Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ACSF3_chr16_89088852_89161233	89137338	G G	GGGTCCCG others(599): Show GGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGA GCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGG GAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATT GAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAA AGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTTGTG GGGAACGAGTGAGGGGAAGAGCCCCGGGTCCCGGGGAGGACCACCAGGAG CTCAAGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACC AGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCTGGGAGGA CCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGG GAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGT CCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCC CAGGTCCCGGGAGGACCACCAGGAGCTTGTGGGGAAGGACTGAGGGGAAG AGCCCCA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0255 a0002c0003t0005g0255	1	368	0.0027	606	c.136 others(625): Show c.1366+4080_1366+4081insCCGGGAGGACCACCAGGAGCTCACGG GGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCT CACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAG GAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACC ACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTTGTGGGGAACGAGTGAGGGGAAGAGCCCCGGGTCC CGGGGAGGACCACCAGGAGCTCAAGGGGAAGGATTGAGGGGAAGAGCCCC AGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGA GCCCCAGGTCCTGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGG GAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATT GAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAA GGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTTGTG GGGAAGGACTGAGGGGAAGAGCCCCAGGTC		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89137345	G G	GGGAGGAC others(599): Show GGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCGG GTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGC CCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGA AGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGA GGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAG ATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTTGTGGG GAACGAGTGAGGGGAAGAGCCCCGGGTCCCGGGGAGGACCACCAGGAGCT CAAGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACC ACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGA GGACCACCAGGAGCTTGTGGGGAAGGACTGAGGGGAAGAGCCCCAGGTCT TGGGAGGACCACCAGGAGCTCATGGGGAAGGATTGAGGGGAAGAGCCCCG GGTCTCA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0358 a0002c0003t0005g0358	1	368	0.0027	606	c.136 others(625): Show c.1366+4130_1366+4131insGGGTCCCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAG GAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACC ACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCT CGGGAGGACCACCAGGAGCTTGTGGGGAACGAGTGAGGGGAAGAGCCCCG GGTCCCGGGGAGGACCACCAGGAGCTCAAGGGGAAGGATTGAGGGGAAGA GCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGG GAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATT GAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTTGTGGGGAA GGACTGAGGGGAAGAGCCCCAGGTCTTGGGAGGACCACCAGGAGCTCATG GGGAAGGATTGAGGGGAAGAGCCCCGGGTCTCAGGAGGACCACCAGGAGC TCACGGGGAAGGATTGAGGGGAAGAGCCCC		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89137345	G G	GGGAGGAC others(599): Show GGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCGG GTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGC CCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGA AGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGA GGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTTGTGGGGAACG AGTGAGGGGAAGAGCCCCGGGTCCCGGGGAGGACCACCAGGAGCTCAAGG GGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCTGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACC ACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGA GGACCACCAGGAGCTTGTGGGGAAGGACTGAGGGGAAGAGCCCCAGGTCT TGGGAGGACCACCAGGAGCTCATGGGGAAGGATTGAGGGGAAGAGCCCCG GGTCTCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0076 a0002c0003t0005g0076	1	368	0.0027	606	c.136 others(625): Show c.1366+4130_1366+4131insGGGTCCCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAG GAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACC ACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTTGTGGGGAACGAGTGAGGGGAAGAGCCCCGGGTCC CGGGGAGGACCACCAGGAGCTCAAGGGGAAGGATTGAGGGGAAGAGCCCC AGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGA GCCCCAGGTCCTGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGG GAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATT GAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTTGTGGGGAA GGACTGAGGGGAAGAGCCCCAGGTCTTGGGAGGACCACCAGGAGCTCATG GGGAAGGATTGAGGGGAAGAGCCCCGGGTCTCAGGAGGACCACCAGGAGC TCACGGGGAAGGATTGAGGGGAAGAGCCCC		ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(599): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0005 a0008c0011t0005	a0008c0011t0005g0041 a0008c0011t0005g0041	1	354	0.0028	606	c.523 others(625): Show c.523-13463_523-13462insAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGG		ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TACACGTA others(599): Show TACACGTATATACGTATACGTGTACACACATATATATACACGTATATATA CGTATACGTGTACACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATACGTATACGTGTACACACACACACGTATATACGTATACGTG TACACACACATACACGTATATACGTATACGTGTACACACATATACGTATA CGTGTACACACATATACACGTATACGTGTACACACATATACACGTATACG TGTACACACATATACACGTATACGTGTACACACATATACACGTATACGTG TACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTA CACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACA CACATATACACGTATACGTGTACACACATATACACGTATACGTGTACACA CATATAC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0100 a0001c0001t0004g0100	1	169	0.0059	606	c.48- others(623): Show c.48-70582_48-70581insACGTATATACGTATACGTGTACACACAT ATATATACACGTATATATACGTATACGTGTACACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATATACGTATACGTGTACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACAC ACGTATATACGTATACGTGTACACACACATACACGTATATACGTATACGT GTACACACATATACGTATACGTGTACACACATATACACGTATACGTGTAC ACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACAC ACATATACACGTATACGTGTACACACATATACACGTATACGTGTACACAC ATATACACGTATACGTGTACACACATATACACGTATACGTGTACACACAT ATACACGTATACGTGTACACACATATACACGTATACGTGTACACACATAT ACACGTATACGTGTACACACATATACAC		AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
ARFRP1_chr20_63693647_63712976	63693732	T T	TCCACCTC others(599): Show TCCACCTCCACCACCTCCACCACCACCACCTCCACCACCTCCACCACCTC CACCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCACCACCA CCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCTCC ACCTCCACCTCCACCACCACCACCTCCACCACCACCACCTCCACCACCAC CACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCTCCACCA CCACCACCTCCACCACCTCCACCTCCACCTCCACCACCACCACCTCCACC ACCACCTCCACCACCACCACCTCCACCTCCACCTCCACCACCACCACCTC CACCACCACCTCCTCCACCTCCACCACCTCCACCACCACCTCCACCACCA CCTCCTCCACCTCCACCACCTCCACCACCACCACCACCTCCACCACCACC ACCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCAC CTCCACCACCACCACCTCCACCACCACCTCCTCCACCTCCACCACCTCCA CCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCTCCTCC ACCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	296	0.0034	606	c.67 others(617): Show c.6710_*6711insTGGAGGTGGAGGAGGTGGTGGTGGAGGTGGTGGT GGAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGAGGTGGAGGAGGTGG TGGTGGAGGTGGTGGTGGTGGAGGTGGAGGTGGAGGTGGTGGTGGTGGAG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGAGGTGGTGGAGGTGGAGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTGG TGGAGGTGGAGGAGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGAGGTG GAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGA GGTGGAGGTGGTGGAGGTGGTGGTGGTGGAGGTGGAGGTGGAGGTGGTGG TGGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAG GTGGTGGTGGTGGAGGTGGAGGTGGAGGTGGAGGTGGAGGTGGTGGTGGT GGAGGTGGTGGTGGAGGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGAGG TGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGAGGTGGTGGAGGTGGTG GTGGTGGAGGTGGTGGAGGTGG		ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding					4914		chr20	TogoVar
ARHGEF3_chr3_56722420_56806949	56731592	C C	CCGGGTTT others(599): Show CCGGGTTTTAAGTTTTCTTTTTTTTTTTTTTTTTTTTTGGTGAAAGTTGC CATTAATTGTTTATTATCATTAAAAATAAATACATATGTTTCACTTCACA TGTGTTACACAGGTGCTTAATATTTTATTAATATAAATGCATAATTCATT TGCTCTTCACAACCACAAAAACTAGATACATGATTATTCCCATTTTGCAG ATAAGGAAACTAACACCCAAGTGAAATACTTTACCAAAGGTCACATAGGT AGTAAGTAACAACTGTGTGATCAGAGGAGAGCATTATCTCCAAACTTCGT GAGAGACACATATAAGCAATTAGTCCCTTACAGACTAAGAAATTTTGATA CAGACAATTTGTTGCAGATTCATAAGATAGTACAGCCAGTTCTGTGAATC ACAGTGTTATATTTATTTCCACATATTCTATGTTAATAATATAATTTTTA ATTCCATGTATTTTAAGTTTTCATTCAATAACTGCTATAAGTATATGCAG CTCTGAGAACAAGGGGGAAGAGAATAATTTCAGCCATTTAAAAATAGCTT TTATATTTAGATTTAAATATTTCAGTTGCTTTTTTTTTTTTTTTTTTTTT TTACTTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0190 a0001c0002t0002g0190	1	358	0.0028	606	c.122 others(623): Show c.1228+645_1228+646insAAAGTAAAAAAAAAAAAAAAAAAAAAAA GCAACTGAAATATTTAAATCTAAATATAAAAGCTATTTTTAAATGGCTGA AATTATTCTCTTCCCCCTTGTTCTCAGAGCTGCATATACTTATAGCAGTT ATTGAATGAAAACTTAAAATACATGGAATTAAAAATTATATTATTAACAT AGAATATGTGGAAATAAATATAACACTGTGATTCACAGAACTGGCTGTAC TATCTTATGAATCTGCAACAAATTGTCTGTATCAAAATTTCTTAGTCTGT AAGGGACTAATTGCTTATATGTGTCTCTCACGAAGTTTGGAGATAATGCT CTCCTCTGATCACACAGTTGTTACTTACTACCTATGTGACCTTTGGTAAA GTATTTCACTTGGGTGTTAGTTTCCTTATCTGCAAAATGGGAATAATCAT GTATCTAGTTTTTGTGGTTGTGAAGAGCAAATGAATTATGCATTTATATT AATAAAATATTAAGCACCTGTGTAACACATGTGAAGTGAAACATATGTAT TTATTTTTAATGATAATAAACAATTAATGGCAACTTTCACCAAAAAAAAA AAAAAAAAAAAAGAAAACTTAAAACCCG		ARHGEF3	ENSG00000163947.12	transcript	ENST00000296315.8	protein_coding	9/9						chr3	TogoVar
ARHGEF3_chr3_56722420_56806949	56731592	C C	CCGGGTTT others(599): Show CCGGGTTTTAAGTTTTCTTTTTTTTTTTTTTTTTTTTTTGGTGAAAGTTG CCATTAATTGTTTATTATCATTAAAAATAAATACATATGTTTCACTTCAC ATGTGTTACACAGGTGCTTAATATTTTATTAATATAAATGCATAATTCAT TTGCTCTTCACAACCACAAAAACTAGATACATGATTATTCCCATTTTGCA GATAAGGAAACTAACACCCAAGTGAAATACTTTACCAAAGGTCACATAGG TAGTAAGTAACAACTGTGTGATCAGAGGAGAGCATTATCTCCAAACTTCG TGAGAGACACATATAAGCAATTAGTCCCTTACAGACTAAGAAATTTTGAT ACAGACAATTTGTTGCAGATTCATAAGATAGTACAGCCAGTTCTGTGAAT CACAGTGTTATATTTATTTCCACATATTCTATGTTAATAATATAATTTTT AATTCCATGTATTTTAAGTTTTCATTCAATAACTGCTATAAGTATATGCA GCTCTGAGAACAAGGGGGAAGAGAATAATTTCAGCCATTTAAAAATAGCT TTTATATTTAGATTTAAATATTTCAGTTGCTTTTTTTTTTTTTTTTTTTT TTACTTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18967.hp1 NA18953.hp2 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0194 a0001c0002t0002g0256 a0001c0002t0002g0194 a0001c0002t0002g0256	2	358	0.0056	606	c.122 others(623): Show c.1228+645_1228+646insAAAGTAAAAAAAAAAAAAAAAAAAAAAG CAACTGAAATATTTAAATCTAAATATAAAAGCTATTTTTAAATGGCTGAA ATTATTCTCTTCCCCCTTGTTCTCAGAGCTGCATATACTTATAGCAGTTA TTGAATGAAAACTTAAAATACATGGAATTAAAAATTATATTATTAACATA GAATATGTGGAAATAAATATAACACTGTGATTCACAGAACTGGCTGTACT ATCTTATGAATCTGCAACAAATTGTCTGTATCAAAATTTCTTAGTCTGTA AGGGACTAATTGCTTATATGTGTCTCTCACGAAGTTTGGAGATAATGCTC TCCTCTGATCACACAGTTGTTACTTACTACCTATGTGACCTTTGGTAAAG TATTTCACTTGGGTGTTAGTTTCCTTATCTGCAAAATGGGAATAATCATG TATCTAGTTTTTGTGGTTGTGAAGAGCAAATGAATTATGCATTTATATTA ATAAAATATTAAGCACCTGTGTAACACATGTGAAGTGAAACATATGTATT TATTTTTAATGATAATAAACAATTAATGGCAACTTTCACCAAAAAAAAAA AAAAAAAAAAAAGAAAACTTAAAACCCG		ARHGEF3	ENSG00000163947.12	transcript	ENST00000296315.8	protein_coding	9/9						chr3	TogoVar
ASTN2_chr9_116418112_117420057	116840551	G G	GGGGGCTG others(599): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAG TGTGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCAC TTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCGCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGCGGCTGGCCA GGCGGGGGGCTGACCCCCCCCACCTGCCTCCCGGACGGAGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACC TCCCTCCCAGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGTGGCTGG CCGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGC CGGGCGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02698.hp2 HG03471.hp2 HG00735.hp1 HG02698.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0004 a0001c0001 a0001c0007 a0002c0004	a0001c0001t0008 a0001c0007t0001 a0002c0004t0001 a0001c0001t0008 a0001c0007t0001 a0002c0004t0001	a0001c0001t0008g0065 a0001c0007t0001g0011 a0002c0004t0001g0004 a0001c0001t0008g0065 a0001c0007t0001g0011 a0002c0004t0001g0004	3	102	0.0294	606	c.204 others(627): Show c.2041-19769_2041-19768insTCGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCACCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGG AGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTC CGGGAGGCAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGCGGGGTCA GCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCCTCTGC CCAGCCGCCCCTACTGGGAAGTGAGGAGCCACACTGCCCGGCCAGCCGCC CTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22						chr9	TogoVar
ATP13A3_chr3_194397677_194492002	194421151	A A	ACTATATA others(599): Show ACTATATATATAGTTTATATATATACTATATATATAGTTTATATATATAT ACTATATATATAGTTTATATATATATACTATATATATAGTATATATATAT ACTATATATATAGTTTATATATATATACTATATATATAGTTTATATATAT ATACTATATATATAGTTTATATATATATACTATATATATAGTTTATATAT ATATACTATATATATAGTTTATATATATATACTATATATATAGTTTATAT ATATATACTATATATATAGTTTATATATATATACTATATATATAGTTTAT ATATATATACTATATATATAGTTTATATATATATACTATATATATAGTTT ATATATATATACTATATATATAGTTTATATATATATACTATATATATAGT TTATATATATATACTATATATATAGTTTATATATATATACTATATATATA GTTTATATATATATACTATATATATAGTTTATATATATATACTATATATA TAGTTTATATATATATACTATATATATAGTTTATATATATATACTATATA TATAGTTTATATATATATACTATATATATAGTTTATATATATATACTATA TATATAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0266 a0001c0001t0045g0266	1	304	0.0033	606	c.331 others(625): Show c.3314-1185_3314-1184insCTATATATATAGTATATATATATAAA CTATATATATAGTATATATATATAAACTATATATATAGTATATATATATA AACTATATATATAGTATATATATATAAACTATATATATAGTATATATATA TAAACTATATATATAGTATATATATATAAACTATATATATAGTATATATA TATAAACTATATATATAGTATATATATATAAACTATATATATAGTATATA TATATAAACTATATATATAGTATATATATATAAACTATATATATAGTATA TATATATAAACTATATATATAGTATATATATATAAACTATATATATAGTA TATATATATAAACTATATATATAGTATATATATATAAACTATATATATAG TATATATATATAAACTATATATATAGTATATATATATAAACTATATATAT AGTATATATATATAAACTATATATATAGTATATATATATAAACTATATAT ATAGTATATATATATAAACTATATATATAGTATATATATATACTATATAT ATAGTATATATATATAAACTATATATATAGTATATATATATAAACTATAT ATATAGTATATATATAAACTATATATATAG		ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33						chr3	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(599): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA19088.hp1 NA18973.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	391	0.0051	606	c.36 others(617): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGAC		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					3464		chr19	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(599): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGA AGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAC GGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAG GAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAG GAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGA AGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGAAGGGGCAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGG GGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAA GGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	300	0.0033	606	c.-70 others(615): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGA GGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAA GGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGA AGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAG GAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGGAAGGGGAAGAAGGA GGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGG GGGAAGTGGGGAAGGGGAAG		BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding					511		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(599): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGA AGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAC GGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAG GAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAG GAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGA AGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGG GGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAA GGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	300	0.0033	606	c.-70 others(615): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGA GGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAA GGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGA AGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAG GAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGA GGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGG GGGAAGTGGGGAAGGGGAAG		BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding					511		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(599): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGA AGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAC GGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAG GAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAG GAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGA AGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGG GGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAA GGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02630.hp1 others(1): Show HG02055.hp1 HG02572.hp2 HG02630.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	300	0.0133	606	c.-70 others(615): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGA GGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAA GGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGA AGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAG GAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGA GGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGG GGGAAGTGGGGAAGGGGAAG		BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding					511		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGGA others(599): Show TGGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGGAGG GGGAAGGGGAGGAGGAAGGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGGAAGTGGGGGAAGAG GAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAA GGGGGGAAGGGGGAGGAGGAAGGGGGGAATGGGGAGGAGGAAGGGGGGAA GGGGGAGGAGGAAGGGTGGAAGGGGGAGGAGGAAGGGGGGGAAGGGGGAG GAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGGAAGACGGAGGAG GAGGAAGGGGAAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAA GGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGG GGAAGGGGGCAGTGGGAGGAGGAAAGGGGAAGAAGGAGGAGGAGGAAGGG GGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAA GGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	300	0.0033	606	c.-70 others(615): Show c.-704_-703insGGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAA AGAGGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGGAGGAAGGAGGAGGAG GAAGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGGA AGTGGGGGAAGAGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAA GGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAATGGGGAGG AGGAAGGGGGGAAGGGGGAGGAGGAAGGGTGGAAGGGGGAGGAGGAAGGG GGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG GAAGACGGAGGAGGAGGAAGGGGAAAGGGGAGTGGGAGGAGGAAGGGGAA GAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAG GAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGA GGAGGAGGAAGGGGGAAGGGGGCAGTGGGAGGAGGAAAGGGGAAGAAGGA GGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGG GGGAAGTGGGGAAGGGGAAG		BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding					511		chr20	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(599): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATCTGTATACATATGTATACATATCTGTATACATATGTGTATACAGATCT GTATACATATGTATACAGATCTGTATACATATGTGTATACATATCTGTAT ACATATGTGTATACAGATCTGTATACATATGTGTATACATATCTGTATAC ATATGTATACATATCTGTATACATATGTATACATATCTGTATACATATGT ATACATATCTGTATACATATGTATACATATCTGTATACATATGTATACAT ATCTGTATACATATGTATACATATCTGTATACATATGTATACATATCTGT ATACATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0047	1	342	0.0029	606	c.366 others(623): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACATATGTATACAGA TATGTATACATATGTATACAGATATGTATACATATGTATACAGATATGTA TACATATGTATACAGATATGTATACATATGTATACAGATATGTATACACA TATGTATACAGATCTGTATACACATATGTATACAGATATGTATACACATA TGTATACAGATCTGTATACATATGTATACAGATCTGTATACACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACAGATATGTATACA CATATGTATACAGATATGTATACACATATGTATACAGATATGTATACACA TATGTATATACAGATATGTATACACATATGTATATACAGATATGTATACA CATATGTATACAGATATGTATACATATGTATACAGATATGTATATACATA TGTATACAGATATGTATATACATATGTATACAGATATGTATACATATGTA TACAGATATGTATATACATATGTATACAGATATGTATATACAGATATGTA TACAGATATGTATATACAGATATGTATA		C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8						chr2	TogoVar
CACNA1B_chr9_137872782_138129619	138126885	C C	CCCCGGCC others(599): Show CCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGG CCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTG AGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCCA TGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGG GCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCC GCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAG TGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGA GGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACAC CGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAA GGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGC AGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCC CGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCC TGCAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0007 a0007c0016t0007	a0007c0016t0007g0054 a0007c0016t0007g0054	1	248	0.0040	606	c.48 others(617): Show c.4886_*4887insCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACA CCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAA GGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCA GGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCC GGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCT GCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGC AAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATG ACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGC GCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGC CAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTG CCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGG GCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCG TGAGCAAGAGGGCCCTGCAGTG		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding					2267		chr9	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(599): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTACGT GGGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCA GGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGG GTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTG GGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTG TGTACGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0001 a0005c0003t0001	a0005c0003t0001g0179 a0005c0003t0001g0179	1	338	0.0030	606	c.300 others(623): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTC		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CADM2_chr3_84953989_86079429	85818864	C C	CAAGGTTC others(599): Show CAAGGTTCTCGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAA GAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGTAT TGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0014 a0001c0001t0008g0014	1	146	0.0069	606	c.238 others(625): Show c.238+16677_238+16678insGGCGATTCCTCAGGGATCTAGAACTA GAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGA GTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGG CACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATG ATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGC AGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAAT TGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACAC CGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACA CAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGG GGGAGGGATAGTATTGGGAGATATACCTAATGCTAGATGACACATTAGTG GGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCAC AATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGGTTCTC		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CCDC183_chr9_136791338_136812741	136803080	G G	GGGGGCCC others(599): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	398	0.0025	606	c.666 others(621): Show c.666+360_666+361insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGC		CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(599): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATA TTTTATT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03831.hp1 NA19009.hp1 others(1): Show HG02074.hp1 HG03831.hp1 NA19009.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(1): Show a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0234	4	402	0.0100	606	c.80- others(621): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATATTTT ATTTATTTATTTTAATATATAAAATA		CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(599): Show AATAAATATATATAAATATATAAATATAAATATATATATAAATATGTAAT TCTAAATATATATGTAAATATATATAAATATATATATATTTATAAATATA TAAATATATATATTTATAAATATATAAATATATATATATTTATAAATATA TAAATATATATAAAAATATATATAAATATATAAAAAAATATAAATATATA TAAATATATAAATATATGTAAATATATATAAATATATATATAAATATATA TATAAATATATATATATAAATATATATAAATATATAACTATATAAATAAA TATATATAAATATATAAATATATAAAAATATATATAAATATATATGTAAA TATATAAATATATATAAATATATATAAATATATATAAGTATATAAATATA TATAAATATATATAAGTATATAAATATATATATAAATATATATAAGTATA TAAATATATATATAAATATATATAAGTATATAAATATATATAAATATATA TAAGTATATAAATATATATATAAATATATATAAGTATATATAAATATATA TAAATATATATAAGTATATATAAATATATAAAAATATATATAAGTATATA TAAATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG00639.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0041 a0001c0001t0008g0042 a0001c0001t0008g0041 a0001c0001t0008g0042	2	264	0.0076	606	c.181 others(625): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATTTACATATATTTATATATTTATATATATTTATATTTTTTT ATATATTTATATATATTTTTATATATATTTATATATTTATAAATATATAT ATATTTATATATTTATAAATATATATATTTATATATTTATAAATATATAT ATATTTATATATATTTACATATATATTTAGAATTACATATTTATATATAT ATTTATATTTATATATTTATATATATTTAT		COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29						chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(599): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATATATATATTTATAAATA TATATAAATATATATATATTTATAAATATATAAATATATATATTTATAAA TATATAAATATATATAAAAATATATATAAATATATAAAAAAATATAAATA TATATAAATATATAAATATATGTAAATATATATATATAAATATATATATA AATATATATATAAATATATATATAAATATATATATATAAATATATATAAA TATATAACTATATAAATAAATATATATAAATATATAAATATATAAAAATA TATATAAATATATATGTAAATATATAAATATATATAAGTATATAAATATA TATAAATATATATAAGTATATAAATATATATATAAATATATATAAGTATA TAAATATATATATAAATATATATAAGTATATAAATATATATAAATATATA TAAGTATATAAATATATATATAAATATATATAAGTATATATAAATATATA TAAATATATATAAGTATATATAAATATATAAAAATATATATAAGTATATA TAAATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	264	0.0038	606	c.181 others(625): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATTTACATATATATTTATATATATTTTTATATATTTATAT ATTTATATATATTTATTTATATAGTTATATATTTATATATATTTATATAT ATATATTTATATATATATTTATATATATATTTATATATATATTTATATAT ATATATTTACATATATTTATATATTTATATATATTTATATTTTTTTATAT ATTTATATATATTTTTATATATATTTATATATTTATAAATATATATATTT ATATATTTATAAATATATATATATTTATATATATTTATAAATATATATAT ATTTATATATATTTACATATATATTTAGAATTACATATTTATATATATAT TTATATTTATATATATTTATATATATTTAT		COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29						chr6	TogoVar
COL5A1_chr9_134636803_134849843	134729760	A A	ATGCGGGC others(599): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGT GAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC GTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGT GTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCT GTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCAT GAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGG GCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGC GTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02258.hp2 HG03195.hp1 others(2): Show HG01943.hp1 HG02258.hp2 HG03195.hp1 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0011 a0001c0045	a0001c0001t0008 a0001c0003t0032 a0001c0009t0001 others(2): Show a0001c0001t0008 a0001c0003t0032 a0001c0009t0001 a0001c0011t0007 a0001c0045t0004	a0001c0001t0008g0260 a0001c0003t0032g0004 a0001c0009t0001g0198 others(2): Show a0001c0001t0008g0260 a0001c0003t0032g0004 a0001c0009t0001g0198 a0001c0011t0007g0027 a0001c0045t0004g0104	5	272	0.0184	606	c.925 others(621): Show c.925-421_925-420insGTGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGG GCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCAC GGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGT GCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGC GTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGT GTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGA GCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGTGTGTGC		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729816	A A	ATGCGGGC others(599): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGT GAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC GTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGT GTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCT GTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCAT GAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGG GCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGC GTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0224 a0001c0004t0004g0224	1	272	0.0037	606	c.925 others(621): Show c.925-376_925-375insAGCGTGTGTGCGTGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCG TGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTG TGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG CGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTG		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
CPNE4_chr3_131528569_132040014	131978386	T T	TTATATAT others(599): Show TTATATATATATATTTATATATTTATATATATTTATATATATATTTATAT ATTTATATATTTATATATATTTATATATATATTTATATATTTATATATAT TTATATATATTTATATATATATTTATATATTTATATATATTTATATATAT TTATATATATATTTATATATTTATATATATTTATATATATTTATATATAT ATTTATATATTTATATATATTTATATATATTTATATATATATTTATATAT TTATATATATTTATATATATATTTATATATTTATATATATTTATATATAT ATTTATATATTTATATATATTTATATATATTTATATATATATTTATATAT TTATATATATTTATATATATTTATATATATATTTATATATTTATATATAT TTATATATATTTATATATATATTTATATATTTATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	94	0.0106	606	c.-2+ others(623): Show c.-2+56180_-2+56181insTAAATATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATAAATATATATATAAATATATATAAATATATATAAATATATAAATA TATATATAAATATATATAAATATATATAAATATATAAATATATATATAAA TATATATAAATATATATAAATATATAAATATATATATAAATATATATAAA TATATAAATATATATATAAATATATATAAATATATAAATATATATATAAA TATATATAAATATATATAAATATATAAATATATATATAAATATATATAAA TATATATAAATATATAAATATATATATAAATATATATAAATATATATAAA TATATAAATATATATATAAATATATATAAATATATATAAATATATAAATA TATATATAAATATATATAAATATATAAATATATAAATATATATATAAATA TATATAAATATATAAATATATATATATA		CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15						chr3	TogoVar
DCLK1_chr13_35763652_36136382	35958136	A A	AACCATCA others(599): Show AACCATCACCACCATCACTGCTATAACCACCATCACCACCACCACTATAA CCATCACCACCATCACCACCATCACCACTATAACCACCACTACCACCACC ACCATTATAACCATCACCACCACCACTATAACCACCATCATCATCACCAC CACTACCACTACTATAACCATCACCACCATCACTACTATAACCACCACCA CCACCACCACCACCACTATAATCATTACCACTATAACCACCACTACCACC ACTACCACTATGATAACCATCACCACCACCACTATAACCACCACCACCAC CACTATAACCATCACCACCATCACCACTATAACCACCACCACCACTATAA CCACCATCATCACCACCACCACTATAACCACCATCATCATCACCACCACT ACCACTACTGTAACCATCACCACCATCACCACTATAACCACCACCACCAC CACCACCATTATAACCATCACCACCACCACTATAACCACCATCATCATCA CCACCACCACCACCACTATAACCATCACCACCATCACCACTATAACCACC ACTACCACCACCACCATTATAACCATCACCACCACCACTATAACCACCAT CATCATC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19004.hp1 NA18977.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0047 a0001c0003t0001g0048 a0001c0001t0002g0047 a0001c0003t0001g0048	2	230	0.0087	606	c.724 others(625): Show c.724-10680_724-10679insGATGATGATGGTGGTTATAGTGGTGG TGGTGATGGTTATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATG GTGGTGATGGTTATAGTGGTGGTGGTGGTGGTGATGATGATGGTGGTTAT AGTGGTGGTGGTGATGGTTATAATGGTGGTGGTGGTGGTGGTGGTTATAG TGGTGATGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATGATGATG GTGGTTATAGTGGTGGTGGTGATGATGGTGGTTATAGTGGTGGTGGTGGT TATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAG TGGTGGTGGTGATGGTTATCATAGTGGTAGTGGTGGTAGTGGTGGTTATA GTGGTAATGATTATAGTGGTGGTGGTGGTGGTGGTGGTGGTTATAGTAGT GATGGTGGTGATGGTTATAGTAGTGGTAGTGGTGGTGATGATGATGGTGG TTATAGTGGTGGTGGTGATGGTTATAATGGTGGTGGTGGTAGTGGTGGTT ATAGTGGTGATGGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGAT GGTGGTTATAGCAGTGATGGTGGTGATGGT		DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16						chr13	TogoVar
DDX51_chr12_132131594_132149319	132136233	T T	TCCCGAGT others(599): Show TCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCT CCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGT GTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCC GCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTC CCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGT GTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCC CGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCT CCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTC CCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	606	c.30 others(617): Show c.3038_*3039insGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCG GGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGGAGGTGGGAGGTAG CGGGCACCGTGGGCACACTCGGGAGGTGGGAGGAGCGGGCACCGTGGGCA CACTCGGGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGGGAGGTG GGAGGAGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCAC CGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCG GGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGGAGGTGGGAGGAG CGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCACCGTGGGC ACACTCGGGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGGAGGTG GGAGGAGCGGGCACCGTGGGCACACTCGGGAGGTGGGAGGTAGCGGGCAC CGTGGGCACACTCGGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGG GGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAG CGGGCACCGGGGCACACTCGGG		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					360		chr12	TogoVar
DOCK1_chr10_126900428_127457516	126947340	T T	TTGGTGAT others(599): Show TTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATT ACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTA CTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGGTGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTG GTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTA CTGTTGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0134 a0001c0005t0006g0134	1	136	0.0074	606	c.47- others(623): Show c.47-23323_47-23322insGTGGTGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATT ACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTG GTAGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTA CTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTTGGTAGTATTACT GTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTG GTGGTTGGTAGTATTACTGTTGGTGGTG		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947906	T T	TTGGTGGT others(599): Show TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGT GGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACT GTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGG TGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGG TAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGT GGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTTGGTAGT ATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTA CTGTTGG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0085 a0001c0007t0001g0085	1	136	0.0074	606	c.47- others(623): Show c.47-22791_47-22790insGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT AGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACT GTTGGTGATGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGATGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGG TGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAG TATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTTGGTAGTATTACTGTTGGTGGTG		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK3_chr3_50669927_51389198	51015808	C C	CTATATAT others(599): Show CTATATATGATATATATATCATATATTTCTATATATGATATATATATCAT ATATTTCTATATATGATATATATATCATATATTTCTATATATGATATATA TATCATATATTTCTATATATGATATATATATCATATATTTCTATATATGA TATATATATCATATATTTCTATATATGATATATATATCATATATTTCTAT ATATGATATATATATCATATATTTCTATATATGATATATATATCATATAT TTCTATATATGATATATATATCATATATATGATATATATATCATATATTT CTATATATGATATATATATCATATATATGATATATATATCATATATTTCT ATATATGATATATATATCATATATATGATATATATATCATATATTTCTAT ATATGATATATATATCATATATATGATATATATATCATATATTTCTATAT ATGATATATATATCATATATTTCTATATATGATATATATATCATATATAT GATATATATATCATATATATGATATATATATCATATATTTCTATATATGA TATATATATCATATATATGATATATATATCATATATTTCTATATATGATA TATATAA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	212	0.0047	606	c.316 others(625): Show c.316-48596_316-48595insATCATATATTTCTATATATGATATAT ATATCATATATTTCTATATATGATATATATATCATATATTTCTATATATG ATATATATATCATATATTTCTATATATGATATATATATCATATATTTCTA TATATGATATATATATCATATATTTCTATATATGATATATATATCATATA TTTCTATATATGATATATATATCATATATTTCTATATATGATATATATAT CATATATATGATATATATATCATATATTTCTATATATGATATATATATCA TATATATGATATATATATCATATATTTCTATATATGATATATATATCATA TATATGATATATATATCATATATTTCTATATATGATATATATATCATATA TATGATATATATATCATATATTTCTATATATGATATATATATCATATATT TCTATATATGATATATATATCATATATATGATATATATATCATATATATG ATATATATATCATATATTTCTATATATGATATATATATCATATATATGAT ATATATATCATATATTTCTATATATGATATATATAATATATATGATATAT ATATCATATATTTCTATATATGATATATAT		DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52					INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK8_chr9_209865_470255	400325	C C	CCATCACC others(599): Show CCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCAGC ATCTTCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCAC CACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCA CCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCAC CACCACCACCTCCACCACCACCTCCTCCTTCACCATCACCATCACCACCA TCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACC ATCACCACCATCACCTCCACCATCACCACCACCACCTCCACCATCACCAC CATCACCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCTCCA CCACCACCTCCTTCACCATCACCACCACCACCTCCACCATCACCACCATC ACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCAC CACCTCCTTCACCATCACCACCACCACCTCCACCACCACCTCCTTCACCA TCACCAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0032 a0032	a0032c0089 a0032c0089	a0032c0089t0001 a0032c0089t0001	a0032c0089t0001g0120 a0032c0089t0001g0120	1	256	0.0039	606	c.323 others(625): Show c.3234+1068_3234+1069insTCACCACCACCACCTCCACCATCACC ACCACCTCCACCATCACCAGCATCTTCACCATCACCACCACCTCCACCAT CACCACCACCTCCACCATCACCACCATCACCACCACCTCCACCATCACCA CCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCAT CACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCTCCTCCT TCACCATCACCATCACCACCATCACCTCCACCATCACCACCACCTCCACC ATCACCACCACCACCTCCACCATCACCACCATCACCTCCACCATCACCAC CACCACCTCCACCATCACCACCATCACCTCCACCATCACCACCTCCTTCA CCATCACCACCACCACCTCCACCACCACCTCCTTCACCATCACCACCACC ACCTCCACCATCACCACCATCACCTCCACCATCACCACCACCTCCACCAT CACCACCACCACCTCCACCACCACCTCCTTCACCATCACCACCACCACCT CCACCACCACCTCCTTCACCATCACCATCA		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716360	T T	TGTGTTGG others(599): Show TGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG GGAGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGTCATGGTGGGGAGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGAGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGTCATGGTGGGGAGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGT GGGGAGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTCA TGGTGGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTTGTG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0102 a0001c0003t0001g0102	1	170	0.0059	606	c.86- others(619): Show c.86-263_86-262insTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGAGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAG GAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGG TGGGGGAGGAAGTTGTGGTGTCATGGTGGGGAGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGAGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGAGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGTCATGGTGGGGAGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AGGAAGTTGTGTCATGGTGGGGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGGTG		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716448	T T	TTGGTGTC others(599): Show TTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGG TGGGGGGGAGGAAGTTGTGGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGT GTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCG TGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAA GTTGTGG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19007.hp2 NA19080.hp1 NA18947.hp2 NA19007.hp2 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028	3	170	0.0177	606	c.86- others(619): Show c.86-161_86-160insGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGG TGGGGGGGAGGAAGTTGTGGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGT GTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCG TGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAA GTTGTGGTGGTGTCATGGTGGGGG		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EML1_chr14_99788413_99947060	99928029	G G	GTGGTGGT others(599): Show GTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTG GTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGATGATGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTG GTGGTGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0087 a0003c0002t0001g0087	1	288	0.0035	606	c.190 others(625): Show c.1909+7160_1909+7161insATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTG GTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGATGGTGGTGGTGAT GGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTG ATGGTGGTGATGGTGGTGGTGATGGTGGTG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
FHIT_chr3_59742277_61256452	60551497	G G	GGGGGAAG others(599): Show GGGGGAAGAGGTGAGATGGGAGGGGGGAGGAGGGGAGATGGGAGGGGGGA GGAGGGGAGGGGAGGGGAGGAGGGGAGGGGAGGGGAGGAGGGGAGGGGAG GGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGGGGAGGGGA GGAGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGA AGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAG GGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAA GGGGAGGGGAGGAGGGGAGGGGAAGGGGAGGGGAGAGGAGGGGGAGGGGA AGAAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGGAGGGGGGAGGA GGGGAGGAGAGGGGAGGGGGAGGGGGGAGGAGGGGAGGAGGTGTGGGGGG AGGGTGGAGGGGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGAGGGGAGC GGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGAGGGGAGCAGGGAG GAGGGGAGGGGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGAGGGGAGGGG GAGGGGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	46	0.0217	606	c.-17 others(625): Show c.-17-14519_-17-14518insTCCCCTCCCCCTCCCCTCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCTCCCTGCTCCCCTCCCCT CCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCTCCCCTC CCCTCCTCCCCCTCCCCTCCCCCTCCACCCTCCCCCCACACCTCCTCCCC TCCTCCCCCCTCCCCCTCCCCTCTCCTCCCCTCCTCCCCCCTCCCCCTCC CCTCTCCTCCCCTCCCCTCTCCTCCCCTTCTTCCCCTCCCCCTCCTCTCC CCTCCCCTTCCCCTCCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCC TCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTTCTT CCCCTCCCCTCCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCT CCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTTCTTCCCC TCCCCTCCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCCCTCCCATCTCCCC TCCTCCCCCCTCCCATCTCACCTCTTCCCC		FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	4/9						chr3	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAA others(599): Show GTATATAAATATATATGTATGTATATTATATACATATAAATATATATGTA TATAATATATATGTATGTATATTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACAAACATATAAA TATATATATTTATATACATATAATACATATACATATATACATATAAATAT ATATTTATATATATAAATATATATATTTATATATATAAATATATATATTT ATATATATAAATATATATATTTATATATATAAATATATATATTTATATAT ATAAATATATATATTTATATATATATAAATATATATATTTATATATATAT ACATATAAATATATATTTATATACATATAAATATATAATTATATACATAT AAATATATATAATTATATACATATAAATATATATTTATATACATATAAAT ATATATTTATATACATATAAATATATATATTTATATACATATAAATTTAT ATACATATAAATATATATATTTATATTTATATACATATAAATATAAATAT TTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0160 a0002c0002t0001g0160	1	292	0.0034	606	c.49 others(617): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATA TAAATATATATATTTATATGTATATAAATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATTTA TATGTATATAATTATATATATTTATATGTATATAATTATATATTTATATG TATATAAATATATATTTATATGTATATATATATAAATATATATATTTATA TATATATAAATATATATATTTATATATATAAATATATATATTTATATATA TAAATATATATATTTATATATATAAATATATATATTTATATATATAAATA TATATATTTATATATATAAATATATATTTATATGTATATATGTATATGTA TTATATGTATATAAATATATATATTTATATGTTTGTAAATATATATTTAT ATGTATGTAAATATATATTTATATGTATATAAATATATATATTTATATGT ATATAAATATATATTTATATGTATATAAATATATATATTTATATGTATAT AATATACATACATATATATTATATACATATATATTTATATGTATATAATA TACATACATATATATTTATATA		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding					4182		chr13	TogoVar
GABRA5_chr15_26862062_26954208	26893414	T T	TTGTGTGT others(599): Show TTGTGTGTGTATGGTGTGTGTATGTAGTGTGTGGTGTGTGTATATTTGTA TGTGTGGCGCGTGTGTGTACAGCGTGTGTGTGCGTGTGTGGTGTATGTGG TGCATATGGTGTATGTGTATAGTGTGTGGTGTGTGTGCATAGTTGTGTGT ATATGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTGTGTGTGTATATGG TGTGTTGTGTGTGTATGGTGTGTTGTGTGTATGGTGTGGTGTGTGTGGGG GCTATATGGGGTGTGTGTGTATGCTGTGGTGTATGTGTATGGTGTGTTGT GTGCATGGTGTGTGTATGTAGTGTGGTGTGTGTGTATATGTGTGTGTATG GTGTGTAGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGTGTGTGGTGC GTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTGTATTGTTGTG TGTATATGGTGTGTGGCGTGTGTGTATGGTATGTGGTGTGTGTGTATGGT GTGTGTGTGTGCATGCGGTGTGTATAGTATGTGGCGTGTGTTTATAGTTG TGTGTATATGGTGTGTGGCGTGTGTGCATAAGGTGTGTGTGTGTGTATAG TACGGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp2 HG01361.hp2 others(24): Show HG00558.hp2 HG00741.hp2 HG01361.hp2 HG01934.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02735.hp1 HG03942.hp1 HG04115.hp1 NA18943.hp2 NA18957.hp1 NA18970.hp2 NA18981.hp2 NA18988.hp2 NA18997.hp2 NA19005.hp2 NA19058.hp2 NA19081.hp1 NA19083.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(24): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0207 a0001c0001t0001g0230 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0306 a0001c0001t0001g0349 a0001c0001t0004g0092 a0001c0002t0001g0037 a0001c0002t0001g0109 a0001c0002t0001g0133 a0001c0002t0001g0160 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0284 a0001c0002t0001g0363 a0001c0002t0001g0364	27	376	0.0718	606	c.497 others(623): Show c.497+9876_497+9877insTATGTAGTGTGTGGTGTGTGTATATTTG TATGTGTGGCGCGTGTGTGTACAGCGTGTGTGTGCGTGTGTGGTGTATGT GGTGCATATGGTGTATGTGTATAGTGTGTGGTGTGTGTGCATAGTTGTGT GTATATGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTGTGTGTGTATAT GGTGTGTTGTGTGTGTATGGTGTGTTGTGTGTATGGTGTGGTGTGTGTGG GGGCTATATGGGGTGTGTGTGTATGCTGTGGTGTATGTGTATGGTGTGTT GTGTGCATGGTGTGTGTATGTAGTGTGGTGTGTGTGTATATGTGTGTGTA TGGTGTGTAGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGTGTGTGGT GCGTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTGTATTGTTG TGTGTATATGGTGTGTGGCGTGTGTGTATGGTATGTGGTGTGTGTGTATG GTGTGTGTGTGTGCATGCGGTGTGTATAGTATGTGGCGTGTGTTTATAGT TGTGTGTATATGGTGTGTGGCGTGTGTGCATAAGGTGTGTGTGTGTGTAT AGTACGGTGTGTGTGTGTATGGTGTGTG		GABRA5	ENSG00000186297.12	transcript	ENST00000335625.10	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRA5_chr15_26862062_26954208	26893414	T T	TTGTGTGT others(599): Show TTGTGTGTGTATGGTGTGTGTATGTAGTGTGTGGTGTGTGTATATTTGTA TGTGTGGCGCGTGTGTGTACAGCGTGTGTGTGCGTGTGTGGTGTATGTGG TGCATATGGTGTATGTGTATAGTGTGTGGTGTGTGTGCATAGTTGTGTGT ATATGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTGTGTGTGTATATGG TGTGTTGTGTGTGTATGGTGTGTTGTGTGTATGGTGTGGTGTGTGTGGGG GCTATATGGGGTGTGTGTGTATGCTGTGGTGTATGTGTATGGTGTGTTGT GTGCATGGTGTGTGTATGTAGTGTGGTGTGTGTGTATATGTGTGTGTGTG GTGTGTAGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGTGTGTGGTGC GTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTGTATTGTTGTG TGTATATGGTGTGTGGCGTGTGTGTATGGTATGTGGTGTGTGTGTATGGT GTGTGTGTGTGCATGCGGTGTGTATAGTATGTGGCGTGTGTTTATAGTTG TGTGTATATGGTGTGTGGCGTGTGTGCATAAGGTGTGTGTGTGTGTATAG TACGGTG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	376	0.0027	606	c.497 others(623): Show c.497+9876_497+9877insTATGTAGTGTGTGGTGTGTGTATATTTG TATGTGTGGCGCGTGTGTGTACAGCGTGTGTGTGCGTGTGTGGTGTATGT GGTGCATATGGTGTATGTGTATAGTGTGTGGTGTGTGTGCATAGTTGTGT GTATATGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTGTGTGTGTATAT GGTGTGTTGTGTGTGTATGGTGTGTTGTGTGTATGGTGTGGTGTGTGTGG GGGCTATATGGGGTGTGTGTGTATGCTGTGGTGTATGTGTATGGTGTGTT GTGTGCATGGTGTGTGTATGTAGTGTGGTGTGTGTGTATATGTGTGTGTG TGGTGTGTAGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGTGTGTGGT GCGTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTGTATTGTTG TGTGTATATGGTGTGTGGCGTGTGTGTATGGTATGTGGTGTGTGTGTATG GTGTGTGTGTGTGCATGCGGTGTGTATAGTATGTGGCGTGTGTTTATAGT TGTGTGTATATGGTGTGTGGCGTGTGTGCATAAGGTGTGTGTGTGTGTAT AGTACGGTGTGTGTGTGTATGGTGTGTG		GABRA5	ENSG00000186297.12	transcript	ENST00000335625.10	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(599): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCC CCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATC TTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCCTC CTGCCCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGGCCC CACATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGGCCCCACATCTT CTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCT GCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCCTCCTGGCCCCGC ATCTTCTCCTCCTGGTCCCGCATCTTCTCCTCCTGCTCCCATATCTTCTC CTGCTCCTGCATCTTCTCGTGTTCCCACAGCTTCTCCTTCTGTTCCGGTA GCCTCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0063 a0001c0063	a0001c0063t0009 a0001c0063t0009	a0001c0063t0009g0078 a0001c0063t0009g0078	1	396	0.0025	606	c.239 others(615): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGTGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGGCAGGAGGAGAA GATGTGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAGAAGATGTGGG GCCAGGAGGAGAAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAG GAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGA TGCGGGGCCAGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGG GCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGGGACAGGA GGAGAAGATGCGGGGGCCAG	p.Ala others(619): Show p.Ala799_Gly800insAlaGluAlaThrGlyThrGluGlyGluAlaVa lGlyThrArgGluAspAlaGlyAlaGlyGluAspMetGlyAlaGlyGlyG luAspAlaGlyProGlyGlyGluAspAlaGlyProGlyGlyGluAspAla GlyAlaGlyGlyGluAspValGlyAlaGlyGlyGluAspValGlyAlaGl yGlyGluAspValGlyAlaGlyGlyGluAspValGlyProGlyGlyGluA spValGlyAlaGlyGlyGluAspValGlyProGlyGlyGluAspAlaGly GlyArgArgArgArgCysGlyGlyArgArgArgArgCysGlyGlyArgAr gArgArgCysGlyGlyArgArgArgArgCysGlyGlyArgArgArgArgC ysGlyAlaArgArgArgArgCysGlyGlyArgArgArgArgCysGlyAla ArgArgArgArgCysGlyGlyGlnGluGluLysMetArgGlyGlnGluGl uLysMetArgGlyGlnGluGluLysMetArgGlyGlnGluGluLysMetA rgGlyAlaGlyGlyGluAspAlaGlyGlyArgArgArgArgCysGlyGly GlnGluGluLysMetArgGlyPro	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GTPBP6_chrX_299759_323796	322340	C C	CAAAAAAA others(599): Show CAAAAAAAAACAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTG CCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCC CAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACA AAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTG GTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGC TTGAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCTATT ATCTACAAAAAAAAAAAAAAAAAGAAAAGAGAAATTAGCCGGGCGTGGTG GTGGGTGCCTGTCGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGC TTGAGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCTATT ATCTACAAAAAAAAAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTG GTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATCGC TTGAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCTATT ATCTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0003 a0001c0024t0003	a0001c0024t0003g0106 a0001c0024t0003g0106	1	155	0.0065	606	c.-35 others(617): Show c.-3554_-3553insTGTAGATAATAGGGTCTTACCATATTGCCCATGC TGGCGTCAAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCGTCCCGAG CAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTC TTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGC TGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAG CAGCTGGGACGACAGGCACCCACCACCACGCCCGGCTAATTTCTCTTTTC TTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGC TGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAG CAGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCT TTTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTG CCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCG TCCCGAGCAGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTT TCTTTCTTTTTTGTTTTTTTTT		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					3545		chrX	TogoVar
GTPBP6_chrX_299759_323796	323687	T T	TGTGTGTG others(599): Show TGTGTGTGTGTGTGTAGCCGTCAATCTGGGCTCCTGGGTTCCGTCTGCCC TGTTCATAGAGACAGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACG TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGT CAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAAT GAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTC CGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGC TCAGGGACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAG TCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAG GGCGTCCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCC GTCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCT CAGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0021 a0007c0008t0001g0021	1	155	0.0065	606	c.-49 others(617): Show c.-4901_-4900insGTCCCTGAGCTCACCACCTGGGGACGCCCTCATT CCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACG GCTACACACACACACACACACACACACACACACACACACACACACGTCCC TGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAG ACGGAACCCAGGAGCCCAGGAGACTGACGGCTACACACACACACACACAC ACACACACACACAACGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTC CATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACGG CTACACACACACACACACACACACACACACACACACACACACGTCCCTGA GCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACG GAACCCAGGAGCCCAGGAGATTGACGGCTACACACACACACACACACACA CACACACACACACACACACACAACGTCCCTGAGCTCACCACCTGGGGACG CCCTCATTCTGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGAT TGACGGCTACACACACACACAC		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					4892		chrX	TogoVar
HPCAL1_chr2_10297904_10432604	10399262	T T	TCACCATC others(599): Show TCACCATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCC ACCGCCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCAC CACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCA CCACCATCACCATCACCACCACCACCACCACCACCACCACCATCACCACC ACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCAC CACCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCA CCATCACCATCATCACCACCACCACCACCACCACCATCACCATCACCACC ACCACCACCATCACCACCATCACCACCACCACCATCACCACCATCACCAC CACCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCA TCACCATCATCACCGCCGCCACCACCACCACCATCACCATCATCACCGCC ACCACCACCACCACCATCACCACCACAACCACCACCACCACCACCATCAC CACCACTACCACCACCACCACCACCATCACCACCACCACTACCATCATCA CCACCAC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	314	0.0032	606	c.-25 others(623): Show c.-25+2347_-25+2348insTCATCACCGCCACCACCACCACCACCAC CGCCGCCGCCGCCGCCACCGCCGCCACCACCACCACCATCACCATCATCA CCGCCGCCACCACCACCACCATCACCATCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCATCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCATCACCATCACCACCACCACCACCACCACCA TCACCATCATCACCACCACCACCACCACCACCACCATCACCATCATCACC GCCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCAC CATCACCATCACCACCACCACCACCATCACCACCATCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCACCATCACCATCATCACC GCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCAT CACCATCATCACCGCCACCACCACCACCACCATCACCACCACAACCACCA CCACCACCACCATCACCACCACTACCACCACCACCACCACCATCACCACC ACCACTACCATCATCACCACCACCACCA		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
ICA1_chr7_8108184_8267167	8152787	A A	ACCTCTTC others(599): Show ACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCAC CACCATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCT CCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACT ACCCCCACCACTACCACCATCACCATCACCTCCACCACCACCACCACCAC CACCACCATCTCCTTCAACACCACTACCCCCACCACTACCACCATCACCT CCACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCACC ATCACCATCACCTCCACCACCACCACCATCTCCTTCATCACCACTACCCC CACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCA ACACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACC ATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCATCAC CACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCA CCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATC ACCTCCT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0209	1	274	0.0037	606	c.804 others(623): Show c.804+4328_804+4329insAGGAGGTGATGGTGATAGTGGTGGGGGT AGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGG AGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTG GTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGT GATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGG TGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAG ATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGT GGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGGTAGTGGTGG GGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGTGGTGGTGGTGGAG GTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGT GGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGG GGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTG GAGGAGATGGTGGTAGTGGTGGAAGAGG		ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13						chr7	TogoVar
IGSF9B_chr11_133891438_133961968	133932577	G G	GACAGACA others(599): Show GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGA CAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACAC AGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGG GAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACA GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGA CAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAG ACACAGGGAAGCCAGGTGGGAGAGCAGACAGAGACAGACACAGGGAAGCC AGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAG CAGACAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01175.hp1 others(3): Show HG01070.hp1 HG01071.hp1 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0075 a0001c0001t0013 a0001c0001t0075	a0001c0001t0013g0021 a0001c0001t0013g0022 a0001c0001t0013g0023 others(3): Show a0001c0001t0013g0021 a0001c0001t0013g0022 a0001c0001t0013g0023 a0001c0001t0013g0025 a0001c0001t0013g0026 a0001c0001t0075g0024	6	362	0.0166	606	c.968 others(621): Show c.968-365_968-364insATGTCTGCTCTCCCACCTGGCTTCCCTGTG TCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTCTGT CTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCA CCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCC TGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCT CTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTC CCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT CTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCT CCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCT TCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCT CTCCCACCTGGCTTCCCTGTGTCTGT		IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19						chr11	TogoVar
KANK1_chr9_499695_751103	514126	C C	CCCTCCTT others(599): Show CCCTCCTTCTCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCTCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCTCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCTCTTCCTCCCT CTCTCCCTCCTTCTCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCTCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCC CTCCCTCCCTCCCTCCCTCCTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTCTCT CCCTCCTTCTCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCC CTCCCTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0044 a0002c0044	a0002c0044t0015 a0002c0044t0015	a0002c0044t0015g0081 a0002c0044t0015g0081	1	254	0.0039	606	c.-84 others(623): Show c.-84+9372_-84+9373insCCTCCTTCTCTCCCTCCCTCCCTCCCTC CCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTCCCTCCC TCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TCTCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCC TCCCTCCCTCTCTTCCTCCCTCTCTCCCTCCTTCTCTCCCTCCCTCCCTT CCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCC TTCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTC CCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCTCCTTCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCC TCCCTCTCTTCCTCCCTCTCTCCCTCCTTCTCTCCCTCCCTCCCTTCCTC TCTCCCTTCCTCCCTCCCTCCCTCCCTT		KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11						chr9	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(599): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCC CCCACAGCCACCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGC CACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCAC AGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCC CACAGCT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0032 a0002c0002t0002g0032	1	312	0.0032	606	c.-41 others(621): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGC CACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACA GCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCA CAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCC CCCCACAGCCACCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAG CCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCA CAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCC CCACAGCTGCCCCCACAGCCGCCCCC		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(599): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGC CACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCAC AGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCC CACAGCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG01981.hp1 others(11): Show HG00140.hp1 HG00738.hp1 HG01981.hp1 HG03195.hp1 HG03471.hp1 HG04228.hp2 NA18945.hp2 NA18951.hp2 NA18964.hp2 NA18986.hp2 NA19064.hp2 NA19074.hp1 NA19085.hp2 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001	a0002c0002t0001g0030 a0002c0002t0001g0050 a0002c0002t0001g0087 others(11): Show a0002c0002t0001g0030 a0002c0002t0001g0050 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0002g0035 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0102 a0002c0004t0001g0070 a0002c0004t0001g0153	14	312	0.0449	606	c.-41 others(621): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGC CACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACA GCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCA CAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCC CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAG CCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCA CAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCC CCACAGCTGCCCCCACAGCCGCCCCC		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KIF25_chr6_167992671_168050091	167997234	G G	GGGGTCGG others(599): Show GGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGG GGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGGCGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTG CAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0316 a0001c0001t0002g0316	1	375	0.0027	606	c.-22 others(617): Show c.-2235_-2234insGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGA ATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGC AGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGG GGGCGGGGGAATCTGCAGAGAT		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					436		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997259	G G	GGGGGCGG others(599): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATAGG GTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATAGGGT CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	375	0.0027	606	c.-22 others(617): Show c.-2210_-2209insGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGA ATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTG CAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGGGCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGAT		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					411		chr6	TogoVar

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Search Results (Total: 10000 hits)