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
SMOC2_chr6_168436184_168672992	168561611	C C	CATTCTTG others(409): Show CATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCAC TGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTC ACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTC TCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGC TCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAG GCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACG AGGCTCTCACTGCATTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACA CGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACGAGGCTCTCACTGT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	110	0.0091	416	c.637 others(435): Show c.637+12408_637+12409insATTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTCGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562345	C C	CGGAGGAG others(409): Show CGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTGACTGCGTT TTCGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCA TTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTG TGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCAC TGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTC ACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTC TCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGC TCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAG GCTCTCACTGCATTCTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0106 a0001c0001t0003g0107	2	159	0.0126	416	c.637 others(435): Show c.637+13174_637+13175insGAGGCTCTGACTGCGTTTTCGGAGGA GGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGG AGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTT GGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGTGTTC TCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCAT TCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGT GTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562397	T T	TGGAGGAG others(409): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCA TTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTG TGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCAC TGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTC ACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTC TCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGC TCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAG GCTCTGACTGCGTTTTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	136	0.0074	416	c.637 others(435): Show c.637+13212_637+13213insCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC GAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTGACTGCGTTTTCGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562418	A A	ACCCTGAG others(409): Show ACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGG TGTCACTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAG GAGGTGTCATTTTCCTG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	140	0.0071	416	c.637 others(435): Show c.637+13239_637+13240insCATTCTTGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATT TTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCA TTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGT CATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGT GTCACTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAG GTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGG AGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562418	A A	ACCCTGAG others(409): Show ACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAG GAGGTGTCATTTTCCTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	140	0.0071	416	c.637 others(435): Show c.637+13239_637+13240insCATTCTTGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATT TTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCA TTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGT CATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGT GTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAG GTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGG AGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1056697	G G	GGCGCCAC others(409): Show GGCGCCACGCTGTGGGGAGGGAGGGAGGGAGAGCACGGCGCCCCGCTGTG GGGAGGGAGGGAGGGAGAGCGCAGCGCCACGCTGTGGGGAGGGAGGGAGA GCGTCGCGCTGTGCTGTGGGGCGGGAGGGAGAGGGCGGCGCCACGCTGTG GGGAGGGAGAGAGGGAGAGCACGGCGCCCCGCTGTGGGGAGGGAGGGAGG GAGAGCGCAGCGCCACGCTGTGGGGAGGGAGGGAGAGCGTCGCGCTGTGC TGTGGGGCGGGAGGGAGAGGGCGGCGCCACGCTGTGGGGAGGGAGGGAGG GAGAGCGCGGCGCCCCGCTGTGGGGAGGGAGGGAGGGAGAGCGCAGCGCC ACGCTGTGGGGAGGGAGGGAGGGAGAGCACGGCGCCCCGCTGTGGGGAGG GAGGGAGGGAGAGCGCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0001 a0016c0023t0001	a0016c0023t0001g0049 a0016c0023t0001g0049	1	185	0.0054	416	c.73- others(433): Show c.73-26779_73-26778insCGCTGTGGGGAGGGAGGGAGGGAGAGCG CAGCGCCACGCTGTGGGGAGGGAGGGAGAGCGTCGCGCTGTGCTGTGGGG CGGGAGGGAGAGGGCGGCGCCACGCTGTGGGGAGGGAGAGAGGGAGAGCA CGGCGCCCCGCTGTGGGGAGGGAGGGAGGGAGAGCGCAGCGCCACGCTGT GGGGAGGGAGGGAGAGCGTCGCGCTGTGCTGTGGGGCGGGAGGGAGAGGG CGGCGCCACGCTGTGGGGAGGGAGGGAGGGAGAGCGCGGCGCCCCGCTGT GGGGAGGGAGGGAGGGAGAGCGCAGCGCCACGCTGTGGGGAGGGAGGGAG GGAGAGCACGGCGCCCCGCTGTGGGGAGGGAGGGAGGGAGAGCGCAGCGC CACGCTGTGGGGAGGGAGGGAGGGAGAGCACGGCGCCC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1056697	G G	GGCGCCAC others(409): Show GGCGCCACGCTGTGGGGAGGGAGGGAGGGAGAGCACGGCGCCCCGCTGTG GGGAGGGAGGGAGGGAGAGCGCAGCGCCACGCTGTGGGGAGGGAGGGAGA GCGTCGCGCTGTGCTGTGGGGCGGGAGGGAGAGGGCGGCGCCACGCTGTG GGGAGGGAGAGAGGGAGAGCACGGCGCCCCGCTGTGGGGAGGGAGGGAGG GAGAGCGCAGCGCCACGCTGTGGGGAGGGAGGGAGAGCGTCGCGCTGTGC TGTGGGGCGGGAGGGAGAGGGCGGCGCCACGCTGTGGGGAGGGAGGGAGG GAGAGCGCGGCGCCCCGCTGTGGGGAGGGAGGGAGGGAGAGCGCAGCGCC ACGCTGTGGGGAGGGAGGGAGGGAGAGCGCGGCGCCCCGCTGTGGGGAGG GAGGGAGGGAGAGCGCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0047 a0004c0004t0001g0047	1	185	0.0054	416	c.73- others(433): Show c.73-26779_73-26778insCGCTGTGGGGAGGGAGGGAGGGAGAGCG CAGCGCCACGCTGTGGGGAGGGAGGGAGAGCGTCGCGCTGTGCTGTGGGG CGGGAGGGAGAGGGCGGCGCCACGCTGTGGGGAGGGAGAGAGGGAGAGCA CGGCGCCCCGCTGTGGGGAGGGAGGGAGGGAGAGCGCAGCGCCACGCTGT GGGGAGGGAGGGAGAGCGTCGCGCTGTGCTGTGGGGCGGGAGGGAGAGGG CGGCGCCACGCTGTGGGGAGGGAGGGAGGGAGAGCGCGGCGCCCCGCTGT GGGGAGGGAGGGAGGGAGAGCGCAGCGCCACGCTGTGGGGAGGGAGGGAG GGAGAGCGCGGCGCCCCGCTGTGGGGAGGGAGGGAGGGAGAGCGCAGCGC CACGCTGTGGGGAGGGAGGGAGGGAGAGCACGGCGCCC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1056697	G G	GGCGCCAC others(409): Show GGCGCCACGCTGTGGGGAGGGAGGGAGGGAGAGCACGGCGCCCCGCTGTG GGGAGGGAGGGAGGGAGAGCGCAGCGCCACGCTGTGGGGAGGGAGGGAGA GCGTCGCGCTGTGCTGTGGGGCGGGAGGGAGAGGGCGGCGCCACGCTGTG GGGAGGGAGGGAGGGAGAGCACGGCGCCCCGCTGTGGGGAGGGAGGGAGG GAGAGCGCAGCGCCACGCTGTGGGGAGGGAGGGAGAGCGTCGCGCTGTGC TGTGGGGCGGGAGGGAGAGGGCGGCGCCACGCTGTGGGGAGGGAGGGAGG GAGAGCGCGGCGCCCCGCTGTGGGGAGGGAGGGAGGGAGAGCGCAGCGCC ACGCTGTGGGGAGGGAGGGAGGGAGAGCACGGCGCCCCGCTGTGGGGAGG GAGGGAGGGAGAGCGCA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0068 a0003c0007t0001g0068	1	185	0.0054	416	c.73- others(433): Show c.73-26779_73-26778insCGCTGTGGGGAGGGAGGGAGGGAGAGCG CAGCGCCACGCTGTGGGGAGGGAGGGAGAGCGTCGCGCTGTGCTGTGGGG CGGGAGGGAGAGGGCGGCGCCACGCTGTGGGGAGGGAGGGAGGGAGAGCA CGGCGCCCCGCTGTGGGGAGGGAGGGAGGGAGAGCGCAGCGCCACGCTGT GGGGAGGGAGGGAGAGCGTCGCGCTGTGCTGTGGGGCGGGAGGGAGAGGG CGGCGCCACGCTGTGGGGAGGGAGGGAGGGAGAGCGCGGCGCCCCGCTGT GGGGAGGGAGGGAGGGAGAGCGCAGCGCCACGCTGTGGGGAGGGAGGGAG GGAGAGCACGGCGCCCCGCTGTGGGGAGGGAGGGAGGGAGAGCGCAGCGC CACGCTGTGGGGAGGGAGGGAGGGAGAGCACGGCGCCC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(409): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGGAGGGGGAGGTGGGAGGGGGAGAGGGAGGGGGAGGGGGAAGGG GGAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAAC GGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGG AGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAAGGGGGAGGGGG GAGGGGGAAGGGGGAGGGGGGACGGGGGAGGGGAGATGGGGAGGGGGAGG GGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0107 a0005c0006t0001g0107	1	12	0.0833	416	c.34 others(425): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCATCTCCCCTCCC CCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCATCTCCCCT CCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCC CCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTTCCCCCTCCCCCTCC CTCTCCCCCTCCCACCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(409): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGCGGAGGGGGAGGGGGGAGGTGGAGGGGGAGGGGGAAGG GGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGGAGGGG GAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGAAGCGG GAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGAAGG GGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGG AGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAGGGGG GAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGG GGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0195 a0001c0001t0032g0195	1	12	0.0833	416	c.34 others(425): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCTCCCCCTCCCC CCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTT CCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCGTTCCCGCT TCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCA CCTCCCCCCTCCCCCTCCGCCCTCCCACCTCCCCCTCCCCCTCCCCCTCC CCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(409): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GGAGGGGGAGGTGGGAGGGGGAGAGGGAGGGGGAGGGGGAAGGGGGAGGG GGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGA GGGGAGATGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAAG GGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGG AAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAAGGGGGAGGGGG GAGGGGGAAGGGGGAGGGGGGACGGGGGAGGGGAGATGGGGAGGGGGAGG GGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0108 a0005c0006t0001g0109 a0005c0006t0001g0108 a0005c0006t0001g0109	2	13	0.1538	416	c.34 others(425): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCATC TCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCC CCTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTTCCCCCTCC CCCTCCCTCTCCCCCTCCCACCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(409): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGG GGGGAGGGGAGGGGAGGGGAGGGGGGGGGAGGGGAGGGGGAGGGGGGGAG GGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGG AGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0224 a0002c0002t0001g0224	1	6	0.1667	416	c.138 others(435): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCC TCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCC TCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCC TCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
STK38L_chr12_27239286_27330959	27241748	A A	ATATATAT others(409): Show ATATATATTACATATATGACTCTGTGTAGTTATATATATTACATATATGA CTCTGTGTAGTTATATATATTACATATATGACTCTGTGTAGTTATATATT ACATATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGT TATATATTACATATATGACTCTGTGTAGTTATATATTACATATATGACTC TGTGTAGTTATATATATTACATATATGACTCTGTGTAGTTATATATTACA TATATGACTCTGTATAGTTATATATATTACATATATGACTATGTATAGTT ATATATATTACATATATGACTATGTATAGTTATATATATTACATATATGA CTATGTATAGTTATATATATTACATATATGACTATGTATAGTTATATATA TTACATATATGACTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0036 a0001c0001t0003g0037	2	351	0.0057	416	c.-25 others(427): Show c.-2596_-2595insTATATATTACATATATGACTCTGTGTAGTTATAT ATATTACATATATGACTCTGTGTAGTTATATATATTACATATATGACTCT GTGTAGTTATATATTACATATATGACTCTGTGTAGTTATATATTACATAT ATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATATA TTACATATATGACTCTGTGTAGTTATATATATTACATATATGACTCTGTG TAGTTATATATTACATATATGACTCTGTATAGTTATATATATTACATATA TGACTATGTATAGTTATATATATTACATATATGACTATGTATAGTTATAT ATATTACATATATGACTATGTATAGTTATATATATTACATATATGACTAT GTATAGTTATATATATTACATATATGACTATG	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2537		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241748	A A	ATATATAT others(409): Show ATATATATTACATATATGACTCTGTGTAGTTATATATATTACATATATGA CTCTGTGTAGTTATATATATTACATATATGACTCTGTGTAGTTATATATT ACATATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGT TATATATTACATATATGACTCTGTGTAGTTATATATTACATATATGACTC TGTGTAGTTATATATATTACATATATGACTCTGTGTAGTTATATATTACA TATATGACTCTGTGTAGTTATATATATTACATATATGACTATGTATAGTT ATATATATTACATATATGACTATGTATAGTTATATATATTACATATATGA CTATGTATAGTTATATATATTACATATATGACTATGTATAGTTATATATA TTACATATATGACTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18989.hp1 NA19060.hp2 others(4): Show NA18968.hp2 NA18989.hp1 NA19060.hp2 NA19067.hp1 NA19078.hp2 NA19082.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0026 others(4): Show a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0032	7	356	0.0197	416	c.-25 others(427): Show c.-2596_-2595insTATATATTACATATATGACTCTGTGTAGTTATAT ATATTACATATATGACTCTGTGTAGTTATATATATTACATATATGACTCT GTGTAGTTATATATTACATATATGACTCTGTGTAGTTATATATTACATAT ATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATATA TTACATATATGACTCTGTGTAGTTATATATATTACATATATGACTCTGTG TAGTTATATATTACATATATGACTCTGTGTAGTTATATATATTACATATA TGACTATGTATAGTTATATATATTACATATATGACTATGTATAGTTATAT ATATTACATATATGACTATGTATAGTTATATATATTACATATATGACTAT GTATAGTTATATATATTACATATATGACTATG	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2537		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241748	A A	ATATATAT others(409): Show ATATATATTACATATATGACTCTGTGTAGTTATATATATTACATATATGA CTCTGTGTAGTTATATATATTACATATATGACTCTGTGTAGTTATATATT ACATATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGT TATATATTACATATATGACTCTGTGTAGTTATATATTACATATATGACTC TGTGTAGTTATATATATTACATATATGACTCTGTGTAGTTATATATTACA TATATGACTCTGTGTAGTTATATATATTACATATATGACTATGTGTAGTT ATATATATTACATATATGACTATGTATAGTTATATATATTACATATATGA CTATGTATAGTTATATATATTACATATATGACTATGTATAGTTATATATA TTACATATATGACTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	350	0.0029	416	c.-25 others(427): Show c.-2596_-2595insTATATATTACATATATGACTCTGTGTAGTTATAT ATATTACATATATGACTCTGTGTAGTTATATATATTACATATATGACTCT GTGTAGTTATATATTACATATATGACTCTGTGTAGTTATATATTACATAT ATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATATA TTACATATATGACTCTGTGTAGTTATATATATTACATATATGACTCTGTG TAGTTATATATTACATATATGACTCTGTGTAGTTATATATATTACATATA TGACTATGTGTAGTTATATATATTACATATATGACTATGTATAGTTATAT ATATTACATATATGACTATGTATAGTTATATATATTACATATATGACTAT GTATAGTTATATATATTACATATATGACTATG	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2537		chr12	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(409): Show GATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCATA TATTATATATGATTATAAAATATAATCATATATTATATATGATTATAAAA TATAATTATATATTATATATGATTATAAAATATAATTATATATATTATAT ATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTA TATATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 NA18944.hp1 HG03834.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0024 a0001c0002t0002g0036 a0001c0002t0002g0024 a0001c0002t0002g0036	2	10	0.2000	416	c.75 others(427): Show c.7501_*7502insATTATAAAATATAATCATATATAATATATGATTA TAAAATATAATCATATATTATATATGATTATAAAATATAATCATATATTA TATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAA TTATATATATTATATATGATTATAAAATATAATTATATATTATATATGAT TATAAAATATAATTATATATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(409): Show GATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATTATATATGATTATAAAATATAATTATATATATTATAT ATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTA TATATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01069.hp2 HG01978.hp1 others(14): Show HG00597.hp2 HG01069.hp2 HG01978.hp1 HG02040.hp2 HG02071.hp1 HG02809.hp2 HG03654.hp2 HG03927.hp1 NA18957.hp1 NA18965.hp1 NA18975.hp1 NA19000.hp2 NA19004.hp1 NA19012.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0027 a0001c0002t0028 a0001c0002t0002 a0001c0002t0027 a0001c0002t0028	a0001c0002t0002g0001 a0001c0002t0002g0012 a0001c0002t0002g0015 others(14): Show a0001c0002t0002g0001 a0001c0002t0002g0012 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0019 a0001c0002t0002g0026 a0001c0002t0002g0039 a0001c0002t0002g0042 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0051 a0001c0002t0002g0057 a0001c0002t0002g0066 a0001c0002t0002g0072 a0001c0002t0027g0056 a0001c0002t0028g0086	17	25	0.6800	416	c.75 others(427): Show c.7501_*7502insATTATAAAATATAATCATATATAATATATGATTA TAAAATATAATCATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAA TTATATATATTATATATGATTATAAAATATAATTATATATTATATATGAT TATAAAATATAATTATATATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(409): Show GATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATTATATATGATTATAAAATATAATTATATATATTATAT ATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTA TATATTATATATGATTATATTTTATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	9	0.1111	416	c.75 others(427): Show c.7501_*7502insATTATAAAATATAATCATATATAATATATGATTA TAAAATATAATCATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAA TTATATATATTATATATGATTATAAAATATAATTATATATTATATATGAT TATAAAATATAATTATATATTATATATGATTATATTTTATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(409): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACACGTGTGTGTATATATACACGTGTATATATATACACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0104 a0001c0001t0012g0104	1	87	0.0115	416	c.271 others(433): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTGTA TATATATACACGTGTATATATACACACACGTGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACGTATATATATACACGTA TATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SYK_chr9_90796819_90903549	90884880	T T	TACACATA others(409): Show TACACATATGTGTACATATGTGTATATATACATATATACACATATATATG TATATATACACATATGTGAATATGTATATATGTGTTATATATACACATAT GTGTATATGTATATATACATATATACACATATGTGTATATACACATATAT ACATATACACATATGTGTATATACATATATACATATACACATATGTGTAT ATATACATATATACATATACACATATGTGTATATATACATATATACATAT ACACCTATGTGTATATATAACACATATATACACCTATGTGTATATATAAC ACATATATACACCTATGTGTATATATAACACATATATACACCTATGTGTA TATATAACACATATATACACCTATGTGTATATATACATATATACATATAC ACATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0022 a0001c0012t0022	a0001c0012t0022g0350 a0001c0012t0022g0350	1	220	0.0045	416	c.158 others(435): Show c.1582-2866_1582-2865insCATATGTGTACATATGTGTATATATA CATATATACACATATATATGTATATATACACATATGTGAATATGTATATA TGTGTTATATATACACATATGTGTATATGTATATATACATATATACACAT ATGTGTATATACACATATATACATATACACATATGTGTATATACATATAT ACATATACACATATGTGTATATATACATATATACATATACACATATGTGT ATATATACATATATACATATACACCTATGTGTATATATAACACATATATA CACCTATGTGTATATATAACACATATATACACCTATGTGTATATATAACA CATATATACACCTATGTGTATATATAACACATATATACACCTATGTGTAT ATATACATATATACATATACACATATGTGTATATATAACA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TBC1D1_chr4_37886084_38144173	37978749	G G	GCGGTTTC others(409): Show GCGGTTTCGTACCGAAGAAAAATTGGTAATGCCTACACATTCTGGTTTGA ACTGATAGCTAATTAGTTTTTATAAGTATCGGTGAATTTAAAAACTGTTT TGAAGTTTGAAAAGTAATTCAGTGTGTTGTCTGATTATGTTTTACTTCCT CATCCTAGATTGAAGATTTGAGTCTGCTTTTATATCGTTATACTTTTGTA CTGTAAGGCCAAAGAGAGAAAAAAACAAATTGCGACTCATTTTATTGCAA AACCAATAAGAAGTAAATGTAAATTTTTAAAAACTTACTACTAGTACTGT TTTTTAAGTTTTACTTTTCCAGAACATATTTAGTAAGATGCTATTCATTG TGGGAGTGAGATGGACTTTTGTTTACTTTGGTACAGAGGAAACAGTGAAA ACGCCCCCAACAAAGCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00733.hp1 others(30): Show HG00408.hp1 HG00597.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01175.hp1 HG01346.hp2 HG01496.hp1 HG02015.hp2 HG02071.hp1 HG02602.hp2 HG02647.hp1 HG02735.hp1 HG02896.hp1 HG02897.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp1 NA18747.hp2 NA18970.hp1 NA18970.hp2 NA19003.hp2 NA19084.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0012 a0013 a0016 a0017 a0024 a0028 a0029	a0001c0001 a0001c0005 a0001c0018 others(19): Show a0001c0001 a0001c0005 a0001c0018 a0001c0021 a0002c0002 a0002c0004 a0003c0009 a0003c0020 a0004c0003 a0005c0010 a0005c0017 a0006c0023 a0008c0012 a0009c0011 a0010c0022 a0012c0016 a0013c0031 a0016c0048 a0017c0054 a0024c0053 a0028c0044 a0029c0056	a0001c0001t0011 a0001c0001t0016 a0001c0005t0001 others(24): Show a0001c0001t0011 a0001c0001t0016 a0001c0005t0001 a0001c0005t0025 a0001c0018t0004 a0001c0018t0018 a0001c0021t0019 a0002c0002t0010 a0002c0004t0001 a0002c0004t0007 a0003c0009t0001 a0003c0020t0018 a0003c0020t0036 a0004c0003t0001 a0005c0010t0017 a0005c0017t0002 a0006c0023t0003 a0008c0012t0039 a0009c0011t0002 a0010c0022t0001 a0012c0016t0005 a0013c0031t0001 a0016c0048t0001 a0017c0054t0003 a0024c0053t0001 a0028c0044t0002 a0029c0056t0001	a0001c0001t0011g0117 a0001c0001t0016g0246 a0001c0005t0001g0044 others(30): Show a0001c0001t0011g0117 a0001c0001t0016g0246 a0001c0005t0001g0044 a0001c0005t0025g0010 a0001c0005t0025g0011 a0001c0018t0004g0132 a0001c0018t0018g0172 a0001c0018t0018g0173 a0001c0021t0019g0251 a0002c0002t0010g0307 a0002c0004t0001g0149 a0002c0004t0007g0259 a0003c0009t0001g0233 a0003c0020t0018g0068 a0003c0020t0036g0209 a0004c0003t0001g0075 a0004c0003t0001g0076 a0005c0010t0017g0273 a0005c0017t0002g0034 a0006c0023t0003g0121 a0006c0023t0003g0184 a0008c0012t0039g0042 a0009c0011t0002g0205 a0010c0022t0001g0129 a0012c0016t0005g0064 a0012c0016t0005g0157 a0013c0031t0001g0033 a0013c0031t0001g0036 a0016c0048t0001g0093 a0017c0054t0003g0086 a0024c0053t0001g0080 a0028c0044t0002g0066 a0029c0056t0001g0082	33	301	0.1096	416	c.418 others(435): Show c.418-35760_418-35759insCGGTTTCGTACCGAAGAAAAATTGGT AATGCCTACACATTCTGGTTTGAACTGATAGCTAATTAGTTTTTATAAGT ATCGGTGAATTTAAAAACTGTTTTGAAGTTTGAAAAGTAATTCAGTGTGT TGTCTGATTATGTTTTACTTCCTCATCCTAGATTGAAGATTTGAGTCTGC TTTTATATCGTTATACTTTTGTACTGTAAGGCCAAAGAGAGAAAAAAACA AATTGCGACTCATTTTATTGCAAAACCAATAAGAAGTAAATGTAAATTTT TAAAAACTTACTACTAGTACTGTTTTTTAAGTTTTACTTTTCCAGAACAT ATTTAGTAAGATGCTATTCATTGTGGGAGTGAGATGGACTTTTGTTTACT TTGGTACAGAGGAAACAGTGAAAACGCCCCCAACAAAGCC	TBC1D1	ENSG00000065882.18	transcript	ENST00000698857.1	protein_coding	2/21			chr4	TogoVar
TBC1D1_chr4_37886084_38144173	37978749	G G	GCGGTTTC others(409): Show GCGGTTTCGTACCGAAGAAAAATTGGTAATGCCTACACATTCTGGTTTGA ACTGATAGCTAATTAGTTTTTATAAGTATCGGTGAATTTAAAAACTGTTT TGAAGTTTGAAAAGTAATTCAGTGTGTTGTCTGATTATGTTTTACTTCCT CATCCTAGATTGAAGATTTGAGTCTGCTTTTATATCGTTATACTTTTGTA CTGTAAGGCTAAAGAGAGAAAAAAACAAATTGCGACTCATTTTATTGCAA AACCAATAAGAAGTAAATGTAAATTTTTAAAAACTTACTACTAGTACTGT TTTTTAAGTTTTACTTTTCCAGAACATATTTAGTAAGATGCTATTCATTG TGGGAGTGAGATGGACTTTTGTTTACTTTGGTACAGAGGAAACAGTGAAA ACGCCCCCAACAAAGCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0019 a0001c0021t0019	a0001c0021t0019g0047 a0001c0021t0019g0196 a0001c0021t0019g0047 a0001c0021t0019g0196	2	270	0.0074	416	c.418 others(435): Show c.418-35760_418-35759insCGGTTTCGTACCGAAGAAAAATTGGT AATGCCTACACATTCTGGTTTGAACTGATAGCTAATTAGTTTTTATAAGT ATCGGTGAATTTAAAAACTGTTTTGAAGTTTGAAAAGTAATTCAGTGTGT TGTCTGATTATGTTTTACTTCCTCATCCTAGATTGAAGATTTGAGTCTGC TTTTATATCGTTATACTTTTGTACTGTAAGGCTAAAGAGAGAAAAAAACA AATTGCGACTCATTTTATTGCAAAACCAATAAGAAGTAAATGTAAATTTT TAAAAACTTACTACTAGTACTGTTTTTTAAGTTTTACTTTTCCAGAACAT ATTTAGTAAGATGCTATTCATTGTGGGAGTGAGATGGACTTTTGTTTACT TTGGTACAGAGGAAACAGTGAAAACGCCCCCAACAAAGCC	TBC1D1	ENSG00000065882.18	transcript	ENST00000698857.1	protein_coding	2/21			chr4	TogoVar
TBC1D1_chr4_37886084_38144173	37978749	G G	GCGGTTTC others(409): Show GCGGTTTCGTACCGAAGAAAAATTGGTAATGCCTACACATTCTGGTTTGA ACTGATAGCTAATTAGTTTTTATAAGTATCGGTGACTTTAAAAACTGTTT TGAAGTTTGAAAAGTAATTCAGTGTGTTGTCTGATTATGTTTTACTTCCT CATCCTAGATTGAAGATTTGAGTCTGCTTTTATATCGTTATACTTTTGTA CTGTAAGGCCAAAGAGAGAAAAAAACAAATTGCGACTCATTTTATTGCAA AACCAATAAGAAGTAAATGTAAATTTTTAAAAACTTACTACTAGTACTGT TTTTTAAGTTTTACTTTTCCAGAACATATTTAGTAAGATGCTATTCATTG TGGGAGTGAGATGGACTTTTGTTTACTTTGGTACAGAGGAAACAGTGAAA ACGCCCCCAACAAAGCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG02976.hp2 others(2): Show HG01167.hp1 HG01243.hp1 HG02976.hp2 HG03209.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0009 a0001c0001 a0001c0005 a0003c0009	a0001c0001t0002 a0001c0005t0001 a0003c0009t0007 a0001c0001t0002 a0001c0005t0001 a0003c0009t0007	a0001c0001t0002g0142 a0001c0005t0001g0022 a0001c0005t0001g0045 others(2): Show a0001c0001t0002g0142 a0001c0005t0001g0022 a0001c0005t0001g0045 a0001c0005t0001g0046 a0003c0009t0007g0238	5	273	0.0183	416	c.418 others(435): Show c.418-35760_418-35759insCGGTTTCGTACCGAAGAAAAATTGGT AATGCCTACACATTCTGGTTTGAACTGATAGCTAATTAGTTTTTATAAGT ATCGGTGACTTTAAAAACTGTTTTGAAGTTTGAAAAGTAATTCAGTGTGT TGTCTGATTATGTTTTACTTCCTCATCCTAGATTGAAGATTTGAGTCTGC TTTTATATCGTTATACTTTTGTACTGTAAGGCCAAAGAGAGAAAAAAACA AATTGCGACTCATTTTATTGCAAAACCAATAAGAAGTAAATGTAAATTTT TAAAAACTTACTACTAGTACTGTTTTTTAAGTTTTACTTTTCCAGAACAT ATTTAGTAAGATGCTATTCATTGTGGGAGTGAGATGGACTTTTGTTTACT TTGGTACAGAGGAAACAGTGAAAACGCCCCCAACAAAGCC	TBC1D1	ENSG00000065882.18	transcript	ENST00000698857.1	protein_coding	2/21			chr4	TogoVar
TBCD_chr17_82747065_82950914	82764853	C C	CTGTGTGC others(409): Show CTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGC TCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTC TGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTC TTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGC TTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGT GTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCAT AGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCT TTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTAC AAGCTTGCGGGTGTCTG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19063.hp1 NA18946.hp1 NA19063.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0016 a0001c0001 a0007c0016	a0001c0001t0002 a0007c0016t0001 a0001c0001t0002 a0007c0016t0001	a0001c0001t0002g0262 a0007c0016t0001g0256 a0001c0001t0002g0262 a0007c0016t0001g0256	2	174	0.0115	416	c.333 others(431): Show c.333+795_333+796insTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCT CATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCT GCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCT TACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTG TGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATA GTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TMPRSS6_chr22_37060436_37114713	37097753	C C	CGGCCACC others(409): Show CGGCCACCGTCCTGTAACGGAGGGGGAAGAGCGGGTCACCGTCCTGTAAC GGAGGGGGAGGAGAGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGC CACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAG GGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACC GTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGC AGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCC TGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGA GCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTA ACGGAGGGGCAGGAGCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG03195.hp1 HG01884.hp1 HG02055.hp2 HG03195.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0009 a0001c0020t0001 a0001c0020t0009	a0001c0020t0001g0019 a0001c0020t0009g0018 a0001c0020t0009g0085 a0001c0020t0001g0019 a0001c0020t0009g0018 a0001c0020t0009g0085	3	272	0.0110	416	c.336 others(431): Show c.336+662_336+663insCGCTCCTGCCCCTCCGTTACAGGACGGTGG CCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCG TTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCG CTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTAC AGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCC TGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGA CGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCC CCTCCGTTACAGGACGGTGGCCCTCTCCTCCCCCTCCGTTACAGGACGGT GACCCGCTCTTCCCCCTCCGTTACAGGACGGTGGCC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TP53AIP1_chr11_128930370_128947871	128930756	C C	CAGGGGTT others(409): Show CAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAG GGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGG AGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGC CAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGG GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGG AGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACC AAGGGTCAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	323	0.0031	416	c.48 others(427): Show c.4834_*4835insTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGG CCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTC TCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAACCC CCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTC CCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCC CAGCCTCCCTAACCCCGGCCTCCCTAACCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4613		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930878	G G	GGGTTAGG others(409): Show GGGTTAGGGAGGCTGGGGTTAGGGGTTAGGGAGGCTGGGGTTAGGGAGGC CGGGGTTAGGGAGACCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGG GTTAGGAAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTT AGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCT GGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGG GAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGG CCAGGGTTAGGGAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	371	0.0027	416	c.47 others(427): Show c.4712_*4713insGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCC TCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGG CCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTC CCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTG ACCCTTGGTCTCCCTAACCCCAGCCTTCCTAACCCCCAGCCTCCCTACCC TGGCCTCCCTAACCCCTGGTCTCCCTAACCCCGGCCTCCCTAACCCCAGC CTCCCTAACCCCTAACCCCAGCCTCCCTAACC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4491		chr11	TogoVar
TPCN2_chr11_69043932_69095597	69077371	C C	CTGCCCTC others(409): Show CTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCAC CTGCCCTCCTGCTGTGTCCCTTCACCTGCCCTCCTGCCATGTCCCTCCAC CTGCCCTCTTGCCACGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCATGT CCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCCGTGT CCCTTCACCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCATGT CCCTCCACCTGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCCTCC TGCCATGTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCC TGCCGTGTCCCTCCACCTGCCCTCCTGCTGTGTCCCTTCACCTGCCCTCC TGCCATGTCCCTCCACT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA19068.hp1 NA18985.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	2	9	0.2222	416	c.123 others(435): Show c.1231-1099_1231-1098insATGTCCCTCCACCTGCCCTCCTGCCG TGTCCCTCCACCTGCCCTCCTGCTGTGTCCCTTCACCTGCCCTCCTGCCA TGTCCCTCCACCTGCCCTCTTGCCACGTCCCTCCACCTGCCCTCCTGCCC TCCTGCCATGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCC TCCTGCCGTGTCCCTTCACCTGCCCTCCTGCCATGTCCCTCCACCTGCCC TCCTGCCATGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCCACCTGCCC TCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCATGTCCCTCC ACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCTGTGTCCCTTC ACCTGCCCTCCTGCCATGTCCCTCCACTTGCCCTCCTGCC	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507507	G G	GTATTATA others(409): Show GTATTATACATACGTAAATGTATATATGTATATATACATTATACATACGT AAATGTATATATGTATATATACATTATACATACGTAAATGTATATATGTA TATATACATTATACATACGTAAATGTATAATGTATATATACATTATACAT ACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATG TATATATACATTATACATACGTAAATGTATAATGTATATATACATTATAC ATACGTAAATGTATGTATATATACATTATACATACGTAAATGTATTATAC ATAAATGTATATATGTATATATACATGTATTATACATACATAAATGTATA TATGTATATATACATGTATTATACATACATAAATGTATATATGTATATAT ACATGTATGCACGTATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG00735.hp1 others(14): Show HG00642.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01256.hp2 HG01346.hp1 HG01361.hp2 HG01943.hp1 HG01978.hp1 HG02148.hp2 HG03942.hp1 HG04115.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0056 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0281	17	286	0.0594	416	c.-23 others(433): Show c.-23+2540_-23+2541insTATACGTGCATACATGTATATATACATA TATACATTTATGTATGTATAATACATGTATATATACATATATACATTTAT GTATGTATAATACATGTATATATACATATATACATTTATGTATAATACAT TTACGTATGTATAATGTATATATACATACATTTACGTATGTATAATGTAT ATATACATTATACATTTACGTATGTATAATGTATATATACATTATACATT TACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGT ATATATACATTATACATTTACGTATGTATAATGTATATATACATATATAC ATTTACGTATGTATAATGTATATATACATATATACATTTACGTATGTATA ATGTATATATACATATATACATTTACGTATGTATAATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TTN_chr2_178520989_178812423	178757157	A A	ACAGTAAG others(409): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAATACTGTACTTACT TTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATAC TGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19070.hp1 NA18980.hp2 NA19070.hp1	a0025 a0175 a0025 a0175	a0025c0020 a0175c0165 a0025c0020 a0175c0165	a0025c0020t0001 a0175c0165t0002 a0025c0020t0001 a0175c0165t0002	a0025c0020t0001g0021 a0175c0165t0002g0022 a0025c0020t0001g0021 a0175c0165t0002g0022	2	219	0.0091	416	c.106 others(435): Show c.10679-361_10679-360insCACTTAAAGTAAGTACAGTATTACTT ACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTAC AGTATTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGT AAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTG CACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTA TTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGT AAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTG TACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTA TTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362			chr2	TogoVar
TTN_chr2_178520989_178812423	178757157	A A	ACAGTAAG others(409): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAATACTGTACTTACT TTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATAC TGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0031 a0031	a0031c0062 a0031c0062	a0031c0062t0001 a0031c0062t0001	a0031c0062t0001g0178 a0031c0062t0001g0178	1	218	0.0046	416	c.106 others(435): Show c.10679-361_10679-360insCACTTAAAGTAAGTACAGTATTACTT ACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTAC AGTATTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGT AAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTG CACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTA TTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGT AAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTG TACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTA TTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362			chr2	TogoVar
TTN_chr2_178739405_178812423	178757157	A A	ACAGTAAG others(409): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAATACTGTACTTACT TTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATAC TGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19070.hp1 NA18980.hp2 NA19070.hp1	a0007 a0027 a0007 a0027	a0007c0008 a0027c0031 a0007c0008 a0027c0031	a0007c0008t0003 a0027c0031t0003 a0007c0008t0003 a0027c0031t0003	a0007c0008t0003g0061 a0027c0031t0003g0060 a0007c0008t0003g0061 a0027c0031t0003g0060	2	335	0.0060	416	c.103 others(437): Show c.10303+1826_10303+1827insCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAA GTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTAC TGCACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAG TATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAA GTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTAC TGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAG TATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45			chr2	TogoVar
TTN_chr2_178739405_178812423	178757157	A A	ACAGTAAG others(409): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAATACTGTACTTACT TTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATAC TGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0003 a0018c0027t0003	a0018c0027t0003g0241 a0018c0027t0003g0241	1	334	0.0030	416	c.103 others(437): Show c.10303+1826_10303+1827insCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAA GTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTAC TGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAG TATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAA GTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTAC TGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAG TATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870126	A A	ACACACCA others(409): Show ACACACCACACAAACCACACACCCCACACACACCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACACCCCCCACACACCACACC CCATACACACCACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACACCCCCCACACACCACACCCCATACACACCACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACACCCC CCACACACCACACAAACCACACACCCCACACACACCACACACACCACACC CCACACACACCACACACCCCACACACACCACACCCCATACACACCACACC CCACACACACCACACCC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	290	0.0034	416	c.35 others(435): Show c.35+21398_*35+21399insCACACAAACCACACACCCCACACACA CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACA CCCCCCACACACCACACCCCATACACACCACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCCACACACACCACACACCCCCCACACACCACACCCCATACACA CCACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACACACCCCCCACACACCACACAAACCACACACCCCACACA CACCACACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCCATACACACCACACCCCACACACACCACACCCCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGAGGCT others(409): Show CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAT GGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGG GGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19012.hp1 NA18947.hp1 NA19012.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0223 a0001c0003t0003g0240 a0001c0003t0003g0223 a0001c0003t0003g0240	2	69	0.0290	416	c.218 others(433): Show c.2182+106_2182+107insGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGG ATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UPF3A_chr13_114276601_114310817	114295372	G G	GTGCTCCC others(409): Show GTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCT CCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGC TCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAG CGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCC CAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGC TCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGC TCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTG GCGTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGT CTCCAGCGGCTCTGGCC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	287	0.0035	416	c.847 others(433): Show c.847-3446_847-3445insAGCTCTGGCCTGCTCCCCAGCTCGTCTC CAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCT CCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGC GGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCCTGCTCCCC AGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCTCGTCTCCAGCGGCT CTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGGCGTGCTCCCCAGCT CGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGCGGCTCTGG CGTGCTCCCCAGCTCGTCTCCAGCAGCTCTGGCCTGCTCCCCAGCTCGTC TCCAGCGGCTCTGGCCTGCTCCCCAGCTCGTCTCCAGC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
VCX3B_chrX_8459830_8471510	8467055	A A	AGGTGTGT others(409): Show AGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGA GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGGAGGAAGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0008 a0005c0004t0001g0008	1	164	0.0061	416	c.67 others(425): Show c.672_*673insGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGG AGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGGAGGAAGAGGT	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		546		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(409): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATATATCTATCGATAGATAGATAGATGTATCTATCGATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	301	0.0033	416	c.53+ others(431): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATATATCTATCGATAG ATAGATAGATGTATCTATCGATCGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
XG_chrX_2747040_2821500	2773518	A A	AGAAGGAA others(409): Show AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	302	0.0033	416	c.104 others(433): Show c.104-1071_104-1070insAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
XG_chrX_2747040_2821500	2773534	A A	AGAAGGAA others(409): Show AGAAGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAG AGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG CGAAGGAAGGAAGGAGC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	304	0.0033	416	c.104 others(433): Show c.104-1164_104-1163insGGGAAGGAAGGAGAGAGGGAAGGAAGGA GAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGA GAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGA AGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAG GAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGA AGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAG GAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGA AGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAG GAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGA	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCTTC others(409): Show CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCC CCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCATTCCCCCTTCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCACCCTTCCCCCTTCCTCCCTTTCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0226 a0001c0001t0004g0226	1	182	0.0055	416	c.-10 others(433): Show c.-10-3220_-10-3219insTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCGTT CCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCC CCATTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCACCCTTCCCCCTTCCTCCCTTTCCC CTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZC3H12B_chrX_65029826_65512887	65450478	T T	TATATATG others(409): Show TATATATGTATATATGTACATATGTATATATATGTATATATGTACATATG TATATATATGTATATATGTATATATACATATGTATATATATGTACATATG TATATATATACATGTATACATATGTATACATGTATATATATACATATGTA TACATGTATATATGTATATATATACATGTATACATATGTATATATGTATA CATATGTATATATGTATATATGTATAAATATACATATGTATATATATGTA TATATGTATACATATGTATATATACATATGTATATATATGTATATATGTA TACATATGTATATATACATATGTATATATATGTATACATATGCATATATA CATATGTATATATATGTATATATGTATACATATGTATATATGCATATATA TACATATGTATATATGC	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18962.hp1 NA19075.hp1 HG02083.hp1 NA18962.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0048 a0001c0001t0001g0071 a0001c0001t0001g0073	3	149	0.0201	416	c.-15 others(437): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATATATGTATAAAT ATACATATGTATATATATGTATATATGTATACATATGTATATATACATAT GTATATATATGTATATATGTATACATATGTATATATACATATGTATATAT ATGTATACATATGCATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATGCATATATATACATATGTATATATGCATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65450478	T T	TATATATG others(409): Show TATATATGTATATATGTACATATGTATATATATGTATATATGTACATATG TATATATATGTATATATGTATATATACATATGTATATATATGTACATATG TGTATATATACATGTATACATATGTATACATGTATATATATACATATGTA TACATGTATATATGTATATATATACATGTATACATATGTATATATGTATA CATATGTATATATGTATATATGTATAAATATACATATGTATATATATGTA TATATGTATACATATGTATATATACATATGTATATATATGTATATATGTA TACATATGTATATATACATATGTATATATATGTATACATATGCATATATA CATATGTATATATATGTATATATGTATACATATGTATATATGCATATATA TACATATGTATATATGC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	147	0.0068	416	c.-15 others(437): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTGTATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATATATGTATAAAT ATACATATGTATATATATGTATATATGTATACATATGTATATATACATAT GTATATATATGTATATATGTATACATATGTATATATACATATGTATATAT ATGTATACATATGCATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATGCATATATATACATATGTATATATGCATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZDHHC20_chr13_21367571_21464303	21377227	C C	CGATCTGA others(409): Show CGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGTGATCTGA CTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGTGATCTGACTGCCCGA CATGACCTCCACCCCTAGTGCCTGTGATCTGACTCTGCCCGACGTGACCT CCACCCCTAGTGCCTGTGATCTGACTCTGCCCGACGTGACCTCCACCCCT AGTGCCTGTGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTG TGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGTGATCTGA CTGCCCGACATGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCGA CGTGACCTCCACCCCTAGTGCCTGTGATCTGACTCTGCCCGACGTGACCT CCACCCCTAGTGCCTGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0034 a0001c0001t0035g0034	1	267	0.0037	416	c.41 others(431): Show c.41-573_*41-572insACAGGCACTAGGGGTGGAGGTCACGTCGGG CAGAGTCAGATCACAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCA GATCGCAGGCACTAGGGGTGGAGGTCATGTCGGGCAGTCAGATCACAGGC ACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCACAGGCACTAGGGG TGGAGGTCACGTCGGGCAGAGTCAGATCACAGGCACTAGGGGTGGAGGTC ACGTCGGGCAGAGTCAGATCACAGGCACTAGGGGTGGAGGTCACGTCGGG CAGAGTCAGATCACAGGCACTAGGGGTGGAGGTCATGTCGGGCAGTCAGA TCACAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCACAGGC ACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATC	ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	12/12			chr13	TogoVar
ZNF667_chr19_56434329_56482345	56444530	T T	TCCACCCC others(409): Show TCCACCCCCATGATCCAATCACCTCCCACCAGACCCCACCTCCAACACTG AGGATTAAATTTCAACATGAGATTTGGTGAGAAATCCACCCCCATGATCC AATCACCTCCCACAGACCCCACCTCCAACACTGAGGATTAAATTTCAACA TGAGATTTGGTGAGAAACCCACCCCCATGATCCAATCACCTCCCACAGAC CCCACCTCCAACACTGAGGATTAAATTTCAACATGAGATTTGGTGAGAAA TCCACCCCCATGATCCAATCACCTCCCACAGACCCCACCTCCAACACTGA GGATTAAATTTCAACATGAGATTTGGTGAGAAATCCACCCCCATGATCCA ATCACCTCCCACAGACCCCACCTCCAACACTGAGGATTAAATTTCAACAT GAGATTTGGTGAGAAAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02486.hp2 others(6): Show HG01884.hp1 HG01891.hp2 HG02486.hp2 HG02630.hp2 HG02647.hp2 HG02895.hp1 HG03209.hp1 HG06807.hp2 NA19030.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0008 a0003c0005t0020 others(1): Show a0003c0005t0005 a0003c0005t0008 a0003c0005t0020 a0003c0005t0021	a0003c0005t0005g0249 a0003c0005t0008g0022 a0003c0005t0008g0207 others(4): Show a0003c0005t0005g0249 a0003c0005t0008g0022 a0003c0005t0008g0207 a0003c0005t0008g0208 a0003c0005t0008g0210 a0003c0005t0020g0048 a0003c0005t0021g0209	9	359	0.0251	416	c.254 others(433): Show c.254-1790_254-1789insGTTTCTCACCAAATCTCATGTTGAAATT TAATCCTCAGTGTTGGAGGTGGGGTCTGTGGGAGGTGATTGGATCATGGG GGTGGATTTCTCACCAAATCTCATGTTGAAATTTAATCCTCAGTGTTGGA GGTGGGGTCTGTGGGAGGTGATTGGATCATGGGGGTGGATTTCTCACCAA ATCTCATGTTGAAATTTAATCCTCAGTGTTGGAGGTGGGGTCTGTGGGAG GTGATTGGATCATGGGGGTGGGTTTCTCACCAAATCTCATGTTGAAATTT AATCCTCAGTGTTGGAGGTGGGGTCTGTGGGAGGTGATTGGATCATGGGG GTGGATTTCTCACCAAATCTCATGTTGAAATTTAATCCTCAGTGTTGGAG GTGGGGTCTGGTGGGAGGTGATTGGATCATGGGGGTGG	ZNF667	ENSG00000198046.13	transcript	ENST00000504904.8	protein_coding	6/6			chr19	TogoVar
ZNF667_chr19_56434329_56482345	56444545	C C	TAATCACC others(409): Show TAATCACCTCCCACCAGACCCCACCTCCAACACTGAGGATTAAATTTCAA CATGAGATTTGGTGAGAAATCCACCCCCATGATCCAATCACCTCCCACAG ACCCCACCTCCAACACTGAGGATTAAATTTCAACATGAGATTTGGTGAGA AACCCACCCCCATGATCCAATCACCTCCCACAGACCCCACCTCCAACACT GAGGATTAAATTTCAACATGAGATTTGGTGAGAAATCCACCCCCATGATC CAATCACCTCCCACAGACCCCACCTCCAACACTGAGGATTAAATTTCAAC ATGAGATTTGGTGAGAAATCCACCCCCATGATCCAATCACCTCCCACAGA CCCCACCTCCAACACTGAGGATTAAATTTCAACATGAGATTTGGTGAGAA ACCCACCCCCATGATCC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0044 a0003c0005t0005g0044	2	360	0.0056	416	c.254 others(433): Show c.254-1804_254-1803insGATCATGGGGGTGGGTTTCTCACCAAAT CTCATGTTGAAATTTAATCCTCAGTGTTGGAGGTGGGGTCTGTGGGAGGT GATTGGATCATGGGGGTGGATTTCTCACCAAATCTCATGTTGAAATTTAA TCCTCAGTGTTGGAGGTGGGGTCTGTGGGAGGTGATTGGATCATGGGGGT GGATTTCTCACCAAATCTCATGTTGAAATTTAATCCTCAGTGTTGGAGGT GGGGTCTGTGGGAGGTGATTGGATCATGGGGGTGGGTTTCTCACCAAATC TCATGTTGAAATTTAATCCTCAGTGTTGGAGGTGGGGTCTGTGGGAGGTG ATTGGATCATGGGGGTGGATTTCTCACCAAATCTCATGTTGAAATTTAAT CCTCAGTGTTGGAGGTGGGGTCTGGTGGGAGGTGATTA	ZNF667	ENSG00000198046.13	transcript	ENST00000504904.8	protein_coding	6/6			chr19	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(409): Show TTCTATATATATAAATATATATATATTTCTATATATATAAATATATATAT TTATATATATAGAAATATATATATATTTATATATATATAAATATATATAT TTATATATATATAAATATATATATTTATATATATATAAATATATATATAT TTCTATATATATATAAATATATATATATTTCTATATATATAAATATATAT ATATATAAATATATATATAAATATATATTTATATATATATAAATATATAT ATATAAATATATATAAATATATATATATTTATATATATAAATATATATAT ATTTATATATATAAATAAATATATATTTATATATATAAATAAATATATAT TTATATATATAAATATATATATTTTTATATATATAAATATATATATTTTT ATATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp2 HG01109.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	2	60	0.0333	416	c.532 others(431): Show c.532+446_532+447insTATATATTTATATATATAAAAATATATATA TTTATATATATAAAAATATATATATTTATATATATAAATATATATTTATT TATATATATAAATATATATTTATTTATATATATAAATATATATATATTTA TATATATAAATATATATATATTTATATATATTTATATATATATATTTATA TATATATAAATATATATTTATATATATATTTATATATATATATATTTATA TATATAGAAATATATATATATTTATATATATATAGAAATATATATATATT TATATATATATAAATATATATATTTATATATATATAAATATATATATTTA TATATATATAAATATATATATATTTCTATATATATAAATATATATATTTA TATATATAGAAATATATATATATTTATATATATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20566673	A A	ATATATAC others(410): Show ATATATACTATATATACTATATACTATATATAATATATACTATATATACT ATATATAGTATATACTATATATAATATATACTATATATACTATATATAGT ATATATACTATATATAGTATATATACTATATATAGTATATACAGTATATA CTATATATAGTATATATACTATATATAGTATATACAGTATATATAGTATA TACTATATATACTATATATAGTATATATAGTATATATTATATATAGTATA TAGTATATATAGTATATATATACTATATATAGTATATATAGTATATATAG TATATACTATATATAGTATATATAGTATATATTATATATAGTATATAGTA TATATAATATATACTATATATACTATATATAGTATATATACTATATATAG TATATATACTATATATAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0094 a0004c0005t0006g0094	1	300	0.0033	417	c.-8- others(432): Show c.-8-1821_-8-1820insCTATATATAGTATATATACTATATATAGTA TATATACTATATATAGTATATATAGTATATATTATATATACTATATACTA TATATAATATATACTATATATACTATATATAGTATATACTATATATACTA TATATACTATATATAGTATATATATACTATATATACTATATACTATATAT AATATATACTATATATACTATATATAGTATATATAGTATATACTATATAT ACTGTATATACTATATATAGTATATATACTATATATAGTATATACTGTAT ATACTATATATAGTATATATACTATATATAGTATATATACTATATATAGT ATATATAGTATATATTATATATAGTATATACTATATATAGTATATATAGT ATATATTATATATAGTATATAGTATATATAGTATATA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(410): Show AGGGGAAGAGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGAGGGGAGGG GGAGGAGGGAGGAGGGGAAGAGGGGAGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	30	0.0333	417	c.51 others(428): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCC TCCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCC TCCCCTCCTCCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCTCCCCCCT CCCCTCCTCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(410): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG AGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0044 a0001c0001t0010g0044	1	30	0.0333	417	c.51 others(428): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCC CTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCC TCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCTCCCCCTCCCCCCTC CCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar

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