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
SMYD3_chr1_245744347_246512279	245798397	C C	CACACACC others(422): Show CACACACCACACATACACACACACACATACACACACAAACACACACACAT ACACACCACACACACATACCCACACACACACATACATACACACCACACAC CCCCACACACATACACACACACAAAAATACACATACACACAAACACACAA ATACACACATACACACAAAAATACACATACACACAAACACACAAATACAC ACACAGAAATACACATACATACACACACACACACCCACATACCCACACAC ATACCCACACACCCACAAACACACATACACACACACACACAAATACACAC ACATACATAACACACCCACACACATACACACACACAATACACATACACAC AAACACACACATACACATACAAAAATACACACATACACACACACAAATAC ACACATACACACACATACCCACACACACAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0141 a0002c0003t0001g0141	1	150	0.0067	429	c.107 others(450): Show c.1077-34249_1077-34248insATGTGTGTGTGGGTATGTGTGTGT ATGTGTGTATTTGTGTGTGTGTATGTGTGTATTTTTGTATGTGTATGTGT GTGTTTGTGTGTATGTGTATTGTGTGTGTGTATGTGTGTGGGTGTGTTAT GTATGTGTGTGTATTTGTGTGTGTGTGTGTATGTGTGTTTGTGGGTGTGT GGGTATGTGTGTGGGTATGTGGGTGTGTGTGTGTGTATGTATGTGTATTT CTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGTGTATGT GTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGTGTGTGTATGTGT GTGGGGGTGTGTGGTGTGTATGTATGTGTGTGTGTGGGTATGTGTGTGTG GTGTGTATGTGTGTGTGTTTGTGTGTGTATGTGTGTGTGTGTATGTGTGG TGTGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325242	G G	GGGGGGGC others(422): Show GGGGGGGCGGGAAGGAGGGAGGGGGGGGCGGGGGGCCGGGAAGGAGGGAG AAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAG GAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGA GGGAAGGAGGGAGAAGGAGTCGGGGGGCCGGGAAGGAGGGAGAAGGAGTC GGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGA AGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGCGGGGGCGGGAAG GAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGG CGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTC GGGGGGCGGGAAGGAGGGAGAAGGAGTCGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0134 a0002c0007t0004g0134	1	150	0.0067	429	c.531 others(446): Show c.531+1958_531+1959insGCGACTCCTTCTCCCTCCTTCCCGCCCC CCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCGCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTC CTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCC CCGACTCCTTCTCCCTCCTTCCCGGCCCCCCGACTCCTTCTCCCTCCTTC CCTCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCC TTCTCCCTCCTTCCCGGCCCCCCGCCCCCCCCTCCCTCCTTCCCGCCCCC C	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325242	G G	GGGGGGGC others(422): Show GGGGGGGCGGGAAGGAGGGAGGGGGGGGCGGGGGGCCGGGAAGGAGGGAG AAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAG GAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGCCGGGAAGGAGGGAGAAGGAGTC GGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGA AGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGCGGGGGCGGGAAG GAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGG CGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTC GGGGGGCGGGAAGGAGGGAGAAGGAGTCGC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02451.hp2 HG02717.hp1 others(1): Show HG00733.hp2 HG02451.hp2 HG02717.hp1 HG03130.hp1	a0002 a0002	a0002c0007 a0002c0008 a0002c0017 a0002c0007 a0002c0008 a0002c0017	a0002c0007t0001 a0002c0008t0002 a0002c0017t0001 a0002c0007t0001 a0002c0008t0002 a0002c0017t0001	a0002c0007t0001g0124 a0002c0007t0001g0132 a0002c0008t0002g0125 others(1): Show a0002c0007t0001g0124 a0002c0007t0001g0132 a0002c0008t0002g0125 a0002c0017t0001g0122	4	150	0.0267	429	c.531 others(446): Show c.531+1958_531+1959insGCGACTCCTTCTCCCTCCTTCCCGCCCC CCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCGCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTC CTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCC CCGACTCCTTCTCCCTCCTTCCCGGCCCCCCGACTCCTTCTCCCTCCTTC CCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCC TTCTCCCTCCTTCCCGGCCCCCCGCCCCCCCCTCCCTCCTTCCCGCCCCC C	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(422): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTC CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02615.hp1 HG01109.hp2 HG01891.hp2 HG02615.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0005 a0003c0007 a0007c0016 a0002c0005 a0003c0007 a0007c0016	a0002c0005t0001 a0003c0007t0001 a0007c0016t0001 a0002c0005t0001 a0003c0007t0001 a0007c0016t0001	a0002c0005t0001g0101 a0003c0007t0001g0104 a0007c0016t0001g0005 a0002c0005t0001g0101 a0003c0007t0001g0104 a0007c0016t0001g0005	3	190	0.0158	429	c.72+ others(446): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGAC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT T	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(422): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02922.hp1 HG04115.hp2 others(5): Show HG02165.hp1 HG02922.hp1 HG04115.hp2 HG04184.hp2 NA18961.hp2 NA18969.hp2 NA18970.hp2 NA18984.hp2	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0020	a0001c0001 a0001c0002 a0004c0004 others(2): Show a0001c0001 a0001c0002 a0004c0004 a0008c0031 a0020c0021	a0001c0001t0001 a0001c0002t0001 a0004c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0004c0004t0001 a0008c0031t0001 a0020c0021t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0002t0001g0112 others(5): Show a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0002t0001g0112 a0001c0002t0001g0126 a0001c0002t0001g0137 a0004c0004t0001g0134 a0008c0031t0001g0110 a0020c0021t0001g0111	8	190	0.0421	429	c.72+ others(446): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGAC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCC TCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT T	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(422): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0128 a0008c0011t0001g0128	1	190	0.0053	429	c.72+ others(446): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGAC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCC TCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCC AGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT T	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(422): Show CCCTCCCTCCCTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTTTCC CTCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTCCCTCCC TCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT CCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCC TCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCC TCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCC TCCCTTCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0125 a0001c0001t0013g0125	1	168	0.0060	429	c.548 others(448): Show c.548+52889_548+52890insTCCTCTTTTCCCTCTCTCCCTCCCTT CCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCC TCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCC TCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCC TCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTC CCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPIRE2_chr16_89823475_89876319	89852377	C C	CCCAGATC others(422): Show CCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCAACCCGCCAGATCCCC TGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTT CCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCC CCACCCACCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCACCAG ATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCC CATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCATC CTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACC CCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCC CTGGCCCATCTTCCATCCTCCCCCAACCCG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	356	0.0028	429	c.645 others(446): Show c.645+1726_645+1727insCTGGCCCATCTTCCATCCTCCCCCAACC CGCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCC ATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCT TCCATCCTCCCCCCACCCACCAGATCCCCTGGCCCATCTTCCATCCTCCC CCCACCCACCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCA GATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGC CCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCAT CCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCAC CCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCAACCCGCCAGATCC C	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(422): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGG GGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGG GAGGGGGGGGGAGGGGAGGGGAGGGGGAGGGGGGGGAGGGGAGGGGAGGG GAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGGAGG GGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0197 a0002c0002t0002g0197	1	260	0.0039	429	c.138 others(448): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCC CCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCTCCCCCCC CCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCT CCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTC CCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(422): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGA GGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGA GGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGA GGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGG GGAGAGAGGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0158 a0001c0002t0005g0158	1	276	0.0036	429	c.-18 others(448): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCC CCTCCCTCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCC CCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCC CTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TBCD_chr17_82747065_82950914	82785598	G G	GTGTGACT others(422): Show GTGTGACTGGGACCACTGGATCCCGCCCATCGCAGCGGGAGGGGGGTCCA TGCTGTGTGACTGGGACCACTGGATCCCGCCCATCGCAGCGGGAGGGGGG TCCGTGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGGGAGG GGGGTCCGTGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGG GAGGGGGGTCCGTGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCA GCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGATCCCACCCAT CGCAGCGGGAGGGGGGTCCGTGCTGTGTGACTGGGACCACTGGATCCCAC CCATCGCAGCGGGAGAGGGGTCCATGCTGTGTGACTGGGACCACTGGACC CGACCCATCGCAGCGGGAGGGGGTCCGTGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0008 a0002c0012t0008	a0002c0012t0008g0170 a0002c0012t0008g0170	1	318	0.0031	429	c.771 others(446): Show c.771+3896_771+3897insTCCCGCCCATCGCAGCGGGAGGGGGGTC CATGCTGTGTGACTGGGACCACTGGATCCCGCCCATCGCAGCGGGAGGGG GGTCCGTGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGGGA GGGGGGTCCGTGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGC GGGAGGGGGGTCCGTGCTGTGTGACTGGGACCACTGGACCCGACCCATCG CAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGATCCCACCC ATCGCAGCGGGAGGGGGGTCCGTGCTGTGTGACTGGGACCACTGGATCCC ACCCATCGCAGCGGGAGAGGGGTCCATGCTGTGTGACTGGGACCACTGGA CCCGACCCATCGCAGCGGGAGGGGGTCCGTGCTGTGACTGGGACCACTGG A	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82785598	G G	GTGTGACT others(422): Show GTGTGACTGGGACCACTGGATCCCGCCCATCGCAGCGGGAGGGGGGTCCA TGCTGTGTGACTGGGACCACTGGATCCCGCCCATCGCAGCGGGAGGGGGG TCCGTGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGGGAGG GGGGTCCGTGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGG GAGGGGGGTCCGTGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCA GCGGGAGGGGGGTCCGTGCTGTGTGACTGGGACCACTGGATCCCACCCAT CGCAGCGGGAGGGGGGTCCGTGCTGTGTGACTGGGACCACTGGATCCCAC CCATCGCAGCGGGAGAGGGGTCCATGCTGTGTGACTGGGACCACTGGACC CGACCCATCGCAGCGGGAGGGGGTCCGTGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp2 HG02896.hp2 others(3): Show HG02615.hp2 HG02647.hp2 HG02896.hp2 HG02922.hp2 HG03453.hp1 HG03486.hp2	a0002 a0002	a0002c0011 a0002c0012 a0002c0011 a0002c0012	a0002c0011t0012 a0002c0012t0008 a0002c0011t0012 a0002c0012t0008	a0002c0011t0012g0161 a0002c0011t0012g0163 a0002c0011t0012g0164 others(3): Show a0002c0011t0012g0161 a0002c0011t0012g0163 a0002c0011t0012g0164 a0002c0011t0012g0165 a0002c0012t0008g0160 a0002c0012t0008g0162	6	318	0.0189	429	c.771 others(446): Show c.771+3896_771+3897insTCCCGCCCATCGCAGCGGGAGGGGGGTC CATGCTGTGTGACTGGGACCACTGGATCCCGCCCATCGCAGCGGGAGGGG GGTCCGTGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGGGA GGGGGGTCCGTGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGC GGGAGGGGGGTCCGTGCTGTGTGACTGGGACCACTGGACCCGACCCATCG CAGCGGGAGGGGGGTCCGTGCTGTGTGACTGGGACCACTGGATCCCACCC ATCGCAGCGGGAGGGGGGTCCGTGCTGTGTGACTGGGACCACTGGATCCC ACCCATCGCAGCGGGAGAGGGGTCCATGCTGTGTGACTGGGACCACTGGA CCCGACCCATCGCAGCGGGAGGGGGTCCGTGCTGTGACTGGGACCACTGG A	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TERT_chr5_1248167_1300068	1273645	A A	AACCGCCA others(422): Show AACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCAT CCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACG ACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCACACATCAGACCCCACG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03139.hp1 HG02965.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	392	0.0051	429	c.228 others(448): Show c.2287-1366_2287-1365insCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTG GGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273746	C C	CACGACCG others(422): Show CACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCC ACAGTCACCACATCAGACCCCACGACCACCATCCACAGTCACCACACATC AGACCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA CGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATC AGACCCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCACAACC GCCATCCACAGTCACCACACATCAGACCCT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	392	0.0026	429	c.228 others(448): Show c.2287-1467_2287-1466insAGGGTCTGATGTGTGGTGACTGTGGA TGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGG GTCTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM178B_chr7_141069064_141485380	141337156	C C	CACCACCA others(422): Show CACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCATCATCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCATCACCACCACGACCACCACCAGCATCACCAC CATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCAGCATCACCACCATCACC ACCACCACCACCACCATCACCACCAGCATCACCACCATCACCACCACCAT CACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCACGACCACCACCAGCATCACCACCATC ACCACCATCACCACCACCACCACCATCACT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0053 a0001c0002t0007g0053	1	80	0.0125	429	c.497 others(450): Show c.497-100451_497-100450insCCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCATCATCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCAC CACGACCACCACCAGCATCACCACCATCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCAGCATCACCACCATCACCACCACCACCACCACCATCACCACCAG CATCACCACCATCACCACCACCATCACCACCACCATCACCACCACCACCA TCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACG ACCACCACCAGCATCACCACCATCACCACCATCACCACCACCACCACCAT CACTA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TNFRSF6B_chr20_63691652_63703684	63693732	T T	TCCACCTC others(422): Show TCCACCTCCACCACCTCCACCACCACCACCTCCACCACCTCCACCACCTC CACCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCACCACCA CCTCCACCTCCACCACCACCACCTCCACCACCACCACCTCCACCTCCACC TCCACCTCCACCTCCACCACCACCACCTCCACCACCACCACCTCCACCAC CACCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCTCCA CCACCACCACCTCCACCACCTCCACCTCCACCTCCACCACCACCACCTCC ACCACCACCTCCACCACCACCACCTCCACCTCCACCTCCACCACCACCAC CTCCACCACCACCTCCTCCACCTCCACCACCTCCACCACCACCTCCACCA CCACCTCCACCACCACCTCCTCCACCTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	33	0.0303	429	c.-30 others(440): Show c.-3036_-3035insCCACCTCCACCACCTCCACCACCACCACCTCCAC CACCTCCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCACCA CCACCTCCACCACCACCTCCACCTCCACCACCACCACCTCCACCACCACC ACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCACCTCCACCAC CACCACCTCCACCACCACCACCTCCACCACCACCTCCACCACCACCACCT CCACCTCCACCTCCACCACCACCACCTCCACCACCTCCACCTCCACCTCC ACCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCAC CTCCACCACCACCACCTCCACCACCACCTCCTCCACCTCCACCACCTCCA CCACCACCTCCACCACCACCTCCACCACCACCTCCTCCACCTCCA	TNFRSF6B	ENSG00000243509.6	transcript	ENST00000369996.3	protein_coding		2919		chr20	TogoVar
TOLLIP_chr11_1269371_1314632	1287619	G G	GCCTCCCC others(422): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCACCCGCCGCAGCCTCCCCGCCGCACCCTCCC CGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCACCGCCGCAC CCTCCCCGCCGCAGCCTCCCTGCCGCACCCTCCCCGCCGCAGCCTCCCCG CCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCCGCCGCAGCC TCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCC GCAGCCTCCCCGCCGCACCCTCTCCGCCGCAGCCTCCCCGCCGCACCCTC TCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGC ACCCTCCCCGCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0311 a0001c0001t0004g0311	1	348	0.0029	429	c.519 others(446): Show c.519+1004_519+1005insGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GAGAGGGTGCGGCGGGGAGGCTGCGGCGGAGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGC GGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCAGGGAGGCTGCGGCGGGGA GGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGG CGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGTGCGGCGGGGAGGCTGCG GCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAG G	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TPSD1_chr16_1251069_1264008	1258684	C C	CCCCCTCC others(422): Show CCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCACTGCTCCAT CCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGAGCCCCTC ATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCATCCTGGGC CCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTTT CTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGTCCCTC CTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTCCACCCTCAGC CCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTC TTGAGTCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTGAGTCCCTCCC CCACCCTGAGCCCCCTCCCCTTTCTTGAGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0001 a0001c0001t0054g0001	1	270	0.0037	429	c.31 others(438): Show c.311_*312insCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCC ACTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCT TGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCC CATCCTGGGCCCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCCC CCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCT TGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTC CACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCC TTCCCCTTTCTTGAGTCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTG AGTCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTGAGTCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TRAPPC12_chr2_3374694_3484565	3437768	T T	TCACCCCA others(422): Show TCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACC CCTGGATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCACCCCTGG ATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAAT ACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCC AATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCA CCCCTGAATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCC TGGATTAATCCCCCCATCACCCCTGGATTAATGCCCCATCACCCCTGGAT TAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAAT ACCCCATCACCCCTGAATTAATCCCCCCAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0294 a0002c0009t0001g0294	1	344	0.0029	429	c.141 others(448): Show c.1418-6005_1418-6004insAGGATTAATACCCCATCACCCCTGGA TTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAAT CCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCC ATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCAC CCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCA GGATTAATACCCCATCACCCCTGAATTAATCCCCCCACCACCCCTGGATT AATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATG CCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCC ATCACCCCTGGATTAATACCCCATCACCCCTGAATTAATCCCCCCACCAC CCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAPPC9_chr8_139722725_140462744	140157002	T T	TTTCCATT others(422): Show TTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTCCATTC AAAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTTCCATTCAAAAGCCT CCCTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCC ATTCAAAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTCCATTCAAAAGC CTCCCTTTCCATTCAAAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTTC CATTCAAAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTCCATTCAAAA GCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCT TTTCCATTCAAAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTCCATTCA AAAGCCTCCCTTTCCATTCAAAAGCCTCCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0087 a0001c0004t0004g0087	1	98	0.0102	429	c.255 others(450): Show c.2556+64456_2556+64457insGGGAGGCTTTTGAATGGAAAGGGA GGCTTTTGAATGGAAAGGGAGGCTTTTGAATGGAAAGGGAGGCTTTTGAA TGGAAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGGAAAAG GGAGGCTTTTGAATGGAAAGGGAGGCTTCTGAATGGAAAAGGGAGGCTTT TGAATGGAAAAGGGAGGCTTTTGAATGGAAAGGGAGGCTTTTGAATGGAA AGGGAGGCTTTTGAATGGAAAGGGAGGCTTTTGAATGGAAAGGGAGGCTT TTGAATGGAAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGG AAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTCTGAATGGAAAAGGGAG GCTTTTGAATGGAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAA TGGAA	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRIM2_chr4_153199443_153344317	153222058	A A	AAGGAAGG others(422): Show AAGGAAGGAAAGAAGGAAGGAAAGAGCAAGGAAGGAAGGAAAGAGCGAGG AAGGGAGGGAGGAAGGAAGGAGGGAGGGAGCGAGGGAGGAAGGAAGGAAG GAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGG AGGAAGGAAGGAGGGAGGAAGGAAGGGAGGGAGGGAGAGGGAGAAAAGGA ACGAAAGAGTGAGGAAGGAAGGAAAGAGGGAGGAAGGGAGGAAGGAAGGA AGGGAGAGAGGAAGGAAGGAAGGAAAGAGCGAGGAAGGGAGGGAGGAAGG AAGGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAA GGGAAGGAGGAAGGAAGGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGGG AGAAAAGAAGAGCGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02922.hp1 others(2): Show HG01243.hp2 HG01884.hp2 HG02922.hp1 HG03453.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0006 a0001c0002t0003 a0001c0003t0001 a0001c0001t0006 a0001c0002t0003 a0001c0003t0001	a0001c0001t0006g0146 a0001c0001t0006g0147 a0001c0001t0006g0149 others(2): Show a0001c0001t0006g0146 a0001c0001t0006g0147 a0001c0001t0006g0149 a0001c0002t0003g0148 a0001c0003t0001g0003	5	268	0.0187	429	c.30+ others(446): Show c.30+17507_30+17508insAGAAGGAAGGAAAGAGCAAGGAAGGAAG GAAAGAGCGAGGAAGGGAGGGAGGAAGGAAGGAGGGAGGGAGCGAGGGAG GAAGGAAGGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGA AGGAAGGGAAGGAGGAAGGAAGGAGGGAGGAAGGAAGGGAGGGAGGGAGA GGGAGAAAAGGAACGAAAGAGTGAGGAAGGAAGGAAAGAGGGAGGAAGGG AGGAAGGAAGGAAGGGAGAGAGGAAGGAAGGAAGGAAAGAGCGAGGAAGG GAGGGAGGAAGGAAGGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGA GGGAGGAAGGAAGGGAAGGAGGAAGGAAGGAGGGAGGGAGCGAGAGAGGA AGGAAGGGAGGGAGAAAAGAAGAGCGAGGGAGGGAGGGAGGGAGGAAGGA A	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TRMO_chr9_97899489_97927500	97913251	T T	TAATCATT others(422): Show TAATCATTGTATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTAGGTTTTTA ATGTAATTTATTTCTGTTCAGAAGGGTACATTTTCTATTGCCGATGAACT CTATTTGGCTGACAGCAAAAATTAGATACTGAAATAGAGTAATTTTGCAA CCACATCCTTTAGCAGTTTTCATGCCTCCTCATTTTTGCTGCCAACTTAT TAAAATAATCATCTAAACTATACAAGTTTTTTACATTTTCTCTTCACCTA CACACATTCTTTTTTTTTTTTTCTTTCTTTTTTTTTTTTTTTATTATACT CTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTAT ACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTA GGTATATCTCCCAATACTATCCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp2 HG02559.hp1 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0085 a0002c0002t0001g0076 a0002c0002t0001g0085	2	374	0.0054	429	c.409 others(444): Show c.409+149_409+150insGGGGGGAGGGATAGTATTGGGAGATATACC TAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGT ATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAG AGTATAATAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAAAGAATGTGTG TAGGTGAAGAGAAAATGTAAAAAACTTGTATAGTTTAGATGATTATTTTA ATAAGTTGGCAGCAAAAATGAGGAGGCATGAAAACTGCTAAAGGATGTGG TTGCAAAATTACTCTATTTCAGTATCTAATTTTTGCTGTCAGCCAAATAG AGTTCATCGGCAATAGAAAATGTACCCTTCTGAACAGAAATAAATTACAT TAAAAACCTAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATACAATGATT	TRMO	ENSG00000136932.15	transcript	ENST00000375119.8	protein_coding	3/4			chr9	TogoVar
TULP4_chr6_158307465_158516828	158449517	T T	TGAAAAAT others(422): Show TGAAAAATGCTGTGCTATTACTAAGAAAAATTCCTCTGCCTTGGGATCCT GTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTG TGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTT AAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCT AATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTC TGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTC CCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACAC CCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0018 a0018	a0018c0043 a0018c0043	a0018c0043t0003 a0018c0043t0003	a0018c0043t0003g0072 a0018c0043t0003g0072	1	268	0.0037	429	c.724 others(444): Show c.724+360_724+361insCTAAGAAAAATTCCTCTGCCTTGGGATCCT GTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTG TGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTT AAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCT AATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTC TGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTC CCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACAC CCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAATGCTGTGCTATTA	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC5D_chr8_35230475_35801540	35509498	T T	TCTCCTCT others(422): Show TCTCCTCTCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCTTCCCCT CTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCT CCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCC TCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC TCCCCTCCCCTGTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCTCCT TCCCTCCCCTCCCCTCCCATTCCTTCCCCTCCTATTCCTTCCCCTCCCTT TCCCTCCCATTCCTTCCCCTCCCTTTCTCTCCCATTCCTTCCCCTCCCTT TCTCCTACCCCTCCCCTGTCTTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0010	1	64	0.0156	429	c.104 others(448): Show c.104-39786_104-39785insCTCTCCCCTCCCTTCCCCTCTCCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCT CCCCTCCCCTCTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTC CCCTCTCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCTCTCCCCTCCCCTGTCCCCTCCCCTCCCCTCTCCCCT CCCCTCTCCTCTCCTTCCCTCCCCTCCCCTCCCATTCCTTCCCCTCCTAT TCCTTCCCCTCCCTTTCCCTCCCATTCCTTCCCCTCCCTTTCTCTCCCAT TCCTTCCCCTCCCTTTCTCCTACCCCTCCCCTGTCTTCTCCTCCCCTCCT CTC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC80_chr2_209766832_210004296	209903554	T T	TATATATA others(422): Show TATATATACTATATATATTATATATAGTATATATGTAATATATATACTAT ATATATTATATATAGTATATATGTAATATATATACTATATATATTATATA TAGTATATATGTAATATATATACTATATATATTATATATAGTATATATGT AATATATATACTATATATATTATATATAGTATATATGTAATATATATACT ATATATATTATATATAGTATATATGTAATATATATACTATATATAGTATA TATGTAATATATATACTATATATAGTATATATGTAATATATATATACTAT ATATAGTATATATGTAATATATATACTATATATAGTATATATGTAATATA TACTATATATAGTATATATGTAATATATATACTATATATAGTATATATGT AATATATATACTATATATAGTATATATGTA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0015 a0015	a0015c0039 a0015c0039	a0015c0039t0003 a0015c0039t0003	a0015c0039t0003g0153 a0015c0039t0003g0153	1	188	0.0053	429	c.458 others(448): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATATTATATATAGTATATATGTAATATATATA CTATATATATTATATATAGTATATATGTAATATATATACTATATATATTA TATATAGTATATATGTAATATATATACTATATATATTATATATAGTATAT ATGTAATATATATACTATATATATTATATATAGTATATATGTAATATATA TACTATATATAGTATATATGTAATATATATACTATATATAGTATATATGT AATATATATATACTATATATAGTATATATGTAATATATATACTATATATA GTATATATGTAATATATACTATATATAGTATATATGTAATATATATACTA TATATAGTATATATGTAATATATATACTATATATAGTATATATGTAATAT ATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX2_chrX_8164944_8176267	8169273	C C	CCCTCCCT others(422): Show CCCTCCCTCCCCACACACCACCTCTCCTCCCTCCCTCCCACACACCACCT CTTCCTCCCTCCCTCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCC CACACACCTCTTCCTCCCTCCCCTCCCTCCCCCACACACCACCTCTTCCT CCCTCCCTCCTCACACACCACCGCTTCCTCCCTCCCTCCCCACACACCAC CTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCTCCCTCCCTCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACA CACCACCTCTCCTCCCTCCCTCCCCACACACCACCTCTTCCCTCCCTCCC TCCCCACACACCACCTCTTCCTCCTCCCTCCCTCCCCACACACCACCTCT TCCTCCCTCCCTCCCCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0020 a0020	a0020c0016 a0020c0016	a0020c0016t0008 a0020c0016t0008	a0020c0016t0008g0020 a0020c0016t0008g0020	1	115	0.0087	429	c.75 others(438): Show c.758_*759insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGGAGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGCGGTGGTGTGTGAGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGGAGGGAGGGGAGGGAGGAAGAGGTGTGTGGGGGAG GGAGGGAGGAAGAGGAGGTGTGTGGGGAGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGAGGGAGGGAGGAGAGGTGGTGTGTGGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		670		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169723	C C	CCCTCCCT others(422): Show CCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCTCACACA CCACCGCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTC CCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCA CACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCTCACACACCACCGCT TCCTCCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCT CCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCT TCCTCCCTCCCTCCCCACACACCTCCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0006 a0001c0005t0001g0006	1	115	0.0087	429	c.30 others(438): Show c.308_*309insAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGT GGTGTGTGAGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAA GAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTG AGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		220		chrX	TogoVar
VGLL4_chr3_11551069_11648915	11605039	G G	GCCACGCC others(422): Show GCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCT TCCAAAGCCCCCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTG AATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATCCTC CACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCCCCGCCCA CCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCAC GCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAA AGCGCCCCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTGAAT TCCATCTTCCAAAGCGCCCCCACGCCCCCGCCCACCCCCAATCCTCCACA GCTCTGTGAATTCCATCTTCCAAAGCGCCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0246 a0001c0002t0007g0246	1	388	0.0026	429	c.83- others(444): Show c.83-3018_83-3017insGGGCGCTTTGGAAGATGGAATTCACAGAGC TGTGGAGGATTGGGGGTGGGCGGGGGCGTGGGGGCGCTTTGGAAGATGGA ATTCACAGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCT TTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGCGGGGGC GTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGG TGGGCGGGGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTG GAGGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATT CACAGAGCTGTGGAGGATTGGGGGTGGGCGGGGGCGTGGGGGGCTTTGGA AGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGCGGGGGCGTGG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
WDR64_chr1_241647281_241807777	241675073	G G	GCCTCCCT others(422): Show GCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCCTCCTCCCTCCCTCCCT CCCTCCTCCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTC CCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCGC CTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCC CTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCC TCCCTCCCTCCTGCCTCCCTCCCTCCCTCCCGCCTCCCTCCCTCCCTCCC GCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCT CCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTC CCTCCCTCCTTCCTGCCTCCCTCCCTCCTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0011 a0012c0017t0011	a0012c0017t0011g0217 a0012c0017t0011g0217	1	326	0.0031	429	c.483 others(444): Show c.483+337_483+338insCCTTCCTGCCTCCCTCCCTCCCTCCTCCCT CCCTCCCTCCCTCCTCCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCT CCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTC CCTCCCGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCC CTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCC TGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCCGCCTCCCTCCC TCCCTCCCGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCT CCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCT CCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTCCCTCCCT	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
YBEY_chr21_46281342_46302751	46293686	A A	AATTCCTC others(422): Show AATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAG CCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCT CCCGTGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGACAGCCACGCA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCTG GGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACACAAG TTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACACAAGTTAAACTCTAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	404	0.0025	429	c.339 others(446): Show c.339+2249_339+2250insATGCCCGGGACTCAGTGGGGACAGCCAC ACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCG TGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGACAGCCACGCAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCTGGGAC TCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACACAAGTTAA ACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AGTCAGCCACACAAGTTAAACTCTAGATTCCTCCCGCGGTTAGCCTGACC C	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(422): Show GATATATATCATATGTGATATATATGGTATATATGATATATATCATATAT ATCATATGTGATATATATGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATATATGTCACATATATCATATGTGATATAT GTCACATATATCACATGTGATATATATCATATATATCATATATATGATAT ATATCATATATATCATATATATGACATATATCATATATCATATATATGAT ATATATCACATATATATATCATATATATCACATATATATCATATATATCA TATATATATCATATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	350	0.0029	429	c.-35 others(440): Show c.-3503_-3502insATATATATCATATGTGATATATATGGTATATATG ATATATATCATATATATCATATGTGATATATATGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATATATGTCACATATA TCATATGTGATATATGTCACATATATCACATGTGATATATATCATATATA TCATATATATGATATATATCATATATATCATATATATGACATATATCATA TATCATATATATGATATATATCACATATATATATCATATATATCACATAT ATATCATATATATCATATATATATCATATATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(422): Show GATATATATCATATGTGATATATATGGTATATATGATATATATCATATAT ATCATATGTGATATATATGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATATATGTCACATATATCATATGTGATATAT GTCACATATATCACATGTGATATATATCATATATATCATATATATGATAT ATATCATATATATCATATATATGATATATATCATATATCATATATATGAT ATATATCACATATATATATCATATATATCACATATATATCATATATATCA TATATATATCATATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	350	0.0029	429	c.-35 others(440): Show c.-3503_-3502insATATATATCATATGTGATATATATGGTATATATG ATATATATCATATATATCATATGTGATATATATGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATATATGTCACATATA TCATATGTGATATATGTCACATATATCACATGTGATATATATCATATATA TCATATATATGATATATATCATATATATCATATATATGATATATATCATA TATCATATATATGATATATATCACATATATATATCATATATATCACATAT ATATCATATATATCATATATATATCATATATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(422): Show GATATATATCATATGTGATATATATGGTATATATGATATATATCATATAT ATCATATGTGATATATATGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATATAT GTCACATATATCACATGTGATATATGTCACATATATCATATGTGATATAT GTCACATATATCACATGTGATATATATCATATATATCATATATATGATAT ATATCATATATATCATATATATGATATATATCATATATCATATATATGAT ATATATCACATATATATATCATATATATCACATATATATCATATATATCA TATATATATCATATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	350	0.0029	429	c.-35 others(440): Show c.-3503_-3502insATATATATCATATGTGATATATATGGTATATATG ATATATATCATATATATCATATGTGATATATATGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATATATGTCACATATATCACATGTGATATATGTCACATATA TCATATGTGATATATGTCACATATATCACATGTGATATATATCATATATA TCATATATATGATATATATCATATATATCATATATATGATATATATCATA TATCATATATATGATATATATCACATATATATATCATATATATCACATAT ATATCATATATATCATATATATATCATATATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(422): Show GATATATATCATATGTGATATATATGGTATATATGATATATATCATATAT ATCATATGTGATATATATGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATATAT GTCACATATATCATATGTGATATATGTCACATATATCATATGTGATATAT GTCACATATATCACATGTGATATATATCATATATATCATATATATCATAT ATATCATATATATCATATATATGACATATATCATATATCATATATATGAT ATATATCACATATATATATCATATATATCACATATATATCATATATATCA TATATATATCATATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	350	0.0029	429	c.-35 others(440): Show c.-3503_-3502insATATATATCATATGTGATATATATGGTATATATG ATATATATCATATATATCATATGTGATATATATGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATATA TCATATGTGATATATGTCACATATATCACATGTGATATATATCATATATA TCATATATATCATATATATCATATATATCATATATATGACATATATCATA TATCATATATATGATATATATCACATATATATATCATATATATCACATAT ATATCATATATATCATATATATATCATATATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(422): Show GATATATATCATATGTGATATATATGGTATATATGATATATATCATATAT ATCATATGTGATATATATGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATATAT GTCACATATATCATATGTGATATATGTCACATATATCATATGTGATATAT GTCACATATATCACATGTGATATATATCATATATATCATATATATGATAT ATATCATATATATCATATATATGACATATATCATATATCATATATATGAT ATATATCACATATATATATCATATATATCACATATATATCATATATATCA TATATATATCATATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03834.hp2 NA20905.hp2 HG03688.hp1 HG03834.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	3	350	0.0086	429	c.-35 others(440): Show c.-3503_-3502insATATATATCATATGTGATATATATGGTATATATG ATATATATCATATATATCATATGTGATATATATGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATATA TCATATGTGATATATGTCACATATATCACATGTGATATATATCATATATA TCATATATATGATATATATCATATATATCATATATATGACATATATCATA TATCATATATATGATATATATCACATATATATATCATATATATCACATAT ATATCATATATATCATATATATATCATATATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(422): Show GATATATATCATATGTGATATATATGGTATATATGATATATATCATATAT ATCATATGTGATATATATGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATATAT GTCACATATATCATATGTGATATATGTCACATATATCATATGTGATATAT GTCACATATATCACATGTGATATATATCATATATATCATATATATGATAT ATATCATATATATCATATATATGATATATATCATATATCATATATATGAT ATATATCACATATATATATCATATATATCACATATATATCATATATATCA TATATATATCATATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 NA18946.hp2 NA18957.hp2 others(2): Show HG03831.hp2 NA18946.hp2 NA18957.hp2 NA18977.hp2 NA18981.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0010 a0002c0002t0001g0001 a0002c0002t0001g0014 others(1): Show a0001c0001t0004g0010 a0002c0002t0001g0001 a0002c0002t0001g0014 a0002c0002t0001g0084	5	350	0.0143	429	c.-35 others(440): Show c.-3503_-3502insATATATATCATATGTGATATATATGGTATATATG ATATATATCATATATATCATATGTGATATATATGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATATA TCATATGTGATATATGTCACATATATCACATGTGATATATATCATATATA TCATATATATGATATATATCATATATATCATATATATGATATATATCATA TATCATATATATGATATATATCACATATATATATCATATATATCACATAT ATATCATATATATCATATATATATCATATATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(422): Show GATATATATCATATGTGATATATATGGTATATATGATATATATCATATAT ATCATATGTGATATATATGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATATATGTCACATATATCATATGTGATATAT GTCACATATATCATATGTGATACATATGACATATATCATATGTGATATAT GTCACATATATCATATGTGATATATGTCACATATATCATATGTGATATAT GTCACATATATCACATGTGATATATATCATATATATCATATATATGATAT ATATCATATATATCATATATATGATATATATCATATATCATATATATGAT ATATATCACATATATATATCATATATATCACATATATATCATATATATCA TATATATATCATATATATCATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	350	0.0029	429	c.-35 others(440): Show c.-3503_-3502insATATATATCATATGTGATATATATGGTATATATG ATATATATCATATATATCATATGTGATATATATGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATATATGTCACATATA TCATATGTGATATATGTCACATATATCATATGTGATACATATGACATATA TCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATATA TCATATGTGATATATGTCACATATATCACATGTGATATATATCATATATA TCATATATATGATATATATCATATATATCATATATATGATATATATCATA TATCATATATATGATATATATCACATATATATATCATATATATCACATAT ATATCATATATATCATATATATATCATATATATCATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF862_chr7_149833375_149872479	149858875	A A	ATGGGCCA others(422): Show ATGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGG GCAGAGGGGCACACGCATGGGCCAGCTGTGGGGGCAGAGGGGCACACGCG TGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGG CAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGT GGGCCAGCTGTGGGGGCAGAGGGGCACACGCATGGGCCAGCTGTGGGGGC AGAGGGGCACACGCATGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTG GGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCA GAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGG GCCAGCTGTGGGGGCAGAGGGGCACACGCG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0017 a0017	a0017c0033 a0017c0033	a0017c0033t0003 a0017c0033t0003	a0017c0033t0003g0328 a0017c0033t0003g0328	1	412	0.0024	429	c.111 others(446): Show c.1118-515_1118-514insGTGGGCCAGCTGTGGGGGCAGAGGGGCA CACGCATGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTG TGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCAC ACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGT GGGGGCAGAGGGGCACACGCATGGGCCAGCTGTGGGGGCAGAGGGGCACA CGCATGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTG GGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACAC GCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGG GGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACG C	ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF862_chr7_149833375_149872479	149859070	C C	CGCGTGGG others(422): Show CGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTG GGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACAC GCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGG GGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACG CGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGG GGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGC GTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGG GCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACGTGCG TGGGCCAGCTGTGGGGGCAGAGGGGCACGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0062 a0001c0005t0002g0062	1	412	0.0024	429	c.111 others(446): Show c.1118-334_1118-333insGGCAGAGGGGCACACGCGTGGGCCAGCT GTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCA CACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTG TGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCAC ACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGT GGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACA CGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTG GGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACGT GCGTGGGCCAGCTGTGGGGGCAGAGGGGCACGTGCGTGGGCCAGCTGTGG G	ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZSCAN32_chr16_3377085_3406004	3393207	T T	TATATATA others(422): Show TATATATAAATATATATATATTTATATATATATAAATATATATATATTTA TATATATAAATATATATATATAAATATATATATATTTATATATATATATT TATATATATAAATATATATATTTATATATATATTTATATATATATAAATA TATATATATAAATATATATATATAAATATAAATAAATATATATTTATATA TATAAATAAATATATATTTATATATATATTTATATATATATAAATATATA TATATATTTATATATATAAATATATATATATTTATATATATATAAATATA TATATATTTATATATATATATATAAATATATATATATATTTTATATATAT ATATAAATATATATATATATTTTATATATATATATAAATATATATATATA TTTTATATATATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	400	0.0025	429	c.532 others(444): Show c.532+441_532+442insTATATATATATTATATATATATATATAAAA TATATATATATATTTATATATATATATAAAATATATATATATATTTATAT ATATATATAAAATATATATATATATTTATATATATATATATAAATATATA TATATTTATATATATATAAATATATATATATTTATATATATAAATATATA TATATATTTATATATATATAAATATATATATAAATATATATTTATTTATA TATATAAATATATATTTATTTATATTTATATATATATATTTATATATATA TATTTATATATATATAAATATATATATAAATATATATATTTATATATATA AATATATATATATAAATATATATATATTTATATATATATATTTATATATA TAAATATATATATATTTATATATATATAAATATATATATATTTATATAT	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ACAP3_chr1_1287391_1312930	1288511	T T	TCCCGTGT others(423): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	295	0.0034	430	c.50 others(441): Show c.5052_*5053insGGACGGAGCAGAGACACGGGGGACGGGGCAGAGA CACGGGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGG GGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGG ACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGGGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGAC GGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGG GACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3879		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATATA others(423): Show AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTT ATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	430	c.-10 others(441): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATTTATGATATATAAATA TAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500842	A A	AGGGGAGG others(423): Show AGGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGG AGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGG AGGAGGGGAGGGGGGAGGGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGG GGGAGGAGGGGGGAGGAGGGGGAGGGGGGGAGGAGGGGAGGGGGGGAGGA GGGAGGAGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGG AGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAG GGAAGGGGTGAGGGGGAGGAGGGGAGGAGGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGAGGGGAAGGGGGAGGGGGAGGGGGGAGGAGGGGAGGGC GGGGAGGAGGGGACGGGGGAGGAGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	352	0.0028	430	c.51 others(441): Show c.5172_*5173insCCCTCCCCTCCTCCCCCGTCCCCTCCTCCCCGCC CTCCCCTCCTCCCCCCTCCCCCTCCCCCTTCCCCTCCTCCCCCTCCCCTT CCCCTCCTCCCCCTCCCCCTCCTCCCCTCCTCCCCCTCACCCCTTCCCTC CTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCTCCC CCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCCTCCTCCCTCC TCCCCCCCTCCCCTCCTCCCCCCCTCCCCCTCCTCCCCCCTCCTCCCCCC CTCCCCTCCTCCCTCCTCCCCCTCCCCCCCCTCCCCCCTCCCCTCCTCCC CCCCTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCC CCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCCTCCTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4179		chr19	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(423): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CGTATACGTATACACACATATACACGTATACGTATACACACATATACACG TATACGTATACACACATATACACGTATACGTATACGTGTACACACATATA CACGTATATACGTATACGTGTACACACATATACACGTATATACGTATACG TGTACACACATATATATACACGTATATATACGTATACGTGTACACACACA CGTATATATACGTATACGTGTACACACACGTATATATACGTATACGTGTA CACACACACGTATATATACGTATACGTGTACACACACACGTATATATACG TATACGTGTACACACACACGTATATATACGTATACGTGTACACACACACG TATATACGTATACGTGTACACACACACACGT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0069 a0001c0001t0051g0069	1	169	0.0059	430	c.48- others(447): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACGTATACGTATACACACATATACACGTATACGTATACACACAT ATACACGTATACGTATACACACATATACACGTATACGTATACGTGTACAC ACATATACACGTATATACGTATACGTGTACACACATATACACGTATATAC GTATACGTGTACACACATATATATACACGTATATATACGTATACGTGTAC ACACACACGTATATATACGTATACGTGTACACACACGTATATATACGTAT ACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTAT ATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACAC ACACACGTATATACGTATACGTGTACACACACACACGTATATACGTATAC GT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581275	T T	TACGTATA others(423): Show TACGTATACGTATACACACATATACGTATACGTATACACACATATACACG TATACGTATACACACATATACACGTATACGTATACACACATATACACGTA TACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACACA CATATACACGTATATACGTATACGTGTACACACATATATATACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0078 a0001c0001t0035g0078	1	169	0.0059	430	c.48- others(447): Show c.48-70722_48-70721insGTATACGTATACACACATATACGTATAC GTATACACACATATACACGTATACGTATACACACATATACACGTATACGT ATACACACATATACACGTATACGTATACGTGTACACACATATACACGTAT ATACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACAC ACATATATATACACGTATATATACGTATACGTGTACACACACACGTATAT ATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACAC ACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATAC GTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATAT ATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACAC AC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ANKLE2_chr12_132720503_132766832	132729597	A A	AGGGGAGG others(423): Show AGGGGAGGGGAGGTGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAG GGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGAC GGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGAAG GTGAGGGGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGAA GGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGGG AGGGGGAGGTGAGGGGAGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGG GAGGGGGAGGGAGGATGGGAGGGGAGGGGGGAGGGGAGGGGAAGGTGAGA GAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAGGC GAGGGGAGGGGGAGGGGGAGGGGGAGGCGAG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0022 a0022	a0022c0038 a0022c0038	a0022c0038t0016 a0022c0038t0016	a0022c0038t0016g0303 a0022c0038t0016g0303	1	350	0.0029	430	c.248 others(445): Show c.2483+81_2483+82insCTCGCCTCCCCCTCCCCCTCCCCCTCCCCT CGCCTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTT CTCTCACCTTCCCCTCCCCTCCCCCCTCCCCTCCCATCCTCCCTCCCCCT CCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCTCCCCTCACCTCCCCC TCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCC CTTCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTCA CCTTCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACC CGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCAC CCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTCACCTCCCCTCCCC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
AP3D1_chr19_2095988_2156566	2128990	C C	CGCTCCGA others(423): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTG GAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCA CCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGC CGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCC ACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGAC ACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0375 a0001c0001t0003g0375	1	406	0.0025	430	c.806 others(444): Show c.806+99_806+100insTGTGGGGCGGGCCGGCTCCACGGGGTGCAGT GTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGT GGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCG GCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGG TGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCG GAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGG CGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTC CACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCA GTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(423): Show GGTGAGCACTTCCCACCCCCGTGACCACACATTTACAGTGAGCACTTCCC ACCCCTGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCAC ACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGC ACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCC GTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTG GCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCC CACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCA CACATTTACAGTGAGCACTTCCCACCCCTGTGACCACACACTGGCGGTGA GCACTTCCCACCCCGTGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0217 a0001c0002t0022g0217	1	246	0.0041	430	c.-18 others(441): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGG TCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGA AGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAG TGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCT CACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTG GTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGGG AAGTGCTCACTGTAAATGTGTGGTCACGGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1833001	C C	CAGAGGCA others(423): Show CAGAGGCAGAAAGAGACAGAGACGGAGAGAGAGACAGGCAGAGAGAGACA GACAGAGGCAGAGGCAGAGACAGAAATAGACAGAGGCAGAGAGAGACACA GGCAGAGACAGAGAGAGACAGAGACAGAGACAGGCAGAGAGACAGAGGCA GAGACAGAGACAGGCAGAGACAGAGGCAGAGAGAGACAGAGACAGAGGCA GAGAGAGACAGAGGGAGGCAGAGACAGAGGCAGAGGCAGAGACAGAAGCA GAGGGAGGCAGAGGGAGACAGACAGAGGCAGAGACAGAGGCAGAGAGAGA CAGGCAGAGACAGAGGCAGAGGCAGAGACAGAGATAGAGGCAGAGAGAGA TACAGGCAGAGACAGAGACAGAGAGACAGAGACAGGCAGAGAGATACAGA GAGACAGAGGCAGAGAGACAGACAGAGACAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp1 HG01109.hp2 others(3): Show HG00323.hp1 HG01074.hp1 HG01109.hp2 HG01515.hp2 HG01943.hp2 HG03017.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0006c0089	a0001c0001t0002 a0001c0002t0001 a0001c0008t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0008t0002 a0006c0089t0001	a0001c0001t0002g0030 a0001c0001t0002g0066 a0001c0001t0002g0069 others(3): Show a0001c0001t0002g0030 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0002t0001g0037 a0001c0008t0002g0067 a0006c0089t0001g0070	6	363	0.0165	430	c.-48 others(447): Show c.-48+8890_-48+8891insAGGCAGAAAGAGACAGAGACGGAGAGAG AGACAGGCAGAGAGAGACAGACAGAGGCAGAGGCAGAGACAGAAATAGAC AGAGGCAGAGAGAGACACAGGCAGAGACAGAGAGAGACAGAGACAGAGAC AGGCAGAGAGACAGAGGCAGAGACAGAGACAGGCAGAGACAGAGGCAGAG AGAGACAGAGACAGAGGCAGAGAGAGACAGAGGGAGGCAGAGACAGAGGC AGAGGCAGAGACAGAAGCAGAGGGAGGCAGAGGGAGACAGACAGAGGCAG AGACAGAGGCAGAGAGAGACAGGCAGAGACAGAGGCAGAGGCAGAGACAG AGATAGAGGCAGAGAGAGATACAGGCAGAGACAGAGACAGAGAGACAGAG ACAGGCAGAGAGATACAGAGAGACAGAGGCAGAGAGACAGACAGAGACAG AG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(423): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCCACCCCCC ACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCC CCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCC CCACCCCCACCTCCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCC CCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCAC CTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCA CCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCTA CCCCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCACCCCCCCA CCTCCCCCCACCCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0044 a0001c0043t0044	a0001c0043t0044g0148 a0001c0043t0044g0148	1	254	0.0039	430	c.39+ others(447): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCC ACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCC CCACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCA CCTCCCCCCACCCCCACCTCCCCCCACCTCCCCCACCTCCCCCCACCCCC CACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCCAC CCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCA CCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCA CCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCAC CCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCACCCCCCCACCTCCCC CC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar

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