATGAGAT ATTATAAGGCCATTAAAAGAACATCTATGAAGACAGTATTAGGATAAACA CTTAAGATGCAATTTGAAGTGAAAACAAGTGAACATAAAATGTTCATATA AACAGGCACGTACACACACATCAATGCAGTGATTGAGAGATTGGAAAGCA CACGGAAAAATAAAGGCGATTTATTTTTCAGTATTGTGAGGGCAAAATTC CTCATTACTATTATTCTGCCATCTGTATAACAAATTAGACCTTGAGAATA AAATTCCTTCTTCTACTTCATTAGAAGTTAAATCGTGAATCCCTTACTTG GAAAATATTATAGGCAAAAATATGATAGTATTTGTATTGATATAAAATGA ATTTTTTTCTTTTTCTTCTGACTAAGAACTGCTTATCTTCTCTTTCCTAT ATAGCTATGGTCAGTAGGAGGTGACATTGTGGATAGTACATGGGAGCTAT CATGTAAGTCACTCCCAATTAGGCTACGATTGTTTGCAATCTATTTAGGA TACATTTGCACAGATTTCAATGCAATTTGAGAAGGATTTTTTGAGTAATT TTTCAGTCTAGAGAAGCAACCCCCATAAAGATTGTAGGAATCTTTGGAGG ACAAACTGGAGCTTGAGATGTGCCTTCCAGAGAGGGAGTTCACGGCCGTC CTGAGATGGACTCTCAGTGCTAGGAGGTCCTTTCTACAACCAGTGGTCTT GGTAAGAGACACAAACAAGACATGGACCTGCTGGTGACATCTGCATCCCA CAGAGCCACATGGTGGTCACTCAGGACATGGCTTTTGTGAGCACAAGTGT TATCTGCTCCAGAGGGTGGCCTGGTATAGGAGGAAAGAGGTAGCTTTGAA ATCACACTGAAAGAACTGATTTGCACACCACTTGTGCCACGTAGTGGTTG GAAGTACAATGAAAATTATTTCTAACTTACAGGATTTTTTGAAAAATAGA GACAATATTTGTGAAATGCCAGACATATCACAAGCTCAAACTGAACAGTA GCTATTAGTAGTATAACATCATTGTGGATAGAGTTAGCACCAATTACTTA AGCTGAATGAATT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	402	0.0025	-1212	c.-19 others(17): Show c.-19+6432_-18-6007del		SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393179	GGGGGCAG others(1205): Show GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGT GGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGG AAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0267 a0001c0001t0044g0267	1	346	0.0029	-1212	c.181 others(21): Show c.1811-14088_1811-12877del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
PDE1A_chr2_182135041_182432036	182225673	TTTTGGGT others(1204): Show TTTTGGGTTAATGTATGCACTGCACCTATCATGTCTTGTCATATGGTAAA ATAAAGAATAAATGGCATTTTGCTAGGAACTTACTATGTTAAATGAATTG ATAAAGGCATTAAATCTGGGAAATAATAGCTAACATATCATTAGTGATTG TAATTCATGTACAAATGCCTCACAACTGGATGAGTGAAGCAGAAATAATT TTCAGAGCCAAAAGAAGTTAATATAACTAGCTGTTCTGTGTTCATAGACA CATTTAATTGTGAGTCATTAAAAGGAAGAAAGTTACCTTATAGAGGTCTG AATTGGGATTGAGCCTCCAATGTTCCCAATGAAACTATGGAACTAAACAC CATGAAATGAATAGCAATTGAAGTTAAACTAGTTTTGTACCCTAGAAACC CATTGTTTTATTAAAGAAAATGGAAAAAAACCACTTATTTAAATTTTTGA GTGGGTTCAAATTATGTATTTATAAATATAGCTGTGGTTTTAAAAAAGGC AGCATTCATTATCTACTATGATAACACAGAATATAAACTGTCAATAGTAA AAAGAAATTAAATTAGAAAATCAGAGATGGAATTAATTAGTGATTGACTC ATAAATATTTACAATTATTATCTTGCTAGCTGTGAAAATTTATTATAAAT ACATTTCCTGTTTTTACTTTGGTTCATTTCTGCCTCCCATAAATAGTACT TTCTCCACAAATCCCCCTTACTTATTTCTGCACTATGGACTATATCATTA AGTTCCACTACAAACTAATATAGGAAGAGAGGAAACACTGAACTTTCACA CTTAATTTAAAAACACATCTACTTTGCATTAGCAAAAGTAGAATTCTGGA CTGATTGTTAGTTCCTTAGCTGCTGATTCATTTTGTGCTGGTATCAGAAG GAATTCTAACTCAGAAAACAGGTGCTTAAATTCATAAATTTTATAAATGA CTCCTGAGGGCAAGCCAGAGAGAACGAGGTTAAATCCTGTCACTCTTCCC AACTACAGCACTGGTCAATACAAATCCAAGGTTCTTCTGATTCCTAATAG GCAGAAATAAAGGGTTAAGAGGATAAATCATGAGCAATGCAACACTGTAT TTCATCAGAATTTTAGGTTGTATTTTGTCTGCAGAAATGCTCAGGTTGGC TTACTCTAGAGCGGGCAGTCATCAACTTATAAGGAGGTATTGACTGCTAT TAATAACATGTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02622.hp1 others(10): Show HG02055.hp1 HG02109.hp1 HG02622.hp1 HG02630.hp2 HG02818.hp1 HG02895.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0023 a0001c0001t0026	a0001c0001t0002g0232 a0001c0001t0004g0091 a0001c0001t0006g0017 others(10): Show a0001c0001t0002g0232 a0001c0001t0004g0091 a0001c0001t0006g0017 a0001c0001t0006g0022 a0001c0001t0006g0024 a0001c0001t0006g0244 a0001c0001t0006g0263 a0001c0001t0008g0105 a0001c0001t0009g0236 a0001c0001t0009g0242 a0001c0001t0011g0052 a0001c0001t0023g0124 a0001c0001t0026g0005	13	264	0.0492	-1211	c.676 others(17): Show c.676-2920_676-1710del		PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	6/14						chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46169743	CCCCTGCT others(1204): Show CCCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCCCCTGCTCTG TGAGCATCCTCTGTGGATGGGGAGGAGCCCCTGCTCTGTGAGCATCCTCT GTGGATGGGGAGGAGCCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGA GGAGCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCCTGC TCTGTGAACATCCTCTGTGGATGGGGAGGAGCCCCCTGCTCTGTGAGCAT CCTCTGTGGATGGGGAGGAGCCCCTGCTCTGTGAGCATCCTCTGTGGATG GGGAGGAGCCTCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTC CTGCTTTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCTGCTCTGTGAG CATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTG GATGGGGAGGAGCCCCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGA GCCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTC TGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCCTGCTCTGTGAGCATC CTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGTCC AGGAGGAGCCTCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCT CCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGT GAGCATCCTCTGTGGTCCAGGAGGAGCCTCCTGCTCTGTGAACATCCTCT GTGGATGTGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGTCCAGGA GGAGCCTCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCTTCCCT GCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCCTGCTCTGTGAA CATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTG GTCCAGGAGGAGCCTCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGA GCCCTCTGCTCTCTGAACATCCTCTGTGGATGGGGAGGAGCCTCCCTGCT CTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCCTGCTCTGTGAACAT CCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAACATCCTCTGTGGAT GGGGAGGAGCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02970.hp2 HG02055.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0186 a0001c0001t0011g0187 a0001c0001t0011g0186 a0001c0001t0011g0187	2	251	0.0080	-1211	c.194 others(17): Show c.194-2296_194-1086del		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4						chr21	TogoVar
DLGAP2_chr8_732628_1713476	1013905	TGACCAGG others(1203): Show TGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGCC TCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCA GGACAGACGGCGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCAC TGTGTGTGTGACCAGGACAGACGATGCCTCCACTGCGTGAGACCAGGACA GACGATGCCTCCATTGTGTGTATGACCAGGACAGACGACGCCTCCACTGT GTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAG ACGGCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTG TGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACG ACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGT GTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCT CCATTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACC AGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCAC TGTGTGAGACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACA GACGACGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGT GTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGG TGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGCGTGTG TGACCAGGACAGACGGTGCCTCCACTGTGTGAGACCAGGACAGACGATGC CTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGA CCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCC ACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGA CAGACGGCGCCTCCACTGTGTGAGACCAGGACAGACGGCGCCTCCACTGT GTGTGTGACCAGGACAGACGCCTCCACTGTGTGTGACCAGGACAGACGAC GCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGT GACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGCCT CCACTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0036 a0001c0012t0004g0036	1	40	0.0250	-1210	c.73+ others(19): Show c.73+105955_73+107164del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137565750	ACTCTGTC others(1203): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGA TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA20300.hp2 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0058 a0001c0001t0001g0012 a0001c0001t0001g0058	2	340	0.0059	-1210	c.641 others(16): Show c.641-1806_641-597del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
SDC2_chr8_96488813_96616790	96508477	AGCAAGAC others(1203): Show AGCAAGACTCCATCTCAAAAAAAAGAAAAAAAAAGATTATTGGTTTATAA ATTTTATCATAACACAAATGTATTTGAGTCAAGCTTTTTCAGAAAAATAA GTCTGTGAGATATTTTTAAGGAAAGAATTTTATTAAAAGGCAGTAACATT AAAAATTACCATTACCACAGCCTTCTCCTACTATAGATAGGCATTTTCCA TTCATTGTCTATAACTGTCTCACAACTGCTAGGCGGTATTACTTGCCAAG GCTGCATTTTATGTGGCCCAGCACAAGTTAGAGCCTCAGTTTTTCTAGCT TTAAATAGTCTTTCTATGATACTGTAATCTTTCAAGAGAGCAGTGAAAGT GTCTAACTGTATCACCAACTGTTTAATGTAGTCCAATGGGTACAACCCTG GATCATGAAGTGTCTAATGGTTGCAGCCTCAAATCATGAAGTATCTAATG GATGGTTGCAGCCCCGAATCATGAAGTGTCAGAATCTTCCTTTTCATTGG TTGGCCTAATCTTCCAGGTCACTGATATTCTGATTTCTTTACCAACTTTT AGCATATTGCTTTAATGGCTTCTCTCTGCAAACTTCAGTCTGGTAATGGG AGAACTAAGAGGTAGAATTAATGGAACCTCTCTAAATCTCAGCTCTGCCA ATTTCTGGACTTGGGCAGGTGATTTAACCTCTCTATGCTTCCATTTTCAC ATCTGTATAAAGGAGATTAGTCATAGTAGCCACCTCATAGAGGTGTTGTG AGGGCTAATGCCTTAATTAATGGGTGTCAAGCAGTAATAAGAGTGCGCAG GATAGAGCCTGCGCTAGACTCTCAGTGTTGATGATGATTGAAATGGACAG CTAATTGGATGTACTGACCAAAGAAGACAGTGTCAATAGTCTTTTGAGGT TTTGAACATGAGGCAGAGAAGACTGATGGTGCCACTGACCAGATCAGGAG GACAGACCGATTTTTTTCCTCTTCTTTTTGTGGCTCTTGTGTTTTGGTGA AAGGAGGAGGCATTTTGGTTTCTCTAGGTTTTCCATCTGGGTAGTGGAGG GCATATTCTCCATCACGGGTTTTCAGCCCTTGCTGCCGATTACATAAACT TGGGGAGCTTTTAAAAACTATTCATGCCTTGGCCCCACTCCAGACAATTA AATCAAAATCTATGTGGTTGGGGTCCAGCTCCCTGTGAAAGCTTATTCTC ACTTCCAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(46): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01123.hp1 HG01169.hp2 HG01243.hp2 HG01257.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01943.hp1 HG02004.hp2 HG02055.hp2 HG02083.hp2 HG02148.hp1 HG02280.hp1 HG02683.hp1 HG02717.hp2 HG02895.hp1 HG03017.hp1 HG03098.hp2 HG03540.hp1 HG03834.hp2 HG04204.hp2 NA18941.hp1 NA18956.hp2 NA18967.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp2 NA19030.hp1 NA19063.hp1 NA19067.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0003t0001 a0002c0002t0001 a0002c0002t0003 a0002c0005t0004 a0003c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0033 others(46): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0237 a0001c0001t0004g0031 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0056 a0001c0001t0009g0029 a0001c0001t0009g0030 a0001c0001t0013g0049 a0001c0001t0014g0057 a0001c0003t0001g0032 a0001c0003t0001g0034 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0042 a0001c0003t0001g0050 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0059 a0002c0002t0001g0025 a0002c0002t0001g0035 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0071 a0002c0002t0003g0231 a0002c0005t0004g0048 a0003c0004t0001g0007 a0003c0004t0001g0061 a0003c0004t0001g0066 a0003c0004t0001g0067 a0003c0004t0001g0068 a0003c0004t0001g0069	49	334	0.1467	-1210	c.60+ others(17): Show c.60+14149_60+15358del		SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
TUBGCP2_chr10_133273635_133313872	133291252	ATGTCCCT others(1203): Show ATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAG CCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTC CCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTAC CTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCG TGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTAC GGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCC CGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGA GGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTC CCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAG CATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCG TGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCG CCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCC CTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTC CGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCG TGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCA CCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTC CCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCC TCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCT GTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTG TCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCA GCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGT GTCCCCCGTGTCCCTCCGTGTCCCCCGTGTCCCCGTGTCCCGGGGAGCCC TACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCATGTCCCT CCGTGTCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18612.hp1 NA18943.hp1 others(3): Show HG00621.hp1 NA18612.hp1 NA18943.hp1 NA19004.hp2 NA19010.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0148 others(3): Show a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0206 a0001c0001t0004g0147	6	284	0.0211	-1210	c.121 others(17): Show c.1214+37_1214+1246del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291266	CCCCCATG others(1202): Show CCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGG GAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCG TGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGG GCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCC TCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCA TGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTG TCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACC GTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGT GTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCC GGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCGCCCTCCGTGTCCCC CATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGA GCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGT CCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCC GGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCC CATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCC GTGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCAT GTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGC AGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCC GTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCG TGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCC CTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCC TCCGTGTCCCCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAG AGGGCAGCATGCACACTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGT CCCTCCGTGT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA21309.hp1 HG02523.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0001c0001 a0002c0016	a0001c0001t0001 a0002c0016t0002 a0001c0001t0001 a0002c0016t0002	a0001c0001t0001g0133 a0002c0016t0002g0076 a0001c0001t0001g0133 a0002c0016t0002g0076	2	284	0.0070	-1209	c.121 others(17): Show c.1214+24_1214+1232del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
DPH7_chr9_137549444_137583925	137565804	GGGGTGAC others(1201): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	340	0.0029	-1208	c.641 others(16): Show c.641-1858_641-651del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
HS2ST1_chr1_86909635_87114982	87057750	CTGAGGCA others(1201): Show CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCT GAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCT CAAAAAAAGAAAAAGAGAGAGAAAAAAAACTGTATTTTTTGTCTTAAGCT AAACAAATACATCTGGGTGAAACTGAATAAAATAGGATTGTGGGAGAATA AGTAGGCATCCTACTCCCTTCCTCCCACCCAGTTGTTACTGGCCTGCTTC TCTCTCTATTTCTGCTTCTTTCGATTTTGTTTTAGCCTCGGGGTGAGTGG GTGGAGGGAGTCCAAAAACACATCTGTACTGTAGAGGAGAAATTGATAGC ATAGCTTTATGGAACTTATCTCAGGGTTATGCAATCCAGAGGTCCCCTGA TTTCAGCTCTCATCAGTGCAGGAATCCTTTTTCCATCATTCTTTGACAGG TCCTCATGCAACCTCTATATGAGTATCTCCAGAGACTAATAACTTACCAC CCCCTAAACTGCCTGTGTCTTTACTTTGCACTACTAATTATTTGAAAGCC CGTTCTCTCTTGAGCCACAGTCATATCTTTTTTTCTGGAGTAATGCTACA AAAAGGATTCTGCCTCTTTTTCACAATAACTTTTCAAGTATTTCAAGAGA CTGTTAGTCATTTTTATGGATTTTCTCTTAGCTAAGTGCACTGTTTTGTT TTGTTTTTTTTTAAGTTTTTTATGTGGCATGATCCATCCAGCTCATTCCC ATTCTGGAGTACTCTAGCTTTTAACGTGTGCCTGAAATGACACATAATAG CCCTGTGTGACTAAATACAAATTTCTTAGGAACTGTTCCTTCCTGTGACT TGAAACATTAATTACTGTGTTTTGGTTAGGAGTATAAGCTTTGGTATCAG ACAGATGAGGGTGTGAATTCTGACTTTTTTCCCCTGTAATTCATATCTCT GAGTCTAAATTCCGTAATGTTACCATATAGGATTATTGCAAGAATTAGGT GAAGTAATGTACATTTAAACATGAACCGTTGGCTGGGTGCGGTGGCTCAC GACTGTAATCCTGGCACTTTGGGAGGCCGAGGCGGGGAATCATGAGGTCA GGAGATCAAACCATCCTGGCTAACATGGTGAAACTCCATCTCTACTAAAA ATACAAAAAATTAGCCAGGCGTGGTAGCAGGTGCCTGTAGTCCCAGCTAC TCGGGAGGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	1	154	0.0065	-1208	c.125 others(19): Show c.125-15158_125-13951del		HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
UNKL_chr16_1358205_1419704	1372851	TACACTGC others(1201): Show TACACTGCACAGAGACCTCAGCAGCGTGGAGCACACCACACAGGGACTGC CGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGG ACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACA CAGGGACTGCCGGCCAACACCGCAGAGACCTCAGCAGCGTGGAGCACACC ACACAGGGACTGCCGGCCTACACCGCACAGAGACCTCAGCAGCATGGAAC ACACCACACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCAT GGAACACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGC AGCATGGAACACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACC TCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAG AGACCTCAGCAGCGTGGAGCACACCACACAGGGACTGCCGGCCAACACCG CACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGGACTGCCGGCCAA CACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGGACTGCCG GCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCGCACAGGGAC TGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACA GGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACC GCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGC ACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGT GGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGC AGCGTGGGGCACACCGCACAGGGACTGCCGGCCTACACCGCACAGAGACC TCAGCAGCGTGGAGCACACCACACAGGGACTGCCGGCCAACACCGCACAG AGACCTCAGCAGCATGGAACACACCGCACAGGGACTGCCGGCCAACACCG CACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAA CACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCG GCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGAC TGCCGGCCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(224): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp2 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0003 a0001c0004 others(21): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0027 a0001c0028 a0002c0002 a0002c0007 a0002c0010 a0002c0015 a0002c0019 a0002c0020 a0003c0005 a0005c0016 a0006c0018 a0007c0021 a0008c0022 a0009c0023 a0010c0025 a0011c0026 a0012c0024 a0013c0029 a0014c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(68): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0025 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0049 a0001c0001t0052 a0001c0001t0056 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0003t0010 a0001c0003t0012 a0001c0003t0013 a0001c0003t0026 a0001c0003t0046 a0001c0003t0067 a0001c0004t0001 a0001c0004t0036 a0001c0004t0045 a0001c0008t0027 a0001c0009t0024 a0001c0009t0043 a0001c0027t0019 a0001c0028t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0016 a0002c0002t0023 a0002c0002t0031 a0002c0002t0033 a0002c0002t0048 a0002c0002t0057 a0002c0002t0062 a0002c0002t0069 a0002c0007t0003 a0002c0007t0020 a0002c0007t0044 a0002c0007t0051 a0002c0010t0001 a0002c0015t0063 a0002c0019t0008 a0002c0020t0001 a0003c0005t0003 a0005c0016t0012 a0006c0018t0001 a0007c0021t0047 a0008c0022t0016 a0009c0023t0050 a0010c0025t0003 a0011c0026t0004 a0012c0024t0035 a0013c0029t0002 a0014c0017t0003	a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0033 others(224): Show a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0219 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0283 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0195 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0247 a0001c0001t0002g0252 a0001c0001t0002g0260 a0001c0001t0002g0270 a0001c0001t0002g0294 a0001c0001t0003g0017 a0001c0001t0003g0256 a0001c0001t0003g0274 a0001c0001t0003g0292 a0001c0001t0004g0079 a0001c0001t0004g0103 a0001c0001t0004g0169 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0287 a0001c0001t0004g0306 a0001c0001t0005g0175 a0001c0001t0008g0265 a0001c0001t0010g0061 a0001c0001t0010g0180 a0001c0001t0013g0019 a0001c0001t0013g0020 a0001c0001t0013g0021 a0001c0001t0014g0286 a0001c0001t0014g0288 a0001c0001t0014g0289 a0001c0001t0014g0290 a0001c0001t0015g0068 a0001c0001t0015g0088 a0001c0001t0015g0156 a0001c0001t0015g0158 a0001c0001t0016g0155 a0001c0001t0016g0157 a0001c0001t0018g0213 a0001c0001t0018g0255 a0001c0001t0018g0273 a0001c0001t0019g0187 a0001c0001t0022g0249 a0001c0001t0022g0250 a0001c0001t0025g0304 a0001c0001t0025g0305 a0001c0001t0037g0152 a0001c0001t0038g0163 a0001c0001t0041g0205 a0001c0001t0042g0303 a0001c0001t0049g0094 a0001c0001t0052g0162 a0001c0001t0056g0268 a0001c0001t0061g0128 a0001c0001t0064g0042 a0001c0001t0065g0148 a0001c0001t0066g0209 a0001c0003t0010g0055 a0001c0003t0010g0056 a0001c0003t0010g0057 a0001c0003t0010g0058 a0001c0003t0012g0053 a0001c0003t0012g0054 a0001c0003t0012g0060 a0001c0003t0013g0179 a0001c0003t0026g0052 a0001c0003t0026g0172 a0001c0003t0046g0285 a0001c0003t0067g0015 a0001c0004t0001g0080 a0001c0004t0001g0082 a0001c0004t0001g0123 a0001c0004t0001g0124 a0001c0004t0001g0125 a0001c0004t0001g0126 a0001c0004t0001g0136 a0001c0004t0001g0137 a0001c0004t0001g0140 a0001c0004t0001g0141 a0001c0004t0001g0145 a0001c0004t0001g0146 a0001c0004t0001g0170 a0001c0004t0001g0262 a0001c0004t0001g0266 a0001c0004t0036g0115 a0001c0004t0045g0166 a0001c0008t0027g0009 a0001c0009t0024g0253 a0001c0009t0024g0254 a0001c0009t0043g0104 a0001c0027t0019g0186 a0001c0028t0003g0206 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0067 a0002c0002t0001g0071 a0002c0002t0001g0117 a0002c0002t0001g0122 a0002c0002t0001g0130 a0002c0002t0001g0147 a0002c0002t0001g0160 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0202 a0002c0002t0001g0239 a0002c0002t0001g0272 a0002c0002t0002g0040 a0002c0002t0003g0041 a0002c0002t0008g0029 a0002c0002t0008g0065 a0002c0002t0008g0085 a0002c0002t0008g0144 a0002c0002t0016g0153 a0002c0002t0023g0271 a0002c0002t0023g0291 a0002c0002t0031g0090 a0002c0002t0031g0207 a0002c0002t0033g0049 a0002c0002t0048g0066 a0002c0002t0057g0154 a0002c0002t0062g0086 a0002c0002t0069g0190 a0002c0007t0003g0107 a0002c0007t0003g0111 a0002c0007t0003g0113 a0002c0007t0020g0072 a0002c0007t0044g0109 a0002c0007t0051g0108 a0002c0010t0001g0177 a0002c0010t0001g0261 a0002c0015t0063g0002 a0002c0019t0008g0245 a0002c0020t0001g0035 a0003c0005t0003g0176 a0003c0005t0003g0178 a0003c0005t0003g0200 a0003c0005t0003g0210 a0003c0005t0003g0211 a0003c0005t0003g0212 a0003c0005t0003g0214 a0003c0005t0003g0215 a0003c0005t0003g0216 a0003c0005t0003g0218 a0005c0016t0012g0018 a0006c0018t0001g0087 a0007c0021t0047g0112 a0008c0022t0016g0151 a0009c0023t0050g0102 a0010c0025t0003g0217 a0011c0026t0004g0280 a0012c0024t0035g0074 a0013c0029t0002g0246 a0014c0017t0003g0192	227	322	0.7050	-1208	c.126 others(19): Show c.1265-2448_1265-1241del		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	10/14						chr16	TogoVar
CDA_chr1_20584097_20623903	20606193	TGACGGTT others(1200): Show TGACGGTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAACATGGCGTGAACCCGGGAGGTGGAGCTCGCAGTGAGCTGAGATCACG CCTCTGCATTCCAGCCTGAGTGACAGAGCGAGATTCCGTCTCCAAAACAA AAAAGCGGGAGGGACCTAAAAATCACCTGCTATAGACTCCCTTGCCACCA CCCCCATTTTATAGCTGATGAAATTGAGGCCCCGATAAGTTGAACAACTT TCCTGGGAGTTAGTGCCAGAGCTGGGACAAAACCCAGGTTCCAGAGTCTC ACTGCAGGGCTCATTCCACTACATCATGCTGTGCCAGGAGATGGAACACT TTTCCCTGTTCTCCACAAGCTGATGCTAGGATCCTGAATGAGCCACTCAG CACTGCTCTCTCCTTCATTTGGCAACACTCACCTCTAGGTCCAAGAACCA GGATACAAAAACAGTCAGGTAAACAGTAGTTATGGTTCAAACTAATCAGA GTCCAGCCAAGGTTCTGGCTGAACAAGAGCCCCAATCAATGCTCCTATAT GTCCCAAACATAAATATCCTAGTTGGTATGGCTTACTTTCCACGGGAGCA TGTTGAATTCTTGTTGGCTCTGGCCCTAGACTCAGTGGTTTCAGGATCCA AGCACGTAAATTAGCCCTTTTACTGGACTCCATTATTGAATGACTTAATG GTGAATTGCTCCTGTGTGCACCTTTGCATTGTGTATGACAGTTTTCTTAA CAAGTTAATGATGCAAGAAAAATGACATGGGAAATGTTGATCCCACCCAG AAGGAGGCTGCATGCCTGTTGGTCTTTAGGGACATCTGGGTGCATAGGTC ACATTCTGTGAGGTAATTATCTCTTCACTCATAGTGGAGTTAATTCCTGT GGTAGAGCTACAGCACCTTTCTGGCTAAAATACAGAAAGAGAGCTACACC TTTTAGCACCTTTCTGGCTAAAATGCAGAAATGCAGGGGTTTAGTGCAAG GCCAGTGGGGACTGCACAGAAGCAAGCCCACGTGCCTTTTATAAGATCCT ACACTTTGCCTCAGTCTGGCCCCAAGGAGACCCAGCTTAATTTGTTTCTG AGTAAGTAAAGCCCGAGGTGCACTCAAGGAGAAGGGCTCCAGTATCCGAT AGCCTTCCCTGTCACCGAGGTGTGTCCTGGCTTCCTTAAGGCTTCCGGAG GAATAAAG	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02083.hp1 HG02071.hp2 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0241 a0001c0001t0001g0242	2	418	0.0048	-1207	c.266 others(17): Show c.266+1159_266+2365del		CDA	ENSG00000158825.6	transcript	ENST00000375071.4	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH23_chr10_71391920_71820947	71483760	AGGCATAG others(1199): Show AGGCATAGAGAGTTTAAGTGCCAGTCCTGGGACTAGGTAATGCAAAAATC ACTGTTTTGGTGTACATGCTCACACACATTTCCTGTGTTTCTGTGTTCAC TCTCCCCCCACACACATGTTCACTCTCCCCCCACACACATGTGCCTGTGC ACACACACATGCCCCCTCACATGCACATTTTTACATCCTTGCTGCGGAGC CTTCAAAGGAGGTGCTGGGTCTTGTCCTCCAGCCCGAGCGCACCTGTGGA AATCATGGTTCTGGGATCCTCCCACCATTCCACACCTCCCACGGCCACAG CGTGCAGCTGTGGTCCCAGGGCCTGTATCTGGATGTGGGGGGTGAGGGCT TGAGGCATGGTGGCCCCATTACTCACAGGTGGGAGGACGCGAGAACAGTC GAGCCGCTCTTAAATATCTCTCCACGTCGTCCTCATTAATAACTGTAATG CCAGCATCATTTGCTCTTAAATAGCTTCATTTATCAACAAGCAATTTGCC GTGGCGAGGTGGTAGGGACGCAGATAAGCAGACAGGGCCAAAGTGCTTGC AAGACACCTGCCAAGTACCGTCCTCTCTCTTCCTCCATCTCCCAGGGGAG CAGGAGAAAGAGGAGGCAGCGGCAGGAAACTTAACAGGAGGTGTTCCTCC AACCCAGAGAGGGGCCGCAGGATCACCTTTTTCCAGACTCAGAGGAGCTG GGCAGCACAGGACAGGCTGGCTGCTGGGGAGGCTGGCACTCCCTGGGCCC CGGCGTTTGTGTGGCACTCAGGGAATGCTCTGACAGCTCTTTCAGCCGCG TGCAGGACTGAGAGTCAGGAGGTCAGAGCCCGGCCCTGCTCTGCCATCTC CTGGTGGTGACCTTGGGGGTGCCTTTGGACCACCCACTGTGTCATTTGTA AACATTATCAGCAATGCTGGGCATCCTCTATCTTGTTTCTGATCTCAAAA GGACTGTGTCTAAAGTTTTTTTCATTAAGTGCAATGCCTGCTGTAGGTTT TTGGTATATACATTCTGTTGAGTTAAGGATGTTCCCTTCTATTCCTAGTT TGCTGGGGTTTTATTACAAATAGGTGTTGACTTTCTCCTATGCATTGATG TCTGTAAAATGGGGACTTGAATGAGCAACTTACATACAAGTTCATGTACA CACTAAAGGGCTGTGTCATTTAGGAGTGTATTGGCTGCAAGTTACAGAAA ATTGGCT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0066 a0066	a0066c0034 a0066c0034	a0066c0034t0001 a0066c0034t0001	a0066c0034t0001g0158 a0066c0034t0001g0158	1	196	0.0051	-1206	c.146 others(19): Show c.146-26317_146-25112del		CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	3/69					INFO_REALIGN_3_PRIME	chr10	TogoVar
DRAM1_chr12_101872580_101928612	101882170	GCGATCTC others(1199): Show GCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTTTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCCCTCCC GGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGT CAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCTGATGGTC TAATGTTTTTAGCACAGTTGAACACTTTAAATAAGAGCCACAACCATAAG GAGGACCTCTCCCCAGTATGGCATTTAGAATCAGCTTCCTTATCAGATAC TTTCTCCTTGTAACATTGTTATTCTTCAGCATATTGGATAAATTGGCAAA TGGCTCTTATACACATGAAAAGATACTCAACTTTATGAATAGGAATAAAT ATTCAAATTAAAACTCACTGATGCCAGTTGTGATCTAGTGGGTTAGCAGA AACCCAAATGTTTGATACTAGTACTGGTGAGAATATGGGGAAACAGTCTC TCTCATACATTGCTTACAGGAACGTGAATTGATTTCAGTCTCCATGGTGG GACTTGGGCAATATCTATGGAAATGACAGATACACACACACCCCCCCATC ATTTGATGCAACAGCCTTTTTTTTTTTTTTTTTTTTTGAAATTTATCCTA TAGGTGTACATGCCCATGTGAAGAATGGCATTTCTGCAGAGTTACTCAGG GCATTGCTTTGAATAACAAAAGATTGGAAACTACAAATGACTATCAGTAG AGAATTGCCTAAATAAATATGGTTTATTTATTAAAGGATACTTCAAGTGA AAGCTCTCTGTACCTAGCAGATTTTTACGTCAATACACTTATATGGAAAA ATCTCCAAGATACATTGTTACATGGGAAAAAGCAAGATGCAGAACAACCT ATGCTCTCGTTAGTTAAGAAAAAAGAGGAGAAAAATAATATATATTTGCA TTAGCTTGCATAAAGAAACTAATGAAAGTGGTTTATCTGTGTGTGATGGA GGGAGGAGTAGGTCAAGGTCAGTGAGACATTGGCAGATGGGGAAAAAGGA TAATTATAAGGCATACTTTTTTGTTTTATTTTTTACCCAAATAGGTTTTT TTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTAC AATGGCA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00597.hp1 others(39): Show HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG02056.hp1 HG02071.hp1 HG02129.hp1 HG02132.hp2 HG02165.hp1 HG02698.hp2 HG02738.hp2 HG03017.hp1 HG03239.hp2 HG04184.hp2 NA18747.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18983.hp2 NA18984.hp2 NA18994.hp1 NA19001.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19072.hp1 NA19080.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0021 others(2): Show a0001c0001t0004 a0001c0001t0016 a0001c0001t0021 a0001c0001t0045 a0001c0001t0046	a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0004g0322 others(39): Show a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0004g0322 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0327 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0343 a0001c0001t0004g0344 a0001c0001t0004g0345 a0001c0001t0004g0346 a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0004g0358 a0001c0001t0004g0359 a0001c0001t0016g0321 a0001c0001t0016g0326 a0001c0001t0016g0347 a0001c0001t0021g0243 a0001c0001t0021g0328 a0001c0001t0045g0331 a0001c0001t0046g0323	42	396	0.1061	-1206	c.131 others(17): Show c.131+4265_131+5470del		DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr12	TogoVar
LOC102725191_chr7_12499441_12546270	12513719	GGCCGGGC others(1199): Show GGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGACGTCAGGAGATTGAGACCATCCTGGCTTACACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGT GGGTGCCTGTAGTCCCAGCTACTAGGGAGGCTGAAGCAGGAGAATGGTGT AAACCCAGGAGGCGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTC CAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAGAAAAAAGAAAAAAA AAGTAAAATGCCTATTCTGTAGTTGTTGGAGAAAATGTTCTGTAAATGCC TGTTAGGTTCATTTAAATTCAATGTTTCTTTACTGATTTTCTGTCCACAT GATCTGTCTAATGCTCAGAGTGGGGTGTTCAAGTATCCCACTATTATTAT ATTGGAATCTATGTCTCTCTTTAGATTTAGTAAAATTTGCTTTATAGATC TGGGTGCTCCAGTGTTGGGTGCACATATACCTAGAATTGTTATGTTCTCT TGCTGAACTAATTCCCCTTTACCATTATATAACAATATTCTTTATCTTTT ATTTTTACTGTTTTTAACTTAGTCTGTTTTATCTGATATAAGTACAGCTA CTCTTCTTTGCTTTTTTTTTAATAGAATATCTTTTCCCATACCTGTATTT TCCATGTATGTCTTTACAGATAAGTTGAGTTTCTTGTAAGCAGAATATAG TTGAATCATGTTTTTGTGTCTGTTCAGCCAGTGTAAATCTTTTAAGTGGA GATTTTAATTCATTTACTTTCAAGGTTATTATTGATTTTTGAAGTTTTCT TTCTGTCATATTGTTCATTGTTTTCTGGCTGTTTTATATATTCTTTACTT GTTCTTTTTTCTTTTATTATTTGCCCATAGGGTCTTGTAGTTTTCTGTTG TGGTACTATTTGACTCCTTTCTCTTCCTCGTTTGTGTGTTTGCTTTACCA GTGATTTTACACTTACTTATGTTTTCATGATGATGACTGATCCTTTCCCT TTCAAGTTTAGGACTCCCTTGAGCATTTTTTGTAGAACCAGTCTAGTGAT GATGAATTCCCTCAAAATTTGCTTCTCTGGGAAAGACTTTATTTATCCTG TATGAAGGATAATTTTCTTAGATATAGTATCCATAGGTGATAGGATTTTT TCTTTTA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03098.hp2 HG02896.hp2 HG02897.hp2 HG03098.hp2	a0006 a0009 a0006 a0009	a0006c0005 a0009c0009 a0006c0005 a0009c0009	a0006c0005t0002 a0009c0009t0001 a0006c0005t0002 a0009c0009t0001	a0006c0005t0002g0029 a0009c0009t0001g0340 a0006c0005t0002g0029 a0009c0009t0001g0340	3	422	0.0071	-1206	c.3+9 others(13): Show c.3+9176_4-8044del		LOC102725191	ENSG00000226690.9	transcript	ENST00000636804.2	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM120B_chr6_170301758_170412067	170343273	AAGCCTTT others(1198): Show AAGCCTTTTTGTAGAGTGGTCAGAGGACTTCCACATATTCTGAGGATGTT CCGTTGTGGTAGTAGCATTAAAAGACAAAAACCTTGGAGTATATTATCTT CCATTAAATACCTGCAAGTTCTGGAGAGAGCTATGGAGGTATCTTATCTC CTAAATTAGTATTCACATAGGCATTCAATAAATATTTCTTGGCAAAATAT TGATTGAATTTAGGATGAAAATTTTTTATATTAAAAAGATTTATCAGGAC ATTTTTCCTACTCTGGTGATTTTCTATAATCTATTATATCATTAGAACTC CTCAAGAGCCAATTCCTTTATTGTTGGTGAGTTACTTGTTTTCTGTGTGT AAATGATTTTGTAGCCTTTTTGTTGAAACTCAGCAGCTGAATCACCTGGC TGGTGTGTTAAAACACAAATTGCTGGGCCCTACCCCTAGAATTTCTAATT GAGTAAGTCTAGGGTGGGACTGAAGAATTTGCATTTCTGAGTTCCCAGAT GATACTAAGGCTGTTGGTCTAATAAAAGATGTGGGAGAGAGAAAAATAAA ACCTGTTGATTCCATAAGTTGTTTACCAGCTTTGTTCACTAGTATGTCAC TTACGTGTCACGGCCTCTGAAGACTGAGAACCGATGAAATCGTTCAGTCC ATTTGCTGGCACTGTTGCCTGCGGTGCTAGCCTCTCTCTGGTTCCTGAGC AGCCCCACCTTGGAAGAACGGATGAAATCGTTCAGTCCATTCACCTGCAC CGTTGCCTGCGGTGCTAGCCTCTCACTGGTTCCTGAGCAGCCCCACCTTG GAAGAACGGATGAAATCGTTCAGTCCATTCACCTGCACCGTTGCCTGCGG TGCTAGCCTCTCACTCGTTCCTGAGCAGCCCCACCTTGGAAGAACGGATG AAATCGTTCAGTCCATTCACCTGCACCGTTGCCTGCGGTGCTAGCCTCTC TCTGGTTCCTGAGCAGCCCCACCTTGGAAGAACGGATGAAATCGTTCAGT CCATTCACCTGCACCGTTGCCTGCGGTGCTAGCCTCTCACTGGTTCCTGA GTAGACCCACCTTGGAAGAACGGATGAAATCGTTCAGTCCATTCACCTGC ACCGTTGCCTGCGGTGCTAGCCTCTCTCTGGTTCCTGAGCAGCCCCACCT TGGAAGAACGGATGAAATCGTTCAGTCCATTCACCTGCACCGTTGCCTGC GGTGCT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03579.hp1 NA19030.hp2 HG02965.hp1 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043	3	289	0.0104	-1205	c.201 others(19): Show c.2018-4872_2018-3668del		FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
SPOCK3_chr4_166728384_167239494	166748189	GCCAAAAG others(1198): Show GCCAAAAGAACAAAGCTGGAGGCATCATGCTACCTGACTTCAAACTATAC TACAAGGCTATGGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGA TATAGACCAGTGGAACAGAACAGAGCCCTCAGAAATAATACCACACATCT ACAACCATCTGATCTTTGACAAACCTGACAAAAACAAGAAATGGGGAAAG GATTCCCTTTTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAC AAAGCTGAAACTGGATGCCTTCCTTACATCATATACAAAAGTTAACTCAA GATGGATTAAAGACTTAAATGTTAGACCTAAAGCCATAAAAACCCTAGAA GAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAAGACTTCAT GTCTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATAGACAAATGGG ATCTAATTAAACTTAAGATCTTCTTCACAGCAAAAGAAACTTCCTTCAGA GTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCAATCTATTCATC TGACAAAGGGCTAACATCCAGAATCCACAAAGAACTTGAACAAATTTATA AGAAAAAAATCAAACAACCCCATCAAAAAGTGGGTAAAGGATATGAACAG ACATTTTTCAAACGAAGTCATTTATGCCACCAACAGACACAGAAAAAATG CTCATCATCACTGGCCATCAGGGAAATGCATATCAAAACCACAATGAGAT ACCATCTCACACCAGTTAGAATGGTGATCATTAAAAAGTCAGGAAACAAC AGGTGCTGGAGAGGATGTGGAGAAATGGGAATACTTTTACACTGTTGGTG GGACTGTAGACTAGTTCAACCATTGTGGAAGGCAGTGTGGTGATTCCTCA AAGACATAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGT ATATACCCAAAGGATTATAAATCATGCTACTATAAAGACACATGTGCACG TATGTTTATTGCAGCACTGCTCACAATAGCAAAGACTTGGAACCAACCCA AATGTCCATCAATGATAGAATGGTTTAAGAAAATGTGGCACATATACATC TTGGAATACTATGCAGCCATAAAAAAAGATGAGTTCATGTCCTTTGTAGG GACATGGATGAAGCTGGAAACTATCATTCTGAGCAAACTATCACAAGGAC AGAAAA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp2 HG01109.hp2 others(28): Show HG00741.hp1 HG01071.hp2 HG01109.hp2 HG01175.hp2 HG01261.hp2 HG01361.hp2 HG01884.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02895.hp2 HG02970.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA18952.hp1 NA19030.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0002c0004 a0002c0009	a0001c0001t0003 a0001c0003t0003 a0001c0003t0004 others(4): Show a0001c0001t0003 a0001c0003t0003 a0001c0003t0004 a0001c0005t0003 a0001c0006t0003 a0002c0004t0003 a0002c0009t0003	a0001c0001t0003g0012 a0001c0001t0003g0017 a0001c0001t0003g0019 others(28): Show a0001c0001t0003g0012 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0034 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0057 a0001c0001t0003g0061 a0001c0001t0003g0069 a0001c0001t0003g0076 a0001c0001t0003g0104 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0120 a0001c0001t0003g0133 a0001c0003t0003g0035 a0001c0003t0004g0074 a0001c0005t0003g0003 a0001c0005t0003g0007 a0001c0005t0003g0008 a0001c0006t0003g0005 a0002c0004t0003g0043 a0002c0004t0003g0137 a0002c0004t0003g0140 a0002c0009t0003g0002	31	144	0.2153	-1205	c.931 others(17): Show c.931+5114_932-6131del		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	8/10						chr4	TogoVar
FRMPD4_chrX_12133473_12729523	12621964	GAAAGAGA others(1197): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG AAGGAAAGAAAGAAGGAAAGAAGAAGAAAAGAGGAGAAGAGAGGAGAGGA AAGGAGAGGAGAGGAGAGGAGAGGTGAACTATAAAAAGAACCAAACAGAA ATCCTGGAGCTAAAGAATACAATGACAAAACTAAACATTTTAATAGCTTC AACAGCAGACTCAATTATGCAGAAGAATCAGCAAATGTGAAGACAGGCTA TTTGAAATTACCCAGTTAGAGGAACAGAAAGTAAAAAGAATAAAAAAGAG TAAAGGAAGCATACAGGTCCTATGAGATACCATCAATTGAATGAATATAT GCATTATGGGAATATTAGAAGGAGAAAAGGAAAAAAGGGGAAAAAGCTTA TTTAAAGAAATAATGGCTGAAACGTCCTAAATCTTGGAAGGGATATGGAC ATCCAGATTTATACAAATCAAAGGGTCTCAAGCAGAATCAATCCAAAGAC TACTCTAAGACACATTATAACCAAATTTTTAAAAGCCAAACACAGACATA GAATATTGCCCCTAAGAGATATCATTTGAGATATATAAATTACATGAAAA ATAATACAAAATAATCACCTTAATGAAGCTCAGTGGGATACAAGAGAACA CAGACCACCAAGAAAAACAAAAAGCAATACATAAACAAAATAAAAAGTTT AATAAAGAAATACAGGTCAGGCGTGGTGATTCACATTTGTAATTCCAGCA CTTTGGGAGGCCAAGGCAGGCAGATGGCTTTGAGCCCAAAAGTTCAAGAC TAGCCTGGGCAACATGGCAAAACCCCATCTCTACAAAAATTAGCCAGATG TGGTGGCCCGAATCTGTAGTCCCAGCAACTTGGGAGGCTGAGGTGGGAGG ATGACTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCCAAGATCACACCAC TGCACTGTAGCCTGGGCAACATAGCCAGACCCTGTTTCAAAAAAAGAAAA GAAAAGAAAGGAAAAAGGAAAGGAAGTAATAAGGAAAGGAAAAAGGAAAG GAAGGGAAGGGAAGTGAAGGGAAGGGAAGTGAAGGGAAGGGAAAGGAAGG GAGGAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAGA AAGAA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0019 a0001c0006t0001g0019	1	174	0.0058	-1204	c.422 others(17): Show c.422+7085_422+8288del		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12621968	GAGAAAGA others(1197): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG AAAGAAAGAAGGAAAGAAGAAGAAAAGAGGAGAAGAGAGGAGAGGAAAGG AGAGGAGAGGAGAGGAGAGGTGAACTATAAAAAGAACCAAACAGAAATCC TGGAGCTAAAGAATACAATGACAAAACTAAACATTTTAATAGCTTCAACA GCAGACTCAATTATGCAGAAGAATCAGCAAATGTGAAGACAGGCTATTTG AAATTACCCAGTTAGAGGAACAGAAAGTAAAAAGAATAAAAAAGAGTAAA GGAAGCATACAGGTCCTATGAGATACCATCAATTGAATGAATATATGCAT TATGGGAATATTAGAAGGAGAAAAGGAAAAAAGGGGAAAAAGCTTATTTA AAGAAATAATGGCTGAAACGTCCTAAATCTTGGAAGGGATATGGACATCC AGATTTATACAAATCAAAGGGTCTCAAGCAGAATCAATCCAAAGACTACT CTAAGACACATTATAACCAAATTTTTAAAAGCCAAACACAGACATAGAAT ATTGCCCCTAAGAGATATCATTTGAGATATATAAATTACATGAAAAATAA TACAAAATAATCACCTTAATGAAGCTCAGTGGGATACAAGAGAACACAGA CCACCAAGAAAAACAAAAAGCAATACATAAACAAAATAAAAAGTTTAATA AAGAAATACAGGTCAGGCGTGGTGATTCACATTTGTAATTCCAGCACTTT GGGAGGCCAAGGCAGGCAGATGGCTTTGAGCCCAAAAGTTCAAGACTAGC CTGGGCAACATGGCAAAACCCCATCTCTACAAAAATTAGCCAGATGTGGT GGCCCGAATCTGTAGTCCCAGCAACTTGGGAGGCTGAGGTGGGAGGATGA CTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCCAAGATCACACCACTGCA CTGTAGCCTGGGCAACATAGCCAGACCCTGTTTCAAAAAAAGAAAAGAAA AGAAAGGAAAAAGGAAAGGAAGTAATAAGGAAAGGAAAAAGGAAAGGAAG GGAAGGGAAGTGAAGGGAAGGGAAGTGAAGGGAAGGGAAAGGAAGGGAGG AAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAGAAAGA AAGAA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA19068.hp1 HG02293.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0013 a0001c0001 a0002c0013	a0001c0001t0002 a0002c0013t0005 a0001c0001t0002 a0002c0013t0005	a0001c0001t0002g0102 a0002c0013t0005g0005 a0001c0001t0002g0102 a0002c0013t0005g0005	2	174	0.0115	-1204	c.422 others(17): Show c.422+7122_422+8325del		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12622007	AAAGAAAG others(1197): Show AAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAAGAAGGAAAGAAAGAAGGAAAGAAGAAGAAAAGAGGAGAAGAGAG GAGAGGAAAGGAGAGGAGAGGAGAGGAGAGGTGAACTATAAAAAGAACCA AACAGAAATCCTGGAGCTAAAGAATACAATGACAAAACTAAACATTTTAA TAGCTTCAACAGCAGACTCAATTATGCAGAAGAATCAGCAAATGTGAAGA CAGGCTATTTGAAATTACCCAGTTAGAGGAACAGAAAGTAAAAAGAATAA AAAAGAGTAAAGGAAGCATACAGGTCCTATGAGATACCATCAATTGAATG AATATATGCATTATGGGAATATTAGAAGGAGAAAAGGAAAAAAGGGGAAA AAGCTTATTTAAAGAAATAATGGCTGAAACGTCCTAAATCTTGGAAGGGA TATGGACATCCAGATTTATACAAATCAAAGGGTCTCAAGCAGAATCAATC CAAAGACTACTCTAAGACACATTATAACCAAATTTTTAAAAGCCAAACAC AGACATAGAATATTGCCCCTAAGAGATATCATTTGAGATATATAAATTAC ATGAAAAATAATACAAAATAATCACCTTAATGAAGCTCAGTGGGATACAA GAGAACACAGACCACCAAGAAAAACAAAAAGCAATACATAAACAAAATAA AAAGTTTAATAAAGAAATACAGGTCAGGCGTGGTGATTCACATTTGTAAT TCCAGCACTTTGGGAGGCCAAGGCAGGCAGATGGCTTTGAGCCCAAAAGT TCAAGACTAGCCTGGGCAACATGGCAAAACCCCATCTCTACAAAAATTAG CCAGATGTGGTGGCCCGAATCTGTAGTCCCAGCAACTTGGGAGGCTGAGG TGGGAGGATGACTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCCAAGATC ACACCACTGCACTGTAGCCTGGGCAACATAGCCAGACCCTGTTTCAAAAA AAGAAAAGAAAAGAAAGGAAAAAGGAAAGGAAGTAATAAGGAAAGGAAAA AGGAAAGGAAGGGAAGGGAAGTGAAGGGAAGGGAAGTGAAGGGAAGGGAA AGGAAGGGAGGAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAG AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG GAAGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	174	0.0058	-1204	c.422 others(17): Show c.422+7130_422+8333del		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12622015	AAAGGAAG others(1197): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA AGGAAAGAAAGAAGGAAAGAAGAAGAAAAGAGGAGAAGAGAGGAGAGGAA AGGAGAGGAGAGGAGAGGAGAGGTGAACTATAAAAAGAACCAAACAGAAA TCCTGGAGCTAAAGAATACAATGACAAAACTAAACATTTTAATAGCTTCA ACAGCAGACTCAATTATGCAGAAGAATCAGCAAATGTGAAGACAGGCTAT TTGAAATTACCCAGTTAGAGGAACAGAAAGTAAAAAGAATAAAAAAGAGT AAAGGAAGCATACAGGTCCTATGAGATACCATCAATTGAATGAATATATG CATTATGGGAATATTAGAAGGAGAAAAGGAAAAAAGGGGAAAAAGCTTAT TTAAAGAAATAATGGCTGAAACGTCCTAAATCTTGGAAGGGATATGGACA TCCAGATTTATACAAATCAAAGGGTCTCAAGCAGAATCAATCCAAAGACT ACTCTAAGACACATTATAACCAAATTTTTAAAAGCCAAACACAGACATAG AATATTGCCCCTAAGAGATATCATTTGAGATATATAAATTACATGAAAAA TAATACAAAATAATCACCTTAATGAAGCTCAGTGGGATACAAGAGAACAC AGACCACCAAGAAAAACAAAAAGCAATACATAAACAAAATAAAAAGTTTA ATAAAGAAATACAGGTCAGGCGTGGTGATTCACATTTGTAATTCCAGCAC TTTGGGAGGCCAAGGCAGGCAGATGGCTTTGAGCCCAAAAGTTCAAGACT AGCCTGGGCAACATGGCAAAACCCCATCTCTACAAAAATTAGCCAGATGT GGTGGCCCGAATCTGTAGTCCCAGCAACTTGGGAGGCTGAGGTGGGAGGA TGACTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCCAAGATCACACCACT GCACTGTAGCCTGGGCAACATAGCCAGACCCTGTTTCAAAAAAAGAAAAG AAAAGAAAGGAAAAAGGAAAGGAAGTAATAAGGAAAGGAAAAAGGAAAGG AAGGGAAGGGAAGTGAAGGGAAGGGAAGTGAAGGGAAGGGAAAGGAAGGG AGGAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAG GAAGG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0013 a0001c0006t0001g0013	1	174	0.0058	-1204	c.422 others(17): Show c.422+7161_422+8364del		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
ADARB2_chr10_1172313_1742525	1235477	TCTCCCGG others(1196): Show TCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTA CTCCCCTGCTTTCAGGTGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGG ATTACAGGCGAGAGCCACCACACTGGGCCCCACCATGATCTTTTAACAAG CCAATTTTTCCCACTGCTGTTCGCCCACATCTATCTGTCTACACACCTGT GATTCTGTGGATTTGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACT GTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGG AAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTG GAGAACCGTGGCGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGT GGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGC AAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCC CATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTT TACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTCACTCCCCT CTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCC TGCCTCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGA TGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAG CTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGC CTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCC CTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTCC	T T	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	106	0.0094	-1203	c.136 others(19): Show c.1362-2835_1362-1633del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
IQCN_chr19_18252098_18279452	18276646	GTCCCAGC others(1195): Show GTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAG GCGGAGCTTGCAATGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGCG GCAGAGCAAGACTCCGTCTCAAAGAAAAAATAAAAATAAAAATTAGTAGG GCATGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGAG GCAGGACAATCAGTTGAGCCTAGGAGGTCAAGGCTGCAGTGAGCTGTGGT CTTGCCACTGCACTCTGGCCAAGGCAAGAGCGAGACCTCATCTTGTAAAG AAAAAAAAAAACAAACTTGTGGGGCCCAGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAAGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAG ACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAA AAAATTTAGCCAGGCAGGGTGGCTCACGCCTGTAATCCCAGAAACTTTGG GAAGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGC TAACACGGTGAAACCCCGTCTCTACTAAAAACACAAAAAAATTAGCCGGG CATAGTGGCGGGCGCCTGCAGTCCCAGCTACTCAGGAGGCTGAGGCAGGA GAATGGCATGAACCAGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCC ACCGCACTCCAGCCTGGGAGACAGAACGAGACTCCGTCTCAAAAAAAAAA ATTTAGCTGGGCATGGTGGCAGACACCTGTAATCCCAGCTAATCAAGAGG CTGAGGCAAGAGAATCGATTGAAACTGGGAGGTGGAGGTTGCGGTAAGCC AAGATCAGGCCATTGCACTCCAGCCTGGGCGACAAGAGGAAGACTCAGTC TCAAAAAAAAAAAAGAAAAACAAAGTACGTCCTCCACCTCTCTGCAGGGC TCCTCAGAGTCCTTTCGCCTTAGACCACTTGGGGGCAGGCAAGCAAGAGA CCTGGGTTTGAATCGCTGCTCTGCCATTTAACAGGGGTGTTGGCCGGGCA CGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGG ATCATGAGGTCAGGGGATCAAGACCATCCTGGCTAACACGGTGAAACCCC ATCTCTACTAAAAGTACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTG TAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG03225.hp2 HG03453.hp2 others(3): Show HG01123.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03579.hp1 NA18906.hp2	a0004 a0006 a0004 a0006	a0004c0007 a0006c0008 a0004c0007 a0006c0008	a0004c0007t0001 a0006c0008t0001 a0004c0007t0001 a0006c0008t0001	a0004c0007t0001g0016 a0004c0007t0001g0272 a0004c0007t0001g0274 others(1): Show a0004c0007t0001g0016 a0004c0007t0001g0272 a0004c0007t0001g0274 a0006c0008t0001g0273	6	434	0.0138	-1202	c.-35 others(11): Show c.-3555_-2354del		IQCN	ENSG00000130518.18	transcript	ENST00000392413.5	protein_coding					2195		chr19	TogoVar
JUND_chr19_18274694_18286622	18276646	GTCCCAGC others(1195): Show GTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAG GCGGAGCTTGCAATGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGCG GCAGAGCAAGACTCCGTCTCAAAGAAAAAATAAAAATAAAAATTAGTAGG GCATGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGAG GCAGGACAATCAGTTGAGCCTAGGAGGTCAAGGCTGCAGTGAGCTGTGGT CTTGCCACTGCACTCTGGCCAAGGCAAGAGCGAGACCTCATCTTGTAAAG AAAAAAAAAAACAAACTTGTGGGGCCCAGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAAGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAG ACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAA AAAATTTAGCCAGGCAGGGTGGCTCACGCCTGTAATCCCAGAAACTTTGG GAAGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGC TAACACGGTGAAACCCCGTCTCTACTAAAAACACAAAAAAATTAGCCGGG CATAGTGGCGGGCGCCTGCAGTCCCAGCTACTCAGGAGGCTGAGGCAGGA GAATGGCATGAACCAGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCC ACCGCACTCCAGCCTGGGAGACAGAACGAGACTCCGTCTCAAAAAAAAAA ATTTAGCTGGGCATGGTGGCAGACACCTGTAATCCCAGCTAATCAAGAGG CTGAGGCAAGAGAATCGATTGAAACTGGGAGGTGGAGGTTGCGGTAAGCC AAGATCAGGCCATTGCACTCCAGCCTGGGCGACAAGAGGAAGACTCAGTC TCAAAAAAAAAAAAGAAAAACAAAGTACGTCCTCCACCTCTCTGCAGGGC TCCTCAGAGTCCTTTCGCCTTAGACCACTTGGGGGCAGGCAAGCAAGAGA CCTGGGTTTGAATCGCTGCTCTGCCATTTAACAGGGGTGTTGGCCGGGCA CGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGG ATCATGAGGTCAGGGGATCAAGACCATCCTGGCTAACACGGTGAAACCCC ATCTCTACTAAAAGTACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTG TAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG03225.hp1 HG03453.hp1 others(3): Show HG01123.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0000 a0001c0001t0007g0000	6	408	0.0147	-1202	c.25 others(11): Show c.2593_*3794del		JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding					3047		chr19	TogoVar
LMF1_chr16_848634_975984	960740	GACAGACT others(1195): Show GACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGACACAGACTCACGGTGACAACACGGGATCACGACCCA GACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACAGACTCACGGTGACAGCACGGGATCACGACCCAGACA CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACAGACTCACGGTGACAGCACGGGATCACGACCCAGACA CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCA GACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCA GAC	G G	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0016 a0016	a0016c0065 a0016c0065	a0016c0065t0001 a0016c0065t0001	a0016c0065t0001g0140 a0016c0065t0001g0140	1	294	0.0034	-1202	c.194 others(17): Show c.194-7276_194-6075del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10						chr16	TogoVar
TOPAZ1_chr3_44236886_44337098	44274840	CACCCGGC others(1195): Show CACCCGGCCGCCTTTAATTCTTTTAAGTGAGAGATGACAGTTCTTATTTT GTACCTCCACTGGTAGGTTTTTTTTTAATTGCTCTTGATTCATAATATTT TACATATTTATGGGGTATATGTGATATTTTGTTACATCTATGTGTGTGAT ATTTTGTACATCTATGCATGTGGCAAAATATCCCATACCCCATAAATACA TAAAATTTATTATTATACATCCATACAGTTTACATGCATAGATGTAACAA AATACCACATATACCCCATAAATATGTAAAATATTGTGAATCAAGATCAT AATGATCAATCAAGTCAGGGTATTTGGTGTATCCATCACCTTGAGTGTTT AACATTTCTATGAGTTGGGAACATTTCAAATTCTTCTAGCTACTTTGAAA TACACAATACATTGTTGCTAACTATAGTCATCCTACACTGCTATCAAACA TTAGAACTTATACCTTCCAACTGTATGTTTATACTATTTGACCAACCACT CTTTTTCCCCCTCCTACCTACACATTCTTCCCAGCCTCTGTTTCTATCAT TCTACTGTCTACCTCAATGAAATCAACTTCTTTAGCTCCCACGTAAGAGT GAGAATATGGTATATGTGTCTTTGTGCCTCCTTGTTACCACTTAACATAC TGACCTCCAGTTCATCCATATTGCTGCAGACTACATGATTTCATTCTTTT TTATGACCAAATAATATTCCATTGTGTATATATACCACATTTTCTTTATT CATTGATCTATTGATGGACTCTTGGGTTGATTCCATATCTTTGCTATTGT GAATAGTGCTGGAATAAACATGTGAGTACAGGTATCCCTTTAATTTACTA ATTTTTTTTTCTTTGGATAAATACCCAGTAGTGGGATTGCTAAATCATAT GGTAGTTTTACTTTTAGTTTTTTAAGAAATCTCCATACTGTTTTCCACAG AGGCTGCGCTAATTTACATTCCCACCAACAGTGTATAAAAGTTCTTTTTT CTCTGCATCCTCACCAACATTTGTTATTTTCTGTCTTCTTAGTGATAGGC ACTCTAACTGGGGTAAGATGATACCTTACTGTGGTTTAGATTTGCATTTC CCTGATATGTAGTAATGTTGAGCATTCTTTCATATACCTGTTAGCCATTT GTATGTCTTCTCTTGAGAAATGTCTGTTCATGTCCTTTGCCCACTTTTTA ATG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03540.hp1 HG02818.hp2 HG03540.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0021 a0009c0012t0001g0022 a0009c0012t0001g0021 a0009c0012t0001g0022	2	258	0.0078	-1202	c.337 others(19): Show c.3372+4032_3372+5233del		TOPAZ1	ENSG00000173769.4	transcript	ENST00000309765.4	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr3	TogoVar
LDHC_chr11_18407318_18457063	18421922	AAGACTAG others(1194): Show AAGACTAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAACTACAA AAATTAGCTGCATGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAG GCTGAGGCAGGAGAATCACTTCAACCCGGCAGGTGGAGGTTGCAGTGAGC CAAGATCACTGCCACTATACTCCAGCCTAAGCGATGGAGCAAGACTGATA CAAAAAAACAAAAAAATTAGTAAAGAGAAAGAAGTAATATTAGATAAACA TACCTAATGAATTAAAAAGAAGATAGAAATATAAGAATAGGACAGCATAT AAAACTAAAAGTTTAGCAAGGATGACAGACAAAGTTAGTAATCAGAAATC AAGGCCGGGCACGATGGCCCATGCCTGTAATCCCAGCACTCTGGGAGGCT GAGGTGGTGGATCACTTAAGGCCAGGAGTTTGAGATCAGCCTGGGCAACA TGGTGAGACCCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTAAT GGTGCACACCTGTAATCCAGCTACTTGGTACGCTGAGGTAGGAGAATCAC TTGAACCCGGAGGTGGAAGTTGCAGTGAGCCGAGATTGTGGCAGTGCACT CCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAATCC ATTGTATTTCTGCATGCCAAAACCAGGCAAAAGAAATCTAAAGCTATTAT TTACAATATCATAAAAATAGGAAATACCTGGCATAAGAGCTTTTGTGCAG AAAACATACCACCTCATTAGAAGATGTTAAATGTCAGGCTGGGTGTGGTG CCTGTAATCCTAGCACTTTGGGAAGCCGAGGCGGGAGTATCGCTTGAGTG GAGGAGTTTAAGACCAGCCTGGGAAACACGGTGAAACCATGTCTTTACCA AAAATACAAAAATTAGCTGGGCGTGTTGATGGGTGCCTGAGTCCCAGCTA CTCAAGAGGCTGAGGTGGAAGGATGGCTTGAGCCTGGGAGGTAGAAGTCA CAGTGAGCTGAGGTTGCGCCATTGCACTCCAGCCTGGGTGACATGTCTCA AAAAAACCAAAACCAAAAAAAAGAAAACAACAAAAAACTCAAAGAATATA TTATCTAAATAAATGAGGGGAGGCTGGGCGCAGTAGCTCATGCCTGTAAT CCCAGCACTTTGCGAGGCCGAGTCAAGTGGATCCCTTGAGGTCAGGAGTT CG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02809.hp1 HG02145.hp1 HG02809.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0007	a0004c0005t0007g0014 a0004c0005t0007g0015 a0004c0005t0007g0014 a0004c0005t0007g0015	2	348	0.0058	-1201	c.244 others(17): Show c.244+6626_245-6610del		LDHC	ENSG00000166796.12	transcript	ENST00000541669.6	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
TMEM114_chr16_8564500_8595511	8594310	CACTCTAA others(1194): Show CACTCTAAAAGGAACAGAAAGTAATTTTTTTTTATGATTCTGGGGAGGAG AGGAGCACGTCAAACATCACGTAATATCATTACTCAGCCAGTCAACTGAA GAAGCATGATAAAACCTGAAATCTCCCAAGGCCAGATCCAAACAAGCCAC GGCATTTAAGATTAAGGCTACACCAGGCACCGTGCTATCTCACTACAGCA TGGGGGAGCACAACGTTCATCAGGGATTGCAGAGGCTGGTTTTGAGTCTT AAATCAGCATCTGACAGCTGTCTGAGCCCAGAGAAGTTATCTATTATCTG GGCGTGGTGGTGAGCACCTGTAATCACAGCTACTCGGGAGACTGAGGCAG GAGAATCGCTTGAACCCAGGAGCCAGAAGTTGGTGTGAGCTGGGATTGTG CCACTGCACTCCAGCCTATGTGGTAGAGTGAGACTGTCTCAAAAAATAAG ATAAGTGGAAAGCACTTTCAGAAGTGTGGAGGGAAATGCACGTTAAGAAT GAAAAGAGGAAATATTAAAAGAAAGAGAAGGAAAAGGCTGGGAATAGTGG CTCATGCCTGTAATCCCAATGCTTTGGGAGTCTGAGATGGAGGGATCGCT TGAGGCCAAGAGTTCCAGAACAGACAGGGCAACATAGCAAGACTCCATCT CTACTAAAAAAAAAAAATTAAAAAATTAGCTAGGTGTGATGGCACACCTG TAGTCCCAGCTACTTGGGAGGCTGACGTGGGAGAATCGCTTTAGTCCAAG AGTTTGAGGCTGCAGTGAGCTATGATCATGCCACTGTACTCCAGCCTGGG CAACACAGTGAGACCCTGTCCCTAAAAAAATAAAAAATATTTATTTTTTA AAAAGAAGGAATAAAGGAAGAGGGAGGGAGGTATCAGGGTGTAGGGAAGA AGGGTTACCTCTTATTATGAAGCACTGAGGCATCACAGGGAAAAAAATGA TATTTAAAAAACAATTAATGAGACCTGGATTTGGCTGTCAGCTCTTTTAC TCACCAACATGTGAATATGAGTAAGTCCTTTTTTCCTGGAGCCTCAGTTT CCCTATTTCTACATGTATCTTAAATATAGAGTTGCAGAGGGATTCAATAA GACAATGTATAAAAAGCGTCTGAAACATAGTAGATGTTCAATAAGTCCAT GAATTCCCTTCCCCTTTCCCAGTTCCCAGAAAGCTCTGTGGCCTAGACGG TT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01346.hp2 HG02109.hp1 others(14): Show HG00323.hp1 HG01346.hp2 HG02109.hp1 HG02258.hp2 HG02300.hp1 HG02647.hp1 HG02818.hp2 HG02896.hp2 HG02970.hp1 HG03098.hp2 HG03486.hp1 HG03516.hp1 HG03704.hp1 HG03927.hp2 HG06807.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0010 a0001c0001t0001g0074 a0001c0001t0001g0114 others(8): Show a0001c0001t0001g0010 a0001c0001t0001g0074 a0001c0001t0001g0114 a0001c0001t0001g0186 a0001c0001t0002g0020 a0001c0001t0002g0187 a0001c0001t0005g0024 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0283 a0001c0001t0011g0284	17	416	0.0409	-1201	c.-56 others(11): Show c.-5673_-4473del		TMEM114	ENSG00000232258.7	transcript	ENST00000620492.5	protein_coding					3800		chr16	TogoVar
DOC2B_chr17_137789_186650	166707	CGTAGTGA others(1193): Show CGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCA CGAGATCTGATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACG AGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAG ATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGAT CTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCT CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACA CTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGA G	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	339	0.0030	-1200	c.454 others(17): Show c.454-3703_454-2504del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
DVL1_chr1_1330278_1354418	1349974	TGGGAGGA others(1193): Show TGGGAGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGA C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 NA19240.hp1 HG01069.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	344	0.0058	-1200	c.-21 others(10): Show c.-2109_-910del		DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding					557		chr1	TogoVar
FMNL3_chr12_49631499_49712405	49703494	CAGCTTCA others(1193): Show CAGCTTCACAACCTTTTTCCCATCGAGGCACACCTAGAAAATATTACTGT TTCTACAGTACATGGGGTAGAAGCTGATCCCATCCAGAGGGGACTGACTG GGAACTTTAGCTGCCCCTAGGAATAAGGGGATCAGTATTCCAGCACATCT GTGATCCATCTGCAGCACACTAGTAGGGAAGCCCTGAATTAAGGCACTGG GCTGGGTTAGGATTCTTGGAATCAATGTTCTCATCAAATCTTCTCATAGC CCTCATCTCAAGCTCTTCAACTTTGGCTGACAGATCATGTGTCTAGAACA GAAGGCTGGGAGCCTGTGGTCTTGACTCAGCACTGATACAACTTCCCCAG CGAGGATACTCTTCAGGGGGTTTTCCACAGACACACTTGGGGCTAAGGAA GCCCTCCAGCTTACAGCAGCAGCCATATTCCGAGACTGGATATACACAAC AGGGTAATTGGTTTTATCAGATTTCTAAACTTTAAAACCCCTTTTTCGGA ACACAAGTGATCTCAGATCTGAGTCACTGCTGAGAGGTACAAACTTAAAA GCTACCATTTACTAAGCATATAGTAGATGCCAGACTCTGCTAAGTATTTG ACTTCCAATTTCATTAAATCCACACAACAACCTCATGTGGCAAATGCTAT TATTATCCCCATGTATAAGAGAAGACTGGGAATCAGATTAAGTAACTTGC TTGAGGTCAAACACTCTTCTAACCAAAGACTATGGATGAAACAGTTGAAT CCACTCTGACTTCAAAGTCCATAAGCTTAACCAGGACACCACTATGTCAC CTCAACAAACCTCCCAAATAGCTTTTTCAAAAAACCTAACCAATTATAAT GAAGCTGACAATCTAGGAAAGAAAAAGGTGAGAAAGGAACAGTTTATCTG ACTGTTTCACACCATCAACAAAAATAAGCTAATCTGGCCAGGCACAGTGG CTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACC TGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCT CTACTAAAAACACAAAAATTAGCCAGGCTTAGTGGCACGCGCCTGTAATC CCAGCTACTGGGGAGGCTGAAGCAGGAGAACTGCTTGAACCCGGGAGGCT GAGTTTGCAGTGAGCTGAGATCGTGCTGCCGCACTCCAGCCTGGATGACA G	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0021 a0003c0006t0021	a0003c0006t0021g0102 a0003c0006t0021g0102	1	150	0.0067	-1200	c.126 others(17): Show c.126+2361_126+3560del		FMNL3	ENSG00000161791.14	transcript	ENST00000335154.10	protein_coding	1/25						chr12	TogoVar
FRMPD4_chrX_12133473_12729523	12621968	GAGAAAGA others(1193): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG AAAGAAAGAAGGAAAGAAGAAGAAAAGAGGAGAAGAGAGGAGAGGAAAGG AGAGGAGAGGAGAGGAGAGGTGAACTATAAAAAGAACCAAACAGAAATCC TGGAGCTAAAGAATACAATGACAAAACTAAACATTTTAATAGCTTCAACA GCAGACTCAATTATGCAGAAGAATCAGCAAATGTGAAGACAGGCTATTTG AAATTACCCAGTTAGAGGAACAGAAAGTAAAAAGAATAAAAAAGAGTAAA GGAAGCATACAGGTCCTATGAGATACCATCAATTGAATGAATATATGCAT TATGGGAATATTAGAAGGAGAAAAGGAAAAAAGGGGAAAAAGCTTATTTA AAGAAATAATGGCTGAAACGTCCTAAATCTTGGAAGGGATATGGACATCC AGATTTATACAAATCAAAGGGTCTCAAGCAGAATCAATCCAAAGACTACT CTAAGACACATTATAACCAAATTTTTAAAAGCCAAACACAGACATAGAAT ATTGCCCCTAAGAGATATCATTTGAGATATATAAATTACATGAAAAATAA TACAAAATAATCACCTTAATGAAGCTCAGTGGGATACAAGAGAACACAGA CCACCAAGAAAAACAAAAAGCAATACATAAACAAAATAAAAAGTTTAATA AAGAAATACAGGTCAGGCGTGGTGATTCACATTTGTAATTCCAGCACTTT GGGAGGCCAAGGCAGGCAGATGGCTTTGAGCCCAAAAGTTCAAGACTAGC CTGGGCAACATGGCAAAACCCCATCTCTACAAAAATTAGCCAGATGTGGT GGCCCGAATCTGTAGTCCCAGCAACTTGGGAGGCTGAGGTGGGAGGATGA CTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCCAAGATCACACCACTGCA CTGTAGCCTGGGCAACATAGCCAGACCCTGTTTCAAAAAAAGAAAAGAAA AGAAAGGAAAAAGGAAAGGAAGTAATAAGGAAAGGAAAAAGGAAAGGAAG GGAAGGGAAGTGAAGGGAAGGGAAGTGAAGGGAAGGGAAAGGAAGGGAGG AAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAGAAAGA A	G G	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	174	0.0058	-1200	c.422 others(17): Show c.422+7126_422+8325del		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12622007	AAAGAAAG others(1193): Show AAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAAGAAGGAAAGAAAGAAGGAAAGAAGAAGAAAAGAGGAGAAGAGAG GAGAGGAAAGGAGAGGAGAGGAGAGGAGAGGTGAACTATAAAAAGAACCA AACAGAAATCCTGGAGCTAAAGAATACAATGACAAAACTAAACATTTTAA TAGCTTCAACAGCAGACTCAATTATGCAGAAGAATCAGCAAATGTGAAGA CAGGCTATTTGAAATTACCCAGTTAGAGGAACAGAAAGTAAAAAGAATAA AAAAGAGTAAAGGAAGCATACAGGTCCTATGAGATACCATCAATTGAATG AATATATGCATTATGGGAATATTAGAAGGAGAAAAGGAAAAAAGGGGAAA AAGCTTATTTAAAGAAATAATGGCTGAAACGTCCTAAATCTTGGAAGGGA TATGGACATCCAGATTTATACAAATCAAAGGGTCTCAAGCAGAATCAATC CAAAGACTACTCTAAGACACATTATAACCAAATTTTTAAAAGCCAAACAC AGACATAGAATATTGCCCCTAAGAGATATCATTTGAGATATATAAATTAC ATGAAAAATAATACAAAATAATCACCTTAATGAAGCTCAGTGGGATACAA GAGAACACAGACCACCAAGAAAAACAAAAAGCAATACATAAACAAAATAA AAAGTTTAATAAAGAAATACAGGTCAGGCGTGGTGATTCACATTTGTAAT TCCAGCACTTTGGGAGGCCAAGGCAGGCAGATGGCTTTGAGCCCAAAAGT TCAAGACTAGCCTGGGCAACATGGCAAAACCCCATCTCTACAAAAATTAG CCAGATGTGGTGGCCCGAATCTGTAGTCCCAGCAACTTGGGAGGCTGAGG TGGGAGGATGACTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCCAAGATC ACACCACTGCACTGTAGCCTGGGCAACATAGCCAGACCCTGTTTCAAAAA AAGAAAAGAAAAGAAAGGAAAAAGGAAAGGAAGTAATAAGGAAAGGAAAA AGGAAAGGAAGGGAAGGGAAGTGAAGGGAAGGGAAGTGAAGGGAAGGGAA AGGAAGGGAGGAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAG AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG G	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0030 a0002c0005t0001g0030	1	174	0.0058	-1200	c.422 others(17): Show c.422+7130_422+8329del		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12622011	AAAGAAAG others(1193): Show AAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGAAGGAAAGAAAGAAGGAAAGAAGAAGAAAAGAGGAGAAGAGAGGAGA GGAAAGGAGAGGAGAGGAGAGGAGAGGTGAACTATAAAAAGAACCAAACA GAAATCCTGGAGCTAAAGAATACAATGACAAAACTAAACATTTTAATAGC TTCAACAGCAGACTCAATTATGCAGAAGAATCAGCAAATGTGAAGACAGG CTATTTGAAATTACCCAGTTAGAGGAACAGAAAGTAAAAAGAATAAAAAA GAGTAAAGGAAGCATACAGGTCCTATGAGATACCATCAATTGAATGAATA TATGCATTATGGGAATATTAGAAGGAGAAAAGGAAAAAAGGGGAAAAAGC TTATTTAAAGAAATAATGGCTGAAACGTCCTAAATCTTGGAAGGGATATG GACATCCAGATTTATACAAATCAAAGGGTCTCAAGCAGAATCAATCCAAA GACTACTCTAAGACACATTATAACCAAATTTTTAAAAGCCAAACACAGAC ATAGAATATTGCCCCTAAGAGATATCATTTGAGATATATAAATTACATGA AAAATAATACAAAATAATCACCTTAATGAAGCTCAGTGGGATACAAGAGA ACACAGACCACCAAGAAAAACAAAAAGCAATACATAAACAAAATAAAAAG TTTAATAAAGAAATACAGGTCAGGCGTGGTGATTCACATTTGTAATTCCA GCACTTTGGGAGGCCAAGGCAGGCAGATGGCTTTGAGCCCAAAAGTTCAA GACTAGCCTGGGCAACATGGCAAAACCCCATCTCTACAAAAATTAGCCAG ATGTGGTGGCCCGAATCTGTAGTCCCAGCAACTTGGGAGGCTGAGGTGGG AGGATGACTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCCAAGATCACAC CACTGCACTGTAGCCTGGGCAACATAGCCAGACCCTGTTTCAAAAAAAGA AAAGAAAAGAAAGGAAAAAGGAAAGGAAGTAATAAGGAAAGGAAAAAGGA AAGGAAGGGAAGGGAAGTGAAGGGAAGGGAAGTGAAGGGAAGGGAAAGGA AGGGAGGAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG G	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG01884.hp1 HG02109.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0025 a0002c0004t0001g0009 a0001c0001t0001g0025 a0002c0004t0001g0009	2	174	0.0115	-1200	c.422 others(17): Show c.422+7134_422+8333del		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
MXRA8_chr1_1347691_1363555	1349974	TGGGAGGA others(1193): Show TGGGAGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGA CGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT GAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGG CCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG GCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	-1200	c.24 others(11): Show c.2430_*3629del		MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding					2716		chr1	TogoVar
VAV2_chr9_133756894_133997324	133827249	GCGGGGGC others(1193): Show GCGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGT GGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGG GGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGG GCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGC ATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCAT CGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCACGGGCATCG CCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCC AGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCAC CTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCT ACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTAC CGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCG CTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCT GCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGT GCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGC CCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCC ACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCAC TGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTG GGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGAG GCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGC TGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTG ACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGAC CACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCA CTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACT GAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGA C	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02572.hp2 others(4): Show HG02055.hp1 HG02280.hp1 HG02572.hp2 HG02922.hp2 HG02976.hp1 HG03139.hp2 NA18959.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0001c0010 a0001c0013 others(1): Show a0001c0006 a0001c0010 a0001c0013 a0002c0001	a0001c0006t0030 a0001c0010t0005 a0001c0013t0007 others(1): Show a0001c0006t0030 a0001c0010t0005 a0001c0013t0007 a0002c0001t0001	a0001c0006t0030g0087 a0001c0010t0005g0053 a0001c0010t0005g0137 others(4): Show a0001c0006t0030g0087 a0001c0010t0005g0053 a0001c0010t0005g0137 a0001c0010t0005g0167 a0001c0013t0007g0088 a0001c0013t0007g0096 a0002c0001t0001g0078	7	200	0.0350	-1200	c.449 others(17): Show c.449+5823_449+7022del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
VAV2_chr9_133756894_133997324	133827264	CCTACCGC others(1193): Show CCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGC TACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTA CCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACT GCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGC TGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTG TGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCG CCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCC CACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACT GGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGG GGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGG CTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCT GACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGA CCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACC ACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCAC TGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTG AGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAG CGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCA CGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGG GGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGG CATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCA TCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATC ACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCAC CACCTACCGCTGCGCCCACTGGGGCTGACCACTGACCACGGGCATCGCCA G	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG03471.hp1 others(3): Show HG02258.hp1 HG02258.hp2 HG03471.hp1 HG03516.hp2 NA18747.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0007 others(2): Show a0001c0002 a0001c0003 a0001c0007 a0001c0015 a0002c0001	a0001c0002t0002 a0001c0003t0008 a0001c0007t0002 others(2): Show a0001c0002t0002 a0001c0003t0008 a0001c0007t0002 a0001c0015t0002 a0002c0001t0002	a0001c0002t0002g0028 a0001c0002t0002g0166 a0001c0003t0008g0005 others(3): Show a0001c0002t0002g0028 a0001c0002t0002g0166 a0001c0003t0008g0005 a0001c0007t0002g0130 a0001c0015t0002g0122 a0002c0001t0002g0155	6	200	0.0300	-1200	c.449 others(17): Show c.449+5808_449+7007del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
NR4A1_chr12_52046442_52064503	52048337	GTAATCCC others(1192): Show GTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGA GATCAAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTGCTAAAAAT ACAAAAAAATTAGCTGGCGTGGTGGCAGGCACCTGTAGTCCCAGTGACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACT CCGTCTTAAAAAAAAAAGTTAGTTTTATTTTCTAGGGAAGGCCCTGCTGG GGTGGAGGGAGACATCCTGGGGCAAAGTGGGTGCTAGGTGAGGAAGTCAG CCTGTGACACAGCTGGGATCAGTTCCACCCAGCAAGACTTGCTGTGTGCT CCTGAGCAAAGTGTAGCTCCTCTTGGAACCCTTGACTCCTAATCTGCAAA ATGGGAGGACTTGAATTCTATATGTGGTTTTAAACCTTTTTTTTTTTTAA GCTGTGGAGTCATTTTCCACAAAAGGATTCCACAAAATCTAAGCAAAATC TTACGGAAAAGCCTAAGAGAAAGAAAAGCAAAACTTTGCCTGAAATGAGG TAGGGATCCTGGATGGGTCCAATTGGCATCATCCTGCCCACACTTCACAT TCAACCAGTGGCCTTGAAGGAAGATGGTTTGGAGCAACCCAGAGCTCTCT GCAGATGCATTCACGTTGAGACTGTATGCTGGGATGGAGGGTTCTGGCAG GTTCTGACCAGATGACTGAATGCCATCAGCATTACAGTCACCCCTTGGTT TATGAAGGGGGTTGGCTCCAGGACCCCAACTTGTACTGCGAATACTCAAG TCCCACTGTTGGCCCTGTGGAACCTGTAGATACTAAAAGTCGGCCCTCTG TATATGTGGGTTTTTGGATCCATGTTGGATTGAAAAAAAATCCCCAAATC CCCATATGAGTGGACCTACACAGTTCAAACGTGTTGTTCAAGGGTCAACT GTGTATGAAGACTGCTCCATCTGTGGTGGACAGTGAGGCTTTAGAAAGAG GAGACAGGCAGGCTAATGGATGGTCTTCATGGGTGTGGGAAAGGAGGAGT GGTCACTGGGCGCAGGCAGTTGGTCTGTGGGACCAGTGAGGCATGGGCTG TGGCTGGCAGTAGGAAAGCGGGAGAGGCTGAGTGCAGTGGCTCATGCCTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	422	0.0024	-1199	c.-32 others(11): Show c.-3233_-2035del		NR4A1	ENSG00000123358.20	transcript	ENST00000394825.6	protein_coding					3104		chr12	TogoVar
FRMPD4_chrX_12133473_12729523	12621978	GAAAGAAA others(1191): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAAGAA GGAAAGAAGAAGAAAAGAGGAGAAGAGAGGAGAGGAAAGGAGAGGAGAGG AGAGGAGAGGTGAACTATAAAAAGAACCAAACAGAAATCCTGGAGCTAAA GAATACAATGACAAAACTAAACATTTTAATAGCTTCAACAGCAGACTCAA TTATGCAGAAGAATCAGCAAATGTGAAGACAGGCTATTTGAAATTACCCA GTTAGAGGAACAGAAAGTAAAAAGAATAAAAAAGAGTAAAGGAAGCATAC AGGTCCTATGAGATACCATCAATTGAATGAATATATGCATTATGGGAATA TTAGAAGGAGAAAAGGAAAAAAGGGGAAAAAGCTTATTTAAAGAAATAAT GGCTGAAACGTCCTAAATCTTGGAAGGGATATGGACATCCAGATTTATAC AAATCAAAGGGTCTCAAGCAGAATCAATCCAAAGACTACTCTAAGACACA TTATAACCAAATTTTTAAAAGCCAAACACAGACATAGAATATTGCCCCTA AGAGATATCATTTGAGATATATAAATTACATGAAAAATAATACAAAATAA TCACCTTAATGAAGCTCAGTGGGATACAAGAGAACACAGACCACCAAGAA AAACAAAAAGCAATACATAAACAAAATAAAAAGTTTAATAAAGAAATACA GGTCAGGCGTGGTGATTCACATTTGTAATTCCAGCACTTTGGGAGGCCAA GGCAGGCAGATGGCTTTGAGCCCAAAAGTTCAAGACTAGCCTGGGCAACA TGGCAAAACCCCATCTCTACAAAAATTAGCCAGATGTGGTGGCCCGAATC TGTAGTCCCAGCAACTTGGGAGGCTGAGGTGGGAGGATGACTTGAGCCCA GGAGGCAGAGGTTTCAGTGAGCCAAGATCACACCACTGCACTGTAGCCTG GGCAACATAGCCAGACCCTGTTTCAAAAAAAGAAAAGAAAAGAAAGGAAA AAGGAAAGGAAGTAATAAGGAAAGGAAAAAGGAAAGGAAGGGAAGGGAAG TGAAGGGAAGGGAAGTGAAGGGAAGGGAAAGGAAGGGAGGAAGAAAGAAA GAAAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19030.hp1 NA19043.hp1 others(2): Show HG02922.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0002c0004 others(1): Show a0001c0006 a0002c0003 a0002c0004 a0002c0015	a0001c0006t0001 a0002c0003t0003 a0002c0004t0001 others(1): Show a0001c0006t0001 a0002c0003t0003 a0002c0004t0001 a0002c0015t0001	a0001c0006t0001g0065 a0002c0003t0003g0074 a0002c0004t0001g0012 others(2): Show a0001c0006t0001g0065 a0002c0003t0003g0074 a0002c0004t0001g0012 a0002c0004t0001g0046 a0002c0015t0001g0004	5	174	0.0287	-1198	c.422 others(17): Show c.422+7099_422+8296del		FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
GAL3ST2_chr2_241771822_241809287	241805560	TCCCCCCT others(1191): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0229 a0003c0003t0001g0229	1	314	0.0032	-1198	c.13 others(11): Show c.1395_*2592del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1274		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805560	TCCCCCCT others(1191): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	319	0.0031	-1198	c.-37 others(11): Show c.-3717_-2520del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3632		chr2	TogoVar
RNF38_chr9_36331400_36405269	36362884	GGCCTCCC others(1191): Show GGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGGCACCACACCCGGCCCT AATCTGTTTTTCTTTATGGTTGAACCACTGAAGCTTGAACCCCAACCTAG TCTTTTGTTGGTTAAATACCTTTTCGCTGTCTTCACGGTGATTAATTGTT TCAGTCTATGAGACAGGGGTCTTGCTCTATCATCCATCCATCCATCCATC CATCCTTATCTACCTATGTATCTATCTATGAGATGGGGGTCTCACTCTGT CACCCAGGCTGAAGTACAATGGCACAATCACTTGGGCTCGAGGGATCCTC CAGCCTCCGCCTCCTAAGTAGATGGGACTACAGTGGAGCACCACAGTGAG AACTTTTGATGAATACAAACATTTCCAAAAAACAGACATAGAAAGCCACT ATAAACAATCCTGTAGAAATTTTTTTGTGTGGACATATGCACTCAATTCT CTTGATTACACTAAGAATGGAATTGCTGGATTACTGGGTAGGTGTATGTT TGACATGATTAGAAACTGACCAACAGGTTTCCAAAAGATCATGCTACTTT TTACTTCCACTAGCAATAGAATTGTCAGTCTTTTTAATTTTGGCCCTCAA AATGTCATGTTTTCATTTGGTCACCCAACTGTCCCAGAACCACTTATTAG CAATTCTGTCTTGTTCCAACTCACCTACATTCATCAAGTCATATGCCATG TATATATACTCATGCGTGGCTTAACGATGGAGATACATTCTGAGAAATGT GTCATTAGGTGATTTCATTGTTGTACTAACATCATAGAGTGTACTTATAC AAACCAAGATGGCAGAGAGCCTACTACACACCTAGGCTTATATGTTATAG CCTATTGCCCCTAGGCTACAAACCTGTATAGCATGTTGCTGTTGCTATAC GAAACCCTGTAGGTAATTATAACACAAGGGAAGTACAGTTAGCCCTTGAA CAACATGAGTTTGAACTGCATGGGTCTACTTATATGCAGATTTTTTTTTT TTTTTTTTTGGAGGTGCAATCTCGCTCACTGCCACCACCTCCTGGGTTCA AGCATTTCTCCTGCCTCAGACTCCCGAGTACCTGGGATAGGCACCCACCA CCACGTCTGGCTAACTTTCGTGTTTTTAGTAGAGATGGGGTGTCACCATG TTGGCCAGGCTGGCTCGAACTCTTGACCTCAAGGGATCTGCCCACTTCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(185): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02148.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19075.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(180): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0383 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0391 a0001c0001t0002g0392 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0003g0230 a0001c0001t0003g0384 a0001c0001t0009g0087 a0001c0001t0009g0092 a0001c0001t0009g0155 a0001c0001t0011g0238 a0001c0001t0011g0241 a0001c0001t0017g0178 a0001c0001t0019g0216 a0001c0001t0020g0108 a0001c0001t0021g0038 a0001c0001t0022g0097	188	402	0.4677	-1198	c.570 others(17): Show c.570+5637_571-4943del		RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	4/11						chr9	TogoVar
TUBA4B_chr2_219248243_219277197	219268276	GTGGAGAG others(1191): Show GTGGAGAGGGGGTTTCACCATGTTGGTCAGGATGGTCTCGAGCTCCTGAC CTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCT TGAGCCACTGCGCCCAGCCTCAATTCATTACCTTCTCTTACTATGACATC AGGGATTGAGGGTGGGAAATTGGAAGGGGAACCCAACATGCATGGCACAC CCTAGTGTGTGTTAGGCAGTGGGCCAGGCACTTTGCATGCATTCTTTCAT TTAATTCTCATAGTTTTTCTAGGAGGGGCTCTTATTATTGTCTACATTTC AAAAGGAGAACATTGACAAAGAGGTTAAGATTTTTGCTCAAGACAAGTAG AGAAGTAATTGGGCTGGAATACAGATTATTTATGGATTAATCTCAGTCAT CTAAAAATCATGAAAAGTCAGGCCTTTGTGTTATATAAAAATAGTCAATG AAGTGTTACATTTTTGGAGAAGTCATCCTCATTAAACAATTAAGAAATAT TTCAGGAATGCAAAAAGGTATAAATAATAACATGATAGGCTGGGCGGCGG TGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCCAAGGCAGGTAGACT GCTTGACCCCAGGAGTTTAAGACCCACTTGGGAAAGATGGCGAGACCTGT CTCTACAAAAAAATTTAAAACTTAGCCAGGCATGGTGGTGCATGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGACAGGAGGATCCCTTGAGCCCAGGAG TCCAAGACTGCTGTAGTTAACTATGATCACATCACTGTACTCTAGCCTGG GTGACAAAGTGAGATTCTGTCTCAAGAAAAAAAGAAAAGAATAATGTGAT GAACAGCAGCTATCAAGCTTGAGAAATAGAATCTGTCTCCAATTGCATCT ATCTGCTTCCCCTGCCAGAGAGCACCATTATTCCAAATTTGGAGTTAATG TCTCCTGTGCTTTATCTTTGTACTATTTTCCCTTGCTTCCCTCACCAATG GCTCCTAATTTCTTTCTGGACACTGGTGGGTAGATTATCTTGCACTTCTA GATTCATTCGATTCCTTCAATGTTGCTCATTGAGACAGGCACTGAGCAAG AGTCTATAATCTCAGGACTGCCCGCATCTTCTGCTTCCCCCAATGATTTT GGCCCAGCCCCTACAGCCGATGCCTGTTGCTCCTCAGTGCCACCAGTAA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	350	0.0029	-1198	c.58+ others(14): Show c.58+1711_59-728del		TUBA4B	ENSG00000243910.9	transcript	ENST00000490341.3	protein_coding	2/3						chr2	TogoVar
ACAN_chr15_88798436_88880353	88855795	GCTTCCTT others(1190): Show GCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTA GAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCC TGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG CTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTA GAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGA AGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTT CTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGG CTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACAT CAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAG AGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCT GGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGC TGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAG AGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAA GTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTC TGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGC TTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATC AGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGA GGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTG GAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACT GCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGA GACTACTGCCCCTGGAGTAGATGAGATCAGTGGGCTTCCTTCTGGAGAAG TTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCT GGAGAAGTTCTAGAGACTTCTACCTCTGCGGTAGGGGACCTCAGTGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02109.hp1 HG02109.hp1	a0140 a0140	a0140c0059 a0140c0059	a0140c0059t0005 a0140c0059t0005	a0140c0059t0005g0298 a0140c0059t0005g0298	1	368	0.0027	-1197	c.322 others(9): Show c.3224_4420del	p.Glu others(15): Show p.Glu1075_Gly1473del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3605/8960	3224/7707	1075/2568		INFO_REALIGN_3_PRIME	chr15	TogoVar

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