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
NR2F6_chr19_17226883_17250919	17249415	G G	GCTCCTGG others(590): Show GCTCCTGGCCTCAGGTGATCCTCCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTTAAGCCACTGCACCCGGCCTGTTTTTTATTGTTGTTGTC GTCGTTGTTTTTTGAGACGGAGTCTCGCTCTGTCGCGAGGCTGGAGTGCA GTGGCACAACCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCGAT TCTCCTGCCCCAGCCTCCCGAGTAGCTGGGATTACAGGCACGCACCACCA CGCCCAGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACCATGTTG GCCTCTATCTTCTGACCTCGTGATCTGCCCACCTTGGCCTCCCAAAATGC TGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCTGTTTTGTTTCTTTGA GACAAGGTATGTCACCCAAACTGGAGTGCCGTGGCTTGATCTCAGCTCAC TGCAACGTCTGCCTCCCAGGTTCAAGCAATTATCCTGCCTCAGCCTCCTG AGTAGCTGGGACTACAGGCACACACCACCACACCCAGCTAATTTTTGTAT TTTTAGTAGAGACGGGGGTTTTGCCATGTTGGCCAAGCTGGTCTCAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	391	0.0026	597	c.-41 others(608): Show c.-4196_-4195insTTTGAGACCAGCTTGGCCAACATGGCAAAACCCC CGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTG TAGTCCCAGCTACTCAGGAGGCTGAGGCAGGATAATTGCTTGAACCTGGG AGGCAGACGTTGCAGTGAGCTGAGATCAAGCCACGGCACTCCAGTTTGGG TGACATACCTTGTCTCAAAGAAACAAAACAGGGCCGGGCACGGTGGCTCA CACCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGT CAGAAGATAGAGGCCAACATGGTGAAACCCCATCTGTACTAAAAATACAA AAATTAGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTACTCGGGAG GCTGGGGCAGGAGAATCGCTTGAACCAGGGAGTCGGAGGTTGCAGTGAGC CGAGGTTGTGCCACTGCACTCCAGCCTCGCGACAGAGCGAGACTCCGTCT CAAAAAACAACGACGACAACAACAATAAAAAACAGGCCGGGTGCAGTGGC TTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGAGGATCAC CTGAGGCCAGGAG	NR2F6	ENSG00000160113.6	transcript	ENST00000291442.4	protein_coding		3497		chr19	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(590): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGA GAGGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGGGGA GGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGGATGGGGGAGGG AGAAGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGATG GGGGAGGGAGGGGGGAGGGGGATGGGGGAGGGGAGGGGGGGAGGGAGAGG GGGAGGGGGAGGGGGATGGGGGAGGGAGGAAGGGAGGGGGAGGGGGAGGA GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGG GGAGGGGAAGGGAGGGGAAGGGGAGGAAGAGGGAGGGGAGGAGGAAGGGG GAGGGGGGAGGGGGAGGGGAAAGGAGGGAGGAGGGGGAGGGGAAGGGGAG GGAGGGGAGGAGGGGGGAAGGGAGGGGAGGGAGGGGAAGGGGAGGGGGAG GGGAGGAGGGGGGAGGGAGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0242 a0001c0003t0002g0242	1	142	0.0070	597	c.154 others(614): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCTCCCTCCCCCCTCCTCCCCTCCCCCTCCCCTTCCCCTCCCTCCCCTCC CTTCCCCCCTCCTCCCCTCCCTCCCCTTCCCCTCCCCCTCCTCCCTCCTT TCCCCTCCCCCTCCCCCCTCCCCCTTCCTCCTCCCCTCCCTCTTCCTCCC CTTCCCCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCTCCTCCCCCTCCCCCTCCCTTCCTCCCTCC CCCATCCCCCTCCCCCTCCCCCTCTCCCTCCCCCCCTCCCCTCCCCCATC CCCCTCCCCCCTCCCTCCCCCATCCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCCATCCCCTCCCTTCTCCCTCCCCCATCCCCCTCCCTTCCCCCTCC CCTCCCCCTCCCCTCCCCCCTCCCCCATCCTCCTCCCTCCCCCTTCTCCG TCCTCCTTCCTCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCT CCCCCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
OR2T12_chr1_248285139_248308424	248306898	C C	CGCCCTGA others(590): Show CGCCCTGAGGACAGGAGCCGCCTGAGGACTGGAACCCCCTGAGGACTGGA GCCGCCCTGAGACAGAGCCGCCTGAGGACAGGAGCTGCCTGAGGACTGAG CCCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCGCCTGAGGACTGGA GCCGCCTGAGGACTGGAGCCCCCTGAGGACTGGAGCCGCCTGAGGACTGG AGACCCCCTGAGGACTGGAGCCCCCTGAGGACTGAGCCCCCTGAGACTGG AGCCGCCTGAGGACTGGAGCCGCCTGAGGACTGGATACCCCTGAGGACTG GAGCCCCCTGAGGACTGGAGCCGCCTGAGGACTGGATACCCCTGAGGACT GGGAGCCCCCTGAGGACTGGAGCCCCCTGAGGACTGGAGCCCCCTGAGGA CAGGAGCCGCCCTGAGGACTAGAGCCCCCTGAGGACTGGAGCCCCCCTGA GGACTGGAGCCGCCTGAGGACTGGAACCCCCTGAGCACTGGAGCCCCCTG AGGACTGGAGCCACCTGAGGGACTGGAGCCGCCTGAGGACTGGAGCCGCC TGAGGACTGGATACCCCTGAGGATTGGAGCCACCTGAGGACTGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0018 a0014c0015t0018	a0014c0015t0018g0118 a0014c0015t0018g0118	1	166	0.0060	597	c.-37 others(608): Show c.-3743_-3742insAGCTCCAGTCCTCAGGTGGCTCCAATCCTCAGGG GTATCCAGTCCTCAGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCCTCAG GTGGCTCCAGTCCTCAGGGGGCTCCAGTGCTCAGGGGGTTCCAGTCCTCA GGCGGCTCCAGTCCTCAGGGGGGCTCCAGTCCTCAGGGGGCTCTAGTCCT CAGGGCGGCTCCTGTCCTCAGGGGGCTCCAGTCCTCAGGGGGCTCCAGTC CTCAGGGGGCTCCCAGTCCTCAGGGGTATCCAGTCCTCAGGCGGCTCCAG TCCTCAGGGGGCTCCAGTCCTCAGGGGTATCCAGTCCTCAGGCGGCTCCA GTCCTCAGGCGGCTCCAGTCTCAGGGGGCTCAGTCCTCAGGGGGCTCCAG TCCTCAGGGGGTCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGGGGGCTCC AGTCCTCAGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGGGCGGCT CCAGTCCTCAGGGGCTCAGTCCTCAGGCAGCTCCTGTCCTCAGGCGGCTC TGTCTCAGGGCGGCTCCAGTCCTCAGGGGGTTCCAGTCCTCAGGCGGCTC CTGTCCTCAGGGC	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3475		chr1	TogoVar
PAK2_chr3_196734857_196837647	196811335	C C	CCCTCCCC others(590): Show CCCTCCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTT CCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC CTTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTTCCCTTCCTTCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTCCCTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTT CCTTCCTTCCCTTCCCTCCCTCCCTTCCCTTCCCTTCCCTCCCTTCCCTC CCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTC CTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	59	0.0169	597	c.773 others(612): Show c.773+685_773+686insCCCCTCCCTTCCCTCCCTCCCTTCCCTCCC TTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCT TCCTTCCCTCCCTTCCCTTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTT CCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCTTCCCTCC CTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTC CCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCC TTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTTCCC TTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCT TCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTC CCTTCCCTTCCCTTCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCNT_chr21_46319156_46450769	46413361	G G	GCGGGGAA others(590): Show GCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACAC GCAGCAGCAAGGTGTGGGGAGGGGGAAGGCGTGAGGCCCCCCTGGGAGAG GCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCA CCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGC GCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAG CGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCAGCAGCAAG GTGTGGGGAGGGGGAAGGCGTGAGGCCCCCCTGGGAGAGGCTGGACACGC GGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGG CTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCAC CCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCA CGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0017 a0005c0006t0001g0017	1	322	0.0031	597	c.615 others(614): Show c.6150+369_6150+370insCGGGGAAGGCGCGAGGTCCCCCCGGGAG AGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCC CACCCGGGAGAGGCTGGACACGCAGCAGCAAGGTGTGGGGAGGGGGAAGG CGTGAGGCCCCCCTGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGA GCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACAC GCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGA GGCTGGACACGCAGCAGCAAGGTGTGGGGAGGGGGAAGGCGTGAGGCCCC CCTGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGC ACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAG CGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAAG GTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACG CGGCAGCAAGGTGTGGGGA	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46			chr21	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(590): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACC TCCCGCCCTCACCCTGCACCTCCCCCCTCACCCTGCACCTCCCCCAATCC TTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCATC CTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCC CCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCAC CTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGC ACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCAC CCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGC CCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTG CCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCT CCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	91	0.0110	597	c.36 others(608): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCACCCTGCACCTCC CCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCTCACCCTG CACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCC TGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACT CACCCTCCACCTCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCC GCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATC TGCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCC ACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCC CCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCC CCCACCCTCCATCTGCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCC CCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGC ACCTCCCACCCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(590): Show GCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTC ACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCCCTATCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCG GCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	5	0.2000	597	c.15 others(608): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGT AGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGG GGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGATAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PHF2_chr9_93571584_93684587	93618897	G G	GTTTCCAT others(590): Show GTTTCCATGTGTGTGTTTGCATATGTGGTATGTGTGATGTGTGTGTGCAT GTGTCTGTTTTGTGTTTGCATGTGTGTTTTGTGTGTGTGCCTGGATGTGT GGTATGTGTGTGTGCCTGGAGGTGTGGTGTGTGTATGTGTACCTGTGTGT CTGTGTGTGTAATGTGTGTGGCTGCGTGTGTGGTGTTTGTGTGTCTGCGT GTGTGTGGTGTGTGTTGTGTGTTTGCCCGTGTGGTGGGTGTGTCTGTGTC TGCATGTGTGTGGTGTGTGTGTCTGTATGTATGTTGTATATTTCTGTGTG CATGTGTGGTGTGTTTCTGTCTGTGTGTGATGTGTGTGTGTCTGTGGGGT GTATGTGTCTGCGTGTGTATTTGTGTCTGCATATGTGTGGTGTGTTTGCG TGTTTGGGGTATGTGTGTCTGTGTGATGTGTATGTGTGTCTGCATGTGTG GTGTGTGTGCATGTTTGTGTCTGTGTGTAGTGTGTGTATCTCTGAATGTG TGTTGTGTCTGTGTGTGTATTGTGTGTTTGTGTGTGGCATGTGTCCGCAT GTGTGTTGTGTGTGTGTGTGTGGTGTGTCTGCATGTGTGTGGTGTGTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0057 a0001c0004t0005g0058 a0001c0004t0005g0057 a0001c0004t0005g0058	2	200	0.0100	597	c.99- others(614): Show c.99-11072_99-11071insTTCCATGTGTGTGTTTGCATATGTGGTA TGTGTGATGTGTGTGTGCATGTGTCTGTTTTGTGTTTGCATGTGTGTTTT GTGTGTGTGCCTGGATGTGTGGTATGTGTGTGTGCCTGGAGGTGTGGTGT GTGTATGTGTACCTGTGTGTCTGTGTGTGTAATGTGTGTGGCTGCGTGTG TGGTGTTTGTGTGTCTGCGTGTGTGTGGTGTGTGTTGTGTGTTTGCCCGT GTGGTGGGTGTGTCTGTGTCTGCATGTGTGTGGTGTGTGTGTCTGTATGT ATGTTGTATATTTCTGTGTGCATGTGTGGTGTGTTTCTGTCTGTGTGTGA TGTGTGTGTGTCTGTGGGGTGTATGTGTCTGCGTGTGTATTTGTGTCTGC ATATGTGTGGTGTGTTTGCGTGTTTGGGGTATGTGTGTCTGTGTGATGTG TATGTGTGTCTGCATGTGTGGTGTGTGTGCATGTTTGTGTCTGTGTGTAG TGTGTGTATCTCTGAATGTGTGTTGTGTCTGTGTGTGTATTGTGTGTTTG TGTGTGGCATGTGTCCGCATGTGTGTTGTGTGTGTGTGTGTGGTGTGTCT GCATGTGTGTGGTGTGTTT	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(590): Show TATATATAATTATATGTAATTATATATAATTATATAATTATTATATAATT GTATATAATATATAATTATATAATTATATATTATTTATTATATAATATAT AATTATATAATTATATATTATTTATTATATAATTATATATTATTTATTAT ATATATTATTTATTATATAATTATATAATTATATATTATTTATTATATAA TTATATATTATTTATTATATAATATATAATTATATATTATTTATTATATA ATATATAATTATATATTATTTATTATATAATTATATATTATGTATTATAT AATATATAATTATATATTATGTATTATATAATTATATAATTATATATTAT TTATTATATAATTATATAATTATATATTATTTATTACATAATTATATATT ATTTATTACATAAGTATATATTATTTATTACATAAGTATATATCACTTAT TATATAATTGTATATAATTATTTATTATATAATTGCATATAATTATTTAT TATATAATTGTATATAGTTATTTATTATATAATTCTATATAGTTATTTAT TATATAATTCTATATAATTATTTATTATCTAATTCTATATTATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0023 a0001c0002t0003g0023	1	25	0.0400	597	c.862 others(614): Show c.862+3417_862+3418insATATAATTATATGTAATTATATATAATT ATATAATTATTATATAATTGTATATAATATATAATTATATAATTATATAT TATTTATTATATAATATATAATTATATAATTATATATTATTTATTATATA ATTATATATTATTTATTATATATATTATTTATTATATAATTATATAATTA TATATTATTTATTATATAATTATATATTATTTATTATATAATATATAATT ATATATTATTTATTATATAATATATAATTATATATTATTTATTATATAAT TATATATTATGTATTATATAATATATAATTATATATTATGTATTATATAA TTATATAATTATATATTATTTATTATATAATTATATAATTATATATTATT TATTACATAATTATATATTATTTATTACATAAGTATATATTATTTATTAC ATAAGTATATATCACTTATTATATAATTGTATATAATTATTTATTATATA ATTGCATATAATTATTTATTATATAATTGTATATAGTTATTTATTATATA ATTCTATATAGTTATTTATTATATAATTCTATATAATTATTTATTATCTA ATTCTATATTATATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(590): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGT GAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGGGGTGATGGGGT GAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTG GGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGT GGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTGGGGTG TCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG01168.hp1 others(3): Show HG00140.hp1 HG00642.hp1 HG01168.hp1 HG01192.hp1 HG01361.hp2 HG01934.hp2	a0007 a0009 a0015 others(1): Show a0007 a0009 a0015 a0042	a0007c0008 a0009c0015 a0015c0014 others(1): Show a0007c0008 a0009c0015 a0015c0014 a0042c0050	a0007c0008t0004 a0009c0015t0013 a0015c0014t0016 others(1): Show a0007c0008t0004 a0009c0015t0013 a0015c0014t0016 a0042c0050t0016	a0007c0008t0004g0219 a0009c0015t0013g0193 a0009c0015t0013g0194 others(3): Show a0007c0008t0004g0219 a0009c0015t0013g0193 a0009c0015t0013g0194 a0015c0014t0016g0216 a0015c0014t0016g0217 a0042c0050t0016g0218	6	90	0.0667	597	c.261 others(614): Show c.261+1222_261+1223insAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGG TGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGG GGGTGAGCGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGG GGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTC TGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGT GAGTGGGGTGAGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGGTGAGTGGGGTGAGT GTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	217483	C C	CTGGGGCA others(590): Show CTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCT CGCTGAAATCAGGACCCCCAAGGCATTTCATTCCCATCTGGGGCAGTTAT TACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACTGGAATCAGGACCC CCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTCTTC TTCTGCACTAAAATTGGCCTCGCTGAAATTAGGACCCCCAAGGCATTTCA TTCCTGTTTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAATTGG CCTCACTGGAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGT TATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGAAATC AGGACCTCCAAGGCATTTCATTCCCATCTGGGGCAGTTATTACAGAGCCC TTCTTCTGCGCTAAAATTGGCCTCACTGAAATCAGGACCCCCAAGGCATT TCGTTCCCATCTGGGGCAGTTATTATGGAGCGCTTTCTTCTTCTGCACTA AAATTGGCCTCGCTGAAATCAGGACCCCCAAGGCATTTCATTCCTGTT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19005.hp2 NA18995.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0026 a0001c0001t0002 a0001c0004t0026	a0001c0001t0002g0029 a0001c0004t0026g0013 a0001c0001t0002g0029 a0001c0004t0026g0013	2	125	0.0160	597	c.728 others(614): Show c.728-1682_728-1681insAACAGGAATGAAATGCCTTGGGGGTCCT GATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGCGCTCCATAATA ACTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTTCAGTGAGG CCAATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCAGATGGGAA TGAAATGCCTTGGAGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAA GAAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGG GGGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTA ATAACTGCCCCAAACAGGAATGAAATGCCTTGGGGGTCCTAATTTCAGCG AGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAG ATGGGAACGAAATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAG CGCAGAAGAAGGGCTCTGTAATAACTGCCCCAGATGGGAATGAAATGCCT TGGGGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGG CTCCATAATAACTGCCCCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	305107	A A	AGAGGGGG others(590): Show AGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGG AGGGGGACAGGGCGGGAGGGGGACACAGCGGGAGGGGGACAGGGCGGGAG GGGCACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGG GACAGGGCGGGAGGGGACAGGGCAAGAGGGGGACAGGGCGAGAGGGGACA GGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGG GCGAGAGGGGGACAGGGCGGGAGGGGGACACGGCGAGAGGGGGACAGGGC GGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGG GAGGGGGACACGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGA GGGGGACAGGGCGGGAGGGGGACAGGGCGAGGGGACAGGGCGAGAGGGGG ACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGAC AGGGCGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGACAGGGCG GGAGGGGGACAGGGCGGGAGGGGAACAGGGCGGGAGGGGACAGGGCGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0072 a0001c0001t0006g0072	1	115	0.0087	597	c.351 others(616): Show c.351+14312_351+14313insCCGCCCTGTCCCCTCCCGCCCTGTTC CCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCC TCTCGCCCTGTCCCCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCG CCCTGTCCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCGCCCTG TCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCTCGCCGTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCC CCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCGTGTCCCCC TCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTC CCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTTG CCCTGTCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCT GTCCCCCTCTCGCCCTGTGCCCCTCCCGCCCTGTCCCCCTCCCGCTGTGT CCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCC CCCTCTCGCCCTGTCCCCCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SDCCAG8_chr1_243251041_243505091	243480604	A A	ATGGATGG others(590): Show ATGGATGGATGGATGGGTGGGATGGATGGGGGATGGATGGATGGGTGGGA TGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATGGATG GGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGAT GGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGATGGA TGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGA TGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGG TGGTATGGATGGATGGGTGGTATGGATGGATGGGTGTGATGGATGGATGG ATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATG GATGGATGGATGGATGGATGGATGGATGGGATGGATGAATGGGGGATGGA TGGATGGGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGAT GGATGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGAT GGATGGATGGATGGGTGGATGGATGGGTGGGATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	2	0.5000	597	c.198 others(616): Show c.1986-8391_1986-8390insGATGGATGGGGGATGGATGGATGGGT GGGATGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATG GATGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGAT GGATGGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGA TGGATGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGA TGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGA TGGGTGGTATGGATGGATGGGTGGTATGGATGGATGGGTGTGATGGATGG ATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGG GATGGATGGATGGATGGATGGATGGATGGATGGGATGGATGAATGGGGGA TGGATGGATGGGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTG GGATGGATGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTG GGATGGATGGATGGATGGGTGGATGGATGGGTGGGATGGATGGATGGATG GGTGGATGGATGGATGGGTGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243480604	A A	ATGGATGG others(590): Show ATGGATGGATGGATGGGTGGGATGGATGGGGGATGGATGGATGGGTGGGA TGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATGGATG GGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGAT GGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGATGGA TGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGA TGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGG TGGTATGGATGGATGGGTGGTATGGATGGATGGGTGTGATGGATGGATGG ATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATG GATGGATGGATGGATGGATGGATGGGATGGATGAATGGGGGATGGATGGA TGGGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGAT GGATGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGAT GGATGGATGGATGGGTGGATGGATGGGTGGGATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	2	0.5000	597	c.198 others(616): Show c.1986-8391_1986-8390insGATGGATGGGGGATGGATGGATGGGT GGGATGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATG GATGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGAT GGATGGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGA TGGATGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGA TGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGA TGGGTGGTATGGATGGATGGGTGGTATGGATGGATGGGTGTGATGGATGG ATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGG GATGGATGGATGGATGGATGGATGGATGGGATGGATGAATGGGGGATGGA TGGATGGGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGAT GGATGGATGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTG GGATGGATGGATGGATGGGTGGATGGATGGGTGGGATGGATGGATGGATG GGTGGATGGATGGATGGGTGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1098242	A A	AGGCCCCC others(590): Show AGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCT CACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTC TGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTTTAAC CCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGGCCCCCCT CTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCC CCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCATGCCCA GCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACA CCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTG CACGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCC TCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTA ACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCCC TCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACACCCAG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0004 a0002c0025t0004	a0002c0025t0004g0061 a0002c0025t0004g0061	1	69	0.0145	597	c.125 others(614): Show c.125-3995_125-3994insCTGGGTGTGCAGAGGGTTAGAGGGGGGC TGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGG GGCCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAG AGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGG TTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAG AGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCGT GCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGG GTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGG CTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAGAG GGGGGCTGGGTGTGCAGAGGGTTAAAGGGGGCCTGGGCATGCAGAGGGTT AGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAG GGTTAGAAGGGGGCTTGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGC AGAGGGTTAGAGGGGGGCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC66A2_chr18_79897420_79956653	79921698	T T	TGAGAGGT others(590): Show TGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGG GTCAGTGGGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGA GACGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAG GGAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGGTCAAGG TCAGTGAGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAG ACGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGGTCAAGGTC AGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGA CAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGG GAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGGTCAGGGT CAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGA CGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	212	0.0047	597	c.392 others(614): Show c.392-2299_392-2298insCCTCGGTTCCGTCTCTCCTCACTGACCT TGACCTCTCCCTCGGTTCCGTCTCTCCTCACTGACCTTGACCTCTCACTC GGTTCCATCTCTCCCCACTGACCCTGACCTCTCCCTCGGTTCCGTCTCTC CTCACTGACCTTGACCTCTCCCTCGGTTCCTGTCTCTCCTCACTGACCTT GACCTCTCCCTCGGTTCCTGTCTCTCCTCACTGACCTTGACCTCTCCCTC GGTTCCTGTCTCTCCTCACTGACCTTGACCTCTCCCTCGGTTCCGTCTCT CCTCACTGACCTTGACCTCTCCCTCGGTTCCGTCTCTCCTCACTGACCTT GACCTCTCCCTCGGTTCCGTCTCTCCTCACTGACCCTGACCTCTCCCTCG GTTCCGTCTCTCCTCACTGACCTTGACCTCTCCCTCGGTTCCGTCTCTCC TCACTGACCTTGACCTCTCCCTCGGTTCCTGTCTCTCCTCACTGACCTTG ACCTCTCCCTCGGTTCCGTCTCTCCTCACTGACCCTGACCTCTCCCTCGG TTCCGTCTCTCCCCACTGACCCTGACCTCTCCCTCGGTTCCTGTCTCTCC TCACTGACCTTGACCTCTC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(590): Show CATATTTTATATTATAATATATAATATATATTATATTTTATAATATATAA TATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATATTATAATATATAATATATA ATATATTATAATATATAATATATTATATATTATAATATATAATATATTAT ATATTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATAATATATAATATATTATATTTTATAATATATAATATATTATATTT TATAATATATAAAATATTATATTTTATAATATATAAAATATTATATTTTA TAATATATAAAATATATTATATTTTATAATATATAAAATATATTATATTT TATAATATATAATATATATTATATTTTATAATATATAATATATATTATAT TTTATAATATATAATATATATTATATTTTATAATATATAATATATATT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	7	0.1429	597	c.17 others(616): Show c.174+9760_*174+9761insAATATATATTATATATTATAAAATAT AATATATATTATATATTATAAAATATAATATATATTATATATTATAAAAT ATAATATATATTATATATTATAAAATATAATATATTTTATATATTATAAA ATATAATATATTTTATATATTATAAAATATAATATTTTATATATTATAAA ATATAATATTTTATATATTATAAAATATAATATATTATATATTATAAAAT ATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATAT AATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATATTATAATATATTATATATTATATATTATAATATATAATA TATTATATATTATAAAATATAATATATTATATATTATAAAATATAATATA TTATATATTATAAAATATAATATATTATATATTATAAAATATAATATATT ATATATTATAAAATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATATTATATATTATAAAATATAATATATATT ATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNX9_chr6_157818246_157950077	157827236	T T	TATATTAT others(590): Show TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATAGTTTATATA ATATATAAACATATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACATATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	299	0.0033	597	c.12+ others(612): Show c.12+3880_12+3881insGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CATATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAFA5_chr22_48484553_48756932	48620618	A A	ACCCACCA others(590): Show ACCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCTATCC ACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCT ACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCCCATCCTAT CCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCATC CATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCA TCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCC CATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCAT CCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATA CCCATCCTATCCACCCACCCACCATCCCCCATCGTATCCACCCACCCACC ATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp1 HG03130.hp1 HG02145.hp1 HG02630.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0036 a0001c0001t0001 a0001c0001t0014 a0001c0001t0036	a0001c0001t0001g0153 a0001c0001t0014g0052 a0001c0001t0036g0190 a0001c0001t0001g0153 a0001c0001t0014g0052 a0001c0001t0036g0190	3	255	0.0118	597	c.113 others(616): Show c.113-25935_113-25934insTATCCACCCACCCACCATCCACCATC CATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCA TCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCC CATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCAT CCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATA CCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACC ATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCC CACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCA CCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCCC CCCACCATCCCCCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCA CCCACCCACCATCCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(590): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCCCCCCACCCACCATCCCCCATCC TATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACCCACCAT CCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCA CCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTATCCACCCACCC ACCCACCATCCACCATCCTATCCACCCACCCATCATCCACTATCCATCCA CCACCCCCACACCCATCCTATCCACCCACCCATCATCCACCATCCACTCA CCCTCCATCCACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCC ATCCACCTACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCT GTCCACCCACCCATCATATCCATCCACCCACCTACCCATCCATCCTATCC ATCCACCCATCCACCCACCGTATCTATCCACCCACCCACACTGTCCATCC ACCCACCCACCCATCCACCCACCCACCTATCCTATTCATCCATCCACC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	28	0.0357	597	c.113 others(616): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCC CCCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCT ATCCACCCCCCCCACCCACCATCCCCCATCCTATCCACCCACCCACCATC CCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCA CATCCATCCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCA CCCATCATCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCA CCCATCATCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACC CGCCATCCACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATA CATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACC CACCTACCCATCCATCCTATCCATCCACCCATCCACCCACCGTATCTATC CACCCACCCACACTGTCCATCCACCCACCCACCCATCCACCCACCCACCT ATCCTATTCATCCATCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(590): Show CTCTCCCCTCCCCTCTCCCCCCCCTCCCCTCTCCTCTCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTC TCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCT CCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTC TCCCCTACCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCCCCTTCTCTGTCCTCCCCTCCTCTCTCTTCC CCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTC CTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTT CCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCT CATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTT CCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCC CCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02015.hp2 HG02135.hp1 others(4): Show HG01071.hp1 HG02015.hp2 HG02135.hp1 HG02165.hp2 HG02293.hp1 HG04228.hp1 NA18612.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0003c0009 others(2): Show a0001c0001 a0003c0006 a0003c0009 a0004c0003 a0004c0014	a0001c0001t0001 a0003c0006t0004 a0003c0009t0002 others(2): Show a0001c0001t0001 a0003c0006t0004 a0003c0009t0002 a0004c0003t0003 a0004c0014t0003	a0001c0001t0001g0086 a0003c0006t0004g0084 a0003c0009t0002g0071 others(4): Show a0001c0001t0001g0086 a0003c0006t0004g0084 a0003c0009t0002g0071 a0004c0003t0003g0004 a0004c0003t0003g0070 a0004c0003t0003g0072 a0004c0014t0003g0044	7	52	0.1346	597	c.-25 others(616): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCCCCCTCCCC TCTCCTCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCT CTCCCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCTCCCCTCTCCCCTACCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTG TCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCC TCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGC CCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCC CTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTC CCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCC CTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCC TCCCCCTCCCCCTCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TP73_chr1_3647516_3741201	3694474	A A	ATGCAGCC others(590): Show ATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCC CCTCCTCCTGCAATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATC CCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCT CAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCG CAATCCCAGCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCCAGCCATGC AGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCATCTTCAGCCCCTCC TCCCGCAATCCCAGCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCCAGC CATGCAGCCTCAGCCCCTCCTCCCGAAATCCCAGCCCTGCAGCCTCAGCC CCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATC CCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCC TCAGCCCCTCCTCCTGCAATCCCACCCATGCATCTTCAGCCCCTCCTCCC GCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01256.hp2 HG01515.hp2 HG01074.hp1 HG01256.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0270 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0002g0270 a0001c0001t0004g0341 a0001c0001t0004g0342	3	274	0.0109	597	c.186 others(616): Show c.186+11309_186+11310insCTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCACCCATGCATCTTCAGCCCCTCCTC CCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCC TGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCC TCCTCCCGCAATCCCAGCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCC AGCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCATCTTCA GCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCACCCCTCCTCCCGCA ATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGAAATCCCAGCCCTGCAG CCTCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTC CCGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCC ATGCAGCCTCAGCCCCTCCTCCTGCAATCCCACCCATGCATCTTCAGCCC CTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCC CAGCCCTGCAGCCTCAGCCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(590): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATAAA AATTATATATATTATATATATAAAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TAAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATATAAATTATATATATTATATATATATAAAAATTATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA19087.hp1 NA18964.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	2	145	0.0138	597	c.28 others(608): Show c.2888_*2889insTATATATATATTATATATATATAAAAATTATATA TATATTATATATAAAAATTATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATAAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATATAAATTATATATATTATATATATATA AAAATTATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIM67_chr1_231157058_231226565	231202070	G G	GGAGGAGG others(590): Show GGAGGAGGAGGGGGTAGTGGAGGAGGAGGACATAGTGGAGGAGGAGGAGG AGGTGGAAGAGGAGGAGGTGGTGGCTGAGATAATGGAGGAGGAGGAGGAA GTGGTGGCAGAGGAGGAGGAGGTAGAGGAGGTAGTCATGGAGGAGGAGAT GGAGGAGGAGGAGGAGGTGGAAAAGGAGGAGGTGGTGGCTGAGATAATGG AGGAGGAGGAGGAGATGGAGGAGGAGGAGGAAGAGGTAGCGGAGAAGGAG GAGGTAGTGGAGGAGGAGGAGGAGGTGGAAGAGGAGGAAGTGGTGGCTGA GATAGTGGAGGAGAAGGAGGTAGTAGAGCAGGAGAAGGGGGTAATGGAGG AGGAGGACATAGTGGAGGAGGAGGAGGTGGAAGAGGAGGAGGTGGTGGCT GAGATAATGGAGGAGGAGGAGGAGGTAATGGTGGAGGAGGAGATGGAGGA GGAGGAAGAGGTAGCGGAGGAGGAGGTAGTGGAGGAGGAGGTGGAAGAGG AGGAGGTGGTGGCTGAGATAGTGGAGGAGAAGGAGGTAGTAGAGCAGGAG AAGGGGGTAATGGAGGAGGAGGACATAGTGGAGGAGGAGGAGGTGGAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG02129.hp2 others(7): Show HG00438.hp1 HG00642.hp1 HG02129.hp2 HG02630.hp1 HG02818.hp1 HG02922.hp1 NA18747.hp1 NA18945.hp1 NA19030.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0005 a0001c0001t0033 a0001c0002t0005 others(2): Show a0001c0001t0005 a0001c0001t0033 a0001c0002t0005 a0001c0002t0035 a0001c0009t0005	a0001c0001t0005g0213 a0001c0001t0033g0065 a0001c0002t0005g0038 others(7): Show a0001c0001t0005g0213 a0001c0001t0033g0065 a0001c0002t0005g0038 a0001c0002t0005g0136 a0001c0002t0005g0156 a0001c0002t0005g0256 a0001c0002t0005g0273 a0001c0002t0005g0297 a0001c0002t0035g0272 a0001c0009t0005g0022	10	235	0.0426	597	c.153 others(614): Show c.1534+563_1534+564insGGGTAGTGGAGGAGGAGGACATAGTGGA GGAGGAGGAGGAGGTGGAAGAGGAGGAGGTGGTGGCTGAGATAATGGAGG AGGAGGAGGAAGTGGTGGCAGAGGAGGAGGAGGTAGAGGAGGTAGTCATG GAGGAGGAGATGGAGGAGGAGGAGGAGGTGGAAAAGGAGGAGGTGGTGGC TGAGATAATGGAGGAGGAGGAGGAGATGGAGGAGGAGGAGGAAGAGGTAG CGGAGAAGGAGGAGGTAGTGGAGGAGGAGGAGGAGGTGGAAGAGGAGGAA GTGGTGGCTGAGATAGTGGAGGAGAAGGAGGTAGTAGAGCAGGAGAAGGG GGTAATGGAGGAGGAGGACATAGTGGAGGAGGAGGAGGTGGAAGAGGAGG AGGTGGTGGCTGAGATAATGGAGGAGGAGGAGGAGGTAATGGTGGAGGAG GAGATGGAGGAGGAGGAAGAGGTAGCGGAGGAGGAGGTAGTGGAGGAGGA GGTGGAAGAGGAGGAGGTGGTGGCTGAGATAGTGGAGGAGAAGGAGGTAG TAGAGCAGGAGAAGGGGGTAATGGAGGAGGAGGACATAGTGGAGGAGGAG GAGGTGGAAGAGGAGGAGG	TRIM67	ENSG00000119283.16	transcript	ENST00000366653.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIML1_chr4_188134441_188152743	188152094	G G	GTGAGAAG others(590): Show GTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGAT GAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGCTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGA AGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAG GGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGCTGAGAAGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAA GTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAG TGAGAGTGGGGGTGAGAAGGGGAGTGAGAGGGGTTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAG TGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTG GGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGG TTGAGAAGGGAGTGAGAGTGGGGGTGAGAAGGGGAGGGAGAGAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	200	0.0050	597	c.47 others(608): Show c.4722_*4723insTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGTGGGGATGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAG TGAGAGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTG AGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAG TGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTG GGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGA GGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGGGGTT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGA AGGGGAGTGAGAGTGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGAGGGGTTGAGAAGGGAGTGAGAGTGGGGGTGAGAAGGGGA GGGAGAGAGGGGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4352		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188152097	A A	AGAAGGGG others(590): Show AGAAGGGGAGTGAGAGTGGGGTGAGAAGGGGAGTGAGAGTGGGGATGAGA AGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGCTGAGAAG GGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGA GTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGCTGAGAAGGGGAGT GAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAAGTGA GAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGGGGTTGAGAAGGGGAGTGAGAGTG GGGGTGAGAAGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGG GTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGGGAGAGAGGGGTTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	217	0.0046	597	c.47 others(608): Show c.4725_*4726insGAAGGGGAGTGAGAGTGGGGTGAGAAGGGGAGTG AGAGTGGGGATGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAG AGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAG TGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTG GGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGG GCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGGGGTTGAGA AGGGGAGTGAGAGTGGGGGTGAGAAGGGAGTGAGAGAGGGGTTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAG TGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGGG AGAGAGGGGTTGG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4355		chr4	TogoVar
TWIST2_chr2_238843085_238915534	238909157	G G	GTGTAGTG others(590): Show GTGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTG TGTATGTGGGGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGGTGT GTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTTTG TGTATGTGGAGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTAT GTATGTAGTGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTATGT GGGGGTGGGGTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTAGTGT GGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTGTGTAT GTGGGGGTGGGGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGGTG TGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGCTGTGT GTGTGTATGTGGGGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGG TGTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGT GTGTATGTGGGGGTGGGGTGTGTTCGTGGGTGTGGTATGTGGTGTGTA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	3	0.3333	597	c.36 others(612): Show c.36-649_*36-648insTGTGGTGTGTGTGTGTATGTGGGGGTGTGG TGTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTG TGTGTAGTGTGTGGTATGTTTGGTGTGTGTTTGTGTATGTGGAGGTGTGG TGTGTTTGTGGTTGTGGTATGTGTATGTGGTATGTATGTAGTGGGTGTGT GTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTT GTGGGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGTG TGGTATGTTTGTGTGGTGTGTGTGTGTGTGTATGTGGGGGTGGGGGTGTG GTGTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGT GTGTGTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGTGTATGTGGGGGTG TGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGG GTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTGTATGTGGGGGTGGG GTGTGTTCGTGGGTGTGGTATGTGGTGTGTATGTAGTGTGGGGTGTGTGT AGTGTGTGGTATGTTTG	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238909157	G G	GTGTAGTG others(590): Show GTGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTG TGTATGTGGGGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGGTGT GTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTTTG TGTATGTGGAGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTGT GTATGTAGTGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTATGT GGGGGTGGGGTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTAGTGT GGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTGTGTAT GTGGGGGTGGGGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGGTG TGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGCTGTGT GTGTGTATGTGGGGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGG TGTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGT GTGTATGTGGGGGTGGGGTGTGTTCATGGGTGTGGTATGTGGTGTGTA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	3	0.3333	597	c.36 others(612): Show c.36-649_*36-648insTGTGGTGTGTGTGTGTATGTGGGGGTGTGG TGTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTG TGTGTAGTGTGTGGTATGTTTGGTGTGTGTTTGTGTATGTGGAGGTGTGG TGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGGGTGTGT GTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTT GTGGGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGTG TGGTATGTTTGTGTGGTGTGTGTGTGTGTGTATGTGGGGGTGGGGGTGTG GTGTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGT GTGTGTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGTGTATGTGGGGGTG TGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGG GTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTGTATGTGGGGGTGGG GTGTGTTCATGGGTGTGGTATGTGGTGTGTATGTAGTGTGGGGTGTGTGT AGTGTGTGGTATGTTTG	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238909157	G G	GTGTAGTG others(590): Show GTGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTG TGTATGTGGGGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGGTGT GTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTTTG TGTATGTGGAGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTGT GTATGTAGTGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTATGT GGGGGTGGGGTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTAGTGT GGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTGTGTAT GTGGGGGTGGGGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGGTG TGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGCTGTGT GTGTGTATGTGGGGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGG TGTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGT GTGTATGTGGGGGTGGGGTGTGTTCGTGGGTGTGGTATGTGGTGTGTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(74): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02293.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp2 HG03239.hp1 HG03654.hp2 HG03710.hp2 HG03942.hp1 HG03942.hp2 NA18522.hp1 NA18612.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18985.hp2 NA18994.hp1 NA18998.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA19091.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0018 others(73): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0165 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0293 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0317 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0334 a0001c0001t0002g0292 a0001c0001t0002g0325 a0001c0001t0002g0331 a0001c0001t0002g0332	77	79	0.9747	597	c.36 others(612): Show c.36-649_*36-648insTGTGGTGTGTGTGTGTATGTGGGGGTGTGG TGTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTG TGTGTAGTGTGTGGTATGTTTGGTGTGTGTTTGTGTATGTGGAGGTGTGG TGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGGGTGTGT GTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTT GTGGGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGTG TGGTATGTTTGTGTGGTGTGTGTGTGTGTGTATGTGGGGGTGGGGGTGTG GTGTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGT GTGTGTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGTGTATGTGGGGGTG TGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGG GTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTGTATGTGGGGGTGGG GTGTGTTCGTGGGTGTGGTATGTGGTGTGTATGTAGTGTGGGGTGTGTGT AGTGTGTGGTATGTTTG	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE2J2_chr1_1248912_1278854	1249037	G G	GCGAGGGA others(590): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGCAG CCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAG GCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTC CCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCG AGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCC CTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGC CGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCC ACTCCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACAGGCACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTC CCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0231 a0001c0001t0022g0231	1	83	0.0120	597	c.61 others(608): Show c.6165_*6166insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTC CAGCCTCCCAGGGCTGCCCGTGCCTGTCCCGGCCTGTAGGGCGGAGTGGG AGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCC TGTAGGGCGGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGG CTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCG GTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGA GGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGC CCAGCCTCCCTCG	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4874		chr1	TogoVar
USHBP1_chr19_17244171_17269745	17249415	G G	GCTCCTGG others(590): Show GCTCCTGGCCTCAGGTGATCCTCCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCATTAAGCCACTGCACCCGGCCTGTTTTTTATTGTTGTTGTC GTCGTTGTTTTTTGAGACGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCA GTGGCACAACCTCGGCTCGCTGCAACCTCCGACTCCCTGGTTCAAGCGAT TCTCCTGCCCCAGCCTCCCGAGTAGCTGGGATTACAGGCACGCACCACCA CGCCCAGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACCATGTTG GCCTCTATCTTCTGACCTCGTGATCTGCCCACCTTGGCCTCCCAAAATGC TGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCTGTTTTGTTTCTTTGA GACAAGGTATGTCACCCAAACTGGAGTGCCGTGGCTTGATCTCAGCTCAC TGCAACGTCTGCCTCCCAGGTTCAAGCAATTATCCTGCCTCAGCCTCCTG AGTAGCTGGGACTACAGGCACACACCACCACACCCAGCTAATTTTTGTAT TTTTAGTAGAGACGGGGGTTTTGCCATGTTGGCCAAGCTGGTCTCAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02922.hp1 others(1): Show HG01891.hp2 HG02258.hp2 HG02922.hp1 HG03209.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0007 a0003c0013t0007	a0003c0013t0007g0048 a0003c0013t0007g0198 a0003c0013t0007g0207 a0003c0013t0007g0048 a0003c0013t0007g0198 a0003c0013t0007g0207	4	392	0.0102	597	c.80 others(606): Show c.809_*810insTTTGAGACCAGCTTGGCCAACATGGCAAAACCCCCG TCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTA GTCCCAGCTACTCAGGAGGCTGAGGCAGGATAATTGCTTGAACCTGGGAG GCAGACGTTGCAGTGAGCTGAGATCAAGCCACGGCACTCCAGTTTGGGTG ACATACCTTGTCTCAAAGAAACAAAACAGGGCCGGGCACGGTGGCTCACA CCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCA GAAGATAGAGGCCAACATGGTGAAACCCCATCTGTACTAAAAATACAAAA ATTAGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTACTCGGGAGGC TGGGGCAGGAGAATCGCTTGAACCAGGGAGTCGGAGGTTGCAGCGAGCCG AGGTTGTGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTCA AAAAACAACGACGACAACAACAATAAAAAACAGGCCGGGTGCAGTGGCTT AATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGAGGATCACCT GAGGCCAGGAG	USHBP1	ENSG00000130307.12	transcript	ENST00000252597.8	protein_coding	13/13	809		chr19	TogoVar
USHBP1_chr19_17244171_17269745	17249415	G G	GCTCCTGG others(590): Show GCTCCTGGCCTCAGGTGATCCTCCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTTAAGCCACTGCACCCGGCCTGTTTTTTATTGTTGTTGTC GTCGTTGTTTTTTGAGACGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCA GTGGCACAACCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCGAT TCTCCTGCCCCAGCCTCCCGAGTAGCTGGGATTACAGGCACGCACCACCA CGCCCAGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACCATGTTG GCCTCTATCTTCTGACCTCGTGATCTGCCCACCTTGGCCTCCCAAAATGC TGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCTGTTTTGTTTCTTTGA GACAAGGTATGTCACCCAAACTGGAGTGCCGTGGCTTGATCTCAGCTCAC TGCAACGTCTGCCTCCCAGGTTCAAGCAATTATCCTGCCTCAGCCTCCTG AGTAGCTGGGACTACAGGCACACACCACCACACCCAGCTAATTTTTGTAT TTTTAGTAGAGACGGGGGTTTTGCCATGTTGGCCAAGCTGGTCTCAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG01884.hp2 HG02280.hp1 others(6): Show HG00735.hp1 HG01884.hp2 HG02280.hp1 HG02886.hp1 HG02922.hp2 HG03130.hp1 HG03225.hp2 HG03486.hp1 NA20129.hp2	a0003 a0006 a0003 a0006	a0003c0007 a0003c0014 a0006c0020 a0003c0007 a0003c0014 a0006c0020	a0003c0007t0004 a0003c0014t0004 a0006c0020t0004 a0003c0007t0004 a0003c0014t0004 a0006c0020t0004	a0003c0007t0004g0012 a0003c0007t0004g0082 a0003c0014t0004g0209 others(2): Show a0003c0007t0004g0012 a0003c0007t0004g0082 a0003c0014t0004g0209 a0003c0014t0004g0211 a0006c0020t0004g0050	9	397	0.0227	597	c.80 others(606): Show c.809_*810insTTTGAGACCAGCTTGGCCAACATGGCAAAACCCCCG TCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTA GTCCCAGCTACTCAGGAGGCTGAGGCAGGATAATTGCTTGAACCTGGGAG GCAGACGTTGCAGTGAGCTGAGATCAAGCCACGGCACTCCAGTTTGGGTG ACATACCTTGTCTCAAAGAAACAAAACAGGGCCGGGCACGGTGGCTCACA CCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCA GAAGATAGAGGCCAACATGGTGAAACCCCATCTGTACTAAAAATACAAAA ATTAGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTACTCGGGAGGC TGGGGCAGGAGAATCGCTTGAACCAGGGAGTCGGAGGTTGCAGTGAGCCG AGGTTGTGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTCA AAAAACAACGACGACAACAACAATAAAAAACAGGCCGGGTGCAGTGGCTT AACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGAGGATCACCT GAGGCCAGGAG	USHBP1	ENSG00000130307.12	transcript	ENST00000252597.8	protein_coding	13/13	809		chr19	TogoVar
USHBP1_chr19_17244171_17269745	17249415	G G	GCTCCTGG others(590): Show GCTCCTGGCCTCAGGTGATCCTCCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTTAAGCCACTGCACCCGGCCTGTTTTTTATTGTTGTTGTC GTCGTTGTTTTTTGAGACGGAGTCTCGCTCTGTCGCGAGGCTGGAGTGCA GTGGCACAACCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCGAT TCTCCTGCCCCAGCCTCCCGAGTAGCTGGGATTACAGGCACGCACCACCA CGCCCAGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACCATGTTG GCCTCTATCTTCTGACCTCGTGATCTGCCCACCTTGGCCTCCCAAAATGC TGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCTGTTTTGTTTCTTTGA GACAAGGTATGTCACCCAAACTGGAGTGCCGTGGCTTGATCTCAGCTCAC TGCAACGTCTGCCTCCCAGGTTCAAGCAATTATCCTGCCTCAGCCTCCTG AGTAGCTGGGACTACAGGCACACACCACCACACCCAGCTAATTTTTGTAT TTTTAGTAGAGACGGGGGTTTTGCCATGTTGGCCAAGCTGGTCTCAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0011 a0003c0016t0011	a0003c0016t0011g0215 a0003c0016t0011g0215	1	389	0.0026	597	c.80 others(606): Show c.809_*810insTTTGAGACCAGCTTGGCCAACATGGCAAAACCCCCG TCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTA GTCCCAGCTACTCAGGAGGCTGAGGCAGGATAATTGCTTGAACCTGGGAG GCAGACGTTGCAGTGAGCTGAGATCAAGCCACGGCACTCCAGTTTGGGTG ACATACCTTGTCTCAAAGAAACAAAACAGGGCCGGGCACGGTGGCTCACA CCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCA GAAGATAGAGGCCAACATGGTGAAACCCCATCTGTACTAAAAATACAAAA ATTAGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTACTCGGGAGGC TGGGGCAGGAGAATCGCTTGAACCAGGGAGTCGGAGGTTGCAGTGAGCCG AGGTTGTGCCACTGCACTCCAGCCTCGCGACAGAGCGAGACTCCGTCTCA AAAAACAACGACGACAACAACAATAAAAAACAGGCCGGGTGCAGTGGCTT AACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGAGGATCACCT GAGGCCAGGAG	USHBP1	ENSG00000130307.12	transcript	ENST00000252597.8	protein_coding	13/13	809		chr19	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(590): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATACTATATAATATATATATTTTTATATATTATATATAATATATAATA TATATTATGTATTATATAATTATATAAAATATATCATATATTATATATTA TAAATAATATATTATATATATTATATATTATAAATAATATATTATATATT ATATTATATATTATAAATAATATATTATATATTATATTATATATTATAAA TAATATATTATATATTATATTATATATTATAAATAATATATTATATATTA TATTATATATTATAAATAATATATTATATATTATATTATATATTATAAAT AATATATTTTATATTATATATTATAAATAATATATTATATATTATATTAT AAATAATATATTATATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0041 a0001c0001t0119g0041	1	44	0.0227	597	c.-1- others(614): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATACTATATAATATATATATTTTTATATATTA TATATAATATATAATATATATTATGTATTATATAATTATATAAAATATAT CATATATTATATATTATAAATAATATATTATATATATTATATATTATAAA TAATATATTATATATTATATTATATATTATAAATAATATATTATATATTA TATTATATATTATAAATAATATATTATATATTATATTATATATTATAAAT AATATATTATATATTATATTATATATTATAAATAATATATTATATATTAT ATTATATATTATAAATAATATATTTTATATTATATATTATAAATAATATA TTATATATTATATTATAAATAATATATTATATATTATAAATAATATATTA TATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCA7_chr19_1035107_1070572	1049694	C C	CCCCCCCA others(591): Show CCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCCACCACTCCCTCCCTGT GAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGT GAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCCACCACTCCCTCCCC GTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTC CCCGTGAGGCCCCCCACCACTCCCCTCCCTGTGAACCCCCCACCACTCCC CTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTC CCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTC CCTCCCCGTGAGCCCCCCCACCACTCCCTCCCGTGAGCCCCCCGACCGCT CCCCTCCCCGTGAGTCCCCCGACCACTCCCTCCCCGTGAGCCCCCCCGAC CGCTCCCTCCCCGTGAGTCCCCCGACCACTCCCTCCCTGTGAGCCCCCCC CGGACCACTCCCTCCCTGTGAGTTCCCCCACCACTCCCTCCCTGTGAGCC CCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0023 a0003c0004t0001g0023	1	24	0.0417	598	c.255 others(615): Show c.2552+289_2552+290insCACCACTCCCTCCCTGTGAACCCCCCAC CACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCAC CACTCCCTCCCTGTGAGCCCCCCCCACCACTCCCTCCCCGTGAACCCCCC ACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCC CCCCACCACTCCCCTCCCTGTGAACCCCCCACCACTCCCCTCCCCGTGAG GCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCTGTGA GCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCCGTGA GCCCCCCCACCACTCCCTCCCGTGAGCCCCCCGACCGCTCCCCTCCCCGT GAGTCCCCCGACCACTCCCTCCCCGTGAGCCCCCCCGACCGCTCCCTCCC CGTGAGTCCCCCGACCACTCCCTCCCTGTGAGCCCCCCCCGGACCACTCC CTCCCTGTGAGTTCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTC CCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAACCCCCCACCACT CCCTCCCCGTGAGGCCCCCC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(591): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAA ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	224	0.0045	598	c.-10 others(609): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATA AATTTTTATATGATATATAAATATAAATTTTTATATATGATATATAAATA TAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATA AATATAAATTTTTATTTATGATATATAAATATAAATTTTTATTTATGATA TATAAATATAAATTTTTATTTATGATATATAAATATAAATTTTTATTTAT GATATATAAATATAAATTTTTATATATTTATGATATATAAATATAAATTT TTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(591): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGATGGA GGGAGGGAAGGAAAGGAGGGATGGGATGGAGGGAGGGAAGGAAAGGAGGG ATGGGATGGAGGGAGGGAAGGAAAGGAGGGATGGGATGGGAGGGAGGGAA GGAAAGGAGGGATGGGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGATG GAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGAAGGAAAGGAGGGATG GGATGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAA AGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGA TGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGG AAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0094 a0002c0001t0007g0094	1	25	0.0400	598	c.259 others(619): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTC CCTCCCTCCTTTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCCT CCCTCCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCCCATCCCTC CTTTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCAT CCCATCCCTCCTTTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCC CTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTT CCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCC TCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCTC CCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ARHGAP39_chr8_144524179_144690846	144687228	C C	CCCCGTGA others(591): Show CCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCTGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCAC TTCTCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGA CCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGT GAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCC CGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTA GCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCC CACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACA CACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCA CTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTG ACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGG TGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	209	0.0048	598	c.-16 others(609): Show c.-1625_-1624insTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTG GGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG GGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTC GCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTG GTCACGGGGTGAGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAA GTGCTCGCCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCGCCGCCAG TGCGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1383		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687405	A A	ACCCCGTG others(591): Show ACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACG CACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCA CTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGA CCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGC GAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCC CGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTG GCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCC CACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACA CACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCA CTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGA CCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGC GAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	211	0.0047	598	c.-18 others(609): Show c.-1802_-1801insGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGG GGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTC GCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGG TCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAG TGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTG TGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTG GGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGC CAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACG GGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTC GCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGG TCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAG TGCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGT GCGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1560		chr8	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(591): Show ATATATATATAGTTTATATATATATAGTTTATATATATATACTATATATA TAGTTTATATATACTATATATATAGTTTATATATATATACTATATATAGT TTATATATATATACTATATATAGTATATATATACTATATATATACTATAT ATATAGTTTATATATATATACTATATATATAGTTTATATATATACTATAT ATATAGTTTATATATATACTATATATATAGTTTATATATATATAAACTAT ATATATAGTTTATATATATATACTATATATATAGTATATATATATAAACT ATATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATA TATACTATATATATAGTATATATATATATAAACTATATATATAGTTTATA TATATATAAACTATATATATAGTTTATATATATATATACTATATATATAG TTTATATATATATATATACTATATATATAGTTTATATATATATATACTAT ATATATAGTTTATATATATATACTATATATATAGTTTATATATATATATA CTATATATATAGTTTATATATATATATACTATATATATAGTTTATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	164	0.0061	598	c.331 others(617): Show c.3314-1170_3314-1169insATATATAAACTATATATATAGTATAT ATATATATAAACTATATATATAGTATATATATATATAAACTATATATATA GTATATATATATAAACTATATATATAGTATATATATATATAAACTATATA TATAGTATATATATATATATAAACTATATATATAGTATATATATATATAA ACTATATATATAGTTTATATATATATAAACTATATATATAGTTTATATAT ATATATACTATATATATAGTATATATATATATAAACTATATATATAGTTT ATATATATATAAACTATATATATAGTTTATATATATATACTATATATATA GTATATATATATAAACTATATATATAGTTTATATATATATAAACTATATA TATAGTATATATATAAACTATATATATAGTATATATATAAACTATATATA TAGTATATATATATAAACTATATATATAGTATATATATAGTATATATATA CTATATATAGTATATATATATAAACTATATATAGTATATATATATAAACT ATATATATAGTATATATAAACTATATATATAGTATATATATATAAACTAT ATATATATAAACTATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(591): Show ATATATATATAGTTTATATATATATAGTTTATATATATATACTATATATA TAGTTTATATATACTATATATATAGTTTATATATATATACTATATATAGT TTATATATATATACTATATATAGTATATATATACTATATATATACTATAT ATATAGTTTATATATATATACTATATATATAGTTTATATATATACTATAT ATATAGTTTATATATATACTATATATATAGTTTATATATATATAAACTAT ATATATAGTTTATATATATATACTATATATATAGTATATATATATAAACT ATATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATA TATACTATATATATAGTATATATATATATACTATATATATAGTTTATATA TATATAAACTATATATATAGTTTATATATATATATACTATATATATAGTT TATATATATATATATACTATATATATAGTTTATATATATATATACTATAT ATATAGTTTATATATATATACTATATATATAGTTTATATATATATATACT ATATATATAGTTTATATATATATATACTATATATATAGTTTATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	164	0.0061	598	c.331 others(617): Show c.3314-1170_3314-1169insATATATATAAACTATATATATAGTAT ATATATATATAAACTATATATATAGTATATATATATATAAACTATATATA TAGTATATATATATAAACTATATATATAGTATATATATATATAAACTATA TATATAGTATATATATATATATAAACTATATATATAGTATATATATATAT AAACTATATATATAGTTTATATATATATAAACTATATATATAGTATATAT ATATATACTATATATATAGTATATATATATATAAACTATATATATAGTTT ATATATATATAAACTATATATATAGTTTATATATATATACTATATATATA GTATATATATATAAACTATATATATAGTTTATATATATATAAACTATATA TATAGTATATATATAAACTATATATATAGTATATATATAAACTATATATA TAGTATATATATATAAACTATATATATAGTATATATATAGTATATATATA CTATATATAGTATATATATATAAACTATATATAGTATATATATATAAACT ATATATATAGTATATATAAACTATATATATAGTATATATATATAAACTAT ATATATATAAACTATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(591): Show ATATATATATAGTTTATATATATATAGTTTATATATATATACTATATATA TAGTTTATATATACTATATATATAGTTTATATATATATACTATATATAGT TTATATATATATACTATATATAGTATATATATACTATATATATACTATAT ATATAGTTTATATATATATACTATATATATAGTTTATATATATATATACT ATATATATAGTTTATATATAAACTATATATATAGTTTATATATATATAAA CTATATATATAGTTTATATATATATACTATATATATAGTATATATATATA AACTATATATATAGTTTATATATATATAAACTATATATATAGTTTATATA TATATATACTATATATATAGTATATATATATATAAACTATATATATAGTT TATATATATATAAACTATATATATAGTTTATATATATATATACTATATAT ATAGTTTATATATATATATATACTATATATATAGTTTATATATATATATA CTATATATATAGTTTATATATATATACTATATATATAGTTTATATATATA TATACTATATATATAGTTTATATATATATATACTATATATATAGTTTAT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	164	0.0061	598	c.331 others(617): Show c.3314-1170_3314-1169insATAAACTATATATATAGTATATATAT ATATAAACTATATATATAGTATATATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATATATAAACTATATATATA GTATATATATATATATAAACTATATATATAGTATATATATATATAAACTA TATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATAT ATACTATATATATAGTATATATATATATAAACTATATATATAGTTTATAT ATATATAAACTATATATATAGTTTATATATATATACTATATATATAGTAT ATATATATAAACTATATATATAGTTTATATATATATAAACTATATATATA GTTTATATATAAACTATATATATAGTATATATATATATAAACTATATATA TAGTATATATATATAAACTATATATATAGTATATATATAGTATATATATA CTATATATAGTATATATATATAAACTATATATAGTATATATATATAAACT ATATATATAGTATATATAAACTATATATATAGTATATATATATAAACTAT ATATATATAAACTATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(591): Show ATATATATATAGTTTATATATATATAGTTTATATATATATACTATATATA TAGTTTATATATACTATATATATAGTTTATATATATATACTATATATAGT TTATATATATATACTATATATAGTATATATATACTATATATATACTATAT ATATAGTTTATATATATATACTATATATATAGTTTATATATATATATACT ATATATATAGTTTATATATATACTATATATATAGTTTATATATATATAAA CTATATATATAGTTTATATATATATACTATATATATAGTATATATATATA AACTATATATATAGTTTATATATATATAAACTATATATATAGTTTATATA TATATATACTATATATATAGTATATATATATATAAACTATATATATAGTT TATATATATATAAACTATATATATAGTTTATATATATATATACTATATAT ATAGTTTATATATATATATATACTATATATATAGTTTATATATATATATA CTATATATATAGTTTATATATATATACTATATATATAGTTTATATATATA TATACTATATATATAGTTTATATATATATATACTATATATATAGTTTAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	164	0.0061	598	c.331 others(617): Show c.3314-1170_3314-1169insATAAACTATATATATAGTATATATAT ATATAAACTATATATATAGTATATATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATATATAAACTATATATATA GTATATATATATATATAAACTATATATATAGTATATATATATATAAACTA TATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATAT ATACTATATATATAGTATATATATATATAAACTATATATATAGTTTATAT ATATATAAACTATATATATAGTTTATATATATATACTATATATATAGTAT ATATATATAAACTATATATATAGTTTATATATATATAAACTATATATATA GTATATATATAAACTATATATATAGTATATATATATATAAACTATATATA TAGTATATATATATAAACTATATATATAGTATATATATAGTATATATATA CTATATATAGTATATATATATAAACTATATATAGTATATATATATAAACT ATATATATAGTATATATAAACTATATATATAGTATATATATATAAACTAT ATATATATAAACTATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(591): Show TGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGG AGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCTGT CGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGG TGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTC GGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGT GGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCG GGGTCAGAGCAGAGGTGGAGGTGGAGACTGTCGGGGTCAGAGCAGAGGTG GAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGG GGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGG AGGTGGAGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGG GTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0118 a0001c0004t0004g0118	1	76	0.0132	598	c.955 others(615): Show c.955-6221_955-6220insCGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAA CTGTCTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG AACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGAGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGCGGAGGTGGAGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGA CTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCA GAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGAC TGTCGGGGTCAGAGCAGAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B4GALNT4_chr11_364499_387117	374904	A A	AGGAGGAA others(591): Show AGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGG AGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGA GGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGGAGGAGGAAGGAGGGAGGAGGAAGGAGGGAGGGAGGAGGA AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAG GAAGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGG AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGAGAAGGAGGGAGGAGGAAGGGAGGGAGGTGGAA GGGAGGGAGGAGGAAGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0018 a0001c0003t0003g0018	1	181	0.0055	598	c.784 others(613): Show c.784-555_784-554insAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGAGGGAGGAGGAA GGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAGGAAGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGTGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGAAGGAGGGAGGAGG AAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C10orf88_chr10_122925901_122959227	122950755	A A	AGTACCTG others(591): Show AGTACCTGACATTAAGAGGCACTCAAATCTTTGTTGAATGAAGAAATTAC TTTATTCAAATGGTTTTAGAAGCTATTTAATATATACTATCCAAAACAAC ATCTTGGGATAATCAGTCCTGTGAGTTTGCTATCTGCCTGTAAAAATCAC TTATTTTTTCTTATTGTAAAAATAGGTTTCAATCTTCTATAAGTAATGAT AATAAGTACAGAAGTTTAGAGATAAAAAGAATCCAAGAATTTTCTTCAGC TCTCTAATTTTACCCATGAGATAGGTCCAAAATCTGCCCAAGACTAATCC ACTAGTCAGGACAGAACTGAATTAGCATTCAGGGCTTAAGACTTCCAATC CATTACCTTATCCCTAGACTCTGAAGACATAACTAACAGTTACCTTAACA ATATTTTTCATGCTGAAGACAACAGTCCAATCCCTTTAACTTATTGGTTC TCTTGCTTGAAACTTCTCTAATTTTGTTCTTTTATAAATGGGTTTTTGCC ATCACAGTTTATATAGTTTTTAAAAATGTTTTTTGCTCAATTTCCCAACA CTTCAAAATACACAGCACTACCATATTAACAATACATTATCCAAGGTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	400	0.0025	598	c.441 others(615): Show c.441+1198_441+1199insAAACCTTGGATAATGTATTGTTAATATG GTAGTGCTGTGTATTTTGAAGTGTTGGGAAATTGAGCAAAAAACATTTTT AAAAACTATATAAACTGTGATGGCAAAAACCCATTTATAAAAGAACAAAA TTAGAGAAGTTTCAAGCAAGAGAACCAATAAGTTAAAGGGATTGGACTGT TGTCTTCAGCATGAAAAATATTGTTAAGGTAACTGTTAGTTATGTCTTCA GAGTCTAGGGATAAGGTAATGGATTGGAAGTCTTAAGCCCTGAATGCTAA TTCAGTTCTGTCCTGACTAGTGGATTAGTCTTGGGCAGATTTTGGACCTA TCTCATGGGTAAAATTAGAGAGCTGAAGAAAATTCTTGGATTCTTTTTAT CTCTAAACTTCTGTACTTATTATCATTACTTATAGAAGATTGAAACCTAT TTTTACAATAAGAAAAAATAAGTGATTTTTACAGGCAGATAGCAAACTCA CAGGACTGATTATCCCAAGATGTTGTTTTGGATAGTATATATTAAATAGC TTCTAAAACCATTTGAATAAAGTAATTTCTTCATTCAACAAAGATTTGAG TGCCTCTTAATGTCAGGTAC	C10orf88	ENSG00000119965.13	transcript	ENST00000481909.2	protein_coding	3/5			chr10	TogoVar
C1QTNF12_chr1_1237453_1251722	1249410	A A	ACGGGCAG others(591): Show ACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCG CCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGC TTGGGCCTCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGG CTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACAC GGGCCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGC CCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCT GGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGC TGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACG GGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCC TACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGG GCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTG GACCGAGGGAGGCTGGGCCTCCCACTCCGCCCCTACAGGCCGGGGACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	326	0.0031	598	c.-27 others(609): Show c.-2721_-2720insGTGTCCCCGGCCTGTAGGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGG CGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGT GTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCC TCCCAGGGCTGGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAG CCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGC GGAGTGGAGGCCCAAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTG TCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCT CCCAGGGCTGCCCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2689		chr1	TogoVar
C20orf96_chr20_265863_295750	279045	C C	CGGGAGGG others(591): Show CGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGAG GGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGG ACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCG GGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGG ACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAC GGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGG ACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCG GGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGG AGGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAG GGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGA CGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGG AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGGA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0186 a0002c0004t0001g0186	1	308	0.0032	598	c.465 others(613): Show c.465+126_465+127insTCCCTCCATCCCTCCCGCCCTCCCTCCCTC CGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGT CCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCC TCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCGTC CCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCG TCCCGCCCTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCG TCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTC CCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCC GCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTC CCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCC TCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCGC CCTCCGTCCCGCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CALN1_chr7_71774491_72417338	72209170	T T	TTCCTTCC others(591): Show TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTT CCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCC GTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCTTT CCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCC TTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCCT CTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCC TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTT CCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCC CTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC TTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0046 a0001c0001t0014g0046	1	127	0.0079	598	c.244 others(617): Show c.244+69515_244+69516insGGGAAGGAAGGAGGGAAGGAGGGAAG GAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAG GAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAGA GGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAG GAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGA AGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGACG GAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGA GGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAG GAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGA AGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAA GAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAAGGGAAGGAGGGAAG GAAAGAGGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(591): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGGTGTGTGGGGCTGGGGAGGGTTGGG GTGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTG GGGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGT GTGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGG GCTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGG GGGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGC AGGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGG TGGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTG GGGTGGAGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTGGG GGAAGGGTGTGGGTGGGGTGGGGGAGGGGTGTGGGTGGGGTGGGGGTGGG AGGGGTGGGAGGGGTGGGAGGGGGTGGGGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0259 a0001c0001t0020g0259	1	4	0.2500	598	c.712 others(615): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCACCCCTCCCACCCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACTCCACCCCACCCCCTCCCACCCCACCCCACCCCTCC CCCACCCACACCCTTCCCCCACCCCACCCCTCCCTCCCCCACCCCTCCTC CACCCCTCCTCCACCCCACCTGCACCCTTCCCCCACCCCACCCCTCCTCC ACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCTCCCCCTCCCAC CCCACCCCACCCCTCCCCAGCCCCACCCATACCCTTCCCCCACTCCACCC CACCCCTCCCCAGCCCCACACACACCCTTCCCCCACCCCAACCCTCCCCA GCCCCACCCACACCCTTCCCCCACCCCACCCCACCCCTCCCCCACCCCAC CCCAACCCTCCCCCACCCCACCCCAACCCTCCCCAGCCCCACACACCCCT TCCCCCACCCCAACCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCC ACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar

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