Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NCEH1_chr3_172625249_172716067	172691440	T T	TGACTTTC others(1013): Show TGACTTTCGGTCACTCATCAATCTATTCACTCACTCAGCAAATATGTGAG TGTTTACTTTGTGCCAGGTACTTTTAGGAGTTGTGCACACAGTGGGGAAG TCCACAGACAAGCCCTCCCCTCCAGAGCTTTCAGCCAGGCAGTGGAGATG GAATTACTTAGGAGTAATTAAACAAATCCAGTGACAGGAAGAACTGGCAA ATGAGGGTAAAGAAAGAACAGGGTGCTGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTGGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGG AGATCGAGACCATCCTGGCTAACATGGTGAAACTCCATCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCAGCACCTGTAGTCTCATCTACTCG GGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAAT ATGAATGAATGTATTGCTGTTTATGTTTCCTTTCATTGTTGCTAAGTTCA TGCCTTCTGAAGAAGCAGGCAGCTTACCCCTTACCATTTTCCTGCTTAGA CTCTTCATGGAAAGGAAACAGGAATCCAGGGCAAGCACAAGTACTTTTTT TTCTTTTTTTTTTTTGGAGACAGGGTCTTGCTTTGTCACCCAGGCTGGAG TGCAATGGCGCAATCTTGGCTTACTGCAATCTCTGCCTCCCGGGTTCAAG CGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGTGCC ACAGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGGTTTCACCA TGTTGCCAGGGCTGGTCTCGAACTCCTGGCCTCCAGTGATCCACCCACCT CAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCACCTGGCTG CAAGCATATTTTGTTGGTCAATTCCACTGAGGCTGCCTTATTTGAGAAAC GGGATGCACAGAGACTACTTCCTGTCAGGGTGTTATCACCAATACCCTCT CTACTGTAGAAGCTGTCCAGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	332	0.0030	1020	c.138 others(1039): Show c.138+19406_138+19407insCCTGGACAGCTTCTACAGTAGAGAGG GTATTGGTGATAACACCCTGACAGGAAGTAGTCTCTGTGCATCCCGTTTC TCAAATAAGGCAGCCTCAGTGGAATTGACCAACAAAATATGCTTGCAGCC AGGTGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTG GGTGGATCACTGGAGGCCAGGAGTTCGAGACCAGCCCTGGCAACATGGTG AAACCCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGCTGTGGCAC GCACCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGA ACCCGGGAGGCAGAGATTGCAGTAAGCCAAGATTGCGCCATTGCACTCCA GCCTGGGTGACAAAGCAAGACCCTGTCTCCAAAAAAAAAAAAGAAAAAAA AGTACTTGTGCTTGCCCTGGATTCCTGTTTCCTTTCCATGAAGAGTCTAA GCAGGAAAATGGTAAGGGGTAAGCTGCCTGCTTCTTCAGAAGGCATGAAC TTAGCAACAATGAAAGGAAACATAAACAGCAATACATTCATTCATATTGC AAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGT AGATGAGACTACAGGTGCTGCCACCACGCCCGGCTAATTTTTGTATTTTT AGTAGAGATGGAGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCGCCTGCCTCAGCCTCCCCAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCAGCACCCTGTTCTTTCTTTACCCTCATTTGCC AGTTCTTCCTGTCACTGGATTTGTTTAATTACTCCTAAGTAATTCCATCT CCACTGCCTGGCTGAAAGCTCTGGAGGGGAGGGCTTGTCTGTGGACTTCC CCACTGTGTGCACAACTCCTAAAAGTACCTGGCACAAAGTAAACACTCAC ATATTTGCTGAGTGAGTGAATAGATTGATGAGTGACCGAAAGTC	NCEH1	ENSG00000144959.11	transcript	ENST00000475381.7	protein_coding	1/4			chr3	TogoVar
NOTCH1_chr9_136489433_136551048	136528443	G G	GGGGGGAT others(1013): Show GGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGG ACAGTGAGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGG TGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGTGGGCAGG GACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGT GAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCG ATGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGG CAGGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACA GTGGGGCGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAG GGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAG TGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGG GGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGTTGGGGATGA GCAGGGACAGTGCGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGG ACAGTGCGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTG TTGGGGATGAGCAGGGACAGTGCGGGGGATGGGCAGGGACAGTGGGGGGG ATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGC AGGGACAGTGCGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGAC AGTGAGGGGGATGGGCAGGGACAGTGTTGGGGATGAGCAGGGACAGTGCG GGGGATGGGCAGGGACAGTGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0008 a0001c0018t0008	a0001c0018t0008g0024 a0001c0018t0008g0024	1	324	0.0031	1020	c.141 others(1037): Show c.141-4465_141-4464insTCACTGTCCCTGCCCATCCCCCGCACTG TCCCTGCTCATCCCCAACACTGTCCCTGCCCATCCCCCTCACTGTCCCTG CCCATCCCCCCCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCCCATC CCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCC ACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCTCATCCCCAACACTGTC CCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCC CATCCCCCTCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCTCATCCC CAACACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCAC TGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCC TGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCA TCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCCC ACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCGCCCCACTGTCCCT GCCCACCCCCCACTGTCCTTGCCCATCCCCCTCACTGTCCCTGCCCATCC CCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCATCGCCCCC CACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCC CTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCC ACCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCC ACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACCGTCCC TGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCTCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCC ACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136528443	G G	GGGGGGAT others(1013): Show GGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGG ACAGTGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGG TGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGTGGGCAGG GACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGT GAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCG ATGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGG CAGGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACA GTGGGGCGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAG GGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAG TGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGG GGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGTTGGGGATGA GCAGGGACAGTGCGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGG ACAGTGCGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTG TTGGGGATGAGCAGGGACAGTGCGGGGGATGGGCAGGGACAGTGGGGGGG ATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGC AGGGACAGTGCGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGAC AGTGAGGGGGATGGGCAGGGACAGTGTTGGGGATGAGCAGGGACAGTGCG GGGGATGGGCAGGGACAGTGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01081.hp2 others(9): Show HG01070.hp1 HG01071.hp1 HG01081.hp2 HG02083.hp2 HG02135.hp2 HG02273.hp2 HG02647.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0018 a0001c0001 a0001c0003 a0001c0018	a0001c0001t0004 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0001t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0018t0001	a0001c0001t0004g0128 a0001c0003t0001g0249 a0001c0003t0001g0280 others(9): Show a0001c0001t0004g0128 a0001c0003t0001g0249 a0001c0003t0001g0280 a0001c0003t0001g0287 a0001c0003t0002g0046 a0001c0003t0002g0051 a0001c0003t0002g0052 a0001c0003t0008g0007 a0001c0003t0008g0008 a0001c0003t0008g0011 a0001c0003t0008g0012 a0001c0018t0001g0193	12	324	0.0370	1020	c.141 others(1037): Show c.141-4465_141-4464insTCACTGTCCCTGCCCATCCCCCGCACTG TCCCTGCTCATCCCCAACACTGTCCCTGCCCATCCCCCTCACTGTCCCTG CCCATCCCCCCCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCCCATC CCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCC ACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCTCATCCCCAACACTGTC CCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCC CATCCCCCTCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCTCATCCC CAACACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCAC TGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCC TGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCA TCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCCC ACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCGCCCCACTGTCCCT GCCCACCCCCCACTGTCCTTGCCCATCCCCCTCACTGTCCCTGCCCATCC CCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCATCGCCCCC CACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCC CTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCC ACCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCC ACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACCGTCCC TGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCC ACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136528443	G G	GGGGGGAT others(1013): Show GGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGG ACAGTGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGG TGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGTGGGCAGG GACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGT GAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCG ATGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGG CAGGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACA GTGGGGCGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAG GGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAG TGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGG GGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGTTGGGGATGA GCAGGGACAGTGCGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGG ACAGTGCGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTG TTGGGGATGAGCAGGGACAGTGCGGGGGATGGGCAGGGACAGTGGGGGGG ATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGC AGGGACAGTGCGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGAC AGTGAGGGGGATGGGCAGGGACAGTGTTGGGGATGAGCAGGGACAGTGCG GGGGATGGGCAGGGACAGTGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG02523.hp2 others(2): Show HG00140.hp2 HG01070.hp2 HG02523.hp2 HG02738.hp2 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0031 a0001c0037 a0001c0003 a0001c0031 a0001c0037	a0001c0003t0001 a0001c0003t0008 a0001c0003t0030 others(2): Show a0001c0003t0001 a0001c0003t0008 a0001c0003t0030 a0001c0031t0001 a0001c0037t0002	a0001c0003t0001g0288 a0001c0003t0008g0013 a0001c0003t0030g0283 others(2): Show a0001c0003t0001g0288 a0001c0003t0008g0013 a0001c0003t0030g0283 a0001c0031t0001g0276 a0001c0037t0002g0109	5	324	0.0154	1020	c.141 others(1037): Show c.141-4465_141-4464insTCACTGTCCCTGCCCATCCCCCGCACTG TCCCTGCTCATCCCCAACACTGTCCCTGCCCATCCCCCTCACTGTCCCTG CCCATCCCCCCCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCCCATC CCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCC ACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCTCATCCCCAACACTGTC CCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCC CATCCCCCTCACTGTCCCTGCCCATCCCCCGCACTGTCCCTGCTCATCCC CAACACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCAC TGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCC TGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCA TCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCCC ACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCGCCCCACTGTCCCT GCCCACCCCCCACTGTCCTTGCCCATCCCCCTCACTGTCCCTGCCCATCC CCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCATCGCCCCC CACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCC CTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCC ACCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCC ACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACCGTCCC TGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCC ACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OR2T6_chr1_248370746_248396811	248383299	T T	TGTGTTTC others(1013): Show TGTGTTTCCTAATGTTATTGTCATGGGTAAAGCACTGCACTAGCCTGAGT GTGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATCATCATGGAGAAAG CACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTG TTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATC CTGGTGTGTTTCCTAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCT GAGTGTGCTCATCCTCTCCTGAAGTGTTTCCTAATGTTATTGTCATGGGT AAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGAAGTGTTTCCT AATGTTATTGTCATGGGTAAAGCACTGCACTAGCCTGAGTGTGCTCATCC TATCCTGATGTGTTTCCTAGTGTTATCGTCATGGAGAAAGCACTGCACTA GCCTGAGTGTGCTCATCCTATCCTGAAGTGTTTCCTAGTGTTATCATCAT GGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGATGTGTT TCCTAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTC ATCCTCTCCTGAAGTGTTTCCTAATGTTATTGTCATGGGTAAAGCACTGC ACTAGCCTGAGTGTGCTCATCCTATCCTGAAGTGTTTCCTAATGTTATTG TCATGGGTAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGATG TGTTTCCTAGTGTTATCGTCATGGAGAAAGCACTGCACTAGCCTGAGTGT GCTCATCCTATCCTGATGTGTTTCCTAGTGTTATCATCATGGAGAAAGCA CTGCACTAGCCTGAGTGTGCTCATCCTATCCTGGTGTGTTTCCTAGTGTT ATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTCTCCT GAAGTGTTTCCTAATGTTATTGTCATGGGTAAAGCACTGCACTAGCCTGA GTGTGCTCATCCTATCCTGAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03831.hp1 HG03669.hp1 HG03831.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0039 a0003c0003t0003g0039	2	403	0.0050	1020	c.-15 others(1039): Show c.-158-1326_-158-1325insATCATGGAGAAAGCACTGCACTAGCC TGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATCATCATGGA GAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGGTGTGTTTCC TAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATC CTCTCCTGAAGTGTTTCCTAATGTTATTGTCATGGGTAAAGCACTGCACT AGCCTGAGTGTGCTCATCCTATCCTGAAGTGTTTCCTAATGTTATTGTCA TGGGTAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGATGTGT TTCCTAGTGTTATCGTCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCT CATCCTATCCTGAAGTGTTTCCTAGTGTTATCATCATGGAGAAAGCACTG CACTAGCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATC ATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTCTCCTGAA GTGTTTCCTAATGTTATTGTCATGGGTAAAGCACTGCACTAGCCTGAGTG TGCTCATCCTATCCTGAAGTGTTTCCTAATGTTATTGTCATGGGTAAAGC ACTGCACTAGCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTGT TATCGTCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTATCC TGATGTGTTTCCTAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTG AGTGTGCTCATCCTATCCTGGTGTGTTTCCTAGTGTTATCATCATGGAGA AAGCACTGCACTAGCCTGAGTGTGCTCATCCTCTCCTGAAGTGTTTCCTA ATGTTATTGTCATGGGTAAAGCACTGCACTAGCCTGAGTGTGCTCATCCT ATCCTGAAGTGTTTCCTAATGTTATTGTCATGGGTAAAGCACTGCACTAG CCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATC	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTP4A3_chr8_141387021_141437454	141429707	G G	GCACAGTC others(1013): Show GCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAG CGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGA GCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTG AGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGT GAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGG TGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGG GTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAG GGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACA GGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGATGGCGGGGAC AGGGTGAGCACACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGA CAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGG ACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGG CGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTG GCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGT GGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGG TGGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAG ATGGCGGGGACAGGGTGAGCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18906.hp1 HG02630.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0034 a0001c0001t0011g0035 a0001c0001t0011g0034 a0001c0001t0011g0035	2	323	0.0062	1020	c.405 others(1037): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCAC GTCCCCGCTGTAAGGACCAGATGGCGGGGACAGGGTGAGCACACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGT CCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAG TCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACA GTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCAC AGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCA CAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGC ACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCG CACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGC GCACAGCCCACGTCCCCGCTGTAAGGACCAGATGGCGGGGACAGGGTGAG CACACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGA GCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(1013): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTG ATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGAT GGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGT GATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGA TGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTG GTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGT GATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGA TGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTG GTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATA ATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGAT GGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGG TGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG GTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGT GATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGG TAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAATGG TGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTG ATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTGGT AATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAG TGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0007 a0001c0022t0001g0007	1	374	0.0027	1020	c.-46 others(1031): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATG ATGATGGTGATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAAT GGTGATGGTGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGG TGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGG TGGTGGTAATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATA ATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGT GATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGA TGGTGATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTG ATGGTGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGAT GATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGT GGTAATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGG TGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGT GATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGG TGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATG GTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTA ATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGT GATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGG TGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RAB11FIP3_chr16_420649_528011	492363	T T	TCCCGGGA others(1013): Show TCCCGGGAGACCCGAGGCCGCCCAGAGCCCCCCCGGGAGACCCGAGGCCG CCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAG ACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGC CCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAG GCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCC GGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCC AGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACC CGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCC TTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGG CCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTTCCC GGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGAC CCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCC TTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGC CGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGG AGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCC CGGGAGACCCGAGGCCGCCCAGAGCCCTTCCGGGAGACCCGAGGCCGCCC AGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGAC CCGAGGCCGCCCAGAGCCCTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0041 a0001c0002t0009g0041	1	295	0.0034	1020	c.126 others(1039): Show c.1265+3392_1265+3393insCCCCGGGAGACCCGAGGCCGCCCAGA GCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGA GGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCC CGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCC CAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCC CTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGC CGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCG GGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCC AGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGG CCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCG GGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCA GGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCC GAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAG ACCCGAGGCCGCCCAGAGCCCTTCCGGGAGACCCGAGGCCGCCCAGGGCC CTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGG CCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492455	T T	TCCCCGGG others(1013): Show TCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCC CGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCC CAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGA CCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGGG AGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGGAGACC CGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGC CGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCG GGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCA GGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACC CGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGGGAG ACCCGAGGCCGCCCAGAGCCC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	295	0.0034	1020	c.126 others(1039): Show c.1265+3455_1265+3456insCCCCGGGAGACCCGAGGCCGTCCAGA GCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCC AGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCC TTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGG CCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGG AGACCCGAGGCCGCCCAGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCG AGGCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGC CCAGAGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGA GACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCC GAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTT CCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCC GCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAG ACCCGAGGCCGCCCAGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAG GCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(1013): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	304	0.0033	1020	c.66+ others(1035): Show c.66+3483_66+3484insGCTAACTTATAACATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGN_chrX_47073443_47098313	47089400	A A	AATATATT others(1013): Show AATATATTTATATTATATAATTATAATATTAATATAATATATTTATATTA TATAATTATAATATTAATATAATATATTTATATTATATAATTATAATTAT ATAATATATTTATATTATATAAATATAATATAATTATATAATATATTTAT ATTATATAAATATAATATAATTATATAATATAATTATATTATATAAATAT AATATAATTATATAATTATATAATATAATTATATTATATAAATATAATAA TATAATATAATTATATAAATATAATAATATAATATAATTATATAAATATA ATAATATAATATAATAATATAATATAATATAATTATATTTTTATATAATA TAATTATATTATATAATTATATAATATAAATATATTATATTATGTAATTA TATAATATAATATAATTATATTATATTATATAATTACATAATATAATATA ATTATATTATATAATTATATAATATAATATAATATAATTATATTATATAA TTATATAATAAATATAATATAATTATATTATATAATTATATTATAAATAT AATATAATTATATTATATAATTATATAATAAATATAATATAATTATATTA TATAATTATATAATAAATATAATATAATTATATTATATAATTATATAATA AATATAATATAATTATATTATATAATTATATAATAAATATAATATAATTA TATTATATAATTATATAATAAATATAATATAATTATATTATATAATTATA TAATAAATATAATATAATTATATTATATAATTATATAATAAATATAATAT AATTATATTATATAATTATATAATAAATATAATATAATTATATTATATAA TTATATAATAATATAATATAATTATATTATATAATTATATAATAATATAA TATAATTATATTATATAATATGATATAATATAATATAATATAATATAATA TAATATAATTATATTATATAATTATATAATATAATATAATATAATTATAT TATATGATTATATATAATTAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	304	0.0033	1020	c.347 others(1035): Show c.347-370_347-369insTTATATTATATAATTATAATATTAATATAA TATATTTATATTATATAATTATAATATTAATATAATATATTTATATTATA TAATTATAATTATATAATATATTTATATTATATAAATATAATATAATTAT ATAATATATTTATATTATATAAATATAATATAATTATATAATATAATTAT ATTATATAAATATAATATAATTATATAATTATATAATATAATTATATTAT ATAAATATAATAATATAATATAATTATATAAATATAATAATATAATATAA TTATATAAATATAATAATATAATATAATAATATAATATAATATAATTATA TTTTTATATAATATAATTATATTATATAATTATATAATATAAATATATTA TATTATGTAATTATATAATATAATATAATTATATTATATTATATAATTAC ATAATATAATATAATTATATTATATAATTATATAATATAATATAATATAA TTATATTATATAATTATATAATAAATATAATATAATTATATTATATAATT ATATTATAAATATAATATAATTATATTATATAATTATATAATAAATATAA TATAATTATATTATATAATTATATAATAAATATAATATAATTATATTATA TAATTATATAATAAATATAATATAATTATATTATATAATTATATAATAAA TATAATATAATTATATTATATAATTATATAATAAATATAATATAATTATA TTATATAATTATATAATAAATATAATATAATTATATTATATAATTATATA ATAAATATAATATAATTATATTATATAATTATATAATAAATATAATATAA TTATATTATATAATTATATAATAATATAATATAATTATATTATATAATTA TATAATAATATAATATAATTATATTATATAATATGATATAATATAATATA ATATAATATAATATAATATAATTATATTATATAATTATATAATATAATAT AATATAATTATATTATATGATTATATATAATTACATATAT	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
RGN_chrX_47073443_47098313	47089400	A A	AATATATT others(1013): Show AATATATTTATATTATATAATTATAATATTAATATAATATATTTATATTA TATAATTATAATATTAATATAATATATTTATATTATATAATTATAATTAT ATAATATATTTATATTATATAAATATAATATAATTATATAATATATTTAT ATTATATAAATATAATATAATTATATAATATAATTATATTATATAAATAT AATATAATTATATAATTATATAATATAATTATATTATATAAATATAATAA TATAATATAATTATATAAATATAATAATATAATATAATTATATAAATATA ATAATATAATATAATAATATAATATAATATAATTATATTTTTATATAATA TAATTATATTATATAATTATATAATATAAATATATTATATTATGTAATTA TATAATATAATATAATTATATTATATTATATAATTACATAATATAATATA ATTATATTATATAATTATATAATATAATATAATATAATTATATTATATAA TTATATAATAAATATAATATAATTATATTATATAATTATATTATAAATAT AATATAATTATATTATATAATTATATTATAAATATAATATAATTATATTA TATAATTATATAATAAATATAATATAATTATATTATATAATTATATAATA AATATAATATAATTATATTATATAATTATATAATAAATATAATATAATTA TATTATATAATTATATAATAAATATAATATAATTATATTATATAATTATA TAATAAATATAATATAATTATATTATATAATTATATAATAAATATAATAT AATTATATTATATAATTATATAATAAATATAATATAATTATATTATATAA TTATATAATAATATAATATAATTATATTATATAATTATATAATAATATAA TATAATTATATTATATAATATGATATAATATAATATAATATAATATAATA TAATATAATTATATTATATAATTATATAATATAATATAATATAATTATAT TATATGATTATATATAATTAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	304	0.0033	1020	c.347 others(1035): Show c.347-370_347-369insTTATATTATATAATTATAATATTAATATAA TATATTTATATTATATAATTATAATATTAATATAATATATTTATATTATA TAATTATAATTATATAATATATTTATATTATATAAATATAATATAATTAT ATAATATATTTATATTATATAAATATAATATAATTATATAATATAATTAT ATTATATAAATATAATATAATTATATAATTATATAATATAATTATATTAT ATAAATATAATAATATAATATAATTATATAAATATAATAATATAATATAA TTATATAAATATAATAATATAATATAATAATATAATATAATATAATTATA TTTTTATATAATATAATTATATTATATAATTATATAATATAAATATATTA TATTATGTAATTATATAATATAATATAATTATATTATATTATATAATTAC ATAATATAATATAATTATATTATATAATTATATAATATAATATAATATAA TTATATTATATAATTATATAATAAATATAATATAATTATATTATATAATT ATATTATAAATATAATATAATTATATTATATAATTATATTATAAATATAA TATAATTATATTATATAATTATATAATAAATATAATATAATTATATTATA TAATTATATAATAAATATAATATAATTATATTATATAATTATATAATAAA TATAATATAATTATATTATATAATTATATAATAAATATAATATAATTATA TTATATAATTATATAATAAATATAATATAATTATATTATATAATTATATA ATAAATATAATATAATTATATTATATAATTATATAATAAATATAATATAA TTATATTATATAATTATATAATAATATAATATAATTATATTATATAATTA TATAATAATATAATATAATTATATTATATAATATGATATAATATAATATA ATATAATATAATATAATATAATTATATTATATAATTATATAATATAATAT AATATAATTATATTATATGATTATATATAATTACATATAT	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
RIMBP2_chr12_130391133_130721299	130646046	T T	TCCACCTC others(1013): Show TCCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCAC CACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCATCA CCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCTCCACC TCCCTCTCCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCTCCACCTC CCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTCCC TCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCTCCACCTCCCTC TCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCAC CACCTGCCTCACCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCA CCTGCCTCACCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCTCCACC TCCCTCACCACCTGCCTCTCCACCTCCCTCTCCACCTCCCTCTCCACCTC CCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCTCCACCTCCC TCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTGCCTC ACCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCAC CACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCA CCTCCCTCTCCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACC TCCCTCACCACCTGCCTCACCACCTCCCTCACCACCTCCCTCTCCACCTC CCTCACCACTTCCCTCTCCACCTCCCTCACCACCTCCCTCTCCACCTCCC TCACCACTTCCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTC ACCACTTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTGCCTCAC CACCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACTTCCCTCTCCA CCTCCCTCACCACCTGCCTCA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	180	0.0056	1020	c.-35 others(1041): Show c.-351-17591_-351-17590insTGAGGCAGGTGGTGAGGGAGGTGG AGAGGGAAGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTG AGGCAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAAGTGGTGAG GGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGAGAGGGAAGTGGTGAGGG AGGTGGAGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAG GTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGCAGGTGGTGAGGGAGGT GGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGG TGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGTG AGGCAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGTGAG GCAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGG AGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAG GTGGAGAGGGAGGTGGAGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGT GGAGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGTGAGGCAGGTGG TGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGTGAGGCAGGTGGTG AGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAG GGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGG AGGTGGTGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGAGAGGGAG GTGGAGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGT GGAGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGA TGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTG AGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGAGAGGGAGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RXRA_chr9_134321455_134445585	134394154	G G	GGTGATGG others(1013): Show GGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGTTGATGGTGG TAGTCGTGGCGGTGATGATGGTGATGGTGGTGGTGATGGTGATGTTAATG TTGATGTGATCATGGTATTGATGGTAGTGGTGATGGTGGTGATGTACATG GTGGTGGTGACGGTGATGATATTAATGTTGGTGATGGTGGTGATGGTGTT GATGTTGATGGTGGTGATTATGGTGATCCTAGTGGTGATGATGGTGGTGA CAATGGTGATGATGGTGATCGTAGTGATGGTGGTGATGGTAATGGTAGTG ATGTTGATGACAGTGATGTTTATGGTGTTGATGTTGATGCTGGTGATGAT GGTGTTGTTAATGTTGGTGATGATGGTAGTGGTGATGGTAGTGATGATGT TGTGGTGATGATGGTGATGATGGTGATCGTAGTGATGGTGGTGATGGTAA TGGTAGTGATGTTGATGGCAGTGATGTTTATGGTGTTGATGTTGATGCTG GTGATGATGGTGTTGTTAATGTTGGTGATGATGGTAGTGGTGATGGTAGT GATGGTAGTGATGACGCTGGTGATGATGGTAGTGATGATGCTGGTGATGA TGGTGATGTTAATGTTGGTGATGATGGTAGTGGTGATGGTAGTGTTGATG GTGATGATGGTGATGATGCTGGTGATGATGGTGATGTGGTGATGATGGTG ATGATGGTGATCGTAGTGATGGTGGTGATGGTAATGGTAGTGATGTTGAT GACAGTGATGTTGATGGTGTCGATGTTGATGCTGGTGATGATGGTGTTGT TAATGTTGGTGATGATGGTAGTGGTGAAGGTAGTGATGGTAGTGATGATG GTGGTGATGATGGTGATGATGGTGATGTTAATGACGATGGTGATGGTGAT CGTAGTGATAGTGGTGGTGGTGGTAATGGTGGTGATGTTGATGACAGTGA TGTTGATGGTGATGATGATGGTGTTGATGTTGATCCTGGTGATGATGGTG ATGTTAATGTTGATGATGGTA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp2 HG02976.hp2 others(1): Show HG02717.hp2 HG02809.hp2 HG02976.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0008 a0001c0001t0026 a0001c0001t0052 others(1): Show a0001c0001t0008 a0001c0001t0026 a0001c0001t0052 a0001c0004t0005	a0001c0001t0008g0087 a0001c0001t0026g0127 a0001c0001t0052g0023 others(1): Show a0001c0001t0008g0087 a0001c0001t0026g0127 a0001c0001t0052g0023 a0001c0004t0005g0126	4	232	0.0172	1020	c.29- others(1035): Show c.29-7466_29-7465insGTGATGGTGATGGTGGTGGTGATGATGTTG ATGGTGGTAGTCGTGGCGGTGATGATGGTGATGGTGGTGGTGATGGTGAT GTTAATGTTGATGTGATCATGGTATTGATGGTAGTGGTGATGGTGGTGAT GTACATGGTGGTGGTGACGGTGATGATATTAATGTTGGTGATGGTGGTGA TGGTGTTGATGTTGATGGTGGTGATTATGGTGATCCTAGTGGTGATGATG GTGGTGACAATGGTGATGATGGTGATCGTAGTGATGGTGGTGATGGTAAT GGTAGTGATGTTGATGACAGTGATGTTTATGGTGTTGATGTTGATGCTGG TGATGATGGTGTTGTTAATGTTGGTGATGATGGTAGTGGTGATGGTAGTG ATGATGTTGTGGTGATGATGGTGATGATGGTGATCGTAGTGATGGTGGTG ATGGTAATGGTAGTGATGTTGATGGCAGTGATGTTTATGGTGTTGATGTT GATGCTGGTGATGATGGTGTTGTTAATGTTGGTGATGATGGTAGTGGTGA TGGTAGTGATGGTAGTGATGACGCTGGTGATGATGGTAGTGATGATGCTG GTGATGATGGTGATGTTAATGTTGGTGATGATGGTAGTGGTGATGGTAGT GTTGATGGTGATGATGGTGATGATGCTGGTGATGATGGTGATGTGGTGAT GATGGTGATGATGGTGATCGTAGTGATGGTGGTGATGGTAATGGTAGTGA TGTTGATGACAGTGATGTTGATGGTGTCGATGTTGATGCTGGTGATGATG GTGTTGTTAATGTTGGTGATGATGGTAGTGGTGAAGGTAGTGATGGTAGT GATGATGGTGGTGATGATGGTGATGATGGTGATGTTAATGACGATGGTGA TGGTGATCGTAGTGATAGTGGTGGTGGTGGTAATGGTGGTGATGTTGATG ACAGTGATGTTGATGGTGATGATGATGGTGTTGATGTTGATCCTGGTGAT GATGGTGATGTTAATGTTGATGATGGTAGTGATGGTGGTG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
SDK1_chr7_3296252_4274000	3976136	A A	AGGGTCCC others(1013): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGTCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCC TCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGG TCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAC GGTCCTCCAGAGAATCACTGG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0056 a0002c0009t0056	a0002c0009t0056g0044 a0002c0009t0056g0044	1	116	0.0086	1020	c.199 others(1039): Show c.1994+1667_1994+1668insTAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGT CCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGG TCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976270	G G	GTCCTCCA others(1013): Show GTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAG GGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGA GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG AGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCA GAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGC AGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0059 a0003c0001t0059	a0003c0001t0059g0024 a0003c0001t0059g0024	1	116	0.0086	1020	c.199 others(1039): Show c.1994+1775_1994+1776insGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTC CCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGG TCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGG GTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAG GGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGATCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(1013): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGG GGCTGAGGCTGCGAGGCTGCCACACAGACGGTCCTCCAGAGAATCACTGA GGGTCCCAGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCAC TGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0018 a0018	a0018c0028 a0018c0028	a0018c0028t0049 a0018c0028t0049	a0018c0028t0049g0035 a0018c0028t0049g0035	1	116	0.0086	1020	c.199 others(1039): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGATCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAG ACGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCTGAGGCTGCCACGCA GAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGC AGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACA CAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SHKBP1_chr19_40571873_40596397	40571904	G G	GCGCAAAG others(1013): Show GCGCAAAGGTCCAGAGGTAGGAAGGCTCAGACATATTCAGACCTTGAGGA TGTTAATGAAGAGTTATTAGGCAGAGTGCTGCGGCTCTGCCTTGAGCCCA TCTTGTCGCTCCAGGTCGTGGGTGAGCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0160	1	392	0.0026	1020	c.-49 others(1031): Show c.-4996_-4995insCGCAAAGGTCCAGAGGTAGGAAGGCTCAGACATA TTCAGACCTTGAGGATGTTAATGAAGAGTTATTAGGCAGAGTGCTGCGGC TCTGCCTTGAGCCCATCTTGTCGCTCCAGGTCGTGGGTGAGCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	SHKBP1	ENSG00000160410.15	transcript	ENST00000291842.10	protein_coding		4968		chr19	TogoVar
SLC44A5_chr1_75197129_75616114	75280140	A A	ATATATAG others(1013): Show ATATATAGTATATCTAATATATATTATATATATTTTATATTGTATATATA ATATATAGTATATATTTTATGTTGTATATATAATATACATAGTATATATT ATATATTGTATATAATATATATAGTATATATTATATATTGTATATAATAT ATATAGTATATATTATATATTGTATATAATATATATAGTATATATTATAT ATTGTATATAATATATATAGTATATATTATATATTGTATATAATATATAT AGTATATATTATATATTGTATATAATATATATAGTATATATTATATATAT ATTGTATATGTTATATATTGTATATATAATATATATATTGTATATGTTAT ATATTGTATATATAATATATATTGTATATGTTATATATTGTATATATAAT ATATATTGTATATGTTATATATTGTATATATAATATATATTGTATATGTT ATATATTGTATATATAATATATATTGTATATGTTATATATTGTATATATA ATATATATTGTATATGTTATATATTGTATATATAATATATATTGTATATG TTATATATTGTATATATAATATATATTGTATATGTTATATATTGTATATA TAATATATATTGTATATGTTATATATTGTATATATAATATATATTGTATA TGTTATATATTGTATATATAATATATATTGTATATGTTATATATTGTATA TATAATATATATTGTATATGTTATATATTGTATATATAATATATATTGTA TATGTTATATATTGTATATATAATATATATTGTATATGTTATATATTGTA TATATAATATATATTGTATATGTTATATATTGTATATATAATATATATTG TATATGTTATATATTGTATATATAATATATATTGTATATGTTATATATTG TATATATAATATATATTGTATATGTTATATATTGTATATATAATATATAG TATATGTTATATATTGTATATATAATATATAGTATATGTTATATATTGTA TATATTATATATAGTATATGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0090 a0001c0005t0007g0090	1	156	0.0064	1020	c.176 others(1037): Show c.176-5099_176-5098insACATATACTATATATAATATATACAATA TATAACATATACTATATATTATATATACAATATATAACATATACTATATA TTATATATACAATATATAACATATACAATATATATTATATATACAATATA TAACATATACAATATATATTATATATACAATATATAACATATACAATATA TATTATATATACAATATATAACATATACAATATATATTATATATACAATA TATAACATATACAATATATATTATATATACAATATATAACATATACAATA TATATTATATATACAATATATAACATATACAATATATATTATATATACAA TATATAACATATACAATATATATTATATATACAATATATAACATATACAA TATATATTATATATACAATATATAACATATACAATATATATTATATATAC AATATATAACATATACAATATATATTATATATACAATATATAACATATAC AATATATATTATATATACAATATATAACATATACAATATATATTATATAT ACAATATATAACATATACAATATATATTATATATACAATATATAACATAT ACAATATATATTATATATACAATATATAACATATACAATATATATTATAT ATACAATATATAACATATACAATATATATTATATATACAATATATAACAT ATACAATATATATATTATATATACAATATATAACATATACAATATATATA TAATATATACTATATATATTATATACAATATATAATATATACTATATATA TTATATACAATATATAATATATACTATATATATTATATACAATATATAAT ATATACTATATATATTATATACAATATATAATATATACTATATATATTAT ATACAATATATAATATATACTATATATATTATATACAATATATAATATAT ACTATGTATATTATATATACAACATAAAATATATACTATATATTATATAT ACAATATAAAATATATATAATATATATTAGATATACTATATA	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
TENM4_chr11_78647829_79446030	79139409	C C	CTATAAAT others(1013): Show CTATAAATATATAAAATATATATTATATTTCTATAAATATATAAAATATA TATTATATTTCTATAAATATATAAAATATATATTATATTTCTATAAATAT ATAAAATATATATTATATTTCTATAAATATATAAAATATATATTATATTT CTATAAATATATAAAATATATATTATATTTCTATAAATATATAAAATATA TATTATATTTCTATAAATATATAAAATATATATTATATTTCTAGAAATAT ATAAAATATATATTATATTTCTATAAATATATAAAATATATATTATATTT ATAGAAATATATAAAATATATATTATATTTATAGAAATATATAAAATATA TATTATATTTATAGAAATATATAAAATATATATTATATTTCTAGAAATAT ATAAAATATATATTATATTTATAGAAATATATAAAATATATATTATATTT CTAGAAATATATAAAATATATATTATATTTCTAGAAATATATAAAATATA TATTATATTTCTAGAAATATATAAAATATATATTATATTTCTAGAAATAT ATAAAATATATATTATATTTCTAGAAATATATAAAATATATATTATATTT ATAGAAATATATAAAATATATATTATATTTCTAGAAATATATAAAATATA TATTATATTTCTAGAAATATATAAAATATATATTATATTTCTAGAAATAT ATAAAATATATATTATATTTCTAGAAATATATAAAATATATATTATATTT CTAGAAATATATAAAATATATATTATATTTATAGAAATATATAAAATATA TATTATATTTATAGAAATATATAAAATATATATTATATTTATAGAAATAT ATAAAATATATATTATATTTATAGAAATATATAAAATATATATTATATTT ATAGAAATATATAAAATATATATTATATTTATAGAAATATATAAAATATA TATTATATTTATAGAAATATATAAAATATATATTATATTTATAGAAATAT ATAAAATATATATTATATTTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0046 a0001c0001t0040g0046	1	94	0.0106	1020	c.-66 others(1037): Show c.-66+9300_-66+9301insTAAATATAATATATATTTTATATATTTC TATAAATATAATATATATTTTATATATTTCTATAAATATAATATATATTT TATATATTTCTATAAATATAATATATATTTTATATATTTCTATAAATATA ATATATATTTTATATATTTCTATAAATATAATATATATTTTATATATTTC TATAAATATAATATATATTTTATATATTTCTATAAATATAATATATATTT TATATATTTCTATAAATATAATATATATTTTATATATTTCTAGAAATATA ATATATATTTTATATATTTCTAGAAATATAATATATATTTTATATATTTC TAGAAATATAATATATATTTTATATATTTCTAGAAATATAATATATATTT TATATATTTCTAGAAATATAATATATATTTTATATATTTCTATAAATATA ATATATATTTTATATATTTCTAGAAATATAATATATATTTTATATATTTC TAGAAATATAATATATATTTTATATATTTCTAGAAATATAATATATATTT TATATATTTCTAGAAATATAATATATATTTTATATATTTCTAGAAATATA ATATATATTTTATATATTTCTATAAATATAATATATATTTTATATATTTC TAGAAATATAATATATATTTTATATATTTCTATAAATATAATATATATTT TATATATTTCTATAAATATAATATATATTTTATATATTTCTATAAATATA ATATATATTTTATATATTTATAGAAATATAATATATATTTTATATATTTC TAGAAATATAATATATATTTTATATATTTATAGAAATATAATATATATTT TATATATTTATAGAAATATAATATATATTTTATATATTTATAGAAATATA ATATATATTTTATATATTTATAGAAATATAATATATATTTTATATATTTA TAGAAATATAATATATATTTTATATATTTATAGAAATATAATATATATTT TATATATTTATAGAAATATAATATATATTTTATATATTTATA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TH_chr11_2158929_2176815	2161777	C C	CACCCCTG others(1013): Show CACCCCTGTCCCCGGGACCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACA CCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTC CCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACAC CCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTC CCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACC CCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCC CACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCC CTGTCCCCGGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCC CACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCC CACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCC TATCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCA GACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAG GACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCGGG ACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGT CCCCGGGACCCCTGTCCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0020 a0001c0004t0001g0020	1	388	0.0026	1020	c.24 others(1031): Show c.2455_*2456insCTGGGGACAGGGGTCCCGGGGACAGGGGTCTGGG GACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGG GTGTGGGGACAGGGGTCTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGT GTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGTCTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGG GGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGG GGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGG GGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGG GTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGTCCCGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2151		chr11	TogoVar
TMEM242_chr6_157284025_157328519	157313372	G G	GGATCCCA others(1013): Show GGATCCCAGTGTCTGCTCACCTGGCCTCATCATAGTGTCCCAGTGTGCGC TCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTAGCCTCAACA TAGTGCCCCAGTGTGCGTTGACCTGGCCTCATTATAGTGCCCCAGTGTGC ACTCACCAAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTGGCCTCAT CATAGGATCCCAGTGTCTGCTCACCTGGCCTCATCATAGTGTCCCAGTGT GCGCTCACCCGGCCTCATCATAGTGCCCCAGTGTGCGCTCACCCGGCCTC ATCATAGTGCCCCAGAATGCGCTCCCCTGGCCTCATCATAGTGCCCCAGT GAGCGCGCACCCAGCCTCATCATAGTGCCGCAGTGTGCGCTCACGTGACT TCAACATAGTGTCCCAGTGTGCACTCACCCGGCCTCATCATAGTACCCCA GTGTGCACTCACCTGGCCTCATCATACTGTCCCAATGTGCACTCACCTGG CCTCATCATAGTGTCCCAGGGTGCAATCACCAGGCCTCATCATAGTGTCC CAGTGTCCGCTCACCTGGCCTCATCATAGTGCGCCAGTGTGTGCTCAACT AGCCTCATCATAGTGCCCCATTGTGCGCTCATCTACCCTCATCATAGTGT CCCAGTGTGCACTCACCTGGCCTCATCATACTGTCCCAGTGTGCGCTCAC CTAGCCTCATCATAGTGTCCCAGTGTGCACTCACCCGGTCTCATGATAGT GTCCCAGTGTGCGCTGACCTAGCCTCATCATAGTGTCCCAGTGTGCACTC ACCTAGCCTCATCATAGTGTCCCAGTGTGAGCTCACCCGGCCTCATCATA GTGTCCCAGTGTGCGCTGACCTAGCCTCATCATAGTGTCCCAGTGTGCAC TCACCTAGCCTCATCATAGTGTCCCAGTGTGAGCTCACCCGGACTCATCA TAGTGTCCCAATGTGCACTCACACGGCCTCATCATAGTGTCCCAGTATGC ACTCACCCAGCCTCATCATAC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19007.hp2 NA18946.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0256 a0001c0001t0015g0257 a0001c0001t0015g0256 a0001c0001t0015g0257	2	344	0.0058	1020	c.327 others(1037): Show c.327+5409_327+5410insGTATGATGAGGCTGGGTGAGTGCATACT GGGACACTATGATGAGGCCGTGTGAGTGCACATTGGGACACTATGATGAG TCCGGGTGAGCTCACACTGGGACACTATGATGAGGCTAGGTGAGTGCACA CTGGGACACTATGATGAGGCTAGGTCAGCGCACACTGGGACACTATGATG AGGCCGGGTGAGCTCACACTGGGACACTATGATGAGGCTAGGTGAGTGCA CACTGGGACACTATGATGAGGCTAGGTCAGCGCACACTGGGACACTATCA TGAGACCGGGTGAGTGCACACTGGGACACTATGATGAGGCTAGGTGAGCG CACACTGGGACAGTATGATGAGGCCAGGTGAGTGCACACTGGGACACTAT GATGAGGGTAGATGAGCGCACAATGGGGCACTATGATGAGGCTAGTTGAG CACACACTGGCGCACTATGATGAGGCCAGGTGAGCGGACACTGGGACACT ATGATGAGGCCTGGTGATTGCACCCTGGGACACTATGATGAGGCCAGGTG AGTGCACATTGGGACAGTATGATGAGGCCAGGTGAGTGCACACTGGGGTA CTATGATGAGGCCGGGTGAGTGCACACTGGGACACTATGTTGAAGTCACG TGAGCGCACACTGCGGCACTATGATGAGGCTGGGTGCGCGCTCACTGGGG CACTATGATGAGGCCAGGGGAGCGCATTCTGGGGCACTATGATGAGGCCG GGTGAGCGCACACTGGGGCACTATGATGAGGCCGGGTGAGCGCACACTGG GACACTATGATGAGGCCAGGTGAGCAGACACTGGGATCCTATGATGAGGC CAGGTGAGTGCACACTGGGGCACTATGATGAGGCTTGGTGAGTGCACACT GGGGCACTATAATGAGGCCAGGTCAACGCACACTGGGGCACTATGTTGAG GCTAGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGAGCGCACA CTGGGACACTATGATGAGGCCAGGTGAGCAGACACTGGGATC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157313395	G G	GCCTCAAC others(1013): Show GCCTCAACATACTGTCCCAGTGTGCGGTCACCTGGCCTCATCATAGTGTC CCAGTGTCCGCTCACCGAGCATCATCATAGTGCCCCAGTGTGCGCTCACC CGGCCTCATCATAGTGCCCCACTGGGCCCTCACCCGGCCTCATGATAGTG TCCCAGTATGCACTCACATGCACAGATCATAGTGCCACAGTGTGCATTCA CCTAGCCTCATCATAGCGCCCCAGTGTGCACTCACCTAGGCTCATCATAG TGTCCCACTGTGCGCTCACCTAGCCCCATTATAGTGCCCCAGTGTGCGCT CAACTGGCCTCATCATAGTGTCCCAGAGTGCGCTCACCTAGCCTCATCAT AGTGTGCCAGTGTACCCTCAGCCGGCCTCATCATAGTGTCCCAGTGTGCG CTCACCAGGCCTCATAACAGTGCCCCAGGGTGCGCTCACCTGGCCTCATC ATAGTGTCCCAGTGTGCATTCACCTGGCCTCATCATAGTTTCCCAGTGTG CGCTCACCCGGCCTCATCATAGTGTCCCACTGTGCACTCACCTGGCCTCA TCACAGTGTCCCAGTGTGCGCTCACCTAGCCTCATCACAGTGTCCCAGTG TGCGCTCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTAGCCT CATCACAGTGTCGCAGTGGGCGCTCACCTGGCCTCATCATAGTGTCCCAG TGTGCACTCACCTAACCACATCATAGTGTCCAAGTGTGCGCTCACCCAGC CTCATCATAGTGTCCCAGTGGTCCCTCATCTAGCCTCATCATAGTGTCCC AGTGTGCGCTCACCCGGCCTCATCATAGTATCCCAGTGTGCACTCTCCCG GCCTCATCATAGTGTCCAAGTGTGCACTCACCTAGCCTCATCAGAGTGTC CCAGTGTGCGCTCACCCGGCCTCATCATAGTGCCCCAGTGTGCACTCACC AGGCCTAATCATAATGCCCCAGTGTACACTCACCTAGCCTCATCATAGTG TCCCAGTGTGCGCTTACCTTA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	344	0.0029	1020	c.327 others(1037): Show c.327+5386_327+5387insTAAGGTAAGCGCACACTGGGACACTATG ATGAGGCTAGGTGAGTGTACACTGGGGCATTATGATTAGGCCTGGTGAGT GCACACTGGGGCACTATGATGAGGCCGGGTGAGCGCACACTGGGACACTC TGATGAGGCTAGGTGAGTGCACACTTGGACACTATGATGAGGCCGGGAGA GTGCACACTGGGATACTATGATGAGGCCGGGTGAGCGCACACTGGGACAC TATGATGAGGCTAGATGAGGGACCACTGGGACACTATGATGAGGCTGGGT GAGCGCACACTTGGACACTATGATGTGGTTAGGTGAGTGCACACTGGGAC ACTATGATGAGGCCAGGTGAGCGCCCACTGCGACACTGTGATGAGGCTAG GTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGAGCGCACACTGGG ACACTGTGATGAGGCTAGGTGAGCGCACACTGGGACACTGTGATGAGGCC AGGTGAGTGCACAGTGGGACACTATGATGAGGCCGGGTGAGCGCACACTG GGAAACTATGATGAGGCCAGGTGAATGCACACTGGGACACTATGATGAGG CCAGGTGAGCGCACCCTGGGGCACTGTTATGAGGCCTGGTGAGCGCACAC TGGGACACTATGATGAGGCCGGCTGAGGGTACACTGGCACACTATGATGA GGCTAGGTGAGCGCACTCTGGGACACTATGATGAGGCCAGTTGAGCGCAC ACTGGGGCACTATAATGGGGCTAGGTGAGCGCACAGTGGGACACTATGAT GAGCCTAGGTGAGTGCACACTGGGGCGCTATGATGAGGCTAGGTGAATGC ACACTGTGGCACTATGATCTGTGCATGTGAGTGCATACTGGGACACTATC ATGAGGCCGGGTGAGGGCCCAGTGGGGCACTATGATGAGGCCGGGTGAGC GCACACTGGGGCACTATGATGATGCTCGGTGAGCGGACACTGGGACACTA TGATGAGGCCAGGTGACCGCACACTGGGACAGTATGTTGAGG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TRIO_chr5_14138342_14515204	14347016	C C	CTGGACCA others(1013): Show CTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGAT GCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGA TGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATG ATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGAT GATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGA TGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAG ATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGA GATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGAGATGATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTG CAGAACAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCT GCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCC TGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTC CTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGT CCTGCAGAACAGAGATGATGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0002 a0001c0031t0002	a0001c0031t0002g0031 a0001c0031t0002g0031	1	198	0.0051	1020	c.204 others(1041): Show c.2046+10307_2046+10308insCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTG CAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCT GCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCC TGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTC CTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGT CCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGG TCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAG GTCCTGCAGAACAGAGATGATGATGGACCAGTCATCTCAGGTGGACCTGA GGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTG AGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCT GAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGTGGACC TGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGTGGAC CTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(1013): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATATGATATACT ATATCATCATATGATGATATGATATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATATACTATATCATCATATGATG ATATGATATACTATATCATCATATGATGATATGATATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0162 a0001c0001t0076g0162	1	174	0.0058	1020	c.41- others(1037): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATATGATATACT ATATCATCATATGATGATATGATATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATATACTATATCATCATATGATG ATATGATATACTATATCATCATATGATGATATGATATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TWIST2_chr2_238843085_238915534	238870176	C C	CCACACAC others(1013): Show CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACA AACCACACACCCTACACACCCCACACACACCACACACCACACACACCCCA CACACACCACACCCCACACACACCACACACCCCCCACACACACCACACCC CATACACACCACACCCCACACACACCACACCCCATACACACCACACACCC CACACACACCACACACCCCACACACACCACACCCCATACACACCACACCC CCCACACACCACACACCCCACACACACCACACCCCACACACACCACACAC ACACCACACCCCACACACACCACACACCCCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACCCCATACACACCACACCCCATAC ACACCACACCCCACACACACCACACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACAAACCACACACCCTACACACCCC ACACACACCACACACCACACACACCCCACACACACCACACCCCACACACA CCACACACCCCCCACACACACCACACCCCATACACACCACACCCCACACA CACCACACCCCATACACACCACACACCCCACACACACCACACACCCCACA CACACCACACCCCATACACACCACACCCCCCACACACCACACACCCCACA CACACCACACCCCATACACACCACACCCCACACACACCACACACCCCACA CACACCACACCCCATACACACCACACACCCCACACACCACACACACACAT CACATACCACACACACATCACATACCACACACACACCACACACACACCAC ACACCCCACACCCCACACACACATCACACACCACACACACCACACACACC CCACACACACCACACACCCCA	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18982.hp2 NA19000.hp2 HG02132.hp2 NA18982.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0125 a0001c0001t0002g0161 a0001c0001t0002g0093 a0001c0001t0002g0125 a0001c0001t0002g0161	3	338	0.0089	1020	c.35 others(1039): Show c.35+21452_*35+21453insCACACACCCCACACACACCACACCCC ACACACACCACACAAACCACACACCCTACACACCCCACACACACCACACA CCACACACACCCCACACACACCACACCCCACACACACCACACACCCCCCA CACACACCACACCCCATACACACCACACCCCACACACACCACACCCCATA CACACCACACACCCCACACACACCACACACCCCACACACACCACACCCCA TACACACCACACCCCCCACACACCACACACCCCACACACACCACACCCCA CACACACCACACACACACCACACCCCACACACACCACACACCCCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACACCCCACACACACCACACCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACCCCATACAC ACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACACCACACAAACCACAC ACCCTACACACCCCACACACACCACACACCACACACACCCCACACACACC ACACCCCACACACACCACACACCCCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACCCCATACACACCACACACCCCACACACA CCACACACCCCACACACACCACACCCCATACACACCACACCCCCCACACA CCACACACCCCACACACACCACACCCCATACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCATACACACCACACACCCCACACA CCACACACACACATCACATACCACACACACATCACATACCACACACACAC CACACACACACCACACACCCCACACCCCACACACACATCACACACCACAC ACACCACACACACCCCACACACACCACACACCCCACACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ULK1_chr12_131889622_131928150	131917282	C C	CGGAGGCT others(1013): Show CGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGG GGTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACG GGGGTCGGGTTCGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCG GAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGG CTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGT GGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGG GACGGGGGTCGGGTTCGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGG CTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTTGGAGGCTGTGGGACG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGG TCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGCTCGGA GGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCT GTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGT TCGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTTGGAGGCTGTGG GATGGGGGTCGGGTTCGGCTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0318 a0001c0003t0005g0318	1	344	0.0029	1020	c.218 others(1037): Show c.2183-109_2183-108insCGGGTGGGGCTCGGAGGCTGTGGGATGG GGGTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTC GGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCG GAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGG TGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTG GGACGGGGGTCGGGTTCGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGG GCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTTGGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGCTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTTGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTTGGAGGCTGTGGGACGGGGGT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VPS53_chr17_503668_719839	646549	C C	CGTGACCG others(1013): Show CGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATTCAT ACCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTGTGGCC ACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGA CTGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGCCTCCTAAGGG TCTTATCTTTTCTAATCCATATCACGGACTGGAGACTGGCTCCCACACAC ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA TCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCG TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACT GGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCT AAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCA CACACATCTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTT TCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACAGCTCCATGA CCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCAC GGACTGGAGACTGGCTCCCACACACATCTCCGTGACTGCGTGGCCACTGC CTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGC TCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTA TCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTC CGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGT ATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCC ACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGA TCGGCTCCCACACACATCTCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0219 a0001c0002t0035g0219	1	232	0.0043	1020	c.608 others(1037): Show c.608+6741_608+6742insAGAGATGTGTGTGGGAGCCGATCTCCAG TCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG CGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATT AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGT GTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACC CTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTC TCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGG CCACGCAGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATAC GGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCATGGA GCTGTGTGTGGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATA AGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGTGGGAGC CGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGC AGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGT GATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTC ACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAA AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG GGAGCCAGTCTCCAGTCCGTGATATGGATTAGAAAAGATAAGACCCTTAG GAGGCAGTGGCCACGTGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAG TCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACA CGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGGTATGAATT AGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCAC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
ARHGAP39_chr8_144524179_144690846	144687192	C C	CCCCGTGA others(1014): Show CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGAC CACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTG AGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCC CGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACACACT GGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTC CCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCAC ACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAG CACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGT GACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCG GTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCAC CCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCGTGACCACACAC TGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTT CCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACC ACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGA GCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCG TGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGG CGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCC ACCCCTGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACA CACTAGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	246	0.0041	1021	c.-15 others(1032): Show c.-1589_-1588insTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCTAGTGTGTGGTCACAGGGGTGGGAAGTGCTCG CTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGT CACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGT GGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCG CCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCAC GGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCT CACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTG GTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAA GTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGT GTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGG TGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACC GCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCA CGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTG CTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGT GTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTG GGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG GGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1347		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(1014): Show GGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCA CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGA CCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGT GAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCC CGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACT AGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTC CCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCA CTCATTTACAGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAG CACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGT GACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACA GTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCAC CCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACAC TGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACC ACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGA GCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCG TGACCACACATTTACAGTGAGCACTTCCCACCCCGTGACCACACACTAGC GGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCC ACCCCGTGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0185 a0001c0001t0005g0185	1	246	0.0041	1021	c.-18 others(1032): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAG TGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTG GGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCAC GGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCT CACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGTAAATGTGTG GTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAA GTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGT GTGTGGTCACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGT GGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACC GCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCA CGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTG CTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTG TGGTCACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGG AAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCC AGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGG GGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTC ACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(1014): Show GGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCA CCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACA CACTGGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCA CTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGA CCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGT GAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCC CGTGACCACACATTTACAGTGAGCACTTCCCACCCCGTGACCACACACTG GCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCC CACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACA CACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGC ACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTG ACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGG TGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACC CCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACAC TGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACC ACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGA GCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCG TGACCACACATTTACAGTGAGCACTTCCCACCCCGTGACCACACACTAGC GGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCC ACCCCGTGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0182 a0001c0006t0001g0182	1	246	0.0041	1021	c.-18 others(1032): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAG TGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTG GGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCAC GGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGC TCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGT GGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGA AGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAG TGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTG CTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTG TGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGG AAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCTGTAA ATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTC ACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARID2_chr12_45724706_45913037	45781372	T T	TTGGCCAG others(1014): Show TTGGCCAGGCACGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCT GAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAATTAGCCGGGC ATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACT CTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGAGGGCATTAGTT TCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTTTGCGTCTCCAT GGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAATAAGCAAGTGGG AGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTAACCTAATCTCAG AAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTAAAACAAGTCAGT AGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGTGACATGAATAGC AGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCCTGCCTGAAGAG CAAAGCAAAACATCTGCATAAAACTAAATTTATATATATATATATATATA TATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGC TCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACTCCCAGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCG ATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0011 a0001c0009t0011	a0001c0009t0011g0207 a0001c0009t0011g0207	1	318	0.0031	1021	c.285 others(1040): Show c.285-30035_285-30034insGGTGGCTCACGCCTGTAATCTCAGCA CTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCAT CCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAA AATTAGCCGGGCATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGA CAGAGCTAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATG AGGGCATTAGTTTCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTT TTGCGTCTCCATGGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAA TAAGCAAGTGGGAGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTA ACCTAATCTCAGAAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTA AAACAAGTCAGTAGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGT GACATGAATAGCAGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGC CTGCCTGAAGAGCAAAGCAAAACATCTGCATAAAACTAAATTTATATATA TATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG TGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACTCC CAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCC AGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAGGCAC	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARID2_chr12_45724706_45913037	45781372	T T	TTGGCCAG others(1014): Show TTGGCCAGGCACGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCT GAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAATTAGCCGGGC ATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACT CTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGAGGGCATTAGTT TCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTTTGCGTCTCCAT GGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAATAAGCAAGTGGG AGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTAACCTAATCTCAG AAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTAAAACAAGTCAGT AGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGTGACATGAATAGC AGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCCTGCCTGAAGAG CAAAGCAAAACATCTGCATAAAACTAAATTTTTATATATATATATATATA TATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGC TCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACTCCCAGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCG ATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	318	0.0031	1021	c.285 others(1040): Show c.285-30035_285-30034insGGTGGCTCACGCCTGTAATCTCAGCA CTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCAT CCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAA AATTAGCCGGGCATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGA CAGAGCTAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATG AGGGCATTAGTTTCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTT TTGCGTCTCCATGGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAA TAAGCAAGTGGGAGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTA ACCTAATCTCAGAAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTA AAACAAGTCAGTAGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGT GACATGAATAGCAGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGC CTGCCTGAAGAGCAAAGCAAAACATCTGCATAAAACTAAATTTTTATATA TATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG TGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACTCC CAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCC AGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAGGCAC	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARID2_chr12_45724706_45913037	45781372	T T	TTGGCCAG others(1014): Show TTGGCCAGGCACGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCT GAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAATTAGCCGGGC ATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACT CTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAGGCATTAGTTTCTTG CTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTTTGCGTCTCCATGGGGC AGCTCACTGTAGGACAACTGTTTTTCTTCAGAATAAGCAAGTGGGAGAGA AAAAGAACAAGATGGAAGTTGAGTCTTTATGTAACCTAATCTCAGAAGTG ACATCTTACCACTTCTGTTGTCTTCTGATCTTAAAACAAGTCAGTAGGTT TATCCTCTACTCAAGGGGAAAGAATTATGCAGTGACATGAATAGCAGGAG TCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCCTGCCTGAAGAGCAAAG CAAAACATCTGCATAAAACTAAATTTATATATATATATATATATATATAT ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGC TCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACTCCCAGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCG ATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	318	0.0031	1021	c.285 others(1040): Show c.285-30035_285-30034insGGTGGCTCACGCCTGTAATCTCAGCA CTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCAT CCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAA AATTAGCCGGGCATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGA CAGAGCTAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAGGC ATTAGTTTCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTTTGCG TCTCCATGGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAATAAGC AAGTGGGAGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTAACCTA ATCTCAGAAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTAAAACA AGTCAGTAGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGTGACAT GAATAGCAGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCCTGCC TGAAGAGCAAAGCAAAACATCTGCATAAAACTAAATTTATATATATATAT ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG TGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACTCC CAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCC AGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAGGCAC	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARID2_chr12_45724706_45913037	45781372	T T	TTGGCCAG others(1014): Show TTGGCCAGGCACGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCT GAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAATTAGCCGGGC ATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACT CTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAGGCATTAGTTTCTTG CTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTTTGCGTCTCCATGGGGC AGCTCACTGTAGGACAACTGTTTTTCTTCAGAATAAGCAAGTGGGAGAGA AAAAGAACAAGATGGAAGTTGAGTCTTTATGTAACCTAATCTCAGAAGTG ACATCTTACCACTTCTGTTGTCTTCTGATCTTAAAACAAGTCAGTAGGTT TATCCTCTACTCAAGGGGAAAGAATTATGCAGTGACATGAATAGCAGGAG TCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCCTGCCTGAAGAGCAAAG CAAAACATCTGCATAAAACTAAATTTATATATATATATATATATATATAT ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGC TCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACTCCCAGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCG ATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	318	0.0031	1021	c.285 others(1040): Show c.285-30035_285-30034insGGTGGCTCACGCCTGTAATCTCAGCA CTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCAT CCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAA AATTAGCCGGGCATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGA CAGAGCTAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAGGC ATTAGTTTCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTTTGCG TCTCCATGGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAATAAGC AAGTGGGAGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTAACCTA ATCTCAGAAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTAAAACA AGTCAGTAGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGTGACAT GAATAGCAGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCCTGCC TGAAGAGCAAAGCAAAACATCTGCATAAAACTAAATTTATATATATATAT ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG TGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACTCC CAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCC AGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAGGCAC	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARID2_chr12_45724706_45913037	45781372	T T	TTGGCCAG others(1014): Show TTGGCCAGGCACGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCT GAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAATTAGCCGGGC ATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACT CTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATGAGGGCATTAGTTT CTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTTTGCGTCTCCATG GGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAATAAGCAAGTGGGA GAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTAACCTAATCTCAGA AGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTAAAACAAGTCAGTA GGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGTGACATGAATAGCA GGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCCTGCCTGAAGAGC AAAGCAAAACATCTGCATAAAACTAAATTTATATATATATATATATATAT ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGC TCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACTCCCAGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCG ATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0228 a0001c0002t0002g0228	1	318	0.0031	1021	c.285 others(1040): Show c.285-30035_285-30034insGGTGGCTCACGCCTGTAATCTCAGCA CTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCAT CCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAA AATTAGCCGGGCATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGA CAGAGCTAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATGA GGGCATTAGTTTCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTT TGCGTCTCCATGGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAAT AAGCAAGTGGGAGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTAA CCTAATCTCAGAAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTAA AACAAGTCAGTAGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGTG ACATGAATAGCAGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCC TGCCTGAAGAGCAAAGCAAAACATCTGCATAAAACTAAATTTATATATAT ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG TGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACTCC CAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCC AGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAGGCAC	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARID2_chr12_45724706_45913037	45781372	T T	TTGGCCAG others(1014): Show TTGGCCAGGCACGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCT GAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAAAAATTAGCCGGG CATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGAC TCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATGAGGGCATTAGTT TCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTTTGCGTCTCCAT GGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAATAAGCAAGTGGG AGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTAACCTAATCTCAG AAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTAAAACAAGTCAGT AGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGTGACATGAATAGC AGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCCTGCCTGAAGAG CAAAGCAAAACATCTGCATAAAACTAAATTTATATATATATATATATATA TATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGC TCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACTCCCAGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCG ATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0248 a0002c0003t0001g0248	1	318	0.0031	1021	c.285 others(1040): Show c.285-30035_285-30034insGGTGGCTCACGCCTGTAATCTCAGCA CTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCAT CCTGGCTAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAA AAATTAGCCGGGCATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCG ACAGAGCTAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATG AGGGCATTAGTTTCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTT TTGCGTCTCCATGGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAA TAAGCAAGTGGGAGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTA ACCTAATCTCAGAAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTA AAACAAGTCAGTAGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGT GACATGAATAGCAGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGC CTGCCTGAAGAGCAAAGCAAAACATCTGCATAAAACTAAATTTATATATA TATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG TGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACTCC CAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCC AGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAGGCAC	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARID2_chr12_45724706_45913037	45781372	T T	TTGGCCAG others(1014): Show TTGGCCAGGCACGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCT GAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAAAAATTAGCCGGG CATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGAC TCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATGAGGGCATTAGTT TCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTTTGCGTCTCCAT GGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAATAAGCAAGTGGG AGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTAACCTAATCTCAG AAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTAAAACAAGTCAGT AGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGTGACATGAATAGC AGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCCTGCCTGAAGAG CAAAGCAAAACATCTGCATAAAACTAAATTTATATATATATATATATATA TATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGC TCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACTCCCAGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCG ATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19074.hp2 HG00597.hp2 NA19074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0250 a0002c0003t0001g0307 a0002c0003t0001g0250 a0002c0003t0001g0307	2	318	0.0063	1021	c.285 others(1040): Show c.285-30035_285-30034insGGTGGCTCACGCCTGTAATCTCAGCA CTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCAT CCTGGCTAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAA AAATTAGCCGGGCATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCG ACAGAGCTAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATG AGGGCATTAGTTTCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTT TTGCGTCTCCATGGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAA TAAGCAAGTGGGAGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTA ACCTAATCTCAGAAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTA AAACAAGTCAGTAGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGT GACATGAATAGCAGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGC CTGCCTGAAGAGCAAAGCAAAACATCTGCATAAAACTAAATTTATATATA TATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG TGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACTCC CAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCC AGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAGGCAC	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARID2_chr12_45724706_45913037	45781372	T T	TTGGCCAG others(1014): Show TTGGCCAGGCACGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCT GAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAAAAATTAGCCGGG CATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGAC TCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATGAGGGCATTAGTT TCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTTTGCGTCTCCAT GGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAATAAGCAAGTGGG AGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTAACCTAATCTCAG AAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTAAAACAAGTCAGT AGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGTGACATGAATAGC AGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCCTGCCTGAAGAG CAAAGCAAAACATCTGCATAAAACTAAATTTATATATATATATATATATA TATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGC TCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACTCCCAGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCG ATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0255 a0002c0003t0001g0255	1	318	0.0031	1021	c.285 others(1040): Show c.285-30035_285-30034insGGTGGCTCACGCCTGTAATCTCAGCA CTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCAT CCTGGCTAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAA AAATTAGCCGGGCATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCG ACAGAGCTAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATG AGGGCATTAGTTTCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTT TTGCGTCTCCATGGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAA TAAGCAAGTGGGAGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTA ACCTAATCTCAGAAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTA AAACAAGTCAGTAGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGT GACATGAATAGCAGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGC CTGCCTGAAGAGCAAAGCAAAACATCTGCATAAAACTAAATTTATATATA TATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG TGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACCACTCC CAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCC AGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTTGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCAGGCAC	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(1014): Show TGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGG GGACTGTCATGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGG GACTGTCATGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAA CGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAG AGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACT GTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCATGGTCAGAGCAGA GGCGGAGGTGGGAACTGTCGGG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0204 a0002c0002t0003g0204	1	298	0.0034	1021	c.955 others(1038): Show c.955-6175_955-6174insTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGA CTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAAC TGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAG AGGCGGAGGTGGGGACTGTCATGGTCAGAGCAGAGGCGGAGGTGGGAACT GTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGA GGCGGAGGTGGGGACTGTCATGGTCAGAGCAGAGGCGGAGGTGGGAACTG TCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAG GCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGT CGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGG TGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCG GGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTG GAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCAT GGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAAC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
C10orf67_chr10_23197696_23349797	23331540	A A	AAGGGAAA others(1014): Show AAGGGAAAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAGGGA AAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAGGGAAAAGGG AAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGG GAAGGGAAGGGAAAAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAG GGAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAACCGGGACGGGAA AAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAACCAGGACAGGAACCGGGACAGGAACCGGGAAGGGAAGGGATGGG AACCGATGGGAACCGGGATGGCAACCAGGAAGGGAAGGGACCGGGACGGG AAGGGAAGGAAACCGGGACGGCAACAGAGACAGGAACCGGGAAGGGAAAA GAAGGGAAGAGAACCGGGAAGGGAAGGGAACCGGGACAGGAACCGGGAAG GGAAGGGAAGAGAACAGGGAAGGGAGGGTAGGGGAGGGAAACCGGGAAGG AAGAGGAAGGGGAGGGGAGACCGGGACGGGAACTGGGACGGGAAGGGTAG GGAACCGGGCGGGAACCGGGACGGGAGGGGAAGGGAATGGGGACGAGAAA CGGGACGGGAACCAGGACAGGAACCAGAACGGAAACAGGGAAGGGAAGGG AAGGGAACAGGGACAGGAATCGGGAAGGGAACCGGGACAGGAACCGGAAA GGGAAGGGAACCAGGAAAGGAAAGGAAGGCAAGCGGGACGGGAGCCGGGA AGGCAAGAGAAGGGAACCGGGAAGAGTAAGGAGGAAAACCGGGACGCGAA CAGGACGGGAACCGGGAAGGGCAGGGAACCGGGACAGGAACAGGACGGGA ACCGGGAAGGGCAGGGAACCGGGACAGGAACAGGACGGGAACCGGGAAGG GCAGGGAACCGGCACAGGAAGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	326	0.0031	1021	c.327 others(1038): Show c.327+1521_327+1522insCCTTCCTGTGCCGGTTCCCTGCCCTTCC CGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCCCGGTTCCCGT CCTGTTCCTGTCCCGGTTCCCTGCCCTTCCCGGTTCCCGTCCTGTTCGCG TCCCGGTTTTCCTCCTTACTCTTCCCGGTTCCCTTCTCTTGCCTTCCCGG CTCCCGTCCCGCTTGCCTTCCTTTCCTTTCCTGGTTCCCTTCCCTTTCCG GTTCCTGTCCCGGTTCCCTTCCCGATTCCTGTCCCTGTTCCCTTCCCTTC CCTTCCCTGTTTCCGTTCTGGTTCCTGTCCTGGTTCCCGTCCCGTTTCTC GTCCCCATTCCCTTCCCCTCCCGTCCCGGTTCCCGCCCGGTTCCCTACCC TTCCCGTCCCAGTTCCCGTCCCGGTCTCCCCTCCCCTTCCTCTTCCTTCC CGGTTTCCCTCCCCTACCCTCCCTTCCCTGTTCTCTTCCCTTCCCTTCCC GGTTCCTGTCCCGGTTCCCTTCCCTTCCCGGTTCTCTTCCCTTCTTTTCC CTTCCCGGTTCCTGTCTCTGTTGCCGTCCCGGTTTCCTTCCCTTCCCGTC CCGGTCCCTTCCCTTCCTGGTTGCCATCCCGGTTCCCATCGGTTCCCATC CCTTCCCTTCCCGGTTCCTGTCCCGGTTCCTGTCCTGGTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCG TCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTCCC TTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTTT CCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTT TCCCTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTTTTCCCTT CCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTTTTCCCT	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
C4orf50_chr4_5954375_6023431	6004539	G G	GTGATGAT others(1014): Show GTGATGATGGTGATGGTGATGATGGTGATGGTGATGATATTGATGGTGAT GATATTGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATGGT GATGATGGTGATAGTTATGATGGTGATGGTGATGATGTTGATGATGGTGA TGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATAGTGATGA TGGTGATGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATG ATGGTGATGGTGATGATGGTGATGGTGATGGTGATGATAGTGATGATGGT GATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGGTGA TGATGGTGACGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGATGTTGATGATGGTGATGATG GTGATGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGT GATGATGGTGATGGTGATGATGTGATGGTGATGATGATGGTGATGGTGAT GATGGTGATGGTGATGATGGTGATGGTGGTGATGATGATGGTGATGTGAT GGTAATGGTGATGATGGTGATGGTGATGATGATGTGGTGGTGATGGTGAT GCTGATGATGGTGATGATGGTGATGGTGATGATAGTGATGATGGTGATGA TGGTGATGGTGATGATGGTGATGATATTGATGGTGATGATATTGATGGTG ATGATGGTGATGGTGATGATGTGATGGTGATGATGGTGATAGTTATGATG GTGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGATGGT GATGATGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGAT GATGGTGATGGTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGG TGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGATGACGGTGATGGTGATGA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0178 a0002c0002t0000g0178	1	346	0.0029	1021	c.963 others(1038): Show c.963+3456_963+3457insTCATCACCATCACCGTCATCATCACCAT CACCATCATCACCATCACCATCATCACCATCATCACTATCATCACCATCA TCACCATCACCATCATCACCATCATCACCATCACCATCACCATCATCACC ATCACCATCATCACCATCATCACTATCATCACCATCACATCATCACCATC ACCATCATCACCATCATCACCATCATCAACATCATCACCATCACCATCAT AACTATCACCATCATCACCATCACATCATCACCATCACCATCATCACCAT CAATATCATCACCATCAATATCATCACCATCATCACCATCACCATCATCA CCATCATCACTATCATCACCATCACCATCATCACCATCATCAGCATCACC ATCACCACCACATCATCATCACCATCACCATCATCACCATTACCATCACA TCACCATCATCATCACCACCATCACCATCATCACCATCACCATCATCACC ATCACCATCATCATCACCATCACATCATCACCATCACCATCATCACCATC ACCATCATCACCATCATCACTATCATCACCATCACCATCATCACCATCAT CACCATCATCAACATCATCACCATCATCACCATCACCATCATCACCATCA CCATCATCACCATCATCACCATCACATCATCACCGTCACCATCATCACCA TCATCACCATCATCACCATCACCATCATCACCATCACCATCATCACCATC ATCACTATCATCACCATCACCATCACCATCATCACCATCACCATCATCAC CATCATCACCATCATCACTATCATCACCATCACCATCATCACCATCATCA CTATCATCACCATCACATCATCACCATCACCATCATCACCATCATCACCA TCATCAACATCATCACCATCACCATCATAACTATCACCATCATCACCATC ATCACCATCACATCATCACCATCACCATCATCACCATCAATATCATCACC ATCAATATCATCACCATCACCATCATCACCATCACCATCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(1014): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGG GCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGG GTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCG GAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGG GCCGGAGGCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0299 a0001c0001t0014g0299	1	338	0.0030	1021	c.300 others(1038): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAATAGACGGTCGGCATGCATAGGGCC GGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGG GCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCG GAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGG CCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATA GGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGC ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGG GGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCA TAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
COMMD9_chr11_36267292_36294424	36287093	A A	ACTATGTA others(1014): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTA TGTATACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTAC ATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATAC TACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCA TATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACA TGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATA GTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCT ATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTAT GTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGT ACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTAT ACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACAT CATATAGTATGTATACTACATG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0093 a0001c0001t0008g0093	1	448	0.0022	1021	c.51+ others(1036): Show c.51+2268_51+2269insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACAT ACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG CATGTAGTATACATACTATATGATGTACATAGCATGTATACATACTATAT GATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAG TATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATG TACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATA CATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACA TAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATA CTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGC ATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTAT ATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGT AGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGA TGTACATAGCATGTAGTATACATACTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1014): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGAGGGAG GAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGGGAGGAGG AGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGG AGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGG AGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAG GAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGG AGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGA GGAGGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGA GGAGGAGGAGGGAGGGAGGAGGGAGGAGGAGGAGGGAGGGAGGAGGAGGG AGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAG GGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAG GAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGA GGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGG AGGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGG AAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGG GAGAAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGA GGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGGGGAGGA GGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGAGGAGGGAGGAGGAGGAG GAGGAGGAGGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0145 a0145	a0145c0027 a0145c0027	a0145c0027t0001 a0145c0027t0001	a0145c0027t0001g0031 a0145c0027t0001g0031	1	252	0.0040	1021	c.118 others(1040): Show c.11806-562_11806-561insCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCTCCTCCCTCCT CCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCC TCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTTCTCCCTC CTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTC CCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTC CCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCC TCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCC TCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCT CCTCCTCCCTCCCTCCTCCTCCTCCCTCCTCCCTCCCTCCTCCTCCTCCC TCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCC TCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTC CTCCTCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCC CTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCTCCCC CTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCC CTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTC CTCCCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCT CCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCC CTCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1014): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG GAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGA GGGAGGAGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGG AGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGG AGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGG AGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAG GAGGGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGG AGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGG AGGAGGGAGGAGGAGGAGGGAGGGAGGAGGGAGGAGGAGGAGGGAGGGAG GAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGG AGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGTAGG AGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGG AGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGA GGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAGGA GGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAG GAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGAAGGAGGAGG GAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGA GGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGGGGAGGA GGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGAGGAGGGAGGAGGAGGAG GAGGAGGAGGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0064 a0001c0064	a0001c0064t0001 a0001c0064t0001	a0001c0064t0001g0189 a0001c0064t0001g0189	1	252	0.0040	1021	c.118 others(1040): Show c.11806-562_11806-561insCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCTCCTCCCTCCT CCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCC TCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTC CTCCTTCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTTCCTCC CTCCTCCTTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCT CCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCC TCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTC CTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTA CTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTC CCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCC CTCCCTCCTCCTCCTCCCTCCTCCCTCCCTCCTCCTCCTCCCTCCTCCCT CCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTC CTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTC CTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCC CTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCTCCCC CTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCC CTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTC CTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCTCCTCCCTCCT CCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTC CTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438438	A A	AGGAGGAG others(1014): Show AGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAG GAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGG AGGAGGAGGGAGGAGGAGGAGAGGGAGGAGGAGGAGGAGGAGGGAGGAGG AGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGA GGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGA GGAGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGGGGA GGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGG AGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGG GAGGGAGGAGGGAGGAGGAGGAGGGAGGGAGGAGGAGGGAGGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGA GGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGG AGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAG GGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGG AGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGA GGAGGAGGAGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGG AGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAG GGAGGAGGAGGAGGAGGAGGGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0070 a0070	a0070c0108 a0070c0108	a0070c0108t0001 a0070c0108t0001	a0070c0108t0001g0076 a0070c0108t0001g0076	1	252	0.0040	1021	c.118 others(1040): Show c.11806-571_11806-570insCCCCTCCTCCTCCTCCTCCTCCCTCC TCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCT CCTCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTCCTCCTCCC TCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCCT CCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCC TCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTC CTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCT CCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCT CCTCCCTCCCTCCTCCTCCCTCCCTCCTCCTCCTCCCTCCTCCCTCCCTC CTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCT CCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTC CTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCC CCTCCTCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCT CCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCTCCT CCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCT CCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCCTCCTCCTCCTCCTCCTCCCTCTCCTCCTCCTCCCTCCTCCTCCTC CCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCC CTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DYM_chr18_49031387_49465645	49067407	A A	AGTGTTAT others(1014): Show AGTGTTATGGAGGTTCAGTAGGGGAAGGAGTAGGATGATGTGAGGGTTAT GGAGGTTTAGTAGGGGAAAGAGTGGGGTGATGTGAGTGTTATGGAGGTTC AGTAGAGGAAGGAGTGGGGTGATGTTATTGAGGTTCAGTAGGGGAAGGAG TGGGGTGATGTGAGCACTATGGAGGTTCAGTAGGGGAAGGAGTGGGGTGA TGTGAGTGTCATAGAGGTTCAGTAGGGGAAGGAGTGGGGTGATGTGAACA CTATGGAGGTTCAGTAGGGGAAGGAGTGGGGTGATGTGATTGTTATGGAG GTTCAGTAGGGGAAGGAGTGGGGTGATGTGAGCACTATGGAGGTTCAGTA GGGGAAGGAGTGGGGTGATGTGAGTGTTATGGAGGTTCAGTAGGGGAAGG AGTGGGGTGATGTGTTATGGAGGTTCAGTAGGGGAAGGAGTAGGGTGATG TGAGTGTTATGGAGATTCAGTAGGGGAAGGAGTGGGGTGATGTGAGTGTT ATGGAGGTTCAGTAGGGGAAGGAGTGGGGTGATGTGAGTATTGTTATGGA GGTTCAGTAGGGGAAGGGGTAGGGTGATGTGAGTGTTATGGAGGTTCAGT AGGGGAAGGAGTAGGGTGATGTGAGTGTTATGGAGGTTCAGTAGGGGAAG GAGTGGGGTGATATGTTGTGGAGGTTCAGTAGGGGAAGGAGTGGGGTGAT GTGTTATGGAGGTTCAGTAGGGAAGGAGTGGGGTGATGTGAGCACTATGG AGGTTCAGTTGGGGAAGGAGTGGGGTGATGTGGGCACTATGGAGGTTCAG TAGAGGAAGGAGTGGGGTGATGTGTTATGGAGGTTCAGTAGAGGAAGGAG TGGGGTGATGTGTTATAGAGGTTCAGTAGGGGAAGGAGTGGGGTGATGTG TTATGGAGGTTCAGTAGGGGAAGGAGTGGGGTGATGTGAGTGTTGTTATG GAGGTTCAGTAGGGGAAGGAGTGTGGTGATGTCAGTGTTATGGAGGTTCA GTAGAGGAAGGAGTGGGGTGAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0286 a0001c0001t0022g0286	1	290	0.0035	1021	c.202 others(1042): Show c.2026-23204_2026-23203insATCACCCCACTCCTTCCTCTACTG AACCTCCATAACACTGACATCACCACACTCCTTCCCCTACTGAACCTCCA TAACAACACTCACATCACCCCACTCCTTCCCCTACTGAACCTCCATAACA CATCACCCCACTCCTTCCCCTACTGAACCTCTATAACACATCACCCCACT CCTTCCTCTACTGAACCTCCATAACACATCACCCCACTCCTTCCTCTACT GAACCTCCATAGTGCCCACATCACCCCACTCCTTCCCCAACTGAACCTCC ATAGTGCTCACATCACCCCACTCCTTCCCTACTGAACCTCCATAACACAT CACCCCACTCCTTCCCCTACTGAACCTCCACAACATATCACCCCACTCCT TCCCCTACTGAACCTCCATAACACTCACATCACCCTACTCCTTCCCCTAC TGAACCTCCATAACACTCACATCACCCTACCCCTTCCCCTACTGAACCTC CATAACAATACTCACATCACCCCACTCCTTCCCCTACTGAACCTCCATAA CACTCACATCACCCCACTCCTTCCCCTACTGAATCTCCATAACACTCACA TCACCCTACTCCTTCCCCTACTGAACCTCCATAACACATCACCCCACTCC TTCCCCTACTGAACCTCCATAACACTCACATCACCCCACTCCTTCCCCTA CTGAACCTCCATAGTGCTCACATCACCCCACTCCTTCCCCTACTGAACCT CCATAACAATCACATCACCCCACTCCTTCCCCTACTGAACCTCCATAGTG TTCACATCACCCCACTCCTTCCCCTACTGAACCTCTATGACACTCACATC ACCCCACTCCTTCCCCTACTGAACCTCCATAGTGCTCACATCACCCCACT CCTTCCCCTACTGAACCTCAATAACATCACCCCACTCCTTCCTCTACTGA ACCTCCATAACACTCACATCACCCCACTCTTTCCCCTACTAAACCTCCAT AACCCTCACATCATCCTACTCCTTCCCCTACTGAACCTCCATAACAC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	17/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49067407	A A	AGTGTTAT others(1014): Show AGTGTTATGGAGGTTCAGTAGGGGAAGGAGTAGGATGATGTGAGGGTTAT GGAGGTTTAGTAGGGGAAGGAGTGGGGTGATGTGAGTGTTATGGAGGTTC AGTAGAGGAAGGAGTGGGGTGATGTTATTGAGGTTCAGTAGGGGAAGGAG TGGGGTGATGTGAGCACTATGGAGATTCAGTAGGGGAAGGAGTGGGGTGA TGTGAGTGTCATAGAGGTTCAGTAGGGGAAGGAGTGGGGTGATGTGAACA CTATGGAGGTTCAGTAGGGGAAGGAGTGGGGTGATGTGATTGTTATGGAG GTTCAGTAGGGGAAGGAGTGGGGTGATGTGAGCACTATGGAGGTTCAGTA GGGGAAGGAGTGGGGTGATGTGAGTGTTATGGAGGTTCAGTAGGGGAAGG AGTGGGGTGATGTGTTATGGAGGTTCAGTAGGGGAAGGAGTAGGGTGATG TGAGTGTTATGGAGATTCAGTAGGGGAAGGAGTGGGGTGATGTGAGTGTT ATGGAGGTTCAGTAGGGGAAGGAGTGGGGTGATGTGAGTATTGTTATGGA GGTTCAGTAGGGGAAGGGGTAGGGTGATGTGAGTGTTATGGAGGTTCAGT AGGGGAAGGAGTAGGGTGATGTGAGTGTTATGGAGGTTCAGTAGGGGAAG GAGTGGGGTGATATGTTGTGGAGGTTCAGTAGGGGAAGGAGTGGGGTGAT GTGTTATGGAGGTTCAGTAGGGAAGGAGTGGGGTGATGTGAGCACTATGG AGGTTCAGTTGGGGAAGGAGTGGGGTGATGTGGGCACTATGGAGGTTCAG TAGAGGAAGGAGTGGGGTGATGTGTTATGGAGGTTCAGTAGAGGAAGGAG TGGGGTGATGTGTTATAGAGGTTCAGTAGGGGAAGGAGTGGGGTGATGTG TTATGGAGGTTCAGTAGGGGAAGGAGTGGGGTGATGTGAGTGTTGTTATG GAGGTTCAGTAGGGGAAGGAGTGTGGTGATGTCAGTGTTATGGAGGTTCA GTAGAGGAAGGAGTGGGGTGAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01071.hp2 HG01106.hp1 others(37): Show HG00544.hp2 HG01071.hp2 HG01106.hp1 HG01261.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG02074.hp1 HG02132.hp2 HG03490.hp1 HG03492.hp2 HG03704.hp1 NA18747.hp2 NA18946.hp1 NA18947.hp2 NA18955.hp1 NA18961.hp1 NA18964.hp2 NA18971.hp1 NA18975.hp1 NA18982.hp2 NA18984.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19068.hp2 NA19077.hp2 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0041 a0001c0001t0003 a0001c0001t0013 a0001c0001t0041	a0001c0001t0003g0010 a0001c0001t0003g0053 a0001c0001t0003g0071 others(37): Show a0001c0001t0003g0010 a0001c0001t0003g0053 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0164 a0001c0001t0003g0167 a0001c0001t0003g0174 a0001c0001t0003g0181 a0001c0001t0003g0185 a0001c0001t0003g0214 a0001c0001t0013g0070 a0001c0001t0013g0086 a0001c0001t0013g0087 a0001c0001t0041g0290	40	290	0.1379	1021	c.202 others(1042): Show c.2026-23204_2026-23203insATCACCCCACTCCTTCCTCTACTG AACCTCCATAACACTGACATCACCACACTCCTTCCCCTACTGAACCTCCA TAACAACACTCACATCACCCCACTCCTTCCCCTACTGAACCTCCATAACA CATCACCCCACTCCTTCCCCTACTGAACCTCTATAACACATCACCCCACT CCTTCCTCTACTGAACCTCCATAACACATCACCCCACTCCTTCCTCTACT GAACCTCCATAGTGCCCACATCACCCCACTCCTTCCCCAACTGAACCTCC ATAGTGCTCACATCACCCCACTCCTTCCCTACTGAACCTCCATAACACAT CACCCCACTCCTTCCCCTACTGAACCTCCACAACATATCACCCCACTCCT TCCCCTACTGAACCTCCATAACACTCACATCACCCTACTCCTTCCCCTAC TGAACCTCCATAACACTCACATCACCCTACCCCTTCCCCTACTGAACCTC CATAACAATACTCACATCACCCCACTCCTTCCCCTACTGAACCTCCATAA CACTCACATCACCCCACTCCTTCCCCTACTGAATCTCCATAACACTCACA TCACCCTACTCCTTCCCCTACTGAACCTCCATAACACATCACCCCACTCC TTCCCCTACTGAACCTCCATAACACTCACATCACCCCACTCCTTCCCCTA CTGAACCTCCATAGTGCTCACATCACCCCACTCCTTCCCCTACTGAACCT CCATAACAATCACATCACCCCACTCCTTCCCCTACTGAACCTCCATAGTG TTCACATCACCCCACTCCTTCCCCTACTGAACCTCTATGACACTCACATC ACCCCACTCCTTCCCCTACTGAATCTCCATAGTGCTCACATCACCCCACT CCTTCCCCTACTGAACCTCAATAACATCACCCCACTCCTTCCTCTACTGA ACCTCCATAACACTCACATCACCCCACTCCTTCCCCTACTAAACCTCCAT AACCCTCACATCATCCTACTCCTTCCCCTACTGAACCTCCATAACAC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	17/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49067407	A A	AGTGTTAT others(1014): Show AGTGTTATGGAGGTTCAGTAGGGGAAGGAGTAGGATGATGTGAGGGTTAT GGAGGTTTAGTAGGGGAAGGAGTGGGGTGATGTGAGTGTTATGGAGGTTC AGTAGAGGAAGGAGTGGGGTGATGTTATTGAGGTTCAGTAGGGGAAGGAG TGGGGTGATGTGAGCACTATGGAGGTTCAGTAGGGGAAGGAGTGGGGTGA TGTGAGTGTCATAGAGGTTCAGTAGGGGAAGGAGTGGGGTGATGTGAACA CTATGGAGGTTCAGTAGGGGAAGGAGTGGGGTGATGTGATTGTTATGGAG GTTCAGTAGGGGAAGGAGTGGGGTGATGTGAGCACTATGGAGGTTCAGTA GGGGAAGGAGTGGGGTGATGTGAGTGTTATGGAGGTTCAGTAGGGGAAGG AGTGGGGTGATGTGTTATGGAGGTTCAGTAGGGGAAGGAGTAGGGTGATG TGAGTGTTATGGAGATTCAGTAGGGGAAGGAGTGGGGTGATGTGAGTGTT ATGGAGGTTCAGTAGGGGAAGGAGTGGGGTGATGTGAGTATTGTTATGGA GGTTCAGTAGGGGAAGGGGTAGGGTGATGTGAGTGTTATGGAGGTTCAGT AGGGGAAGGAGTAGGGTGATGTGAGTGTTATGGAGGTTCAGTAGGGGAAG GAGTGGGGTGATATGTTGTGGAGGTTCAGTAGGGGAAGGAGTGGGGTGAT GTGTTATGGAGGTTCAGTAGGGAAGGAGTGGGGTGATGTGAGCACTACGG AGGTTCAGTTGGGGAAGGAGTGGGGTGATGTGGGCACTATGGAGGTTCAG TAGAGGAAGGAGTGGGGTGATGTGTTATGGAGGTTCAGTAGAGGAAGGAG TGGGGTGATGTGTTATAGAGGTTCAGTAGGGGAAGGAGTGGGGTGATGTG TTATGGAGGTTCAGTAGGGGAAGGAGTGGGGTGATGTGAGTGTTGTTATG GAGGTTCAGTAGGGGAAGGAGTGTGGTGATGTCAGTGTTATGGAGGTTCA GTAGAGGAAGGAGTGGGGTGAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0126 a0001c0001t0004g0126	1	290	0.0035	1021	c.202 others(1042): Show c.2026-23204_2026-23203insATCACCCCACTCCTTCCTCTACTG AACCTCCATAACACTGACATCACCACACTCCTTCCCCTACTGAACCTCCA TAACAACACTCACATCACCCCACTCCTTCCCCTACTGAACCTCCATAACA CATCACCCCACTCCTTCCCCTACTGAACCTCTATAACACATCACCCCACT CCTTCCTCTACTGAACCTCCATAACACATCACCCCACTCCTTCCTCTACT GAACCTCCATAGTGCCCACATCACCCCACTCCTTCCCCAACTGAACCTCC GTAGTGCTCACATCACCCCACTCCTTCCCTACTGAACCTCCATAACACAT CACCCCACTCCTTCCCCTACTGAACCTCCACAACATATCACCCCACTCCT TCCCCTACTGAACCTCCATAACACTCACATCACCCTACTCCTTCCCCTAC TGAACCTCCATAACACTCACATCACCCTACCCCTTCCCCTACTGAACCTC CATAACAATACTCACATCACCCCACTCCTTCCCCTACTGAACCTCCATAA CACTCACATCACCCCACTCCTTCCCCTACTGAATCTCCATAACACTCACA TCACCCTACTCCTTCCCCTACTGAACCTCCATAACACATCACCCCACTCC TTCCCCTACTGAACCTCCATAACACTCACATCACCCCACTCCTTCCCCTA CTGAACCTCCATAGTGCTCACATCACCCCACTCCTTCCCCTACTGAACCT CCATAACAATCACATCACCCCACTCCTTCCCCTACTGAACCTCCATAGTG TTCACATCACCCCACTCCTTCCCCTACTGAACCTCTATGACACTCACATC ACCCCACTCCTTCCCCTACTGAACCTCCATAGTGCTCACATCACCCCACT CCTTCCCCTACTGAACCTCAATAACATCACCCCACTCCTTCCTCTACTGA ACCTCCATAACACTCACATCACCCCACTCCTTCCCCTACTAAACCTCCAT AACCCTCACATCATCCTACTCCTTCCCCTACTGAACCTCCATAACAC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	17/17			chr18	TogoVar

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