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
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(510): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATACATGTATTACATATATGTAATACATATATAACATGTATTACATAT ATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	517	c.70 others(528): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATACATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(510): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATGTATTACATAT ATGTATTACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	400	0.0025	517	c.70 others(528): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTATTACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(510): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATGTATTACATAT ATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	400	0.0025	517	c.70 others(528): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721656	A A	ATATATGT others(510): Show ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATTACGTATATGTAATACA CATATAACATATATTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	517	c.70 others(528): Show c.7094_*7095insTATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATTA CGTATATGTAATACACATATAACATATATTACG	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3176		chr20	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(510): Show GCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCTGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	376	0.0027	517	c.15 others(528): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PLEKHA4_chr19_48832097_48873617	48834491	G G	GGGCCTGG others(510): Show GGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCT GGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAG GAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGG CCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGG GTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGA AGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGT CTGAGGGAGGAGGTGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGG GGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGG ACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTG AGGGAGGAAGGGCTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0026 a0002c0002t0002g0026	1	300	0.0033	517	c.27 others(528): Show c.2797_*2798insTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCA GGCCCCCAGGCCCTACTTCCTCAGACCCAGGAGTCCAGACCTCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACC CAGGAGTCCAGGCCCCCAGCACCTCCTCCCTCAGACCCAGGAGTCCAGGC CCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCC TCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCA GGAGTCCAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGGCTC CCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTT CCTCGGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGG AGTCCAGGCCCCCAGGCCCTACTTCCTCAGACCCAGGAGTCCAGACCTCA GCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCC	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2605		chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(510): Show GTGATGATGGTGATGGTGATAATGGTGATGGTGATGATGGTGATGTGATA ATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGAT GGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGATGGTGA TGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGG TGATGATGGTGATGGGATGGTGATGATGGTGGTGGATAAGGATGGTGAAT GGTGATGTGATAATGGTGATGTGATGGTAGTGGATGGGGGTGGTGGTAAT GTGATGATGGTGATGGGTGATGATGGTGGTGGTGATAATGGTGATGGTGT GGTGGGTAATGGTGATGGTGATGAGTGATGGATGTGATGGTGATGGTAGG TGTATGGGTGGTGATGGTGGATGGTGAGTATGGTGAGTGGTGATGAGTGG TGGTGGTGGTGTATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGT GATGGTGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0101	1	374	0.0027	517	c.-46 others(528): Show c.-4663_-4662insTGATGATGGTGATGGTGATAATGGTGATGGTGAT GATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGT GGTAATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGA TGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGG GGGTGGTGGTAATGGTGATGATGGTGATGGGATGGTGATGATGGTGGTGG ATAAGGATGGTGAATGGTGATGTGATAATGGTGATGTGATGGTAGTGGAT GGGGGTGGTGGTAATGTGATGATGGTGATGGGTGATGATGGTGGTGGTGA TAATGGTGATGGTGTGGTGGGTAATGGTGATGGTGATGAGTGATGGATGT GATGGTGATGGTAGGTGTATGGGTGGTGATGGTGGATGGTGAGTATGGTG AGTGGTGATGAGTGGTGGTGGTGGTGTATGGTGATGGTGATGATGGTGAT GGTGATGGTAGTGGTGATGGTGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831060	T T	TCCCCTCC others(510): Show TCCCCTCCCCCTTCCCTCCCTTCCCTCCCCTCCTTCCCCTCCCCTTCCCT CCCTTCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCC CCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCCTCTCCTTCCTTCC CCTCCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTC CCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTT TTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCT ACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCTCCCCTCCCCTC CCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTC CCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCC CTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCC CTCCCCTCCCTTCCCATC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0069 a0001c0001t0053g0069	1	218	0.0046	517	c.80+ others(534): Show c.80+30515_80+30516insCCCCCTTCCCTCCCTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCTCCCCTCCCTTCCCCTCCCCTCCTCT CCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCC CCCTCTCCTTCCTTCCCCTCCCCCTCCCCTTCCCTCCCTTTCCCTCCCCT CCCTTCCCCTCCCCTCCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCC TCCCTCCCCTCCCCTTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCC TCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCC TTCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGT CCCCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCT CTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCC CTTTCCCTCCCCTCCCCTCCCCTCCCTTCCCATCCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RASA3_chr13_113972783_114137623	113974168	T T	TGCAGGCC others(510): Show TGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGC AGGCCGGGGTTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGG CCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCG GGGTTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGG TTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTG GGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGG CGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGG GTTCTGCGTCTTCCCTTCTTCTTTCCTGCAGGCCGGGGCTGGGGCGGGTT CTGCGTCTTCCCTTCTTCTTTCCTGCAGGCCGGGGCTGGGGCGGGTTCTG CGTCTTCCCTTCTTCTTTCCTGCAGGCCGGGGCTGGGGCGGGTTCTGCGT CTTCCCTTCTTCTTTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	1	67	0.0149	517	c.51 others(528): Show c.5178_*5179insGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCC AGCCCCGGCCTGCAGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAGC CCCGGCCTGCAGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCC GGCCTGCAGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGGC CTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGGCCTG CGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGGCCTGCGG GAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGGCCTGCGGGAA AGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGGCCTGCGGGAAAGA AGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGGCCTGCGGGAAAGAAGA AGGGAAGACGCAGAACCCGCCCCAACCCCGGCCTGCGGGAAAGAAGAAGG GAAGACGCAGAACCCGCCCCAGCCCCGGCCTGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding		3614		chr13	TogoVar
RIMBP2_chr12_130391133_130721299	130641292	C C	CATGGTGA others(510): Show CATGGTGACTGCCGGACACTCAGCCCAGCATCACGGGCTGGATTTAGGAT GGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGT GACTGCCGGACACTCGGCCCGGCTTCACGGGCTGGATTTAGGATGGTGAC TGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGACTGC CGGACACTCGGCCCAGCATCACGGGCTGGATTTAGGATGGTGACTGCCGG ACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGACTGCCGGACA CTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTC GGCCCGGCATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGC CCGGCATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCG GCATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCA TCACGGGCTGGATTTAGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0089 a0001c0019t0001g0089	1	180	0.0056	517	c.-35 others(538): Show c.-351-12837_-351-12836insCCTAAATCCAGCCCGTGATGCCGG GCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCC GAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAG TGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGT CCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCG GCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCA GTCACCATCCTAAATCCAGCCCGTGATGCTGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACC ATCCTAAATCCAGCCCGTGAAGCCGGGCCGAGTGTCCGGCAGTCACCATC CTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACCATCCTA AATCCAGCCCGTGATGCTGGGCTGAGTGTCCGGCAGTCACCAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641368	T T	TTCACGGG others(510): Show TTCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATC ATGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACG GGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCTTCACGGGC TGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGG ATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATT TAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAG GATGGTGACTGCCGGACACTCGGCCCGGCTTCACGGGCTGGATTTAGGAT GGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGT GACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGAC TGCCGGACACTCGGCCCGGCTTCACGGGCTGGATTTAGGATGGTGACTGC CGGACACTCGGCCCGGCA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0121 a0001c0004t0001g0121	1	180	0.0056	517	c.-35 others(538): Show c.-351-12913_-351-12912insTGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGAAGCCGGGCCGAGTGTCCGGCAGTCACC ATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACCATC CTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACCATCCTA AATCCAGCCCGTGAAGCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAAT CCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAATCCA GCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCC CGTGATGCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGT GAAGCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGAT GCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCATGATGCC GGGCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
SKI_chr1_2223319_2315213	2281178	G G	GGACAGGC others(510): Show GGACAGGCGGCGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG GCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGG CGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGAT CTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGA GAGCGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA CGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGA GAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACA GGTGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGTG GCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGAGA TCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAG AGAGAGGACGCCTGAGAA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0048 a0001c0001t0010g0048	1	330	0.0030	517	c.970 others(536): Show c.970-21791_970-21790insCGGCGGAGATCTTCAGAGAGAGAGAT GCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAG AGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAG GCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGG CGGAGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGA GAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGA CGCCTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGCGGACGCCCGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACA GGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTG GTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC25A32_chr8_103393638_103420107	103407948	T T	TATATATA others(510): Show TATATATATAAATATATATATATTACATATATATATAAATATATATATAT TACATATATATATAAATATATATATATTACATATATATATAAATATATAT ATATTACATATATATATAAATATATATATATTACATATATATATAAATAT ATATATATTACATATATATATAAATATATATATATTACATATATATATAA ATATATATATATTACATATATATATAAATATATATCTTACATATATATAA ATATATATATCTTACATATATATAAATATATATATCTTACATATATATAT AAATATATATATATTACATATATATAAATATATATATATTACATATATAT AAAATATATATATTACATATATATATAAATATATATATATTACATATATA TAAATATATATATATTACATATATATAAATATATATATATTACATATATA TAAATATATATATATTACATATATATATAAATATATATATATTACATATA TATAAATATATATATTAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	356	0.0028	517	c.155 others(532): Show c.155-165_155-164insGTAATATATATATTTATATATATGTAATAT ATATATATTTATATATATATGTAATATATATATATTTATATATATGTAAT ATATATATATTTATATATATGTAATATATATATATTTATATATATGTAAT ATATATATATTTATATATATATGTAATATATATATTTTATATATATGTAA TATATATATATTTATATATATGTAATATATATATATTTATATATATATGT AAGATATATATATTTATATATATGTAAGATATATATATTTATATATATGT AAGATATATATTTATATATATATGTAATATATATATATTTATATATATAT GTAATATATATATATTTATATATATATGTAATATATATATATTTATATAT ATATGTAATATATATATATTTATATATATATGTAATATATATATATTTAT ATATATATGTAATATATATATATTTATATATATATGTAATATATATATAT TTATATATATATGTAATATATATATATTTATATATAT	SLC25A32	ENSG00000164933.13	transcript	ENST00000297578.9	protein_coding	1/6			chr8	TogoVar
SLC6A3_chr5_1387794_1450440	1422744	C C	CCACAGTG others(510): Show CCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCT GCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCTGCCCACAGTGCTGC TCACGGTGCTGGGTACCCACCGCTGCCCACAGTGCTGCCCACGGTGCTGG GTGCCCACCCGCTGCCCA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	373	0.0027	517	c.654 others(532): Show c.654-731_654-730insTGGGCAGCGGGTGGGCACCCAGCACCGTGG GCAGCACTGTGGGCAGCGGTGGGTACCCAGCACCGTGAGCAGCACTGTGG GCAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTGGGCAGCGGTGGGC ACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGT GGGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCGTGGGCAGCACTGG GCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGC ACCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGG GCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCAC CCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCTTGG GCAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGG GCAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SNX9_chr6_157818246_157950077	157827319	A A	AACATATA others(510): Show AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAAATATATTATAGTTTATATAATATATAAAATAT ATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATA AAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT ACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATACACATATATTAT AGTTTATATAATATATAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	302	0.0033	517	c.12+ others(532): Show c.12+3990_12+3991insATATATTATAGTTTATATAATATATAAAAT ATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATA TAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAAA CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(510): Show TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATAT ATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATAT ATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTA TATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATT ATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAA TATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAA TATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGT TTATATAATATATAAATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02129.hp1 NA18941.hp2 HG00621.hp1 HG02129.hp1 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017	3	302	0.0099	517	c.12+ others(532): Show c.12+4102_12+4103insGTTTATATAATATATAAATATATATTATAG TTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATA TATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATA TAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTAT ATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATTA TAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAAT ATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAAT ATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTT TATATAATATATAAATATATATTATAGTTTATATAATATATAAATATATA TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(510): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAAGCGGGAACG GGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGG AGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGG GGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAG GGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0102 a0001c0001t0013g0102	1	251	0.0040	517	c.34 others(526): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCATCTCCCCTCCC CCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCGTTCCCGCTTCCCCCT CCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(510): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAG GGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGG AGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGGAGGGGGG AGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGG GGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAG GGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	251	0.0040	517	c.34 others(526): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCCTTCCC CCTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCC CCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCT CCCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCC GTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCCTCCC CCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCT CCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(510): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAAGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACG GGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGG GAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGAGGGGA GGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGGAGGGGGGAG GGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGGAGGGGGGAGGG GGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAG GGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0087 a0001c0001t0035g0087	1	251	0.0040	517	c.34 others(526): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCCTCCCCCAT CTCCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCCTTC CCCCTCCCCCCTCCCCCTTCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCGTTCCCGCTTCCCCC TCCCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCC CGTTCCCGCTTCCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTC CCCCTCCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
STAB2_chr12_103582273_103771719	103768582	G G	GGAGGGAG others(510): Show GGAGGGAGAGGGAAAGGGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGA GGGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGG GGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGG GACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGG GGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAG GGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGGGA GAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGG GAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGG GATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGA AGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGA GGGAAAGGGAGTGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0002 a0004c0016t0002	a0004c0016t0002g0092 a0004c0016t0002g0092	1	256	0.0039	517	c.22 others(528): Show c.2246_*2247insGAGGGAGAGGGAAAGGGGGAGGGAGGGGGAGAGG GGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGA GAGGGAGGGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAG AGAGGGAGGGAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGG AGAGGGAGGGGAGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGA GGGAGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGG AGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGG AGGGAGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGG AGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAG GGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1864		chr12	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(510): Show TATTATATATTATATAACTATATATTATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATAACTATATATTATATATAATATATATATTAT ATAACTATATATTATATATAATATATATATTATATATTATATAACTATAT ATTATATATAATATATATATTATATATTATATAACTATATATTATATATA ATATATATATTATATATTATATAACTATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATA ATATAACTATATATTATATATAATATATAATTATATATTATATAACTATA TATTATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0268 a0001c0001t0006g0268	1	268	0.0037	517	c.73 others(528): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATAACTATATATTATATA TAATATATATATTATATAACTATATATTATATATAATATATATATTATAT ATTATATAACTATATATTATATATAATATATATATTATATATTATATAAC TATATATTATATATAATATATATATTATATATTATATAACTATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATAATATATATATTATATATTATATAACTATATATTATATATAATA TATATATTATATATAATATAACTATATATTATATATAATATATAATTATA TATTATATAACTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(510): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGATCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAACACAAAAAATGAGCCTGGCATGGTGGCAGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTGGGC GACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATAAAT CAAAAGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0322 a0004c0004t0003g0322	1	398	0.0025	517	c.43 others(528): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTTTTTTTTTT TTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCGCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCA TGCCAGGCTCATTTTTTGTGTTTTTTTTTGTTTCTTTGTTTGTTTGGTTT TTTGTTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAG TCCCACATAATAACTGTCTGGATCCCGTCTCTACTAAAAATACAAAAAAT TAGCCAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTG AGGCAGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
SYTL3_chr6_158645054_158769871	158701247	A A	AAGGGCTG others(510): Show AAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTG AGCTGGGGTGTACATGAAGGACTGTCTGGGGGGAGGAGCCGTGGGAAGAG GGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGG GTGTAGATGAAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGG AGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGAT GAAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGT GAGCTGGGGTGTAGATGAAGGACTGTCTGGGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGG GAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGAT GAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGGGGAGGAGCC GTGGGAAGAGGGTCATGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0202 a0003c0004t0001g0202	1	292	0.0034	517	c.395 others(534): Show c.395-5980_395-5979insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGG GAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGAT GAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGGGGAGGAGCC GTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGT GTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGGGGAGGAGCCGTGGGAAG AGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGACTGTCTGGGG GGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTACA TGAAGGACTGTCTGGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGT GTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGG CTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TCF3_chr19_1604292_1657615	1628937	C C	CAGGGGGT others(510): Show CAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGTGAGGC GGGAAAGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACACCAGA GCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGA GGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACAGGGGGTGATGCGGGAAGGGGACAGCAGAGCTCACGGGGTG AGGCGGGAAGGGGACAGTAGAGCTCACAGGGGGTGAGGCGGGAAGGGGAC AGTAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGGG GGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGG GGACAGCAGAGCTCACAG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0120 a0003c0006t0002g0120	1	352	0.0028	517	c.299 others(534): Show c.299-1512_299-1511insCTGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGC TCTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTACTGTCCCCTTCC CGCCTCACCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCGTGA GCTCTGCTGTCCCCTTCCCGCATCACCCCCTGTGAGCTCTGCTGTCCCCT TCCCGCCTCACCCCGTGAGTTCTGCTGTCCCTTTCCCGCCTCACCCCCTG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGGTGTCC CCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCTTTCCCGCCTCACCCC TGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGT CCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCA CCCCGTGAGCTCTGCTGTCCCCTTTCCGCCTCACCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TECTA_chr11_121096243_121196490	121185620	C C	CAGATGTT others(510): Show CAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCT TAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGG GAAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGTTGAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTG AATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATG AGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAAT GAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAGTGCTTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0146 a0001c0003t0002g0146	1	348	0.0029	517	c.600 others(536): Show c.6000-2170_6000-2169insGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAA AGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATG CTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTA GGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT GAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAA TGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGAA GATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TGIF2LX_chrX_89916908_89927883	89920633	A A	ACCTGTAA others(510): Show ACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTGGAGG TCAGGAGTCCGAGACCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAA ATACAAAAATTAGCCGGGTGTGGGGGTGCACGTCTGTAATCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTTGAGGTTGCA GTGAGCCGAGATTGCGCCACTACTGCACTCCAGCCTGGGTGACAGAGCGA GACTTCATCTCAAAAAATAAAAAATTAAAAAAATTTAAAAATATATTTAA ATAAACTGTCTGTGATGGCCATTATTTCTTGAATTCTATCTTATTCCACT TATTCCACATTACTAAAAGATCCCTAAATTTCTGACTGAAGTTTAAAGAG AAACATCACAACTAGATATCAGAGTCCAAGGAAGAGACACAAAGACCTCA GTGGTACTGACAGGCAATAGCAAAGTCATTCAAAAGACAAAGATTTTGGC TGGGTGCGGTGGCTCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00609.hp1 others(30): Show HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00735.hp2 HG01346.hp2 HG01975.hp2 HG01981.hp1 HG02056.hp1 HG02109.hp1 HG02135.hp1 HG02148.hp1 HG03486.hp1 HG06807.hp1 NA18939.hp1 NA18957.hp1 NA18966.hp1 NA18975.hp1 NA18984.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp2 NA19043.hp1 NA19054.hp1 NA19064.hp2 NA19067.hp1 NA19077.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	33	323	0.1022	517	c.-13 others(528): Show c.-1357_-1356insCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGG GTGGATCACTGGAGGTCAGGAGTCCGAGACCTGGCAAACATGGTGAAACC CTGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGGGGTGCACGTCT GTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGG GAGGTTGAGGTTGCAGTGAGCCGAGATTGCGCCACTACTGCACTCCAGCC TGGGTGACAGAGCGAGACTTCATCTCAAAAAATAAAAAATTAAAAAAATT TAAAAATATATTTAAATAAACTGTCTGTGATGGCCATTATTTCTTGAATT CTATCTTATTCCACTTATTCCACATTACTAAAAGATCCCTAAATTTCTGA CTGAAGTTTAAAGAGAAACATCACAACTAGATATCAGAGTCCAAGGAAGA GACACAAAGACCTCAGTGGTACTGACAGGCAATAGCAAAGTCATTCAAAA GACAAAGATTTTGGCTGGGTGCGGTGGCTCACG	TGIF2LX	ENSG00000153779.11	transcript	ENST00000283891.6	protein_coding		1274		chrX	TogoVar
TGIF2LX_chrX_89916908_89927883	89920968	C C	CTATCTTA others(510): Show CTATCTTATTCCACTTATTCCACATTACTAAAAGATCCCTAAATTTCTGA CTGAAGTTTAAAGAGAAACATCACAACTAGATATCAGAGTCCAAGGAAGA GACACAAAGACCTCAGTGGTACTGACAGGCAATAGCAAAGTCATTCAAAA GACAAAGATTTTGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCTGAGGTGGGTGGATCACTGGAGGTCAGGAGTCCGAGACCTG GCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGG TGTGGGGGTGCACGTCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATCACTTGAACCTGGGAGGTTGAGGTTGCAGTGAGCCGAGATTGCGCC ACTACTGCACTCCAGCCTGGGTGACAGAGCGAGACTTCATCTCAAAAAAT AAAAAATTAAAAAAATTTAAAAATATATTTAAATAAACTGTCTGTGATGG CCATTATTTCTTGAATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02257.hp1 others(7): Show HG01109.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02647.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03130.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	10	323	0.0310	517	c.-10 others(528): Show c.-1022_-1021insTATCTTATTCCACTTATTCCACATTACTAAAAGA TCCCTAAATTTCTGACTGAAGTTTAAAGAGAAACATCACAACTAGATATC AGAGTCCAAGGAAGAGACACAAAGACCTCAGTGGTACTGACAGGCAATAG CAAAGTCATTCAAAAGACAAAGATTTTGGCTGGGTGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTGGAGGTCA GGAGTCCGAGACCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATA CAAAAATTAGCCGGGTGTGGGGGTGCACGTCTGTAATCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTTGAGGTTGCAGTG AGCCGAGATTGCGCCACTACTGCACTCCAGCCTGGGTGACAGAGCGAGAC TTCATCTCAAAAAATAAAAAATTAAAAAAATTTAAAAATATATTTAAATA AACTGTCTGTGATGGCCATTATTTCTTGAATTA	TGIF2LX	ENSG00000153779.11	transcript	ENST00000283891.6	protein_coding		939		chrX	TogoVar
THBS2_chr6_169210785_169258846	169242951	C C	CCCACCGC others(510): Show CCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTC CCACCACTCCCACCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTC CCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTCC CACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCC CACATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCCC ACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCA CCTTCCCACCTTCCCACCTTCCTACCGCTCCCACCTTCCCACCTTCCCAC ATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACA TTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACTGCTCCCACCT TCCCACCTTCCCACCACTCCTACCTTCCTACCTTCCCACCGCTCCCACAT TCTCACCTTCCCACCTTT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	396	0.0025	517	c.695 others(532): Show c.695-994_695-993insAAAGGTGGGAAGGTGAGAATGTGGGAGCGG TGGGAAGGTAGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGGAGCAG TGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTG GGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGG GAAGGTGGGAGCGGTAGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGG AAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGA GTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAA GGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAA GATGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAG GTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAG ATGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(510): Show ATATTATATATACATTATATATACATTATATATATACATTATATATACAT TATATATATTATACATTATATATACATTATATATATTATATATTATATAT ACATTATATATATTATATATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATATTATATATTATATATACATTATATATATTATATATTATATATACA TTATATATATTATATATTATATATACATTATATATATTATATATTATATA TACATTATATATATTATATATTATATATACATTATATATATTATATATTA TATATACATTATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA19063.hp2 NA18959.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0026 a0001c0001t0003g0027 a0001c0001t0001g0026 a0001c0001t0003g0027	2	224	0.0089	517	c.102 others(536): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATATATAATATATATAATGTATATATAATATA TAATATATATAATGTATATATAATATATAATATATATAATGTATATATAA TATATAATATATATAATGTATATATAATGTATAATATATATAATGTATAT ATAATGTATATATATAATGTATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(510): Show ATATTATATATACATTATATATATTATATATATATACATTATATATACAT TATATATATTATACATTATATATACATTATATATATTATACATTATATAT ACATTATATATATTATACATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATATTATATATTATATATACATTATATATATTATATATTATATATACA TTATATATATTATATATTATATATACATTATATATATTATATATTATATA TACATTATATATATTATATATTATATATACATTATATATATTATATATTA TATATACATTATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0165 a0001c0001t0004g0165	1	224	0.0045	517	c.102 others(536): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATATATAATATATATAATGTATATATAATATA TAATATATATAATGTATATATAATGTATAATATATATAATGTATATATAA TGTATAATATATATAATGTATATATAATGTATAATATATATAATGTATAT ATAATGTATATATATATAATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930923	C C	CAGGGGTT others(510): Show CAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAG GGAGGCCGGGGTTAGGGAGACCAGGGGTTAGGGAGGCCAGGGTAGGGAGG CTGGGGGTTAGGAAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCA GGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGT TAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGG GAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGG GTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAAGGAGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0170 a0003c0003t0001g0170	1	466	0.0022	517	c.46 others(528): Show c.4667_*4668insAGCCTCCTTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCCTCCCT AACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACC CCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCC TTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAA CCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTGACCCT TGGTCTCCCTAACCCCAGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCC TCCCTAACCCCTGGTCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCCAACCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4446		chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507456	A A	ATATGTAT others(510): Show ATATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATA TATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTATA CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATAATGTATATATACATGTATTATACATACGTAAATGTATAATGTATA TATACATTATACATACGTAAATGTATAATGTATATATACATTATACATAC GTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTA TATATACATTATACATACGTAAATGTATAATGTATATATACATTATACAT ACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATG TATATATACATTATACATACGTAAATGTATAATGTATATATACATTATAC ATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATTA TACATAAATGTATATATG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0234 a0001c0001t0009g0234	1	388	0.0026	517	c.-23 others(534): Show c.-23+2591_-23+2592insCATATATACATTTATGTATAATACATTT ACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTA TATATACATTATACATTTACGTATGTATAATGTATATATACATTATACAT TTACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATG TATATATACATTATACATTTACGTATGTATAATGTATATATACATTATAC ATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAA TGTATATATACATTATACATTTACGTATGTATAATGTATATATACATTAT ACATTTACGTATGTATAATACATGTATATATACATTATACATTTACGTAT GTATAATACATGTATATATACATATATACATTTACGTATGTATAATACAT GTATATATACATATATACATTTACGTATGTATAATACATATATATACATA TATACATTTACGTATGTATAATACATGTATATATACATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(510): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTACCC CCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCT TCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCC CCCTCCTCCCTTCCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTT ATCCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCC TTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCT CCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0059 a0002c0003t0002g0059	1	334	0.0030	517	c.657 others(532): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTACCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCT CCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCCTTCCCCCCTCCTCCCTT CCCCCTTTCTCCCTTATCCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
VCX3B_chrX_8459830_8471510	8466605	G G	GGGGGGGG others(510): Show GGGGGGGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGG AGGGAGGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0007 a0009c0009t0007	a0009c0009t0007g0008 a0009c0009t0007g0008	1	271	0.0037	517	c.22 others(526): Show c.222_*223insGGGGGGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAG GTGGTGTGTGGGGAGGGAGGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		96		chrX	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(510): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCC CCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCC CTCCCCTCCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCC CTCCCCCTCCTCTCCCCCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCCTCCCCCT CCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTC CCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0017 a0017	a0017c0030 a0017c0030	a0017c0030t0003 a0017c0030t0003	a0017c0030t0003g0163 a0017c0030t0003g0163	1	246	0.0041	517	c.53- others(530): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTC CTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCC CCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCT CTCCCCCTCCCCCTCCTCTCCCCCCTCTCCCCCTCCCCCTCCTCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCCT CCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCC CCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(510): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCC CCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTC CCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01952.hp1 HG01952.hp2 others(7): Show HG00597.hp2 HG01952.hp1 HG01952.hp2 HG02083.hp1 HG02300.hp1 HG03239.hp2 HG03688.hp2 NA18990.hp2 NA19003.hp1 NA19003.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0032 a0002c0002t0033 a0005c0005t0001	a0001c0001t0001g0230 a0002c0002t0001g0086 a0002c0002t0001g0217 others(7): Show a0001c0001t0001g0230 a0002c0002t0001g0086 a0002c0002t0001g0217 a0002c0002t0001g0219 a0002c0002t0002g0218 a0002c0002t0002g0221 a0002c0002t0002g0227 a0002c0002t0032g0208 a0002c0002t0033g0220 a0005c0005t0001g0226	10	246	0.0407	517	c.53- others(530): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCC CCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCC CCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(510): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTTTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCC CCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTC CCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0202 a0002c0002t0009g0202	1	246	0.0041	517	c.53- others(530): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTTTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCC CCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCC CCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(510): Show TCCTCTCCCCTCCCCCTCCCCCTCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTC TCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCC TCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCC TCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCTCCTCCCCCTCCCCTC CCCCTCTCCCCTCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCC CCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTC CCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0203 a0005c0005t0003g0203	1	246	0.0041	517	c.53- others(530): Show c.53-442_53-441insCCCCTCCCCCTCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCTC CTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCC TCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCC CCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCC CTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCTCCTCCCCCT CCCCTCCCCCTCTCCCCTCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCC CCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCC CCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR87_chr19_37879823_37911594	37881089	A A	ATATAATA others(510): Show ATATAATATATATATATTATATATATAATATATATATATTATATATATAT ATATAATATATATAATATATATATAATATATATATATTATATATATTATA TATATTATATATATTATATATATATTATATATATATTATATATATATAAT ATATATAATATATATATAATATATATTATATATATAATATATATATATTA TATATATAATATATATATTTAATATATATATTATATATAATATATATATT ATATATATAATATATATATTTAATATATATTATATATAATATATATATTA TATATATAATATATATTTAATATATATATTATATATATAATATATATATT ATATATATATAATATATATATTTAATATATATAATATATATATAATATAT ATTATATATATAATATATATATTTAATATATATTATATATATAATATATA TATTATATATATAATATATATATAATATATATATTATATATATAATATAT ATATTATATATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0161 a0003c0009t0001g0161	1	330	0.0030	517	c.38 others(528): Show c.3842_*3843insATAATATATATATAATATATATATTATATATATA ATATATATATTATATATATATTATATATATAATATATATATTATATATAT AATATATATTAAATATATATATTATATATATAATATATATTATATATATA TTATATATATTAAATATATATATTATATATATATAATATATATATTATAT ATATAATATATATATTAAATATATATTATATATATAATATATATATTATA TATAATATATATTAAATATATATATTATATATATAATATATATATTATAT ATAATATATATATTAAATATATATATTATATATATAATATATATATATTA TATATATAATATATATTATATATATATTATATATATTATATATATATAAT ATATATATAATATATATATAATATATATAATATATATAATATATATAATA TATATATATTATATATATATTATATATATTATATATATATATATAATATA TATATATTATATATATAATATATATATATTATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3733		chr19	TogoVar
YBEY_chr21_46281342_46302751	46292540	G G	GAGTGGAG others(510): Show GAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGT TAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAG TGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGA GTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0209	1	404	0.0025	517	c.339 others(534): Show c.339+1083_339+1084insAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCA GCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGC CACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCA CACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292548	A A	ACAGCCAC others(510): Show ACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTCAGCCTG ACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCA TGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCA CACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	404	0.0025	517	c.339 others(534): Show c.339+1093_339+1094insACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTCAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCT TGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAA ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292957	C C	CGGTTAGC others(510): Show CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGAC TCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAA ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTC AGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTC TAGATTAAATTCCTCCTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	404	0.0025	517	c.339 others(534): Show c.339+1527_339+1528insAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC ATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATT CCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293748	G G	AACTCTAG others(510): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAATCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGT GGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGC CTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGA GTCAGCCACGCAAGTTAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03209.hp2 HG02559.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0133 a0001c0001t0001g0134	2	404	0.0050	517	c.339 others(534): Show c.339+2285_339+2286insAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAATCAGCCACACAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG GGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAG ATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGA CAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
ZFP42_chr4_187990771_188010046	187992046	G G	GGGGAGAG others(510): Show GGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGG AGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAG GGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAG ACCGTGGGGAGAGGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACC GTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAG GGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAG AGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGG AGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGAC CGTGGGGAGAGGGAGAGTGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAC CGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAG ACCGTGGGGAGAGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	448	0.0022	517	c.-41 others(528): Show c.-4133_-4132insGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAG ACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGA GAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGG GAGAGGGAGAGGGAGACCGTGGGGAGAGGGGAGACCGTGGGGAGAGGGAG AGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGG AGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGG GAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGA GGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGA GAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGTGGGGAGAGGGAGAGGGA GAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGG GAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGA	ZFP42	ENSG00000179059.10	transcript	ENST00000326866.5	protein_coding		3724		chr4	TogoVar
ZNF365_chr10_62369369_62407450	62370800	C C	CATCATAT others(510): Show CATCATATATGATATATACATCATATATCACACATATGATATATACATCA TATATCACACATATGATATATACATCATATATCACACATATGATATATAC ATCATATATCACACATATGATATACATCATATATCACACATATGATATAC ATCATATATCACACATATGATATACATCATATATCACACATATGATATAC ATCATATATCACACATATGATATACATCATATATCACACATATGATATAC ATCATATATCACACATATGATATATATCATATATCACACATATGATATAT ATCATATATCACACATATGATATATATCATACATATCACATATATCATAT ATATCATACATATCACATATATCATATATATCATACATATCACATATATC ATATATATCATATATATCACATATATGATATATATCATATATATCACATA TATCATATATATCATATATATCACATATATGATATATATATCATATATAT CACATATATGATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	350	0.0029	517	c.-36 others(528): Show c.-3672_-3671insATCATATATGATATATACATCATATATCACACAT ATGATATATACATCATATATCACACATATGATATATACATCATATATCAC ACATATGATATATACATCATATATCACACATATGATATACATCATATATC ACACATATGATATACATCATATATCACACATATGATATACATCATATATC ACACATATGATATACATCATATATCACACATATGATATACATCATATATC ACACATATGATATACATCATATATCACACATATGATATATATCATATATC ACACATATGATATATATCATATATCACACATATGATATATATCATACATA TCACATATATCATATATATCATACATATCACATATATCATATATATCATA CATATCACATATATCATATATATCATATATATCACATATATGATATATAT CATATATATCACATATATCATATATATCATATATATCACATATATGATAT ATATATCATATATATCACATATATGATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3568		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(510): Show CATATGTGATATATATTGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCATATATATGATATATGTCACAT ATATCATATATATGATATATATCACATATATCATATATATGATATATATC ATATATATCATATATATGATATATATCACATATCATATATATGATATATA TCATATATCATATATATGATATATATCACATATATATATCATATATATCA CATATATATCATATATATCACATATATATCATATATATGATATATATCAT ATATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	350	0.0029	517	c.-34 others(528): Show c.-3494_-3493insATATGTGATATATATTGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATATATA TGATATATGTCACATATATCATATATATGATATATATCACATATATCATA TATATGATATATATCATATATATCATATATATGATATATATCACATATCA TATATATGATATATATCATATATCATATATATGATATATATCACATATAT ATATCATATATATCACATATATATCATATATATCACATATATATCATATA TATGATATATATCATATATATATCATATATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ABR_chr17_998519_1184981	1173286	C C	CCAACACA others(511): Show CCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCC GACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACA CATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCAC CTCAGTCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGC CCACCCCCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCC AACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACTCAACACA TCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCT CAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCC ACCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGTCCACT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	337	0.0030	518	c.61+ others(533): Show c.61+6380_61+6381insAGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGT TGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGAGTG GACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGA GGTGATGGGGGGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGAT GTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTG GGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGG CTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGA CTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACT GAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADPRHL1_chr13_113394611_113458488	113419014	T T	TCCTCCCT others(511): Show TCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCC CTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTT CCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTTCTTCCCCTTCCCCTCCCTTCCCTTCCTTCTTTTCCTTC CCTCCCTCCCTCCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCC TTCCTTCACTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCC CTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG01891.hp2 HG02572.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0023 a0003c0003t0008 a0003c0003t0023	a0003c0003t0008g0251 a0003c0003t0023g0247 a0003c0003t0008g0251 a0003c0003t0023g0247	2	262	0.0076	518	c.106 others(537): Show c.1061+3811_1061+3812insGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGA AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGAAGGAAAAG AAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGG GAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGGAGGGAGGGAGGGAAGGAA AAGAAGGAAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAAGGAAAAGAA GGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGA GGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGA AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGG GAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(511): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTTACCTACCCATT AATTCACCCACCCTTCCACCACCCACCCACCCATCCATATACCCACCCAC CCATTCACCCATCCATTCATCCATCCACCCACCCACCCATTCACCCACCC ACCCAGCCATCTCACCCATTCACCCATCCACTCATCCATTCACCTATCCA CCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02738.hp1 HG01167.hp2 HG02738.hp1	a0009 a0043 a0009 a0043	a0009c0011 a0043c0031 a0009c0011 a0043c0031	a0009c0011t0030 a0043c0031t0070 a0009c0011t0030 a0043c0031t0070	a0009c0011t0030g0196 a0043c0031t0070g0018 a0009c0011t0030g0196 a0043c0031t0070g0018	2	262	0.0076	518	c.775 others(533): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGGATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGAT GGGTGGGTGGGTATATGGATGGGTGGGTGGGTGGGTGGTGGAAGGGTGGG TGAATGGATGGGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATG AGTGGATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(511): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCACCCATCCATTCGCCCACCCATTTACCTACCCATT AATTCACCCACCCTTCCACCACCCACCCACCCATCCATATACCCACCCAC CCATTCACCCATCCATTCATCCATCCACCCACCCACCCATTCACCCACCC ACCCAGCCATCTCACCCATTCACCCATCCACTCATCCATTCACCTATCCA CCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0072 a0002c0002t0072	a0002c0002t0072g0174 a0002c0002t0072g0174	1	262	0.0038	518	c.775 others(533): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGCGAATGGATGGGTGGATGGGTGGATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGGATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGAT GGGTGGGTGGGTATATGGATGGGTGGGTGGGTGGGTGGTGGAACGGTGGG TGAATGGATGGGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATG AGTGGATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)