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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GTPBP6_chrX_299759_323796	316000	G G	GACACACA others(649): Show GACACACACACACACACACACACACACACACACACTAAATACATCCCGAC AGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACA CATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACA CAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAG ACACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACA CAAACACATACGCAGACACACACACACACACACACAGTAAATACATCCCG ACAGGGACAGACACACACACACAGACACACACACAGAGACACACACAAAC ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA CACACACACACACACACACACACTAAATACATCCCGACAGGGACAGACAC AGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATG GACACAAACACATACACACGCAGACACACACACACACACACAAACAGTAA ATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAA ACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACA CACACAC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0023 a0007c0008t0001g0023	1	155	0.0065	656	c.488 others(671): Show c.488-702_488-701insGTGTGTGTGTCTGCGTGTGTATGTGTTTGT GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG TCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGT GTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTG TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA TTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT GTGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTAC TGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCC TGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGT GTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTC TCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	316000	G G	GACACACA others(649): Show GACACACACACACACACACACACACACACACACACTAAATACATCCCGAC AGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACA CATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACA CAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAG ACACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACA CAAACACATACGCAGACACACACACACACACACACAGTAAATACATCCCG ACAGGGACAGACACACACACACAGACACACACACAGAGACACACACAAAC ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA CACACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAG ACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGA CACAAACACATACACACGCAGACACACACACACACACACAAACAGTAAAT ACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAAC ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA CACACAC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0026 a0026	a0026c0018 a0026c0018	a0026c0018t0002 a0026c0018t0002	a0026c0018t0002g0018 a0026c0018t0002g0018	1	155	0.0065	656	c.488 others(671): Show c.488-702_488-701insGTGTGTGTGTGTCTGCGTGTGTATGTGTTT GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG TGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGT GTGTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTG TGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATG TATTTAGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT GTGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTAC TGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCC TGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGT GTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTC TCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	316000	G G	GACACACA others(649): Show GACACACACACACACACACACACACACACACACTAAATACATCCCGACAG GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA TCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACA AACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGAC ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA AACACATACGCAGACACACACACACACACACACAGTAAATACATCCCGAC AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA CACACACACACACACACACACACTAAATACATCCCGACAGGGACAGACAC AGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATG GACACAAACACATACACACGCAGACACACACACACACACACAAACAGTAA ATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAA ACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACA CACACAC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19078.hp2 NA18973.hp1 NA19078.hp2	a0013 a0022 a0013 a0022	a0013c0016 a0022c0033 a0013c0016 a0022c0033	a0013c0016t0002 a0022c0033t0002 a0013c0016t0002 a0022c0033t0002	a0013c0016t0002g0009 a0022c0033t0002g0140 a0013c0016t0002g0009 a0022c0033t0002g0140	2	155	0.0129	656	c.488 others(671): Show c.488-702_488-701insGTGTGTGTGTCTGCGTGTGTATGTGTTTGT GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG TCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGT GTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTG TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA TTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGT TTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTG TGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGT GTGTGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTT ACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTC CCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGT GTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTG TCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	316000	G G	GACACACA others(649): Show GACACACACACACACACACACACACACACACACTAAATACATCCCGACAG GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA TCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACA AACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGAC ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA AACACATACGCAGACACACACACACACACACACAGTAAATACATCCCGAC AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA CACACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAG ACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGA CACAAACACATACACACGCAGACACACACACACACACACAAACAGTAAAT ACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAAC ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA CACACAC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0134 a0012c0013t0001g0134	1	155	0.0065	656	c.488 others(671): Show c.488-702_488-701insGTGTGTGTGTGTCTGCGTGTGTATGTGTTT GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG TGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGT GTGTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTG TGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATG TATTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGT TTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTG TGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGT GTGTGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTT ACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTC CCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGT GTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTG TCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTATTT others(649): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATTTTAT TTTATTTATTTTATTTTATTTTATTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0134 a0001c0011t0006g0134	1	394	0.0025	656	c.41- others(671): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAATAAAATAAAATAAAATAAATAAAATAAAATAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HRAS_chr11_527242_540576	530578	G G	GAGAAGGG others(649): Show GAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCG AGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGA AGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTG GAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGT CCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGACAGAAGGGCGAGTG TGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGG GGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGA GAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCC TGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGC GTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAG TGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAG GGCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGA CAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCC CCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	397	0.0025	656	c.19 others(667): Show c.1949_*1950insGTCCAGGGGACGCCACACTCCCCCTTCTCTCCAG GGGACGCCACACTCGCCCTTCTGTCCAGGGGACGCCACACTCCCCCTTCT CTCCAGGGGACGCCACACTCGCCCTTCTCTCCAGGGGACGCCACACTCGC CCTTCTCTCCAGGGGACGCCACACTCGCCCTTCTCTCCAGGGGACGCCAC ACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGA CGCCACACTCCCCCTTCTGTCCAGGGGACGCCACACTCCCCCTTCTCTCC AGGGGACGCCACACTCGCCCTTCTCTCCAGGGGACGCCACACTCCCCCTT CTCTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGGGACGCCACACTC CCCCTTCTCTCCAGGGGACGCCACACTCGCCCTTCTGTCCAGGGGACGCC ACACTGGCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGG GACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCT CCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTGGCCC TTCTCTCCAGGGGACGCCACACTCGACGCCACACTCCCCCTTCTGTCCAG GGGACGCCACACTCGCCCTTCT	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1663		chr11	TogoVar
INPP5D_chr2_233055342_233212903	233176499	G G	GGATGGAG others(649): Show GGATGGAGGGACGGATGGATGAATGGGTATGTGGGTGGGCGGATGGGTGA ATGGGTAGGTGGGTGGGCGGATGGATGGATGGATGAGTAGATGGATGGAT GAACAGGAGAATGGGTGGATGGATGGATGGATGGATGAATGGATGAACAG ATGGTTGGATGGATGAATAGGCGAATGGATAGGTGGGTGGGTGGATGGAT GGATAGATGGATGGATGTGTGGGTGGGTGAATGGATGGATGGATGGGTGG ATAGGTGGATGAATGGATGAATAGATGGAAGGATGGATAGATGGATGGAT AGGTGAATGGGTAGGTGGGTGGGCAGATGGATGGATGGATGGATGGACGG ATGGATGGATGGATGAGTAGATGAATGGATGAATAGGAGAATGGGTAGAT GGGTGGGTGGATGGATGGATGTGTGGGTGGGTGGAGGGAAGGATGGATGG ATGGATAAATGGATGGATAGGTGGATGGGTGGATGGAGGGATGGATGGAT GGATAGGTAAATGGGTAGGTGGGTGGGCGGAGGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGGTGAAGGTTAGATGGGTGGGCG GAGGGATGGATGGATGGATGGATAGGTGGATGAATGGATGAATAGATGGA TGGATGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0212 a0001c0004t0002g0212	1	310	0.0032	656	c.199 others(673): Show c.1990-766_1990-765insGATGGAGGGACGGATGGATGAATGGGTA TGTGGGTGGGCGGATGGGTGAATGGGTAGGTGGGTGGGCGGATGGATGGA TGGATGAGTAGATGGATGGATGAACAGGAGAATGGGTGGATGGATGGATG GATGGATGAATGGATGAACAGATGGTTGGATGGATGAATAGGCGAATGGA TAGGTGGGTGGGTGGATGGATGGATAGATGGATGGATGTGTGGGTGGGTG AATGGATGGATGGATGGGTGGATAGGTGGATGAATGGATGAATAGATGGA AGGATGGATAGATGGATGGATAGGTGAATGGGTAGGTGGGTGGGCAGATG GATGGATGGATGGATGGACGGATGGATGGATGGATGAGTAGATGAATGGA TGAATAGGAGAATGGGTAGATGGGTGGGTGGATGGATGGATGTGTGGGTG GGTGGAGGGAAGGATGGATGGATGGATAAATGGATGGATAGGTGGATGGG TGGATGGAGGGATGGATGGATGGATAGGTAAATGGGTAGGTGGGTGGGCG GAGGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGG TGAAGGTTAGATGGGTGGGCGGAGGGATGGATGGATGGATGGATAGGTGG ATGAATGGATGAATAGATGGATGGATGA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	17/26			chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TCCCCTCC others(649): Show TCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGC CCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCC CTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTG CCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCC TCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCC TGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCC TCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCC TCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCC CTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCT CCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCT CCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGC CCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCA TGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCCTCCCCTCCTCCCCTCCT GCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0161 a0001c0001t0024g0161	1	276	0.0036	656	c.65 others(667): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGGCA GGAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAG GGGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAG GAGGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGG GTACAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGG GCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGA GGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGGCAGGAG GGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCA GGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGG GGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGG AAGGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAG GAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGAGGGCAGGAGG GGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAG GAGGGGAAGGGGGCAGGAGGGG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
KIF26B_chr1_245149985_245714432	245443848	C C	CTCACTGT others(649): Show CTCACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCGG TCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCCT GCGGTCATCTCCCTCACTGTTCACCTAGAGTGGTCATCTCCCTCACTGTT CACCTAGAGGAGAGGTCATCTCCTTCACTGTTCACCCTGCGGTCATCTCC CTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTC ATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTA GAGCGGTCATCTCCCTCACCGTTCACCCTGCGGTCATCTCCCTCACCGTT CACCCTGTGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCAC TGTTCACCTAGAGCGGTCATCTCCCTTACTGTTCACCTAGAGCGGTCATC TCCCTCACTGTTCACCTAGAGGAGAGGTCATCTCCTTCACTGTTCACCCT GCGGTCATCTCCCTCACTGTTCACCCTGCAGTCATCTCCCTCACTGTTCA CCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTTAC TGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGGAGAGGTC ATCTCCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01071.hp2 HG01175.hp2 HG00323.hp1 HG01071.hp2 HG01175.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0015 a0001c0002 a0006c0015	a0001c0002t0010 a0006c0015t0015 a0001c0002t0010 a0006c0015t0015	a0001c0002t0010g0034 a0001c0002t0010g0035 a0006c0015t0015g0075 a0001c0002t0010g0034 a0001c0002t0010g0035 a0006c0015t0015g0075	3	160	0.0188	656	c.116 others(677): Show c.1166+24115_1166+24116insTAGAGCGGTCATCTCCCTCACTGT TCACCTAGAGCGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCT CACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGTGGTCAT CTCCCTCACTGTTCACCTAGAGGAGAGGTCATCTCCTTCACTGTTCACCC TGCGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTC ACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCT CACTGTTCACCTAGAGCGGTCATCTCCCTCACCGTTCACCCTGCGGTCAT CTCCCTCACCGTTCACCCTGTGGTCATCTCCCTCACTGTTCACCCTGCGG TCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTTACTGTTCACC TAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGGAGAGGTCATCTCCTT CACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCCTGCAGTCATCT CCCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGCGG TCATCTCCCTTACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACC TAGAGGAGAGGTCATCTCCTTCACTGTTCACC	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
LMF1_chr16_848634_975984	857776	C C	CAGTGGTG others(649): Show CAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTC GGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACG GGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCACGGGACGGGT GTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTG CGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAG TGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGG TGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTC TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0148 a0002c0007t0001g0148	1	294	0.0034	656	c.153 others(675): Show c.1530-3071_1530-3070insTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACGCACACCCGTC CCGAGACACCACGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGA GACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGA CACCACTGCACACCCATCCCGTGACACCACGCACACCCGTCCCGAGACAC CACGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCAC GCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTGC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCC GTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCC CGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	894225	G G	GCCCACCC others(649): Show GCCCACCCGTCCCCCTGTCCACTGGACTATCCGCCCACCCGTCCCCCGTC CACCGGACCGTCCGCCCACCCGTCCCCATGTCCATCAGACCGTCCGTCCA CCTGTCCCCCTGTCCCCTGTCCACCGGACCATTCGCCCACCCATCCCCCT GTCCACCTGGCCATCCGCCCACCTGTCTCCTGTCCACCGGACCGTCCACC CACCCGTCCCCCTGTCCACTGGACTGTCCGCCCACCTGTCCCCCTGTCCC CTGTCCACCGGACTGTCTGCCCACCCGTCCCCCTGTCCACCTGGCCATCC GCCCACCCATCCCCTGTCCACCGGACCGTCCACCCACCCGTCCCCCTGTC CAGCAGAACGTCCACCCACCCGTCCCCCTGTCCACTGGACTGTCCGCCCA CCTGTCCCCCTGTCCCCTGTCCACCGGACCGTCTGCCCACCCGTCCCCCT GTCCACCTGGCCATCCGCCCACCCATCCCCTGTCCACTGGACCGTCCACC CACCCGTCCCCCTGTCCAGCGGACCGTCCACCCACCCGTCCCCCTGTCCA GCGGACCGTCCACCCACCCGTCCCCCTGTCCACTGGACCGTCCGCCCACC TGTCCCCCTGTCCACCTGGCAGTGCGCCCACCCATCCCCTGTCCACCGGA CCGTCCA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	294	0.0034	656	c.664 others(673): Show c.664-1154_664-1153insTGGACGGTCCGGTGGACAGGGGATGGGT GGGCGCACTGCCAGGTGGACAGGGGGACAGGTGGGCGGACGGTCCAGTGG ACAGGGGGACGGGTGGGTGGACGGTCCGCTGGACAGGGGGACGGGTGGGT GGACGGTCCGCTGGACAGGGGGACGGGTGGGTGGACGGTCCAGTGGACAG GGGATGGGTGGGCGGATGGCCAGGTGGACAGGGGGACGGGTGGGCAGACG GTCCGGTGGACAGGGGACAGGGGGACAGGTGGGCGGACAGTCCAGTGGAC AGGGGGACGGGTGGGTGGACGTTCTGCTGGACAGGGGGACGGGTGGGTGG ACGGTCCGGTGGACAGGGGATGGGTGGGCGGATGGCCAGGTGGACAGGGG GACGGGTGGGCAGACAGTCCGGTGGACAGGGGACAGGGGGACAGGTGGGC GGACAGTCCAGTGGACAGGGGGACGGGTGGGTGGACGGTCCGGTGGACAG GAGACAGGTGGGCGGATGGCCAGGTGGACAGGGGGATGGGTGGGCGAATG GTCCGGTGGACAGGGGACAGGGGGACAGGTGGACGGACGGTCTGATGGAC ATGGGGACGGGTGGGCGGACGGTCCGGTGGACGGGGGACGGGTGGGCGGA TAGTCCAGTGGACAGGGGGACGGGTGGG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
MADCAM1_chr19_491486_510343	496853	G G	GGGGGCGC others(649): Show GGGGGCGCAGGAGAGAGCAGGGGGCGCAGGAGAGAGGAGGGGGCGCGGGA GAGGGGAGGAGGCGCGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGGG CGCGGTGAGCGGGGAGGGGACGCGGGAGAGAGGAGGGAGTTAGGAGGGGG CTCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGGGTGGCTCAGGAGAGAGG AGGGACGCAGGAGAGAGGAGGGGCGCAGGGGAGAGGAGGGGGCGCAGGAG AGTGGAGGGGGCTCAGGAGAGAGAAGGGGCGCAGGAGAGAGGAGGGGCGC GGAGGGGAGGGGGCGCAGGAGAGAGCAGGGGGCGCAGTAAAGTGAAGAGG ACTCAGGAGAGAGGAGGGGGCGCGGGAGAGGGGAGGGGGTTTGGAAGAGA AGGGGGGCTCGGGAGAGGGGAGGGGGCTCGGGAGAGGGGAGGGGGTTCGG AAGAGAAGGGGGGCCCGGGAGAGGGGAGGGGGCCCGGGAGAGGGGAGGGG GCTCGGGGGAGAGGAAGGGGCGCGGTGAGCGGGGAGGGGACGCGGGAGAG AGGAGGGAGTTAGGAGGGGGCTCAGGAGAGGGGAGGGGGCTCAGTAGAGT GGGGGGGCTCAGGAGAGAGGAGGGACGCAGGAGAGAGGAGGGGCGCAGGG GAGAGGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0021 a0021	a0021c0052 a0021c0052	a0021c0052t0001 a0021c0052t0001	a0021c0052t0001g0269 a0021c0052t0001g0269	1	364	0.0028	656	c.52+ others(669): Show c.52+318_52+319insCAGGGGGCGCAGGAGAGAGGAGGGGGCGCGGG AGAGGGGAGGAGGCGCGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGG GCGCGGTGAGCGGGGAGGGGACGCGGGAGAGAGGAGGGAGTTAGGAGGGG GCTCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGGGTGGCTCAGGAGAGAG GAGGGACGCAGGAGAGAGGAGGGGCGCAGGGGAGAGGAGGGGGCGCAGGA GAGTGGAGGGGGCTCAGGAGAGAGAAGGGGCGCAGGAGAGAGGAGGGGCG CGGAGGGGAGGGGGCGCAGGAGAGAGCAGGGGGCGCAGTAAAGTGAAGAG GACTCAGGAGAGAGGAGGGGGCGCGGGAGAGGGGAGGGGGTTTGGAAGAG AAGGGGGGCTCGGGAGAGGGGAGGGGGCTCGGGAGAGGGGAGGGGGTTCG GAAGAGAAGGGGGGCCCGGGAGAGGGGAGGGGGCCCGGGAGAGGGGAGGG GGCTCGGGGGAGAGGAAGGGGCGCGGTGAGCGGGGAGGGGACGCGGGAGA GAGGAGGGAGTTAGGAGGGGGCTCAGGAGAGGGGAGGGGGCTCAGTAGAG TGGGGGGGCTCAGGAGAGAGGAGGGACGCAGGAGAGAGGAGGGGCGCAGG GGAGAGGAGGGGCGCAGGAGAGAG	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAN2B2_chr4_6570189_6628362	6579111	T T	TCACCACC others(649): Show TCACCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCAC CACCACCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACC ACCACCACCACCACCATCACCACCACCACCATCACCACCACCATCACCAT CACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCATCACCACCATCACCACCATCACCAC CACCACCACCACCACCACCATCACCACCATCACCACCATCACCATCACCA CCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCA CCACCAC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	362	0.0028	656	c.391 others(671): Show c.391+618_391+619insCCACCACCACCACCACCACCATCACCACCA CCACCCTTCACCACCACCACCACCACCACCACCATCACCACCACCACCCT TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACC ACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATC ACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCAC CATCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCACCACCACCATCACCATCACCACCACCACCAT CACCACCATCACCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MCF2L_chr13_112964214_113104742	113079794	G G	GGTCCAGG others(649): Show GGTCCAGGCAGAGGAACGTCCAGGCAAGGGAGGGTCCACACAGAAGAGGG TCCAGGTAGAAGGCTATCCGCACGGAGGAGGGTCCAGGCAGAGGAGTGTC CATACGGAGGAGAGTCCAGGCAGAGGAGTGTCCATATGGAGGAGAGTCCA GGCAGAGGAGTGTCCATACCGAGGAGAGTCCAGGCAGAGGAACGTCTGAA TGGAGGAGGGTCCAGGCAGAGGAGAGTCCATACGGAAGAGGGTCCAGGCA GAGGGGCATCCGCACAGAGGAGGGTCCAGGCAGGGGAGTGTTCGTATGGA GGAGAGTCCAGGCAGAGGAGTGTCCATACCGAGGAGAGTCCAGGCAGAGG AACGTCTGAATGGAGGAGGGTCCAGGCAGAGGAGAGTCCATACGGAAGAG GGTCCAGGCAGAGGGGCATCCGCACAGAGGAGGGTCCAGGCAGGGGAGTG TTCGTATGGAGGAGAGTCCAGGCAGAGGAGTGTCCATACCGAGGAGAGTC CAGGCAGAGGAACGTCTGAATGGAGGAGGGTCCAGGCAGAGGAGAGTCCA TACGGAAGAGGGTCCAGGCAGAGGGGCATCCACACAGAGGAGGGTCCAGG CAGGGGAGTGTTCGTATGGAGGAGAGTCCAGGCAGAGGAGTGTCCATACC GAGGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0024 a0005c0014t0024	a0005c0014t0024g0100 a0005c0014t0024g0100	1	116	0.0086	656	c.180 others(675): Show c.1808+1070_1808+1071insCGTCCAGGCAAGGGAGGGTCCACACA GAAGAGGGTCCAGGTAGAAGGCTATCCGCACGGAGGAGGGTCCAGGCAGA GGAGTGTCCATACGGAGGAGAGTCCAGGCAGAGGAGTGTCCATATGGAGG AGAGTCCAGGCAGAGGAGTGTCCATACCGAGGAGAGTCCAGGCAGAGGAA CGTCTGAATGGAGGAGGGTCCAGGCAGAGGAGAGTCCATACGGAAGAGGG TCCAGGCAGAGGGGCATCCGCACAGAGGAGGGTCCAGGCAGGGGAGTGTT CGTATGGAGGAGAGTCCAGGCAGAGGAGTGTCCATACCGAGGAGAGTCCA GGCAGAGGAACGTCTGAATGGAGGAGGGTCCAGGCAGAGGAGAGTCCATA CGGAAGAGGGTCCAGGCAGAGGGGCATCCGCACAGAGGAGGGTCCAGGCA GGGGAGTGTTCGTATGGAGGAGAGTCCAGGCAGAGGAGTGTCCATACCGA GGAGAGTCCAGGCAGAGGAACGTCTGAATGGAGGAGGGTCCAGGCAGAGG AGAGTCCATACGGAAGAGGGTCCAGGCAGAGGGGCATCCACACAGAGGAG GGTCCAGGCAGGGGAGTGTTCGTATGGAGGAGAGTCCAGGCAGAGGAGTG TCCATACCGAGGAGAGTCCAGGCAGAGGAA	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MKRN1_chr7_140448033_140484505	140474001	A A	AAAGAAAG others(649): Show AAAGAAAGAAAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGA AAGAAAG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	434	0.0023	656	c.186 others(673): Show c.186-1991_186-1990insCTTTCTTTCTTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTCTCTTTCTTTCTT	MKRN1	ENSG00000133606.11	transcript	ENST00000255977.7	protein_coding	1/7			chr7	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(649): Show TGTATATATATATGTATATATATGTATATATATGTATATATATGTATATA TATGTATATATATATATGTATATATATATGTATATATATATGTATATATA TATGTGTATATATATGTATATATATGTATATATATATGTATATATATATG TATATATATGTATATATATGTATATATATATGTATATATATGTATATATA TATGTATATATATATGTATATATATATGTATATATATATGTATATATATA TGTATATATATGTATATATATATGTATATATATATGTATATATATGTATA TATATATGTATATATATATGTATATATATATGTATATATATATATGTATA TATATATGTATATATATATGTATATATATGTATATATATATGTATATATA TATGTATATATATATGTATATATATATGTATATATATATATGTATATATA TATGTATATATATATATGTATATATATATGTATATATATATGTATATATA TATGTATATATATATATGTATATATATATGTATATATATACATATATATA TGTATATATATATATGTATATATATATGTATATATATATATGTATATATA TATGTATATATATATGTATATATATATGTATATATATATATGTATATATA TATACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	410	0.0024	656	c.484 others(671): Show c.484-693_484-692insGTGTATATATATATACATATATATATATAC ATATATATATACATATATATATACATATATATATACATATATATATATAC ATATATATATACATATATATATATACATATATATATGTATATATATACAT ATATATATACATATATATATATACATATATATATACATATATATATACAT ATATATATACATATATATATATACATATATATATACATATATATATATAC ATATATATATACATATATATATACATATATATATACATATATATATACAT ATATATACATATATATATACATATATATATACATATATATATATACATAT ATATATACATATATATATACATATATATATACATATATATACATATATAT ATACATATATATATACATATATATACATATATATATACATATATATATAC ATATATATATACATATATATATACATATATATATACATATATATACATAT ATATATACATATATATACATATATATACATATATATATACATATATATAT ACATATATATACATATATATACACATATATATATACATATATATATACAT ATATATATACATATATATATATACATATATATACATATATATACATATAT ATACATATATATACATATATATATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTAT others(649): Show ATATTTATATATATTTTTATATATATAAAATCATATTTTATATATATTTA TATATATTTTTATATATATAAAATCATATTTTATATATATTTTATATATT ATATATATAAAATCTTATTTTATATATTATATATATATAAAATCTTATTT TATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATAT ATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATA TATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAA AATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATA TTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATC TTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTAATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATAT AAAATCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	330	0.0030	656	c.-5+ others(671): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATTAAATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATAT ATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATA TATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAA AATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATA TAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATA AGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATATA ATATATAAAATAAGATTTTATATATATAATATATAAAATATATATAAAAT ATGATTTTATATATATAAAAATATATATAAATATATATAAAATATGATTT TATATATATAAAAATATATATAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(649): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAA ATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	350	0.0029	656	c.-28 others(667): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTAT ATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NEU4_chr2_241804193_241822413	241806835	T T	TTCCCTCC others(649): Show TTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCC TCAACCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGC CTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGA GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCAG GCCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0032 a0002c0003t0002g0032	1	319	0.0031	656	c.-24 others(667): Show c.-2443_-2442insTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACCCTCCCTCCCCCCTCAACCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCA GGGACCTCCGCAGGCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCTCAGCCCAGAGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACC CAGGGACCTCCGCAGGCCACCC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2357		chr2	TogoVar
NKD2_chr5_1003802_1043943	1025391	G G	GTTGTCCC others(649): Show GTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCGTTGTCCCT GCTCTTTCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCC ACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGT GGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTC AGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTG TCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTC TTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCC GCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCC CATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTCCC TGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCC CACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTG TGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCC CAGCCCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG02572.hp2 others(4): Show HG02258.hp1 HG02486.hp2 HG02572.hp2 HG03098.hp2 HG03195.hp1 NA18522.hp1 NA21309.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0003 a0001c0001t0010 a0008c0011t0016 a0001c0001t0003 a0001c0001t0010 a0008c0011t0016	a0001c0001t0003g0004 a0001c0001t0003g0112 a0001c0001t0003g0113 others(2): Show a0001c0001t0003g0004 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0010g0004 a0008c0011t0016g0263	7	319	0.0219	656	c.142 others(673): Show c.142-6742_142-6741insTCTCTGTGGGCGTCTCAGCCCGTTGTCC CTGCTCTTTCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTC CCACCCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCT GTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTC TCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCAT TGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGC TCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCAC CCGCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGG GCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAG CCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCATTGTC CCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTT CCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTC TGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CCCAGCCCATTGTCCCTGCTCTTCCCAC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NLRP8_chr19_55942832_55993629	55993497	T T	TCTCCCCC others(649): Show TCTCCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCCTCCCCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0000 a0000	a0000c0001 a0000c0001	a0000c0001t0016 a0000c0001t0016	a0000c0001t0016g0144 a0000c0001t0016g0144	1	350	0.0029	656	c.55 others(667): Show c.5584_*5585insCTCCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCCTCC CCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTC	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4869		chr19	TogoVar
NOL4L_chr20_32438059_32590333	32563187	G G	GGGAGGGT others(649): Show GGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGG CAGGGAGGGTGGAGGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGG AGGGTGGGGAGGGAGGTGGAGGGAGAGTGGGGGAGGGCAGGGAGGGTGGA GGGGGGGAAAGTGGGGAGGGAGGGTGGAGGGGCAGGGAGGATGGAGGGAG GGAGAGTGGGGAAGGGGTGGAGGGGAGGAGGGAGGAAGGCAGGGGGGGAG GGAGGGAGAGTGGGGAGGGTGGAGGGGAGGGGAGGGTGGAGGGAGGGAGA GTGGGGAGGGTGGAGGGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGT GGGGAGGGTGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGG GAGAGTGGGGAGGGTGGAGGGCAGGGGAGTGGGGAGGGAGGGACAGTGGG GAGGTTGGAGGGGAGGGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGGA GGGTGGGGAGGGAGGGTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGTG GAGAGGGAGGGTGGAGGGGAAGGAGGGTGGAGGGAGGGAGAGTGGGGAAG GTGGAGGGGAGGGAGGGTGGAGGGCAGGGATGGTGGAGGGAGGGAGAGTG GGGAGGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0026 a0001c0001t0010g0026	1	196	0.0051	656	c.321 others(675): Show c.321+21382_321+21383insTCCTCCCCACTCTCCCTCCCTCCACC ATCCCTGCCCTCCACCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCCC TCCACCCTCCTTCCCCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCCA CTCTCCTTCCCTCCACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTCC CTGCCCTCCACCCTCCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCCC CACTCCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTG CCCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCTC CTCCCTCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCACCCTC CCCTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCCCCTGCCTTCCTC CCTCCTCCCCTCCACCCCTTCCCCACTCTCCCTCCCTCCATCCTCCCTGC CCCTCCACCCTCCCTCCCCACTTTCCCCCCCTCCACCCTCCCTGCCCTCC CCCACTCTCCCTCCACCTCCCTCCCCACCCTCCCTGTCCTCCATCCTCCC TCCCCACCCTCCCTCCCCTCCACCCTCCCTGCCTTCCACTCTCCCTCCCT CCCCTCCACCCTCCTTACCTTCTACCCTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOTCH1_chr9_136489433_136551048	136528441	A A	AGGGGGGG others(649): Show AGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACAGTGAG GGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGC AGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGAC AGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGC GATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGG CAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGAC AGTGCGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGT GAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGA TGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGG GCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGG GACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGAGG GGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGTGGG CAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGGCAG GGACAGT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0062 a0001c0062	a0001c0062t0005 a0001c0062t0005	a0001c0062t0005g0116 a0001c0062t0005g0116	1	324	0.0031	656	c.141 others(673): Show c.141-4463_141-4462insACTGTCCCTGCCCATCCCCCCCGCACTG TCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGC CCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCACCC CCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGT CCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCT GCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCC ACCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCC CCACTGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCCCCA CTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCT GCCCATCCCCCCCACTGTCCCTGCCCATCGCCCCACTGTCCCTGCCCACC CCCCACTGTCCTTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCAC TGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTG CCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCC CCCCTCACCGTCCCTGCCCATCCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(649): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGT GGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGG GTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0280 a0001c0003t0001g0280	1	324	0.0031	656	c.140 others(673): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGG ATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGG ATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCCCGG GAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(649): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAAACTATATAGTTTATATAG TTTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTT TAAACTATATAGTTTAAACTATATAGTTTTAAACTATATAGTTTAAACTA TATAGTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATA GTTTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAG TTTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTAT ATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGT TTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAA ACTATGTAGTTTTAAAACTATATAGTTTTAAACTATGTAGTTTTAAACTA TATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAG TTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAAAACTAT ATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTATATAGTTTAAACT ATATAGT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0225 a0001c0005t0001g0225	1	244	0.0041	656	c.342 others(675): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA ATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATAG TTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTTAAAACTACATAGTTTAAAACTATATAGTTTAA AACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAG TTTAAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTAC ATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAA AACTATATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATATAGTT TAAAACTATATAGTTTAAACTATATAGTTTAAAACTATATAAACTATATA GTTTTAAACTATATAAACTATATAGTTTAAACTATATAAACTATATAGTT TTAAAACTATATATAAACTATATAGTTTAAAACTATATATAAACTATATA GTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NXN_chr17_794310_984776	841445	C C	CACCCTGA others(649): Show CACCCTGACCACGGAGCATCTCACACGGGCGAGCGGGTCCCCCCTGACCA CGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCA CACGGGCAAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGC AGGTCCCCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCACCCTG ACCACGGAGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCAT CTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGC GAGCAGGTCCTCCCGACCATGGAGCATCTCACACCCGCGAGCAGGTCCTC CCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACGGAG CATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACG GGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACCCGCGAGCAGGT CCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCCGACCA CGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTC ACACCCGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGC AGGTCCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	242	0.0041	656	c.361 others(675): Show c.361-15368_361-15367insTGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCGGGGGGACCTGCTCGCGGGTGTGAGATGCTCCGTGGTCAGG GGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGGACCTGCT CGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCGGGTGTGAG ATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGG TCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGGGGACC TGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTG TGAGATGCTCCATGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGCGCCG TGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGG ACCTGCCCGTGGGTGTGAGATGCTCCGTGGTCAGGGTGGACCTGCTCGCC CGTGTGAGATGCTCCATGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCAGGGTGGACCTGCTTGCCCGTGTGAGATGCTCTGTGGTCGG GGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCCGCT CGCCCGTGTGAGATGCTCCGTGGTCAGGGT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841628	A A	AAGCAGGT others(649): Show AAGCAGGTCCACCCTGACCACGGCGCATCTCACGCCGGCGAGCAGGTCCC CCCGACCACAGAGCATCTCACACGGGCAAGCAGGTCCACCCTGACCACGG CGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGAGCATCTCACAC GGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACGCCGGCGAGCAGG TCCCCCCGACCACAGAGCATCTCACACGGGCAAGCAGGTCCACCCTGACC ACAGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTC ACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAG CAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCC TGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGC ATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGG GCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAGGTCC CCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACG GAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCAC ACGGGCG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	242	0.0041	656	c.361 others(675): Show c.361-15551_361-15550insCGCCCGTGTGAGATGCGCCGTGGTCA GGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTG AGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTG GTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGAC CTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCG TGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCG CCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGG AGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTT GCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCGGCGTGAGA TGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGT CGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCT GCTTGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCGGCGT GAGATGCGCCGTGGTCAGGGTGGACCTGCT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PCBP3_chr21_45638725_45947450	45896962	C C	CGGGCCAT others(649): Show CGGGCCATTGGCACTGTAGGAAAGGCAGACATGGCACATAGAACCAGAGA TGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAG AACTGGAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACAT GGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAA GGCGGCCGCCGGCAACATAGAACCAGAGATGCACTGCCCGGGCCATTGTC TCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGG GCCATTGGCACTGTAGGAAAGGCGCCGGCCGCGGCACATAGAACTGGAGA CGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAG AACCGGAGATGCACTGCCCGGGCCATTGGCACTGTAGGAAAGGCGGCCGC GGCACATAGAACCAGAGATGCACTGCCCGGGGCCATTGTCTCTGTAGGAA AGGCAGACATGGCACATAGAACCGGAGACGCACTGCCTGGGCCATTGTCT CTGTAGGAAAGGCAGACATGGCACATAGAACCAGAGATGCACTGCCCGGG CCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACTGGAGACGCA CTGCCCG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	292	0.0034	656	c.165 others(671): Show c.165+609_165+610insGCACTGTAGGAAAGGCAGACATGGCACATA GAACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCG CGGCACATAGAACTGGAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAA AGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCT CTGTAGGAAAGGCGGCCGCCGGCAACATAGAACCAGAGATGCACTGCCCG GGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATG CACTGCCCGGGCCATTGGCACTGTAGGAAAGGCGCCGGCCGCGGCACATA GAACTGGAGACGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACA TGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGGCACTGTAGGAA AGGCGGCCGCGGCACATAGAACCAGAGATGCACTGCCCGGGGCCATTGTC TCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGACGCACTGCCTGG GCCATTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCAGAGATGC ACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAAC TGGAGACGCACTGCCCGGGGCCATTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(649): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	436	0.0023	656	c.-26 others(667): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(649): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACAGATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	656	c.-26 others(667): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACA TCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATC TATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTA TCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGATACATC TATATGTCTATCTATAGATAGATACATCTATCTGTCTATCTATAGATAGA TACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(649): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	656	c.-26 others(667): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACA TCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATC TATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTA TCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGATACATC TATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGATAGA TACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PDCD6_chr5_266646_319974	318049	C C	CCCTCCCC others(649): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCA CCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGC ACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCC CCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCC CCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTT CCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTC CACCTCCCTTCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCC CATCTTTTACCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCC CCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCAC CTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACC CTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAA CCCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18983.hp2 NA18965.hp2 NA18983.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0301 a0002c0003t0001g0303 a0002c0003t0001g0301 a0002c0003t0001g0303	2	360	0.0056	656	c.35 others(667): Show c.3534_*3535insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCACCTCCTCCCCAGCCT CCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCC TCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCC CCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCT CCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTC ACCTCCCCCCACCTTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACC TCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCACCCTTA CCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCTGCATCTCCCCC AACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCC CCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCA CCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCC TCCATCTGCCCCCAACCCTGCA	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3076		chr5	TogoVar
PERM1_chr1_970198_987093	976810	G G	GCAACCCC others(649): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA20905.hp2 NA18945.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	408	0.0049	656	c.215 others(673): Show c.2150-187_2150-186insTGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGCGGGGG CAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGTTG GTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGC GGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGT GGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGGTCGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	976875	C C	CAACCCCG others(649): Show CAACCCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGC CTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCA CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	408	0.0025	656	c.215 others(673): Show c.2150-252_2150-251insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTT CCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAG TGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGC GGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGG GGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAG TGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTC GGGGGAGTGGGAGGCGGTTCCCGGGGTT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PITPNM3_chr17_6446263_6561555	6561397	T T	TCTCCACT others(649): Show TCTCCACTTCCTCCCTCCAAGTCCTCCTCCTCCTCCCCTCCTCCTCTTCC TCCTCCTCCTTCTCATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTC TTCCTTCTCCTCCTCTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTC TTCTTCCCTCTTCTTCTTCCTCCTCCTCCCCTCTTTTCCTCCTCCTCCTC TTTCTTCTCCTCTTCCTCCTCCTCCGCCCCCTCTTCCTCCTTCTCATCCT CCTTCCCTCCTCTTCCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCCCC TCTTCCTCCCCTCCTCCTCCTCTTCCTCCTCCTTCTCTTTATTCTCCCCT CCTCCTCTTCCTCCTCCTCCTTCTCATTATCCTCCTTCTCATTCTCTCCC TTCTCCTCCTCTTCCTTCTCCTCCTCTTCTCCTCCTTCTTCTCCTTTTCC TCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTTCTTC CTCCTCCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTTCCTC CTCCTCCGCCCCCCTTCCTCCTTCTCCTCATCCTCCTTCCCTCCTCTTCT CCTTTTCCCTCCTTCTCCTCCCCTCTTCCTCCTCTTCCTCCTCCTCCTCC CCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0108 a0003c0008t0002g0108	1	218	0.0046	656	c.-49 others(667): Show c.-4992_-4991insGAGGAGGGGAGGAGGAGGAGGAAGAGGAGGAAGA GGGGAGGAGAAGGAGGGAAAAGGAGAAGAGGAGGGAAGGAGGATGAGGAG AAGGAGGAAGGGGGGCGGAGGAGGAGGAAGAGGAGAAGAAAGAGGAGGAG GAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGAAGAAGAGAAGGAG GAGGAAAAGGAGAAGAAGGAGGAGGAAAAGGAGAAGAAGGAGGAGAAGAG GAGGAGAAGGAAGAGGAGGAGAAGGGAGAGAATGAGAAGGAGGATAATGA GAAGGAGGAGGAGGAAGAGGAGGAGGGGAGAATAAAGAGAAGGAGGAGGA AGAGGAGGAGGAGGGGAGGAAGAGGGGAGGAGGAGGGGAGGAGGAGGAGG AAGAGGAGGAAGAGGAGGGAAGGAGGATGAGAAGGAGGAAGAGGGGGCGG AGGAGGAGGAAGAGGAGAAGAAAGAGGAGGAGGAGGAAAAGAGGGGAGGA GGAGGAAGAAGAAGAGGGAAGAAGAGAAGGAGGAGGAAAAGGAGAAGAAG GAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGGAGAGAATGAGAAG GAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGGGGAGGAGGAGGAG GACTTGGAGGGAGGAAGTGGAG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4843		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561410	C C	CTCCTAGT others(649): Show CTCCTAGTCCTCCTCCTCCTCCCCTCCTCCTCTTCCTCCTCCTCCTTCTC ATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCT CTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTT CTTCCTCCTCCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTT CCTCCTCCTCCGCCCCCTCTTCCTCCTTCTCATCCTCCTTCCCTCCTCTT CCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCCCCTCTTCCTCCCCTCC TCCTCCTCTTCCTCCTCCTTCTCTTTATTCTCCCCTCCTCCTCTTCCTCC TCCTCCTTCTCATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTC CTTCTCCTCCTCTTCTCCTCCTTCTTCTCCTTTTCCCTCCTCCTTCTTCT CCTTTTCTCCTCCTTCTCTTCCTCTCCTCTTCTTCTTCCTCCTCCTCCCC TCCTTTTCCTCCTCCTCCTCTTCTTCTCCTCTTCCTCCTCCTCCGCCCCC CTTCCTCCTTCTCCTCATCCTCCTTCCCTCCTCTTCCTCCTTTTCCTCCT TCTCCTCCCCTCTTCCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCTTC CTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0014 a0002c0004t0014	a0002c0004t0014g0056 a0002c0004t0014g0056	1	218	0.0046	656	c.-50 others(667): Show c.-5005_-5004insAGGGGAGGAAGAGGAGGAGGGGAGGAGGAGGAGG AAGAGGAGGAAGAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGGGAA GGAGGATGAGGAGAAGGAGGAAGGGGGGCGGAGGAGGAGGAAGAGGAGAA GAAGAGGAGGAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGAG AGGAAGAGAAGGAGGAGAAAAGGAGAAGAAGGAGGAGGGAAAAGGAGAAG AAGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGGAGAGAATGAG AAGGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGGGGAGAATAAA GAGAAGGAGGAGGAAGAGGAGGAGGAGGGGAGGAAGAGGGGAGGAGGAGG GGAGGAGGAGGAGGAAGAGGAGGAAGAGGAGGGAAGGAGGATGAGAAGGA GGAAGAGGGGGCGGAGGAGGAGGAAGAGGAGAAGAAAGAGGAGGAGGAGG AAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGAAGAAGAGAAGGAGGAGG AAAAGGAGAAGAAGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGG GAGAGAATGAGAAGGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAG GGGAGGAGGAGGAGGACTAGGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4856		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561410	C C	CTCCTAGT others(649): Show CTCCTAGTCCTCCTCCTCCTCCCCTCCTCCTCTTCCTCCTCCTCCTTCTC ATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCT CTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTT CTTCCTCCTCCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTT CCTCCTCCTCCGCCCCCTTCTTCCTCCTTCTCATCCTCCTTCCCTCCTCT TCCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCCCCTCTTCCTCCCCTC CTCCTCCTCTTCCTCCTCCTTCTCTTTATTCTCCCCTCCTCCTCTTCCTC CTCCTCCTTCTCATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTT CCTTCTCCTCCTCTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTTCT CCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTTCTTCCTCCTCCTCCCCT CCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTTCCTCCTCCTCCGCCCCC CTTCCTCCTTCTCCTCATCCTCCTTCCCTCCTCTTCCTCCTTTTCCTCCT TCTCCTCCCCTCTTCCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCTTC CTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0006 a0002c0009t0006	a0002c0009t0006g0063 a0002c0009t0006g0063	1	218	0.0046	656	c.-50 others(667): Show c.-5005_-5004insAGGGGAGGAAGAGGAGGAGGGGAGGAGGAGGAGG AAGAGGAGGAAGAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGGGAA GGAGGATGAGGAGAAGGAGGAAGGGGGGCGGAGGAGGAGGAAGAGGAGAA GAAAGAGGAGGAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGA AGAAGAGAAGGAGGAGGAAAAGGAGAAGAAGGAGGAGGAAAAGGAGAAGA AGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGGAGAGAATGAGA AGGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGGGGAGAATAAAG AGAAGGAGGAGGAAGAGGAGGAGGAGGGGAGGAAGAGGGGAGGAGGAGGG GAGGAGGAGGAGGAAGAGGAGGAAGAGGAGGGAAGGAGGATGAGAAGGAG GAAGAAGGGGGCGGAGGAGGAGGAAGAGGAGAAGAAAGAGGAGGAGGAGG AAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGAAGAAGAGAAGGAGGAGG AAAAGGAGAAGAAGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGG GAGAGAATGAGAAGGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAG GGGAGGAGGAGGAGGACTAGGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4856		chr17	TogoVar
PLEKHN1_chr1_961482_980865	976747	C C	CAACCCCG others(649): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0017 a0017	a0017c0043 a0017c0043	a0017c0043t0016 a0017c0043t0016	a0017c0043t0016g0100 a0017c0043t0016g0100	1	422	0.0024	656	c.21 others(667): Show c.2172_*2173insAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTC CCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		883		chr1	TogoVar
PLEKHN1_chr1_961482_980865	976810	G G	GCAACCCC others(649): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	656	c.22 others(667): Show c.2235_*2236insCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCG CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		946		chr1	TogoVar
PLEKHN1_chr1_961482_980865	976843	C C	CAACCCCG others(649): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCA CCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCC CCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	656	c.22 others(667): Show c.2268_*2269insAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCC GGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		979		chr1	TogoVar
PLEKHN1_chr1_961482_980865	976875	C C	CAACCCCG others(649): Show CAACCCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGC CTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCA CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	422	0.0024	656	c.23 others(667): Show c.2300_*2301insAACCCCGGGAACCGCCTCCCACTCCCCCGACCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCG CCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACC AACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCC CACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1011		chr1	TogoVar
PPP2R2A_chr8_26286508_26377680	26310231	A A	AGATCGCG others(649): Show AGATCGCGCCACTGCACTCCAAGCCTGGGCAACAGGGCAAGACTCCATCT CAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCAAACTTACTTTTTTTTTT TTTTTGAGATGTAGTCCCACTCTGTTGCCCAGGTTGTAGTGCTGTGGCGC GATCTCGCCTCACTGCAACCTCTGCCTCCTAGGTTCAAGTGATTCTTCTG CCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTGACCACCACACCTGG CTAATTTTTTTTGTATGTTTAGTAGAGACGGGGCTTCATCGTGTTGGCCA GGTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCC AAAGTGTTGGGATTACAGGCATGAGCCCCTGCACCTGACGACAAACTTTC AATTTATAAAAAACACAGTGTCGGCCAGGCGCGGTGGCTCACGCCTGTAA TACCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGGAGCTTGCAGT GAGCCGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG03471.hp2 HG01243.hp2 HG02145.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0272 a0001c0001t0001g0019 a0001c0001t0001g0272	3	340	0.0088	656	c.82+ others(673): Show c.82+16495_82+16496insGCGCCACTGCACTCCAAGCCTGGGCAAC AGGGCAAGACTCCATCTCAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCA AACTTACTTTTTTTTTTTTTTTGAGATGTAGTCCCACTCTGTTGCCCAGG TTGTAGTGCTGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCTAGG TTCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTG CTGACCACCACACCTGGCTAATTTTTTTTGTATGTTTAGTAGAGACGGGG CTTCATCGTGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCC GCCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCCCTGCA CCTGACGACAAACTTTCAATTTATAAAAAACACAGTGTCGGCCAGGCGCG GTGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCAGGTGGAT CATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGT CTCTACTAAAAATACAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCT GTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGG GAGGTGGAGCTTGCAGTGAGCCGGGATC	PPP2R2A	ENSG00000221914.11	transcript	ENST00000380737.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP2R2A_chr8_26286508_26377680	26310231	A A	AGATCGCG others(649): Show AGATCGCGCCACTGCACTCCAAGCCTGGGCAACAGGGCAAGACTCCATCT CAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCAAACTTACTTTTTTTTTT TTTTTTGAGATGTAGTCCCACTCTGTTGCCCAGGTTGTAGTGCTGTGGCG CGATCTCGCCTCACTGCAACCTCTGCCTCCTAGGTTCAAGTGATTCTTCT GCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTGACCACCACACCTG GCTAATTTTTTTGTATGTTTAGTAGAGACGGGGCTTCATCGTGTTGGCCA GGTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCC AAAGTGTTGGGATTACAGGCATGAGCCCCTGCACCTGACGACAAACTTTC AATTTATAAAAAACACAGTGTCGGCCAGGCGCGGTGGCTCACGCCTGTAA TACCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGGAGCTTGCAGT GAGCCGG	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19082.hp1 HG02155.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0236 a0001c0001t0003g0241 a0001c0001t0003g0236 a0001c0001t0003g0241	2	340	0.0059	656	c.82+ others(673): Show c.82+16495_82+16496insGCGCCACTGCACTCCAAGCCTGGGCAAC AGGGCAAGACTCCATCTCAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCA AACTTACTTTTTTTTTTTTTTTTGAGATGTAGTCCCACTCTGTTGCCCAG GTTGTAGTGCTGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCTAG GTTCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGT GCTGACCACCACACCTGGCTAATTTTTTTGTATGTTTAGTAGAGACGGGG CTTCATCGTGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCC GCCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCCCTGCA CCTGACGACAAACTTTCAATTTATAAAAAACACAGTGTCGGCCAGGCGCG GTGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCAGGTGGAT CATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGT CTCTACTAAAAATACAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCT GTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGG GAGGTGGAGCTTGCAGTGAGCCGGGATC	PPP2R2A	ENSG00000221914.11	transcript	ENST00000380737.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
PWWP2B_chr10_132392200_132422859	132392570	A A	ATGGTGAT others(649): Show ATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGT GGTAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGT AGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGG TGGTGGTGATGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGT GGTAATGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATGATGGTGA TGGTGGTGGTGGTGATAATGGTGATGGTGATGATGGTGATGGTGATGATG GTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGAT GGTGATGATGGTGGTGGTGGTGATGATGGTGATGGTGGTGGTGGTGATAA TGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTG GTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGGTGGT GGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTA ATGATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	374	0.0027	656	c.-46 others(667): Show c.-4657_-4656insTGGTGATGGTGATGATGGTGGTGGTGGTGATAAT GGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTGATAAT GGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGA TGGTGATGATGGTGGTGGTGGTGATGATGGTGATGGTGGTGGTGGTGATA ATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGT GGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGGTGG TGGTGATGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGATG GTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGT AATGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATGATGGTGATGG TGGTGGTGGTGATAATGGTGATGGTGATGATGGTGATGGTGATGATGGTG ATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGT GATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGG TGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTG ATGGGGGTGGTGGTAATGATGG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4629		chr10	TogoVar
RAB11FIP3_chr16_420649_528011	504249	T T	TCCTCCTG others(649): Show TCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACC CCCTCAGCTCCTTGTGTACCCCTCACCTCCTGTACCCCCTCACCTCCTCC TGTACCCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCC CTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTG TGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTTGC CTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCC TCACCTCCTCCTGTACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGT GCACCCCTCACCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCC TCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCC TCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGTACCCCCCTCACCTCC TCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACC CCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACC TCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCA CCCCTCA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	295	0.0034	656	c.139 others(675): Show c.1395+1179_1395+1180insCACTCCCATCTCCTCCTGTACCCCCT CAGCTCCTTGTGTACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTA CCCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCA CCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCA CCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTTGCCTCC TGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCAC CTCCTCCTGTACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCTCACCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCT GTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCTCAC CTCCTCCTGTACCCGCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCT GTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCC TCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCT CCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCC TCACCTCCTGTACCCCCTCACCTCCTCCTG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(649): Show GGAGGGGAAGGCGTGGGGAGGAGGGGGCCACATGGGGAGGAGCGGGCCGC GAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCACGTGGGGAGGAGG GGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTTGGG GAGGAGGGGGCCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGGGC CGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGGGAGG AGGGGGGCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGT GGGGAGGAGGGTGCCGCGTGGGGAGGAGGGGGCGTGTGGGGAGGAGGCGC CGCGTGGGGAGGAGGGGGCCGTGAGGAGAGGAGGGGGGCCCCGTGGGGAG GAGGGGAAGGCGTGGGGAGGAGGGGGGCGCGTGGGGAGGAGGGGGCCGCG AGGGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGGG GCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGA GGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGC GAGGGGAGGAGGGGGCTGTGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGG GGGCCGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	67	0.0149	656	c.159 others(673): Show c.1590+407_1590+408insGCGGCCCCCTCCTCCCCTCGCGGCCCCC TCCTCCCCACACAGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGC GGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTC CCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACACGGCGC CTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACG CGCCCCCCTCCTCCCCACGCCTTCCCCTCCTCCCCACGGGGCCCCCCTCC TCTCCTCACGGCCCCCTCCTCCCCACGCGGCGCCTCCTCCCCACACGCCC CCTCCTCCCCACGCGGCACCCTCCTCCCCACGCGGCCCCCTCCTCCCCTC GCGGCCCCCTCCTCCCCACGCGCCCCCCTCCTCCCCACGCCTTCCCCTCC TCCCCACGGGGCCCCCTCCTCTCCTCACGGCCCCCTCCTCCCCACGCGGC TCCCTCCTCCCCTCGCGGGCCCCCTCCTCCCCAAGCCTTCCCCTCCTCCC CACGGGGCCCCCTCCTCTCCTCACAGCCCCCTCCTCCCCACGTGGCCCCC TCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCGCTCCTCCCCATGT GGCCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79555282	A A	AGTGGTGG others(649): Show AGTGGTGGTGATGGTGGTGATGATGGTGGTGGTATTGATGGAGATGATGA TGACAGTGATAATGGTGGTGGTGGTAATGGTGATTATATGTCAGTGATGG TGGTGGTGGTGGTGATGGTGATGATAGTCATGATGGTGGTGATAGTGATG GCAATGGTGATGATGGCAGTGATGGTGATTATGAGAGTAGTGATGGTGGT GATGGCGATGGTAATGGTGATAATGGCGATGATGGTGGTGATGGTGATGA TGATAGTAATGATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATA ATAGTGATAATGGTGGTGACGGCAGTGGTGGTGGTGGTAATGGTGATCAT GTCAGTGATGGTGGTGGTGGTGATGATAGTAATGATGGTGGTGATGGTGG TGGCAATGGTGATGATGGCAGTGATGGCGGTGAGGGTGATTATGATAGTA GTGATGGTGATGGCAATGGTAATGGTGATAATGGCGATGATGGTGGTGAT GGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGATGA CAGTGGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTGGTGGTGGTG ATGGTGGTGATGATGGTAGTTGTGGTGGTGGTGATGGTGGTGATGATGGT AGTTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	154	0.0065	656	c.-32 others(677): Show c.-320+55543_-320+55544insCACAACTACCATCATCACCACCAT CACCACCACCACAACTACCATCATCACCACCATCACCACCACCACAACTA CCATCATCACCACCATCACCACCACCACCACTGTCATCACCACCATTATC ACTATTATCACCACCGTTACCACCACCACTGCCATCACCACCATCATCGC CATTATCACCATTACCATTGCCATCACCATCACTACTATCATAATCACCC TCACCGCCATCACTGCCATCATCACCATTGCCACCACCATCACCACCATC ATTACTATCATCACCACCACCACCATCACTGACATGATCACCATTACCAC CACCACCACTGCCGTCACCACCATTATCACTATTATCACCACCGTTACCA CCACCACTGCCATCACCACCATCATTACTATCATCATCACCATCACCACC ATCATCGCCATTATCACCATTACCATCGCCATCACCACCATCACTACTCT CATAATCACCATCACTGCCATCATCACCATTGCCATCACTATCACCACCA TCATGACTATCATCACCATCACCACCACCACCACCATCACTGACATATAA TCACCATTACCACCACCACCATTATCACTGTCATCATCATCTCCATCAAT ACCACCACCATCATCACCACCATCACCACCAC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RGPD3_chr2_106398406_106473413	106467439	G G	GGGTCGAG others(649): Show GGGTCGAGGCCGCCGCCTCCACAGAGCGCGCCAGGGAGCAGCGCCCGTCG GGAGCCATGACGCCTGAGCCATCAAGGCCCCCGCAGGGCCAGGTCGAGGC TGCCGCCGCCTGGCCAGGTCGAGGCCGCCGCCGCCGCCTCAACAGAGCGC GCCAGGTAACAGCGCCGGTCGGGAGCCATGACGCCTGAGCCATCGAGGCC GCCGCAGGGCCAGGTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAGC AGCGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGGC CAGGTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTC GGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCCAGGTCGAGG CCGCCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATG ACGCCTGAGCCATCGAGGCCGCCGCCGGGCCGGGTCGAGGCCGCCGCCTC AACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGC CATCGAGGCCGCCGCCGGGTCGAGGCCGCCGCCTCAACAGAGCATGCCAG GGAGCAGCGCCCGTCGGGAGCCATGATGCCTGAGCCATCAAGGCAGCCGC CGGGCCA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0018 a0005c0005t0018	a0005c0005t0018g0231 a0005c0005t0018g0231	1	382	0.0026	656	c.72+ others(669): Show c.72+777_72+778insTGGCCCGGCGGCTGCCTTGATGGCTCAGGCAT CATGGCTCCCGACGGGCGCTGCTCCCTGGCATGCTCTGTTGAGGCGGCGG CCTCGACCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGG GCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCG GCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCC CTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCTGGCCCGGCGGCGGCCT CGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCT CTGTTGAGGCGCCGGCCTCGACCTGGCCCTGCGGCGGCCTCGATGGCTCA GGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGC GCCGGCCTCGACCTGGCCCTGCGGCGGCCTCGATGGCTCAGGCGTCATGG CTCCCGACCGGCGCTGTTACCTGGCGCGCTCTGTTGAGGCGGCGGCGGCG GCCTCGACCTGGCCAGGCGGCGGCAGCCTCGACCTGGCCCTGCGGGGGCC TTGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGC TCTGTGGAGGCGGCGGCCTCGACC	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
SCARB1_chr12_124771856_124868864	124839644	T T	TCCCAACA others(649): Show TCCCAACAGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAG CACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGG GCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATT TCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCAC CCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCC AACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACA CATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCC CGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTC CGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTC ACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACG GCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATG GGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGAT TTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCA CCCTCAC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0280 a0001c0003t0002g0280	1	356	0.0028	656	c.127 others(675): Show c.127-21938_127-21937insGTGAGGGTGCGGAGAAATCGGGGCCC ATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCC GTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTG AGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGG AGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGG GGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGT GTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTG GGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGG TGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAA ATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCC CATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGC CGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGT GAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCG GAGAAATCGGGGCCCATGTGTGCTGTTGGG	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(649): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACA TGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCG ATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCG CACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCAC CCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGC ACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGG CCCCGATTTCTCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTT CTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACA CTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCA ACGGCAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	356	0.0028	656	c.127 others(675): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGC GGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATC GGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCAT GTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGT TGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAG GGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAG AAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGG CCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGT GCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGG GTGAGGGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)