Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(568): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCTGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	262	0.0038	575	c.129 others(592): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCAGAATAGATCCGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GACAAAAG others(568): Show GACAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGGAGAAGGA AGAAGGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAA AGAAGAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGA AGAAGAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGA AGAAGAAGGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGAAAGAAGGAAGA AGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGAAGAAGG AAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAGGAAG AAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAGAAA GAAAGAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAGAGG AAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAAGGA AGAAGAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAA GAAGAAGGAAGAAGGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01928.hp1 HG02273.hp1 others(1): Show HG00738.hp1 HG01928.hp1 HG02273.hp1 NA20805.hp1	a0001 a0032 a0001 a0032	a0001c0002 a0032c0036 a0001c0002 a0032c0036	a0001c0002t0001 a0032c0036t0001 a0001c0002t0001 a0032c0036t0001	a0001c0002t0001g0106 a0001c0002t0001g0143 a0001c0002t0001g0146 others(1): Show a0001c0002t0001g0106 a0001c0002t0001g0143 a0001c0002t0001g0146 a0032c0036t0001g0059	4	188	0.0213	575	c.147 others(594): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCTTCT TCCTTCTTCCTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTT CCTCTTCCTTTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTC TTTCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCCTT CTTCCTTCTTTTTCTTCCTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTT CCTTCTTCTTCTTTCTTCCTTCTTCCTTCTCCTTCCTTCTTCCTTCTTCT TCTTCCTTCTTTCTTCTTCCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCT TCTTTCTTCCTTCTTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCT TCCTTCTTCCTTCTTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCTTCT TTCTGCTTCTTCTTCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCCTTCT TCCTTCTCCCTTCTTCTTTCTATTTCTTTCTTCTTCTCTCTTCTTTTGT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GACAAAAG others(568): Show GACAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGGAGAAGGA AGAAGGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAA AGAAGAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGA AGAAGAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGA AGAAGAAGGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGGAAGAAGAAAGA AGGAAGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAG AAGAAGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAG AAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAGAAA GAAAGAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAGAGG AAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAAGGA AGAAGAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAA GAAGAAGGAAGAAGGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	188	0.0053	575	c.147 others(594): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCTTCT TCCTTCTTCCTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTT CCTCTTCCTTTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTC TTTCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCCTT CTTTTTCTTCCTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTT CTTCTTTCTTCCTTCTTCCTTCTCCTTCCTTCTTCCTTCTTCTTCTTCCT TCTTTCTTCTTCCTTCTTCCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCT TCTTTCTTCCTTCTTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCT TCCTTCTTCCTTCTTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCTTCT TTCTGCTTCTTCTTCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCCTTCT TCCTTCTCCCTTCTTCTTTCTATTTCTTTCTTCTTCTCTCTTCTTTTGT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PPP2R2D_chr10_131896008_131964834	131952568	C C	CTAGTGAC others(568): Show CTAGTGACTTGCGGGTGTGCGGGGGGTTCACTAGTGACTTGCGGGTGTGC GGGGGGGTTCATTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTGT CTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGTGACTTGCGG GTGTGCGGGGGGGTTCACTGTCTTAGCAGTGACTTGGGGGGTCCCTGTCT TAGCAGTGACTTGCGGGTGTGCGGGGGTTCACTGTCTTAGTGACTTGCGG GTGTGCGGGGGGTTCACTGTCTTAGTGATTTGCATGTGTGGGGGGGGTTC ACTGTCTTAGTGACTTGCGGGTGTGCGGGGGTTCACTGTCTTAGTGACTT GCGGGTGTGCGGGGGTTCACTGTCTTAGCAGTGACTTGTGGGTGTGCGGG GGTTCACTGTCTTAGTGACTTGGTGTGCGGGGGGGTTCACTGTCTTAGTG ACTTGTGGGTGTGCGGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCG GGGGGTTCACTAGTGACTTGCGGGTGTGCGGGGGGTTCACTAGTGACTTG CGGGTGTGCGGGGGGGTTCATTGTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01258.hp2 HG01346.hp2 others(6): Show HG00099.hp2 HG01258.hp2 HG01346.hp2 HG02083.hp2 HG02922.hp2 NA18992.hp1 NA19030.hp2 NA19066.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0048 a0001c0001t0007 a0001c0001t0048	a0001c0001t0007g0005 a0001c0001t0007g0179 a0001c0001t0007g0183 others(4): Show a0001c0001t0007g0005 a0001c0001t0007g0179 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0187 a0001c0001t0007g0194 a0001c0001t0048g0182	9	394	0.0228	575	c.108 others(594): Show c.1083-3085_1083-3084insAGTGACTTGCGGGTGTGCGGGGGGGT TCATTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGTGA CTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGG GGGGGTTCACTGTCTTAGCAGTGACTTGGGGGGTCCCTGTCTTAGCAGTG ACTTGCGGGTGTGCGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGG GGGGTTCACTGTCTTAGTGATTTGCATGTGTGGGGGGGGTTCACTGTCTT AGTGACTTGCGGGTGTGCGGGGGTTCACTGTCTTAGTGACTTGCGGGTGT GCGGGGGTTCACTGTCTTAGCAGTGACTTGTGGGTGTGCGGGGGTTCACT GTCTTAGTGACTTGGTGTGCGGGGGGGTTCACTGTCTTAGTGACTTGTGG GTGTGCGGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTC ACTAGTGACTTGCGGGTGTGCGGGGGGTTCACTAGTGACTTGCGGGTGTG CGGGGGGGTTCATTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTCACT	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRPF31_chr19_54110754_54136713	54133748	T T	TTCTCTCC others(568): Show TTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCC CTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCC CTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTC CCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCC TCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCT CTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCT CCACCTCCCCTCCCTCTGTCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	227	0.0044	575	c.23 others(586): Show c.2316_*2317insTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCT CCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCC CTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCT TCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCC TGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCC TCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2036		chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(568): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTG ATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGT GATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATG ATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGT GGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGAT AATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGA TGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTG GTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGAT GGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	374	0.0027	575	c.-46 others(586): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATG ATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGAT GGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATG ATGGTGATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGT GATGGTGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGG TGGTAATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTG ATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGAT GATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RAB11FIP3_chr16_420649_528011	504407	T T	TTCCTGTA others(568): Show TTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCC CCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCT GTACCCCCCTCACCTCTTCCTGTACCACCTCCTCCTGTACCCCCTCACCT CCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCC CCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCT CCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCT CACCTCCTCCTATACCCCCTCACCTCCTCCTATACCCCCTCACCTCCTCC TGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCAC CTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACC CCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCT TGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTC ACCTCCTCCTGTACCCCCTCACCTCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01255.hp1 others(2): Show HG00140.hp2 HG00280.hp2 HG01255.hp1 HG01361.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0016 a0001c0002t0002 a0001c0002t0016	a0001c0002t0002g0121 a0001c0002t0002g0154 a0001c0002t0002g0167 others(2): Show a0001c0002t0002g0121 a0001c0002t0002g0154 a0001c0002t0002g0167 a0001c0002t0002g0255 a0001c0002t0016g0155	5	295	0.0170	575	c.139 others(594): Show c.1396-1112_1396-1111insTACCCGCCTCACCTCCTCCTGCACTC CCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCACCTCC TCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCC TCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCTCACCTCCTCCT GTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCA CCTCCTTGTGCACCCCCTCACCTCCTCCTATACCCCCTCACCTCCTCCTA TACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACC TCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCC CTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCC TGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCAC CTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114099645	G G	GCAGCCCC others(568): Show GCAGCCCCCCCACAGCCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAG CCCCCCCACAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCC CCCACAGCCCCCCACAGCAGCCCCCCCACATCAGCCCCCCCACAGCCCCC CCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCCCAC AGCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCGTAGCC CCCACAGCAGCCCCCCGTAGCCCCCACAGCCCCCACAGCAGCCCCACAGC AGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCC CCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCAC AGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCC CACAGCAGCCCCCCACAGCAGCCCCCACAGCAGCCCCCCCACAGCCCCCA CAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACA GCCCCCCCACAGCCCCCACAGCAGCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0029 a0002c0004t0004g0029	1	67	0.0149	575	c.56- others(592): Show c.56-25809_56-25808insGGCTGCTGTGGGGGCTGTGGGGGGGCTG TGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTG GGGGCTGTGGGGGGGCTGCTGTGGGGGCTGCTGTGGGGGGCTGCTGTGGG GGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGT GGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGG GCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGC TGTGGGGCTGCTGTGGGGGCTGTGGGGGCTACGGGGGGCTGCTGTGGGGG CTACGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGT GGGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGG GGGCTGTGGGGGGGCTGATGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGG GGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCT GTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGGCTGTGGGGGGGCTG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79555291	G G	GATGGTGG others(568): Show GATGGTGGTGATGATGGTGGTGGTATTGATGGAGATGATGATGACAGTGA TAATGGTGGTGGTGGTAATGGTGATTATATGTCAGTGATGGTGGTGGTGG TGGTGATGGTGATGATAGTCATGATGGTGGTGATAGTGATGGCAATGGTG ATGATGGCAGTGATGGTGATTATGAGAGTAGTGATGGTGGTGATGGCGAT GGTAATGGTGATAATGGCGATGATGGTGGTGATGGTGATGATGATAGTAA TGATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATA ATGGTGGTGACGGCAGTGGTGGTGGTGGTAATGGTGATCATGTCAGTGAT GGTGGTGGTGGTGATGATAGTAATGATGGTGGTGATGGTGGTGGCAATGG TGATGATGGCAGTGATGGCGGTGAGGGTGATTATGATAGTAGTGATGGTG ATGGCAATGGTAATGGTGATAATGGCGATGATGGTGGTGATGGCAGTGGT GGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGATGACAGTGGTGG TGGTAACGGTGGTGATAATAGTGATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18971.hp1 HG00423.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0074 a0001c0001t0002g0148 a0001c0001t0001g0074 a0001c0001t0002g0148	2	154	0.0130	575	c.-32 others(596): Show c.-320+55534_-320+55535insTATCACTATTATCACCACCGTTAC CACCACCACTGTCATCACCACCATTATCACTATTATCACCACCGTTACCA CCACCACTGCCATCACCACCATCATCGCCATTATCACCATTACCATTGCC ATCACCATCACTACTATCATAATCACCCTCACCGCCATCACTGCCATCAT CACCATTGCCACCACCATCACCACCATCATTACTATCATCACCACCACCA CCATCACTGACATGATCACCATTACCACCACCACCACTGCCGTCACCACC ATTATCACTATTATCACCACCGTTACCACCACCACTGCCATCACCACCAT CATTACTATCATCATCACCATCACCACCATCATCGCCATTATCACCATTA CCATCGCCATCACCACCATCACTACTCTCATAATCACCATCACTGCCATC ATCACCATTGCCATCACTATCACCACCATCATGACTATCATCACCATCAC CACCACCACCACCATCACTGACATATAATCACCATTACCACCACCACCAT TATCACTGTCATCATCATCTCCATCAATACCACCACCATCATCACCACCA T	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79555291	G G	GATGGTGG others(568): Show GATGGTGGTGATGATGGTGGTGGTATTGATGGAGATGATGATGACAGTGA TAATGGTGGTGGTGGTAATGGTGATTATATGTCAGTGATGGTGGTGGTGG TGGTGATGGTGATGATAGTCATGATGGTGGTGATAGTGATGGCAATGGTG ATGATGGCAGTGATGGTGATTATGAGAGTAGTGATGGTGGTGATGGCGAT GGTAATGGTGATAATGGCGATGATGGTGGTGATGGTGATGATGATAGTAA TGATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATA ATGGTGGTGACGGCAGTGGTGGTGGTGGTAATGGTGATCATGTCAGTGAT GGTGGTGGTGGTGATGATAGTAATGATGGTGGTGATGGTGGTGGCAATGG TGATGATGGCAGTGATGGCGGTGAGGGTGATTATGATAGTAGTGATGGTG ATGGCAATGGTAATGGTGATAATGGCGATGATGGTGGTGATGGCAGTGGT GGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGATGGCAGTGGTGG TGGTAACGGTGGTGATAATAGTGATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	154	0.0065	575	c.-32 others(596): Show c.-320+55534_-320+55535insTATCACTATTATCACCACCGTTAC CACCACCACTGCCATCACCACCATTATCACTATTATCACCACCGTTACCA CCACCACTGCCATCACCACCATCATCGCCATTATCACCATTACCATTGCC ATCACCATCACTACTATCATAATCACCCTCACCGCCATCACTGCCATCAT CACCATTGCCACCACCATCACCACCATCATTACTATCATCACCACCACCA CCATCACTGACATGATCACCATTACCACCACCACCACTGCCGTCACCACC ATTATCACTATTATCACCACCGTTACCACCACCACTGCCATCACCACCAT CATTACTATCATCATCACCATCACCACCATCATCGCCATTATCACCATTA CCATCGCCATCACCACCATCACTACTCTCATAATCACCATCACTGCCATC ATCACCATTGCCATCACTATCACCACCATCATGACTATCATCACCATCAC CACCACCACCACCATCACTGACATATAATCACCATTACCACCACCACCAT TATCACTGTCATCATCATCTCCATCAATACCACCACCATCATCACCACCA T	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RCOR1_chr14_102587649_102735561	102676509	C C	CCCCCCCC others(568): Show CCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGC TGACCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCTGGACG GGGCGGCTGGCCGGGCGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0174 a0001c0001t0036g0174	1	292	0.0034	575	c.362 others(592): Show c.362-5379_362-5378insCCCCCCCCCCGCCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCAGGTGGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCTGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAC CTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF139_chr8_124469880_124493618	124482916	A A	ATATATAT others(568): Show ATATATATCTAGGGGGCCCCTAGATAGCTTCAGGATGGGGGCTAGGTAGC CAGGGGAATCAGCCCAGTGATTAAGGGTTATAACTTTGATTCCTACCCCC AGCCGCCACTTCTGGGAAGAAAGAAGCTGAAACTTGAGTCCATAAACCAA TGACTAGTGATCTAATCAATCTTGCCTATTTAATGAACTTCCATAGAAGC CCAAAAGGACTGAGTTCTGTGAGCTCTCAGATAGCTGAACACTGAAGCTC CACGCCCCTTCTCCTCTTCTCTCCTTCTTTGTCTCACCTTGTACATCTCC TTCCATCGGGTTAATTCATCTGTGTCCTTTGTAATTGCCTTTATAATAAA TGGGTAAATGTAAGTACAGTAGTTCCCCCTTACCCAAGATTTGACTTCCT TTTTTTTTTTTTTTTTTAGTGATGGAGTCTCGCTCTGTTGCCCAGGCTGG AGTGCAGTGGTGCGATCTTTTGATTAACATAGGTTTTTAACCTCAATATC ATTTAAAGATATATATTAAATTATATATATTAAAATATGTATATTAATAT ATATTTAAATTATATAATTTAAATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0116 a0001c0002t0009g0116	1	408	0.0025	575	c.182 others(592): Show c.182-2915_182-2914insTATATATCTAGGGGGCCCCTAGATAGCT TCAGGATGGGGGCTAGGTAGCCAGGGGAATCAGCCCAGTGATTAAGGGTT ATAACTTTGATTCCTACCCCCAGCCGCCACTTCTGGGAAGAAAGAAGCTG AAACTTGAGTCCATAAACCAATGACTAGTGATCTAATCAATCTTGCCTAT TTAATGAACTTCCATAGAAGCCCAAAAGGACTGAGTTCTGTGAGCTCTCA GATAGCTGAACACTGAAGCTCCACGCCCCTTCTCCTCTTCTCTCCTTCTT TGTCTCACCTTGTACATCTCCTTCCATCGGGTTAATTCATCTGTGTCCTT TGTAATTGCCTTTATAATAAATGGGTAAATGTAAGTACAGTAGTTCCCCC TTACCCAAGATTTGACTTCCTTTTTTTTTTTTTTTTTTAGTGATGGAGTC TCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTTTTGATTAACA TAGGTTTTTAACCTCAATATCATTTAAAGATATATATTAAATTATATATA TTAAAATATGTATATTAATATATATTTAAATTATATAATTTAAATAT	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(568): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGG GAGTGAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGG GGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTC TGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGT GAGTGGGGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTG AGTGTGGGGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00609.hp2 others(17): Show HG00423.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG01069.hp1 HG01106.hp1 HG01934.hp1 HG01952.hp2 HG02040.hp1 HG02132.hp2 HG02148.hp1 HG03831.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18952.hp1 NA18957.hp1 NA18998.hp1 NA19060.hp1 NA19081.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0099	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0029 a0001c0071 a0001c0072 a0002c0002 a0003c0005 a0003c0030 a0004c0009 a0099c0043	a0001c0001t0001 a0001c0001t0034 a0001c0001t0052 others(16): Show a0001c0001t0001 a0001c0001t0034 a0001c0001t0052 a0001c0003t0002 a0001c0004t0007 a0001c0004t0011 a0001c0004t0014 a0001c0006t0011 a0001c0029t0007 a0001c0029t0011 a0001c0071t0001 a0001c0072t0002 a0002c0002t0009 a0003c0005t0007 a0003c0005t0080 a0003c0030t0007 a0004c0009t0009 a0004c0009t0010 a0099c0043t0003	a0001c0001t0001g0040 a0001c0001t0034g0086 a0001c0001t0052g0054 others(17): Show a0001c0001t0001g0040 a0001c0001t0034g0086 a0001c0001t0052g0054 a0001c0003t0002g0044 a0001c0004t0007g0047 a0001c0004t0011g0048 a0001c0004t0014g0046 a0001c0004t0014g0053 a0001c0006t0011g0051 a0001c0029t0007g0039 a0001c0029t0011g0041 a0001c0071t0001g0055 a0001c0072t0002g0038 a0002c0002t0009g0042 a0003c0005t0007g0058 a0003c0005t0080g0052 a0003c0030t0007g0037 a0004c0009t0009g0043 a0004c0009t0010g0057 a0099c0043t0003g0045	20	292	0.0685	575	c.261 others(592): Show c.261+1222_261+1223insAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGG TGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTG TGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTG TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGT GAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTG AGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTGTGGGGT GAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGG GGTGAGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(568): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTATATAT TTAGTTTATAAATATATATTTATTTATTTAGTTTATAAATATATATTTAT TTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTAT TTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTACATAT TTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTAC ATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	308	0.0033	575	c.-75 others(594): Show c.-758+6731_-758+6732insATTTATCTATAAATTAAATATATAAA TATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAAT TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATAAACTAAATATATAA ATATGTATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATAT GTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAA ATATGTAAATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAA ATAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAA ATAAATATATATTTATAAACTAAATAAATAAATATATATTTATAAACTAA ATATATAAATATATATTTATAAACTAAATATATAAATATATGTTTATAAA CTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTA TAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(568): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAG TTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAG TTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAG TTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATAT TTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	308	0.0033	575	c.-75 others(594): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAT TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATAAACTAAATATATAAATATGTATTTATAAACTAA ATATATAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAA CTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATTTATAAA CTAAATATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAA CTAAATATGTAAATATATATTTATAAACTAAATAAATATATATTTATAAA CTAAATAAATATATATTTATAAACTAAATATATAAATATATATTTATAAA CTAAATATATAAATATATATTTATAAACTAAATATATAAATATATATTTA TAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	314723	C C	CTGACCTG others(568): Show CTGACCTGTAGTCCCTGTGCCCCACCTCCATTGACCTGCAGTCTCTGTAC TCCATGTCCATTGACCTGTAGTCCCTGTGACTCCACCTCCATTGAACTGT AGTCCCTGTGCCCCACCTCCATTGACCTGTAGTCCCTGTGACTCCACTTC CATTGACCTGTAGTCTCTGTGCTCCACCTCCACTGACCTGTAGTCCCTGT GCCCCACCTCCATTGACCTGCAGTCTCTGTACTCCACGTCCATTGACCTG TAGTCCCTGTGACTTCACCTCCATTGACCTGTAGTCCCTGTGCTCCACCT CCATTGACCTGTAGTCTCTGTGACCCCACCTCCATTGGCCTGTAGTCCCT GTACTCCACGTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACC TGTAGTCCCTGTGCCCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACC TCCATTGACCTGTAGTCCCTGTACTCCACGTCCATTGACCTGTAGTCTCT GTGCTCCACCTCCATTGACCTGTAGTCCCTGTGACTCCACCTCCATTGAC CTGTAGTCTCTGTGCTCCACCTCCAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03540.hp1 HG02723.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0027 a0001c0001t0006 a0001c0001t0027	a0001c0001t0006g0072 a0001c0001t0027g0118 a0001c0001t0006g0072 a0001c0001t0027g0118	2	133	0.0150	575	c.351 others(592): Show c.351+4696_351+4697insATGGAGGTGGAGCACAGAGACTACAGGT CAATGGAGGTGGAGTCACAGGGACTACAGGTCAATGGAGGTGGAGCACAG AGACTACAGGTCAATGGACGTGGAGTACAGGGACTACAGGTCAATGGAGG TGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTACAGG TCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGACGTGGAGTACAG GGACTACAGGCCAATGGAGGTGGGGTCACAGAGACTACAGGTCAATGGAG GTGGAGCACAGGGACTACAGGTCAATGGAGGTGAAGTCACAGGGACTACA GGTCAATGGACGTGGAGTACAGAGACTGCAGGTCAATGGAGGTGGGGCAC AGGGACTACAGGTCAGTGGAGGTGGAGCACAGAGACTACAGGTCAATGGA AGTGGAGTCACAGGGACTACAGGTCAATGGAGGTGGGGCACAGGGACTAC AGTTCAATGGAGGTGGAGTCACAGGGACTACAGGTCAATGGACATGGAGT ACAGAGACTGCAGGTCAATGGAGGTGGGGCACAGGGACTACAGGTCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(568): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTC CCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	150	0.0067	575	c.77- others(592): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCT CCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(568): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTC CCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	158	0.0063	575	c.22+ others(592): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCT CCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHROOM3_chr4_76430229_76788253	76608743	T T	TAGCATAG others(568): Show TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0022 a0022	a0022c0034 a0022c0034	a0022c0034t0001 a0022c0034t0001	a0022c0034t0001g0103 a0022c0034t0001g0103	1	218	0.0046	575	c.323 others(594): Show c.323+52984_323+52985insTAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCACAGCA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1098431	G G	GGCCCCCT others(568): Show GGCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACG CCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCCTCTAACCCTCT GCACACCCAGCCCCCTTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACC CTCTGCACGCCCAGCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTA ACCCTCTGCACACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGCCCCCC TCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCC CCCCCTCTAACCCTCTGCACACTTCCCAGCCCCCCCTCTAACCCTCTGCA CACCCAGCCCCCCTCTAACCCTCTGCACACCCCAGCCCCCCTCTAACCCT CTGCACACCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCCTCTA ACCCTCTGCACGCCCAGCCCCCCTTCTAACCCTCTGCATGCCCAGCCCCC CTCTAACCTTCTGCACACCCAAGCCCCCTTCTAACCTTCTGCACACCCAG CCCCCTTCTAACCCTCTGCTCACCCA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0078 a0001c0006t0011g0078	1	118	0.0085	575	c.125 others(592): Show c.125-4184_125-4183insTGGGTGAGCAGAGGGTTAGAAGGGGGCT GGGTGTGCAGAAGGTTAGAAGGGGGCTTGGGTGTGCAGAAGGTTAGAGGG GGGCTGGGCATGCAGAGGGTTAGAAGGGGGGCTGGGCGTGCAGAGGGTTA GAGGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAG GGTTAGAGGGGGGCTGGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTG CAGAGGGTTAGAGGGGGGGCTGGGAAGTGTGCAGAGGGTTAGAGGGGGGG CTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGG GGGGCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTA GAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGCTGGGCGTGCAGAGGG TTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAG AGGGTTAGAGGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGCG TGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC45A4_chr8_141202174_141313288	141203522	G G	GAGGGAGA others(568): Show GAGGGAGAGAGGGGAGAGAGGGAGAGAGGGAGAGGAGGGAGAGAGGGAGA GAGGGAGAGAGAGAGAGAGAGAGAGGGAGAGGGAGAGGGGAGAGGGAGAG GGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGGGAG AGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGCGAGGGAGAGGAGAGGGAGAGGGAGAGAGGGAG AGAGGGAGAGAGGAGAGAGAGAGAGAGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGAGGAGAGAGGGAGAGAGGGGAGAGAGGAGAGAGGAGAGA GAGGGAGAGGGAGAGGGAGGGAGGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGAGAGAGAGGGAGAGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGA GGAGAGAGAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGTAGAGGGAGAG AGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGGGAG GAGAGAGGGAGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0099 a0001c0004t0006g0099	1	188	0.0053	575	c.80 others(586): Show c.8049_*8050insTCTCCCTCTCCCTCTCTCCCTCTCTCCTCCCTCT CCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCTCCCT CTACCTCTCCCTCTCCCTCTCCCTCTCCCTCTCTCTCTCTCCTCCTCTCT CCCTCTCTCCCTCTCTCCCTCTCTCCTCTCCCTCTCTCTCCTCTCTCCCT CTCTCCCTCTCTCCCTCTCCTCCCTCCCTCTCCCTCTCCCTCTCTCTCCT CTCTCCTCTCTCCCCTCTCTCCCTCTCTCCTCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCTCTCTCTCTCTCTCCTCTCTCCCTCTCTCCCTCT CTCCCTCTCCCTCTCCTCTCCCTCGCTCCCTCTCTCCCTCTCTCCCTCTC TCCCTCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCT CTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCT CTCCCCTCTCCCTCTCCCTCTCTCTCTCTCTCTCTCTCCCTCTCTCCCTC TCTCCCTCCTCTCCCTCTCTCCCTCTCTCCCCTCTCTCCCT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3651		chr8	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(568): Show GAGGGAGGCAGGGAGGGAGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAG GGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGAGGGAGGG AGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGGAGGGAGGGAGAGGGA GGGAGGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAG GGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAG AGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGG AGAGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGTGGGAGGGGAGAGGG AGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGG AGGGAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAG AGGGGAGGCAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGGCAGGGAGAGA GGGAGGGAGAGGGAGGCAGGGAGGGAGAGGGACGCAGGGGGAGAGGTAGG GAGGGAGAGAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0005 a0001c0052t0005	a0001c0052t0005g0088 a0001c0052t0005g0088	1	132	0.0076	575	c.227 others(594): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCCT CTCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCT CCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCT CCCTCTCCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCTCT CCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCT CTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCC CTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCCTCCC TCCCTCTCCCTCCCTCCCCTCCTTGCCTCCCTCTCCCTCCCTCCCACCCT CCCTCCCTCTCCCTCCTTGCCTCCCTCTCCCTCGCTCCCTCCCTGCCTCC CTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCTCCCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(568): Show TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATAT ATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATAT ATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTA TATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATT ATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAA TATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAA TATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGT TTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATAT ATTATAGTTTATATAATATATAAATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03688.hp1 HG00408.hp2 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0010 a0002c0002t0002g0011	2	302	0.0066	575	c.12+ others(590): Show c.12+4102_12+4103insGTTTATATAATATATAAATATATATTATAG TTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATA TATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATA TAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTAT ATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATTA TAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAAT ATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAAT ATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTT TATATAATATATAAATATATATTATAGTTTATATAATATATAAATATATA TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SORCS2_chr4_7187538_7747827	7724853	G G	GTTATGGT others(568): Show GTTATGGTGATGATGGTGGTAGTGGTGATGGTGGTGGTGATGGCAGTGAT GATGGTGGAGGTGATGGTGGTAGTTATGGTGATGATGGTGGTAGTGGTGA TGGTGGTGGTGTTGGTGATGGTGGTGATAGTAGTGGTGGGAATGGATGGT GGTGGTGATGGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGATGGTGC TGGTGAGGATGGTGATGGTGGTGATGGTGGTGGTGATGGCAGTGATGATG GTGGAGGTGATGGTGGTAGTTATGGTGATGATGGTGGTAGTGGTGATGGT GGTGGTGTTGGTGATGGTGGTGGTGATAGTGCTGGTGAGGATGGTGATGG TGGTGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGATGATGGTGGTG GTGATGGTGGTGGTGTTGGTGATGGTGGTGATAGTGTTGGTGGGAATGGA TGGTGGTGGTGATGGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGATA GTGCTGGTGAGGATGGTGATGGTGGTGATGGTGGTGGTGATGGCAGTGAT GATGGTGGAGGTGATGGTGGTAGTTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0070 a0006c0021t0070	a0006c0021t0070g0103 a0006c0021t0070g0103	1	168	0.0060	575	c.261 others(592): Show c.2612-300_2612-299insTATGGTGATGATGGTGGTAGTGGTGATG GTGGTGGTGATGGCAGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGT GATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGGTGGTGATAG TAGTGGTGGGAATGGATGGTGGTGGTGATGGTGATGGTGGTGGTGTTGGT GATGATGGTGGTGATGGTGCTGGTGAGGATGGTGATGGTGGTGATGGTGG TGGTGATGGCAGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGTGATG ATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGGTGGTGGTGATAGT GCTGGTGAGGATGGTGATGGTGGTGATGGTGGAGGTGATGGTGGTAGTTA TGGTGATGATGATGGTGGTGGTGATGGTGGTGGTGTTGGTGATGGTGGTG ATAGTGTTGGTGGGAATGGATGGTGGTGGTGATGGTGATGGTGGTGGTGT TGGTGATGATGGTGGTGATAGTGCTGGTGAGGATGGTGATGGTGGTGATG GTGGTGGTGATGGCAGTGATGATGGTGGAGGTGATGGTGGTAGTTAT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(568): Show TATAATGATATATAATATATATCATCATATAACATATAATGATATATAAT ATATATCATCATATAACATATAATGATATATAATATATATCATCATATAA CATATAATGATATATAATATATATCATCATATAACATATAATGATATATA ATATATATCATCATATAACATATAATGATATATAATATATATCATCATAT AACATATAATGATATATAATATATATCATCATATAACATATAATGATATA TAATATATATCATCATATAACATATAATGATATATAATATATATCATCAT ATAACATATAATGATATATAATATATATCATCATATAACATATAATGATA TATAATATATATCATCATATAACATATAATGATATATAATATATATCATC ATATAACATATAATGATATATAATATATATCATCATATAACATATAATGA TATATAATATATATCATCATATAACATATAATGATATATAATATATATCA TCATATAACATATGATATATAATATATATCATCATATAACATATGATATA TAATATATATCATCATATAACATATG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0274 a0001c0001t0003g0274	1	356	0.0028	575	c.-11 others(596): Show c.-112+29225_-112+29226insATGATATATAATATATATCATCAT ATAACATATAATGATATATAATATATATCATCATATAACATATAATGATA TATAATATATATCATCATATAACATATAATGATATATAATATATATCATC ATATAACATATAATGATATATAATATATATCATCATATAACATATAATGA TATATAATATATATCATCATATAACATATAATGATATATAATATATATCA TCATATAACATATAATGATATATAATATATATCATCATATAACATATAAT GATATATAATATATATCATCATATAACATATAATGATATATAATATATAT CATCATATAACATATAATGATATATAATATATATCATCATATAACATATA ATGATATATAATATATATCATCATATAACATATAATGATATATAATATAT ATCATCATATAACATATAATGATATATAATATATATCATCATATAACATA TAATGATATATAATATATATCATCATATAACATATGATATATAATATATA TCATCATATAACATATGATATATAATATATATCATCATATAACATATGAT A	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(568): Show GGAGGGAGACGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	322	0.0031	575	c.909 others(590): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCGTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(568): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAGGAAAGGAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAGGA AAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAG GGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGG AGGGAGGAAAGGAAGGAGGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGG GAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0279 a0001c0001t0083g0279	1	322	0.0031	575	c.597 others(592): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC CCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCT TCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCCCCCTCCCCTCCTTCCTTTCCTCCCTCC CTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCT CCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTC CTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTC CCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCC TCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(568): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAGGAAAGGAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGG AAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGG GAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01516.hp1 HG01517.hp1 others(12): Show HG00423.hp2 HG01516.hp1 HG01517.hp1 HG01952.hp1 HG02080.hp2 HG02132.hp1 HG02300.hp2 HG02738.hp2 HG04184.hp1 HG04199.hp2 NA18941.hp1 NA18981.hp1 NA19004.hp1 NA19058.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0077 a0001c0001t0080	a0001c0001t0003g0278 a0001c0001t0006g0271 a0001c0001t0006g0272 others(12): Show a0001c0001t0003g0278 a0001c0001t0006g0271 a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0006g0274 a0001c0001t0006g0275 a0001c0001t0006g0276 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0009g0262 a0001c0001t0009g0263 a0001c0001t0009g0264 a0001c0001t0077g0005 a0001c0001t0080g0270	15	322	0.0466	575	c.597 others(592): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC CCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCT TCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTC CCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCC TCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(568): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAGGAAAGGAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGG AAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGG GAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(17): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00738.hp2 HG01106.hp2 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG02015.hp1 HG02040.hp1 HG02109.hp2 HG02258.hp1 HG02300.hp1 HG04199.hp1 HG04228.hp1 NA18972.hp2 NA18999.hp1 NA19004.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0018 a0001c0001t0033 others(4): Show a0001c0001t0003 a0001c0001t0018 a0001c0001t0033 a0001c0001t0069 a0001c0001t0076 a0001c0001t0102 a0001c0004t0003	a0001c0001t0003g0185 a0001c0001t0003g0206 a0001c0001t0003g0212 others(17): Show a0001c0001t0003g0185 a0001c0001t0003g0206 a0001c0001t0003g0212 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0219 a0001c0001t0003g0222 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0018g0202 a0001c0001t0018g0218 a0001c0001t0033g0210 a0001c0001t0033g0221 a0001c0001t0069g0220 a0001c0001t0076g0224 a0001c0001t0102g0321 a0001c0004t0003g0213	20	322	0.0621	575	c.597 others(592): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC CCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTC CCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCC TCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TCF3_chr19_1604292_1657615	1629129	C C	CAGAGCTC others(568): Show CAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGA GGTGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGC AGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGT GAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGGAAGGGGAC AGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGG GTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGA CAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGG GGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGG GACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGCAGAGCTCAC GGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGGGA AGGGGACAGCAGAGCTCATGGGGATGGGGTGGGAAGGGGACAGCAGAGCT CACGGGTGGGGCGGGAAGGGGACAGA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0065 a0002c0001t0007g0065	1	352	0.0028	575	c.299 others(592): Show c.299-1704_299-1703insTCTGTCCCCTTCCCGCCCCACCCGTGAG CTCTGCTGTCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCCCTTC CCGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCC CTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCC CGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTC CCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGT CCCCTTCCTGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGC TGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCACCTC ACCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TMEM242_chr6_157284025_157328519	157311239	T T	TACCAGTG others(568): Show TACCAGTGTGCGCTCACCCGGCCTAATCATAGTGCCCCAGTGTGCACTCA CCAGGTCTCATCATAATGACCCAGTGTGCACTCACCTAGCCTCATCATAC TATCCCAGTATGCGCTCACCTAGCCTCATCATTGTGTCCCAGTGTGCGCT CAACCGGCCTCATCATAGTGCCCCAGTGTGCACACACCTAGCCTCATAAT AGTGTCCCAGTGTGCGCTCAACCGGCCTCATCATAGTGCCCCAGTGTGCA CTCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTAACCCGACCTCATC ATAGTGCCCCAGTGTGCACTCACCAAGCCTCATCATAGTGCGCCAGTGTG CACTCACCTGGCCTCATAGTATCCCAGTATCCACTCACCCGGCCTCATCA TACTGTCCCAGTGTGCGCTCACCCGGCCTCATCATAGTGCCACAGTGTGC GCTCACCCGGCCTCATCATAGTGCCGCAGTGTGCGCTCACCTGGCTTCAA CATAGTGTCCCAGTGAGCGCTCGCCTGGCCTCATCATAGTGTCCCAGTGT GCGCTCACCCGGCCTCATCATGGTGC	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19009.hp1 NA19077.hp1 HG02027.hp2 NA19009.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0023 a0001c0001t0001 a0001c0001t0016 a0001c0001t0023	a0001c0001t0001g0139 a0001c0001t0016g0146 a0001c0001t0023g0141 a0001c0001t0001g0139 a0001c0001t0016g0146 a0001c0001t0023g0141	3	344	0.0087	575	c.327 others(592): Show c.327+7542_327+7543insGCACCATGATGAGGCCGGGTGAGCGCAC ACTGGGACACTATGATGAGGCCAGGCGAGCGCTCACTGGGACACTATGTT GAAGCCAGGTGAGCGCACACTGCGGCACTATGATGAGGCCGGGTGAGCGC ACACTGTGGCACTATGATGAGGCCGGGTGAGCGCACACTGGGACAGTATG ATGAGGCCGGGTGAGTGGATACTGGGATACTATGAGGCCAGGTGAGTGCA CACTGGCGCACTATGATGAGGCTTGGTGAGTGCACACTGGGGCACTATGA TGAGGTCGGGTTAGCGCACACTGGGACACTATGATGAGGCTAGGTGAGTG CACACTGGGGCACTATGATGAGGCCGGTTGAGCGCACACTGGGACACTAT TATGAGGCTAGGTGTGTGCACACTGGGGCACTATGATGAGGCCGGTTGAG CGCACACTGGGACACAATGATGAGGCTAGGTGAGCGCATACTGGGATAGT ATGATGAGGCTAGGTGAGTGCACACTGGGTCATTATGATGAGACCTGGTG AGTGCACACTGGGGCACTATGATTAGGCCGGGTGAGCGCACACTGGT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312627	T T	TACCAGTG others(568): Show TACCAGTGTGCGCTCACCCGGCCTAATCATAGTGCCCCAGTGTGCACTCA CCAGGTCTCATCATAATGACCCAGTGTGCACTCACCTAGCCTCATCATAC TATCCCAGTATGCGCTCACCTAGCCTCATCATTGTGTCCCAGTGTGCGCT CAACCGGCCTCATCATAGTGCCCCAGTGTGCACACACCTAGCCTCATAAT AGTGTCCCAGTGTGCGCTCAACCGGCCTCATCATAGTGCCCCAGTGTGCA CTCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTAACCCGACCTCATC ATAGTGCCCCAGTGTGCACTCACCAAGCCTCATCATAGTGCGCCAGTGTG CACTCACCTGGCCTCATAGTATCCCAGTATCCACTCACCCGGCCTCATCA TACTGTCCCAGTGTGCGCTCACCCGGCCTCATCATAGTGCCACAGTGTGC GCTCACCCGGCCTCATCATAGTGCCGCAGTGTGCGCTCACCTGGCTTCAA CATAGTGTCCCAGTGAGCGCTCGCCTGGCCTCATCATAGTGTCCCAGTGT GCGCTCACCCGGCCTCATCATGGTGC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02083.hp1 HG02129.hp2 others(24): Show HG01975.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02735.hp2 HG03540.hp2 HG03688.hp1 HG04228.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18954.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18975.hp2 NA18980.hp2 NA18990.hp2 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 a0001c0001t0022	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0020 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0057 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0163 a0001c0001t0012g0159 a0001c0001t0016g0142 a0001c0001t0022g0140	27	344	0.0785	575	c.327 others(592): Show c.327+6154_327+6155insGCACCATGATGAGGCCGGGTGAGCGCAC ACTGGGACACTATGATGAGGCCAGGCGAGCGCTCACTGGGACACTATGTT GAAGCCAGGTGAGCGCACACTGCGGCACTATGATGAGGCCGGGTGAGCGC ACACTGTGGCACTATGATGAGGCCGGGTGAGCGCACACTGGGACAGTATG ATGAGGCCGGGTGAGTGGATACTGGGATACTATGAGGCCAGGTGAGTGCA CACTGGCGCACTATGATGAGGCTTGGTGAGTGCACACTGGGGCACTATGA TGAGGTCGGGTTAGCGCACACTGGGACACTATGATGAGGCTAGGTGAGTG CACACTGGGGCACTATGATGAGGCCGGTTGAGCGCACACTGGGACACTAT TATGAGGCTAGGTGTGTGCACACTGGGGCACTATGATGAGGCCGGTTGAG CGCACACTGGGACACAATGATGAGGCTAGGTGAGCGCATACTGGGATAGT ATGATGAGGCTAGGTGAGTGCACACTGGGTCATTATGATGAGACCTGGTG AGTGCACACTGGGGCACTATGATTAGGCCGGGTGAGCGCACACTGGT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312627	T T	TACCAGTG others(568): Show TACCAGTGTGCGCTCACCCGGCCTAATCATAGTGCCCCAGTGTGCACTCA CCAGGTCTCATCATAATGACCCAGTGTGCACTCATCTAGCCTCATCATAC TATCCCAGTATGCGCTCACCTAGCCTCATCATTGTGTCCCAGTGTGCGCT CAACCGGCCTCATCATAGTGCCCCAGTGTGCACACACCTAGCCTCATAAT AGTGTCCCAGTGTGCGCTCAACCGGCCTCATCATAGTGCCCCAGTGTGCA CTCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTAACCCGACCTCATC ATAGTGCCCCAGTGTGCACTCACCAAGCCTCATCATAGTGCGCCAGTGTG CACTCACCTGGCCTCATAGTATCCCAGTATCCACTCACCCGGCCTCATCA TACTGTCCCAGTGTGCGCTCACCCGGCCTCATCATAGTGCCACAGTGTGC GCTCACCCGGCCTCATCATAGTGCCGCAGTGTGCGCTCACCTGGCTTCAA CATAGTGTCCCAGTGAGCGCTCGCCTGGCCTCATCATAGTGTCCCAGTGT GCGCTCACCCGGCCTCATCATGGTGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03516.hp2 HG02055.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0112 a0001c0001t0012g0114 a0001c0001t0001g0112 a0001c0001t0012g0114	2	344	0.0058	575	c.327 others(592): Show c.327+6154_327+6155insGCACCATGATGAGGCCGGGTGAGCGCAC ACTGGGACACTATGATGAGGCCAGGCGAGCGCTCACTGGGACACTATGTT GAAGCCAGGTGAGCGCACACTGCGGCACTATGATGAGGCCGGGTGAGCGC ACACTGTGGCACTATGATGAGGCCGGGTGAGCGCACACTGGGACAGTATG ATGAGGCCGGGTGAGTGGATACTGGGATACTATGAGGCCAGGTGAGTGCA CACTGGCGCACTATGATGAGGCTTGGTGAGTGCACACTGGGGCACTATGA TGAGGTCGGGTTAGCGCACACTGGGACACTATGATGAGGCTAGGTGAGTG CACACTGGGGCACTATGATGAGGCCGGTTGAGCGCACACTGGGACACTAT TATGAGGCTAGGTGTGTGCACACTGGGGCACTATGATGAGGCCGGTTGAG CGCACACTGGGACACAATGATGAGGCTAGGTGAGCGCATACTGGGATAGT ATGATGAGGCTAGATGAGTGCACACTGGGTCATTATGATGAGACCTGGTG AGTGCACACTGGGGCACTATGATTAGGCCGGGTGAGCGCACACTGGT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM255B_chr13_113754226_113821995	113817328	C C	CGGGACAC others(568): Show CGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCACG GGACACATCCCTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCACGGGACA CATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGACACA TCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATC CCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCC CCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCC CTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCT CCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCC CTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCT CCAGGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCC AGGGGACACATCCCCCCTCCCTCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0048 a0002c0010t0048	a0002c0010t0048g0035 a0002c0010t0048g0035	1	260	0.0039	575	c.54 others(586): Show c.5425_*5426insGGGACACATCCCCCCTCCCCCCACGGGACACATA CCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACC CCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCC CTCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTC CCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCC CCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCC CACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCA GGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGG GGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGG ACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACAC ATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAT	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		334		chr13	TogoVar
TRAPPC9_chr8_139722725_140462744	140156981	C C	CTTTTCCA others(568): Show CTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTCCAT TCAAAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTTCCATTCAAAAGC CTCCCTTTTCCATTCAGAAGCCTCCCTTTCCATTCAGAAGCCTCCCTTTT CCATTCAGAAGCCTCCCTTTCCATTCAGAAGCCTCCCTTTCCATTCAGAA GCCTCCCTTTTCCATTCAGAAGCCTCCCTTTCCATTCAAAAGCCTCCCTT TTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCATTC AGAAGCCTCCCTTTCCATTCAGAAGCCTCCCTTTTCCATTCAAAAGCCTC CCTTTCCATTCAGAAGCCTCCCTTTCCATTCAGAAGCCTCCCTTTCCATT CAGAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTCCATTCAGAAGCCT CCCTTTCCATTCAGAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTCCA TTCAGAAGCCTCCCTTTCCATTCAGAAGCCTCCCTTTTCCATTCAGAAGC CTCCCTTTCCATTCAGAAGCCTCCCT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0045 a0001c0003t0003g0045	1	98	0.0102	575	c.255 others(596): Show c.2556+64477_2556+64478insAGGGAGGCTTCTGAATGGAAAGGG AGGCTTCTGAATGGAAAAGGGAGGCTTCTGAATGGAAAGGGAGGCTTCTG AATGGAAAGGGAGGCTTCTGAATGGAAAAGGGAGGCTTCTGAATGGAAAG GGAGGCTTCTGAATGGAAAGGGAGGCTTCTGAATGGAAAAGGGAGGCTTC TGAATGGAAAGGGAGGCTTCTGAATGGAAAGGGAGGCTTCTGAATGGAAA GGGAGGCTTTTGAATGGAAAAGGGAGGCTTCTGAATGGAAAGGGAGGCTT CTGAATGGAAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGG AAAAGGGAGGCTTTTGAATGGAAAGGGAGGCTTCTGAATGGAAAAGGGAG GCTTCTGAATGGAAAGGGAGGCTTCTGAATGGAAAGGGAGGCTTCTGAAT GGAAAAGGGAGGCTTCTGAATGGAAAGGGAGGCTTCTGAATGGAAAAGGG AGGCTTTTGAATGGAAAAGGGAGGCTTCTGAATGGAAAAGGGAGGCTTTT GAATGGAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGGAAA A	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TTLL8_chr22_50013575_50063298	50028644	A A	ACCCCCAT others(568): Show ACCCCCATCACACCGTCCTGAAGACCCACACATACCCTCGTAAAGACCCC CATCACACCGTCCTGAAGACCCACACATACCCTCGTAAAGACCCCATCAC ACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCATCACACCGTC CTGAAGACCCCCACATACCCTCGTAAAGACCCCCATCACACCGTCCTGAA GACCCACACATACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCC ACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACA CTCGTAAAGACCCCCGTCATACCATCCTAAAGACCCCCACACACACTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCCACATACCCTCGTGAAGAT CCCCATCACACCATCCTAAAGACCCCCACACACACTCGTAGAGACCCCCA TCACACCATCCTAAAGACCCCACACACCCTCGTAAAGACCCCATCACACC GTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGA AGACCCCCACATACCCTCGTAAAGAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0201 a0005c0005t0002g0201	1	224	0.0045	575	c.225 others(594): Show c.2251+1785_2251+1786insGTCTTTACGAGGGTATGTGGGGGTCT TCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGAC GGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTTAGGATGGTGTGA TGGGGGTCTCTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGG ATCTTCACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTT ACGAGTGTGTGTGGGGGTCTTTAGGATGGTATGACGGGGGTCTTTACGAG TGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGT GGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGTGGGTC TTCAGGACGGTGTGATGGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAG GACGGTGTGATGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGT GTGATGGGGTCTTTACGAGGGTATGTGTGGGTCTTCAGGACGGTGTGATG GGGGTCTTTACGAGGGTATGTGTGGGTCTTCAGGACGGTGTGATGGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870274	A A	ACACCCCA others(568): Show ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACACCCCACACACACCACACACCCCCCACACACCACACCCCATACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCAC ACACCCCACACACACCACACCCCATACACACCACACACACCACACACCCC ACACACACCACACCCCACACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACACCACACCCCATACACACCACACCCCACAC ACCCCCCACACACCACACCCCATACACACCACACCCCACACACCCCCCAC ACACCACACCCCATACACACCACACCCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCATACACACCACACCCCACACA CACCACACCCCACACACACCACACCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	338	0.0030	575	c.35 others(594): Show c.35+21544_*35+21545insCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACACCCCCCACA CACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCATACACA CCACACACACCACACACCCCACACACACCACACCCCACACACCCCACACA CACCACACCCCATACACACCACACCCCACACACACCACACACCACACCCC ATACACACCACACCCCACACACCCCCCACACACCACACCCCATACACACC ACACCCCACACACCCCCCACACACCACACCCCATACACACCACACCCCCA CACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCA TACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870316	C C	CACCACAC others(568): Show CACCACACACACACATCACATACCACACACCCGACACACGCCACACACAC ACCATACACCCCCCACACACCACACCCCACACACCATACACACCACACAC CCCACACACACCACACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCACACACACCACACACCCCACACACACCAC ACAAACCACACACCCCACACACACCACACACACCACACACCCCACACACA CCACACCCCATACACACCACACCCCACACACACCACACACCCCACACACA CCACACACCCCACACACACCACACAAACCACACACCCCACACACACCACA CACACCACACACCCCACACACACCACACCCCATACACACCACACCCCACA CACACCACACACCCCACACACACCACACACACCACACCCCACACACACCA CACACACCACAGCCCACACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACAAACCACACACACCACACACCCCACACAC ACCACACAAACCACACACACCACACA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0307	1	338	0.0030	575	c.35 others(594): Show c.35+21583_*35+21584insACCACACACACACATCACATACCACA CACCCGACACACGCCACACACACACCATACACCCCCCACACACCACACCC CACACACCATACACACCACACACCCCACACACACCACACACCCCACACAC ACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACAC ACCACACACCCCACACACACCACACAAACCACACACCCCACACACACCAC ACACACCACACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACACCCCACACACACCACACAAA CCACACACCCCACACACACCACACACACCACACACCCCACACACACCACA CCCCATACACACCACACCCCACACACACCACACACCCCACACACACCACA CACACCACACCCCACACACACCACACACACCACAGCCCACACACCCCACA CACACCACACCCCACACACACCACACACCCCACACACACCACACAAACCA CACACACCACACACCCCACACACACCACACAAACCACACACACCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
ULK1_chr12_131889622_131928150	131917144	G G	GTCGGGTT others(568): Show GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGG CTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	344	0.0029	575	c.218 others(590): Show c.2182+86_2182+87insGTTCGGCTCGGAGGCTGTGGGATGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA TGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGAGGCT others(568): Show CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGT GGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGG CTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGT GGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGC TGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGACGGGGGTCGGGTTCGGCTTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0321 a0001c0003t0005g0321	1	344	0.0029	575	c.218 others(592): Show c.2182+158_2182+159insGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGG CTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGT GGGACGGGGGTCGGGTTCGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA CGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTG GGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGACGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCG GAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTTGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(568): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTATATAT TTAGTTTATAAATATATATTTATTTATTTAGTTTATAAATATATATTTAT TTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTAT TTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTACATAT TTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTAC ATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0229 a0001c0001t0041g0229	1	250	0.0040	575	c.82+ others(590): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGT TTATAAATATATATTTATTTATTTAGTTTATAAATATATATTTATTTAGT TTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATATT TAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTATA TATTTAGTTTATAAATATATATTTATATATTTAATTTATAGATAAATATA TATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTAT ATATTTAATTTATAGATAAATATATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(568): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAG TTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAG TTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAG TTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATAT TTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0230 a0001c0001t0024g0230	1	250	0.0040	575	c.82+ others(590): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAT ATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTAT AAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAGTTTAT AAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTAT AAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTAT AAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGT TTATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATATT TAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATA TATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VCX2_chrX_8164944_8176267	8169829	T T	TCCCTCCC others(568): Show TCCCTCCCCACACACCTCTTCCTCCCTCCCCCACACACCACCTCTTCCTC CCTCCCTCCCTCCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTC CCCACACACCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCAC ACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTC CCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCT TCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTC CCCACACACCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCT CTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCC TCCCTCCCCACACACCACCTCTTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0022 a0022	a0022c0018 a0022c0018	a0022c0018t0001 a0022c0018t0001	a0022c0018t0001g0032 a0022c0018t0001g0032	1	115	0.0087	575	c.20 others(584): Show c.202_*203insGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGGAGGGAGGAAGAGGTGTGTGGGGAGGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		114		chrX	TogoVar
VPS53_chr17_503668_719839	595587	G G	GTTTGATG others(568): Show GTTTGATGATGCACTCTAGTGCCCCGCCCTGGAGGAAGCTGGGAGATGGG AAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAGTGTCCCCC TGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTCGTTTGA TGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTC TGGACCAATTTCCTCGTTTGATGATGCACTCTAGTGTCCCCCTGGAGGAA GCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTCGTTTGATGATGCAC TCTAGTGCCCTGCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATC AATTTCCTGATTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGG AGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAGT GTCCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCC TGGTTTGATGATGCACTCTAGTGCCCTGCCCTCGAGGAAGCTGGGAGATG GGAAGGGGTCTGGATCAATTTCCTGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0138 a0001c0001t0122 a0001c0001t0138	a0001c0001t0122g0160 a0001c0001t0138g0161 a0001c0001t0122g0160 a0001c0001t0138g0161	2	232	0.0086	575	c.121 others(594): Show c.1218+6207_1218+6208insTCAGGAAATTGATCCAGACCCCTTCC CATCTCCCAGCTTCCTCGAGGGCAGGGCACTAGAGTGCATCATCAAACCA GGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGGAC ACTAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCCCTTCCCATCT CCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAATCAGGAAATT GATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGCAGGGCACTAGA GTGCATCATCAAACGAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGC TTCCTCCAGGGGGACACTAGAGTGCATCATCAAACGAGGAAATTGGTCCA GACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCA TCAAACGAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCA GGGGGACACTAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCCCTT CCCATCTCCCAGCTTCCTCCAGGGCGGGGCACTAGAGTGCATCATCAAA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(568): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCT CCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCT CCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCT CCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCT CCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	246	0.0041	575	c.53- others(588): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC CCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCT CCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCT CCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCT CCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCT CCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(568): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATTATATATATTATATATTATAAATAATATATTAT ATATTATATTATATATTATAAATAATATATTATATATTATGTTATATATT ATAAATAATATATTATATATTATATTATAAATAATATATTATATATTATA AATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	302	0.0033	575	c.-1- others(592): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATTATATATATTATATATT ATAAATAATATATTATATATTATATTATATATTATAAATAATATATTATA TATTATGTTATATATTATAAATAATATATTATATATTATATTATAAATAA TATATTATATATTATAAATAATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GTGATATA others(568): Show GTGATATATATCATATATATCAAATATATGATATATATCATATATGTGAT ATATATCACATATGTGATATATATCATATCACATATCATATGACATATCA TATCACATATCACATATCACATATCACATATCACATATCATATGATATAT ATCACATGTGATATATAGCATATGTGATATATATCATATATATCACATGT GATATATAGCATATGTGATATATATCATATATATCACATATGCTATATAG CATATGTGATATATATCATATATATCACATATGCTATATAGCATACGTGA TATATATCATATATATCATATATGATGTATAGCATGATATATATGCTATA TATCACATGTGATATATAGCATATATATCACATGTGATATATAGCATATA TATCACATGTGATATATAGCATATATATCACATGTGATATATAGCATATA TATCACATGTGATATATAGCATATATATCACATGTGATATATAGCATATG TGATATATATGATATATGTGATATATATCACATGTGATATATATGATATA TATCACATATATATGATATATATCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	350	0.0029	575	c.-35 others(586): Show c.-3503_-3502insTGATATATATCATATATATCAAATATATGATATA TATCATATATGTGATATATATCACATATGTGATATATATCATATCACATA TCATATGACATATCATATCACATATCACATATCACATATCACATATCACA TATCATATGATATATATCACATGTGATATATAGCATATGTGATATATATC ATATATATCACATGTGATATATAGCATATGTGATATATATCATATATATC ACATATGCTATATAGCATATGTGATATATATCATATATATCACATATGCT ATATAGCATACGTGATATATATCATATATATCATATATGATGTATAGCAT GATATATATGCTATATATCACATGTGATATATAGCATATATATCACATGT GATATATAGCATATATATCACATGTGATATATAGCATATATATCACATGT GATATATAGCATATATATCACATGTGATATATAGCATATATATCACATGT GATATATAGCATATGTGATATATATGATATATGTGATATATATCACATGT GATATATATGATATATATCACATATATATGATATATATCAC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(568): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TACATGTATATATACGTACGTATATATACATGTATATATACGTACGTATA TATACACATATATACATGTGTATATATGTGTATATATACACATATATACA TGTGTATATATGTGTATATATACACATATATACATGTATATATATATACG TATATATACATATATACGTATATATATATACGTATATACACATATATACA TGTATATATATATACGTATATACACATATATATACATGTATATATATATA CGTATATACACATATATATACATGTATATATATATATGTGTATATATACA TGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	383	0.0026	575	c.-42 others(586): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATACATGTATATATACGTACGTATATATACATGTAT ATATACGTACGTATATATACACATATATACATGTGTATATATGTGTATAT ATACACATATATACATGTGTATATATGTGTATATATACACATATATACAT GTATATATATATACGTATATATACATATATACGTATATATATATACGTAT ATACACATATATACATGTATATATATATACGTATATACACATATATATAC ATGTATATATATATACGTATATACACATATATATACATGTATATATATAT ATGTGTATATATACATGTATATATACATATATATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(568): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TACATGTATATATACGTACGTATATATACATGTATATATACGTACGTATA TATACACATATATACATGTGTATATATGTGTATATATACACATATATACA TGTGTATATATGTGTATATATACACATATATACATGTATATATATATACG TATATATACATATATACGTATATATATATACGTATATATACATATATACA TGTATATATATATACGTATATACACATATATATACATGTATATATATATA CGTATATACACATATATATACATGTATATATATATATGTGTATATATACA TGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	383	0.0026	575	c.-42 others(586): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATACATGTATATATACGTACGTATATATACATGTAT ATATACGTACGTATATATACACATATATACATGTGTATATATGTGTATAT ATACACATATATACATGTGTATATATGTGTATATATACACATATATACAT GTATATATATATACGTATATATACATATATACGTATATATATATACGTAT ATATACATATATACATGTATATATATATACGTATATACACATATATATAC ATGTATATATATATACGTATATACACATATATATACATGTATATATATAT ATGTGTATATATACATGTATATATACATATATATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(568): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TATACGTATATATACACATATATACATGTATATATACATGTATATATACG TACGTATATATACATGTATATATACGTACGTATATATACACATATATACA TGTGTATATATGTGTATATATACACATATATACATGTATATATATATACG TATATATACATATATACGTATATATATATACGTATATATACATATATACA TGTATATATATATACGTATATACACATATATATACATGTATATATATATA CGTATATACACATATATATACATGTATATATATATATGTGTATATATACA TGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03942.hp1 HG03704.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0090 a0001c0001t0001g0100	2	383	0.0052	575	c.-42 others(586): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATATACGTATATATACACATATATACATGTATATAT ACATGTATATATACGTACGTATATATACATGTATATATACGTACGTATAT ATACACATATATACATGTGTATATATGTGTATATATACACATATATACAT GTATATATATATACGTATATATACATATATACGTATATATATATACGTAT ATATACATATATACATGTATATATATATACGTATATACACATATATATAC ATGTATATATATATACGTATATACACATATATATACATGTATATATATAT ATGTGTATATATACATGTATATATACATATATATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar

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Search Results (Total: 10000 hits)