Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(650): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19065.hp2 HG00423.hp2 NA19065.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0027 a0001c0004t0002 a0001c0004t0027	a0001c0004t0002g0173 a0001c0004t0027g0192 a0001c0004t0002g0173 a0001c0004t0027g0192	2	7	0.2857	657	c.368 others(674): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGTGGC CCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG GCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGTATGTAGTAAGTACGT GGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAA GTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGT AAGTGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364576	C C	CTTACACC others(650): Show CTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCT TACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACC CTTACATCTACCTCCACGCCCACACTTACACCCACCCACACTTACACCCA CCCTTACATCTACCTCCACGCCCACACTTACACCCACCCACACTTACACC CACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACA CCCACCCTTACATCTACCTCCACGCCCACACTTACACCCACCCACACTTA CACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACACTTACA TCTACCTCCACACCCACACTTACACCCACCCTTACATCTACCTCCACGCC CACACTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCACA CCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCA CACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTTACA CCCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCACACTCA CACCCACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCT TACATCTA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0052 a0001c0009t0052	a0001c0009t0052g0274 a0001c0009t0052g0274	1	259	0.0039	657	c.129 others(674): Show c.1290-848_1290-847insTTACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTTACAC CCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCACACTTAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCACACTT ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAC TTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCAC ACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACACTTACATCTACCTCCACACCCACACTTACACCCAC CCTTACATCTACCTCCACGCCCACACTTACACCCACCCACACTTACACCC ACACTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCTTACATCT ACCTCCACACCCACACTTACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACGCCCACACTCACACCCACCCACACTTACATCTACCTCCAC ACCCACACTCACACCCACCCTTACATCTA	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10			chr10	TogoVar
LUC7L_chr16_183990_234449	186952	G G	GAGGAACA others(650): Show GAGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAGCGACAC GGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGGGAACAGCGACAC GGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	303	0.0033	657	c.22 others(668): Show c.2245_*2246insTCCCTCCCGTGTCGCTGTTCCCCCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCC CCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGC TGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCG TGTCGCTGTTCCTCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCC CCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCC CCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCT GTTCCCCCCGTGTCGCTGTTCCT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2037		chr16	TogoVar
MICAL3_chr22_17782649_18029561	17876757	A A	AGGAGGTT others(650): Show AGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAA GTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTAT GGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGC TTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGT TAAGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGG AAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTT ATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAGGGAG GTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTAT GGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTGAGG GAGGTTAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	248	0.0040	657	c.224 others(676): Show c.2242-4735_2242-4734insATAACCTCCCTCACCTCCCTAACCTC CATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCATAACTTCCCTAACCTCCATAATCTCCCTAACCTCC ATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAAC CTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACC TCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCAT AACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCT CCCTAACCTCCATAAGCTCCCTAACCTCCTTAACCTCCCTAACCTCCATA AGCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTC CCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCC ATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAAC CTCCCTAACCTCCATAAGCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877153	G G	GGGAAGTT others(650): Show GGGAAGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTATGGAGGTTAGG GAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGG AGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTT AGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGA GGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGGTGAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTAT GGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGG GAGGTTAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	250	0.0040	657	c.224 others(676): Show c.2242-5131_2242-5130insATAACCTCCCTCACCTCCCTAACCTC CCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTAA CCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACTGCCATAACCTCC ATAACTTCCCTAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAATCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACT TCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCAT AACTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACCT CCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATA ACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTC CATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCC ATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAAC TTCCCTAACCTCCATAACCTCCATAACTTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(650): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTC CCGTCTCCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCCTCCTCCC CTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTC CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTC CCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCC CCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCCTCCCCTCCCCC CTCCTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	4	0.2500	657	c.114 others(676): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCCTCTCCCCTCCCG TCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCCTCCCGTCTCCCCTCCTCC CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTC CCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCC TCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCC CTCCTCCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYDGF_chr19_4652545_4675342	4663639	C C	CCCCACCC others(650): Show CCCCACCCACCCCACCCTCATTCTACAGCCTCCAATCTACCCTCCCCACC CACCCCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCCA CCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCCACCCTCAT TCTACAGCCTCCAATCTACCCTCCCCACCCACCCCACCCTCATTCTACAG CCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAA TCTACCCTCCCCACCCACCCCACCCTCATTCTACAGCCTCCAATCTACCC TCCCCACCCACCCCACCCTCATTCTACACAGCCTCCAATCTACCCTCCCC ACCTCATCCTCATTCTACAGCCTCCAGTATACCCTCCCCACCCACCCTGT CCTCATTCTACACAGTCTCCAATCTGTGCTCTCCCCACCCACCCCATCCT CATTCTACAAAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTC TACACAGTCTCCAATCTGTGCCCTCTCCACCCACCCCATCCTCATTCTAC AGCCTCCAATCTACCCTCCCCACCTCATCCTCATTCTACAGCCTCCAGTA TACCCTCCCCACCCACCCTGTCCTCATTCTACACAGTCTCCAATCTGTGC TCTCCCCA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0094 a0002c0002t0002g0094	1	400	0.0025	657	c.287 others(674): Show c.287+1236_287+1237insTGGGGAGAGCACAGATTGGAGACTGTGT AGAATGAGGACAGGGTGGGTGGGGAGGGTATACTGGAGGCTGTAGAATGA GGATGAGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTGG GTGGAGAGGGCACAGATTGGAGACTGTGTAGAATGAGGATGGGGTGGGTG GGGAGGGTAGATTGGAGGCTTTGTAGAATGAGGATGGGGTGGGTGGGGAG AGCACAGATTGGAGACTGTGTAGAATGAGGACAGGGTGGGTGGGGAGGGT ATACTGGAGGCTGTAGAATGAGGATGAGGTGGGGAGGGTAGATTGGAGGC TGTGTAGAATGAGGGTGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAG AATGAGGGTGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGG ATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGGTGGGGT GGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGGTGGGGTGGGTGGG GAGGGTAGATTGGAGGCTGTAGAATGAGGGTGGGGTGGGTGGGGAGGGTA GATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGA GGCTGTAGAATGAGGGTGGGGTGGGTGGG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
NOC4L_chr12_132139457_132157468	132149664	C C	CACACCAC others(650): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGG CCGCCTCG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	284	0.0035	657	c.901 others(672): Show c.901+769_901+770insACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCGGCCGCCTCG	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOL4L_chr20_32438059_32590333	32563163	G G	GGGTGGAG others(650): Show GGGTGGAGTGCAGGGAGGGTGGAGGGAGGGAGAGTGGGGAGGGAGGGTAG AAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGGCAGGGAGGGT GGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGAGGGTGGGGAG GGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGATGGAGGGAGGGAGAG TGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCAGGGGGGGAGGGAGGGA GAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGGGGAG GGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGGGGAGGGTGGAGGGC AGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGTGGGGAGGGTGGAGGGCAG GGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAGAGTGGGGAGGGTGGA GGGCAGGGAGTGGGGAGGGAGGGACAGTGGGGAGGTTGGAGGGGAGGGTG GAGGGCAGGGAGGGTGGAGAGCAGGGAGGGTGGGGAGGGAGGGTGGAGGG AAGGAGAGTGGGGAGGGAGGGAGAGTGGAGAGGGAGGGTGGAGGGGAAGG AGGGTGGAGGGAGGGAGAGTGGGGAAGGTGGAGGGGAGGGAGGGTGGAGG GCAGGGAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0067 a0001c0002t0017g0067	1	173	0.0058	657	c.321 others(676): Show c.321+21406_321+21407insATCCCTGCCCTCCACCCTCCCTCCCC TCCACCTTCCCCACTCTCCCTCCCTCCACCCTCCTTCCCCTCCACCCTCC CTCTCCACTCTCCCTCCCTCCCCACTCTCCTTCCCTCCACCCTCCCTCCC CACCCTCCCTGCTCTCCACCCTCCCTGCCCTCCACCCTCCCCTCCAACCT CCCCACTGTCCCTCCCTCCCCACTCCCTGCCCTCCACCCTCCCCACTCTC CCTCCCTCCATCCTCCCTGCCCTCCACCCTCCCTGCCCTCCACCCTCCCC ACTCTCCCTCCCTCCCCTCCTCCCTCCTCCCTGCCCTCCACCCTCCCCAC TCTCCCTCCCTCCACCCTCCCTCCCCTCCACCCTCCCCACTCTCCCTCCC TCCACCCTCCCTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCCCCTG CCTTCCTCCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCCCTCCATCC TCCCTGCCCTCCCCACTCTCCCTCCACCCTCCCTCCCCACCCTCCCTGTC CTCCATCCTCCCTCCCCACCCTCCCTCCCTCCACCCTCCCTGCCTTCCAC TCTCCCTCCCTCCCCTCCACCCTCCTTACCTTCTACCCTCCCTCCCCACT CTCCCTCCCTCCACCCTCCCTGCACTCCACC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(650): Show ATAGTATATATAGTATATAGTATATATAGGATATATAGGATATAGAGTAT ATATAGGATATATCCCTCCTATATATACTCTATAGTATATATAGTATATA TAGTATATATACTCTATAGTATATATAGTATATATACTATATATACTCTA TAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTATA GAGTATATATAGTATATATACTATAGAGTATATATAGTATATATACTATA GAGTATATATAGTATATATACTATAGAGTATATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTATATGTACTATATAGTACATATAGTATATATACTA TATGTACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	254	0.0039	657	c.-16 others(668): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGGATATA TAGGATATAGAGTATATATAGGATATATCCCTCCTATATATACTCTATAG TATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATAT ACTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATAT AGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATAT AGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATAT AGTATATATACTATAGAGTATATATAGTATATATACTATAGAGTATATAT AGTATATATACTATAGAGTATATATAGTATATATACTATAGAGTATATAT AGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTAT AGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTAT AGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTAT AGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTAT AGTATATATAGTATATATAGTATATATACTATATGTACTATATAGTACAT ATAGTATATATACTATATGTACT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR2T1_chr1_248398048_248413020	248404195	C C	CGTGTGTG others(650): Show CGTGTGTGTGCGTGTGTATAAAATGGGAGTAACCGTGAACAGACAGCAGA GGCTGCTATTACATATACGTGTGTGTGTATAAAATGGGAGTAAGCGTGAA CAGAGAGCAGAGGACGCTATTACATATACGTGTGTGTGTATAAAATGGGA GTAAGCGTGAACAGACAGCAGAGGGCCCTATTACATATACGTGTGTGTGT ATAAAATGGGAGTAAGCGTGAACAGAGAGCAGAGGGCGCTATTACATATA CGTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGACAGCAGAGGCCGC TATTACATATATGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGACAGC AGAGGGCGCTATTACATATATATGTTTGTGTGTGTTTGTGTGTGTGTGTC TGTGTGTGTATAAAATGGGAGTAAGGGTGAACAGACAGCAGAGGCTATTA CATATATGTGTGTGTATAAAATGGGAGTAAGTGTGAACAGACAGCAGAGG CTGCTATTACATACGTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGA GAGCAGAGGGCGCTATTACACATACGTGTGTGTATAAAATGGGAGTAACC GTGAACAGACAGCAGAGGCCGCTATTACATATATGTGTGTGTGTGTGTGT GTGTGTGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp2 HG02055.hp2 others(7): Show HG01261.hp2 HG01891.hp2 HG02055.hp2 HG02486.hp1 HG02717.hp1 HG03471.hp1 HG03579.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0043 a0001c0001t0002g0167 a0001c0001t0002g0005 a0001c0001t0002g0043 a0001c0001t0002g0167	10	12	0.8333	657	c.-34 others(672): Show c.-34+959_-34+960insCGTGTGTATAAAATGGGAGTAACCGTGAAC AGACAGCAGAGGCTGCTATTACATATACGTGTGTGTGTATAAAATGGGAG TAAGCGTGAACAGAGAGCAGAGGACGCTATTACATATACGTGTGTGTGTA TAAAATGGGAGTAAGCGTGAACAGACAGCAGAGGGCCCTATTACATATAC GTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGAGAGCAGAGGGCGCT ATTACATATACGTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGACAG CAGAGGCCGCTATTACATATATGTGTGTGTATAAAATGGGAGTAAGCGTG AACAGACAGCAGAGGGCGCTATTACATATATATGTTTGTGTGTGTTTGTG TGTGTGTGTCTGTGTGTGTATAAAATGGGAGTAAGGGTGAACAGACAGCA GAGGCTATTACATATATGTGTGTGTATAAAATGGGAGTAAGTGTGAACAG ACAGCAGAGGCTGCTATTACATACGTGTGTGTGTATAAAATGGGAGTAAG CGTGAACAGAGAGCAGAGGGCGCTATTACACATACGTGTGTGTATAAAAT GGGAGTAACCGTGAACAGACAGCAGAGGCCGCTATTACATATATGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTG	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR2T1_chr1_248398048_248413020	248404195	C C	CGTGTGTG others(650): Show CGTGTGTGTGCGTGTGTATAAAATGGGAGTAACCGTGAACAGACAGCAGA GGCTGCTATTACATATACGTGTGTGTGTATAAAATGGGAGTAAGCGTGAA CAGAGAGCAGAGGACGCTATTACATATACGTGTGTGTGTATAAAATGGGA GTAAGCGTGAACAGACAGCAGAGGGCCCTATTACATATACGTGTGTGTGT ATAAAATGGGAGTAAGCGTGAACAGAGAGCAGAGGGCGCTATTACATATA CGTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGACAGCAGAGGCCGC TATTACATATATGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGACAGC AGAGGGCGCTATTACATATATATGTTTGTGTGTGTTTGTGTGTGTGTGTC TGTGTGTGTATAAAATGGGAGTAAGGGTGAACAGACAGCAGAGGCTATTA CATATATGTGTGTGTATAAAATGGGAGTAAGTGTGAACAGACAGCAGAGG CTGCTATTACATACGTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGA GAGCAGAGGGCGCTATTACACATATGTGTGTGTATAAAATGGGAGTAACC GTGAACAGACAGCAGAGGCCGCTATTACATATATGTGTGTGTGTGTGTGT GTGTGTGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	3	0.3333	657	c.-34 others(672): Show c.-34+959_-34+960insCGTGTGTATAAAATGGGAGTAACCGTGAAC AGACAGCAGAGGCTGCTATTACATATACGTGTGTGTGTATAAAATGGGAG TAAGCGTGAACAGAGAGCAGAGGACGCTATTACATATACGTGTGTGTGTA TAAAATGGGAGTAAGCGTGAACAGACAGCAGAGGGCCCTATTACATATAC GTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGAGAGCAGAGGGCGCT ATTACATATACGTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGACAG CAGAGGCCGCTATTACATATATGTGTGTGTATAAAATGGGAGTAAGCGTG AACAGACAGCAGAGGGCGCTATTACATATATATGTTTGTGTGTGTTTGTG TGTGTGTGTCTGTGTGTGTATAAAATGGGAGTAAGGGTGAACAGACAGCA GAGGCTATTACATATATGTGTGTGTATAAAATGGGAGTAAGTGTGAACAG ACAGCAGAGGCTGCTATTACATACGTGTGTGTGTATAAAATGGGAGTAAG CGTGAACAGAGAGCAGAGGGCGCTATTACACATATGTGTGTGTATAAAAT GGGAGTAACCGTGAACAGACAGCAGAGGCCGCTATTACATATATGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTG	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(650): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACACATATAACATGTATTACATATATGTAATACA CATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0001 a0001c0001t0038g0001	1	122	0.0082	657	c.70 others(668): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACACATATAACATGTATTA CATATATGTAATACACATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(650): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATGTATTACATATATGTAATACA TATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	122	0.0082	657	c.70 others(668): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATGTATTA CATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PERM1_chr1_970198_987093	976843	C C	CAACCCCG others(650): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCA CCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCC CCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	402	0.0025	657	c.215 others(674): Show c.2150-220_2150-219insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTG GGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGGAGTGGGAGGCGGT TCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGA GTGGGAGGCGGTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGT TGGTGGGGGGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTG GGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGT TCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGA GTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGG GTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGGTCGGGGGAGTGGGAGGCGGTTCCCGGGGTTGC GGGGGGAGTGGGAGGCGGTTCCCGGGGTT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977065	C C	CCAACCCC others(650): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAAC CCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCAC CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	169	0.0059	657	c.215 others(674): Show c.2150-442_2150-441insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGC GGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGT TCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGG AGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGG GGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGG AGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGC GGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGG TTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGG AGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGG GGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTG GGGGGAGTGGGAGGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PITPNM3_chr17_6446263_6561555	6561410	C C	CTCCTAGT others(650): Show CTCCTAGTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCCTCCTCCTTCT CATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCC TCTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCT TCTTCCTCCTCCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCT TCCTCCTCCTCCGCCCCCTCTTCCTCCTTCTCATCCTCCTTCCCTCCTCT TCCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCCCCTCTTCCTCCCCTC CTCCTCCTCTTCCTCCTCCTTCTCTTTATTCTCCCCTCCTCCTCTTCCTC CTCCTCCTTCTCATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTT CCTTCTCCTCCTCTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTTCT CCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTTCTTCCTCCTCCTCCCCT CCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTTCCTCCTCCTCCGCCCCC CCTTCCTCCTTCTCCTCATCCTCCTTCCCTCCTCTTCCTCCTTTTCCTCC TTCTCCTCCCCTCTTCCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCTT CCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	124	0.0081	657	c.-50 others(668): Show c.-5005_-5004insAGGGGAGGAAGAGGAGGAGGGGAGGAGGAGGAGG AAGAGGAGGAAGAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGGGAA GGAGGATGAGGAGAAGGAGGAAGGGGGGGCGGAGGAGGAGGAAGAGGAGA AGAAAGAGGAGGAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGG AAGAAGAGAAGGAGGAGGAAAAGGAGAAGAAGGAGGAGGAAAAGGAGAAG AAGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGGAGAGAATGAG AAGGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGGGGAGAATAAA GAGAAGGAGGAGGAAGAGGAGGAGGAGGGGAGGAAGAGGGGAGGAGGAGG GGAGGAGGAGGAGGAAGAGGAGGAAGAGGAGGGAAGGAGGATGAGAAGGA GGAAGAGGGGGCGGAGGAGGAGGAAGAGGAGAAGAAAGAGGAGGAGGAGG AAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGAAGAAGAGAAGGAGGAGG AAAAGGAGAAGAAGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGG GAGAGAATGAGAAGGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAG GGGGAGGAGGAGGAGGACTAGGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4856		chr17	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(650): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCACCACCATCACCAT CACCATCACCACCACCACCATCACCACCAGCACCACCAGCACCACCACCA TCAACATCATCATCATCACCACCATCACCACCATCATCACCACCACCGTC ATCACCACCAGCACCACCATCACCACCACCATCACCACCATCTCACCATC ATCACCATCACCATCACCATCACCACCATCTCACCATCACCATCACCACC ATCATCACCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCACCACCACCATCACCATCACCATCACCACCATCATCATCACCAC CATCACCACCACCACCACCACCATCATCACCATCACCACCAGCACCACCA CCAACATCATCATCATCACCACCACCACCACCATCACCACCACCACCACC ATCAACACCACCATCACCACCACCATCATCATCACCACCACCACCATCAC CACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0019 a0019	a0019c0027 a0019c0027	a0019c0027t0001 a0019c0027t0001	a0019c0027t0001g0015 a0019c0027t0001g0015	1	140	0.0071	657	c.48 others(668): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATGGT GATGGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGA TGGTGAGATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGT GGTGATGGTGATGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGT GGTGATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGA TGGTGGTGATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTG GTGATGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGT GGTGATGGTGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGGTGAT GGTGATGATGATGGTGGTGGTGATGGTGAGATGGTGGTGATGGTGGTGGT GGTGGTTATGGTGGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTGA TGATGGTGATGATGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
PLEKHN1_chr1_961482_980865	977065	C C	CCAACCCC others(650): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAAC CCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCAC CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02027.hp2 HG00438.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0001 a0001c0001t0001g0052	2	186	0.0108	657	c.24 others(668): Show c.2490_*2491insCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCC ACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCG GGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1201		chr1	TogoVar
PTPN4_chr2_119754922_119989899	119843900	G G	GGACGGGG others(650): Show GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGATCCCTCCACCTCCCTCC CGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGC GGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	201	0.0050	657	c.139 others(676): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCCACCTCCC TCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGATCCCTCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGG CGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGG CGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
RBFOX3_chr17_79084345_79616051	79495580	T T	TGGGAAGG others(650): Show TGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAAAGGGTA CTGGGGCAGGGATGGGGATGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTG GGGAGGTGGGGCAGGGGTACTGGGGCAGGGATGGGGATGCGGGAAGGTGG GAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAAAGGGTACTG GGGCAGGGATGGGGATGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGG AGGTGGGGCAGGGGTACTGGGGCAGGGATGGGGATGCGGGAAGGTGGGAA GGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGCAGGGGTACTGGGGG CAGGGATGGGGATGCGGGAAGGTGGGAAGGTGGGGGAGGGGTGCAGAGGG TGGGGAGGTGGGGGAAAGGGTACTGGGGCAGGGATGGGGATGCGGGAAGG TGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGCAGGGGTACTGGGGCAG GGATGGGGATGCGGGAAGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGG GGAGGTGGGGCAGGGGTACTGGGGCAGGGATGGGGGTGCGGGAAGGTGGG GGAGGGGTGCAGAGGGTGGGGAGGTGGGGCAGGGGTACTGGGGCAGGGAT GGGGGTGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	101	0.0099	657	c.-31 others(678): Show c.-319-12983_-319-12982insGCACCCCCATCCCTGCCCCAGTAC CCCTGCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCGCACC CCCATCCCTGCCCCAGTACCCCTGCCCCACCTCCCCACCCTCTGCACCCC TCCCCCACCTTCCCACCTTCCCGCATCCCCATCCCTGCCCCAGTACCCCT GCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCGCATCCCCA TCCCTGCCCCAGTACCCTTTCCCCCACCTCCCCACCCTCTGCACCCCTCC CCCACCTTCCCACCTTCCCGCATCCCCATCCCTGCCCCCAGTACCCCTGC CCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCTTCCCGCA TCCCCATCCCTGCCCCAGTACCCCTGCCCCACCTCCCCACCCTCTGCACC CCTCCCCCACCTTCCCGCATCCCCATCCCTGCCCCAGTACCCTTTCCCCC ACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCTTCCCGCATCC CCATCCCTGCCCCAGTACCCCTGCCCCACCTCCCCACCCTCTGCACCCCT CCCCCACCTTCCCGCATCCCCATCCCTGCCCCAGTACCCTTTCCCCCACC TCCCCACCCTCTGCACCCCTCCCCCACCTTCCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RTEL1_chr20_63653312_63701245	63693462	T T	TTCACCAC others(650): Show TTCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCAC CTCCACCTCCACCACCACCTCCACCACCTCCACCTCCACCACCTCCACCA CCACCACCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCACC TCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCACCTCCAC CTCCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCTCCACCA CCACCTCCACCACCTCCACCTCCACCACCACCTCCACCACCACCTCCACC TCCACCTCCACCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCAC CTCCACCACCACCACCACCACCTCCACCACCACCTCCACCACCTCCACCA CCTCCACCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCTCC ACCTCCACCACCTCCACCACCACCACCACCACCTCCACCACCACCACCTC CACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCACCT CCACCACCACCTCCACCACCACCACCACCTCCACCTCCACCACCTCCACC TCCACCTCCACCTCCACCTCCACCACCTCCACCACCACCACCACCACCAC CACCTCCA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0003 a0002c0004t0004g0003	1	22	0.0455	657	c.299 others(674): Show c.2992+179_2992+180insTCACCACCACCACCTCCACCACCACCAC CACCTCCACCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCT CCACCTCCACCACCTCCACCACCACCACCACCTCCACCACCTCCACCTCC ACCACCACCACCTCCACCACCTCCACCACCACCACCTCCACCTCCACCAC CACCACCTCCACCACCTCCACCTCCACCACCTCCACCTCCACCTCCACCT CCACCTCCACCACCTCCACCACCACCTCCACCACCTCCACCTCCACCACC ACCTCCACCACCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCTC CACCACCTCCACCTCCACCACCTCCACCACCACCACCACCACCTCCACCA CCACCTCCACCACCTCCACCACCTCCACCACCACCACCTCCACCACCACC ACCTCCACCTCCACCACCTCCACCTCCACCACCTCCACCACCACCACCAC CACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCA CCACCACCACCTCCACCACCTCCACCACCACCTCCACCACCACCACCACC TCCACCTCCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCTC CACCACCACCACCACCACCACCACCTCCA	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(650): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCTTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCT CCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCCCCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCC TTTCCCTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0047 a0001c0001t0020g0047	1	40	0.0250	657	c.77- others(674): Show c.77-45374_77-45373insTCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTTCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCC CTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCA TCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCC TTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCC CTCCCCTCCCCCCTCCCCCCCCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCC TCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(650): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCTTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCT CCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCCCCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCC TTTCCCTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0041 a0001c0001t0017g0041	1	45	0.0222	657	c.22+ others(674): Show c.22+36337_22+36338insTCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTTCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCC CTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCA TCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCC TTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCC CTCCCCTCCCCCCTCCCCCCCCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCC TCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC2_chr1_31408213_31439678	31432021	C C	CAGGGTGG others(650): Show CAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGG TGGAGAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAT AGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGT GGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTG GACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAG GGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGG TTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAC AGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACA GGGTGGAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0123 a0001c0010t0002g0123	1	196	0.0051	657	c.101 others(674): Show c.1014-929_1014-928insGAGGGTGGAGAGGGTGGATAGGGTGGAT AGGGTGGAGAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGT GGATAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATA GGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGG AGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGG GTGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTT AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGT GGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTG GACAGGGTGGATAGGGTGGACAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432147	C C	CAGGGTGG others(650): Show CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGATA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTG GACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGATAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGA TAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGTTA GGGTGGAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0002 a0005c0019t0002	a0005c0019t0002g0037 a0005c0019t0002g0037	1	184	0.0054	657	c.101 others(674): Show c.1014-803_1014-802insCAGGGTGGACAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGAGAGGG TGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTG GTTAGGGTGGATAGGGTGGACAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC16A3_chr17_82224042_82245086	82227685	C C	CACCACCC others(650): Show CACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCAC CCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCC TGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCG GGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCA CCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCC GCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTG GGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGG AGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACC ACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGC CCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGG CGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAG CACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCAC CCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCC TGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0223 a0001c0001t0001g0053 a0001c0001t0001g0223	3	377	0.0080	657	c.-14 others(668): Show c.-1448_-1447insACCACCCGCCCTGGGCGGGAGCACCACCCGCCCT GGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGG GAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCAC CACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCG CCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGG GCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGA GCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCA CCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCC CTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGC GGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGC ACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACC CGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCT GGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGG GAGCACCACCCGCCCTGGGCGGG	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1356		chr17	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(650): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGGA GGGAGGGAGAGGGAGGGTGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGG CAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGG GAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGAGGGGGAGGCA GGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGGGAGGGAGG CAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGA GGGAGAGGGAGGGAGAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCA GGGAGGGAGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGAGAGGGAGGGA GGGAGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0011 a0001c0038t0011	a0001c0038t0011g0066 a0001c0038t0011g0066	1	2	0.5000	657	c.227 others(676): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCCCTCTCCCTG CCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCC TGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCC TCCCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTC TCCCTCCCTCCCTCCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCC TCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTC CCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCC TCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTG CCTCCCTCTCCCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCC TGCCTCCCTCTCCCTCTCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(650): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGAGGAGGGAGGGGGAGGGGGAAGGGGGATGGGGAGAGGGGAG GGGAGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGG AGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGA AGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGA GGGGGAGGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGG AGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGG GAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGG TGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	657	c.12 others(668): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCTTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCTCCCCTCCCCTCTCCCCATCCCCCTTCCCC CTCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTC CCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCT CCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTC ACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCT CCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCC CTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCC TCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGAAGGG others(650): Show AGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGA AGGGAGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGG GGAGGAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGA GGGCAGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGA GAGGGGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGG GGAAGGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGA GGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGA GGGGAGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGG GAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGAGGAGGGAGGGGG AGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGA GGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGG GGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAG AGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGG CGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	3	0.3333	657	c.12 others(668): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCTCCTCCC CCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCC CCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCC ATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTC CCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTC CCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCC CCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCT CCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTC CCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(650): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGG AGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAG GAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGC AGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGG GGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGG AGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGG AGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGGAG GGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGGG AGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGA GGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGG GGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAG AGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGG CGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	657	c.12 others(668): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCTCCCCCCCTCCCTCCTCCCCCCCTCCT CCCCCTTCCCCTTCCCCCCTTCCCCTCCCCCTCCCCCTCCCTCCTCCCCC TCCCCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTT CCCCATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCT CCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCC TCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCT CTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTC CCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGC CCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(650): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGG AGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAG GAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGC AGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGG GGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGG AGGAGGGAGGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGG GAGGGGAGGAGGGAGGGGAGGGGGAGGGGGGGAGGAGGGAGGGGGAGGGG AGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGG AGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGA GGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGG GGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAG AGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGG CGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	657	c.12 others(668): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCT CCCCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTC CCCATCCCCTCCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCT CCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCC TCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCT CTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTC CCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGC CCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(650): Show AGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGG GAGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGAGGGGAGAGGGGGAG GAGGGAGGTGAGGGCAGAGGAGGGGAGAGAGGGAGGAGGGAGGGGAGGGC AGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGG GGAGGGGGAAGAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGG AAGGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGGAG GGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAG GGGAGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGG AGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGG AGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGA GGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGG GGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAG AGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGG CGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	657	c.12 others(668): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCC CATCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCTCC TCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTC TCCCCGTCCCCCTCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCT CTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCTCTCTC CCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCTGCCCTGCC CTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTC CCTCCCTCCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
THEG_chr19_356747_381026	377105	C C	CTCTGTGC others(650): Show CTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGC CTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTGTG CCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCC CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0015 a0003c0003t0015	a0003c0003t0015g0244 a0003c0003t0015g0244	1	209	0.0048	657	c.-11 others(668): Show c.-1136_-1135insAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGG GAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGG GGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGGGGGGGAGAGGCTGGGTGGGGCACACGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGG TGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCT GGGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGGCACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1080		chr19	TogoVar
THEG_chr19_356747_381026	377283	C C	CCCCTCTG others(650): Show CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGC CTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCC CCCACCCAGCCTCTCTCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGT GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCC CCCCCGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCCACCCAGCCT CTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTACCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	349	0.0029	657	c.-13 others(668): Show c.-1314_-1313insAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGG CTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGG AGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACGGGGGGAGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGT GGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGG CTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGAGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1258		chr19	TogoVar
TMEM178B_chr7_141069064_141485380	141337156	C C	CACCACCA others(650): Show CACCACCACCATCACTACCACCACCACCACCCCCATCACTACCATCATCA TCACCACCACCACCATCACCACCATCACCACCACCACCATCATCACCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAGC ATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAG CATCACCACCACCACCACCACCACCACCACCACCACCATCACCACCAGCA TCACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCACCACCACCAGCATCACCACCATCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCAGCATCACCACCATCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCACCACCATCACCACCAGCATC ACCACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CACGACCACCACCAGCACCACCACCATCACCACCATCACCACCACCACCA CCATCACT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03579.hp1 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0008 a0001c0001t0015 a0001c0002t0008	a0001c0001t0015g0028 a0001c0002t0008g0003 a0001c0001t0015g0028 a0001c0002t0008g0003	2	35	0.0571	657	c.497 others(678): Show c.497-100451_497-100450insCCACCACCATCACTACCACCACCA CCACCCCCATCACTACCATCATCATCACCACCACCACCATCACCACCATC ACCACCACCACCATCATCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCAGCATCACCACCATCACCACCACCACCAC CACCACCACCACCACCACCACCAGCATCACCACCACCACCACCACCACCA CCACCACCACCATCACCACCAGCATCACCACCATCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCACCACCACCAGCATCACCACCAT CACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCAGCA TCACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCAGCATCACCACCATCACCACCACCATCACCAC CACCACCACCACCACCATCACCACCACGACCACCACCAGCACCACCACCA TCACCACCATCACCACCACCACCACCATCACTA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CCCTCCCC others(650): Show CCCTCCCCTCTCCCCCCCGTCTCCCCCTCTCCTCTGTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCCTCTCCCCCTC CCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCT CCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC CCTCCCCCTCCCCTCTCCCCTCCCCCCTCTCCCCTCTCCCCTACCCTCTC CCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTC CCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCC TCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCCCTCTCCTCTCTCCTCCC CTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCT CCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCT CCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCC CTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCC CTCCCCCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	46	0.0217	657	c.-25 others(676): Show c.-25-12169_-25-12168insCCTCCCCTCTCCCCCCCGTCTCCCCC TCTCCTCTGTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTTTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTCTCCCCCTCTCCCCCTCCCCTCTCCCCTCTCCCCTCCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCTCCCCTCCCCCC TCTCCCCTCTCCCCTACCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCC CCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTC TTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCC TCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTC CCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCC ATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCC CCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTC CCCTTCCCTCCCCTCCCCTCCCCCTCCCCCT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(650): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATTATATCATCATATGATGA TATGATACTATTATATCATCATATGATGATATGATACTATTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	98	0.0102	657	c.41- others(674): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATTATATCATCATATGATGA TATGATACTATTATATCATCATATGATGATATGATACTATTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TWIST2_chr2_238843085_238915534	238870633	C C	CCACACAC others(650): Show CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCATACACACCACACCCC ACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACACCCCACACACACCACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACACCCCACACACACCACACCCCACAC ACACCACA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	91	0.0110	657	c.35 others(676): Show c.35+21901_*35+21902insACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCATACACACCACACCCCACACACCACACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCACACACACCACACCCCACACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ULK1_chr12_131889622_131928150	131917305	G G	GTTCGGCT others(650): Show GTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGAGGCTGTGGGGATGGGGGTCGGAGGCTGTGGGA TGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTG GGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCAGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATG GGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA TGGGGGTC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	342	0.0029	657	c.218 others(674): Show c.2183-106_2183-105insTTCGGCTCGGAGGCTGTGGGATGGGGCT CGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGGA TGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGGACGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGATGGGGGTCAGGTTCGGCTCGGAGGCTGTGGGATG GGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTC	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
UNC5D_chr8_35230475_35801540	35248360	A A	AAATATAT others(650): Show AAATATATAATATATAAATATATGTTATATAAAATATATAATATATAAAT ATATGTTATATAAGAAATAGATATAATATATAAATATATGTTATATAAGA AATAGATATAATATATAAATATATGTTATATATGAAATAGATATAATATA TAAATATATGTTATATATGAAATAGATATAATATATAAATATATGTTATA TATGAAATAGATATAATATATAAATATATGTTATATATGAAATAGATATA ATATATAAATATATGTTATATATGAAATAGATATAATATATAAATATATG TTATATATGAAATAGATATAATATATAAATATATGTTATATATGAAATAG ATATAATATATAAATATATGTTATATATGAAATAGATATAATATATAAAT ATATGTTATATATGAAATAGATATAATATATAAATATATGTTATATATGA AATAGATATAATATATAAATATATGTTATATATGAAATAGATATAATATA TAAATATATGTTATATATGAAATAGATATAATATATAAATATATGTTATA TATGAAATAGATATAATATATAAATATATGTTATATATGAAATAGATATA ATATATAAATATATGTTATATATGAAATAGATATAATATATAAATATATG TTATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0017 a0002c0005t0017	a0002c0005t0017g0030 a0002c0005t0017g0030	1	17	0.0588	657	c.103 others(676): Show c.103+12473_103+12474insAATATATAATATATAAATATATGTTA TATAAAATATATAATATATAAATATATGTTATATAAGAAATAGATATAAT ATATAAATATATGTTATATAAGAAATAGATATAATATATAAATATATGTT ATATATGAAATAGATATAATATATAAATATATGTTATATATGAAATAGAT ATAATATATAAATATATGTTATATATGAAATAGATATAATATATAAATAT ATGTTATATATGAAATAGATATAATATATAAATATATGTTATATATGAAA TAGATATAATATATAAATATATGTTATATATGAAATAGATATAATATATA AATATATGTTATATATGAAATAGATATAATATATAAATATATGTTATATA TGAAATAGATATAATATATAAATATATGTTATATATGAAATAGATATAAT ATATAAATATATGTTATATATGAAATAGATATAATATATAAATATATGTT ATATATGAAATAGATATAATATATAAATATATGTTATATATGAAATAGAT ATAATATATAAATATATGTTATATATGAAATAGATATAATATATAAATAT ATGTTATATATGAAATAGATATAATATATAAATATATGTTATATATGAAA TAGATATAATATATAAATATATGTTATATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16			chr8	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(650): Show AATATATAATATATATAATATATATAATATAATATAATGCAATATATAAT AATTATATAATATAATATATAATATATAATATATATTATATATTATATAT AATATATATTATATATTATATATAATAATATAATATATAATATACATTAT ATAATAATATAATATATAATATACATTATATAATAATATAATGTATATTA TATAATAATAATGTAATATATAACATATATTATATAATAATAATATAATA TATATTATATAATTAATATAATATATAATATATTTTATATAATAATAATA TAATATATATTATATAATTAATATAATATATAATATATATTATATAATAA TAATATAATATATATAATAATTATATAATATAGTATATAATATATATTAT ATAATAATAATATAATATATATAATAATTATATAATATTAGAATATATAT TATACAATAATAATATAATATATTATACAATAATAATATAATATATATAT AATTATATAATATAATATATATAATAATAATATAATATAATATATAATAT ATATTATATAGTAATAATATAATATAATATATAATATATATTATATAGTA ATAATATAATATAATATATAATATATATTATATGATAATATAATATAATA TATATTAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	12	0.0833	657	c.55+ others(672): Show c.55+2822_55+2823insATAATATATATTATATTATATTATCATATA ATATATATTATATATTATATTATATTATTACTATATAATATATATTATAT ATTATATTATATTATTACTATATAATATATATTATATATTATATTATATT ATTATTATATATATTATATTATATAATTATATATATATTATATTATTATT GTATAATATATTATATTATTATTGTATAATATATATTCTAATATTATATA ATTATTATATATATTATATTATTATTATATAATATATATTATATACTATA TTATATAATTATTATATATATTATATTATTATTATATAATATATATTATA TATTATATTAATTATATAATATATATTATATTATTATTATATAAAATATA TTATATATTATATTAATTATATAATATATATTATATTATTATTATATAAT ATATGTTATATATTACATTATTATTATATAATATACATTATATTATTATA TAATGTATATTATATATTATATTATTATATAATGTATATTATATATTATA TTATTATATATAATATATAATATATATTATATATAATATATAATATATAT TATATATTATATATTATATTATATAATTATTATATATTGCATTATATTAT ATTATATATATTATATATATTATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(650): Show TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCT CTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCT TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCC CCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCC CCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCC TTTCCCCC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	100	0.0100	657	c.-10 others(674): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTT TCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZFPM1_chr16_88448280_88542031	88501132	G G	GGGCCCTC others(650): Show GGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCG GGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGATGCG GAGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGC GGGGGCCCTCCCGCAGGTGCTGGTGATGATAGAGATAGCAGACATGGGTG CGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTG CGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGATG CGGAGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGT GCGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGT GCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGG TGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGG GTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATG GGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATCCAGACATG GGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACAT GGGTGCGT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0001 a0002c0027t0001	a0002c0027t0001g0026 a0002c0027t0001g0026	1	222	0.0045	657	c.268 others(676): Show c.268+11981_268+11982insCCCTCCCGCAGGTGCTGGTGATGATG GAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATGATG GAGATAGCAGACATGGATGCGGAGGCCCTCCCGCAGGTGCTGGTGATGAT GGAGATAGCAGACATGGGTGCGGGGGCCCTCCCGCAGGTGCTGGTGATGA TAGAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATGA TGGAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATGA TGGAGATAGCAGACATGGATGCGGAGGCCCTCCCGCAGGTGCTGGTGATG ATGGAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATG ATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGAT GATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGA TGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTG ATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGT GATGATGGAGATCCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGT GATGATGGAGATAGCAGACATGGGTGCGTGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(650): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACGTATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACGTATATATACACATATATACGTGTATATATACATG TATATATACACATATATACATGTATATATATACGTATATATACATGTATA TATACGTACGTATATATACATGTATATATACGTACGTATATATATACGTA TATATACACATATATACATATATACGTATATATATATACGTATATATACA TATATACGTATATATATACGTATATATACATATATACGTATATATATACG TATATATACATATATACGTATATATATATACGTATATATACATATATACA TGTATATATATATACGTATATATACATATATACATGTATATATATATACG TATATACACATATATATACATGTATATATATGTGTATATATACATGTATA TATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	183	0.0055	657	c.-42 others(668): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACGTATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACGTATATATACACATATATAC GTGTATATATACATGTATATATACACATATATACATGTATATATATACGT ATATATACATGTATATATACGTACGTATATATACATGTATATATACGTAC GTATATATATACGTATATATACACATATATACATATATACGTATATATAT ATACGTATATATACATATATACGTATATATATACGTATATATACATATAT ACGTATATATATACGTATATATACATATATACGTATATATATATACGTAT ATATACATATATACATGTATATATATATACGTATATATACATATATACAT GTATATATATATACGTATATACACATATATATACATGTATATATATGTGT ATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975506	G G	GATAAATA others(651): Show GATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATATAAATATTTATATATT TATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTATATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATA GATAAATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0001 a0005c0021t0001	a0005c0021t0001g0115 a0005c0021t0001g0115	1	253	0.0040	658	c.130 others(677): Show c.1308+1070_1308+1071insATATTTATCTATAAATATAAAAATAT TTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT ATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATCT ATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTAT ATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCT ATAAATATAAAAATATTTATATATTTATCTATAAATATATAAATATTTAT ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTT ATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABR_chr17_998519_1184981	1173303	T T	TCCACCCC others(651): Show TCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTC CACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAGCCCA CCCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACC CAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACAC ATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAACACATC ACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCCCATCACCTCA GCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCAC CCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCG CCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACAT CACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTC AGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAACACATCACCTCAGC CCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCC CCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCCAT CACCTCAGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0245 a0001c0002t0012g0245	1	307	0.0033	658	c.61+ others(673): Show c.61+6363_61+6364insGCTGAGGTGATGGGGGGGTGGACTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGT TGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTG GGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGC TGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGAT GTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTG GGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGG CTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGG TGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTT GGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGG GGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGG GTGGACTGAGGTGATGTGTGGGGGGTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288549	C C	CCGTGTCT others(651): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	262	0.0038	658	c.50 others(669): Show c.5014_*5015insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCA GAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGGGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGGGACGGAG CAGAGACACGGGACGGAGCAGGGACACGGGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGA CACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACG GGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGG GACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGG AGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGGACGGAGCAGGGACACGGGACGGAGCAGACACGGGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3841		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289972	G G	GTCTCTGC others(651): Show GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0165 a0001c0011t0001g0165	1	138	0.0072	658	c.35 others(669): Show c.3591_*3592insGACACGGGACGGAGCAGAGACACGGGACGGAGCA GGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACG GGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGA GACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGG GGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGA GACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGG GGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGA GACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGAC GGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACG GGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGAGCA GAGACACGGGGGACGGGGCAGAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2418		chr1	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(651): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CACCCATTCATCCATTCACCCACCCATTCATCCATCCACCCACCCATTCA TCCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCACC CACCCATTCATCCATCCACCCATCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTTACCTACCCATTAATTCACCCA CCCTTCCACCACCCACCCACCCATCCATATACCCACCCACCCATTCACCC ATCCATTCATCCATCCACCCACCCACCCATTCACCCACCCACCCAGCCAT CTCACCCATTCACCCATCCACTCATCCATTCACCTATCCACCCATCCATC CACTCATCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01074.hp2 HG01256.hp1 others(3): Show HG00099.hp2 HG01074.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG03139.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0002 a0004c0009 a0005c0010 a0002c0002 a0004c0009 a0005c0010	a0002c0002t0002 a0004c0009t0011 a0005c0010t0010 a0002c0002t0002 a0004c0009t0011 a0005c0010t0010	a0002c0002t0002g0198 a0004c0009t0011g0116 a0004c0009t0011g0171 others(3): Show a0002c0002t0002g0198 a0004c0009t0011g0116 a0004c0009t0011g0171 a0005c0010t0010g0140 a0005c0010t0010g0141 a0005c0010t0010g0142	6	12	0.5000	658	c.775 others(673): Show c.775-337_775-336insGGATGAGTGGATGGATGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGGTGGGTGGATGGATGAATGGGTGGGTGAATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGAT GAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGAT GAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGATGGGTGGGTGG GTATATGGATGGGTGGGTGGGTGGGTGGTGGAACGGTGGGTGAATGGATG GGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGATGGT GAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar

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