Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MICALL2_chr7_1429359_1464470	1446353	G G	GGAGTGAG others(836): Show GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGA GAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGA GGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGG AGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGG AGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGA GGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCA GTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAG GGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGG AGAGGAGGGGGGAGGAGGGGGAGGAGGGGGGAGGAGGGAGAGGAGGGGGG AGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGGAGGAGGGAGAG AAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAG AAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGAG GGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0242 a0001c0002t0001g0242	1	280	0.0036	843	c.641 others(858): Show c.641+359_641+360insTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCCTCCTCTCCCTCCTCCCCC CTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCCCCCTC CTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCT CTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCAC TCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCC CCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTA CTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTC CTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCC TCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTC CCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCC CTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCT CCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTT TTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTC ACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCC CCTTCTCTCACTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446353	G G	GGAGTGAG others(836): Show GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGA GAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGA GGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGG AGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGG AGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGA GGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCA GTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAG GGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGGAGGAGG GAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGG GAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAG AAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAG AAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGAG GGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	280	0.0036	843	c.641 others(858): Show c.641+359_641+360insTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCCTCCCCCCCTCCTCTCCCTCCTCCCCCCTCCT CTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCAC TCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCC CCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTA CTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTC CTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCC TCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTC CCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCC CTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCT CCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTT TTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTC ACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCC CCTTCTCTCACTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(836): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATTTTA TATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCT TATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATATTT TATATATATATAAAATAAGATTTTATATATATTTTATATATATATAAAAT AAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATAT TTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAAA ATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATAT ATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATA AAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATAT ATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATAT ATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAA AATAAGATTTTATATATATAAAATATATATAAAATCTTATTTTATATATA TTTTATATATATATAAAATCTTATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0312 a0004c0005t0006g0312	1	330	0.0030	843	c.-5+ others(858): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATAAGATTTT ATATATATATAAAATATATATAAAATAAGATTTTATATATATTTTATATA TATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATA AAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAAT CTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATATAT ATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTA TATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATAT ATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTT TATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTAT TTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAG ATTTTATATATATATAAAATATATATAAAATATATATAAAGTAAGATTTT ATATATATATAAAATATATATAAAGTAAGATTTCATATATATAAAATATA AAGTAAGATTTTATATATATATAAAATATATATAAAATATATATAAAATA AGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATA TAAAATATATAAAAAATATATATCAAATATATATAAAATAAGATTTTATA TATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250681	A A	AAGGAGAA others(836): Show AAGGAGAAGAAGAAGGAGAAGAAGAAGGAGAAGAAGAAGGAGAAGAAGAA GGAGAAGAAGAAGGAGAAGAAGAAGGAGAAGAAGAAGGAGAAGAAGAAGG AGAAGAAGAAGGAGAAGAAGAAGGAGAAGAAGAAGGAGAAGAAGAAGGAG AAGAAGAAGGAGAAGAAGAAGGAGAAGAAGAAGGAGAAGAAGAAGGAGAA GAAGAAGGAGAAGAAGAAGGAGAAGAAGAAGGAGAAGAAGAAGGAGAAGA AGAAGGAGAAGAAGAAGGAGAAGAAGGAGGAGAAGAAGGAGGAGAAGAAG GAGGAGAAGAAGGAGGAGAAGAAGGAGGAGAAGAAGGAGGAGAAGAAGGA GGAGAAGAAGGAGGAGAAGAAGGAGGAGAAGAAGGAGGAGAAGAAGGAGG AGAAGAAGGAGGAGAAGAAGGAGGAGAAGAAGGAGGAGAAGAAGGAGGAG AAGAAGGAGGAGAAGAAGGAGGAGAAGAAGGAGGAGAAGAAGGAGGAGAA GAAGGAGGAGAAGAAGGAGGAGAAGAAGGAGGAGAAGAAGGAGGAGAAGA AGGAGGAGAAGAAGGAGGAGAAGAAGGAGGAGAAGAAGGAGGAGAAGAAG GAGGAGAAGAAGGAGGAGAAGAAGGAGGAGAAGGAGGAGAAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	294	0.0034	843	c.677 others(858): Show c.677+224_677+225insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTTCTCCTCCTTCTCCTCCTTCTTCTCC TCCTTCTTCTCCTCCTTCTTCTCCTCCTTCTTCTCCTCCTTCTTCTCCTC CTTCTTCTCCTCCTTCTTCTCCTCCTTCTTCTCCTCCTTCTTCTCCTCCT TCTTCTCCTCCTTCTTCTCCTCCTTCTTCTCCTCCTTCTTCTCCTCCTTC TTCTCCTCCTTCTTCTCCTCCTTCTTCTCCTCCTTCTTCTCCTCCTTCTT CTCCTCCTTCTTCTCCTCCTTCTTCTCCTCCTTCTTCTCCTCCTTCTTCT CCTCCTTCTTCTCCTCCTTCTTCTCCTCCTTCTTCTCCTCCTTCTTCTCC TCCTTCTTCTCCTCCTTCTTCTCCTCCTTCTTCTCCTCCTTCTTCTCCTT CTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCT TCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTC TTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTT CTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCT CCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCC TTCTTCTTCTCCT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MYRIP_chr3_39804609_40265321	40203833	A A	ATAAATAT others(836): Show ATAAATATATATTATATATTTATATATAAATATTTATATATAAATATATA TTATATATTTATATATAAATATTTATATTTTATATATTTATATATTTTAT ATATTAATATATAAATATTTATATTTTATATATTTATATATTTTATATAT TAATATATAAATATTTATATTTTATATATTTATATATTTTATGATTTTAT AAAATATATAATTTATATAATAATTTTATAAATTATATAATTTATATATT ATATATAATATATTTATATTAAATATATATTTATATATTATATATAATAT ATTTATATTAAATATATATTTATATATTATATATAATATATTTATATTAA ATATATATTTATATATTATATATAATATATTTATATTAAATATATATATT ATATATAATATATTTATATTAAATATATATATTATATATAATATATTTAT ATTAAATATATATTATATATAATATATTTATATTAAATATTATATATTTA TATATTATATATTTATATTAAATATTATATATTTATGTTATATAATATAT TTATATTAAATATTATATATTTATATATTATATATAATATATTTATATTA AATGTTATATATTTATATATTATATATAATATATTTATATTAAATGTTAT ATATTTATATATTATATATAATATATTTATATTAAATGTTATATATTTAT ATATTATATATAATATATTTATATTAAATATTATATATTTATATATTATA TATAATATATTTATATTAAATATTATATATTTATATATTATATATATTTA TATTGAATATTATATATTTATATATTATATAAATATTATATATT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0005 a0001c0015t0005	a0001c0015t0005g0038 a0001c0015t0005g0038	1	170	0.0059	843	c.166 others(862): Show c.1666-6019_1666-6018insAATATATATTATATATTTATATATAA ATATTTATATATAAATATATATTATATATTTATATATAAATATTTATATT TTATATATTTATATATTTTATATATTAATATATAAATATTTATATTTTAT ATATTTATATATTTTATATATTAATATATAAATATTTATATTTTATATAT TTATATATTTTATGATTTTATAAAATATATAATTTATATAATAATTTTAT AAATTATATAATTTATATATTATATATAATATATTTATATTAAATATATA TTTATATATTATATATAATATATTTATATTAAATATATATTTATATATTA TATATAATATATTTATATTAAATATATATTTATATATTATATATAATATA TTTATATTAAATATATATATTATATATAATATATTTATATTAAATATATA TATTATATATAATATATTTATATTAAATATATATTATATATAATATATTT ATATTAAATATTATATATTTATATATTATATATTTATATTAAATATTATA TATTTATGTTATATAATATATTTATATTAAATATTATATATTTATATATT ATATATAATATATTTATATTAAATGTTATATATTTATATATTATATATAA TATATTTATATTAAATGTTATATATTTATATATTATATATAATATATTTA TATTAAATGTTATATATTTATATATTATATATAATATATTTATATTAAAT ATTATATATTTATATATTATATATAATATATTTATATTAAATATTATATA TTTATATATTATATATATTTATATTGAATATTATATATTTATATATTATA TAAATATTATATATTTA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEU4_chr2_241804193_241822413	241807333	C C	CCTCCCTC others(836): Show CCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCT CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAG GGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGC AGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0108 a0002c0003t0002g0108	1	319	0.0031	843	c.-19 others(854): Show c.-1945_-1944insCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACC CAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCT CCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAA CCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1859		chr2	TogoVar
NRXN3_chr14_78165373_79873291	79257520	G G	GTGGTGGT others(836): Show GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGATGGTAATGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGTGAT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTAATGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTG GTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTAATGATGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTAATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTAATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0015 a0001c0003t0004g0015	1	24	0.0417	843	c.326 others(866): Show c.3263-209669_3263-209668insATGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTAATGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTAATGATGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGGT GGTGGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGATGGTAATGATGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTAATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTAATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTGGTGATGGTGGTGGTG GTGATGGTGGTGGTGGTGGTG	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUP93_chr16_56725129_56855286	56739350	C C	CCCCCCCC others(836): Show CCCCCCCCACCTCCCTCCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCG CCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0233 a0001c0001t0004g0233	1	378	0.0027	843	c.-14 others(860): Show c.-14-8864_-14-8863insGCGGGGGGCTGACCCCCCAACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGC GCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739350	C C	CCCCCCCC others(836): Show CCCCCCCCACCTCCCTCCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCG CCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01496.hp2 HG01978.hp2 HG00408.hp2 HG01496.hp2 HG01978.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0015 a0001c0001 a0009c0015	a0001c0001t0004 a0009c0015t0004 a0001c0001t0004 a0009c0015t0004	a0001c0001t0004g0234 a0001c0001t0004g0236 a0009c0015t0004g0235 a0001c0001t0004g0234 a0001c0001t0004g0236 a0009c0015t0004g0235	3	378	0.0079	843	c.-14 others(860): Show c.-14-8864_-14-8863insGCGGGGGGCTGACCCCCCAACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGTGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGC GCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739406	A A	AACCTCCC others(836): Show AACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGGCTG ACTCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCG GACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGAC AGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGG GCTGACCCCCCCACCTCCCTCCCGGGCGGGGGGCCGACCCCCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp1 HG02970.hp2 others(3): Show HG01884.hp1 HG02630.hp1 HG02970.hp2 HG03098.hp1 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0046 a0001c0001t0011 a0001c0001t0046	a0001c0001t0011g0004 a0001c0001t0011g0005 a0001c0001t0011g0006 others(3): Show a0001c0001t0011g0004 a0001c0001t0011g0005 a0001c0001t0011g0006 a0001c0001t0011g0007 a0001c0001t0011g0009 a0001c0001t0046g0008	6	378	0.0159	843	c.-14 others(860): Show c.-14-8753_-14-8752insGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGGCTGACTC CCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTG ACCCCCCCACCTCCCTCCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDCD6_chr5_266646_319974	318049	C C	CCCTCCCC others(836): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTC CACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCC ATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCC TCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCAC CTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCC CAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACC TCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCT GCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACC CTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCC CTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACC TCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCA CCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCC TGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCC CATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	360	0.0028	843	c.35 others(854): Show c.3534_*3535insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTC TCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCC TCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCC CCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCT TCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTA CCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTC ACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCC ACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTC CCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACC TCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCC ACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCA CCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCC AACCCTGCA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3076		chr5	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(836): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCT CCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCGTCTTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	312	0.0032	843	c.306 others(862): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCGTCTTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTC CTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCC CTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTCCT CCCCTTCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRKCZ_chr1_2045411_2190395	2123926	G G	GTAGTTAG others(836): Show GTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGG TCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGG TTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTA TAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTA GGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGT GGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	286	0.0035	843	c.335 others(862): Show c.335-11335_335-11334insAGTTAGGGTCATGGTGGTAGTTAGGG TCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGT TGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RTEL1_chr20_63653312_63701245	63693570	T T	TCCACCAC others(836): Show TCCACCACCTCCACCTCCACCTCCACCACCACCACCACCACCTCCACCAC CTCCACCACCTCCACCTCCACCACCACCACCACCTCCACTACCTCCACCT CCACCACCTCCACCTCCACCACCTCCACCACCACCACCACCACCTCCACC ACCACCACCACCACCACCACCTCCACTACCTCCACCTCCACCACCTCCAC CTCCACCACCTCCACCACCACCACCACCACCTCCACCACCACCACCACCA CCACCACCTCCACCTCCACTACCTCCACCTCCACCACCTCCACCTCCACC ACCTCCACCACCACCACCACCACCTCCACCACCACCACCACCACCACCAC CTCCACCTCCACCACCTCCACCACCTCCACCTCCACCTCCACCACCACCT CCACCTCCACCACCTCCACCTCCACCACCTCCACCTCCACCACCTCCACC ACCACCACCTCCACCACCTCCACCACCACCACCTCCACCACCACCACCAC CACCACCACCACCTCCACCACCACCTCCACCACCTCCACCACCACCACCA CCACCTCCACCTCCACCACCACCTCCACCACCTCCACCACCACCTCCACC TCCACCTCCACCTCCACCACCACCACCACCACCACCTCCACCTCCACCAC CACCTCCACCACCACCACCACCACCACCTCCACCTCCACCTCCACCTCCA CCACCACCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCTCC ACCACCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCAC CACCACCTCCACCTCCACCACCACCTCCACCACCTCCACCTCCA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	60	0.0167	843	c.299 others(860): Show c.2992+292_2992+293insACCTCCACCTCCACCTCCACCACCACCA CCACCACCTCCACCACCTCCACCACCTCCACCTCCACCACCACCACCACC TCCACTACCTCCACCTCCACCACCTCCACCTCCACCACCTCCACCACCAC CACCACCACCTCCACCACCACCACCACCACCACCACCTCCACTACCTCCA CCTCCACCACCTCCACCTCCACCACCTCCACCACCACCACCACCACCTCC ACCACCACCACCACCACCACCACCTCCACCTCCACTACCTCCACCTCCAC CACCTCCACCTCCACCACCTCCACCACCACCACCACCACCTCCACCACCA CCACCACCACCACCACCTCCACCTCCACCACCTCCACCACCTCCACCTCC ACCTCCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCTCCAC CTCCACCACCTCCACCACCACCACCTCCACCACCTCCACCACCACCACCT CCACCACCACCACCACCACCACCACCACCTCCACCACCACCTCCACCACC TCCACCACCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCTC CACCACCACCTCCACCTCCACCTCCACCTCCACCACCACCACCACCACCA CCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCTCCACC TCCACCTCCACCTCCACCACCACCACCACCACCACCTCCACCTCCACCAC CACCTCCACCACCTCCACCACCACCACCACCACCTCCACCTCCACCACCA CCTCCACCACCACCACCACCACCTCCACCTCCACCACCACCTCCACCACC TCCACCTCCACCACC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RUSC2_chr9_35485111_35566895	35495159	T T	TTTTATAT others(836): Show TTTTATATATTATATTTTATATATAATATAATATATTTTATATATATTTT ATATATAATATAATATATTTTATATAATATATTATATATTATATAATATA TTTTATATAATATATTATATATTATATATAATATTTTATTATGTAATATA TAATATATATTTTATATATTATATATATTTTATTATATAATATATTTATA TATAATATATATTTTATATATAATATAATATATTTTATTTTATATAATGT ATTATATAATATATAATATATAACATATTTTATTATATATTATATAATAA TATATAACATATTTTATTATATATTATATAATAATATATAACATATTTTA TTATATATTATATAATAATATATAACATATTATATATTATATAATAATAT ATAACATATTTTATTATATAATATATAATATATTATATAATATATATTTT ATTGTATATAATATATTTTATTGTATATTATATATAATATATTTTATTGT ATATTATATATAATATATTTTATTGTATATTATATATAATATATTTTATT ATATAATTTATTATAATATATATATTTTATAATATATATAATATATTTTA TTATTATATATTTTATTATAATATATACAATATATTTTATTATAATATAT AATATATTTTATAATATATATATTTTATTATAATATATATATTTTATAAT ATATATATTTTATAATATATATATTTTATTATAATATATATTTTATTATA TATAATATATTTTATAATATATATAATATATTTTATTAAATATATATAAT ATATTTTATTAAATATATATAATATATTTTATTAAATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02257.hp1 HG02486.hp2 others(4): Show HG01175.hp1 HG02257.hp1 HG02486.hp2 HG02809.hp2 HG02922.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0112 a0001c0001t0001g0192 a0001c0001t0001g0195 others(4): Show a0001c0001t0001g0112 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0253 a0001c0001t0002g0051	7	322	0.0217	843	c.-93 others(860): Show c.-93+4987_-93+4988insTTTATATATTATATTTTATATATAATAT AATATATTTTATATATATTTTATATATAATATAATATATTTTATATAATA TATTATATATTATATAATATATTTTATATAATATATTATATATTATATAT AATATTTTATTATGTAATATATAATATATATTTTATATATTATATATATT TTATTATATAATATATTTATATATAATATATATTTTATATATAATATAAT ATATTTTATTTTATATAATGTATTATATAATATATAATATATAACATATT TTATTATATATTATATAATAATATATAACATATTTTATTATATATTATAT AATAATATATAACATATTTTATTATATATTATATAATAATATATAACATA TTATATATTATATAATAATATATAACATATTTTATTATATAATATATAAT ATATTATATAATATATATTTTATTGTATATAATATATTTTATTGTATATT ATATATAATATATTTTATTGTATATTATATATAATATATTTTATTGTATA TTATATATAATATATTTTATTATATAATTTATTATAATATATATATTTTA TAATATATATAATATATTTTATTATTATATATTTTATTATAATATATACA ATATATTTTATTATAATATATAATATATTTTATAATATATATATTTTATT ATAATATATATATTTTATAATATATATATTTTATAATATATATATTTTAT TATAATATATATTTTATTATATATAATATATTTTATAATATATATAATAT ATTTTATTAAATATATATAATATATTTTATTAAATATATATAATATATTT TATTAAATATATATA	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11			chr9	TogoVar
SKI_chr1_2223319_2315213	2280735	G G	GGACGCCC others(836): Show GGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCC CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGG AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG TGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG AGAGAAGACACGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGG ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGAC AGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT GGCGGAGATCTTCAGAGAGAGGACACCTGAGAAGACAGGCGGTGGCGGAG ATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA GAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAG AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0155 a0001c0001t0012g0155	1	330	0.0030	843	c.970 others(862): Show c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA GAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG CCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT CTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGA CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGA CAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGTGG TGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC AGAGAGAAGACACGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGA GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACACC TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG ACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGG TGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SPATA6_chr1_48290373_48477204	48384352	G G	GGGAGAGG others(836): Show GGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGGAGAGG GAGAGGGAGAGGAGAGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGG AGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGGGAGGGAGAGGGAGAGGGA GAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGGAGAGGGAGAGGAG AGGGAGAGGGAGAGGGTGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGGA GAGGGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGGGAGAGGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	322	0.0031	843	c.909 others(858): Show c.909+956_909+957insTCTCCCTCTCCCTCTCCCTCCTCTCCCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCCTCCCTCTCCCTCTCCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCACC CTCTCCCTCTCCCTCTCCTCTCCCTCTCCCCTCTCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCCCTCCCTCTCCCTCTCCT CTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCT CTCCTCTCCCTCTCCCTCTCCCTCTCCCCTCTCCCTCTCCCTCTCCCTCT CCTCTCCCTCTCC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
THBS3_chr1_155190588_155212897	155191012	G G	GTCCGGGG others(836): Show GTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGG CCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTG GAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGC GGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACAC CGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCC GAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGC TCTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGG GCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGG TGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCT GGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGAC ACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGG CCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCT GCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCG GGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCG GTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGC TGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGA CACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	298	0.0034	843	c.48 others(854): Show c.4828_*4829insGAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCA GCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCAC CGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCC CGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGC AGGCCGGCCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGC CCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGT GTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCC AGCCCACGGTGTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCA CCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGGACACCAGGCCGGCC CCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGGACA CCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCG GCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACG GTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCC GCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTC CACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGG CCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAG AGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTC GGCCCCGGA	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4575		chr1	TogoVar
TUBGCP5_chr15_22994177_23044569	23042991	T T	TGCCGGGA others(836): Show TGCCGGGAGGACTTCATAACCACACCTGGCCAGAGGTACCGGGGGGACAT CATAACCACACCTGGCCAGAGGTGCCGGTGGGACTTCATAACCCCACCTG GCCAGAGGTGCCGGGGGGACTTCATAACCACACGTGGACAGAGGTGCCGG GGGGACATCATAACCACACCTGGCCAGAGGTGCCGGGGGCACATCATAAC CTCACCTGGCCAGAGGTGCTGGGGGTGGGTATTATATCCCCACCTGGCCA GAGGTGCTGGGGGGGGACGTGATAACCACACTTGGCCAGAGGTGCCGGTG GGACTTCATAACCCCACCTGGCCAGAGGTGCCGGGGGGACTTCATAACCA CACCTGGCCAGAGGTGCCGGGGGGACATCATAACCACACCTGGCCAGAGG TGCCGGGGGGACAACATAACCACACCTGGCCAGAGGTGCCCGGAGGACTT CATAACCACACCTGGCCAGAGGTGCCGGGAGGACTTCATAACCACACCTG GCCAGAGGTGCCGGGCGGACTTCATAACCACACCTGGCCAGAGGTGCTGG GGGACATCATAACCCCACCTGGCCAGAGGTGCCAGGGGGGACATCATAAC CCCACCTGGCCAGAGGTGCTGGGGGACATCATAATCCCACCTGGCCAGAG GTGCTGTGGGGCCATCATAACCCCACTTGGCCGGAGGTGCTGGGGGGCGG GGGGAACTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGTGAATTCATT ACTGTCACCTGGCCAGAGGTGCTGGGGGGATTTCATAACCCCACCTGGCT AGAGGTGCTGCGGGGGACTTCATAACCACACCTGGCCAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01515.hp1 HG01517.hp1 HG00323.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0068 a0001c0001t0001g0177 a0001c0001t0001g0001 a0001c0001t0001g0068 a0001c0001t0001g0177	3	351	0.0086	843	c.-34 others(854): Show c.-3449_-3448insCACCTCTGGCCAGGTGTGGTTATGAAGTCCCCCG CAGCACCTCTAGCCAGGTGGGGTTATGAAATCCCCCCAGCACCTCTGGCC AGGTGACAGTAATGAATTCACCCCCAGCACCTCTGGCCAGGTGGGGTTAT GAAGTTCCCCCCGCCCCCCAGCACCTCCGGCCAAGTGGGGTTATGATGGC CCCACAGCACCTCTGGCCAGGTGGGATTATGATGTCCCCCAGCACCTCTG GCCAGGTGGGGTTATGATGTCCCCCCTGGCACCTCTGGCCAGGTGGGGTT ATGATGTCCCCCAGCACCTCTGGCCAGGTGTGGTTATGAAGTCCGCCCGG CACCTCTGGCCAGGTGTGGTTATGAAGTCCTCCCGGCACCTCTGGCCAGG TGTGGTTATGAAGTCCTCCGGGCACCTCTGGCCAGGTGTGGTTATGTTGT CCCCCCGGCACCTCTGGCCAGGTGTGGTTATGATGTCCCCCCGGCACCTC TGGCCAGGTGTGGTTATGAAGTCCCCCCGGCACCTCTGGCCAGGTGGGGT TATGAAGTCCCACCGGCACCTCTGGCCAAGTGTGGTTATCACGTCCCCCC CCAGCACCTCTGGCCAGGTGGGGATATAATACCCACCCCCAGCACCTCTG GCCAGGTGAGGTTATGATGTGCCCCCGGCACCTCTGGCCAGGTGTGGTTA TGATGTCCCCCCGGCACCTCTGTCCACGTGTGGTTATGAAGTCCCCCCGG CACCTCTGGCCAGGTGGGGTTATGAAGTCCCACCGGCACCTCTGGCCAGG TGTGGTTATGATGTCCCCCCGGTACCTCTGGCCAGGTGTGGTTATGAAGT CCTCCCGGC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3423		chr15	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(836): Show TATAATAATATAATATATATTATTATATGTTATTATATATAATAATATAA TATATATTATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATAATATAATATATATTATTATATGTTATTATATA TAATAATATAATATATATTATTATATGTTATTATATATAATAATATATAT TATTATATGTTATTATATATAATAATATATATTATTATATGTTATTATAT ATAATAATATAATATATATTATTATATGTTATTATATATAATAACATATT ATATATTATATGTTATTATATATAATAACATAATATATATTATATGTTAT TATATATAATAACATAATATATATTATATGTTATTATATATAATAACATA ATATATATTATTATATGTTATTATATATAATAACATAATATATATTATTA TATGTTATTATATATAATAACATAATATATATTATTATATGTTATTATAT ATAATAACATAATATATATTATTATATGTTATTATATATAATAATATAAT ATATATTATTATATGTTATTATATATAATAATATAATATATATTATTATA TGTTATTATATATAATAATATATATTATATTATTATATGTTATTATATAT AATAATATAATATATATTATTATATGTTATTATATATAATAATATAATAT ATATTATTATATATTATTTATTATATATAATATATATATAATTATATATA TTATATATTATTATATATAATATATATAATTATATATATTATATATATTA TATATAATAATAATATATATAATTATATATATTATATATAATAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0008 a0002c0003t0002g0008	1	238	0.0042	843	c.392 others(860): Show c.392+6154_392+6155insTTATTATATATAATATATATAATTATAT ATATTATTATTATATATAATATATATAATATATATAATTATATATATTAT ATATAATAATATATAATATATATAATTATATATATATTATATATAATAAA TAATATATAATAATATATATTATATTATTATATATAATAACATATAATAA TATATATTATATTATTATATATAATAACATATAATAATATAATATATATT ATTATATATAATAACATATAATAATATATATTATATTATTATATATAATA ACATATAATAATATATATTATATTATTATATATAATAACATATAATAATA TATATTATGTTATTATATATAATAACATATAATAATATATATTATGTTAT TATATATAATAACATATAATAATATATATTATGTTATTATATATAATAAC ATATAATAATATATATTATGTTATTATATATAATAACATATAATATATAT TATGTTATTATATATAATAACATATAATATATATTATGTTATTATATATA ATAACATATAATATATAATATGTTATTATATATAATAACATATAATAATA TATATTATATTATTATATATAATAACATATAATAATATATATTATTATAT ATAATAACATATAATAATATATATTATTATATATAATAACATATAATAAT ATATATTATATTATTATATATAATAACATATAATAATATATATTATATTA TTATATATAATAACATATAATAATATATATTATATTATTATATATAATAA CATATAATAATATATATTATATTATTATATATAATAACATATAATAATAT ATATTATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ULK1_chr12_131889622_131928150	131917102	G G	GTCGGGTT others(836): Show GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGG TGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTG GGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGG GCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0036 a0001c0003t0001g0036	1	344	0.0029	843	c.218 others(858): Show c.2182+44_2182+45insGTTCGGCTCGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGT GGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCG GAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGG TCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGT GGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGG GGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA CGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGA GGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917211	A A	ACGGGGGT others(836): Show ACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0257 a0001c0003t0003g0257	1	344	0.0029	843	c.218 others(860): Show c.2182+149_2182+150insCGGGGGTCGGGTGGGGCTCGGAGGCTGT GGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA CGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(836): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCC CCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCC CCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	246	0.0041	843	c.-10 others(860): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCC CCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCT TCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ABR_chr17_998519_1184981	1173225	A A	ACATCACC others(837): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTC AGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAG TCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCACCTCAG TCCACCCAACACATCACCTCAGCCCACCCAACACGTCACCTCAGCCCACC CAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGC CCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCT CAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCA GTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCACCTCA GCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCAC CCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCC CCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCCCAT CACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTC AGCCCACCCCCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCA CCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAAC ACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0039 a0001c0001t0027g0039	1	337	0.0030	844	c.61+ others(859): Show c.61+6441_61+6442insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGA TGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTT GGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGG GCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACT GAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGAT GTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGT GTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGT TGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTG GGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGAC TGAGGTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGT GATGTGTTGGGTGGACTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGA TGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATG TGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTG TTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGT GGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(837): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTTAAAAAA AAAAAAAAAATACATATATATATATATATTTAAAATTCCTTGTAAAAAGT GGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCAA AGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	336	0.0030	844	c.94+ others(859): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATGTATTTTTTTTTTTTTTTTAAATATATATTCTTTTTTTTTAAACGGAG TCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTG CAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAGGGAGAGGCA GGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTTTTTTTTTTT TTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTC TCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCCCAAAGTGC TAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATATATTTTTAA AGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGTTGACTTCT GCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTTCCACATGG GAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTTTCTTTTCT TTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCTCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG CCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGTAGAGACGG GGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(837): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTC GGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGGTGAGTAGA CGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGT GCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGG GCCAGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0013 a0013	a0013c0030 a0013c0030	a0013c0030t0013 a0013c0030t0013	a0013c0030t0013g0251 a0013c0030t0013g0251	1	338	0.0030	844	c.300 others(861): Show c.300-9268_300-9267insAGCGTGCGTAGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTG GTGTGTACGGGGCGGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC AGGTGAGTAGACGGCGTGCGTAGGGGCCAGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(837): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACATGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGT GCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0092 a0001c0092	a0001c0092t0009 a0001c0092t0009	a0001c0092t0009g0306 a0001c0092t0009g0306	1	338	0.0030	844	c.300 others(861): Show c.300-9268_300-9267insAGCGTGCGTAGGGGCCGGAGGCGGGGTA CATGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC AGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(837): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGT GCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCG GCATGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0170 a0002c0013t0001g0170	1	338	0.0030	844	c.300 others(861): Show c.300-9268_300-9267insAGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGTCGGCATGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC AGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(837): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGT GCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGAGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0131 a0001c0001t0001g0132	2	338	0.0059	844	c.300 others(861): Show c.300-9268_300-9267insAGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGAGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC AGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(837): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGT GCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01256.hp1 others(14): Show HG00639.hp2 HG01071.hp1 HG01256.hp1 HG01943.hp2 HG01978.hp1 HG02027.hp1 HG02273.hp2 HG02300.hp2 HG03516.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp1 NA18906.hp1 NA19010.hp1 NA19087.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0012 a0025	a0001c0001 a0001c0032 a0001c0041 others(6): Show a0001c0001 a0001c0032 a0001c0041 a0001c0086 a0002c0008 a0005c0003 a0006c0004 a0012c0036 a0025c0047	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0032t0021 a0001c0041t0001 a0001c0086t0001 a0002c0008t0005 a0005c0003t0001 a0005c0003t0009 a0006c0004t0004 a0012c0036t0001 a0025c0047t0005	a0001c0001t0001g0150 a0001c0001t0001g0211 a0001c0001t0001g0329 others(14): Show a0001c0001t0001g0150 a0001c0001t0001g0211 a0001c0001t0001g0329 a0001c0001t0002g0143 a0001c0001t0002g0161 a0001c0001t0002g0238 a0001c0001t0009g0213 a0001c0032t0021g0266 a0001c0041t0001g0220 a0001c0086t0001g0023 a0002c0008t0005g0252 a0005c0003t0001g0178 a0005c0003t0001g0179 a0005c0003t0009g0180 a0006c0004t0004g0024 a0012c0036t0001g0035 a0025c0047t0005g0247	17	338	0.0503	844	c.300 others(861): Show c.300-9268_300-9267insAGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC AGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(837): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGT GCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	338	0.0030	844	c.300 others(861): Show c.300-9268_300-9267insAGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC AGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(837): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTTGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGT GCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18969.hp1 NA19091.hp1 NA18964.hp1 NA18969.hp1 NA19091.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0018 a0001c0001 a0014c0018	a0001c0001t0002 a0014c0018t0004 a0001c0001t0002 a0014c0018t0004	a0001c0001t0002g0152 a0014c0018t0004g0034 a0014c0018t0004g0311 a0001c0001t0002g0152 a0014c0018t0004g0034 a0014c0018t0004g0311	3	338	0.0089	844	c.300 others(861): Show c.300-9268_300-9267insAGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTTGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC AGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(837): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGA TGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGT GCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCG GTGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0042 a0042	a0042c0083 a0042c0083	a0042c0083t0003 a0042c0083t0003	a0042c0083t0003g0038 a0042c0083t0003g0038	1	338	0.0030	844	c.300 others(861): Show c.300-9268_300-9267insAGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGATGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGTCGGTGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC AGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(837): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCC CCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTT CCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACA CTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCC TCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGC AGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCC CCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGC CCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGC ACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0095 a0003c0004t0003g0095	1	252	0.0040	844	c.-29 others(855): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGA GGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCT GCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGC AGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGG AAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAG GAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTG CTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGG GGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAG GGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTG CAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCTGCCA others(837): Show ACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCACCTTCCC ATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCAC CTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCACCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATTC TCACCTGCCACAGCTCACCTTCCCATTCTCACCTGCCACAGCTCACCTTC CTATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCC ACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCCATCCTCACCTGC CACGGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGCCC CCTCGCCTGCCACAGCTCACCTTCCTGTCCCCTCGCCTGCCACGGCCCAC CTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGC CACAGCTCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGTCC CCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCAC CTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGTCCCCTCACCTGC CACGGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGTCC CCTCACCTGCCACGGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCAC CTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCTGTCCCCTCG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0024 a0024	a0024c0054 a0024c0054	a0024c0054t0014 a0024c0054t0014	a0024c0054t0014g0006 a0024c0054t0014g0006	1	284	0.0035	844	c.411 others(861): Show c.4112+674_4112+675insCGAGGGGACAGGAAGGTGAGCTGTGGCA GGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTG GGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAGGTGAGGGGA CAGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCA GGCGAGGGGACAGGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTG GGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAGGCGAGGGGA CAGGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCA GGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTG AGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGA CAGGAAGGTGGGCCGTGGCAGGTGAGGATGGGAAGGTGGGCCGTGGCAGG TGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCT GTGGCGGGTGAGGATAGGAAGGTGAGCTGTGGCAGGTGAGAATGGGAAGG TGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGGCGGGTGAGGATG GGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTG AGGATGGGAAGGTGAGCTGTGGTGGGTGAGGATGGGAAGGTGAGCTGTGG CACGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAG CTGTGGCAGGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAA GGTGAGCTGTGGCAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CIB2_chr15_78099606_78136445	78101731	G G	GAGAGGCA others(837): Show GAGAGGCAGCTGCTAGATTTGGATGTAAGATGGGGGCTTCCAGGCCCTTC TAAGGGCATTCTCTACAGCAGATCAGGGTTCCCATCCCCTCCGTCTCAGC CTCTGCAGGGGTCTTAGCGCCTCTGGGAGCAGGAGAATGGCCCCTTTGCT CCTACTCCCTCACCTTGTAGCTTTGGGCAAGACAAATTCCAGGACAACCA GTTAAACCTGAATTACAGATAAACAACAAATATTTTTGAGGCCAGGCATG GTGGCTCATGTCTGTAATCCTAGCCCTTTGGGAGGCTGAGGCAGGTGGAT TGCTTGAGCTTGGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAATCCC ATCTCTATGAAAAAATACAAAAAATTGCCAGGCGTGGTGGCCTGTAGTCT CAGCTACCTGGCGGGCAGAAGCAGGAGGATGGCTTGAACCTGGGAGGTTA AAGTTGCAATGGGTCAAGATTGCACCACTGCACTCCAGCCTGGGAGACAA AGTGAGACCCTGTTTAAAAAAACAAACAAAAAACCAAACCAAAACAAAAC AAAAACCATTTTAAAGTATGTCTTAAATACCACAATTATTCCTTTGTTTA TCCGAAATTTAAATTTAACTGGCATCTATATTCTTGTTTAGCAACCCCAC CCAGGACCTCCATTTCCTCATCTGTAAAATGGGCTGATCCTCTGCTTGTA TCCAGGGGTAGGTGCCCAGAGGATAATGCTAGACACCCTCTCCTGCTCAG AACACAGCCCAGAGAGGGCTCTTGATGAACAGAGCTATTATTCTGAGGAT CTCTGGGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTATTGGTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	390	0.0026	844	c.35 others(855): Show c.3579_*3580insGCCACCAATACCACCACCACCACTACCACCACCA CCACCCCAGAGATCCTCAGAATAATAGCTCTGTTCATCAAGAGCCCTCTC TGGGCTGTGTTCTGAGCAGGAGAGGGTGTCTAGCATTATCCTCTGGGCAC CTACCCCTGGATACAAGCAGAGGATCAGCCCATTTTACAGATGAGGAAAT GGAGGTCCTGGGTGGGGTTGCTAAACAAGAATATAGATGCCAGTTAAATT TAAATTTCGGATAAACAAAGGAATAATTGTGGTATTTAAGACATACTTTA AAATGGTTTTTGTTTTGTTTTGGTTTGGTTTTTTGTTTGTTTTTTTAAAC AGGGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGTGCAATCTTGACC CATTGCAACTTTAACCTCCCAGGTTCAAGCCATCCTCCTGCTTCTGCCCG CCAGGTAGCTGAGACTACAGGCCACCACGCCTGGCAATTTTTTGTATTTT TTCATAGAGATGGGATTTTGCCATGTTGCCCAGGCTGGTCTCAAACTCCC AAGCTCAAGCAATCCACCTGCCTCAGCCTCCCAAAGGGCTAGGATTACAG ACATGAGCCACCATGCCTGGCCTCAAAAATATTTGTTGTTTATCTGTAAT TCAGGTTTAACTGGTTGTCCTGGAATTTGTCTTGCCCAAAGCTACAAGGT GAGGGAGTAGGAGCAAAGGGGCCATTCTCCTGCTCCCAGAGGCGCTAAGA CCCCTGCAGAGGCTGAGACGGAGGGGATGGGAACCCTGATCTGCTGTAGA GAATGCCCTTAGAAGGGCCTGGAAGCCCCCATCTTACATCCAAATCTAGC AGCTGCCTCT	CIB2	ENSG00000136425.14	transcript	ENST00000258930.8	protein_coding		2874		chr15	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(837): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCA CCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCT TCCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCA CTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCT TCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0254 a0001c0002t0009g0254	1	270	0.0037	844	c.162 others(865): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTC CTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCC TCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTC CTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCT CCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL21A1_chr6_56051590_56252580	56098108	T T	TATATAAA others(837): Show TATATAAATATATATAAATATATAAATATATATAAATATATATAAATATA AAAATATATATAAATATATAAATATATATAAATATATATGTAAATATATA AATATATATAAATATATATGTAAATATATAAATATATATAAATAAATATA TATAAATATATATAAATATAAATATATATATAAATATGTAATTATAAATA TATATGTAAATATATATAAATATAAATATATTTATAAATATATAAATATA AATATATTTATAAATATATAAATATATATAAAAATATATATAAATATATA AAAAAATATAAATATATATAAATATATAAATATATGTAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATAAATATATAAC TATACAAATAAATATATATAAATATATAAATATATAAAAATATATATAAA TATATATGTAAATATATAAATATATATATAAATATATATAAATATATATA AGTATATAAATATATATAAATATATATAAGTATATAAATATATATATAAA TATATATAAGTATATAAATATATATATAAATATATATAAGTATATAAATA TATATAAATATATATAAGTATATAAATATATATATAAATATATATAAGTA TATATAAATATATATAAATATATATAAGTATATATAAATATATATAAATA TATATAAGTATATATAAATATATATAAATATATATAAGTATATATAAATA TATATAAATATATATAAGTATATATAAATATATATAAATATATATAAATA TATGCAAATATATATAAATATATATATAAATAGATATATAAATAG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG03139.hp2 HG02293.hp2 HG03139.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0009 a0001c0002 a0005c0009	a0001c0002t0002 a0005c0009t0004 a0001c0002t0002 a0005c0009t0004	a0001c0002t0002g0173 a0005c0009t0004g0072 a0001c0002t0002g0173 a0005c0009t0004g0072	2	264	0.0076	844	c.181 others(863): Show c.1812+3363_1812+3364insCTATTTATATATCTATTTATATATAT ATTTATATATATTTGCATATATTTATATATATTTATATATATTTATATAT ACTTATATATATTTATATATATTTATATATACTTATATATATTTATATAT ATTTATATATACTTATATATATTTATATATATTTATATATACTTATATAT ATTTATATATATTTATATATACTTATATATATTTATATATATATTTATAT ACTTATATATATTTATATATATTTATATACTTATATATATTTATATATAT ATTTATATACTTATATATATTTATATATATATTTATATACTTATATATAT TTATATATATTTATATACTTATATATATTTATATATATTTATATATATAT TTATATATTTACATATATATTTATATATATTTTTATATATTTATATATTT ATATATATTTATTTGTATAGTTATATATTTATATATATTTATATATATTT ATATATATTTATATATATATTTATATATATTTACATATATTTATATATTT ATATATATTTATATTTTTTTATATATTTATATATATTTTTATATATATTT ATATATTTATAAATATATTTATATTTATATATTTATAAATATATTTATAT TTATATATATTTACATATATATTTATAATTACATATTTATATATATATTT ATATTTATATATATTTATATATATTTATTTATATATATTTATATATTTAC ATATATATTTATATATATTTATATATTTACATATATATTTATATATATTT ATATATTTATATATATTTTTATATTTATATATATTTATATATATTTATAT ATTTATATATATTTATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098118	T T	TATATAAA others(837): Show TATATAAATATATAAATATATATAAATATATATAAATATAAAAATATATA TAAATATATAAATATATATAAATATATATGTAAATATATAAATATATATA AATATATATGTAAATATATAAATATATATAAATAAATATATATAAATATA TATAAATATAAATATATATATAAATATGTAATTATAAATATATATGTAAA TATATATAAATATAAATATATTTATAAATATATAAATATAAATATATTTA TAAATATATAAATATATATAAAAATATATATAAATATATAAAAAAATATA AATATATATAAATATATAAATATATGTAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATAAATATATAACTATACAAATA AATATATATAAATATATAAATATATAAAAATATATATAAATATATATGTA AATATATAAATATATATATAAATATATATAAATATATATAAGTATATAAA TATATATAAATATATATAAGTATATAAATATATATATAAATATATATAAG TATATAAATATATATATAAATATATATAAGTATATAAATATATATAAATA TATATAAGTATATAAATATATATATAAATATATATAAGTATATATAAATA TATATAAATATATATAAGTATATATAAATATATATAAATATATATAAGTA TATATAAATATATATAAATATATATAAGTATATATAAATATATATAAATA TATATAAGTATATATAAATATATATAAATATATATAAATATATGCAAATA TATATAAATATATATATAAATAGATATATAAATAGATATAAATAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18942.hp2 HG00558.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0184 a0001c0002t0002g0212 a0001c0002t0002g0184 a0001c0002t0002g0212	2	264	0.0076	844	c.181 others(863): Show c.1812+3353_1812+3354insCTATTTATATCTATTTATATATCTAT TTATATATATATTTATATATATTTGCATATATTTATATATATTTATATAT ATTTATATATACTTATATATATTTATATATATTTATATATACTTATATAT ATTTATATATATTTATATATACTTATATATATTTATATATATTTATATAT ACTTATATATATTTATATATATTTATATATACTTATATATATTTATATAT ATATTTATATACTTATATATATTTATATATATTTATATACTTATATATAT TTATATATATATTTATATACTTATATATATTTATATATATATTTATATAC TTATATATATTTATATATATTTATATACTTATATATATTTATATATATTT ATATATATATTTATATATTTACATATATATTTATATATATTTTTATATAT TTATATATTTATATATATTTATTTGTATAGTTATATATTTATATATATTT ATATATATTTATATATATTTATATATATATTTATATATATTTACATATAT TTATATATTTATATATATTTATATTTTTTTATATATTTATATATATTTTT ATATATATTTATATATTTATAAATATATTTATATTTATATATTTATAAAT ATATTTATATTTATATATATTTACATATATATTTATAATTACATATTTAT ATATATATTTATATTTATATATATTTATATATATTTATTTATATATATTT ATATATTTACATATATATTTATATATATTTATATATTTACATATATATTT ATATATATTTATATATTTATATATATTTTTATATTTATATATATTTATAT ATATTTATATATTTATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(837): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCA CCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCC ATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCT GTCCATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATC CATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCA TCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCCATCC ATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACC ATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTC ATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCATC CATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCATC CAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCAT CCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCAT GCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18906.hp1 HG03516.hp1 NA18906.hp1	a0001 a0012 a0001 a0012	a0001c0003 a0012c0043 a0001c0003 a0012c0043	a0001c0003t0004 a0012c0043t0043 a0001c0003t0004 a0012c0043t0043	a0001c0003t0004g0038 a0012c0043t0043g0037 a0001c0003t0004g0038 a0012c0043t0043g0037	2	272	0.0074	844	c.110 others(861): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATC CATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATC CATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCACCATCCAT TCACCCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCA TCCATCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCC ATTCACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATT CATCCATCCATCCATCCATCCATCCATTCATCCATCCACCATCCATCCAT CCATCCACCATCCATCCATCCACCATCCATCCATTCATACATCCATCATC CTCCCATTCATCCATCCATCCACCATCCATCCATTCATTCATCCATCCAT CCATCCATCCATCCATCCATCCACCATCCATCCACCCATCCATCCACCAT CCATCCATCCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCA TCCGTCCATCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCA TCCATCCATGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCA CCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(837): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCA CCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCC ATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCT GTCCATCCATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACC CATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCAT CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCA CCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCC ATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACC ATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTC ATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCATC CATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCATC CAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCAT CCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCAT GCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0255 a0001c0003t0003g0255	1	272	0.0037	844	c.110 others(861): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATC CATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATC CATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCACCAT CCATTCACCCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAA TTCATCCATCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACC ATCCATTCACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATT AATTCATCCATCCATCCATCCATCCATTCATCCATCCACCATCCATCCAT CCATCCACCATCCATCCATCCACCATCCATCCATTCATACATCCATCATC CTCCCATTCATCCATCCATCCACCATCCATCCATTCATTCATCCATCCAT CCATCCATCCATCCATCCATCCACCATCCATCCACCCATCCATCCACCAT CCATCCATCCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCA TCCGTCCATCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCA TCCATCCATGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCA CCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(837): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCGTCCATCCA CCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCC ATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCT GTCCATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATC CATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCA TCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCCATCC ATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACCATCC ATCCATCCACCATCCATCCATTCATACTTCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCATCCATC CATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCATC CAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCAT CCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCAT GCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03195.hp2 HG02976.hp1 HG03195.hp2	a0001 a0001	a0001c0018 a0001c0051 a0001c0018 a0001c0051	a0001c0018t0008 a0001c0051t0007 a0001c0018t0008 a0001c0051t0007	a0001c0018t0008g0179 a0001c0051t0007g0202 a0001c0018t0008g0179 a0001c0051t0007g0202	2	272	0.0074	844	c.110 others(861): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCC GTCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATC CATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATC CATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCACCATCCAT TCACCCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCA TCCATCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCC ATTCACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATT CATCCATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCAT CCACCATCCATCCATCCACCATCCATCCATTCATACTTCCATCATCCTCC CATTCATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCAT CCATCCATCCATCCATCCATCCACCATCCATCCACCCATCCATCCACCAT CCATCCATCCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCA TCCGTCCATCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCA TCCATCCATGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCA CCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(837): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA TCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCAT TCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCA TCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCC ATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCC ATCTGTCCATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACC CATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCAT CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCA CCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCC ATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACC ATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTC ATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCATC CATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCATC CAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCAT CCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCAT GCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0002 a0001c0007t0006g0002	1	272	0.0037	844	c.110 others(861): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCA TCCATCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTC ATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTC CATCCATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATT CATCCATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCACCAT CCATTCACCCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAA TTCATCCATCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACC ATCCATTCACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATT AATTCATCCATCCATCCATCCATCCATTCATCCATCCACCATCCATCCAT CCATCCACCATCCATCCATCCACCATCCATCCATTCATACATCCATCATC CTCCCATTCATCCATCCATCCACCATCCATCCATTCATTCATCCATCCAT CCATCCATCCATCCATCCATCCACCATCCATCCACCCATCCATCCACCAT CCATCCATCCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCA TCCGTCCATCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCA TCCATCCATGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCA CCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(837): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTG TGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCA CGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGGTTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	272	0.0037	844	c.925 others(859): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGGTTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(837): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTG TGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCA CGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01952.hp2 HG00323.hp2 HG01952.hp2	a0001 a0001	a0001c0011 a0001c0023 a0001c0011 a0001c0023	a0001c0011t0001 a0001c0023t0002 a0001c0011t0001 a0001c0023t0002	a0001c0011t0001g0191 a0001c0023t0002g0113 a0001c0011t0001g0191 a0001c0023t0002g0113	2	272	0.0074	844	c.925 others(859): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CUL4A_chr13_113204613_113272108	113232154	G G	GTCACCAC others(837): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCC ACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA CTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCAC CACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	396	0.0025	844	c.513 others(861): Show c.513-1023_513-1022insTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCC ACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA CTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCAC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTAC CTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DNAH10_chr12_123757301_123940714	123911540	A A	ACTGTCCC others(837): Show ACTGTCCCGGGGGGTCTGTCCTGGGGGGACTGTCCTGGGGGGATCTGTCC TGGGGGGGTCTGTCCTGGGGGCATCCGTCCTGGGGGGGTCTGTCCTGGGG GGGTCTGTCCTGGGGGGATCTGTCCTGGGGGGTTTGTCCTGGGGGAGTCT GTCCTGGGGGTGGTCTGTCCTGGAGGGGTCTGTCCTAGGGGAGTCTGTCC TGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGG GGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGGTCTGTCCTGGGGGCGT CTGTCCTGGGGGTGGTCTGTCCTGGGGGGGGTCTGTCCCGGGGGGGTCTG TCCCAGGGGATCTGTCCTTGGGGGACTGTCCTGGGGGGGTCTGTCCTGGG GGCATCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCCAGGGGGT CTGTCCTGGGGGGATCTGTCCTGGGGAGGTCTGTCCTGGGGGGTCTGTCC TGGAGGTGTCTGTCCTTGGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGG GGGGGTCTGTCCTAGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGT TTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGAGTCTG TCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGTCTGTCCTGG GGGCGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGG GTCTGTCCTGGGGGGGAGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGT CTGTCCTGGGGGGTTTGTCCTGGGGGGGGTCTGTCCTGGGGGCGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0107 a0001c0002t0002g0107	1	170	0.0059	844	c.101 others(863): Show c.10134+874_10134+875insCGGGGGGTCTGTCCTGGGGGGACTGT CCTGGGGGGATCTGTCCTGGGGGGGTCTGTCCTGGGGGCATCCGTCCTGG GGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGGGT TTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTCTGTCCTGGAGGGGTCTGT CCTAGGGGAGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCC GGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGG GTCTGTCCTGGGGGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGGGGGTC TGTCCCGGGGGGGTCTGTCCCAGGGGATCTGTCCTTGGGGGACTGTCCTG GGGGGGTCTGTCCTGGGGGCATCTGTCCTGGGGGGGGTCTGTCCTGGGGG GGTCTGTCCCAGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGAGGTCTG TCCTGGGGGGTCTGTCCTGGAGGTGTCTGTCCTTGGGGGGGGTCTGTCCT GGGGGAGTCTGTCCTGGGGGGGTCTGTCCTAGGGGGGTCTGTCCTGGGGG GTTTGTCCTGGGGGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGTC TGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCT GGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGGGGTCTGTCCTGGGG GGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGAGGTCTGTCCTGGGGGA GTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGGTCTG TCCTGGGGGCGTCTGTCC	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DPEP1_chr16_89608642_89643433	89619039	T T	TGCTCCCC others(837): Show TGCTCCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCC TCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAG CCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCC CTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGAC CCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAG CCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCGCTCCCCTCCCTGCAGC CCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	250	0.0040	844	c.-10 others(863): Show c.-107+5327_-107+5328insCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCA TGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC GCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCC CTGCCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTC CCTGCAGCCCCCTGACCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCC GCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTC CATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCTCCCCCGCTCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619063	C C	CCCCCCCT others(837): Show CCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCC CCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGC TCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	250	0.0040	844	c.-10 others(863): Show c.-107+5368_-107+5369insCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCC CTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC TGCTCCCCTCCCTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634828	C C	CCCTTTCC others(837): Show CCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCCTTCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCT GCCTTCTCCGTTCTCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCTTCC TTCCCTTCCCTTCCTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCCTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTCCCTC TTCCCTTTCCTTCTCCTTCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCTTCTCCTTTCCCTT CCTTCTCCTTCCCTCCTTCCTTCCTTCCTTCCCCTTCCCTCCATCTCCTA TCCCCTTCCATACCCTTCCACCTTCCCTTTCCCTTCTCTCCTTTCCCTCC TTCTCCCTCTTCCCTTCCTCCTTCTCCTTTCCCTCTTCCCTTCCCTTTCT CCTTCCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCTTCCCTTCCTT CTCCATTCCCTTCCTTCTCCTTTCCTTCCTTCTCCTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	250	0.0040	844	c.105 others(861): Show c.105-1080_105-1079insCCTTTCCCCTTCCTTCTCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCCTTCCCTTT CCCTTCCTTCTCCTTTCCCCTGCCTTCTCCGTTCTCTTCCTTCCCTTTCC CCTTCCTTCTCCTTTCCTTCCTTCCCTTCCCTTCCTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCTTCCCCTTCCTTCCC TTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTCCCTCTTCCCTTTCCTTCTCCTTCCTTCCTTCTC CTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCTTCTCCTTTCCCTTCCTTCTCCTTCCCTCCTTCCTTCCTTCCT TCCCCTTCCCTCCATCTCCTATCCCCTTCCATACCCTTCCACCTTCCCTT TCCCTTCTCTCCTTTCCCTCCTTCTCCCTCTTCCCTTCCTCCTTCTCCTT TCCCTCTTCCCTTCCCTTTCTCCTTCCCTTCCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCTTCCCTTCCTTCTCCATTCCCTTCCTTCTCCTTTCCTTCC TTCTCCTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTT CTCCTTTCCCTTCCTT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar

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