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
RPH3AL_chr17_207389_357807	315028	C C	CCTGTAGT others(809): Show CCTGTAGTCCCTGTGACTCCACCTCCATTGAACTGTAGTCCCTGTGCCCC ACCTCCATTGACCTGTAGTCCCTGTGACTCCACCTCCATTGACCTGTAGT CTCTGTGCTCCACCTCCACTGACCTGTAGTCCCTGTGCCCCACCTCCATT GACCTGCAGTCTCTGTACTCCACGTCCATTGACCTGTAGTCCCTGTGACT TCACCTCCATTGACCTGTAGTCCCTGTGCTCCACCTCCATTGACCTGTAG TCTCTGTGACCCCACCTCCATTGGCCTGTAGTCCCTGTACTCCACGTCCA TTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGTGC CCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTA GTCCCTGTGCTCCACGTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCA TTGACCTGTAGTCCCTGTGACTCCACCTCCATTGACCTGTAGTCTCTGTG CTCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGT AGTCTCTGTGACCCCACCTCCATTGACCTGTAGTCCCTGTACTCCACGTC CATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGTAGTCCCTGT GCCCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCAG TAGTCCCTGTGCCCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTC CATTGACCAGTAGTCCCTGTGCCCCACCTCCATTGACCTGTAGTCTCTGT GCTCCACCTCCACTGAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0098 a0001c0001t0007g0098	1	61	0.0164	816	c.351 others(833): Show c.351+4391_351+4392insTTCAGTGGAGGTGGAGCACAGAGACTAC AGGTCAATGGAGGTGGGGCACAGGGACTACTGGTCAATGGAGGTGGAGCA CAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTACTGGTCAATGG AGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTAC AGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGACGTGGAGTA CAGGGACTACAGGTCAATGGAGGTGGGGTCACAGAGACTACAGGTCAATG GAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGAGCACAGAGACTA CAGGTCAATGGAGGTGGAGTCACAGGGACTACAGGTCAATGGAGGTGGAG CACAGAGACTACAGGTCAATGGACGTGGAGCACAGGGACTACAGGTCAAT GGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACT ACAGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGACGTGGAG TACAGGGACTACAGGCCAATGGAGGTGGGGTCACAGAGACTACAGGTCAA TGGAGGTGGAGCACAGGGACTACAGGTCAATGGAGGTGAAGTCACAGGGA CTACAGGTCAATGGACGTGGAGTACAGAGACTGCAGGTCAATGGAGGTGG GGCACAGGGACTACAGGTCAGTGGAGGTGGAGCACAGAGACTACAGGTCA ATGGAGGTGGAGTCACAGGGACTACAGGTCAATGGAGGTGGGGCACAGGG ACTACAGTTCAATGGAGGTGGAGTCACAGGGACTACAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	356432	C C	CCACACAT others(809): Show CCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACT AACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCT TCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGAC CGCGCACCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACA CATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAG TCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGCCTTCACA GGCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGACCGCGC ACCACACTTACTAACAGTCGCCTTCACAGGCGACCGCGCACCACACTTAC TAACAGTCGCCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCC TTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGA CCGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGACCGCGCACCAC ACTTACTAACAGTCGCCTTCACAGGCGACCGCGCACCACACTTACTAACA GTCGCCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCTTCAC AGGCGACCGCGCACCACACTTACTAACAGTCGCCTTCACGGGCGACCGTG CACCACACATACTAACAGTCGCCTTCACGGGCGACCGTGCACCACACATA CTAACAGTCGCCTTCACGGGCGACCGTGCACCACACTTACTAACAGTCGT CTTCACGGGCGACCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	113	0.0088	816	c.-39 others(827): Show c.-3934_-3933insCACGGTCGCCCGTGAAGACGACTGTTAGTAAGTG TGGTGCACGGTCGCCCGTGAAGGCGACTGTTAGTATGTGTGGTGCACGGT CGCCCGTGAAGGCGACTGTTAGTATGTGTGGTGCACGGTCGCCCGTGAAG GCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAG TAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTG CGCGGTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCT GTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGAC TGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAAGT GTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGG TCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAA GGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTA GTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGT GCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCC TGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGA CTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAG TGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCG GTCGCCTGTGAAGACGACTGTTAGTATGTGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3626		chr17	TogoVar
RPH3AL_chr17_207389_357807	356432	C C	CCACACAT others(809): Show CCACACATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACT AACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCT TCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGAC CGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACA CATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAG TCGCCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCTTCACA GGCGACCGCGCACCACACATACTAACAGTCGCCTTCACAGGCGACCGCGC ACCACACTTACTAACAGTCGCCTTCACAGGCGACCGCGCACCACACTTAC TAACAGTCGCCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGCC TTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGA CCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCAC ACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACA GTCGCCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCTTCAC AGGCGACCGTGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGTG CACCACACATACTAACAGTCGCCTTCACGGGCGACCGTGCACCACACATA CTAACAGTCGCCTTCACGGGCGACCGTGCACCACACTTACTAACAGTCGT CTTCACGGGCGACCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0032 a0001c0001t0007g0032	1	113	0.0088	816	c.-39 others(827): Show c.-3934_-3933insCACGGTCGCCCGTGAAGACGACTGTTAGTAAGTG TGGTGCACGGTCGCCCGTGAAGGCGACTGTTAGTATGTGTGGTGCACGGT CGCCCGTGAAGGCGACTGTTAGTATGTGTGGTGCACGGTCGCCTGTGAAG ACGACTGTTAGTAAGTGTGGTGCACGGTCGCCTGTGAAGGCGACTGTTAG TAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTG CGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCT GTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGAC TGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTATGT GTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGG TCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAA GGCGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTA GTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTATGTGTGGT GCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCC TGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGA CTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAG TGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCG GTCGCCTGTGAAGACGACTGTTAGTATGTGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3626		chr17	TogoVar
RPH3AL_chr17_207389_357807	356450	G G	GTCTTCAC others(809): Show GTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTA ACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTT CACAGGCGACCGCGCACCACACATACTAACAGTCGCCTTCACAGGCGACC GCGCACCACACATACTAACAGTCGCCTTCACAGGCGACCGCGCACCACAC ATACTAACAGTCGCCTTCACAGGCGACCGCGCACCACACTTACTAACAGT CGCCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAG GCGACCGCGCACCACACATACTAACAGTCGCCTTCACAGGCGACCGCGCA CCACACTTACTAACAGTCGCCTTCACAGGCGACCGCGCACCACACTTACT AACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCT TCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGAC CGCGCACCACACTTACTAACAGTCGCCTTCACAGGCGACCGTGCACCACA CTTACTAACAGTCGTCTTCACGGGCGACCGTGCACCACACATACTAACAG TCGCCTTCACGGGCGACCGTGCACCACACATACTAACAGTCGCCTTCACG GGCGACCGTGCACCACACTTACTAACAGTCGTCTTCACGGGCGACCGTGC ACACTTACTAACAGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0021	1	71	0.0141	816	c.-39 others(827): Show c.-3952_-3951insTGACTGTTAGTAAGTGTGCACGGTCGCCCGTGAA GACGACTGTTAGTAAGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTA GTATGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTAGTATGTGTGGT GCACGGTCGCCCGTGAAGACGACTGTTAGTAAGTGTGGTGCACGGTCGCC TGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGA CTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAAG TGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCG GTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGA AGGCGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTT AGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGG TGCGCGGTCGCCTGTGAAGGCGACTGTTAGTATGTGTGGTGCGCGGTCGC CTGTGAAGGCGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGGCG ACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAT GTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGC GGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTG AAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGT TAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3644		chr17	TogoVar
RPH3AL_chr17_207389_357807	356450	G G	GTCTTCAC others(809): Show GTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTA ACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGCCTT CACAGGCGACCGCGCACCACACATACTAACAGTCGCCTTCACAGGCGACC GCGCACCACACTTACTAACAGTCGCCTTCACAGGCGACCGCGCACCACAC ATACTAACAGTCGCCTTCACAGGCGACCGCGCACCACACTTACTAACAGT CGCCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCTTCACAG GCGACCGCGCACCACACATACTAACAGTCGCCTTCACAGGCGACCGCGCA CCACACTTACTAACAGTCGCCTTCACAGGCGACCGCGCACCACACTTACT AACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCT TCACAGGCGACCGCGCACCACACTTACTAACAGTCGCCTTCACGGGCGAC CGCGCACCACACTTACTAACAGTCGCCTTCACGGGCGACCGCGCACCACA CTTACTAACAGTCGCCTTCACGGGCGACCGTGCACCACACATACTAACAG TCGCCTTCACGGGCGACCGTGCACCACACATACTAACAGTCGCCTTCACG GGCGACCGTGCACCACACTTACTAACAGTCGTCTTCACGGGCGACCGTGC ACACTTACTAACAGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0025 a0001c0001t0014g0025	1	71	0.0141	816	c.-39 others(827): Show c.-3952_-3951insTGACTGTTAGTAAGTGTGCACGGTCGCCCGTGAA GACGACTGTTAGTAAGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTA GTATGTGTGGTGCACGGTCGCCCGTGAAGGCGACTGTTAGTATGTGTGGT GCACGGTCGCCCGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCC CGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCCGTGAAGGCGA CTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAG TGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCG GTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGA AGGCGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTT AGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAAGTGTGG TGCGCGGTCGCCTGTGAAGGCGACTGTTAGTATGTGTGGTGCGCGGTCGC CTGTGAAGGCGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGGCG ACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGGCGACTGTTAGTAT GTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGC GGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTG AAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGT TAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3644		chr17	TogoVar
SDK1_chr7_3296252_4274000	3976059	G G	GCAGAGGG others(809): Show GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGGGGTTCCCGGGGCTGAGGCTGCC ACGCAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCG GGGCTGAGGCTGCCACA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0050 a0001c0039t0050	a0001c0039t0050g0022 a0001c0039t0050g0022	1	108	0.0093	816	c.199 others(835): Show c.1994+1514_1994+1515insCAGAGGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTG GGGTTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(809): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCC GGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTACCACACAGACGGTCCTCCAGAGAATCACTGGGGGTC CCGGGGCTGAGGCTGCGAGGCTACCACACAGACGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0041 a0001c0060t0041	a0001c0060t0041g0080 a0001c0060t0041g0080	1	48	0.0208	816	c.199 others(835): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTACCACACAGACGGT CCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTACCAC ACAGACGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CCACGCAG others(809): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCC GGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACTGGGGGTC CCGGGGCTGAGGCTGCGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0008 a0001c0011t0008	a0001c0011t0008g0028 a0001c0011t0008g0028	1	67	0.0149	816	c.199 others(835): Show c.1994+2656_1994+2657insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGT CCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCAC ACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(809): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	230	0.0043	816	c.115 others(833): Show c.115-2573_115-2572insGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(809): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCC AGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCA GCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCG CCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGG GGGGGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	207	0.0048	816	c.284 others(835): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCT GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGGCCGACCCCCCCCCACCTCCCTCCCAGACGGGG CGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCTGGACGGGGC GGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(809): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCA GCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCG CCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGG GGGGGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0279 a0001c0005t0001g0279	1	207	0.0048	816	c.284 others(835): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCT GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SLC24A3_chr20_19207642_19727926	19663413	C C	CTCCTCCT others(809): Show CTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCTACCTCCT GCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCTACCTCCTGCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCTCTACCTCCTGCACCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCA CCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCTCCTCCACCTCCACCT CCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0100 a0001c0003t0002g0100	1	89	0.0112	816	c.688 others(833): Show c.688-2442_688-2441insACCTCCTCCTCCTCCTCCTCCACCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCT CTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCTACCTCCTGCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCT CTACCTCCTGCACCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCTCCT CCACCTCCACCTCCACCTCCTCCTCCACTTCCTCCTCC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CTCCTCCT others(809): Show CTCCTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTGCACCTCCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCC TCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTC CTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACTTCC TCCTCCACCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCT CCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCC TCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTC CTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCT CCACCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCT CCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0002 a0001c0001t0010g0002	1	89	0.0112	816	c.688 others(833): Show c.688-2426_688-2425insCCTCCTCCACTTCCTCCTCCACCTCCTC CTCTACCTCCTGCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACC TCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTGCACC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCC TCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCACCTCCTCCTCCTCCACCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACTT	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19663441	T T	TCCTCCAC others(809): Show TCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTGCACCTCCTCCTC CTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCT CCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTGCACCTCCTCC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCACCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCACCTCCACCTCCA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0059 a0001c0004t0001g0059	1	147	0.0068	816	c.688 others(833): Show c.688-2422_688-2421insCTCCACTTCCTCCTCCACCTCCTCCTCT ACCTCCTGCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCT GCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCACCTCCT CCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACTTCCTCCTCCACCTCCTCCT CTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCT CCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCAC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(809): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGA GGAGAGAGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGGAGA GGAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGA GGAGGAGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAA GGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAG GAGGGGAGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGAGGGAGAAAGGAA GAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03516.hp2 NA18906.hp2 HG02257.hp2 HG03516.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0011 a0001c0005t0005g0011	3	4	0.7500	816	c.624 others(831): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCTTCCTTTCTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCT CCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCTC CTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCT TTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCT TTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCT CCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCT CCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCC CCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCT CCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTC CTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
STAT3_chr17_42308324_42393442	42361770	C C	CAAGATAT others(809): Show CAAGATATCTGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGT CTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCACC CCTACTAGGAAGTGAGGAGCCCCTCTGCCCAGCCACCACCTCGTCTGGGA GGTGTACCCAACAGCTCATTGAGAACGGGCCAGGATGACAATGGCGGTTT TGTGGAATAGAAAGGGGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATG GTTGCCGTGTCTGTGTAGAAAGTAGACATGGGAGACTTTTCATTTTGTTC TGTACTAAGATAAATTCTTCTGCCTTGGGATCCTGTTGATCGGTGACCTT ACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTA AATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAG GCAGCATGCTCGTTAAGAATCATCACCACTCCCTAATCTCAAGTACCCAG GGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAG AGACCTTTGTTCACTTGTTTATCTGCCAACCTTCCCTCCACTATTGTCCT ATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATA AAAAAAATAAAAATTTAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	299	0.0033	816	c.-23 others(835): Show c.-23-13232_-23-13231insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTCTTTTTTTTTTAAATTTTTATTTTTTTTATTGATCA TTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATA GTGGAGGGAAGGTTGGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTC CTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACT TGAGATTAGGGAGTGGTGATGATTCTTAACGAGCATGCTGCCTTCAAGCA TCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGA GTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACC GATCAACAGGATCCCAAGGCAGAAGAATTTATCTTAGTACAGAACAAAAT GAAAAGTCTCCCATGTCTACTTTCTACACAGACACGGCAACCATCCGATT TCTCAATCTTTTCCCCACCTTTCCCCCCTTTCTATTCCACAAAACCGCCA TTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACG AGGTGGTGGCTGGGCAGAGGGGCTCCTCACTTCCTAGTAGGGGTGGCTGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCAGACCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACAGATATCTT	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	1/23			chr17	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(809): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGG AAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAG GAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGG AAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAG GAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGA GGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGG AAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGG AAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	3	0.3333	816	c.597 others(833): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTCCTTCCTT TCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCC TTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCT CCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCC CTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCT CCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCC TTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCT CCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTC CCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCT CCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCC TTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TCF3_chr19_1604292_1657615	1629005	C C	CAGGGGGT others(809): Show CAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCGCAGGGGGTGAGGCGG AAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCA GGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAG AGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCATGGGGGTGA GGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCGCAGGGGG TGAGGCGGAAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGG TGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGG ACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGG GGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGG GGACAGCAGAGCTCGCA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0015 a0002c0001t0015	a0002c0001t0015g0058 a0002c0001t0015g0058	1	261	0.0038	816	c.299 others(833): Show c.299-1580_299-1579insTGCGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCT GCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTT CTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCC GCCTCACCCCGTGAGTTCTGCTGTCCCCTTTCCGCCTCACCCCCTGCGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTT CCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCATG AGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTT CCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGT GAGTTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCTGCCCCACCCC CGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTTCCGCCTCACCC CCTGCGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(809): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATTATATACATATTATATATTATATACATATTATATATTATATATTA TATACATATTATACATTATATATATCTAAAATATATAATACACATTATAT ATTATATAATACACATTATATATAATATATAATACACATTATATATTATA TATAATACACATTATATATTATATATAATACACATTATATATTATATATA ATACACATTATATATTATATAATACACATTATATATTATATATAATACAC ATTATATATTATATATAATACACATTATATATTATATATAATACACATTA TATATTATATATAATACACATTATATATTATATAATACACATTATATATT ATATATAATACACATTATATATATAATACACATTATATATTATATATAAT ACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0020 a0003c0012t0020	a0003c0012t0020g0300 a0003c0012t0020g0300	1	82	0.0122	816	c.62 others(827): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATATAATA TATAATGTGTATTATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGT ATTATATATTATATATAATGTGTATTATATAATATATAATGTGTATTATA TATTTTAGATATATATAATGTATAATATGTATATAATATATAATATATAA TATGTATATAATATATAATATGTATATAATATATAATATATAATATGTAT ATAATATATAATATATAATATGTATATTATATATAATATATAATATGTAT ATAATATATAATATATAATATGTATATTATATATAATATATAATACATAT AATATGTATATTATATATATAATATATAATATATAATACATATAATATGT ATATTATATATATAATATATAATATATAATACATATAATATGCATATTAT ATATAATATATTATATAATGCATATAATAGGTATATTATATATAATGCAT ATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGTATATAATAGGTATATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
THEG_chr19_356747_381026	377008	C C	CCCCACCC others(809): Show CCCCACCCAGCCTCTTCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCCCC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCGCCCCCGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCACTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTAC CCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGT GCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCA CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCC CCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCA GCCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0043 a0001c0004t0002g0043	1	326	0.0031	816	c.-10 others(827): Show c.-1039_-1038insCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGG GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGTGGGGGAGAGGCTGGGT GGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGG CTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGTGGGGGAG AGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGGGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACG GGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CGGGGGCGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGG GTGGGGGCACGGGGGGGAAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		983		chr19	TogoVar
TMEM242_chr6_157284025_157328519	157313372	G G	GGATCCCA others(809): Show GGATCCCAGTGTCTGCTCACCTGGCCTCATCATAGTGTCCCAGTGTGCGC TCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTAGCCTCAACA TAGTGCCCCAGTGTGCGTTGACCTGGCCTCATTATAGTGCCCCAGTGAGC GCGCACCCGGCCTCATCATAGTGCCGCAGTGTGCGCTCACGTGACTTCAA CATAGTGTCCCAGTGTGCACTCACCCGGCCTCATCATAGTACCCCAGTGT GCACTCACCTGGCCTCATCATACTGTCCCAATGTGCACTCACCTGGCCTC ATCATAGTGTCCCAGGGTGCAATCACCAGGCCTCATCATAGTGTCCCAGT GTCCGCTCACCTGGCCTCATCATAGTGCGCCAGTGTGTGCTCAACTAGCC TCATCATAGTGCCCCATTGTGCGCTCATCTACCCTCATCATAGTGTCCCA GTGTGCACTCACCTGGCCTCATCATACTGTCCCAGTGTGCGCTCACCTAG CCTCATCATAGTGTCCCAGTGTGCACTCACCCGGTCTCATGATAGTGTCC CAGTGTGCGCTGACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACCT AGCCTCATCATAGTGTCCCAGTGTGAGCTCACCCGGCCTCATCATAGTGT CCCAGTGTGCGCTGACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCAC CTAGCCTCATCATAGTGTCCCAGTGTGAGCTCATCCGGACTCATCATAGT GTCCCAATGTGCACTCACACGGCCTCATCATAGTGTCCCAGTATGCACTC ACCCAGCCTCATCATAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0066 a0001c0003t0026g0066	1	99	0.0101	816	c.327 others(833): Show c.327+5409_327+5410insGTATGATGAGGCTGGGTGAGTGCATACT GGGACACTATGATGAGGCCGTGTGAGTGCACATTGGGACACTATGATGAG TCCGGATGAGCTCACACTGGGACACTATGATGAGGCTAGGTGAGTGCACA CTGGGACACTATGATGAGGCTAGGTCAGCGCACACTGGGACACTATGATG AGGCCGGGTGAGCTCACACTGGGACACTATGATGAGGCTAGGTGAGTGCA CACTGGGACACTATGATGAGGCTAGGTCAGCGCACACTGGGACACTATCA TGAGACCGGGTGAGTGCACACTGGGACACTATGATGAGGCTAGGTGAGCG CACACTGGGACAGTATGATGAGGCCAGGTGAGTGCACACTGGGACACTAT GATGAGGGTAGATGAGCGCACAATGGGGCACTATGATGAGGCTAGTTGAG CACACACTGGCGCACTATGATGAGGCCAGGTGAGCGGACACTGGGACACT ATGATGAGGCCTGGTGATTGCACCCTGGGACACTATGATGAGGCCAGGTG AGTGCACATTGGGACAGTATGATGAGGCCAGGTGAGTGCACACTGGGGTA CTATGATGAGGCCGGGTGAGTGCACACTGGGACACTATGTTGAAGTCACG TGAGCGCACACTGCGGCACTATGATGAGGCCGGGTGCGCGCTCACTGGGG CACTATAATGAGGCCAGGTCAACGCACACTGGGGCACTATGTTGAGGCTA GGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGAGCGCACACTGG GACACTATGATGAGGCCAGGTGAGCAGACACTGGGATC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM255B_chr13_113754226_113821995	113817317	T T	TCCTCCCC others(809): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGAACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAG GGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGG GACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCTCCACGGGACACATCCCCCCTCCCCCCAGGGGACA CATACCCCCTCCCTCCAGGGGACACATACCCCCTCCCTCCAGGGGACACA TCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATC CCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGACACATACC CCCTCCCTCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCC CTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCT CCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCC CTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCT CCAGGGGACACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 NA18951.hp2 HG00621.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0097 a0001c0001t0029 a0001c0001t0097	a0001c0001t0029g0059 a0001c0001t0097g0140 a0001c0001t0029g0059 a0001c0001t0097g0140	2	127	0.0157	816	c.54 others(827): Show c.5414_*5415insCCTCCCCCCACGGGACACATCCCCCCTCCCCCCA CGGGACACATACCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACG GGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGAACACATCCCCCCTCCCTCCTCGGGACAC ATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCC CCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCC CCTCCCTCCAGGGGACACATCCCCCCTCCCTCCACGGGACACATCCCCCC TCCCCCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATACCCCCTC CCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCC TCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCC CAGGGGACACATACCCCCTCCCTCCAGGGGACACATACCCCCTCCCTCCA GGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGG GGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGG ACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGC ACATCCCCCCTCCCTCCAGGGGACACATCCCC	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		323		chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113817328	C C	CGGGACAC others(809): Show CGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCACG GGACACATCCCTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGAT ACATCCCCCCTCCCTCCACGGGACACATCCCTCCTCCCCCCACGGGACAC ATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCACGGGACACAT CCCTCCTCCCCCCACGGGACACATACCCCCTCCCCCCACGGGACACATCC CCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCC CCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCC TCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTC CCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCC TCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCC CACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCT CGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACG GGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGAC ACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACAC ATCCCCCCTCCCTCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0097 a0001c0002t0053g0097	1	167	0.0060	816	c.54 others(827): Show c.5425_*5426insGGGACACATCCCCCCTCCCCCCACGGGACACATA CCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACC CCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCC CTCCCCCCACGGGATACATCCCCCCTCCCTCCACGGGACACATCCCTCCT CCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCC CCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCTCCCC CCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCC AGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCAC GGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGG GACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGA CACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACA CATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACA TCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATC CCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACC CCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCC CTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCAT	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		334		chr13	TogoVar
TP53AIP1_chr11_128930370_128947871	128930772	A A	AGGGGTTA others(809): Show AGGGGTTAGGGAGGCCGGGGTTAAGGAGGCCGGGGTTAGGGAGGCTGGGG TTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGG GAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGG CCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCG GGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGGGAGGCTGGGGTTAGGGAGCCCGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTA GGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGC CAGGGTTAGGGAGGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0063 a0001c0001t0015g0063	1	114	0.0088	816	c.48 others(827): Show c.4818_*4819insCGGCCTCCCTAACCCTGGCCTCCCTAACCCCTGG CCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCG GCCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAA CCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTC CCTAACCCCGGGCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCTG GCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTA ACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCC CAGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTGGC CTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCC TACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACC CCGGCCTCCTTAACCCCGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4597		chr11	TogoVar
TRIO_chr5_14138342_14515204	14347035	T T	TGGACCTG others(809): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACGTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGAC CAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGA CCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGG ACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTG GACCAGTCATCTCAGGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01175.hp2 HG00140.hp1 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0033 a0001c0002t0002g0034	2	134	0.0149	816	c.204 others(837): Show c.2046+10613_2046+10614insCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACGTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTG CAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCT GCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCC TGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTC CTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGT CCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGG TCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAG GTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGA GGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TWIST2_chr2_238843085_238915534	238870207	A A	ACACCCCA others(809): Show ACACCCCACACACACCACACACCCCACACACACCACACACCCTACACACC CCACACACACCACACCCCACACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCACACACACCACACACCCCCCCACACCACACCC CATACACACCACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCCACACACCCCA CACACCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCATACACACCACACCCCATACACACCACACACCCCACACACACCA CACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCA CACACACCACACACACCACACACCCCACACACACCACACCCCACACACAC CACACAAACCACACACCCTACACACCCCACACACACCACACACCACACAC ACCCCACACACACCACACCCCACACACACCACACACCCCCCACACACACC ACACCCCATACACACCACACCCCACACACACCACACCCCATACACACCAC ACACCCCACACACACCACACACCCCACACACACCACACCCCATACACACC ACACCCCCCACACACCACACACCCCACACACACCACACCCCACACACACC ACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	309	0.0032	816	c.35 others(835): Show c.35+21477_*35+21478insCCCACACACACCACACACCCCACACA CACCACACACCCTACACACCCCACACACACCACACCCCACACACACCACA CCCCATACACACCACACCCCACACACACCACACACCCCACACACACCACA CACCCCCCCACACCACACCCCATACACACCACACACCACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACACCCCACACAC ACCACACCCCACACACCCCACACACCACACACACCACACCCCACACACAC CACACACCCCACACACACCACACCCCATACACACCACACCCCATACACAC CACACACCCCACACACACCACACCCCACACACACCACACCCCATACACAC CACACCCCACACACACCACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACACCCCACACACACCACACACCCCACACAC ACCACACCCCACACACACCACACACACCACACACACCACACACCCCACAC ACACCACACCCCACACACACCACACAAACCACACACCCTACACACCCCAC ACACACCACACACCACACACACCCCACACACACCACACCCCACACACACC ACACACCCCCCACACACACCACACCCCATACACACCACACCCCACACACA CCACACCCCATACACACCACACACCCCACACACACCACACACCCCACACA CACCACACCCCATACACACCACACCCCCCACACACCACACACCCCACACA CACCACACCCCACACACACCACACACCCCACACACACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABCC2_chr10_99777640_99857594	99838952	C C	CAGGGGGG others(810): Show CAGGGGGGCCGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCT ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGACTGACCCCCCC CATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCGCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCTCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCAGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCAA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCGCCCGGAC GGGGCGGCTGGCCGGGCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0137 a0002c0003t0001g0137	1	324	0.0031	817	c.361 others(836): Show c.3614+2662_3614+2663insAGGGGGGCCGACCCCCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGC CGGGTGGGGGGACTGACCCCCCCCATCTCCCTCCCGGACGGGGTGGCTGG CCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCT CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGGCAGACCCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGT GGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGCG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31			chr10	TogoVar
ACAP3_chr1_1287391_1312930	1289847	G G	GTCTCTGC others(810): Show GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATTCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCATGTCTCTGCTCCGTC CCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0027 a0001c0005t0002g0027	1	225	0.0044	817	c.37 others(828): Show c.3716_*3717insGCAGAGACACGGGACGGAGCAGAGACACGGGACG GAGCAGAGACACGGGGAATGGAGCAGAGACACGGGACGGAGCAGAGACAT GGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGAATGGAGC AGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGA CGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGACACGG GGGACGGAGCAGAGACACGGGACGGAGCAGACACGGGGGACGGAGCAGAG ACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGC AGACACGGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGA GCAGAGACACGGGACGGAGCAGGGACACGGGGGACGGAGCAGAGACACGG GACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGAC ACGGGACGGAGCAGAGACACGGGGAATGGAGCAGAGACACGGGACGGAGC AGAGACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGA CGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGAC ACGGGACGGAGCAGAGACACGGGGAATGGAGCAGAGACACGGGACGGAGC AGAGACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGA CGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACAC GGGACGGAGCAGAGACACGGGACGGAGCAGAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2543		chr1	TogoVar
ADAMTS16_chr5_5135330_5325304	5305337	A A	ACACGCAC others(810): Show ACACGCACACCCCACACCACACACGCACATCCCACACCACACACACACAC ATCCCACACCACACACACATCCCACACCACACACACACACACACATCCCA CACCACACACACACTTCCCACACCACACACACACACACTTCCCACACCAC ACACACACAAATCCCACACCAGACACACACACATCCCACACCACACACAC ACACCACACACACCACACCACAGACACACACATCCCACACCACACACCCC CCACACACACACATCCCACACCACACACAGACATCCCACACCACACACAC ATCCCACACCACACACACACACATCCCGCACCACACACTCACACATCCCA CACCACACATACACATCCCACACCACACACACATACCACACCACACACAC ACACATCCCACACCACACACACACACATCCCACACCACACACATCCACAC CACACACACACACATCCCACACCAGACACACACATCCCACACACACACAC ACATCCCACATCACACACACAATCACAAACACACATCCCACACCACACAC ACATCCCACACCACACACACACATCCCACACACACACACACCCACCACAC ACACACACACATCCCACACCACACACACAATCCCACACCACACACACACA CAATCCCACACCACACACACACATCCCATACCACACACACATCCCACGCC ACACACACACACACACCCCACACCACACACACATCCCACACCACACACAT CCACACCACACACACACATCCCACACCACACATACACACACACATCCCAT ACCACACACATCCCACAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0034 a0004c0034	a0004c0034t0001 a0004c0034t0001	a0004c0034t0001g0262 a0004c0034t0001g0262	1	323	0.0031	817	c.318 others(836): Show c.3187-1164_3187-1163insGCACACCCCACACCACACACGCACAT CCCACACCACACACACACACATCCCACACCACACACACATCCCACACCAC ACACACACACACACATCCCACACCACACACACACTTCCCACACCACACAC ACACACACTTCCCACACCACACACACACAAATCCCACACCAGACACACAC ACATCCCACACCACACACACACACCACACACACCACACCACAGACACACA CATCCCACACCACACACCCCCCACACACACACATCCCACACCACACACAG ACATCCCACACCACACACACATCCCACACCACACACACACACATCCCGCA CCACACACTCACACATCCCACACCACACATACACATCCCACACCACACAC ACATACCACACCACACACACACACATCCCACACCACACACACACACATCC CACACCACACACATCCACACCACACACACACACATCCCACACCAGACACA CACATCCCACACACACACACACATCCCACATCACACACACAATCACAAAC ACACATCCCACACCACACACACATCCCACACCACACACACACATCCCACA CACACACACACCCACCACACACACACACACATCCCACACCACACACACAA TCCCACACCACACACACACACAATCCCACACCACACACACACATCCCATA CCACACACACATCCCACGCCACACACACACACACACCCCACACCACACAC ACATCCCACACCACACACATCCACACCACACACACACATCCCACACCACA CATACACACACACATCCCATACCACACACATCCCACACCAC	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGAP39_chr8_144524179_144690846	144557348	G G	GTAGTATT others(810): Show GTAGTATTCAGAGGCAAAGCCTGAACCTTCGTAGTATTCAGAGGCAAAAG CCTGAACCTTCGTAGTATTCAGAGGCAAAGGCTGAACCTTCATAGTATTC AGAGGCAAAGGCTGAACCTTCGTAGTATTCAGTGGCAAAAGGCTGAACCT TCGTAGTATTCAGAGGCAAAGGCTGAACCTTCGTAGTATTCAGAGGCAAA GCCTGAACCTTCGTAGTATTCAGAGGCAAAAGCCTGAACCTTCATAGTAT TCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAACC TTCGTAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAGTATTCAGAGGCA AAGCCTGAACCTTCGTAGTATTCAGAGGCAAAGGCTGAACCTTCATAGTA TTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGAGGCAAAGGCTGAAC CTTCATAGTATTCAGATGCAAAAGCCTGAACCTTCATAGTATTCAGAGGC AAAGGCTGAACCTTCATAGTATTCAGTGGCAAAAGGCTGAACCTTCGTAG TATTCAGAGGCAAAGGCTGAACCTTCGTAGTATTCAGAGGCAAAGCCTGA ACCTTCATAGTATTCAGAGGCAAAGGCTGAACCTTCATAGTATTCAGTGG CAAAAGGCTGAACCTTCGTAGTATTCAGAGGCAAAGGCTGAACCTTCGTA GTATTCAGAGGCAAAGCCTGAACCTTCATAGTATTCAGAGGCAAAGGCTG AACCTTCATAGTATTCAGAGGCAAAGCCTGAACCTTCATAGTATTCAGAG GCAAAGCCTGAACCTTCA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0194 a0004c0013t0002g0194	1	192	0.0052	817	c.513 others(834): Show c.513-1706_513-1705insTGAAGGTTCAGGCTTTGCCTCTGAATAC TATGAAGGTTCAGGCTTTGCCTCTGAATACTATGAAGGTTCAGCCTTTGC CTCTGAATACTATGAAGGTTCAGGCTTTGCCTCTGAATACTACGAAGGTT CAGCCTTTGCCTCTGAATACTACGAAGGTTCAGCCTTTTGCCACTGAATA CTATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAGGTTCAGGCTTTG CCTCTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAATACTACGAAGGT TCAGCCTTTTGCCACTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAAT ACTATGAAGGTTCAGGCTTTTGCATCTGAATACTATGAAGGTTCAGCCTT TGCCTCTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAAG GTTCAGCCTTTGCCTCTGAATACTACGAAGGTTCAGGCTTTGCCTCTGAA TACTACGAAGGTTCAGCCTTTTGCCACTGAATACTACGAAGGTTCAGCCT TTGCCTCTGAATACTATGAAGGTTCAGCCTTTGCCTCTGAATACTATGAA GGTTCAGGCTTTTGCCTCTGAATACTACGAAGGTTCAGGCTTTGCCTCTG AATACTACGAAGGTTCAGCCTTTGCCTCTGAATACTACGAAGGTTCAGCC TTTTGCCACTGAATACTACGAAGGTTCAGCCTTTGCCTCTGAATACTATG AAGGTTCAGCCTTTGCCTCTGAATACTACGAAGGTTCAGGCTTTTGCCTC TGAATACTACGAAGGTTCAGGCTTTGCCTCTGAATACTA	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	3/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687797	C C	CGTGACCA others(810): Show CGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTG GCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCC CACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACT CATTTACAGCGAGCACTTCCCACCCCCGTGACCACACACCAGCAGTGAGC ACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGT GACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGC GGTGAGCACTTCCCACCCCCGTGACCACGCACTGGCGGCGAGCACTTCCC ACCCCCGTGACCACACACCAGCAGTGAGCACTTCCCACCCCGTGACCACA CACTAGCAGTGAGCACTTCCCACCCCGTGACCACACACTAGCAGTGAGCA CTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTG ACCACGCACTGGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAG CGAGCACTTCCCACCCCCGTGACCACACACCAGCAGTGAGCACTTCCCAC CCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACA CTGGCGGCGACCATTTCCCACCCCCGTGACCACGCACTGGCGGCGACCAT TTCCCACCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTG ACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACATTTACAG TGAGCACTTCCCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	209	0.0048	817	c.-21 others(828): Show c.-2194_-2193insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTG CGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTGTGTGGTCACGGGGT GGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACT GCTGGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCACGGGGGTGGGAAGT GCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGT GTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGTGG GAAGTGCTCACTGCTGGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGC CAGTGCGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCAC GGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGC TCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACTGCTGGTGTG TGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGG GAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCC AGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGG GGTGGGAAGTGCTCACCGCCAGTGTGTGGTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1952		chr8	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(810): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGTGGGAGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTG GCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGAC CCCTCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCCCCACCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	2	0.5000	817	c.-14 others(832): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGGCTGACACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCT CCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCTGG CCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCGCGGCTGG CCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGGC CAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(810): Show GGGCGGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGC CGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCC CCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGG GCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCCGGGTGGGAGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGT GGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGA CCCCTCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCCCACCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	2	0.5000	817	c.-14 others(832): Show c.-14-841_-14-840insCGGGGGGGGCTGACCCCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGGCTGACACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGGCCGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCACC TCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCATC TCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGCACGGCT GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTG GCCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGG CCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
B4GALNT3_chr12_454939_568509	511307	A A	ACCTTCTT others(810): Show ACCTTCTTCCACCTTCGAGCTTCCACCTTCCGCCTTCTGCCTTCCACCTT CCACCTTCCTTCCACCTTCCACCTTCAACCTTCCGCCTTCCGCCTTCCAC CTTCTGTCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCCACCTTC TTCCACCTTCCACCTTCCACCTTCTTCCACCTTCTTCCACCTTCCACCTT CCACCTTCCACCTTCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTC CACCTTCCGCCTTCGACCTTCTTCCACCTTCCACCTTCCGCCTTCCACCT TCGACCTTCTTCCACCTTCGACCTTCCACCTTCCACCTTCTTCCACCTTC GAGCTTCCACCTTCCGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCC TTCCACCTTCCGCCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCT TCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTC CACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCA CCTTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTC CACCTTCCACCTTCTACCTTCCTTCCACCTTCCACCTTCCACCTTCCACC TTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCACCT TCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTC CACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCA CCTTCCACCTTCTACCTT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0260 a0001c0001t0012g0260	1	380	0.0026	817	c.170 others(836): Show c.170-23854_170-23853insTTCCACCTTCGAGCTTCCACCTTCCG CCTTCTGCCTTCCACCTTCCACCTTCCTTCCACCTTCCACCTTCAACCTT CCGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCAC CTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCT TCTTCCACCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTC TACCTTCCTTCCACCTTCCACCTTCCGCCTTCGACCTTCTTCCACCTTCC ACCTTCCGCCTTCCACCTTCGACCTTCTTCCACCTTCGACCTTCCACCTT CCACCTTCTTCCACCTTCGAGCTTCCACCTTCCGCCTTCCGCCTTCCACC TTCTGTCTTCCACCTTCCTTCCACCTTCCGCCTTCCACCTTCCTTCCACC TTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTT CCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCC ACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTT CCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTC CACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCT TCCTTCCACCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTT CCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCC ACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(810): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGAAGGG GCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAAT AAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTA TAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTT AACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGT GAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGA AGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATCCTAGAGGC AGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGT GAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTC ATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACG TTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCT ATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGC TCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0013 a0004c0006t0013	a0004c0006t0013g0312 a0004c0006t0013g0312	1	38	0.0263	817	c.248 others(834): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCA AAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCG TTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAA ATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGG AAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGA CAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAA ATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGT GGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAG TTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAG AAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGAT ATATATGTATGCTATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATATATATATATT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGA GATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP61_chr20_20047532_20365698	20357451	A A	ACTGAGGG others(810): Show ACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACA GTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGA GATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTG GTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTCACACT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAG GTAGTCACACTGAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACAC TGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAG TGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACT GAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTG AGGGGAGGTGGTCATACT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02922.hp2 HG02109.hp2 HG02922.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0003 a0007c0010t0003 a0001c0001t0003 a0007c0010t0003	a0001c0001t0003g0092 a0007c0010t0003g0133 a0001c0001t0003g0092 a0007c0010t0003g0133	2	176	0.0114	817	c.351 others(836): Show c.3514-2759_3514-2758insCTGAGGGGAGGTGGTCACAGTGTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGT CACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCA CAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAT AGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGAGGA GGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCA CACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCAT ACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAG GAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATA CTGTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCAC ACTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCATACT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357810	T T	TACTGAGG others(810): Show TACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGAGA GGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGA GGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCATA GTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAG TGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAG GTGGTCATAGTGTGCGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGA GGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGCGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	24	0.0417	817	c.351 others(836): Show c.3514-2359_3514-2358insCTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA CACTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAT AGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGG GGAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTC ACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCA CAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAT AGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGCGGG GAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAG AGGTGGTCATAGTGTGCGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(810): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCC CTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCC CTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCC CCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCT CCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTC CTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCT CCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCC TCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0103 a0001c0003t0103	a0001c0003t0103g0119 a0001c0003t0103g0119	1	2	0.5000	817	c.162 others(838): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCCCCCTTCCTCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCT TCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCC CTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCT CCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCT TCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTC CTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL21A1_chr6_56051590_56252580	56098126	T T	TATATAAA others(810): Show TATATAAATATATATAAATATATATAAATATAAAAATATATATAAATATA TAAATATATATAAATATATATGTAAATATATAAATATATATAAATATATA TGTAAATATATAAATATATATAAATAAATATATATAAATATATATAAATA TAAATATATATATAAATATGTAATTCTAAATATATATGTAAATATATATA AATATAAATATATTTATAAATATATAAATATATATATATTTATATATATA TAAATATATATATATTTATAAATATATAAATATATATATATTTATAAATA TATAAATATATATAAAAATATATATAAATATATAAAAAATATAAATATAT ATAAATATATAAATATATGTAAATATATATAAATATATATATAAATATAT ATATAAATATATATATAAATATATATATAAATATATATATATAAATATAT ATAAATATATAACTATATAAATAAATATATATAAATATATAAATATATAA AAATATATATAAATATATATGTAAATATATAAATATATATAAATATATAT AAATATATATAAGTATATAAATATATATAAATATATATAAGTATATAAAT ATATATATAAATATATATAAGTATATAAATATATATATAAATATATATAA GTATATAAATATATATAAATATATATAAGTATATAAATATATATATAAAT ATATATAAGTATATATAAATATATATAAATATATATAAGTATATATAAAT ATATAAAAATATATATAAGTATATATAAATATATATAAATATATATAAAT ATATGCAAATATATATAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	242	0.0041	817	c.181 others(836): Show c.1812+3345_1812+3346insTTATATATATTTGCATATATTTATAT ATATTTATATATATTTATATATACTTATATATATTTTTATATATTTATAT ATACTTATATATATTTATATATATTTATATATACTTATATATATTTATAT ATATATTTATATACTTATATATATTTATATATATTTATATACTTATATAT ATTTATATATATATTTATATACTTATATATATTTATATATATATTTATAT ACTTATATATATTTATATATATTTATATACTTATATATATTTATATATAT TTATATATATTTATATATTTACATATATATTTATATATATTTTTATATAT TTATATATTTATATATATTTATTTATATAGTTATATATTTATATATATTT ATATATATATATTTATATATATATTTATATATATATTTATATATATATTT ATATATATATTTATATATATTTACATATATTTATATATTTATATATATTT ATATTTTTTATATATTTATATATATTTTTATATATATTTATATATTTATA AATATATATATATTTATATATTTATAAATATATATATATTTATATATATA TAAATATATATATATTTATATATTTATAAATATATTTATATTTATATATA TTTACATATATATTTAGAATTACATATTTATATATATATTTATATTTATA TATATTTATATATATTTATTTATATATATTTATATATTTACATATATATT TATATATATTTATATATTTACATATATATTTATATATATTTATATATTTA TATATATTTTTATATTTATATATATTTATATATATTTATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(810): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCA CCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCC ATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCT GTCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATCCATC CATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCAT CCATCCATCCACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCA TCCATCCGTCCATCCACCATCCATTCACCCATCCATCCATTCCTCCATCC ATCCACCATCCATCCATTAATTCATCCATCCATCCATCCATCCATTCATC CATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCC ATTCATACATCCATCATCCTCCCATTCATCCATCCATCCACCATCCATCC ATTCATTCATCCATCCATCCATCCATCCATCCATCCACCATCCATCCACC CATCCATCCACCATCCATCCATCCAGCATCCATCCATCCATCTATTCATC CATCCATCCATCCATCCGTCCATCCATCCATCCATCCTCCATCCATCCAT CCATCCATCAACCATCCATCCATGCATCCATTCATCCATCCACCATCCAT CCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp1 HG02055.hp2 others(3): Show HG00735.hp2 HG01081.hp1 HG02055.hp2 HG03130.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0019 others(2): Show a0001c0001 a0001c0006 a0001c0019 a0001c0047 a0001c0050	a0001c0001t0001 a0001c0001t0007 a0001c0006t0010 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0006t0010 a0001c0019t0001 a0001c0047t0003 a0001c0050t0004	a0001c0001t0001g0033 a0001c0001t0007g0215 a0001c0006t0010g0031 others(3): Show a0001c0001t0001g0033 a0001c0001t0007g0215 a0001c0006t0010g0031 a0001c0019t0001g0214 a0001c0047t0003g0032 a0001c0050t0004g0034	6	8	0.7500	817	c.110 others(834): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATC CATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATC CATCCATCTGTCCATCCATCCATCCATCCATCCATCCACCATCCATTCAC CCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCA TCCATCCATCCATCCATCCACCATCCATCCATTCATCCATCCATCTGTCC ATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCATCCATCCATT CCTCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCCAT CCATTCATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCAC CATCCATCCATTCATACATCCATCATCCTCCCATTCATCCATCCATCCAC CATCCATCCATTCATTCATCCATCCATCCATCCATCCATCCATCCACCAT CCATCCACCCATCCATCCACCATCCATCCATCCAGCATCCATCCATCCAT CTATTCATCCATCCATCCATCCATCCGTCCATCCATCCATCCATCCTCCA TCCATCCATCCATCCATCAACCATCCATCCATGCATCCATTCATCCATCC ACCATCCATCCACCATCCATCCACCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(810): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGC TGGGCTCCGGCGGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGG GCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGC TCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTC CGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCG GCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGC GGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGG GGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTG GGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGG GAGGGTCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGG GGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0129 a0001c0004t0002g0129	1	220	0.0045	817	c.630 others(832): Show c.630+156_630+157insGGGGAGGGGCTGGGCTCCGGCGGGGGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGC TGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTG GGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGGGAGGGGCTGG GCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGC TCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTC CGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCG GCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGC GGTGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGG GGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGG GGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGG GAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGTCTGGGCTCCGGCGGGGGGGAGG GGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCT GGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
CRTC3_chr15_90524923_90650345	90647402	C C	CCCTCCTC others(810): Show CCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTC CTCACCCCTCCTCCTCTGCCACACCCCTACTCCTCCTCACCCATCCTCCT CCACACCCCTTCTAGTCCACCACTCCCCCCTCCTCCTCCACACCCCTCCT CCTCCTCCACACTCTTACCCCTCCACACCCCTCCTCTTCCACCAGACCCC TCCTCCACACCCCTCCCCCCACCTCACTTCTCCCCCTTCACACACCTCCT CAACCTTCACATCCCTCCCCCTCCACATCCCTTCCCCCTCCTCACCCCTC TCCCCTCATCACCTCTCCTCCTCCTCCACACCCCTCCTCCTCCACACCCA TCATCCTCCACGCCCCTTCTCCTCACTCCTCCTCCTCCTGCACACCCCTT CTCCTCCTCACCCTTTGTCCTACTCCACACCACTCCTCTGCCTCACCTCT TCTCTTCACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACTCTCCTCC TCCACACTCCTCCTCACCCCGTCCTCCTCCAAACCCTTCCCCCTCCTCTT GGTTCCTCCTCCACACCCCTCCTCCTCCACACCCCTCCTCTGCCTCATGC CTCTTCCTCACCCCTCCTCCTCCACACCCCTCATCCTCCTCCACACCCCT CCTCCGCCTCACCCCTCCTCCGCCTCACCCCTCCTCCTCACCCCTTCTCC TCTCCACATCCCTCCTGCTCCACATCCCTCCCCCTCCATCCCCTCCACAC CCCTCCCCCTCCTCACCCCGTCTCCTCCTCCACACCCCTCCTCCTCCATA CCCCTCCTCCACCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0084 a0004c0005t0001g0084	1	69	0.0145	817	c.52 others(828): Show c.5262_*5263insCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCC TCCACAATCCTCCTCCTCACCCCTCCTCCTCTGCCACACCCCTACTCCTC CTCACCCATCCTCCTCCACACCCCTTCTAGTCCACCACTCCCCCCTCCTC CTCCACACCCCTCCTCCTCCTCCACACTCTTACCCCTCCACACCCCTCCT CTTCCACCAGACCCCTCCTCCACACCCCTCCCCCCACCTCACTTCTCCCC CTTCACACACCTCCTCAACCTTCACATCCCTCCCCCTCCACATCCCTTCC CCCTCCTCACCCCTCTCCCCTCATCACCTCTCCTCCTCCTCCACACCCCT CCTCCTCCACACCCATCATCCTCCACGCCCCTTCTCCTCACTCCTCCTCC TCCTGCACACCCCTTCTCCTCCTCACCCTTTGTCCTACTCCACACCACTC CTCTGCCTCACCTCTTCTCTTCACCCCTTCTCCTCCTCCATACCCCTCCT TCTCAACTCTCCTCCTCCACACTCCTCCTCACCCCGTCCTCCTCCAAACC CTTCCCCCTCCTCTTGGTTCCTCCTCCACACCCCTCCTCCTCCACACCCC TCCTCTGCCTCATGCCTCTTCCTCACCCCTCCTCCTCCACACCCCTCATC CTCCTCCACACCCCTCCTCCGCCTCACCCCTCCTCCGCCTCACCCCTCCT CCTCACCCCTTCTCCTCTCCACATCCCTCCTGCTCCACATCCCTCCCCCT CCATCCCCTCCACACCCCTCCCCCTCCTCACCCCGTCTCCTCCTCCACAC CCCTCCTCCTCCATACCCCTCCTCCACCTCACA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2058		chr15	TogoVar
DPEP1_chr16_89608642_89643433	89619208	C C	CCCCCTGC others(810): Show CCCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGT AGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCT CCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCT GCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCC GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTC CATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCC GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCC TCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCC CCGCTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	219	0.0046	817	c.-10 others(836): Show c.-107+5493_-107+5494insTGCCCCCCCGCTCCCCTCCCTGTAGC CCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCC CTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGTAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCT CCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCC TGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619366	C C	CCCCCCCG others(810): Show CCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCC TGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC GCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTC CCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCT CCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCA GCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0230 a0001c0001t0001g0231	2	238	0.0084	817	c.-10 others(836): Show c.-107+5653_-107+5654insGCTCCCCTCCCTGCAGCTCCCTGCCC CCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGC CCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCT GCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCC CTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTC CCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCT CCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EHMT1_chr9_137614005_137841127	137716360	T T	TGTGTTGG others(810): Show TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGG GAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCAT GGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGT GGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGT GGGGGGGAGGAAGTTGTG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0011 a0001c0005t0001g0012	2	128	0.0156	817	c.86- others(830): Show c.86-263_86-262insTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGG TGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAG GAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGG TGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EML5_chr14_88607431_88797953	88796212	A A	ATATATAT others(810): Show ATATATATATTATATGTTATATATATTATATATATTATATATATATTATA TGTTATATATATTATATATATATTATATGTTATATATATTATATATATAT TATATGTTATATATATTATATATATATTATATGTTATATATTTTATATAT ATATTATATGTTATATATATTATATATATATTATATGTTATATATTTTAT ATATATATTATATGTTATATATATTATATATATTTTATATATATATTATG TTTATATATTATATATATTATATATATTATATGTTATATATATTATATAT ATTATATATCTTATATGTTATATATATTATATATATATTATGTTATATAT ATTATATATATTATGTTATATATAATATATATTATATGTTATATATGTTA TACATATTATATGTTATATGTTATATATATTATATATGTTATATGTTATA TATTATATATATTATGTATATTATATGTTATATATATTATATATATTATG TATATTATATGTTTTATATATTATATATTATATATATTATATGTTTTATA TATTATATATTATATATATTATATGTTATATATATTATATATTATATACA TTATATGTTATATATATTATATATTATATACATTATATGTTATATATATT ATATATTATATATATTATATGTTATATATATTATATATTATATATATTAT ATGTTATATATATTATATATTATATATATTATATGTTATATATATTATAT ATTATATATATTATATGTTATATATATTATATATTATATATATTATATGT TATATATATTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0042 a0001c0001t0009g0042	1	249	0.0040	817	c.-37 others(828): Show c.-3710_-3709insATATATATAATATATATAACATATAATATATATA ATATATAATATATATAACATATAATATATATAATATATAATATATATAAC ATATAATATATATAATATATAATATATATAACATATAATATATATAATAT ATAATATATATAACATATAATATATATAATATATAATATATATAACATAT AATGTATATAATATATAATATATATAACATATAATGTATATAATATATAA TATATATAACATATAATATATATAATATATAATATATAAAACATATAATA TATATAATATATAATATATAAAACATATAATATACATAATATATATAATA TATATAACATATAATATACATAATATATATAATATATAACATATAACATA TATAATATATATAACATATAACATATAATATGTATAACATATATAACATA TAATATATATTATATATAACATAATATATATAATATATATAACATAATAT ATATATAATATATATAACATATAAGATATATAATATATATAATATATATA ACATATAATATATATAATATATATAATATATAAACATAATATATATATAA AATATATATAATATATATAACATATAATATATATATAAAATATATAACAT ATAATATATATATAATATATATAACATATAATATATATATAAAATATATA ACATATAATATATATATAATATATATAACATATAATATATATATAATATA TATAACATATAATATATATATAATATATATAACATATAATATATATATAA TATATATAATATATATAACATATAATATATATA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3260		chr14	TogoVar
EXPH5_chr11_108500435_108598768	108586449	T T	TCCCCTTT others(810): Show TCCCCTTTCCTCCCTCCCCCACCCCCCTTTCCTCCCTCCCCCACCCCCTT TCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCACCCCCTTTCCTCCCT CCCCCATCCCCTTTCCTCCCTCCCCCACCCCCTTTCCTCCCTCCCCCATC CCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCC TCCCTCCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCC CCATCCCCTTTCCTCCCTCCCCCATCCTCTTTCCTCCCTCCCCCATCCCC TTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCC CTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCA CCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTT CCTCCCTCCCCCACCCCCTTTCCTCCCTCCCCATCCTCTTTCCTCCCTCC CCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCC CTTTCCTCCCTCCCCCACCCCCTTTCCTCCCTCCCCATCCTCTTTCCTCC CTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCA TCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTT CCTCCCTCCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTC CCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCATCCT CTTTCCTCCCTCCCCCAC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0039 a0002c0002t0039	a0002c0002t0039g0025 a0002c0002t0039g0025	1	309	0.0032	817	c.119 others(834): Show c.119+6968_119+6969insGTGGGGGAGGGAGGAAAGAGGATGGGGA GGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAA AGGGGATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGGATG GGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGG AGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGA GGATGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGGATGGGGG AGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGA AAGAGGATGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGGATG GGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGG AGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGG GGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGG GAGGGAGGAAAGAGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGG AAAGGGGATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGGA TGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAG GGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAA GGGGGTGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGGTGG GGGAGGGAGGAAAGGGGGGTGGGGGAGGGAGGAAAGGGG	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
EXPH5_chr11_108500435_108598768	108586505	T T	TCCCCCAT others(810): Show TCCCCCATCCCCTTTCCTCCCTCCCCCACCCCCTTTCCTCCCTCCCCCAT CCCCTTTCCTCCCTCCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTC CTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCC CCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCC CTTTCCTCCCTCCCCCATCCTCTTTCCTCCCTCCCCCATCCCCTTTCCTC CCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCC ATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCACCCCCTT TCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCT CCCCCACCCCCTTTCCTCCCTCCCCATCCTCTTTCCTCCCTCCCCCATCC CCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCT CCCTCCCCCACCCCCTTTCCTCCCTCCCCATCCTCTTTCCTCCCTCCCCC ATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTT TCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCT CCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATC CCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCATCCTCTTTCCT CCCTCCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCC CACCCCCTTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp1 HG02647.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0026 a0002c0002t0013g0032 a0002c0002t0013g0026 a0002c0002t0013g0032	2	32	0.0625	817	c.119 others(834): Show c.119+6912_119+6913insGAGGGAGGAAAGGGGGTGGGGGAGGGAG GAAAGGGGATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGAGG ATGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAG GGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAA GGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGG GGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGA GGAAAGAGGATGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGG ATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGA GGGAGGAAAGAGGATGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAA GGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGGTGG GGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGA GGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGG GATGGGGGAGGGAGGAAAGAGGATGGGGGAGGGAGGAAAGGGGATGGGGG AGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGA AAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGAT GGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGGATGGGGGAGG GAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGGATGGGGG	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(810): Show TTCCCTCCCCTCTCCTCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTC CCCTCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCCTCCTCCTCTCCT CTCCCCTCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTATCC TCCCCTTCTCCTCCCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCCTC TCCTCTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTCCT CCCCTCCCCTTCTCCTGTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTTCT CTTCCCTTCCCCTCCCCTCCCCTTTTCCTCCCCTCCCTGCCCCTCCCCTC TCCTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCCCTCCC CTCCCCCTCTCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCTCTTCCCCTC CCTTTCCCACCCCTTCTCCTCCCCTCTTCCCCTCTTTTCCCTCCCCTCCT TTTTTCCTCCCTTCCCCTCCCCTCCCTTCCCTTCCCCTCCCCTTCTTCTC CCCTCCCCTTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCCTTTTC CTCTTCTTTTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTCTCCTC CCCTCCCCTCTGCCTCTCCTCCCCTCCCCTTTTTCTCCCCTCCCCTCCCT GCCTCTTCTCCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTCCCTCC CCTCCCCTCCCTTTCCTGCCCCTTCTCCTCACCTCTCTTCCCCTCCCCTC TCTTCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02976.hp2 NA20300.hp1 HG02683.hp2 HG02976.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0005 a0001c0001t0032 a0001c0015t0044 a0001c0001t0005 a0001c0001t0032 a0001c0015t0044	a0001c0001t0005g0087 a0001c0001t0032g0116 a0001c0015t0044g0128 a0001c0001t0005g0087 a0001c0001t0032g0116 a0001c0015t0044g0128	3	4	0.7500	817	c.123 others(838): Show c.1237-15754_1237-15753insTCCCCTCTCCTCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCTTCCTCTGCCCTCCCTTCC CCTCCCCCCTCCTCCTCTCCTCTCCCCTCTTTTCCTCCCCTCCCCTTCTC CTCCCATCCCTTCCCTTATCCTCCCCTTCTCCTCCCCTCACCTTCTCCTC TCCTCCCCTCCCCTTCTCCTCTCCTCTCCTCCCCTCCCCTTCTCCTCTCC TCCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTCCCCTCCC CTTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTTTCCT CCCCTCCCTGCCCCTCCCCTCTCCTCCCGTCTCCTCCCTTCCCCTCTCTT CCCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCGCCCCTC CCCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCCCTCTTC CCCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCTTCCCCTCCCCTCCCTTC CCTTCCCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCCC TCCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCTC CCCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCC TTTTTCTCCCCTCCCCTCCCTGCCTCTTCTCCTTTCCTCCCTTCCCCTCC CCTCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCCT CACCTCTCTTCCCCTCCCCTCTCTTCCCCTCTCCTTTCCTCCC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPIHBP1_chr8_143208218_143222170	143218336	C C	CAACACCA others(810): Show CAACACCACCCCCAACATCACCCCCACCACCCCCACACCACCCCCACACC ACCCCCAACACCATCCCCAACACCAGCCCCAACACCACCCCCAACACCAT CCCCAACACCAGCCCCAACACCACCCCCAACACCATCCCCAACACCAGCC CCAACACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAA CACCACCCCCAACACCACCCCAACACCATCCCCAACACCACCCCCAATAC CACCCCCACACCACCCCCATCGCCCCCACACCGCCCCAACACCACCCCCA ACACCACCCCCAACACCACCCCCAACATCACCCCCAACACCACCCCAATA CCTCCCCAACACCACCCCCAACACCACCCCAACACCATCCCCAACACCAC CCCCAATACCACCCCCACACCACCCCCATCGCCCCCACACCGCCCCAACA CCACCCCCAACACCACCCCCCACACCACCCCCAACACCACCCCCAACACC ACCGCCAACACCACCCCAACACCACCCCAACACCATCCCCAACACCACCC CAACACCATCCCCAACACCACCCCCCACACCACCCCCAACACCACCCCCA ACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACA TCACCCCCACCACCCCCACACCACCCCCACACCACCCCCAACACCATCCC CAACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACACCACCCCAA TACCTCCCCAACACCACCCCCAACACCACCCAACACCATGCCCCACACCA CCCCCAACACCACCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0004 a0001c0004t0004g0004	1	23	0.0435	817	c.28 others(828): Show c.2818_*2819insAACACCACCCCCAACATCACCCCCACCACCCCCA CACCACCCCCACACCACCCCCAACACCATCCCCAACACCAGCCCCAACAC CACCCCCAACACCATCCCCAACACCAGCCCCAACACCACCCCCAACACCA TCCCCAACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACACCACC CCAATACCTCCCCAACACCACCCCCAACACCACCCCAACACCATCCCCAA CACCACCCCCAATACCACCCCCACACCACCCCCATCGCCCCCACACCGCC CCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACATCACCCCC AACACCACCCCAATACCTCCCCAACACCACCCCCAACACCACCCCAACAC CATCCCCAACACCACCCCCAATACCACCCCCACACCACCCCCATCGCCCC CACACCGCCCCAACACCACCCCCAACACCACCCCCCACACCACCCCCAAC ACCACCCCCAACACCACCGCCAACACCACCCCAACACCACCCCAACACCA TCCCCAACACCACCCCAACACCATCCCCAACACCACCCCCCACACCACCC CCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCA ACACCACCCCCAACATCACCCCCACCACCCCCACACCACCCCCACACCAC CCCCAACACCATCCCCAACACCAGCCCCAACACCACCCCCAACACCAGCC CCAACACCACCCCAATACCTCCCCAACACCACCCCCAACACCACCCAACA CCATGCCCCACACCACCCCCAACACCACCCCCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1167		chr8	TogoVar

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