Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
JAKMIP3_chr10_132060946_132189858	132173111	C C	CCTCCTTC others(705): Show CCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCT TCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCCTCCCCCTCC TTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCC CCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCC TCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCTCCCCCCTCTCTCT CCCCCTCCCCCCTCCCCCTCTCTCCCCTCCCCCTCCCCTCTCTCCCCCTC CCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCCCCTCTCCCCCTCCCCTC CCCCCTCTCTCTCCCCCTCTCTCTCCCCCTTCCCTCCCCCCTCTCCCCCT CCCCCTCCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCGTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCATCCCCATCCCCCTCCTTCCCTCTCCCCCTC CCCCATCCCCATCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCT CCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCT CCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCC TTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCT TCCCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	158	0.0063	712	c.11 others(733): Show c.1103+4082_*1103+4083insTTCCCTCTCTCTCTCCCCCTCCTT CCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCT CTCTCTCCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCT TCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTC CCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTC TCTCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCCCCCTCTCTCCCCTC CCCCTCCCCTCTCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCCCCCTCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTCTCTCCCCC TTCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCATCC CCCTCCCCCGTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCATCCCCATCC CCCTCCTTCCCTCTCCCCCTCCCCCATCCCCATCCCCCTCCTTCCCTCTC CCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCC CTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCT TCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTC CCTCTGTCTCTCTCCCCCCCTTCCCTCTCTCTCTCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF26B_chr1_245149985_245714432	245443848	C C	CTCACTGT others(705): Show CTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTC ATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTA GAGCGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTT CACCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGTGGTCATCTCCCTC ACTGTTCACCTAGAGGAGAGGTCATCTCCTTCACTGTTCACCCTGCAGTC ATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCTAGA GCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTT CACCTAGAGCGGTCATCTCCCTCACCGTTCACCCTGCGGTCATCTCCCTC ACCGTTCACCCTGTGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTC CCTCACTGTTCACCTAGAGCGGTCATCTCCCTTACTGTTCACCTAGAGCG GTCATCTCCCTCACTGTTCACCTAGAGGAGAGGTCATCTCCTTCACTGTT CACCCTGCGGTCATCTCCCTCACTGTTCACCCTGCAGTCATCTCCCTCAC TGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTC CCTTACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGGA GAGGTCATCTCCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp1 HG01981.hp2 others(6): Show HG01261.hp1 HG01884.hp1 HG01981.hp2 HG02257.hp1 HG02809.hp2 HG02897.hp2 HG03540.hp2 NA18522.hp2 NA19240.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0018 a0021	a0001c0001 a0002c0003 a0002c0008 others(4): Show a0001c0001 a0002c0003 a0002c0008 a0004c0011 a0004c0019 a0018c0043 a0021c0059	a0001c0001t0008 a0001c0001t0016 a0001c0001t0087 others(6): Show a0001c0001t0008 a0001c0001t0016 a0001c0001t0087 a0002c0003t0022 a0002c0008t0006 a0004c0011t0032 a0004c0019t0058 a0018c0043t0039 a0021c0059t0011	a0001c0001t0008g0052 a0001c0001t0016g0097 a0001c0001t0087g0087 others(6): Show a0001c0001t0008g0052 a0001c0001t0016g0097 a0001c0001t0087g0087 a0002c0003t0022g0155 a0002c0008t0006g0095 a0004c0011t0032g0134 a0004c0019t0058g0111 a0018c0043t0039g0133 a0021c0059t0011g0082	9	160	0.0563	712	c.116 others(733): Show c.1166+24142_1166+24143insTAGAGCGGTCATCTCCCTCACTGT TCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCC CTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCCTGCGGTCAT CTCCCTCACTGTTCACCTAGAGTGGTCATCTCCCTCACTGTTCACCTAGA GGAGAGGTCATCTCCTTCACTGTTCACCCTGCAGTCATCTCCCTCACTGT TCACCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCT CACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTC ATCTCCCTCACCGTTCACCCTGCGGTCATCTCCCTCACCGTTCACCCTGT GGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACC TAGAGCGGTCATCTCCCTTACTGTTCACCTAGAGCGGTCATCTCCCTCAC TGTTCACCTAGAGGAGAGGTCATCTCCTTCACTGTTCACCCTGCGGTCAT CTCCCTCACTGTTCACCCTGCAGTCATCTCCCTCACTGTTCACCCTGCGG TCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTTACTGTTCACC TAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGGAGAGGTCATCTCCTT CACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACC	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(705): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCTC CTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCTCTCCCTC TCCCTCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCTCCTCTCCCTCCCTCTCTCCCTCACTCTCCCTCTCCCTC ACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	370	0.0027	712	c.-27 others(723): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGAGGGAGGGAGAGGAGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGAGGGAGAGGGAGAGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(705): Show GGAAAAAGGAAGGAAGGGAGGGAGGGAGGGGAGGGAAGGAAGGGAGGGGA GGGAGGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGA AGGGAGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGA AGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAG GAGGGAAGGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGA AGCAGGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGAGGG GAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAG GGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGA AGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGG AAGAAAGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAG AAAGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAA GAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAA AGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGGAGG AAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAA GGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0002 a0008c0016t0002	a0008c0016t0002g0023 a0008c0016t0002g0023	1	88	0.0114	712	c.507 others(731): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGGAGGGAGGGAG GGGAGGGAAGGAAGGGAGGGGAGGGAGGAAAAAGGAAGGAAGGAAGGAGG GTAAGGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGA AGGGAGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGA GGGAAGAAGGGAGGAAGGGAAGGAGGGAAGGTGGAAGGAAGGAAGGAAAA GAAGGAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGA ACAGAAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGG AAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAG GGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGA GGGAGGAAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGA AGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGAAGG AAGGAACAAAGGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGAAGGAAG GAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAG GAAAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGG AAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA5_chr20_62304065_62372312	62349805	T T	TGGTGGGG others(705): Show TGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGGCGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGG GGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGGGGGTGGGG GTGGGGGTGGGGGTGAGGGTGATGATGGTGGGGGTGATGATGGTGATGGT GGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGG GGGTGGGGGTGATGACGGTGATGATGGTGGGGGTAATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGGTGA TGACGATGATGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGACG GTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTG GGGGTGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGATGGT GATGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGTGG GGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0168 a0001c0015t0001g0168	1	186	0.0054	712	c.956 others(729): Show c.956+1898_956+1899insCCCACCCCCACCCCCACCATCACCCCCA CCATCATCACCCTCACCATCATCACCCCCACCATCACCATCATCACCCCC ACCCCCACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCTC TACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCA CCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATC ACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCAC CGCCATCACCGTCATCACCCCCACCATCATCGTCATCACCCCCCACCATC ACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCAT TACCCCCACCATCATCACCGTCATCACCCCCACCCCCACCCCCACCATCA CCCCCACCATCATCACCCTCACCATCATCACCCCCACCATCACCATCATC ACCCCCACCATCATCACCCTCACCCCCACCCCCACCCCCACCCCCACCAT CATCACCTCTACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCC CCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGCCAT CACCCCCACCGCCATCACCGTCATCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LHFPL3_chr7_104323603_104913561	104824186	T T	TATATATA others(705): Show TATATATATTATATATTATATATTATATATATAATATATATATTATATAT TATATATATAATATATATATTATATATTATATATATAATATATATTATAT ATTATATATATAATATATATTATATATTATATATAATATATTATATATTA TATATATAATATATTATATATTATATATATAATATATTATATATTATATA TATAATATATTATATATTATATATTATATATATATTATATTATATATTAT ATATAATTATATATATTTTATATATTATATATTATATATTATATATTATA TATTATATATATTATATATTATATATTATATATTATATATATTATATATT ATATATACAATTATATATATTATATATATTATATATTATATAATATATTA TATATATAATATATATTATATATTATATATTATATAATATATTATATATA TAATATATTATATATTATATATTATATAATATATTATATATTATATATAT TATATATTATATATTATATATTATATATATAATATATATTATATATTATA TATTATATATATTATATATATTATATATATTATATATAATATATATAATT GTATATATAATATATAATATATAATATATATAATATATAATATATAATAT ATAATATATAATATATAATATATATAATATATTATATATAATATATAATA TATAATATATATA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	86	0.0116	712	c.683 others(731): Show c.683-81995_683-81994insATTATATATTATATATTATATATATA ATATATATATTATATATTATATATATAATATATATATTATATATTATATA TATAATATATATTATATATTATATATATAATATATATTATATATTATATA TAATATATTATATATTATATATATAATATATTATATATTATATATATAAT ATATTATATATTATATATATAATATATTATATATTATATATTATATATAT ATTATATTATATATTATATATAATTATATATATTTTATATATTATATATT ATATATTATATATTATATATTATATATATTATATATTATATATTATATAT TATATATATTATATATTATATATACAATTATATATATTATATATATTATA TATTATATAATATATTATATATATAATATATATTATATATTATATATTAT ATAATATATTATATATATAATATATTATATATTATATATTATATAATATA TTATATATTATATATATTATATATTATATATTATATATTATATATATAAT ATATATTATATATTATATATTATATATATTATATATATTATATATATTAT ATATAATATATATAATTGTATATATAATATATAATATATAATATATATAA TATATAATATATAATATATAATATATAATATATAATATATATAATATATT ATATATAATATATAATATATAATATATATAATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACCCTT others(705): Show CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCAC ACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACGCTTAC ATCTACCTCCACACCCACAATTACACCCACACTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTCACACCCACCCACACTCACACCCACCC ACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCAC ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAATTACAC CCACACTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCAC ACCCACCCACACTCACACCCACCCACACTTACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0273 a0001c0002t0004g0273	1	290	0.0035	712	c.129 others(729): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTT ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAC TTACACCCACGCTTACATCTACCTCCACACCCACAATTACACCCACACTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACCC ACACTCACACCCACCCACACTTACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGC TTACATCTACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCACAATTACACCCACACTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTCACACCCACCCACACTCACACCCACCCACACTTACAC CCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(705): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGC GGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGA TCACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCG TCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTA ATCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCA TAGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCA ATAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAG CCCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATG AAGAGCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGC CTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAT TACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGA CAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGA TCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	418	0.0024	712	c.23 others(723): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTG GCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAG TCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGC CTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCC AGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTTT TTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCA TGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(705): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGAT CACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGT CTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAA TCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCAT AGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAA TAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAG CCCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATG AAGAGCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGC CTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAT TACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGA CAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGA TCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	418	0.0024	712	c.23 others(723): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGA GTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGC CAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTT TTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCA TGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(705): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGAT CACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGT CTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAA TCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCAT AGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAA TAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGC CCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGA AGAGCTCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGC CTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAT TACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGA CAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGA TCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG03669.hp2 NA19030.hp2 HG02257.hp2 HG03669.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0078 a0001c0001t0005 a0001c0001t0078	a0001c0001t0005g0166 a0001c0001t0005g0217 a0001c0001t0078g0097 a0001c0001t0005g0166 a0001c0001t0005g0217 a0001c0001t0078g0097	3	418	0.0072	712	c.23 others(723): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGA GTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGC CAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTT TTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCA TGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(705): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGG TGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATC ACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTC TCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAAT CCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATA GGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAAT AGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAG CCCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATG AAGAGCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGC CTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAT TACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGA CAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGA TCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0143 a0001c0001t0077g0143	1	418	0.0024	712	c.23 others(723): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCA TGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(705): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGG TGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATC ACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTC TCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAAT CCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATA GGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAAT AGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGC CCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGA AGAGCTCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGC CTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAT TACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGA CAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGA TCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0007	1	418	0.0024	712	c.23 others(723): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCA TGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(705): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGG TGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATC ACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTC TCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAAT CCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATA GGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAAT AGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCC CTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAA GAGCTCAGCTTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGC CTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAT TACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGA CAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGA TCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 NA18960.hp1 NA18961.hp1 HG03688.hp1 NA18960.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0004 a0001c0009t0005 a0001c0001t0004 a0001c0009t0005	a0001c0001t0004g0036 a0001c0001t0004g0093 a0001c0009t0005g0164 a0001c0001t0004g0036 a0001c0001t0004g0093 a0001c0009t0005g0164	3	418	0.0072	712	c.23 others(723): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCAT TCCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCA TGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(705): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTTAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGAT CACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGT CTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAA TCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCAT AGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAA TAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGC CCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGA AGAGCTCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGC CTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAT TACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGA CAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGA TCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	418	0.0024	712	c.23 others(723): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGA GTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGC CAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTT TTTTTTTTTTTTTTTTTAAAGACAGGATATCAGCCGGATGCAGTGGCTCA TGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(705): Show TCTGCTCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTT CCCTCCCCTCCTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCT CCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCC CTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCCCCTCTCCCCT CCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTC CCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCT CCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0038 a0002c0008t0001g0038	1	140	0.0071	712	c.114 others(731): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCCCTCCCCTCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCT CTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCT CCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCC TCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCT CCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCC CCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTC CTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCC CATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(705): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCAAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCG CCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01255.hp2 HG03492.hp1 HG01081.hp2 HG01255.hp2 HG03492.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0022 a0001c0004 a0001c0006 a0001c0022	a0001c0004t0001 a0001c0006t0001 a0001c0022t0001 a0001c0004t0001 a0001c0006t0001 a0001c0022t0001	a0001c0004t0001g0227 a0001c0006t0001g0244 a0001c0022t0001g0245 a0001c0004t0001g0227 a0001c0006t0001g0244 a0001c0022t0001g0245	3	256	0.0117	712	c.241 others(731): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGGC GGGGGGGCTGACCCCCCCCCCACCTCCCTCCTTGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGG CCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(705): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCG CCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0146 a0001c0004t0001g0146	1	256	0.0039	712	c.241 others(731): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGGC GGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGG CCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(705): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCGC CCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0118 a0001c0006t0001g0118	1	256	0.0039	712	c.241 others(731): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGG CCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
NEU4_chr2_241804193_241822413	241805963	T T	TCCGCAGG others(705): Show TCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCA GGGACCTCCGCAGGCCACCCTCCCTCCTCCCTCAACCCAGGGACCTCTGC AGGCCTCCCTCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCTCAACCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGAACCTCTGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCTCCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCTCAACCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGAACCTCTGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	319	0.0031	712	c.-33 others(723): Show c.-3315_-3314insCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCC TCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCTCAA CCCAGGGACCTCTGCAGGCCTCCCTCCCTCCCCCCTCAGCCCAGGAACCT CTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCC CTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG AACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCTCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAA CCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCAC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3229		chr2	TogoVar
NLRP8_chr19_55942832_55993629	55993520	C C	CCCCTCCC others(705): Show CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCC CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0000 a0000	a0000c0001 a0000c0001	a0000c0001t0017 a0000c0001t0017	a0000c0001t0017g0105 a0000c0001t0017g0105	1	350	0.0029	712	c.56 others(723): Show c.5607_*5608insCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4892		chr19	TogoVar
ODF3_chr11_191761_205258	196508	A A	ACCTGGTG others(705): Show ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACC TTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGA CCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG ACATGGGGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	388	0.0026	712	c.-54 others(721): Show c.-547_-546insCCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGG AGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGG GGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGT GAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACAT GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTT GGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACC TGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGA CATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGAC CTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATGGGGGGGAC	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		252		chr11	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(705): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	436	0.0023	712	c.-26 others(723): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGA TACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA GATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(705): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	712	c.-26 others(723): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGA TACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA GATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(705): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	712	c.-26 others(723): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGA TACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA GATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(705): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	712	c.-26 others(723): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGA TACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA GATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCGF3_chr4_700832_775089	716525	T T	TGTCGGTG others(705): Show TGTCGGTGCTGGGACCCTGTGGACACTGAGTGTGAGAACTGGGTGTCGGT GCTGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGA CCCTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTG TGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGAC ACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGA GTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAG AACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTG GGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGT CGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTG CTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGG ACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCT GTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGA CACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTG CGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGT GTGAGAACTGGGC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	366	0.0027	712	c.-19 others(733): Show c.-190+10582_-190+10583insAGTGTGAGAACTGGGTGTCGGTGC TGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACC CTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTG GACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACAC TGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGAGT GTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGAA CTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGG CGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCG GTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCT GGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGAC CCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGT GGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACA CTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCG AGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGT GAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	716525	T T	TGTCGGTG others(705): Show TGTCGGTGCTGGGACCCTGTGGACACTGAGTGTGAGAACTGGGTGTCGGT GCTGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGA CCCTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTG TGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGAC ACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGA GTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAG AACTGGGCGTTGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTG GGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGT CGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTG CTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGG ACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCT GTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGA CACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTG CGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGT GTGAGAACTGGGC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0058 a0002c0002t0003g0058	1	366	0.0027	712	c.-19 others(733): Show c.-190+10582_-190+10583insAGTGTGAGAACTGGGTGTCGGTGC TGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACC CTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTG GACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACAC TGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGAGT GTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGAA CTGGGCGTTGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGG CGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCG GTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCT GGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGAC CCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGT GGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACA CTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCG AGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGT GAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(705): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCACCACCATCACCAT CACCATCACCACCACCACCATCACCACCAGCACCACCAGCACCACCACCA TCAACATCATCATCATCACCACCATCACCACCATCATCACCACCACCGTC ATCACCACCAGCACCACCATCACCACCACCATCACCACCATCTCACCATC ATCACCATCACCACCATCATCACCACCACCATCACCACCACCATCACCAT CACCATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCAC CACCACCATCACCACCATCACCATCACCACCACCACCATCATCACCACCA TCACCACCAGCACCACCACTATCAACATCACCATCACCACCATCATCATC ACCACCATCACCACCACCACCACCACCATCATCACCATCACCACCAGCAC CACCACCAACATCATCATCATCACCATCACCACCACCATCACCACCACCA CCACCATCAACACCACCATCACCACCACCATCATCATCACCACCACCACC ATCACCACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0026 a0002c0021t0026	a0002c0021t0026g0296 a0002c0021t0026g0296	1	322	0.0031	712	c.48 others(723): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGATGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATGGT GATGTTGATAGTGGTGGTGCTGGTGGTGATGGTGGTGATGATGGTGGTGG TGGTGATGGTGATGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTG ATGGTGAGATGGTGGTGATGGTGATGGTGATGGTGATGGTGGTGGTGATG GTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGAGATGGTGGTGATG GTGGTGGTGATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGT GGTGATGGTGGTGATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGC TGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATG GTGGTGGTGATGGTGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTG GTGATGGTGATGATGATGGTGGTGGTGATGGTGAGATGGTGGTGATGGTG GTGGTGGTGGTTATGGTGGTGGTGGTGGTGATGATGGTGATGATGATGGT GTTGATGATGGTGATGATGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(705): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCT GCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCT CCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0222 a0001c0001t0006g0222	1	250	0.0040	712	c.309 others(731): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCT CCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT GCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT TCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB11FIP3_chr16_420649_528011	492455	T T	TCCCCGGG others(705): Show TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	295	0.0034	712	c.126 others(731): Show c.1265+3455_1265+3456insCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RFC1_chr4_39282456_39371362	39348470	A A	AAAAGAAA others(705): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	276	0.0036	712	c.132 others(729): Show c.132+2877_132+2878insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFX2_chr19_5988164_6115500	6070181	A A	ATGGGATG others(705): Show ATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGG GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGA TGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGTGGATAGGGTGGGATGAAACGTGGATGGGATGGAAAGGGATGTG GATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGAA TAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGGAAAGG GATGTGGATGGAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	308	0.0033	712	c.-8- others(729): Show c.-8-22678_-8-22677insCTCCATCCACATCCCTTTCCATCCCATC CACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCC CATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCAT CCCATCCACGTTTCATCCCACCCTATCCACATCCCATCCCATCCACATCC CATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATC CCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCA TCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCC CATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCATC CCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCCA TCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATCC ACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTCA TTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATCC CATCCCATCTACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCACATCCCATCCCA	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070181	A A	ATGGGATG others(705): Show ATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGG GATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATGTGGAT GGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGGGTGGG ATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGATG TGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATAGA GTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATAGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGG ATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGTGGATAGGGTGGGATGAAACGTGGATGGGATGGAAAGGG ATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGAA TAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGGAAAGG GATGTGGATGGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19030.hp2 HG02451.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0010 a0001c0001t0003g0009 a0001c0001t0001g0010 a0001c0001t0003g0009	2	308	0.0065	712	c.-8- others(729): Show c.-8-22678_-8-22677insCTCCATCCACATCCCTTTCCATCCCATC CACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACGTTTCATCCCACCCTATCCACATCCCATCCCATCCACATCCCATCC CATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCC ACATCCCATCCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCA TCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCA CATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATC CCATCCCATCCCATCCACATCCCATCCCATCCCACTCTATCCACATCCCT TTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCC CATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACA TCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTC CATCCCATCCCATCTACATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCACATCCCATCCCA	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RTN1_chr14_59590983_59875776	59750553	A A	ATATATCT others(705): Show ATATATCTATAATATATATATCTATAATATATAATATATCTATAATATAT ATATCTATAATATATAATATATCTATAATATATATATCTATAATATATAA TATATCTATAATATATATATCTATAATATATAATATATCTATAATATATA TATCTATAATATATAATATATCTATAATATATATATTATATCTATAATAT ATAATATATCTATAATATATATAATATATCTATAATATATATATTATATC TATAATATATAATATATCTATAATATATATATTATATCTATAATATATAA TATATCTATAATATATAATATATCTATAATATATATATTATAGATATAAT ATATAATATATCTATAATATATATATTATATATAATATATAATATATTAT ATATAATATATAATATATTATATATATAATATATAATATATTATATCTAT AATATATTATATGTAATATATATATGTTATATCTATAATATATATTATAT CTATAATATATAATATATTATATCTATAAATATAATATATTATATCTATA ATATATTATATATTATATCTATAATATATAATATATTATATCTATAAATA TAATATATTATATCTATAATATATAATATATTATAATATATATATTATAT CTATAAATATAATATATATTATATCTATAATATATATATTATATCTATAA ATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0040 a0003c0004t0001g0040	1	172	0.0058	712	c.242 others(729): Show c.242-4073_242-4072insATATATATTATATTTATAGATATAATAT ATATATTATAGATATAATATATATTATATTTATAGATATAATATATATAT TATAATATATTATATATTATAGATATAATATATTATATTTATAGATATAA TATATTATATATTATAGATATAATATATAATATATTATAGATATAATATA TTATATTTATAGATATAATATATTATATATTATAGATATAATATATATTA TAGATATAACATATATATATTACATATAATATATTATAGATATAATATAT TATATATTATATATATAATATATTATATATTATATATAATATATTATATA TTATATATAATATATATATTATAGATATATTATATATTATATCTATAATA TATATATTATAGATATATTATATATTATAGATATATTATATATTATAGAT ATAATATATATATTATAGATATATTATATATTATAGATATAATATATATA TTATAGATATATTATATATATTATAGATATATTATATATTATAGATATAA TATATATATTATAGATATATTATATATTATAGATATATATATTATAGATA TATTATATATTATAGATATATATATTATAGATATATTATATATTATAGAT ATATATATTATAGATATATTATATATTATAGATATATATATTATAGATAT ATTATATATTATAGATATATATATTATAGATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SCGB1C1_chr11_188078_199575	196508	A A	ACCTGGTG others(705): Show ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACC TTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGA CCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG ACATGGGGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	354	0.0028	712	c.20 others(723): Show c.2058_*2059insCCTGGTGAGGGGACATGGGGGGGACCTTGGTGAG GGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGAC ATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACC TTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGA CCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACATGGGGGGGAC	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1934		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43339818	T T	TTCTATCC others(705): Show TTCTATCCCCCCACAAGCATCGCTCCAACCCTCCCCCCACTCTCCTCATT CTATCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCT ATCCCCCCACAAGCATTGCTTCAACCCTCCCCCCACTCTCCTCATTCTAT CCCCCCACAAGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCC CCACAAGCATCGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCA CAAGCATCACTCCAGCCCTCCCCTACTCTCCTCACTATCCCCCCACAAGC ATCACTCCAGCCCTCCCCCACTCTCCTCATTCTACCCCCCCCAAGCATAG CTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTC CAACCCTCCCCCCACTCTCCTCATTCTACCCCCACCACAAGCATAGCTCC AACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCACAAGCACTGCTCCA ACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACC CTCCCCCCACTCTCCTCATTCTACCCCCACCACAAGCATAGCTCCAACCC TCCCCCCACTCTCCTCATTCTACCCCCCCCACAAGCACTGCTCCAACCCT CCCCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCC CTACTCTCCTCAC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0001 a0002c0027t0001	a0002c0027t0001g0253 a0002c0027t0001g0253	1	280	0.0036	712	c.89- others(725): Show c.89-584_89-583insGTGAGGAGAGTAGGGGAGGGTTGGAGCAATGC TTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTG TGGGGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGT GGTGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTG GGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGGG GGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGTGG GGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGG ATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAG AATGAGGAGAGTGGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGTGA GGAGAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGA GAGTAGGGGAGGGTTGGAGCGATGCTTGTGGGGGGTAGAATGAGGAGAGT GGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGATAGAATGAGGAGAGTGGG GGGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGG GAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGA GGGTTGGAGCGATGCTTGTGGGGGGATAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SDK1_chr7_3296252_4274000	4083690	T T	TTCCCTCC others(705): Show TTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCTT TACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCC CTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTT TACTTCCTCCCTTCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCC CTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTT TACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCC CTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTT TACTTCCTCCCTTCCTTCTTTACTTCCTCCCTCCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTTCCTTCTTTACT TCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCC CTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACT TCCTCCCTCCCTTCTTTACTTCCTCCCTTCCTTCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACT TCCTCTCTCCCTTCTTTACTTCCTCCCTTCCTTCTTTACTTCCTCCCTCC CTCCTTTACTTCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18522.hp1 HG03041.hp2 NA18522.hp1	a0001 a0001	a0001c0049 a0001c0061 a0001c0049 a0001c0061	a0001c0049t0036 a0001c0061t0031 a0001c0049t0036 a0001c0061t0031	a0001c0049t0036g0109 a0001c0061t0031g0100 a0001c0049t0036g0109 a0001c0061t0031g0100	2	116	0.0172	712	c.332 others(731): Show c.3324+4149_3324+4150insCTTCTTTACTTCCTCCCTCCCTCCTT TACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCC CTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCCTTCTT TACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCC CTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTT TACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCC CTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTTCCTTCTT TACTTCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTTCCTTCTTTACTTCCTCCCTCCCTCCTTTACT TCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCC CTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACT TCCTCCCTTCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACT TCCTCCCTTCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCC CTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(705): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCTTT AGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGCCC AGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTAGA CAAAATATTTTAATTGTGATGACATAAAGAAAAAAAGAAAATTAGAGTAA ATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTTGA GACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTCAG CTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTC TCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATTTT TGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCTTA ATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTTTTAAAAAATA CTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGTAG TCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0169 a0001c0002t0005g0169	1	358	0.0028	712	c.308 others(731): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAGGTAATATAAGTTGCAT AAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGC CCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTA GCAATGTAGACAAAATATTTTAATTGTGATGACATAAAGAAAAAAAGAAA ATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAAT TTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGC GTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCC TGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCC AGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAG GATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTT TTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATG TGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(705): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCTTT AGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGCCC AGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTAGA CAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAAATTAGAGTAA ATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTTGA GACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTCAG CTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTC TCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATTTT TGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCTTA ATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTTTTAAAAAATA CTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGTAG TCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	358	0.0028	712	c.308 others(731): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAGGTAATATAAGTTGCAT AAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGC CCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTA GCAATGTAGACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAA ATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAAT TTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGC GTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCC TGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCC AGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAG GATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTT TTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATG TGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(705): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCTTT AGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGCCC AGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTAGA CAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAAATTAGAGTAA ATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTTGA GACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTCAG CTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTC TCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATTTT TGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCTTA ATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCTGGTCTAAAAATAAAGTTTTAAAAAATA CTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGTAG TCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02647.hp2 HG02809.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18988.hp1 NA18989.hp2 NA18994.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19088.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0008 a0001c0010 others(2): Show a0001c0001 a0001c0008 a0001c0010 a0005c0012 a0006c0015	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(18): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0008t0036 a0001c0010t0001 a0005c0012t0001 a0006c0015t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0017 others(121): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0069 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0007g0191 a0001c0001t0007g0210 a0001c0001t0007g0211 a0001c0001t0007g0263 a0001c0001t0007g0279 a0001c0001t0008g0203 a0001c0001t0008g0262 a0001c0001t0008g0265 a0001c0001t0008g0291 a0001c0001t0011g0198 a0001c0001t0011g0199 a0001c0001t0012g0212 a0001c0001t0012g0270 a0001c0001t0012g0282 a0001c0001t0017g0255 a0001c0001t0017g0256 a0001c0001t0018g0275 a0001c0001t0018g0285 a0001c0001t0019g0216 a0001c0001t0019g0217 a0001c0001t0020g0331 a0001c0001t0020g0332 a0001c0001t0028g0239 a0001c0001t0029g0278 a0001c0001t0030g0189 a0001c0001t0031g0264 a0001c0001t0032g0296 a0001c0001t0033g0249 a0001c0001t0034g0221 a0001c0001t0035g0218 a0001c0008t0036g0068 a0001c0010t0001g0220 a0005c0012t0001g0014 a0006c0015t0001g0338	126	358	0.3520	712	c.308 others(731): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAGGTAATATAAGTTGCAT AAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGC CCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTA GCAATGTAGACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAA ATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAAT TTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGC GTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCC TGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCC AGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAG GATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGTCTAAAAATAAAGTT TTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATG TGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(705): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCTTT AGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGCCC AGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTAGA CAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAAATTAGAGTAA ATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTTGA GACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTCAG CTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGTC TCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATTTT TGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCTTA ATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTTTTAAAAAATA CTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGTAG TCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0145 a0001c0001t0040g0145	1	358	0.0028	712	c.308 others(731): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAGGTAATATAAGTTGCAT AAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGC CCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTA GCAATGTAGACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAA ATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAAT TTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGC GTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCC TGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCC AGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAG GATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTT TTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATG TGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(705): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCTTT AGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGCCT AGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTAGA CAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAAATTAGAGTAA ATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTTGA GACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTCAG CTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTC TCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATTTT TGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCTTA ATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCTGGTCTAAAAATAAAGTTTTAAAAAATA CTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGTAG TCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp1 HG03471.hp2 others(1): Show HG01884.hp1 HG02809.hp1 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0022 a0001c0001t0037 a0001c0001t0021 a0001c0001t0022 a0001c0001t0037	a0001c0001t0021g0156 a0001c0001t0022g0153 a0001c0001t0022g0154 others(1): Show a0001c0001t0021g0156 a0001c0001t0022g0153 a0001c0001t0022g0154 a0001c0001t0037g0346	4	358	0.0112	712	c.308 others(731): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAGGTAATATAAGTTGCAT AAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGC CCTTTGGCCTAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTA GCAATGTAGACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAA ATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAAT TTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGC GTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCC TGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCC AGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAG GATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGTCTAAAAATAAAGTT TTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATG TGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SNED1_chr2_240993618_241100568	241052693	G G	GCCAAGCA others(705): Show GCCAAGCAGGGTACATGGGACACCAGTGCGAGGCAGGTGAGATGGCCGGG GGGCTGAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGAGGGCCA GGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGATGGCC AGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGAGGGC CAGGGGGCCAAGCAGGGTATATGGGATACCAGTGCCAGGCAGGTGAGAGG GCCGGGGGGCCAAGCAGGGTACATGGGACACCGGTGTCAGGCAGGTGAGA GGGCCGGGGGGCCAAGCAGGGTACATGGGACACCAGTGCGAGGCAGGTGA GATGGCCGGGGGGCTGAGCAGGGTACATGGGATACCAGTGCCAGGCAGGT GAGAGGGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGG TGAGATGGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAG GTGAGAGGGCCGGGGGGCCAAGCAGGGTACATGGGACACCGGTGTCAGGC AGGTGAGAGGGTCAGGGGGGTCAAGCAGGGTACATGGGATACCAGTGCCA GGCAGGTGAGATGGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCC AGGCAGGTGAGATGGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGC CAGGCAGGTGAGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02155.hp1 HG02165.hp1 others(2): Show HG00621.hp2 HG02155.hp1 HG02165.hp1 NA18954.hp2 NA19062.hp1	a0001 a0002 a0020 a0001 a0002 a0020	a0001c0001 a0002c0003 a0020c0062 a0001c0001 a0002c0003 a0020c0062	a0001c0001t0002 a0002c0003t0010 a0002c0003t0013 others(1): Show a0001c0001t0002 a0002c0003t0010 a0002c0003t0013 a0020c0062t0005	a0001c0001t0002g0252 a0002c0003t0010g0260 a0002c0003t0013g0049 others(2): Show a0001c0001t0002g0252 a0002c0003t0010g0260 a0002c0003t0013g0049 a0002c0003t0013g0263 a0020c0062t0005g0262	5	344	0.0145	712	c.208 others(729): Show c.2083+225_2083+226insCCAAGCAGGGTACATGGGACACCAGTGC GAGGCAGGTGAGATGGCCGGGGGGCTGAGCAGGGTACATGGGATACCAGT GCCAGGCAGGTGAGAGGGCCAGGGCCCAAGCAGGGTACATGGGATACCAG TGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCAGGGTACATGGGATACCA GTGCCAGGCAGGTGAGAGGGCCAGGGGGCCAAGCAGGGTATATGGGATAC CAGTGCCAGGCAGGTGAGAGGGCCGGGGGGCCAAGCAGGGTACATGGGAC ACCGGTGTCAGGCAGGTGAGAGGGCCGGGGGGCCAAGCAGGGTACATGGG ACACCAGTGCGAGGCAGGTGAGATGGCCGGGGGGCTGAGCAGGGTACATG GGATACCAGTGCCAGGCAGGTGAGAGGGCCAGGGCCCAAGCAGGGTACAT GGGATACCAGTGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCAGGGTACA TGGGATACCAGTGCCAGGCAGGTGAGAGGGCCGGGGGGCCAAGCAGGGTA CATGGGACACCGGTGTCAGGCAGGTGAGAGGGTCAGGGGGGTCAAGCAGG GTACATGGGATACCAGTGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCAG GGTACATGGGATACCAGTGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCA GGGTACATGGGATACCAGTGCCAGGCAGGTGAGA	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	15/31			chr2	TogoVar
TAC1_chr7_97727086_97745472	97745310	A A	AAAATAAA others(705): Show AAAATAAAGGGATATTGTTCAATTCCCACCTATGAGTGAGATTATGCGGT GTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAAT TTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGC ATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCA TTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCC GCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTC CTTTGGGTATATACCCAGTAATGGGATGGCTGGGCCAAATGGTATTTCTA GTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACT AGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCC TCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCATGGACACAGG AAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGGAGGGGGG AGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGT GCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAAT GTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAGAAAGGA AAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02559.hp1 HG03516.hp2 others(1): Show HG00639.hp1 HG02559.hp1 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0002g0013 a0001c0001t0001g0007 a0001c0001t0002g0013	4	428	0.0094	712	c.53 others(723): Show c.5390_*5391insAAATAAAGGGATATTGTTCAATTCCCACCTATGA GTGAGATTATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGA ATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATC ATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCT TAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCT ATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCA GCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGC CAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTC CACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCC TATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGA TTGCATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGG TCGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGAT GACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAA AAAAAAAAGAAAGGAAAAAAAAAAAAAT	TAC1	ENSG00000006128.12	transcript	ENST00000319273.10	protein_coding		4839		chr7	TogoVar
TAC1_chr7_97727086_97745472	97745310	A A	AAAATAAA others(705): Show AAAATAAAGGGATATTGTTCAATTCCCACCTATGAGTGAGATTATGCGGT GTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAAT TTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGC ATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCA TTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCC GCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTC CTTTGGGTATATACCCAGTAATGGGATGGCTGGGCCAAATGGTATTTCTA GTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACT AGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCC TCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCATGGACACAGG AAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGGAGGGGGG AGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGT GCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAAT GTGCACATGTACTCTAAAACTTAGAGTATAATAAAAAAAAAAAGAAAGGA AAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18963.hp1 NA18980.hp1 others(4): Show NA18955.hp2 NA18963.hp1 NA18980.hp1 NA18982.hp1 NA18989.hp2 NA19079.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	7	428	0.0164	712	c.53 others(723): Show c.5390_*5391insAAATAAAGGGATATTGTTCAATTCCCACCTATGA GTGAGATTATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGA ATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATC ATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCT TAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCT ATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCA GCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGC CAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTC CACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCC TATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGA TTGCATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGG TCGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGAT GACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACTCTAAAACTTAGAGTATAATAAA AAAAAAAAGAAAGGAAAAAAAAAAAAAT	TAC1	ENSG00000006128.12	transcript	ENST00000319273.10	protein_coding		4839		chr7	TogoVar
TBC1D22A_chr22_46757650_47180693	46772609	T T	TATATATG others(705): Show TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATATGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACACATATACA TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	112	0.0089	712	c.62+ others(727): Show c.62+9766_62+9767insTGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACACATATACA TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATATGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(705): Show ATCTGGGATGTGAGGAGCACCTCTGCCCGGCCGCCCCGTCTGAGAGGTGA GGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGCGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCC CGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCG TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTC TGGGAGGTGGGGAGCGCCTCTGCCCGGTCGCCCCGTCTGGGATGTGGGGA GCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGGGGAGCGCCTCTGCCTG GCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGA CTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGG AGCGCCTCTGCCCGGCCGCCCTGTCTGAGAGGTGAGGAGCGCCTCTGCCT GGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18906.hp1 HG02630.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0020 a0001c0001t0013 a0001c0001t0020	a0001c0001t0013g0070 a0001c0001t0020g0005 a0001c0001t0013g0070 a0001c0001t0020g0005	2	94	0.0213	712	c.108 others(733): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACAGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCC GGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGC GCTCCCCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACATCC CAGACGGGGCGACCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGA CGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCCGGG CAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCC CACCTCGCAGACAGGGCGGCTGCCAGGCAGAGGCGCTCCTCACCTCTCAG ACGGGGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(705): Show ATCTGGGATGTGAGGAGCACCTCTGCCCGGCCGCCCCGTCTGAGAGGTGA GGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCC CGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCG TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTC TGGGAGGTGGGGAGCGCCTCTGCCCGGTCGCCCCGTCTGGGATGTGGGGA GCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGGGGAGCGCCTCTGCCTG GCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGA CTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGG AGCGCCTCTGCCCGGCCGCCCTGTCTGAGAGGTGAGGAGCGCCTCTGCCT GGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA19043.hp1 HG02897.hp1 NA19043.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0016 a0001c0001 a0009c0016	a0001c0001t0048 a0009c0016t0021 a0001c0001t0048 a0009c0016t0021	a0001c0001t0048g0075 a0009c0016t0021g0006 a0001c0001t0048g0075 a0009c0016t0021g0006	2	94	0.0213	712	c.108 others(733): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACAGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCC GGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGC GCTCCCCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACATCC CAGACGGGGCGACCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGA CGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCCGGG CAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCC CACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGCGCTCCTCACCTCTCAG ACGGGGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(705): Show ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGA GGAGCGCCTCTGCCCGGCAGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCC CGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCG TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTC TGGGAGGTGGGGAGCGCCTCTGCCCGGTCGCCCCGTCTGGGATGTGGGGA GCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGGGGAGCGCCTCTGCCTG GCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGA CTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGG AGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGAGGAGCGCCTCTGCCT GGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp2 others(11): Show HG00140.hp1 HG00140.hp2 HG00639.hp2 HG00735.hp1 HG01074.hp2 HG01081.hp1 HG02559.hp1 HG02723.hp1 HG03225.hp1 HG03669.hp1 HG03710.hp2 HG04204.hp2 NA18964.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0021 a0001c0034 a0001c0037 a0001c0046	a0001c0001t0001 a0001c0001t0013 a0001c0001t0042 others(9): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0042 a0001c0001t0056 a0001c0002t0002 a0001c0002t0003 a0001c0002t0045 a0001c0005t0002 a0001c0021t0002 a0001c0034t0017 a0001c0037t0039 a0001c0046t0058	a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0013g0060 others(11): Show a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0013g0060 a0001c0001t0042g0048 a0001c0001t0056g0082 a0001c0002t0002g0036 a0001c0002t0003g0055 a0001c0002t0003g0058 a0001c0002t0045g0059 a0001c0005t0002g0041 a0001c0021t0002g0033 a0001c0034t0017g0089 a0001c0037t0039g0019 a0001c0046t0058g0088	14	94	0.1489	712	c.108 others(733): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCC GGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGC GCTCCCCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACATCC CAGACGGGGCGACCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGA CGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGG CAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCCGGGCAGAGGCGCTCCC CACCTCCCAGACGGGGCGGCTGCCGGGCAGAGGCGCTCCTCACCTCTCAG ACGGGGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(705): Show ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGA GGAGCGCCTCTGCCCGGCAGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCC TGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCG TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTC TGGGAGGTGGGGAGCGCCTCTGCCCGGTCGCCCCGTCTGGGATGTGGGGA GCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGGGGAGCGCCTCTGCCTG GCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGA CTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGG AGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGAGGAGCGCCTCTGCCT GGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0004	1	94	0.0106	712	c.108 others(733): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCC GGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGC GCTCCCCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACATCC CAGACGGGGCGACCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGA CGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCCGGG CAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCCGGGCAGAGGCGCTCCC CACCTCCCAGACGGGGCGGCTGCCGGGCAGAGGCGCTCCTCACCTCTCAG ACGGGGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar

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Search Results (Total: 8931 hits)