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
ADGRA1_chr10_133082924_133136675	133111927	C C	CACCACAG others(581): Show CACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAG ACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCC CTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCTGCCAT GGGCATCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCT CCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTA ATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACC AGACAACCTGCCTGCCATGGGCATCTCCCTCCTAATCCCACCAGACAACC TGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACC ACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0314 a0001c0003t0009g0314	1	357	0.0028	588	c.401 others(605): Show c.401+9085_401+9086insACCACAGACACCTCCCTCCTAATCCCTC CAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAAC CTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCAC CACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACA CCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTC CTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCC ACCAGACAACCTGCCTGCCATGGGCATCTCCCTCCTAATCCCACCAGACA ACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACCACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGG CACCTCCCTCCTAATCCCACCAGACAACCTGCCTGCCATGGGCATCTCCC TCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATC CCACCAGACCACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGA CAACCTGCCT	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111934	A A	AGCACCTC others(581): Show AGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTC CCTCCTAATCCCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAA TCCCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCA GACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCT GCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCA CAGACACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCACGGACACC TCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCT AATCCCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCTC CAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCAC CTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCA CCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0280 a0001c0001t0003g0280	1	93	0.0108	588	c.401 others(605): Show c.401+9132_401+9133insGGGCACCTCCCTCCTAATCCCTCCAGAC AACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGCC CACCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGG GCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCC CTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAAT GCCTCCAGACCACCTGCCCACCACGGACACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTG CCCACCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCT CCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCC AGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACC TGCCCACCAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111975	A A	AGGCACCT others(581): Show AGGCACCTCCCTCCTAATCCCCCCAGACAACCTGCCCACCACAGGCACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTA ATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACC AGACCACCTGCCCGCCACGGGCACCTCCCTCCTAATCCCACCAGACAACC TGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACC ACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCAC CTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCC TAATCCCCCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCA CCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCA CCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCA CCACAGGCACCTCCCTCCTAATCCCCCCAGACAACCTGCCCACCACGGGC ACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0004 a0001c0019t0004	a0001c0019t0004g0150 a0001c0019t0004g0150	1	190	0.0053	588	c.401 others(605): Show c.401+9150_401+9151insCCCCCCAGACAACCTGCCCACCACAGGC ACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCT CCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCC CACCAGACCACCTGCCCGCCACGGGCACCTCCCTCCTAATCCCACCAGAC AACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCC CACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAG GCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCC CTCCTAATCCCCCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACAGGCACCTCCCTCCTAATCCCCCCAGACAACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCT CCCTCCTAAT	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113434889	A A	AGCATCCA others(581): Show AGCATCCACACGTAGAGTGAACATAGGTGTACCCCGTGACCCAGCATCCA GGTGCAGGATGAACATAGGTGTACCCTGGGACCCAGCACCCAGGCGTAGA GTGAACATAGGTGTACCCTGGGACCCAGCACCCAGGCGTAGAGTGAACAT AGGTGTACCCTGTGACCCAGCACCCACACGTAGAGTGAACATAGGTGTAC CCCGGGACCCAGCATCCACATGTAGAGTGAACACAGGTGTACCCCGGGAC CCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCGGCACC CAGGTGTAGAGTGAACATAGGTGTACCCTGGGACCCAGCACCCACATGTA GAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAAC ATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGT ACCCTGGGACCCAGCATCCAGGCGTAGAGTGAACATAGGTGTACCCCGGG ACCCGGCACCCACGCATAGAGTGAACATAGGTGTACCCCGGGACCCGGTA CCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0021 a0021	a0021c0038 a0021c0038	a0021c0038t0016 a0021c0038t0016	a0021c0038t0016g0034 a0021c0038t0016g0034	1	175	0.0057	588	c.380 others(605): Show c.380-1023_380-1022insCGGGTCCCGGGGTACACCTATGTTCACT CTACACCTGGGTACCGGGTCCCGGGGTACACCTATGTTCACTCTATGCGT GGGTGCCGGGTCCCGGGGTACACCTATGTTCACTCTACGCCTGGATGCTG GGTCCCAGGGTACACCTATGTTCACTCTACACCTGGGTGCCGGGTCCCGG GGTACACCTATGTTCACTCTACACCTGGGTGCCGGGTCCCGGGGTACACC TGTGTTCACTCTACATGTGGGTGCTGGGTCCCAGGGTACACCTATGTTCA CTCTACACCTGGGTGCCGGGTCCCGGGGTACACCTATGTTCACTCTACAC CTGGGTGCCGGGTCCCGGGGTACACCTGTGTTCACTCTACATGTGGATGC TGGGTCCCGGGGTACACCTATGTTCACTCTACGTGTGGGTGCTGGGTCAC AGGGTACACCTATGTTCACTCTACGCCTGGGTGCTGGGTCCCAGGGTACA CCTATGTTCACTCTACGCCTGGGTGCTGGGTCCCAGGGTACACCTATGTT CATCCTGCACCTGGATGCTGGGTCACGGGGTACACCTATGTTCACTCTAC GTGTGGATGC	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
AHRR_chr5_316714_443285	376544	G G	GTGAATGA others(581): Show GTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATG TGAATGAATGAGAACCGTGGGGTGAACGCGGAGAAACACAGGAAAGATGT GAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTG AATGAATGAGAACCGTGGGGTGAACGCGGAGAAACACAGGAAAGATGTGA ATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAA TGAATGAGAACCGTGGGGTGAACGCGGAGAAACACAGGAAAGATGTGAAT GAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATG AATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGA ATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAA TGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAAT GAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATG AGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0026 a0001c0001t0044g0026	1	265	0.0038	588	c.245 others(601): Show c.245-58_245-57insTGAGAACCGTGGGGTGAACGCGGGGAAACACA GGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGAGAAACACAG GAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGG AAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGAGAAACACAGGA AAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAA AGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGAGAAACACAGGAAA GATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAG ATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGA TGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGAT GTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATG TGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGT GAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATATG AATGAA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391672	G G	GCAGGGCG others(581): Show GCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGACA CAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGCGC AGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCA GGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGCGCAG GGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCATGGGCGCAGG GCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGG CGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGC GAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCG AGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGA GGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAG GCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGG AGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0039 a0005c0005t0039	a0005c0005t0039g0250 a0005c0005t0039g0250	1	202	0.0050	588	c.351 others(607): Show c.351+14999_351+15000insCGGACACAGGGCGAGGAGGGCGCAGG GTGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGG CGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGCGGGCGCAGGGT GAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCG AGGCAGGGCCAGAGCGTGCATGGGCGCAGGGCGAGGAGGGCGCAGGGCGA GGCAGGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAG GCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGG CAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGC AGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGCGAGGCA GGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAG GGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGG GCCAGAGCGTGCACGGACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGG CCAGAGCGTGCA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(581): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGA GGGGGAGGGGGAGGGGGGGAGGAGGGGGGGAGGAGGAGGGGGGAGGAGGG GGGGAGGAGGGGGGGAGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGG GGGGAGGAGGAGGGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAG GAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGA GGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAG GAGGAGGAGGAGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGGGA GGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	183	0.0055	588	c.125 others(609): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCCCCTCCTCC TCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCT CCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCCC TCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTC CTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCT CCTCCCCCTCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCT CCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCC CCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTC CTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCT TTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCC CTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCC CTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(581): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGA GGGGGAGGGGGAGGGGGGGAGGAGGGGGGGAGGAGGAGGGGGGAGGAGGG GGGGAGGAGGGGGGGAGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGG GGGGAGGAGGAGGGGGGGAGGAGGGGGGGGAGGAGGAGGAGGGGGAGGAG GAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGA GGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAG GAGGAGGAGGAGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGGGA GGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	183	0.0055	588	c.125 others(609): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCCCCTCCTCC TCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCT CCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCCC TCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTC CTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCCCCTCCTCCC CCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCT CCTCCCCCTCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCT CCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCC CCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTC CTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCT TTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCC CTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCC CTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(581): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGGAGGAGGAGGAGGGGGAGGAGGAGGAGAAGGGGAGGAGGAGGGGGA GGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGA GGAGGGGGGGAGGAGGAGGGGGGAGGAGGGGGGGAGGAGGGGGGAGGAGG GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGG GGGAGGAGGAGGAGGGGGAGGAGGAGGGGGGGGAGGAGGAGGGGGGGAGG AGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAG GGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGAG GAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGG AGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0009 a0001c0001t0012g0009	1	183	0.0055	588	c.125 others(609): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCCCCTCCTCC TCCTCCCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCT CCTCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCC CTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCC CCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCTC CTCCTCCCCCCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCC CCCTCCTCCCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCC TCCTCCTCCTCCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCT TTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCC CTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCC CTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ANKRD11_chr16_89262630_89495561	89429194	A A	ACGTTCTA others(581): Show ACGTTCTAGTACACAGCAGGGATTCTCAACTCTCACGCTCAGACGTTCTA GTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAG CAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGTACT CTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTC TCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTC AGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTC TAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACAC AGCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGA CTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGTACTCTCAAC TCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGC TCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGT TCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0288 a0004c0004t0001g0288	1	300	0.0033	588	c.-14 others(609): Show c.-144-10827_-144-10826insACTGAGCGTGAGAGTTGAGAGTCC CTGCTGTGTACTAGAACGACTGAGCGTGAGAGTTGAGAGTCCCTGCTGTG TACTAGAACGTCTGAGCGCGAGAGTTGAGAGTCCCTGCTGTGTACTAGAA CGTCTGAGCGCGAGAGTTGAGAGTACCTGCTGTGTACTAGAACGTCTGAG CGTGAGAGTTGAGAGTCCCTGCTGTGTACTAGAACGTCTGAGCGCGAGAG TTGAGAGTCCCTGCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGAGAGT CCCTGCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGAGAGTCCCTGCTG TGTACTAGAACGTCTGAGCGTGAGAGTTGAGAGTCCCTGCTGTGTACTAG AACGTCTGAGCGCGAGAGTTGAGAGTCCCTGCTGTGTACTAGAACGTCTG AGCGCGAGAGTTGAGAGTACCTGCTGTGTACTAGAACGTCTGAGCGTGAG AGTTGAGAGTCCCTGCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGAGA GTCCCTGCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGAGAATCCCTGC TGTGTACTAGAACG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89429194	A A	ACGTTCTA others(581): Show ACGTTCTAGTACACAGCAGGGATTCTCAACTCTCACGCTCAGACGTTCTA GTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAG CAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGTACT CTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTC TCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTC AGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTC TAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACAC AGCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGA CTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGTACTCTCAAC TCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGC TCAGACGTTCTAGTACACAGCAGGGATTCTCAACTCTCACGCTCAGTCGT TCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19005.hp1 NA18975.hp2 NA19005.hp1	a0001 a0031 a0001 a0031	a0001c0001 a0031c0033 a0001c0001 a0031c0033	a0001c0001t0001 a0031c0033t0001 a0001c0001t0001 a0031c0033t0001	a0001c0001t0001g0039 a0031c0033t0001g0062 a0001c0001t0001g0039 a0031c0033t0001g0062	2	301	0.0066	588	c.-14 others(609): Show c.-144-10827_-144-10826insACTGAGCGTGAGAGTTGAGAGTCC CTGCTGTGTACTAGAACGACTGAGCGTGAGAGTTGAGAATCCCTGCTGTG TACTAGAACGTCTGAGCGCGAGAGTTGAGAGTCCCTGCTGTGTACTAGAA CGTCTGAGCGCGAGAGTTGAGAGTACCTGCTGTGTACTAGAACGTCTGAG CGTGAGAGTTGAGAGTCCCTGCTGTGTACTAGAACGTCTGAGCGCGAGAG TTGAGAGTCCCTGCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGAGAGT CCCTGCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGAGAGTCCCTGCTG TGTACTAGAACGTCTGAGCGTGAGAGTTGAGAGTCCCTGCTGTGTACTAG AACGTCTGAGCGCGAGAGTTGAGAGTCCCTGCTGTGTACTAGAACGTCTG AGCGCGAGAGTTGAGAGTACCTGCTGTGTACTAGAACGTCTGAGCGTGAG AGTTGAGAGTCCCTGCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGAGA GTCCCTGCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGAGAATCCCTGC TGTGTACTAGAACG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89429194	A A	ACGTTCTA others(581): Show ACGTTCTAGTACACAGCAGGGATTCTCAACTCTCACGCTCAGACGTTCTA GTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAG CAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGTACT CTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTC TCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTC AGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTC TAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACAC AGCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGA CTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGTACTCTCAAC TCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGC TCAGACGTTCTAGTACACAGCAGGGATTCTCAACTCTCACGCTCAGTCGT TCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01934.hp1 HG00438.hp2 HG01934.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0077 a0005c0005t0001g0030 a0001c0001t0001g0077 a0005c0005t0001g0030	2	301	0.0066	588	c.-14 others(609): Show c.-144-10827_-144-10826insACTGAGCGTGAGAGTTGAGAGTCC CTGCTGTGTACTAGAACGACTGAGCGTGAGAGTTGAGAATCCCTGCTGTG TACTAGAACGTCTGAGCGCGAGAGTTGAGAGTCCCTGCTGTGTACTAGAA CGTCTGAGCGCGAGAGTTGAGAGTACCTGCTGTGTACTAGAACGTCTGAG CGCGAGAGTTGAGAGTCCCTGCTGTGTACTAGAACGTCTGAGCGCGAGAG TTGAGAGTCCCTGCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGAGAGT CCCTGCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGAGAGTCCCTGCTG TGTACTAGAACGTCTGAGCGTGAGAGTTGAGAGTCCCTGCTGTGTACTAG AACGTCTGAGCGCGAGAGTTGAGAGTCCCTGCTGTGTACTAGAACGTCTG AGCGCGAGAGTTGAGAGTACCTGCTGTGTACTAGAACGTCTGAGCGTGAG AGTTGAGAGTCCCTGCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGAGA GTCCCTGCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGAGAATCCCTGC TGTGTACTAGAACG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANO2_chr12_5557655_5950259	5931519	C C	CAGACTAG others(581): Show CAGACTAGTAAGGAAGGAAGACTGGTAAGAAAGCGACTAATAAGGAAAGA AGGCAGACCAGTAAGGAAAGAAGGTAGACTAGTAAGGAAGGAAGACTGGT AAGAAAGTGACTAATAAGGAAAGAAGGCAGACGAGTGAGGAAAGAAGATA GACTAGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAG GTAGACGAGTGAGGAAAGAAGGTAGACTAGTAAGGAAGGAAGACTGGTAA GAAAGTGACTAATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAGATAGA CTAGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGC AGACGAGTGAGGAAAGAAGATAGACTAGTAAGGAAGGAAGACTGGTAAGA AAGTGACTAATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAGATAGACT AGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGCAG ACGAGTAAGGAAAGAAGACAGAAAAGGAAGGAAGACTGGTAAGAAAGTGA CTAATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAGGT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0151 a0003c0004t0002g0151	1	88	0.0114	588	c.23- others(603): Show c.23-8716_23-8715insACCTTCTTTCCTCACTCGTCTACCTTCTTT CCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTTTCTGTCTTCTTTC CTTACTCGTCTGCCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTCC TTCCTTACTAGTCTATCTTCTTTCCTCACTCGTCTACCTTCTTTCCTTAT TAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTATCTTCTTTCCT CACTCGTCTGCCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTT CCTTACTAGTCTATCTTCTTTCCTCACTCGTCTACCTTCTTTCCTTATTA GTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTACCTTCTTTCCTCA CTCGTCTACCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTTCC TTACTAGTCTATCTTCTTTCCTCACTCGTCTGCCTTCTTTCCTTATTAGT CACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTACCTTCTTTCCTTACT GGTCTGCCTTCTTTCCTTATTAGTCGCTTTCTTACCAGTCTTCCTTCCTT ACTAGTCT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
AP3D1_chr19_2095988_2156566	2128863	C C	CCCCACAG others(581): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCAC CCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCC GGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCC ACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGAC ACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTG CACCCCGTGGAGCTGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGG AGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGC CCCCGCCGCTCCGACACTGCACCCCGTGGAGCTGGCCCG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0003 a0001c0017t0003	a0001c0017t0003g0365 a0001c0017t0003g0365	1	397	0.0025	588	c.806 others(603): Show c.806+226_806+227insCGGGCCAGCTCCACGGGGTGCAGTGTCGGA GCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGC GGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCAGCTC CACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGC AGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGC TGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGG CCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACG GGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGT CGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGG GGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGG CTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGT GCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(581): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATATGTATAAATACGTACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATGTATAAATACATATACATATTTATACATATATGTATAAATAC ATATACATATTTATACATATATGTATAAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0031 a0001c0001t0086g0031	1	209	0.0048	588	c.39 others(597): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATATGTATAAATACGTACATATTTATACATATAT ATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTACAT ATTTATACATATATATGTATAAATACGTACATATTTATACATATATGTAT AAATACATATACATATTTATACATATATGTATAAATACATATACATATTT ATACATATATGTATAAATACATATACATATTTATACATATATGTATAAAT AC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCAGGG others(581): Show GGGCAGGGGGGCTGACACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGG CGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTAACCCCC CCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCC CCATCTCCCTCCCGGACAGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCAC GGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCG GCTGGCCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGG CTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp1 NA18906.hp1 HG02809.hp1 HG02886.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0176 a0001c0001t0002g0017 a0001c0001t0001g0176 a0001c0001t0002g0017	3	4	0.7500	588	c.-14 others(603): Show c.-14-841_-14-840insCAGGGGGGCTGACACCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCG GGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCAG GCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGG TGGGAGGGCTGACCCCCCCATCTCCCTCCCGGACAGGGTGGCTGGCCGGG CTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACCCCTCCACCTC CCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTC CCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATG2B_chr14_96274195_96368341	96340103	A A	AATATATG others(581): Show AATATATGATATATATGAATATATATATCATATATGATATATATGAATAT ATATATCATATATGATATATATGAATATATATATCATATATGATATATAT GAATATATATATCATATATGATATATATGAATATATATATCATATATGAT ATATATGAATATATATATCATATATGATATATATGAATATATATATCATA TATGATATATATGAATATATATATCATATATGATATATATGAATATATAT ATCATATATGATATATATGAATATATATATCATATATGATATATATGAAT ATATATATCATATATGATATATATGAATATATATATCATATATGATATAT ATGAATATATATATCATATATGATATATATGAATATATATATCATATATG ATATATATGAATATATATATCATATATGATATATATGAATATATATATCA TATATGATATATATGAATATATATATCATATATGATATATATGAATATAT ATATCATATATGATATATATGAATATATATATCATATATGATATATATGA ATATATATATCATATATGATATATATGAATATATATATC	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19043.hp1 HG02486.hp2 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0045 a0001c0003t0023 a0001c0003t0045	a0001c0003t0023g0239 a0001c0003t0045g0240 a0001c0003t0023g0239 a0001c0003t0045g0240	2	29	0.0690	588	c.924 others(605): Show c.924+1418_924+1419insGATATATATATTCATATATATCATATAT GATATATATATTCATATATATCATATATGATATATATATTCATATATATC ATATATGATATATATATTCATATATATCATATATGATATATATATTCATA TATATCATATATGATATATATATTCATATATATCATATATGATATATATA TTCATATATATCATATATGATATATATATTCATATATATCATATATGATA TATATATTCATATATATCATATATGATATATATATTCATATATATCATAT ATGATATATATATTCATATATATCATATATGATATATATATTCATATATA TCATATATGATATATATATTCATATATATCATATATGATATATATATTCA TATATATCATATATGATATATATATTCATATATATCATATATGATATATA TATTCATATATATCATATATGATATATATATTCATATATATCATATATGA TATATATATTCATATATATCATATATGATATATATATTCATATATATCAT ATATGATATATATATTCATATATATCATATATGATATATATATTCATATA TATCATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAG others(581): Show ATATATAGTTTATATATATATAGTTTATATATATATACTATATATATAGT TTATATATACTATATATATAGTTTATATATATATACTATATATAGTTTAT ATATATATACTATATATAGTATATATATACTATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATACTATATATAT AGTTTATATATATACTATATATATAGTTTATATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTATATATATATAAACTATATAT ATAGTTTATATATATATAAACTATATATATAGTTTATATATATATATACT ATATATATAGTATATATATATATAAACTATATATATAGTTTATATATATA TAAACTATATATATAGTTTATATATATATATACTATATATATAGTTTATA TATATATATATACTATATATATAGTTTATATATATATACTATATATATAG TTTATATATATATACTATATATATAGTTTATATATATATATACTATATAT ATAGTTTATATATATATATACTATATATATAGTTTATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	164	0.0061	588	c.331 others(607): Show c.3314-1170_3314-1169insATATAAACTATATATATAGTATATAT ATATATAAACTATATATATAGTATATATATATATAAACTATATATATAGT ATATATATATAAACTATATATATAGTATATATATATAAACTATATATATA GTATATATATATATATAAACTATATATATAGTATATATATATATAAACTA TATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATAT ATACTATATATATAGTATATATATATATAAACTATATATATAGTTTATAT ATATATAAACTATATATATAGTTTATATATATATACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATATAAACTATATATATAGT ATATATATAAACTATATATATAGTATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATAGTATATATATACTATAT ATAGTATATATATATAAACTATATATAGTATATATATATAAACTATATAT ATAGTATATATAAACTATATATATAGTATATATATATAAACTATATATAT ATAAACTATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(581): Show ATATATATAGTTTATATATATATAGTTTATATATATATACTATATATATA GTTTATATATACTATATATATAGTTTATATATATATACTATATATAGTTT ATATATATATACTATATATAGTATATATATACTATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTTTATATATATACTATATAT ATAGTTTATATATATACTATATATATAGTTTATATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTATATATATATAAACTATAT ATATAGTTTATATATATATAAACTATATATATAGTTTATATATATATATA CTATATATATAGTATATATATATATAAACTATATATATAGTTTATATATA TATAAACTATATATAGTTTATATATATATATACTATATATATAGTTTATA TATATATATATACTATATATATAGTTTATATATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATATATACTATAT ATATAGTTTATATATATATATACTATATATATAGTTTAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	164	0.0061	588	c.331 others(607): Show c.3314-1170_3314-1169insATAAACTATATATATAGTATATATAT ATATAAACTATATATATAGTATATATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATATATAAACTATATATATA GTATATATATATATATAAACTATATATATAGTATATATATATATAAACTA TATATAGTTTATATATATATAAACTATATATATAGTTTATATATATATAT ACTATATATATAGTATATATATATATAAACTATATATATAGTTTATATAT ATATAAACTATATATATAGTTTATATATATATACTATATATATAGTATAT ATATATAAACTATATATATAGTATATATATATAAACTATATATATAGTAT ATATATAAACTATATATATAGTATATATATAAACTATATATATAGTATAT ATATATAAACTATATATATAGTATATATATAGTATATATATACTATATAT AGTATATATATATAAACTATATATAGTATATATATATAAACTATATATAT AGTATATATAAACTATATATATAGTATATATATATAAACTATATATATAT AAACTATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(581): Show ATATATATAGTTTATATATATATAGTTTATATATATATACTATATATATA GTTTATATATACTATATATATAGTTTATATATATATACTATATATAGTTT ATATATATATACTATATATAGTTTATATATACTATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTTTATATATATACTATATAT ATAGTTTATATATATACTATATATATAGTTTATATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTATATATATATAAACTATAT ATATAGTTTATATATATATAAACTATATATATAGTTTATATATATATAAA CTATATATATAGTATATATATATATAAACTATATATATAGTTTATATATA TATAAACTATATATATAGTTTATATATATATATACTATATATATAGTTTA TATATATATATACTATATATATAGTTTATATATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATATACTATATAT ATAGTTTATATATATATATACTATATATATAGTTTATAT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19080.hp1 NA19066.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0221 a0001c0001t0009g0297 a0001c0001t0001g0221 a0001c0001t0009g0297	2	165	0.0121	588	c.331 others(607): Show c.3314-1170_3314-1169insATATAAACTATATATATAGTATATAT ATATATAAACTATATATATAGTATATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATATATAAACTATATATATA GTATATATATATATAAACTATATATATAGTATATATATATATAAACTATA TATATAGTTTATATATATATAAACTATATATATAGTTTATATATATATAT ACTATATATATAGTTTATATATATATAAACTATATATATAGTTTATATAT ATATAAACTATATATATAGTTTATATATATATACTATATATATAGTATAT ATATATAAACTATATATATAGTATATATATATAAACTATATATATAGTAT ATATATAAACTATATATATAGTATATATATAAACTATATATATAGTATAT ATATATAAACTATATATATAGTATATATATAGTATATATAAACTATATAT AGTATATATATATAAACTATATATAGTATATATATATAAACTATATATAT AGTATATATAAACTATATATATAGTATATATATATAAACTATATATATAT AAACTATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGAGG others(581): Show GAGGGAGGAGGAAGGGAGGAGGAGGAAGGGAGGGAGGAGGAGGGAGGAGG AAGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGAAGGGAGGGAGGAGGAGGGAGGAGGAGGAAGGGAGGGAG GAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGG AGGTGGAAGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGAGGAGGGAGGAGGAGGGAGGAGGAGGAAGGGAGGAGGAGGAGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAA GGGAGGGAGGTGGAAGGGAGGGAGGAAGGAAGGAGGGAGGAGGAAGGGAG GGAGGGAGGAGGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0025 a0025	a0025c0028 a0025c0028	a0025c0028t0001 a0025c0028t0001	a0025c0028t0001g0052 a0025c0028t0001g0052	1	109	0.0092	588	c.784 others(603): Show c.784-574_784-573insAGGAAGGGAGGAGGAGGAAGGGAGGGAGGA GGAGGGAGGAGGAAGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGAAGGGAGGGAGGAGGAGGGAGGAGGAG GAAGGGAGGGAGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGGAGGTGGAAGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGAGGAGGGAGGAGGAGGGAGGAGGAGGAAGGGAGG AGGAGGAGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGTGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAAGGAAGGAGGGA GGAGGAAGGGAGGGAGGGAGGAGGGGAGGGAGGGAGGAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(581): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGGAAGGGGGAGGAGGAAGAGGGGAAGGGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGG AGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAG CGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGAAGGGGGAGTGGGA GGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGG AGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	8	0.1250	588	c.-70 others(597): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAG GGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGAGGGGAAGGG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGG GAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAA GGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGA AGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAG GGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGA AG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BRD3OS_chr9_134020481_134036587	134025267	C C	CAGCCCCT others(581): Show CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAACAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCTCC TCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTGCCCCTCCTCCTCCTC CAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCC CCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGCCCCTCCTCCTCATCC AGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTC CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCC TCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTC CTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0002 a0001c0001t0033g0002	1	142	0.0070	588	c.-10 others(599): Show c.-1056_-1055insAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCA GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTG CCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCC CCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGC CCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAG CTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCA GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTC CTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCT CCAG	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		213		chr9	TogoVar
BRD3OS_chr9_134020481_134036587	134025267	C C	CAGCCCCT others(581): Show CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAACAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCTCC TCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTGCCCCTCCTCCTCCTC CAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCC CCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGCCCCTCCTCCTCATCC AGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTC CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCGGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCC TCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTC CTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01167.hp2 HG02258.hp2 others(12): Show HG01106.hp2 HG01167.hp2 HG02258.hp2 HG02622.hp1 HG02630.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0028 a0001c0001t0079 others(2): Show a0001c0001t0006 a0001c0001t0028 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081	a0001c0001t0006g0001 a0001c0001t0028g0001 a0001c0001t0079g0001 others(2): Show a0001c0001t0006g0001 a0001c0001t0028g0001 a0001c0001t0079g0001 a0001c0001t0080g0001 a0001c0001t0081g0007	15	156	0.0962	588	c.-10 others(599): Show c.-1056_-1055insAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCA GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTG CCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCC CCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGC CCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAG CTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCG GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTC CTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCT CCAG	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		213		chr9	TogoVar
C10orf90_chr10_126419997_126675693	126672434	G G	GCAGGACT others(581): Show GCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACC CCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCA GCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGG TCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAG GACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGA GACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTA CCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCAT CAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACT GGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACC AGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCC GAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGC TACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01167.hp1 HG01192.hp1 others(5): Show HG00621.hp2 HG01167.hp1 HG01192.hp1 HG01361.hp2 HG01517.hp1 HG02738.hp2 HG03669.hp2 HG03927.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0003 a0003c0002 others(1): Show a0001c0001 a0002c0003 a0003c0002 a0009c0023	a0001c0001t0001 a0002c0003t0004 a0003c0002t0001 others(1): Show a0001c0001t0001 a0002c0003t0004 a0003c0002t0001 a0009c0023t0001	a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0079 others(5): Show a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0002c0003t0004g0043 a0002c0003t0004g0081 a0003c0002t0001g0052 a0009c0023t0001g0117	8	106	0.0755	588	c.-19 others(599): Show c.-1955_-1954insGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCG GGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTG GTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCA GTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGA TGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGT AGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCT CGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCC TGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGAC CAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCT GATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGG GTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGT CTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGT CCTG	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding		1742		chr10	TogoVar
C10orf90_chr10_126419997_126675693	126672875	C C	CCCGAGAC others(581): Show CCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATC AGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTG GTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCA GGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCG AGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCT ACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCA TCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGAC TGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGAC CAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCC CGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAG CTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGT CATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03471.hp1 HG03516.hp1 HG02970.hp1 HG03471.hp1 HG03516.hp1	a0002 a0007 a0002 a0007	a0002c0004 a0007c0010 a0002c0004 a0007c0010	a0002c0004t0001 a0002c0004t0003 a0007c0010t0001 a0002c0004t0001 a0002c0004t0003 a0007c0010t0001	a0002c0004t0001g0021 a0002c0004t0003g0026 a0007c0010t0001g0019 a0002c0004t0001g0021 a0002c0004t0003g0026 a0007c0010t0001g0019	3	185	0.0162	588	c.-23 others(599): Show c.-2396_-2395insAGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGC TGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGG GGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGG TCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAG TCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGAT GACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTA GCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTC GGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCT GGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACC AGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTG ATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGG TAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTC TCGG	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding		2183		chr10	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(581): Show ATGATGGTGATGATGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGGG GTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTGG TGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGATG GGGGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGA TAGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATG ATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGAT GGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGA TGGTGGTGATGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATG GTGGTGATGGTGATGGTGGCAGTGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGATGGTGGTGATGGTGAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	86	0.0116	588	c.21 others(603): Show c.21-379_*21-378insATCACCATCACCACCATCACCACCATCACC ACCATCACCATCACCACCACCACCATCACCACCATCACTGCCACCATCAC CATCACCACCATCACCACCATCACCACCATCATCACCACCACCACCACCA TCACCACCATCATCACCATCACCACCACCACCACCACCACCATCACCATC ACCACCACCATCACCACCATCACCGTCACCACCATCACCACCACCACCAT CACCACCATCATCACCATCACCACCACCATCACCACCACCATCACCACCA TCATCACTATCACCACCATCACCACCATCATCACCACCACCACCACCACC ATCACCACCACCATCACCACCATCACCATCACCACCATCATCACCACCAC CGTCACCCCCATCATTACCATCACCACCACCACCACCACCACCATGACCA CCACCACCACCACTCTCACCATCATCATCACTGTCACCACCACCACCACC ACCACCACCATCACTACCATCGTCACCATCACCACTACCTCCATCTCCAC CACTACCACCCCCACCACCACTCTCACCACCATCACCATCACCCCATCAT CACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(581): Show ATGATGGTGATGATGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGGG GTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGAT GGTGGTGGTGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTGGT GGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGATGG GGGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGTG GTGGTGATGGTGGTGGGTGGTGGTGGTGATGTGGTGGTGATGGTGGTGAT AGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGA TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGATG GTGGTGGTGATGGTGATGGTGGTGGTGGTGTGGTGGTGATGGTGATGATG GTGGTGATGGTGGTGGTGGTGTGATGATGGTGGTGATGGTGGTGATGGTG GTGATGGTGATGGTGGCAGTGATGGTGGTGATGGTGGTGGTGGTGATGGT GATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGAT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	86	0.0116	588	c.21 others(603): Show c.21-379_*21-378insATCACCACCACCACCACCATCACCACCATC ACCACCATCACCATCACCACCACCACCATCACCACCATCACTGCCACCAT CACCATCACCACCATCACCACCATCACCACCATCATCACACCACCACCAC CATCACCACCATCATCACCATCACCACCACACCACCACCACCATCACCAT CACCACCACCATCACCACCATCACCGTCACCACCATCACCACCACCACCA TCACCACCATCATCACCATCACCACCACCATCACCACCACCATCACCACC ATCATCACTATCACCACCATCACCACCACATCACCACCACCACCCACCAC CATCACCACCACCATCACCACCATCACCATCACCACCATCATCACCACCA CCGTCACCCCCATCATTACCATCACCACCACCACCACCACCACCATGACC ACCACCACCACCACTCTCACCATCATCATCACTGTCACCACCACCACCAC ACCACCACCATCACTACCATCGTCACCATCACCACTACCTCCATCTCCAC CACTACCACCCCCACCACCACTCTCACCACCATCACCATCACCCCATCAT CACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C17orf67_chr17_56786913_56838920	56792825	G G	GTGATGGT others(581): Show GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGG TGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTG GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGT GATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGG TGATGGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGATGATGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGG TGGTGATGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGATG GTGGTGATGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTAGTGGT GGTGGTGATGGTGATGATGGTGGTGATGGTAGTGGTGATGGTGATGATGG TGGTGATGGTGATGATGGTGGTGATGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02615.hp2 HG02897.hp1 others(8): Show HG01109.hp2 HG02615.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03579.hp1 NA18522.hp2 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 a0001c0001t0001 a0001c0001t0009 a0001c0001t0014	a0001c0001t0001g0028 a0001c0001t0001g0111 a0001c0001t0001g0123 others(5): Show a0001c0001t0001g0028 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0184 a0001c0001t0009g0016 a0001c0001t0009g0171 a0001c0001t0009g0183 a0001c0001t0014g0044	11	65	0.1692	588	c.21 others(603): Show c.21-474_*21-473insTCACCATCACCACCATCACCACCATCATCA CCATCACCACCATCATCACCATCACCACTACCATCACCACCATCATCACC ATCACCACCACCACTACCATCACCACCATCATCACCATCACCACCACCAC CATCACCACCATCATCACCATCACCACCATCATCACCACCACCATCACCA CCATCACCACCACCATCACCACCATCATCACCATCACCACCACCATCACC ATCATCACCATCACCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCATCACCATCACCACCATCATCACCATCACCACCATCATCACCA CCACCATCACCACCATCACCACCACCATCACCACCATCATCACCATCACC ACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCAT CACCACCACCACCACCACCATCACCATCACCACCATCATCACCATCACCA CCATCATCACCATCACCACCACCATCACCACCATCACCACCACCATCACC ACCATCACCATCACCACCACCACCATCACCACCATCATCACCATCACCAC CACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(581): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACATAT CTGTATACATATGTATACATATCTGTATACATATGTGTATACAGATCTGT ATACATATGTATACAGATCTGTATACATATGTGTATACAGATCTGTATAC ATATGTGTATACAGATCTGTATACATATGTGTATACAGATCTGTATACAT ATGTATACATATCTGTATACATATGTATACATATCTGTATACATATGTAT ACATATCTGTATACATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	282	0.0035	588	c.366 others(605): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACATATGTATACAGA TATGTATACATATGTATACAGATCTGTATACACATATGTATACAGATCTG TATACACATATGTATACAGATCTGTATACACATATGTATACAGATCTGTA TACATATGTATACAGATCTGTATACACATATGTATACAGATATGTATACA TATGTATACAGATATGTATACAGATATGTATACACATATGTATACAGATA TGTATACACATATGTATACAGATATGTATACACATATGTATACAGATATG TATACACATATGTATACAGATATGTATACACATATGTATATACAGATATG TATACACATATGTATATACAGATATGTATACACATATGTATACAGATATG TATACATATGTATACAGATATGTATATACATATGTATACAGATATGTATA TACATATGTATACAGATATGTATACATATGTATACAGATATGTATATACA TATGTATACAGATATGTATATACAGATATGTATACAGATATGTATATACA GATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
CAMTA1_chr1_6780454_7774706	7114745	C C	CTGAGTCC others(581): Show CTGAGTCCGAAAACCTAAGAACCAGGAGAGCTGATGGTGGTGTTCCAGTG TGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGT GAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTG AGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGA GTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGAG TCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGAGT CCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGAGTC CGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGAGTCC GAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGAGTCCG AAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGAGTCCGA AAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGAGTCCGAA AACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	35	0.0286	588	c.302 others(607): Show c.302+23389_302+23390insAAGAACCAGGAGAGCTGATGGTGGTG TTCCAGTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGT TCCAGTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTT CCAGTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTC CAGTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCC AGTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCA GTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAG TGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGT GTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTG TGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGT GAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTG AGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGA GTCCGAAAACCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC198_chr14_57464300_57498857	57498823	A A	ATATATAT others(581): Show ATATATATATAATATGGTATATATATGTGTGTGTGTGTGTATATGGTATA TATATATAATATGGTATATATATGTGTGTGTGTGTATATATGGTATATAT ATATAATATGGTATATATATGTGTGTGTGTGTGTATATGGTATATATATA ATATGGTATATATATGTGTGTGTGTGTATATGGTATATATATAATATGGT ATATATATGTGTGTGTGTATATGGTATATATATATAATATGGTATATATA TGTGTGTGTATATGGTATATATATATAATATGGTATATATATGTGTGTGT GTGTATATATGGTATATATATAATATGGTATATATATGTGTGTGTGTGTG TATATATGGTATATATATAAAATATGGTATATATAGTGTGTGTGTGTGTA TATATGGTGTATATATATAATATGGTATATATATGTGTGTGTGTGTATAT ATGGTATATATATATAATGTGGTATATATATGTGTGTGTATATATGGTAT ATATATAATATGGTATATATGTGTGTGTGTGTGTATATATGGTATATATA TATAATATGGTATATATATGTGTGTGTGTGTATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02922.hp1 HG02723.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0189 a0001c0002t0004g0190	2	338	0.0059	588	c.-51 others(599): Show c.-5109_-5108insCCATATATACACACACACACATATATATACCATA TTATATATATATACCATATATACACACACACACACATATATACCATATTA TATATATACCATATATACACACACATATATATACCACATTATATATATAT ACCATATATACACACACACACATATATATACCATATTATATATATACACC ATATATACACACACACACACTATATATACCATATTTTATATATATACCAT ATATACACACACACACACATATATATACCATATTATATATATACCATATA TACACACACACACATATATATACCATATTATATATATATACCATATACAC ACACATATATATACCATATTATATATATATACCATATACACACACACATA TATATACCATATTATATATATACCATATACACACACACACATATATATAC CATATTATATATATACCATATACACACACACACACATATATATACCATAT TATATATATATACCATATATACACACACACACATATATATACCATATTAT ATATATATACCATATACACACACACACACATATATATACCATATTATATA TATA	CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding		4967		chr14	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(581): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCT GCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	56	0.0179	588	c.-29 others(599): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGA GGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCT GCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG GCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCA GGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(581): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC ACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCC CTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTT CCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACA CTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTC CCCTTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCT GCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0173 a0001c0001t0001g0110 a0001c0001t0001g0173	2	57	0.0351	588	c.-29 others(599): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AAGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CDH4_chr20_61247261_61945617	61353603	A A	ACTGCCTT others(581): Show ACTGCCTTCCTCCCCCTCCTCCCCATCTTTCTCCCCCTTCCCCCTCCCCC CCTCCTCTGTCTTCCCCCTACTCCTCCCCTTCTCCCTCCCCCTTCTCCCC CTCTTCCTCCCCTTCCCCCCCTCCTCTTCCCCCCCTCCTCCTCCTCCCCT TCCCCCTCCCATTACCCCTTCTCCTCCTCCTCTCTCCCCCTCCTCCTCTT CTTCCTCCTCTTCCCTCTCCTCCTCCTCCCCCTCCTCCCCCTCCCCCTGT TCCCCTTTTCCTCTGGAAGGCGATGAGAATACAGTATGATGATTCACCCT TCCCCTCCCCCTCCCCCTCCCTCCTCCTCCCCCCTACTCTTCCTCCCCCT CCTCCTCCCTCTCCCCTCCCTCTCCTTCCCCTCCCTCCTCCTCCTCCCCC TCCCCTCCTCCTCCTCTTCCCCCTCCTCCTCTTCTTCCTCCCTTCCCCCT CCTCCTCCTCCCTCTCCTCCTCCTCCCCCTGTTCCCCTTTTCCTCTGGAA GGTGATGAGAGTACAGTATGATGATTCACCCTCCCCCTCCCCCTCCTCCC TCCCCCTCCCCTCCTCCTCCTCTTCCCCCTCCACCTCTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0066 a0001c0003t0016g0066	1	4	0.2500	588	c.169 others(607): Show c.169+98668_169+98669insGCCTTCCTCCCCCTCCTCCCCATCTT TCTCCCCCTTCCCCCTCCCCCCCTCCTCTGTCTTCCCCCTACTCCTCCCC TTCTCCCTCCCCCTTCTCCCCCTCTTCCTCCCCTTCCCCCCCTCCTCTTC CCCCCCTCCTCCTCCTCCCCTTCCCCCTCCCATTACCCCTTCTCCTCCTC CTCTCTCCCCCTCCTCCTCTTCTTCCTCCTCTTCCCTCTCCTCCTCCTCC CCCTCCTCCCCCTCCCCCTGTTCCCCTTTTCCTCTGGAAGGCGATGAGAA TACAGTATGATGATTCACCCTTCCCCTCCCCCTCCCCCTCCCTCCTCCTC CCCCCTACTCTTCCTCCCCCTCCTCCTCCCTCTCCCCTCCCTCTCCTTCC CCTCCCTCCTCCTCCTCCCCCTCCCCTCCTCCTCCTCTTCCCCCTCCTCC TCTTCTTCCTCCCTTCCCCCTCCTCCTCCTCCCTCTCCTCCTCCTCCCCC TGTTCCCCTTTTCCTCTGGAAGGTGATGAGAGTACAGTATGATGATTCAC CCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCTCCTCTTCCCCC TCCACCTCTTCT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHMP1A_chr16_89639435_89662708	89647539	A A	AGTGGAGA others(581): Show AGTGGAGAAAAGGCCGCCGACGCGGAGACCCAGCGCGGGGTCAGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACC CAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTG GAGCAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01978.hp1 HG02486.hp1 HG00280.hp2 HG01978.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0076 a0001c0001t0003g0089 a0001c0001t0003g0073 a0001c0001t0003g0076 a0001c0001t0003g0089	3	357	0.0084	588	c.253 others(603): Show c.253-209_253-208insCGACCCCGCGCTGGGTCTCCACGTCGGCGG CCTTTGCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCT CCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCG CTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCG GCGGCCTTTTCTCCACTGACCCCGCGCTGGGTCTCCGCGTCGGCGGCCTT TTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647546	A A	AAAAGGCC others(581): Show AAAAGGCCGCCGACGCGGAGACCCAGCGCGGGGTCAGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACAC CCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCG GGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGT GGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGCAAA GGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	389	0.0026	588	c.253 others(603): Show c.253-216_253-215insGCTCCACCGACCCCGCGCTGGGTCTCCACG TCGGCGGCCTTTGCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGC CTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTC CACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTC CACGTCGGCGGCCTTTTCTCCACTGACCCCGCGCTGGGTCTCCGCGTCGG CGGCCTTT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647581	A A	AGTGGAGA others(581): Show AGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCGG CCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTG GGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACC CAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTG GAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	214	0.0047	588	c.253 others(603): Show c.253-251_253-250insCGACCCCGCGCTGGGTCTCCACGTCGGCGG CCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCT CCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTGTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCG CTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCT CCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTT TTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647581	A A	AGTGGAGA others(581): Show AGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCGG CCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTG GGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACC CAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTG GAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	214	0.0047	588	c.253 others(603): Show c.253-251_253-250insCGACCCCGCGCTGGGTCTCCACGTCGGCGG CCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCT CCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTGTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCG CTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCT CCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTT TTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647637	C C	CGCCGACG others(581): Show CGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCGGCCGACG TGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACC CAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTG GAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAG GCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGA CGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGA CCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGC GGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGG TGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAA AGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCC GACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	383	0.0026	588	c.253 others(603): Show c.253-307_253-306insCGCCTTTTCTCCACCGACCCCGCGCTGGGT CTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGT CGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCC TTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCC ACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCC CGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGG GTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTGTCCAC GTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGG CCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCT CCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCGCTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCT GGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTGGGTCCCC ACGTCGGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647805	C C	CGCCGACG others(581): Show CGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGGGACCCAGTGCGGGGTTGGTGGAGAAAAGGCCGCCGACGTGGAGACC CAGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGG GGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCGGTG GAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTTGGTGGAGAAAAG GCCGCCGACGTGGAGACCCAGTGCGGGGTCCGTGGAGAAAAGGCCGCCGA CGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGA CCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGC GGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGG TGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAA AGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCC GACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	376	0.0027	588	c.253 others(603): Show c.253-475_253-474insCGCCTTTTCTCCACCGACCCCGCACTGGGT CCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGT CGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCCGCC TTTTCTCCACCGACCCCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCC ACGGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCC CGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGG GTGTCCACGTCGGCGGCCTTTTCTCCACGGACCCCGCACTGGGTCTCCAC GTCGGCGGCCTTTTCTCCACCAACCCCGCACTGGGTCCCCACGTCGGCGG CCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCT CCACCGACCCCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACGGAC CCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCAACCCCGCACT GGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCC ACGTCGGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648195	G G	GACCCAGT others(581): Show GACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGT GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCA GTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACC CAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	352	0.0028	588	c.253 others(603): Show c.253-865_253-864insGTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACT GGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCA CTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTT TTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCAC CGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCG CACTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648404	G G	GGACCCAG others(581): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGTGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGGGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGG CGGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGAC CCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGA	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18747.hp1 NA20905.hp1 HG01943.hp1 NA18747.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0249 a0001c0001t0001g0277 a0001c0001t0001g0206 a0001c0001t0001g0249 a0001c0001t0001g0277	3	110	0.0273	588	c.252 others(603): Show c.252+946_252+947insTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCA CGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCCCGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCACTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGA CCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTT TCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACC GACCCCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGC GCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CLPTM1L_chr5_1312752_1350099	1333502	G G	GGGGGGGA others(581): Show GGGGGGGACTACTGTAGACACACCGGATGAGGATAAGGGGGGACTACTGT ATACACACCGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGA GGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGGAC TACTGTAGATACACGGGATGAGGATAAGGGGGGACTACTGTATACACACC GGATGAGGATAAGGGGGACTACTGTATACACACGGGATGAGGATGAGGGA CTATTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTAGACACAC CGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGG GGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTAGA TACACGGGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGA TAAGGGGGGACTACTGTAGATACACGGGATGAGGATAAGGGGGGACTACT GTATACACACCGGATGAGGATAAGGGGGACTACTGTATACACACGGGATG AGGATGAGGGACTATTGTATACACACCAGATGAGGATAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02976.hp2 others(3): Show HG02109.hp2 HG02280.hp1 HG02976.hp2 HG03130.hp2 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0179 a0001c0001t0001g0180 others(2): Show a0001c0001t0001g0033 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183	6	364	0.0165	588	c.891 others(603): Show c.891+786_891+787insTTATCCTCATCTGGTGTGTATACAATAGTC CCTCATCCTCATCCCGTGTGTATACAGTAGTCCCCCTTATCCTCATCCGG TGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTATCTACAGTAGT CCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCA TCCCGTGTATCTACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACA GTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTAT CCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTGT ATACAATAGTCCCTCATCCTCATCCCGTGTGTATACAGTAGTCCCCCTTA TCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTA TCTACAGTAGTCCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCC CCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCC GGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTCTACAGTA GTCCCCCC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CNTN6_chr3_1088024_1409217	1245282	C C	CATATATA others(581): Show CATATATATAATATATATAATATATATATAACATATATATAATATATATA TAATATATATAATATATATATAACATATATATAATATATATAACATATAT ATAATATATATAACATATATATATAATATATATATAACATATATATATAA TATATATATAACATATATATATAATATATATATAACATATATATAATATA TATATAACATATATATAATATATATAACATATATATAATATATATATAAC ATATATATATTATATATATAACATATATATAATATATATATAACATTTAT AATATATATATAACATATATATAATATATATATAACATATATATATTATA TATATAACATATATATATTATATATATATAACATATATATAATATATATA ACATATATATATAATATATATATAACATATATATATAATATATATAACAT ATATATATAATATATATATAACATATATATATAATATATATATAACATAT ATATTATATATATAACATATATATTATATATATAACATATATAATATATA TATAACATATATATAATATATATATAACATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	123	0.0081	588	c.358 others(607): Show c.358+17298_358+17299insATATATATAATATATATATAACATAT ATATAATATATATATAATATATATAATATATATATAACATATATATAATA TATATAACATATATATAATATATATAACATATATATATAATATATATATA ACATATATATATAATATATATATAACATATATATATAATATATATATAAC ATATATATAATATATATATAACATATATATAATATATATAACATATATAT AATATATATATAACATATATATATTATATATATAACATATATATAATATA TATATAACATTTATAATATATATATAACATATATATAATATATATATAAC ATATATATATTATATATATAACATATATATATTATATATATATAACATAT ATATAATATATATAACATATATATATAATATATATATAACATATATATAT AATATATATAACATATATATATAATATATATATAACATATATATATAATA TATATATAACATATATATTATATATATAACATATATATTATATATATAAC ATATATAATATATATATAACATATATATAATATATATATAACATATATAT ATAATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1245282	C C	CATATATA others(581): Show CATATATATAATATATATAATATATATATAACATATATATAATATATATA TAATATATATAATATATATATAACATATATATAATATATATAACATATAT ATAATATATATAACATATATATATAATATATATATAACATATATATATAA TATATATATAACATATATATATAATATATATATAACATATATATAATATA TATATAACATATATATAATATATATAACATATATATAATATATATATAAC ATATATATATTATATATATAACATATATATAATATATATATAACATTTAT AATATATATATAACATATATATAATATATATATAACATATATATATTATA TATATAACATATATATATTATATATATATAACATATATATAATATATATA ACATATATATATAATATATATATAACATATATATATAATATATATAACAT ATATATATAATATATATATAACATATATATATAATATATATATAACATAT ATATTATATATATAACATATATATTATATATATAACATATATATTATATA TATAACATATATATAATATATATATAACATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	123	0.0081	588	c.358 others(607): Show c.358+17298_358+17299insATATATATAATATATATATAACATAT ATATAATATATATATAATATATATAATATATATATAACATATATATAATA TATATAACATATATATAATATATATAACATATATATATAATATATATATA ACATATATATATAATATATATATAACATATATATATAATATATATATAAC ATATATATAATATATATATAACATATATATAATATATATAACATATATAT AATATATATATAACATATATATATTATATATATAACATATATATAATATA TATATAACATTTATAATATATATATAACATATATATAATATATATATAAC ATATATATATTATATATATAACATATATATATTATATATATATAACATAT ATATAATATATATAACATATATATATAATATATATATAACATATATATAT AATATATATAACATATATATATAATATATATATAACATATATATATAATA TATATATAACATATATATTATATATATAACATATATATTATATATATAAC ATATATATTATATATATAACATATATATAATATATATATAACATATATAT ATAATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPNE7_chr16_89570758_89602246	89597901	C C	CCATCCCC others(581): Show CCATCCCCCCACCCACCCATCCGTCCATCCATCCCCCCGCCCACCCATCC GTCCACCCATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCAT CCCCCCACCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCC ACCCATCCCCCCACCCACCCATCCGTCCACCCATCTGTCCACCCGTCCGT CCATCCATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCATCC CCCCACCCACCCATCTGTCCACCCATCCCCCCGCCCACCCATCCGTCCAC CCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCATCC ACCCATCCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCAT CCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCC CCCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCATCCAC CCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCC ACCCATCCCCCCACCCATCCGTCCACCCATCCATCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01517.hp2 HG01891.hp2 others(5): Show HG01081.hp2 HG01517.hp2 HG01891.hp2 HG02145.hp1 HG03209.hp2 HG03579.hp1 HG04204.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0002 a0001c0008t0002 a0001c0002t0002 a0001c0008t0002	a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 others(5): Show a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0045 a0001c0002t0002g0200 a0001c0002t0002g0257 a0001c0002t0002g0330 a0001c0008t0002g0019	8	340	0.0235	588	c.12 others(599): Show c.1280_*1281insCATCCCCCCACCCACCCATCCGTCCATCCATCCC CCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCGTCCA CCCATCCCCCCACCCACCCATCCCCCCACCCACCCATCCGTCCACCCATC TGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACCCA TCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCGCC CACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCG TCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCCCC CACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCA TCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCACC CACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTG TCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCATC CACT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		656		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597901	C C	CCATCCCC others(581): Show CCATCCCCCCACCCACCCATCCGTCCATCCATCCCCCCGCCCACCCATCC GTCCACCCATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCAT CCCCCCACCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCC ACCCATCCCCCCACCCACCCATCCGTCCACCCATCTGTCCACCCGTCCGT CCATCCATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCATCC CCCCACCCACCCATCTGTCCACCCATCCCCCCGCCCACCCATCCGTCCAC CCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCATCC ACCCATTCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCAT CCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCC CCCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCATCCAC CCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCC ACCCATCCCCCCACCCATCCGTCCACCCATCCATCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0235 a0001c0002t0002g0235	1	333	0.0030	588	c.12 others(599): Show c.1280_*1281insCATCCCCCCACCCACCCATCCGTCCATCCATCCC CCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCGTCCA CCCATCCCCCCACCCACCCATCCCCCCACCCACCCATCCGTCCACCCATC TGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACCCA TCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCGCC CACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCG TCCACCCATCCATCCACCCATTCCCCCACCCACCCATCCATCCATCCCCC CACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCA TCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCACC CACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTG TCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCATC CACT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		656		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597901	C C	CCATCCTC others(581): Show CCATCCTCCCACCCACCCATCCGTCCATCCATCCCCCCGCCCACCCATCC GTCCACCCATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCAT CCCCCCACCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCC ACCCATCCCCCCACCCACCCATCCGTCCACCCATCTGTCCACCCGTCCGT CCATCCATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCATCC CCCCACCCACCCATCTGTCCACCCATCCCCCCGCCCACCCATCCGTCCAC CCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCATCC ACCCATCCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCAT CCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCC CCCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCATCCAC CCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCC ACCCATCCCCCCACCCATCCGTCCACCCATCCATCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0270 a0001c0002t0002g0270	1	333	0.0030	588	c.12 others(599): Show c.1280_*1281insCATCCTCCCACCCACCCATCCGTCCATCCATCCC CCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCGTCCA CCCATCCCCCCACCCACCCATCCCCCCACCCACCCATCCGTCCACCCATC TGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACCCA TCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCGCC CACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCG TCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCCCC CACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCA TCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCACC CACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTG TCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCATC CACT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		656		chr16	TogoVar
CRLF2_chrX_1185490_1217649	1198339	C C	CCCAGGAA others(581): Show CCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACAC CCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCA GGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTC CCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGAC ACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTAG AAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCC TCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGG ACACCCTCCCTCCCACCTCCTAGGAAGGCAGGACACCCTCCCTCCCACCT CCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACAGCCTC CCTCCCACCTCCCGGGAAGATAGGACACCCTCCCTCCCACCTCCCGGGAA GACAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTC CCACCTCGAAGGCAGGACAGCCTCCCTCCCACCTCCCGG	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA18965.hp1 HG03492.hp2 NA18965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0001 a0001c0001t0001 a0002c0006t0001	a0001c0001t0001g0045 a0002c0006t0001g0039 a0001c0001t0001g0045 a0002c0006t0001g0039	2	86	0.0233	588	c.646 others(603): Show c.646+222_646+223insCCGGGAGGTGGGAGGGAGGCTGTCCTGCCT TCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGG TGTCCTGTCTTCCCGGGAGGTGGGAGGGAGGGTGTCCTATCTTCCCGGGA GGTGGGAGGGAGGCTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGC CTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTAGGAGGTGGGAG GGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTC GAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTG TCCTGCCTTCTAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGG AGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCT GGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTC CTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTG GGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGC CTTCCTGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar

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