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
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(586): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGCGG AGGTGGGAACGTTGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGCGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGTGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0245 a0002c0002t0002g0245	1	76	0.0132	593	c.955 others(610): Show c.955-6211_955-6210insAACTGTCAGGGTCAGAGCAGAGGCGGAG GTGGGAACGTTGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGCGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGA ACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(586): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGGACTGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGCGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGG TCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACGTTGGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	76	0.0132	593	c.955 others(610): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGCGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGC AGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79200750	T T	TGGAGGTG others(586): Show TGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTC GGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGT GGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCG GGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTG GAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGG GGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGG GTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGA GGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACGTTGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0144 a0001c0003t0003g0144	1	251	0.0040	593	c.955 others(610): Show c.955-6178_955-6177insGACTGTCGGGGTCAGAGCAGAGGCGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGG AACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGCGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(586): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGA AGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGG AGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGG GAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAG GGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGG GGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGG GGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGG AGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAG TGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTG GGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	8	0.1250	593	c.-70 others(602): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGA AGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGT GGGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGG GAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAA GGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAG GGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGC GGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGG AAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGA AGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGG GGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAA GGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C2CD4C_chr19_400445_414147	410786	C C	CCTGCTGG others(586): Show CCTGCTGGGAACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCG GATCCTGGGGGTCTGTCCACTGCCCCTGCTGGGCCCGGATCCTTGGGGGT CTGTCCACTGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCA CTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGG ATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCACGGATCCTGGGGGTCT GTCCACCGCCCCTGCTGGGCACGGATCCTTGGGGTCTGTCCACCGCCCCT GCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCACGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGT CCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGC TGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCC TGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCC ACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0035 a0001c0001t0042g0035	1	266	0.0038	593	c.-18 others(604): Show c.-1822_-1821insTGACGGTGGACAGACCCCCAGGATCCGGGCCCAG CAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGA TCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCA GGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACA GACCCCCAGGATCCGTGCCCAGCAGAGACGGTGGACAGACCCCCAGGATC CGTGCCCAGCAGGGGCGGTGGACAGACCCCAAGGATCCGTGCCCAGCAGG GGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGAGACGGTGGACAGA CCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCG GGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGG CAGTGGACAGACCCCCAAGGATCCGGGCCCAGCAGGGGCAGTGGACAGAC CCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGT TCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1640		chr19	TogoVar
C8orf82_chr8_144520733_144534111	144531192	G G	GAGCAGCA others(586): Show GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACA TAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGA CATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTA GACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGG AGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGT GGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCAGCGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	375	0.0027	593	c.-22 others(604): Show c.-2277_-2276insTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCC GTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGC CCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCT GCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCT	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2082		chr8	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(586): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCGTGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG CATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTG CGTAGGGGCCGAAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATG TGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTA GGGGCCGAAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGG CCGAAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0208 a0002c0002t0001g0208	1	103	0.0097	593	c.300 others(610): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCGTGCATAGGGCCGGAGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAG GTGAGTAGACGGCGTGCGTAGGGGCCGAAGGCGGGGTACGTGGGGGGCGG GTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGCGTGCGTAGGGGCCGAAGGCGGGGTACGTGGGGGGCGGGCGA GTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAG ACGGCGTGCGTAGGGGCCGAAGGCGGGGTACGTGGGGGGCGGGTGAGTAG ACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALN1_chr7_71774491_72417338	72209390	T T	TTCCTTCC others(586): Show TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCT CCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCC CTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCT CCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTTCCTTC CCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCT TCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCC TCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTC CCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCT TCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTC CCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCT TCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0104 a0001c0001t0010g0104	1	62	0.0161	593	c.244 others(612): Show c.244+69295_244+69296insGGGAAGGAGGGAAGGAAGGAGGGAAG GAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGA AGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAG GAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGA AGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGG GAAGGAGGGAAGGAAAGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGA GGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAG GAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGA AGGAAAGAGGGAAGGAGGGAAGGAAGGGAAGGAGGGAAGGAGGGAAGGAA AGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAG AGGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALY_chr10_133319072_133341896	133334339	G G	GGGGGAAG others(586): Show GGGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGG CGAAGGATCTGAGGGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGGA AGCTCTGAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGG CTCTGAAGGGGAGGCTCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTG AAAGGCGAAGGATCTGAGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGG GGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGGC GAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAGGGGGAA GGACATGAGGGAGAAGGATCTGAAAGGCGAAGGATCTGAGGGGGGAAGGA TCTGAGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGGAGGCTCTG AGGGGGGAAGGACATGAGGGAGAAGGATCTGAAAGGCGAAGGATCTGAGG GGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAGGGGG GAAGGACATGAGGGGGAAGGATCTGAGGGGCGAAGGATCTGAGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp2 HG03239.hp2 others(1): Show HG00639.hp1 HG01361.hp2 HG03239.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0114 a0001c0001t0001g0016 a0001c0001t0001g0114	4	67	0.0597	593	c.-21 others(610): Show c.-21+2494_-21+2495insGCTCAGATCCTTCGCCCCTCAGATCCTT CCCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCC CGCTCAGATCCTTCCCCCTCAGATCCTTCGCCTTTCAGATCCTTCTCCCT CATGTCCTTCCCCCCTCAGAGCCTCCCCTTCAGAGCCTTCCCCCCTCAGA GCCTTCCCCGCTCAGATCCTTCCCCCCTCAGATCCTTCGCCTTTCAGATC CTTCTCCCTCATGTCCTTCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTC CCCGCTCAGATCCTTCGCCCCTCAGATCCTTCCCCCTCATGTCCTTCCCC CCTCAGAGCCTTCCCCCCTCAGAGCCTTCCCCGCTCAGATCCTTCCCCCT CAGATCCTTCGCCTTTCAGATCCTTCTCCCTCATGTCCTTCCCCCCTCAG AGCCTCCCCTTCAGAGCCTTCCCCCCTCAGAGCCTTCCCCGCTCAGATCC TTCCCCCCTCAGAGCTTCCCCTTCAGAGCCTTCCCCCCTCAGAGCCTTCC CCCCTCAGATCCTTCGCCCCTCAGATCCTTCCCCCTCATGTCCTTCCCCC CTCAGAGCCTTCCCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(586): Show ATATATATATAATTATATATATAATTATATATATAATTTTATATATATAT AATTATATATATAATTTTATATATATATAATTATATATATTTATATATAT ATAATTATATATATATATAAAATTATATATATAATTATATATATATTATA TATAATTATATATATAATTTTATATATATAATTATATATATTTATATATA TATATAATTATATATATATATAAAATTATATATATAATTATATATATATT ATATATAATTATATATATATATTATATATAATTTTATATATATAATTATA TATATAATTTTATATATATAATTTTATATATATAATTATATATATAATTT TATATATATATAATTATATATATAATTTTATATATATATAATTATATATA TAATTTTATATATATATAATTATATATATAATTATATATATATATAATTA TATATATAATTTTATATATATAATTATATATATAATTATATATATAATTT TATATATATAATTATATATATAATTTTATATATATATAATTATATATATA ATTTTATATATATAATTATATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	94	0.0106	593	c.907 others(608): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TAAAATTATATATATAATTATATATATATATAATTATATATATAATTATA TATATATAAAATTATATATATAATTATATATATATAAAATTATATATATA ATTATATATATATAAAATTATATATATAATTATATATATAAAATTATATA TATAAAATTATATATATAATTATATATATAAAATTATATATAATATATAT ATATAATTATATATAATATATATATAATTATATATATAATTTTATATATA TATATAATTATATATATATATAAATATATATAATTATATATATAAAATTA TATATATAATTATATATAATATATATATAATTATATATATAATTTTATAT ATATATATAATTATATATATATAAATATATATAATTATATATATATAAAA TTATATATATAATTATATATATATAAAATTATATATATAATTATATATAT AATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(586): Show ATATATATATAATTATATATATATAATTATATATAATTTTATATATATAT AATTATATATATAATTTTATATATATATAATTATATATATTTATATATAT ATAATTATATATATATATAAAATTATATATATAATTATATATATTATATA TAATTATATATATAATTTTATATATATAATTATATATATTTATATATATA TATAATTATATATATATATAAAATTATATATATAATTATATATATATTAT ATATAATTATATATATATATTATATATAATTTTATATATATAATTATATA TATAATTTTATATATATAATTTTATATATATAATTTTATATATATAATTT TATATATATAATTATATATATAATTTTATATATATATAATTATATATATA ATTTTATATATATATAATTATATATATAATTTTATATATATATAATTATA TATATAATTTTATATATATATAATTATATATATAATTTTATATATATATA ATTATATATATAATTATATATATAATTTTATATATATAATTATATATATA ATTTTATATATATATAATTATATATATAATTTTATATATATAAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0002 a0007c0022t0002	a0007c0022t0002g0314 a0007c0022t0002g0314	1	94	0.0106	593	c.907 others(608): Show c.907+327_907+328insATTATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATAAAATTATATATATA ATTATATATATAATTATATATATATAAAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAAAATTATATATATAAAATTATA TATATAAAATTATATATATAATTATATATATAAAATTATATATAATATAT ATATATAATTATATATAATATATATATAATTATATATATAATTTTATATA TATATATAATTATATATATATATAAATATATATAATTATATATATAAAAT TATATATATAATTATATATAATATATATAATTATATATATAATTTTATAT ATATATATAATTATATATATATAAATATATATAATTATATATATATAAAA TTATATATATAATTATATATATATAAAATTATATATAATTATATATATAT AATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CBFA2T3_chr16_88869858_88982207	88888559	G G	GGGTGGGA others(586): Show GGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGA GGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGGTG GGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGGGG GAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTGTG TGGGGCTGGGGAGGGGTGGGTAGGGTGGGGGAAGGGTGCGGGTGGGGTTG GGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGGCTGGGGAGGG GTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTACTCCC TGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTGG AGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTGGAAGAAGGG TGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGAGTGG GGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGC AGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGGGTGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02965.hp1 HG01167.hp2 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0006 a0001c0002t0005g0240 a0001c0002t0005g0006 a0001c0002t0005g0240	2	282	0.0071	593	c.712 others(610): Show c.712-2418_712-2417insACACCCCTCCCCCACCCCACCCACACCC TTCCCCCACCCCACCTGCACCCTTCCCCCACCCCACCCCTCCCCCACCCC ACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCCACCCCAC CCCTCCCCCACCCACACCCTTCTTCCACCCCACCCCTCCCTCCCCCACCC CTCCTCCACCCCTCCTCCACCCCACCTGCACCCTTCCCCCACCCCACCCC TCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCTCCCCC TCCCACCCCACCCCACCCCTCCCCAGCCCCACCCATACCCTTCCCCCACT CCACCCCACCCCTCCCCAACCCCACCCGCACCCTTCCCCCACCCTACCCA CCCCTCCCCAGCCCCACACACACCCTTCCCCCACCCCAACCCTCCCCAGC CCCACCCACACCCTTCCCCCACCCCACCCCACCCCTCCCCCACCCCACCC CAACCCTCCCCCACCCCACCCCAACCCTCCCCAGCCCCACACACCCTTCC CCCACCCCAACCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACC CCACCCCCTCCCACC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(586): Show CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCGCCCTCCCCTC CCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCT CCCTCCCCTCCCCTCCCCCCTCCCTCCCCCCTCCCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCT CCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCTCTCCCTCC CCTCTCCCCTCCCCCTCCTCCCCTCCCCCCTCCCCTCCCCTCCCTCTCCC TCCCCTCCCCTCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCC TCCCCTCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	12	0.0833	593	c.-45 others(614): Show c.-455+14591_-455+14592insCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCGC CCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCTCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCC CCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCC TCTCCCTCCCCTCTCCCCTCCCCCTCCTCCCCTCCCCCCTCCCCTCCCCT CCCTCTCCCTCCCCTCCCCTCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCTCTCCCCTCCCCTCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCC TCTCCCCTCCCCTCCCCTC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(586): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCC CTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCT CCCCCCTTCCTCCCCCTCTTCCCTTCCTCCCCCTCTTCCTCTTCCTCCCC CTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCT CTTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCTCCC TCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTC CCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCT CCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0259 a0001c0002t0053g0259	1	2	0.5000	593	c.162 others(614): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCT CCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCCTTCCT CCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCT TCCTCTTCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTC CTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCA CTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTCCTCC TCCTCCTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTC CTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(586): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCC CTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCT CCCCCCTTCCTCCCCCTCTTCCCTTCCTCCCCCTCTTCCTCTTCCTCCCC CTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCT CTTCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCCTCC CCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTC CCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCT CCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0264 a0001c0002t0005g0264	1	2	0.5000	593	c.162 others(614): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCT CCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCCTTCCT CCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCT TCCTCCCCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCTC CTCCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCT CCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCC TCCTCCTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTC CTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(586): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0002 a0003c0014t0002	a0003c0014t0002g0296 a0003c0014t0002g0296	1	171	0.0058	593	c.85- others(610): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AGGGGAAA others(586): Show AGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	294	0.0034	593	c.85- others(610): Show c.85-13093_85-13092insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481592	G G	GTTGCTGG others(586): Show GTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGTT CTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAG ACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCC GTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCT GTCCCTCCGTGCTGGAGACACACTGCTCTGTCCTCCGTGCTGGAGACACA CTGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGC TGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTC CCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACA CTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCT GGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCC TTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACA GTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0011 a0011	a0011c0036 a0011c0036	a0011c0036t0021 a0011c0036t0021	a0011c0036t0021g0321 a0011c0036t0021g0321	1	224	0.0045	593	c.275 others(610): Show c.2759-909_2759-908insAGTTCTGTCCTTCCGTTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGT CCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACAC TGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCTCCGTGCTGGA GACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTC CGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGT TCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGA GACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTC CGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCT CTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGA CACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCA TTGCTGGAGACACAC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CROCC2_chr2_240901336_240998311	240924947	G G	GTCCCCAC others(586): Show GTCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCC AGCCCCCCACACTACCCCGGCCCCCACACTGACCCAGTCCCCACACTGAC CCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAA CCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACAC TAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCC ACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCC CCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGC CCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTGACCCAG CCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACC CGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTA ACCCAGCCCCCCACACTATCCCGGCCCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0303 a0008c0008t0002g0303	1	225	0.0044	593	c.489 others(608): Show c.489-777_489-776insTCCCCACACTGACCCAGTCCCCACACTGAC CCAGCCCCCACACTAACCCAGCCCCCCACACTACCCCGGCCCCCACACTG ACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGTCCCCACACT AACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCAC ACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCC ACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCC CCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGC CCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCA GTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCC AGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAAC CCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACT AACCCGGCCCCCCACACTAACCCAGCCCCCCACACTATCCCGGCCCCCCC ACACTAACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
DIP2C_chr10_269201_694668	478383	G G	GGAGGGGA others(586): Show GGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGA AGAAGGGAGAAGAAGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGAAGAAGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGTGGAGGGGAGGGGAGGGGAGGAGAGAAGGAGAGGGGCGGGG CGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAG AGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGG CGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGG CGGAGAGGGGCGGGGCGGGGAGGGGCAGACGGGGAGGGGAGGGGCAGACG GGGAGGGGAGGGGCAGACGGGGAGGGGAGGGGCAGACGGGGAGGGGAGGG GCAGACGGGGAGGGGAGGGGCAGACGGGGAGGGGAGGGGCAGAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	57	0.0175	593	c.158 others(610): Show c.158-5835_158-5834insGTCTGCCCCTCCCCTCCCCGTCTGCCCC TCCCCTCCCCGTCTGCCCCTCCCCTCCCCGTCTGCCCCTCCCCTCCCCGT CTGCCCCTCCCCTCCCCGTCTGCCCCTCCCCTCCCCGTCTGCCCCTCCCC GCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCC GCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCC TCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCC GCCCCGCCCCTCTCCGCCCCGCCCCTCTCCTTCTCTCCTCCCCTCCCCTC CCCTCCACTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCTTCTTCTCCCCTCCCCTC CCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTC CCTTCTTCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTC CCTTCTTCTCCCCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
EFNA2_chr19_1280873_1306431	1282324	G G	GGGGGAAG others(586): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGAGGGAGGGAGGGA GGAGGGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGG AGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTG AAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGA GGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGG AGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGA GGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGA AGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGG GAGGAGGGTGTGAAGGGGAAAGAGGGAGGGGAGGATTGGAAAGGGGAGGA AGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0084 a0001c0001t0006g0084	1	15	0.0667	593	c.-38 others(604): Show c.-3845_-3844insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGGGGAGGGTGTGAA GGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGA GGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTG TGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGA GGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGG AGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGA GGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTG AAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAAGAGGGAGGGGAGGA TTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGG GGTATTAAT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3548		chr19	TogoVar
EIPR1_chr2_3183970_3382818	3221594	T T	TCGGGAAC others(586): Show TCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAG TGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTC ACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGC ACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTA GAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACAC TCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGT ACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCG AGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATG GCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACAC AATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGC ACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACAC ACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01258.hp2 HG01496.hp2 others(1): Show HG00735.hp2 HG01258.hp2 HG01496.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0197 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0197 a0001c0001t0002g0146	4	215	0.0186	593	c.417 others(610): Show c.417-7347_417-7346insCTCACTGTGAGTGCTCTAGAGTGTACCT CGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGT ACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGA GTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTC TAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGT GCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGT GAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCA CTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGA CTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTC CCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGT GTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGC GTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGT GTGCGTGTGTTCCCG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EXD3_chr9_137301896_137428162	137355563	G G	GGAGAAAG others(586): Show GGAGAAAGGAGAAAGGGAGGAAGGAGGAAGGAGAAAGGAGGAAGGAGGAC GGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGATGGAGGAA GGAGGAAGGGAGGATGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAA GGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGG AGGATGGAGGAAGGAGGATGGAGGAAGGAGGATGGAGGAAGGAGGAAGGA GGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGA GGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGG AGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGG GAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAG GAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGA AGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAA GGAGAAAGGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0001 a0015c0022t0001	a0015c0022t0001g0038 a0015c0022t0001g0038	1	63	0.0159	593	c.757 others(608): Show c.757+704_757+705insTTTCTCCTTCCTCCCTTTCTCCTTCCTCCT TCCTCCCTTTCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCC TTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTC CTCCATCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTC CTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTC CTTCCTCCCTTTCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCCTTTC TCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCC TCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCATCCT CCTTCCTCCATCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCC TTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCA TCCTCCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTCCTCCTTCCTCC TTCCTCCTTCCTCCGTCCTCCTTCCTCCTTTCTCCTTCCTCCTTCCTCCC TTTCTCCTTTCTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
EXOC2_chr6_480154_698139	519116	A A	AAACCACC others(586): Show AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCA CCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCA CCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCA CCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCA CCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAAACCAC CACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCAC CACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCAC CACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19007.hp1 NA19010.hp1 NA18969.hp1 NA19007.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0107	3	177	0.0169	593	c.238 others(614): Show c.2380+13352_2380+13353insCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT CGGCGCTCGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGG CGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGTCGG CGCTCGGTGGGTGGTGGTTTTCGTCTCCGAGTGTGGACGGTGAGTGTCGG CGCTCGGTGGGTGGTGGTT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EZH2_chr7_148802383_148889291	148869338	C C	CTTTTTTT others(586): Show CTTTTTTTTTTTTTTTTTTTTTGGAGACACAGTCTCACTCTGTCACACAG GCTGGAGTGCAGGGGTGCAAACACGGCTCACTGCAGTCTCTACCTTCTGG GCTCAAGCGACCCTCTCACCTCACTCTCCCATGCAGCTGGGACTACAGGC AAATGCCACCACATGTGGCTAATTTTTTGTAGAAATGGGGCCTCACTTTG TTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCCACCTCA GCCGCTCAAAGTGCTGGGATTACTGGCGTGAGCCAATGCACTTGGCCATA AAAGCCCATTCTTCAAGGGCCCACTACCTGAGGGAACCTAGGCAAGTTAT TTACTAATTACTTCATCTGCAAAATGAAGACATCCTCTCTGCAGGCACAT ACATGGTAGATACTCAGTAAACACAAGTTGTTCCATTATTTATTCATCTC ATGCCAGCTAGGGAGAATCTTACCATCACCTGTGATGGTAATCAAACTCT CCAAAGAAATAGTTTGACCTGGGTAACAGAAACCAAGTGCTTAGAATCCT AGTATTTGCACTAAAAAGGACCCTATAGGCAGCAATAGCCTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	100	0.0100	593	c.-8+ others(610): Show c.-8+14825_-8+14826insAAAAGGCTATTGCTGCCTATAGGGTCCT TTTTAGTGCAAATACTAGGATTCTAAGCACTTGGTTTCTGTTACCCAGGT CAAACTATTTCTTTGGAGAGTTTGATTACCATCACAGGTGATGGTAAGAT TCTCCCTAGCTGGCATGAGATGAATAAATAATGGAACAACTTGTGTTTAC TGAGTATCTACCATGTATGTGCCTGCAGAGAGGATGTCTTCATTTTGCAG ATGAAGTAATTAGTAAATAACTTGCCTAGGTTCCCTCAGGTAGTGGGCCC TTGAAGAATGGGCTTTTATGGCCAAGTGCATTGGCTCACGCCAGTAATCC CAGCACTTTGAGCGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTCA AGACCAGCCTGGACAACAAAGTGAGGCCCCATTTCTACAAAAAATTAGCC ACATGTGGTGGCATTTGCCTGTAGTCCCAGCTGCATGGGAGAGTGAGGTG AGAGGGTCGCTTGAGCCCAGAAGGTAGAGACTGCAGTGAGCCGTGTTTGC ACCCCTGCACTCCAGCCTGTGTGACAGAGTGAGACTGTGTCTCCAAAAAA AAAAAAAAAAAAAAA	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	1/19			chr7	TogoVar
EZH2_chr7_148802383_148889291	148869573	A A	AGCAATCC others(586): Show AGCAATCCTCCCACCTCAGCCGCTCAAAGTGCTGGGATTACTGGCGTGAG CCAATGCACTTGGCCATAAAAGCCCATTCTTCAAGGGCCCACTACCTGAG GGAACCTAGGCAAGTTATTTACTAATTACTTCATCTGCAAAATGAAGACA TCCTCTCTGCAGGCACATACATGGTAGATACTCAGTAAACACAAGTTGTT CCATTATTTATTCATCTCATGCCAGCTAGGGAGAATCTTACCATCACCTG TGATGGTAATCAAACTCTCCAAAGAAATAGTTTGACCTGGGTAACAGAAA CCAAGTGCTTAGAATCCTAGTATTTGCACTAAAAAGGACCCTATAGGCAG CAATAGCCTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACACAGTCTCACT CTGTCACACAGGCTGGAGTGCAGGGGTGCAAACACGGCTCACTGCAGTCT CTACCTTCTGGGCTCAAGCGACCCTCTCACCTCACTCTCCCATGCAGCTG GGACTACAGGCAAATGCCACCACATGTGGCTAATTTTTTGTAGAAATGGG GCCTCACTTTGTTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	370	0.0027	593	c.-8+ others(610): Show c.-8+14590_-8+14591insCTGAGCCCAGGAGTTCAAGACCAGCCTG GACAACAAAGTGAGGCCCCATTTCTACAAAAAATTAGCCACATGTGGTGG CATTTGCCTGTAGTCCCAGCTGCATGGGAGAGTGAGGTGAGAGGGTCGCT TGAGCCCAGAAGGTAGAGACTGCAGTGAGCCGTGTTTGCACCCCTGCACT CCAGCCTGTGTGACAGAGTGAGACTGTGTCTCCAAAAAAAAAAAAAAAAA AAAAAAAAGGCTATTGCTGCCTATAGGGTCCTTTTTAGTGCAAATACTAG GATTCTAAGCACTTGGTTTCTGTTACCCAGGTCAAACTATTTCTTTGGAG AGTTTGATTACCATCACAGGTGATGGTAAGATTCTCCCTAGCTGGCATGA GATGAATAAATAATGGAACAACTTGTGTTTACTGAGTATCTACCATGTAT GTGCCTGCAGAGAGGATGTCTTCATTTTGCAGATGAAGTAATTAGTAAAT AACTTGCCTAGGTTCCCTCAGGTAGTGGGCCCTTGAAGAATGGGCTTTTA TGGCCAAGTGCATTGGCTCACGCCAGTAATCCCAGCACTTTGAGCGGCTG AGGTGGGAGGATTGC	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	1/19			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(586): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGGAACCAATACA TACATGGAACATATATATGTGGAACCAATACATACATGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAATACATA TATGCAACATATATATGTGGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	204	0.0049	593	c.-36 others(604): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATAC ATGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATATGCAACATATATATG TGGAACCAATACATATATGCAACATATATATGTGGAACCAATACATATAT GCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(586): Show TAATATATATATATATGGAATATATATATACGGAATGTATATATAATATA TATACGGAATATATATATACGGAATGTATATATAATATATATACGGAATA TATATATACGGAATGTATATATAATATATATACGGAATATATATATACGG AATGTATATATAATATATATACGGAATATATATATACGGAATGTATATAT AATATATATACGGAATATATATATACGGAATGTATATATAATATATATAC GGAATATATATATACGGAATGTATATATAATATATATACGGAATATATAT ATACGGAATGTATATATAATATATATACGGAATATATATATACGGAATGT ATATATAATATATATACGGAATATATATATACGGAATGTATATATAATAT ATATACGGAATATATATATACGGAATGTATATATAATATATATACGGAAT ATATATATACGGAATGTATATATAATATATATACGGAATGTATATATACG GAATGTATATATATGGAATATATATACGGAATGTATATATATGGAATGTA TATATAGGAATATATATATGGAATATATATATGAATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	62	0.0161	593	c.-21 others(604): Show c.-2147_-2146insAATATATATATATATGGAATATATATATACGGAA TGTATATATAATATATATACGGAATATATATATACGGAATGTATATATAA TATATATACGGAATATATATATACGGAATGTATATATAATATATATACGG AATATATATATACGGAATGTATATATAATATATATACGGAATATATATAT ACGGAATGTATATATAATATATATACGGAATATATATATACGGAATGTAT ATATAATATATATACGGAATATATATATACGGAATGTATATATAATATAT ATACGGAATATATATATACGGAATGTATATATAATATATATACGGAATAT ATATATACGGAATGTATATATAATATATATACGGAATATATATATACGGA ATGTATATATAATATATATACGGAATATATATATACGGAATGTATATATA ATATATATACGGAATATATATATACGGAATGTATATATAATATATATACG GAATGTATATATACGGAATGTATATATATGGAATATATATACGGAATGTA TATATATGGAATGTATATATAGGAATATATATATGGAATATATATATGAA TATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(586): Show TAAGAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0149 a0002c0003t0001g0149	1	233	0.0043	593	c.127 others(612): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(586): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCCTCCTCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTC CTCCTCCTCCTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTC CTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCC CCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCC CCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCC ACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	11	0.0909	593	c.10- others(610): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCTCCCCC CCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCCTCCTCCCCATTC TGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCC CTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTT CCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACC TCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCCC TCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(586): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGT GGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGT GGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGT GGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0002	1	220	0.0045	593	c.-43 others(604): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTG AGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG GTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTG AGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG GTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTG AGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG GTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531192	G G	GAGCAGCA others(586): Show GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACA TAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGA CATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTA GACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGG AGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGT GGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGCAGCGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	376	0.0027	593	c.-42 others(604): Show c.-4293_-4292insTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCC GTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGC CCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCT GCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCT	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4160		chr8	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(586): Show ATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATA TAAATATATAAATATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT AGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATT TATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATA TAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTT ATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAA TTTATATAAATGTATAACTATAATTTATAGAAATATAATTTATATAAATA TATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0021 a0021	a0021c0014 a0021c0014	a0021c0014t0001 a0021c0014t0001	a0021c0014t0001g0096 a0021c0014t0001g0096	1	8	0.1250	593	c.342 others(612): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATATAAATATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAAT ATATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAA TTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATA TAATTTATATAAATGTATAACTATAATTTATAGAAATATAATTTATATAA ATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTAT AATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAP3K15_chrX_19355059_19520508	19478096	A A	AGGGGGAG others(586): Show AGGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGAGAGAGGGGGGAGGGGG GAGAGAGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGGGAG GGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGG GGAGGGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGGAGAGA GGGGGGAGGGAGGAGAGGGGGGAGGGGGGAGGGAGGAGAGGGGGGAGGGG GGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGG AGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGGAG AGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGG GAGGGGGGAGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGAGGGGG GGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAG AGGGGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGG GAGGGGGGAGAGGGGGGAGAGAGGGGGAGAGAGGGGGAGAGAGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	146	0.0068	593	c.525 others(610): Show c.525+8385_525+8386insCCTCTCTCCCCCTCTCTCCCCCTCTCTC CCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCCCCC TCTCCCCCCTCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCT CCCCCCTCCCCCCTCCCCCCCTCTCCCCCCTCTCCCCCCTCCCCCCTCTC CCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCC CTCCCCCCTCCCCCCTCTCCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCT CCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCC CCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCTCCCTCCCCCCTCCCCCC TCTCCTCCCTCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCCCC CCTCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCCT CCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCC CCCTCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCTCTCTCCCCCCTC CCCCCTCTCTCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MBD3L3_chr19_7051207_7063676	7061838	T T	TATAATAT others(586): Show TATAATATATAATTATATTCTATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTCTATATTAT ATAATTATAATATAATTATATAATATAATTATATTATATATAATTATATT AAATATATTATATAATATATAATTATATTATATATTATATCATATATAAT TATATTATATATTATATCATATATAATTATATTATATATCATATATAATT ATATTATATATTATATCATATATAATTATATTATATATTATATCATATAT AATTATATTATATATTATATCATATATAATTATATTATATATTATATCAT ATATAATTATATTATATATTATATCATATATAATTATATTATATATTATA ATACATTTAATATAATTATATTATAGATTATAATCTATAATATAATTATA TTAATAGTATTATAATATATAATATATTATATATAATTATATTATAACAT ATTATATATAATTATATTATAGATCATAATCTATAATATAATTATATATA ATATGTTATAATATATAATTATATTCTATATATAATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	283	0.0035	593	c.-32 others(604): Show c.-3234_-3233insTATATATAATTATATATAGAATATAATTATATAT TATAACATATTATATATAATTATATTATAGATTATGATCTATAATATAAT TATATATAATATGTTATAATATAATTATATATAATATATTATATATTATA ATACTATTAATATAATTATATTATAGATTATAATCTATAATATAATTATA TTAAATGTATTATAATATATAATATAATTATATATGATATAATATATAAT ATAATTATATATGATATAATATATAATATAATTATATATGATATAATATA TAATATAATTATATATGATATAATATATAATATAATTATATATGATATAA TATATAATATAATTATATATGATATATAATATAATTATATATGATATAAT ATATAATATAATTATATATGATATAATATATAATATAATTATATATTATA TAATATATTTAATATAATTATATATAATATAATTATATTATATAATTATA TTATAATTATATAATATAGAATATAATTATATATTATATAATTATATTCT ATATAGAATATAATTATATATTATATAATTATATTATATAGAATATAATT ATATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3163		chr19	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(586): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGT GGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGT GGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGT GGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0001 a0004c0005t0001g0001	1	210	0.0048	593	c.26 others(604): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTG AGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG GTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTG AGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG GTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTG AGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG GTGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MINAR1_chr15_79427336_79477304	79438240	A A	ATGGGGTG others(586): Show ATGGGGTGGGTAGTGAGTGTGTGGGGTGTGGATGGGGTGGGTAGTGAGTG TGTGGGGTGTGGATGGGGTGGGTAGTGAGTGTGTGGGGTGTGGGGCTGGT AGTGTGTGGAGTGTGGGGTGGGTAGTGAGTGTGGGGTGTGGGTGTGTAGT GTGTGGGGTGTGGGTGTGAGTGGGTAGTGTGTGGGGTGTGGATGGGGTGG GTAGTGAGTGTGTGGAGTGTGGGGTGGGTAGTGAGTGTGTGGAGTGTGGG TGTGGGTGGGTAGTGTGTGGGGTGTGGGGTGGGTGGGTAGTGTGTGGGGT GTGGGGTGGGTGGGTAGTGTGTGGGGTGTGGGTGTGGGTGGGTAGTGAGT GTGTGGGGTGTGGATGGGGTGGGTAGTGAGTGTGTGGGGTGTGGGTGGGG TGGGTAGTGAGTGGGGTGTGGATGGGGTGGGTAGTGAGGGTGTGGGTGTG GGAGCATAGTGTGTGGGGTGTGGATGGGGTGGGTAGTGAGTGGGTTGTGG ATGGGGTGGGTGGTGAGTGTGTGGGGTGTGGATGGGGTGGGTAGTGAGTG TGTGGGTTGTGGATGGGGTGGGTAGTGAGTGTGTCGGGTATGGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0080 a0001c0007t0007g0080	1	297	0.0034	593	c.-51 others(610): Show c.-51+5761_-51+5762insATGGGGTGGGTAGTGAGTGTGTGGGGTG TGGGGCTGGTAGTGTGTGGAGTGTGGGGTGGGTAGTGAGTGTGGGGTGTG GGTGTGTAGTGTGTGGGGTGTGGGTGTGAGTGGGTAGTGTGTGGGGTGTG GATGGGGTGGGTAGTGAGTGTGTGGAGTGTGGGGTGGGTAGTGAGTGTGT GGAGTGTGGGTGTGGGTGGGTAGTGTGTGGGGTGTGGGGTGGGTGGGTAG TGTGTGGGGTGTGGGGTGGGTGGGTAGTGTGTGGGGTGTGGGTGTGGGTG GGTAGTGAGTGTGTGGGGTGTGGATGGGGTGGGTAGTGAGTGTGTGGGGT GTGGGTGGGGTGGGTAGTGAGTGGGGTGTGGATGGGGTGGGTAGTGAGGG TGTGGGTGTGGGAGCATAGTGTGTGGGGTGTGGATGGGGTGGGTAGTGAG TGGGTTGTGGATGGGGTGGGTGGTGAGTGTGTGGGGTGTGGATGGGGTGG GTAGTGAGTGTGTGGGTTGTGGATGGGGTGGGTAGTGAGTGTGTCGGGTA TGGGTGGGGTGGGTAGTGAGTGTGTGGGGTGTGGATGGGGTGGGTAGTGA GTGTGTGGGGTGTGG	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MMD2_chr7_4900998_4964187	4960054	G G	GTGGGAAG others(586): Show GTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAG TGGGAAGTGGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAG GGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGG GACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAGTGAG GGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGG GGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGG GTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGT TGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTG GGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGG AAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGG AGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGG AGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0172 a0001c0002t0002g0172	1	164	0.0061	593	c.-10 others(604): Show c.-1038_-1037insTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAA CCCCCTCACTCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCCAG GTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAG TCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACACCCCCACTTC CCACTCCCCCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCC CACTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCC CCCCCAACACCCCCACTTCCCACTCCCCCCACCCCCAGGTCCCCCACTCC CTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTCC CACTAACCCCCTCACTCCCCCCCCAACACCCCCACTTCCCACTCCCCCCA CCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAAC CTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACACCC CCACTTCCCACTCCCTCCACCCCCAGGTCCCCCACTCCCTCCAACACCCC CACTTCCCA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		868		chr7	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGAT others(586): Show GTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGC GATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGT GGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGT GGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	4	0.2500	593	c.160 others(610): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACCA CCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCATC ACCACCACCATCACCACCACCACCATCACCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCA CCATCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCAG CAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTACCACTA CCACCACGACTACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCAT CACCACCACCACCATCGCCGCCACCACCACCACCACCACCATCACCACCA TCACCACCATCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
NME4_chr16_392199_405754	397726	C C	CGGGGGGT others(586): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGTGGGGGTG GGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTCGGGGGGTGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	313	0.0032	593	c.91+ others(606): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGTGGGGGTGGG GGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGA GTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTG GGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(586): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG AGAGGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGAGGGAG AAGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGATGG GGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGA GAGGGGAGGGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGG AGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGG GGAGGGGAAGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGG GGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGA GGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGG GAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0255 a0001c0003t0014g0255	1	142	0.0070	593	c.154 others(610): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCTCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATC CCCTCCCCCTCCCCTCTCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCC CTCCCCTCCCCCTCCCCCATCCCCCTCCCCTCCCCCCTCCCCTCCCCCTC CCCCATCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCATCCTCCTCCCTCCCCCTTCTCCGTCCTC CTTCCTCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCC CCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(586): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG AGACGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGAGGGAG AAGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGATGGG GGAGGGGGAGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGA GAGGGGAGGGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGG AGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGG GGAGGGGAAGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGG GGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGA GGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGG GAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0064 a0001c0003t0064	a0001c0003t0064g0215 a0001c0003t0064g0215	1	142	0.0070	593	c.154 others(610): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCTCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATC CCCTCCCCCTCCCCTCTCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCC CCTCCCCTCCCCCTCCCCCATCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCCATCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCATCCTCCTCCCTCCCCCTTCTCCGTCCTC CTTCCTCCTCCCGTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCC CCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(586): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGAG GGAGAGGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGAGGG AGAAGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGATGG GGGAGGGGGAGGGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGGAGGGA GAAGGGAGGGGGAGGGGATGGGGGAGGAGAAGGGAGGGGGAGGGGGAGGA GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGG GAGGGGAAGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGG GAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAG GGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGG AGGAGGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0278 a0001c0004t0001g0278	1	142	0.0070	593	c.154 others(610): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTT CCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCC CCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTT CCCCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCC CCTCCCCCTCCCCCTCTCCTCCCCCTCCCCCTCCCTTCTCCTCCCCCATC CCCTCCCCCTCCCTTCTCCCTCCCCCCTCCCCTCCCCCTCCCCCATCCCC TCCCCCTCCCCCTCCCCCATCCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CCATCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCATCCTCCTCCCTCCCCCTTCTCCGTCCTCCT TCCTCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCCTCCTCCCC CCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(586): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATACATGTATTACATATATGTAT TACATATATAACATACATGTATTACATATATGTATTACATATATAACATA CATGTATTACATATATGTATTACATATATAACATGTATTACATATATGTA ATACATATATAACATGTATTACATATATGTATTACATATATAACATGTAT TACATATATGTATTACATATATGTAATACATATATAACATGTATTACATA TATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTA ATACATATATAACATGTATTACATATATGTAATACACATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	122	0.0082	593	c.70 others(604): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATACATGT ATTACATATATGTATTACATATATAACATACATGTATTACATATATGTAT TACATATATAACATACATGTATTACATATATGTATTACATATATAACATG TATTACATATATGTAATACATATATAACATGTATTACATATATGTATTAC ATATATAACATGTATTACATATATGTATTACATATATGTAATACATATAT AACATGTATTACATATATGTATTACATATATGTAATACATATATAACATG TATTACATATATGTAATACATATATAACATGTATTACATATATGTAATAC ACATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PDIA6_chr2_10778391_10817785	10806650	A A	AGAAAGAA others(586): Show AGAAAGAAAGAAAGAAAAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAGAAAGAAAGAAGAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAGAAAG AAAGAAGAAAGAAAGAAAGAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAGAAGAAGAAGAAGGAAGGAAGGAAGGAAGGAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAA AAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGACAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0148 a0002c0002t0001g0148	1	202	0.0050	593	c.20- others(608): Show c.20-4011_20-4010insCTGTCTTTCTTTCTTTCTTCTTTCTTTCTT TCTTTCTTTCTTTTTTTCTTTTCTTTTCCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTCCTTCCTTCCTTCCTTCCTTCTTCTTCTT CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTTTC TTTCTTTCTTCTTTCTTTCTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTTTCTT TCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTCTTTT CTTTCTTTCTTTC	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PIAS4_chr19_4002736_4044386	4011658	T T	TGGTGTGG others(586): Show TGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGT TTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTTTGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0246 a0001c0004t0003g0246	1	292	0.0034	593	c.28- others(608): Show c.28-1251_28-1250insTGGGGTGTGGAGGTGTGTTTGGTGTGGAGG TGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTG GAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTTTGGTGT GGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTG TGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGT GTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGG TGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PLEKHN1_chr1_961482_980865	976715	C C	CCAACCCC others(586): Show CCAACCCCAGGAACCGCCTCCCACTCCCCCCACAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCA CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	287	0.0035	593	c.21 others(604): Show c.2140_*2141insCAACCCCAGGAACCGCCTCCCACTCCCCCCACAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAAC CGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		851		chr1	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(586): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGGAGAAGGA AGAAGGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAA AGAAGAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGA AGAAGAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGA AGAAGAAGGAAGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGGAAGAAGAA AGAAGAAGGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAG AAGAAGAAGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAA AAGAAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAA GAAGAAGAAAGAAAGAAGAAAGAAAGAAGAAAGAAGAAGAAAGAAGAAAG GAAGAAGAAAAAAGGAAGAGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGG AAGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGAAGAAGGAAGA AGGAAGAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0151 a0009c0013t0001g0151	1	14	0.0714	593	c.147 others(612): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTCCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCTTCTTCC TTCTTCCTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTTCCT CTTCCTTTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTCTTT CTTCTTTCTTTCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCT TCTTCCTTCTTCCTTCTTTTTCTTCCTTCTTGTTCCTTCTTCCTTCTTCT TCCTTCTTCCTTCTTCTTCTTTCTTCCTTCTTCCTTCTCCTTCCTTCTTC CTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCTTCTTT CTTCTTCTTCCTTCTTCTTCTTTCTTCCTTCTTTTTCTTCCTTCTTTTTC CTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTCCTT CTTCCTTCTTCTTCTTCTTTCTGCTTCTTCTTCCTTCTTCTTCCTTCTTC TTCTTTCTTCTTCCTTCTTCCTTCTCCCTTCTTCTTTCTATTTCTTTCTT CTTCTCTCTTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(586): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAGAAGGGAGAAGGAAGAA GGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAAAGAA GAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAA GAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGAAGAA GGAAGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAA AGAAGGAAGAAGAAGGAAGAAGGAAGCAGAAGGAAGAAGGAAGAAAGAAG AAGAAGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAG AAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAA GAAGAAAGAAAGAAGAAAGAAAGAAGAAAGAAGAAGAAAGAAGAAAGGAA GAAGAAAAAAGGAAGAGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAG AAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGAAGAAGGAAGAAGG AAGAAGAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0073 a0002c0003t0001g0073	1	14	0.0714	593	c.147 others(612): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCTTCT TCCTTCTTCCTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTT CCTCTTCCTTTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTC TTTCTTCTTTCTTTCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCT TCTTCTTCCTTCTTCCTTCTTTTTCTTCCTTCTTGTTCCTTCTTCCTTCT TCTTCCTTCTTCCTTCTTCTTCTTTCTTCCTTCTTCCTTCTGCTTCCTTC TTCCTTCTTCTTCCTTCTTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTT CTTCTTTCTTCTTCTTCCTTCTTCTTTCTTCCTTCTTTTTCTTCCTTCTT TTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCT CCTTCTTCCTTCTTCTTCTTCTTTCTGCTTCTTCTTCCTTCTTCTTCCTT CTTCTTCTTTCTTCTTCCTTCTTCCTTCTCCCTTCTTCTATTTCTTTCTT CTTCTCTCTTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(586): Show AAAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAG CAGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAA CCAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATG CGAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGAT GCAAGTGAGTACTTTGTGTGACTGGAGCTCAGGGTACCTGGGAGAAAAAG TAAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACA GGACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAA AGCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTA TTTTGAGCTCCTACTATATATATATATATGTGTATATATATATATATTAT ATATGCATATTATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGG GAATTCTGTTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTC TTATCCATGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG02071.hp2 others(5): Show HG00609.hp1 HG00673.hp1 HG02071.hp2 NA18952.hp1 NA18979.hp2 NA18982.hp2 NA19074.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0009 a0001c0001t0001 a0003c0003t0009	a0001c0001t0001g0009 a0001c0001t0001g0137 a0001c0001t0001g0138 others(5): Show a0001c0001t0001g0009 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0003c0003t0009g0014	8	70	0.1143	593	c.98- others(608): Show c.98-1457_98-1456insATGGGTGTCACTGTCCAGCTCTCAAGGAAT TCATAGACTAGCAGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGA GTGCCACGCAACCAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGA CTAACTCCATGCGAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTG TGTGTTAGGATGCAAGTGAGTACTTTGTGTGACTGGAGCTCAGGGTACCT GGGAGAAAAAGTAAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTA GGCAGGAGACAGGACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGA CTTTATTCCAAAGCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATT CAACCAATGTATTTTGAGCTCCTACTATATATATATATATGTGTATATAT ATATATATTATATATGCATATTATGTTTAGGACACAGCTGAGGAAAAGGG GTTAAAACAGGGAATTCTGTTAGACCCCATTCATTCATCTCTCAGGTGTT TCTTGAGCCTCTTATCCATGTTAGGAACTGTGGTCATTTTGTGGCCACTG AGGACAAAAAAAA	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar

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