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
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(424): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATG GGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGT GGTGGTGGTGATAATGGTGATGGTGGTGATGGTGATGGTGATGATGGTGA TGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGG TGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATG GTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGAT GGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0028	1	374	0.0027	431	c.-46 others(442): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGAT GGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGA TGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGG GGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGATA ATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGAT GGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
PXDN_chr2_1626887_1749515	1720240	G G	GGAGGGAG others(424): Show GGAGGGAGGGATGCAGAGAGAGAGGGAGGGGAGGGATGTAGAGAGAGAGA GAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGTAGAGA GAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATG CAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGA GGGATGCAGAGAGAGAGAGAGGGAGGGATGCAGAGAGAGAGAGGGAGGGA GGGATGCAGAGAGAGAGGGAGGGAAGAATGCAGAGAGAGAGAGAGGGAGG GAGGGATGCAGAGAGAGAGGGAGGGAAGAATGCAGAGAGAGAGAGAGAGG GAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGA GAGATGCACAGAGAGAGGGAGGGATGCAGAGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03139.hp1 NA21309.hp2 HG02572.hp2 HG03139.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0021 a0001c0013t0001 a0001c0001t0001 a0001c0001t0021 a0001c0013t0001	a0001c0001t0001g0162 a0001c0001t0021g0160 a0001c0013t0001g0163 a0001c0001t0001g0162 a0001c0001t0021g0160 a0001c0013t0001g0163	3	322	0.0093	431	c.200 others(450): Show c.200+24015_200+24016insTCTCTGCATCCCTCCCTCTCTCTGTG CATCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCC TCCCTCCCTCTCTCTCTCTCTCTGCATTCTTCCCTCCCTCTCTCTCTGCA TCCCTCCCTCCCTCTCTCTCTCTCTGCATTCTTCCCTCCCTCTCTCTCTG CATCCCTCCCTCCCTCTCTCTCTCTGCATCCCTCCCTCTCTCTCTCTCTG CATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTC TCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTC TCTCTCTCTCTACATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCC TCCCTCTCTCTCTCTCTACATCCCTCCCCTCCCTCTCTCTCTGCATCCCT CCCTC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RBFA_chr18_80029434_80055651	80048941	C C	CGTCTGCT others(424): Show CGTCTGCTCAGTGCCTCCTAGAAAGTGGAGTGTGGGCACGTTTGCAGGGG ATCCAACCAGGCGTCGGCTCAGTGCCTCCTAGAAAGAGGAGTGTGGGCAC GTTTGCAGGGGATCCAACCAGGCGCCGGCTCAGTGCCTCCTAGAAAGAGG AGTGTGGGCACGTTTGCAGGGGATCCAACCAGGCGTCAGCTCAGTGCCTC CTAGAAAGTGGAGTGTGGGCATGTTTGCAGGGGATCCAACCAGGCGTCGG CTCAGTGCCTCCTAGAAAGAGGAGTGTGGGCACGTTTGCAGGGGATCCAA CCAGGCGCCGGCTCAGTGCCTCCTAGAAAGTGGAGTGTGGGCATGTTTGC AGGGGATCCAACCAGGCGCCGGCTCAGTGCCTCCTAGAAAGTGGAGTGTG GGCACGTTTGCAGGGGATCCAACCAGGCGTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0031 a0002c0001t0031	a0002c0001t0031g0102 a0002c0001t0031g0102	1	414	0.0024	431	c.28 others(442): Show c.2829_*2830insCAGGGGATCCAACCAGGCGTCGGCTCAGTGCCTC CTAGAAAGAGGAGTGTGGGCACGTTTGCAGGGGATCCAACCAGGCGCCGG CTCAGTGCCTCCTAGAAAGAGGAGTGTGGGCACGTTTGCAGGGGATCCAA CCAGGCGTCAGCTCAGTGCCTCCTAGAAAGTGGAGTGTGGGCATGTTTGC AGGGGATCCAACCAGGCGTCGGCTCAGTGCCTCCTAGAAAGAGGAGTGTG GGCACGTTTGCAGGGGATCCAACCAGGCGCCGGCTCAGTGCCTCCTAGAA AGTGGAGTGTGGGCATGTTTGCAGGGGATCCAACCAGGCGCCGGCTCAGT GCCTCCTAGAAAGTGGAGTGTGGGCACGTTTGCAGGGGATCCAACCAGGC GTCTGTCTGCTCAGTGCCTCCTAGAAAGTGGAGTGTGGGCACGTTTG	RBFA	ENSG00000101546.13	transcript	ENST00000306735.10	protein_coding	7/7	2830	INFO_REALIGN_3_PRIME	chr18	TogoVar
RNASE10_chr14_20500537_20518884	20506552	G G	GGCCGCCC others(424): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCC GTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGTCCCGTCCGGGAGGGGGGAGGGGGGGT CAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCTATCCAGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCG CCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0199 a0001c0001t0074g0199	1	396	0.0025	431	c.-6+ others(444): Show c.-6+568_-6+569insTGGCCAGCCGCCCCGTCCGGGAGGGGGGAGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGTCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGGGG AGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPA3_chr7_7631518_7723607	7679342	T T	TACATGTT others(424): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	308	0.0033	431	c.-75 others(450): Show c.-758+6487_-758+6488insTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTA TCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATC TATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAA CATGT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679342	T T	TACATGTT others(424): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAGTTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0120 a0001c0001t0006g0120	1	308	0.0033	431	c.-75 others(450): Show c.-758+6487_-758+6488insTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTA TCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATC TATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAA CATGT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679372	T T	TAAATATA others(424): Show TAAATATATGTTTATATATTTAGTTTATAGATAAATATATGTTTATATAT TTAGTTTATAGATACATGTTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATA TATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp1 HG02922.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0286 a0001c0001t0001g0287	2	308	0.0065	431	c.-75 others(450): Show c.-758+6457_-758+6458insTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTA TCTATAAATTAAATATATAAATATATATTTATCTATAAACTAAATATATA AATATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAA ACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAACATGTATCTATA AACTAAATATATAAACATATATTTATCTATAAACTAAATATATAAACATA TATTT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679372	T T	TACATGTT others(424): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	308	0.0033	431	c.-75 others(450): Show c.-758+6457_-758+6458insTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTA TCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATC TATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAA CATGT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	242555	T T	TTACCTTC others(424): Show TTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATT GACTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTAT TGACTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTA TTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCT CTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTC CTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCT TCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTAC CTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTA CCTTCCTCTATTGACTACCTTCCTCTATTGAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0025 a0001c0001t0014g0025	1	133	0.0075	431	c.613 others(448): Show c.613+4555_613+4556insGTCAATAGAGGAAGGTAGTCAATAGAGG AAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAG GAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAAT AGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCA ATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGGTAA TCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTA GTCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGT AGTCAATAGAGGAAGGTAATCAATAGAGGAAGGGTAATCAATAGAGGAAG GTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340584	C C	CCTCCCAC others(424): Show CCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCTCCCACCCAGGC CTCCCCACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCAC ACTCACTGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCC ACCCAGGCCTCCCCACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCC ACATCCACACTCACTGCCTCCCACCCAGGCCTCCCCACATCCACACTCAC TGCCCTGGGCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAG GCCTCCCCACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCC ACACTCACTGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCC CCACCCAGGCCTCCCCACATCCAATCTCACTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0068 a0001c0003t0001g0068	1	133	0.0075	431	c.-21 others(450): Show c.-212-6651_-212-6650insCAGTGAGATTGGATGTGGGGAGGCCT GGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCAGT GAGTGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGACGTGG GGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGCCC AGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGT GGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGACGTGGGGAGGC CTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCA GTGAGTGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGACGT GGGGAGGCCTGGGTGGGAGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGT GGGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340698	G G	GCCCAGGC others(424): Show GCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCC ACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCAC TGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAG GCCTCCCCACATCCAATCTCACTGCCCCGACCCAGGCCTCCCCACATCCA CACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGTCCCC CACCCAGGCTTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCC CACATCCACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTCA CTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCA GGCCTCCCCACATCCACACTCACTGCCCCCCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	133	0.0075	431	c.-21 others(450): Show c.-212-6765_-212-6764insTGGGGGGCAGTGAGTGTGGATGTGGG GAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGG GGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCGGGGCAGTGAGTGTG GATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAAGCC TGGGTGGGGGACAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAG TGAGTGTGGATGTGGGGAGGCCTGGGTCGGGGCAGTGAGATTGGATGTGG GGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGG GAGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGT GGACGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGC CTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGCGA others(424): Show GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG AGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGA GGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGA GCGAGGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGG AGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0235 a0001c0004t0022g0235	1	370	0.0027	431	c.-30 others(450): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCC CTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGC TCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGC TCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCC TCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCT CCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTC CCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTC GCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SH2D4B_chr10_80532902_80651560	80583495	C C	CTCATCTC others(424): Show CTCATCTCTACTAAAAATACAAATATTAGCCGGGCGTGATGGCACATGCC TGTAATCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGATTGAACACG GAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCCAGCCCAA GCAACAAGAGGGAAACTTCATCTCAGAAAAAAAAAAAAAGAGAGAGAGAA AAAAAAAGGTGTCTGTGGCCACACACATGAATATAAACAGTCTACGGATC AGAGAGGCATGCATGACTGTTCCTTTGCCACAAAAGTCTGCAACCTCCCA AGTTCCCAGGGACAGGCATGAGCTTGGGGCTTTGTTTCTCTGATGTGGTC ATAGTTCTTTAGAACCAGTGCCTTGATGTAAAGTGCCATGTGTGAAGGAC GTTTTCTTCAATTCCTCCTTTGTAAGGATTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02976.hp1 HG03130.hp2 others(3): Show HG02451.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03579.hp1 HG03579.hp2	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0010 a0002c0007 a0018c0029 a0001c0010 a0002c0007 a0018c0029	a0001c0010t0001 a0002c0007t0001 a0002c0007t0010 others(1): Show a0001c0010t0001 a0002c0007t0001 a0002c0007t0010 a0018c0029t0004	a0001c0010t0001g0015 a0002c0007t0001g0001 a0002c0007t0001g0016 others(2): Show a0001c0010t0001g0015 a0002c0007t0001g0001 a0002c0007t0001g0016 a0002c0007t0010g0005 a0018c0029t0004g0032	6	322	0.0186	431	c.496 others(448): Show c.496-5135_496-5134insTCATCTCTACTAAAAATACAAATATTAG CCGGGCGTGATGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGG CAAGAGAATCGATTGAACACGGAGGCGGAGGTTGTGGTGAGCCGAGATCG CGCCATTGCACTCCAGCCCAAGCAACAAGAGGGAAACTTCATCTCAGAAA AAAAAAAAAAGAGAGAGAGAAAAAAAAAGGTGTCTGTGGCCACACACATG AATATAAACAGTCTACGGATCAGAGAGGCATGCATGACTGTTCCTTTGCC ACAAAAGTCTGCAACCTCCCAAGTTCCCAGGGACAGGCATGAGCTTGGGG CTTTGTTTCTCTGATGTGGTCATAGTTCTTTAGAACCAGTGCCTTGATGT AAAGTGCCATGTGTGAAGGACGTTTTCTTCAATTCCTCCTTTGTAAGGAT TTT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7			chr10	TogoVar
SKI_chr1_2223319_2315213	2280720	C C	CGATCTTC others(424): Show CGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTT CAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAG CGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGC CCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAG GACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC GGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGCG GAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT TCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGA GAGAGATGCCCGAGAAGACAGGCGGTGGCGGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0002 a0002c0015t0002	a0002c0015t0002g0185 a0002c0015t0002g0185	1	330	0.0030	431	c.970 others(450): Show c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG GCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA GCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATG CCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGG CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATC TTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141203228	G G	GGAAAGAG others(424): Show GGAAAGAGAGGGAGAGGGAGACCGTGGAGAGAGGGAGAGGGAGAGGGAGA GGAGACCGTGGAGAGAGGGAGAGGGAGAGGGAGACCGTGGAGAGAGAGAG AGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAG ACCGTGGAGAGAGAGAGAGAGAGGGAGAGGAGAGAGGGAGAGAGGGAGAG AGAGAGAGAGAGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGGGAGAGAGAGACCG TGGAGAGAGGGAGAGGGAGACCGTGGAGAGAGAGAGAGAGGGAGAGAGGA GAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0011 a0001c0017t0001g0011	1	188	0.0053	431	c.83 others(442): Show c.8343_*8344insTCCCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTC CTCTCTCCCTCTCTCTCTCTCTCCACGGTCTCCCTCTCCCTCTCTCCACG GTCTCTCTCTCCCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCTCTCTCT CTCCCTCTCTCCCTCTCTCCTCTCCCTCTCTCTCTCTCTCTCCACGGTCT CCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCT CTCTCTCTCCACGGTCTCCCTCTCCCTCTCCCTCTCTCCACGGTCTCCTC TCCCTCTCCCTCTCCCTCTCTCCACGGTCTCCCTCTCCCTCTCTTTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3945		chr8	TogoVar
SMYD3_chr1_245744347_246512279	245798402	A A	ACCACACA others(424): Show ACCACACATACACACACACACATACACACACAAACACACACACATACACA CCACACACACATACCCACACACACACATACATACACACCACACACCCCCA CACACATACACACACACAAAAATACACATACACACAAACACACAAATACA CACATACACACAAAAATACACATACACACAAACACACAAATACACACACA GAAATACACATACATACACACACACACACCCACATACCCACACACATACC CACACACCCACAAACACACATACACACACACACAAATACACACACATACA TAACACACCCACACACATACACACACACAATACACATACACACAAACACA CACATACACATACAAAAATACACACATACACACACACAAATACACACATA CACACACATACCCACACACACATACACACACT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0025 a0001c0006t0001g0025	1	150	0.0067	431	c.107 others(452): Show c.1077-34254_1077-34253insAGTGTGTGTATGTGTGTGTGGGTA TGTGTGTGTATGTGTGTATTTGTGTGTGTGTATGTGTGTATTTTTGTATG TGTATGTGTGTGTTTGTGTGTATGTGTATTGTGTGTGTGTATGTGTGTGG GTGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTATGTGTGTTTGTG GGTGTGTGGGTATGTGTGTGGGTATGTGGGTGTGTGTGTGTGTATGTATG TGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTG TGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGTGTGTG TATGTGTGTGGGGGTGTGTGGTGTGTATGTATGTGTGTGTGTGGGTATGT GTGTGTGGTGTGTATGTGTGTGTGTTTGTGTGTGTATGTGTGTGTGTGTA TGTGTGG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SORCS2_chr4_7187538_7747827	7449241	C C	CCCTTCCT others(424): Show CCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCT CCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTC CGTACTTCCTCTCCCCTCCCTCCCTCTTTTCCTTTCTCTCCCCTCCATCC CGCCCTCCCTCCCTTCCTCTTTTCCCTCTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0085 a0001c0001t0009g0085	1	168	0.0060	431	c.548 others(450): Show c.548+52889_548+52890insTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT TCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTCCCTCCCTTCCGTACTTCCTCTCCCCTCCCTCCCTCTTTT CCTTTCTCTCCCCTCCATCCCGCCCTCCCTCCCTTCCTCTTTTCCCTCTC TTCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPIRE2_chr16_89823475_89876319	89852625	C C	CCCATCTT others(424): Show CCCATCTTCCATCCTCCCCCCACCCCCCGGATCCCATGGCCCATCTTCCG TCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCTCCCCA CCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATC CCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCGGATCCCATGGCCCAT CTTCCGTCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTC TCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCAACCCCC CAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCGGATCCCACG GCCCATCTTCCATCCTCCCCCCAACCCCCCAGATCCCCTGGCCCATCTTC CGTCCTCCCTCTCACCCCCCGGATCCCATGAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0008 a0007c0010t0008	a0007c0010t0008g0313 a0007c0010t0008g0313	1	356	0.0028	431	c.646 others(448): Show c.646-1659_646-1658insATCTTCCATCCTCCCCCCACCCCCCGGA TCCCATGGCCCATCTTCCGTCCTCCCCCCACCCCCCAGATCCCCTGGCCC ATCTTCCATCCTCTCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCC TCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCC CCCGGATCCCATGGCCCATCTTCCGTCCTCCCCCCACCCCCCAGATCCCC TGGCCCATCTTCCATCCTCTCCCCACCCCCCAGATCCCCTGGCCCATCTT CCATCCTCCCCCAACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCC CCACCCCCCGGATCCCACGGCCCATCTTCCATCCTCCCCCCAACCCCCCA GATCCCCTGGCCCATCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGA TCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(424): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAG GGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGGGGAGAGAGAGGGGGAGAGAGAGGGGGAGGGAGGGGGAGGGAGGGG GGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAG AGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGGGGGAGAGAGAGG GGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0109 a0001c0004t0109	a0001c0004t0109g0096 a0001c0004t0109g0096	1	276	0.0036	431	c.-18 others(450): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCTCTCTCTC CCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTC TCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCCCTCCCCCTCTC TCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCTCCGCC TCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCCCCCTCTCTCTCC CCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(424): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGA GGGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGAGGGAGGGGGAGAGAGG GGGGGAGAGGGGGAGGGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGA GGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGCGGAGGGAGGGG GGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGAGGGGGGAGA GAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGGGGAGAGAGAGGGG GAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0121 a0001c0001t0121	a0001c0001t0121g0262 a0001c0001t0121g0262	1	276	0.0036	431	c.-18 others(450): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCTCCCTCCCTCCC TCCCTCCCCCTCTCTCTCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC CCTCTCTCTCCCCCCTCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCGCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCT CCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCT CCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTC TCCCCCCCTCTCTCCCCCTCCCTCCCCTCTCTCCCCCCCTCCCCCTCTCT CCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCCTCCCTCCCTCTCCGCC TCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCCCCCTCTCTCTCC CCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TBC1D22A_chr22_46757650_47180693	47128216	C C	CCATCCTC others(424): Show CCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCC CTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCT ACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCC CTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCCCCCC ACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCAC CCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCC TCCACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTC CACCCCACCCATCCCTCCTCCGCCCCACCCACCACCCCTCCACCCCACCC ATCCCCCCTTCCCTCACCCATCCCTCCCTCCG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0108 a0001c0001t0006g0108	1	112	0.0089	431	c.142 others(452): Show c.1425+16614_1425+16615insATCCTCCCTCCACCCCACCCATCC TCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGC CCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACC CCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGC CCCACCCATCCCTCCCTCCCCCCCACCCATCCCTCCCTCCGCCCCACCCA TCCCTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTCC CCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCAC CCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCTCCTCCGCCCC ACCCACCACCCCTCCACCCCACCCATCCCCCCTTCCCTCACCCATCCCTC CCTCCGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCD_chr17_82747065_82950914	82785406	A A	ACCCATCG others(424): Show ACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGA CCCGACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCAC TGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGATGTGTGACTGGGA CCACTGGATCCCGTCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACT GAGACCACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGT GACTGGGACCACTGGACCCCACCCATCGCAGCGGGAGGGGGGTCCATGCT GTGTGACTGGGACCACTGGATCCCACCCATCGCAGCGACAGGGGGTCCAT GCTGTGTGACTGAGACCACTGGATCCCACCCATCGCAGCGGGAGGGGGGT CCATGCTGTGTGACTGGGACCACTGGATCCCG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01891.hp1 HG02145.hp1 others(5): Show HG01168.hp1 HG01891.hp1 HG02145.hp1 HG02965.hp1 HG02970.hp2 NA19030.hp2 NA19043.hp2 NA20300.hp2	a0002 a0002	a0002c0007 a0002c0010 a0002c0007 a0002c0010	a0002c0007t0023 a0002c0010t0008 a0002c0010t0009 others(1): Show a0002c0007t0023 a0002c0010t0008 a0002c0010t0009 a0002c0010t0038	a0002c0007t0023g0172 a0002c0007t0023g0173 a0002c0010t0008g0168 others(5): Show a0002c0007t0023g0172 a0002c0007t0023g0173 a0002c0010t0008g0168 a0002c0010t0009g0142 a0002c0010t0009g0143 a0002c0010t0009g0145 a0002c0010t0009g0166 a0002c0010t0038g0291	8	318	0.0252	431	c.771 others(448): Show c.771+3812_771+3813insGGTCCATGATGTGTGACTGGGACCACTG GATCCCGTCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGAGACC ACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGG GACCACTGGACCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGA CTGGGACCACTGGATCCCACCCATCGCAGCGACAGGGGGTCCATGCTGTG TGACTGAGACCACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGC TGTGTGACTGGGACCACTGGATCCCGCCCATCGCAGCGGGAGGGGGGTCC ATGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGGGAGGGGG GTCCATGCTGTGTGACTGGGACCACTGGATCCCACCCATCGCAGCGGGAG GGG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TCF3_chr19_1604292_1657615	1628596	A A	ACGGGGTG others(424): Show ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGGGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCA CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAG GGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCAC GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGG GGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACA GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAG GGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC AGGGGGTGAGGCGGGAAGGGGACAGCAGAACT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0267 a0001c0002t0002g0267	1	352	0.0028	431	c.299 others(448): Show c.299-1171_299-1170insAGTTCTGCTGTCCCCTTCCCGCCTCACC CCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTG TCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCCTGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCT GTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCA CCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTG TCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGT CCCCTTCCCGCCCCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACC CCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TMEM239_chr20_2811364_2823062	2823000	G G	GTCTCCCT others(424): Show GTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCC CTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTC CCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTC CCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCT CCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTC TCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTC TCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	400	0.0025	431	c.59 others(442): Show c.5987_*5988insTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCT CCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGT CTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCT CTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCC TCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCC GTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	TMEM239	ENSG00000198326.10	transcript	ENST00000380585.2	protein_coding		4939		chr20	TogoVar
TMPRSS2_chr21_41459305_41513158	41474621	A A	AGTGAGGA others(424): Show AGTGAGGAGGTGAGCGGGTGAGGGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGTGAGGGGGTGAGGGGGTGAGTGAGGGGGTGAGGGAGTGAGTGAGGGGG TGAGGGGTGAGTGAGGGGGCGAGGGGGTGAGTGAGGAGGTGAGCGGGTGA GGGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGT GAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGA GTGAGGGGGTGAGGGGTGAGTGAGGGGGCGAGGGGGTGAGTGAGGGGGCG AGGGGGTGAGTGAGGAGGTGAGCGGGTGAGGGAGGAGGTGAGGGGGTGAG TGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0041 a0002c0005t0001g0041	1	382	0.0026	431	c.728 others(448): Show c.728-1126_728-1125insCTCACCCCCTCACTCACCCCCTCACCTC CTCACTCACCCCCTCACCTCCTCCCTCACCCGCTCACCTCCTCACTCACC CCCTCGCCCCCTCACTCACCCCCTCGCCCCCTCACTCACCCCTCACCCCC TCACTCACCCCCTCACCCCCTCACTCACCCCCTCACCCCCTCACTCACCC CCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCC TCCCTCACCCGCTCACCTCCTCACTCACCCCCTCGCCCCCTCACTCACCC CTCACCCCCTCACTCACTCCCTCACCCCCTCACTCACCCCCTCACCCCCT CACTCACCCCCTCACCCCCTCACTCACCCCCTCACCCCCTCACTCACCCC CTCACCTCCTCACTCACCCCCTCACCTCCTCCCTCACCCGCTCACCTCCT CAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TP53AIP1_chr11_128930370_128947871	128930636	C C	CGGGGTTA others(424): Show CGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTA GGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGA GGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTA GGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAG ACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0063 a0002c0002t0002g0063	1	466	0.0022	431	c.49 others(442): Show c.4954_*4955insTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCT CCCTAACCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTA ACCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTC CCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTA ACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4733		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930666	C C	CAGGGGTT others(424): Show CAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGG GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGG GATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTT AGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGA GACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	466	0.0022	431	c.49 others(442): Show c.4924_*4925insTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTC CCTAACCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAA CCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCC TGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTC CCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCC CAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4703		chr11	TogoVar
TPO_chr2_1408463_1548673	1525594	A A	ACCTCCCC others(424): Show ACCTCCCCAAATCCCTCCCACTGTGTGCAGCCTCCCCAAATCCTCCCGAC TCTGTGCAACCTCCCAAAATTGCCCCCACTGTGTGCAACCTCCTCAAATC CCTCCCACTCTGTGCAAACTCCCCAAACCCCCACACTCTGTGCAACCGCC CCATATCCCCCCCACTCTGTGCAACCTCCCCAAAACACCCCTCAATGTGT GCAACCTCGCCCAATCACGACACTGTGTGCAATCTCCCCAAATCCCCCCC ACTCTCTGCAACCTCCCCAAATCACCCCCACTCTCTGCAACCTCCCCAAA TCACCCCCACTCTCTGCAACCTCCCCAAATCACCCCCACTCTCTGCAACC TCCCCAAATCCCTCACACTGTGTGCAACCTCCTCAAATCACCCTACTGTG TGCAACCTCCTCAAATCACCCCCACTGTGTGC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0074 a0002c0002t0003g0074	1	130	0.0077	431	c.261 others(450): Show c.2618+8612_2618+8613insCCTCCCCAAATCCCTCCCACTGTGTG CAGCCTCCCCAAATCCTCCCGACTCTGTGCAACCTCCCAAAATTGCCCCC ACTGTGTGCAACCTCCTCAAATCCCTCCCACTCTGTGCAAACTCCCCAAA CCCCCACACTCTGTGCAACCGCCCCATATCCCCCCCACTCTGTGCAACCT CCCCAAAACACCCCTCAATGTGTGCAACCTCGCCCAATCACGACACTGTG TGCAATCTCCCCAAATCCCCCCCACTCTCTGCAACCTCCCCAAATCACCC CCACTCTCTGCAACCTCCCCAAATCACCCCCACTCTCTGCAACCTCCCCA AATCACCCCCACTCTCTGCAACCTCCCCAAATCCCTCACACTGTGTGCAA CCTCCTCAAATCACCCTACTGTGTGCAACCTCCTCAAATCACCCCCACTG TGTGC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
TPO_chr2_1408463_1548673	1525594	A A	ACCTCCCC others(424): Show ACCTCCCCAAATCCCTCCCACTGTGTGCAGCCTCCCCAAATCCTCCCGAC TCTGTGCAACCTCCCAAAATTGCCCCCACTGTGTGCAACCTCCTCAAATC CCTCCCACTCTGTGCAAACTCCCCAAACCCCCACACTCTGTGCAACCGCC CCATATCCCCCCCACTCTGTGCAACCTCCCCAAAACACCCCTCAATGTGT GCAACCTCGCCCAATCACGACACTGTGTGCAATCTCCCCAAATCCCGCCC ACTCTTTGCAACCTCGCCAAATCCCCCCCACTCTCTGCAACCTCCCCAAA TCACCCCCACTCTCTGCAACCTCCCCAAATCACCCCCACTCTCTGCAACC TCCCCAAATCCCTCACACTGTGTGCAACCTCCTCAAATCACCCTACTGTG TGCAACCTCCTCAAATCACCCCCACTGTGTGC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0063 a0002c0002t0003g0063	1	130	0.0077	431	c.261 others(450): Show c.2618+8612_2618+8613insCCTCCCCAAATCCCTCCCACTGTGTG CAGCCTCCCCAAATCCTCCCGACTCTGTGCAACCTCCCAAAATTGCCCCC ACTGTGTGCAACCTCCTCAAATCCCTCCCACTCTGTGCAAACTCCCCAAA CCCCCACACTCTGTGCAACCGCCCCATATCCCCCCCACTCTGTGCAACCT CCCCAAAACACCCCTCAATGTGTGCAACCTCGCCCAATCACGACACTGTG TGCAATCTCCCCAAATCCCGCCCACTCTTTGCAACCTCGCCAAATCCCCC CCACTCTCTGCAACCTCCCCAAATCACCCCCACTCTCTGCAACCTCCCCA AATCACCCCCACTCTCTGCAACCTCCCCAAATCCCTCACACTGTGTGCAA CCTCCTCAAATCACCCTACTGTGTGCAACCTCCTCAAATCACCCCCACTG TGTGC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
TRARG1_chr17_1274662_1305978	1276785	T T	TCAAAAAA others(424): Show TCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAG TGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAG TGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTT TTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCCAG GCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCCAG GTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGT GCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGCAT TTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTGCC TGCCTTGCCTCCCAAAGTGCTGGGATTACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	402	0.0025	431	c.-32 others(442): Show c.-3217_-3216insCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTG TTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAA ACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTG GCTTGAAACCCAGTTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCT CTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCA ACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTT TAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTG GCCTCGTGATCTGCCTGCCTTGCCTCCCAAAGTGCTGGGATTACAGG	TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding		2876		chr17	TogoVar
TRARG1_chr17_1274662_1305978	1276785	T T	TCAAAAAA others(424): Show TCAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAGT GCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAGT GATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTTT TTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCCAGG CTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCCAGG TTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTG CGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGCATT TCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTGCCT GCCTTGGCCTCTCAAAGTGCTGGGATTACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	402	0.0025	431	c.-32 others(442): Show c.-3217_-3216insCAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGT TGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAA CTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGG CTTGAAACCCAGTTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCTC TCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAA CCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTT AGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGG CCTCGTGATCTGCCTGCCTTGGCCTCTCAAAGTGCTGGGATTACAGG	TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding		2876		chr17	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(424): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCTCCTCCCTTCC CCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTT CTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCT TCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTC TCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01175.hp2 others(3): Show HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01261.hp2 HG03710.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0169 a0001c0001t0001g0219 others(3): Show a0001c0001t0001g0093 a0001c0001t0001g0169 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222	6	334	0.0180	431	c.657 others(446): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCT TCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCT CCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCC C	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(424): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCTTCCTCCCTCCCCCCTTCTTC CCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCC CCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCC TCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTT CTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCT TCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTC TCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	334	0.0030	431	c.657 others(446): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCTTCCTC CCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCC CCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCC TTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCC CCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCT TCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCT CCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCC C	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTLL8_chr22_50013575_50063298	50022188	C C	CTCCTCCA others(424): Show CTCCTCCATCTGACGACGTGCACTCCTACATCTGACATGCACTCCTCCTT CTGACAATGTGTACTCCTCCATCTGATGTGCACTCCTCCATCTGACAATG TGCACTCCTCCATCTGATGCACACTCCTCCGACGACGTGCACTCCTCCAT CTGACAATGTGTACTCCTCCATCTGATGATGTGTACTACTCCATCTGACA ATGTGTACTCCTCCATCTGACATGCACTCCTCCATCTGACAATGTGTACT CCTCCATCTGATGATGTGTACTCCTCCATCTGACGTGTACTCCTCCATCT GACGTGCACTCCTCCATCTGACAATGTGTACTCCTCCATCTGACATGCAT TCCTCCATCTGACAATGTGCACTCCTCCATCTGATGTGCACGCCTCCATT TGACAATGTGTACTCCTCCATCTGATGCGCAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0127 a0002c0002t0002g0127	1	224	0.0045	431	c.225 others(450): Show c.2252-3398_2252-3397insATGCGCATCAGATGGAGGAGTACACA TTGTCAAATGGAGGCGTGCACATCAGATGGAGGAGTGCACATTGTCAGAT GGAGGAATGCATGTCAGATGGAGGAGTACACATTGTCAGATGGAGGAGTG CACGTCAGATGGAGGAGTACACGTCAGATGGAGGAGTACACATCATCAGA TGGAGGAGTACACATTGTCAGATGGAGGAGTGCATGTCAGATGGAGGAGT ACACATTGTCAGATGGAGTAGTACACATCATCAGATGGAGGAGTACACAT TGTCAGATGGAGGAGTGCACGTCGTCGGAGGAGTGTGCATCAGATGGAGG AGTGCACATTGTCAGATGGAGGAGTGCACATCAGATGGAGGAGTACACAT TGTCAGAAGGAGGAGTGCATGTCAGATGTAGGAGTGCACGTCGTCAGATG GAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50022188	C C	CTCCTCCA others(424): Show CTCCTCCATCTGACGACGTGCACTCCTACATCTGACATGCACTCCTCCTT CTGACAATGTGTACTCCTCCATCTGATGTGCACTCCTCCATCTGACAATG TGCACTCCTCCATCTGATGCACACTCCTCCGACGACGTGCACTCCTCCAT CTGACAATGTGTACTCCTCCATCTGATGATGTGTACTACTCCATCTGACA ATGTGTACTCCTCCATCTGACATGCACTCCTCCATCTGACAATGTGTACT CCTCCATCTGATGATGTGTACTCCTCCATCTGACGTGTACTCCTCCATCT GACGTGCACTCCTCCATCTGACAATGTGTACTCCTCCATCTGACATGCAT TCCTCCATCTGACAATGTGCACTCCTCCATCTGATGTGCACGCCTCCATT TGACAATGTGTACTCCTCCATCTGATGTGCAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0145 a0002c0002t0002g0145	1	224	0.0045	431	c.225 others(450): Show c.2252-3398_2252-3397insATGCACATCAGATGGAGGAGTACACA TTGTCAAATGGAGGCGTGCACATCAGATGGAGGAGTGCACATTGTCAGAT GGAGGAATGCATGTCAGATGGAGGAGTACACATTGTCAGATGGAGGAGTG CACGTCAGATGGAGGAGTACACGTCAGATGGAGGAGTACACATCATCAGA TGGAGGAGTACACATTGTCAGATGGAGGAGTGCATGTCAGATGGAGGAGT ACACATTGTCAGATGGAGTAGTACACATCATCAGATGGAGGAGTACACAT TGTCAGATGGAGGAGTGCACGTCGTCGGAGGAGTGTGCATCAGATGGAGG AGTGCACATTGTCAGATGGAGGAGTGCACATCAGATGGAGGAGTACACAT TGTCAGAAGGAGGAGTGCATGTCAGATGTAGGAGTGCACGTCGTCAGATG GAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870184	A A	ACCACACC others(424): Show ACCACACCCCATACACACCACACCCCACACACACCACACCCCATACACAC CACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACCCCATACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCATACACACCACA CCCCACACACACCACACCCCACACACACCACACACCCCACACACACCACA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACAAACCACACACACCACACACCCCACACACACCACACAAACCACACAC ACCACACACCCCACACACACCACACACCCCACACACACCACACACCCCAC ACACACCACACAAACCACACACACCACACACC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0307	1	338	0.0030	431	c.35 others(450): Show c.35+21452_*35+21453insCACACCCCATACACACCACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACCCCATACACACCACACCCCACACAC ACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACAC ACCACACCCCATACACACCACACCCCACACACACCACACCCCACACACAC CACACACCCCACACACACCACACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACACCACACAAACCACACACACCACACACCCCAC ACACACCACACAAACCACACACACCACACACCCCACACACACCACACACC CCACACACACCACACACCCCACACACACCACACAAACCACACACACCACA CACCC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
USP37_chr2_218445251_218573351	218557668	G G	GCTGTAAT others(424): Show GCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTCA AGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAA AATACAAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTA CTCGAGAGGCTGAGGCAGGAGGATGGTATGAACCCAGGAGGCAGGGTTTG CAGTAAGCCGAGATCACACCACCGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAACAAAACAAAAAGCAAAAAAACCCCATATATATAT ATATATGATCTTAAAGTGCAGAAAAACATAAAACATTATGTTCTTAACTT CAACTCATATCAAGATGAGTAACTTGGTTGCATAAGAGAAGCAATAAAGA AGTGAAAACAGGCTGGGCGCAGTGGCTCACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(97): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01496.hp2 HG01884.hp2 HG01943.hp1 HG01993.hp1 HG02027.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp2 HG02258.hp1 HG02280.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02922.hp1 HG03130.hp2 HG03239.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18943.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18981.hp1 NA18984.hp2 NA18987.hp2 NA18988.hp2 NA18998.hp1 NA19005.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0007 a0006c0005 others(1): Show a0001c0001 a0001c0007 a0006c0005 a0008c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0007t0020 a0006c0005t0001 a0006c0005t0027 a0008c0011t0001	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 others(97): Show a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0009g0142 a0001c0001t0009g0144 a0001c0001t0009g0145 a0001c0001t0009g0146 a0001c0001t0009g0147 a0001c0001t0028g0209 a0001c0001t0029g0247 a0001c0001t0030g0282 a0001c0007t0020g0210 a0001c0007t0020g0216 a0006c0005t0001g0231 a0006c0005t0027g0241 a0008c0011t0001g0253	100	282	0.3546	431	c.156 others(446): Show c.156+829_156+830insGTGTGAGCCACTGCGCCCAGCCTGTTTTCA CTTCTTTATTGCTTCTCTTATGCAACCAAGTTACTCATCTTGATATGAGT TGAAGTTAAGAACATAATGTTTTATGTTTTTCTGCACTTTAAGATCATAT ATATATATATATGGGGTTTTTTTGCTTTTTGTTTTGTTTTTTGAGACGGA GTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGTGTGATCTCGGCTTAC TGCAAACCCTGCCTCCTGGGTTCATACCATCCTCCTGCCTCAGCCTCTCG AGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCAGCTAATTTTTTGTA TTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CTTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACA G	USP37	ENSG00000135913.11	transcript	ENST00000258399.8	protein_coding	4/25			chr2	TogoVar
USP37_chr2_218445251_218573351	218557668	G G	GCTGTAAT others(424): Show GCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACATGGTCA AGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAA AATACAAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTA CTCGAGAGGCTGAGGCAGGAGGATGGTATGAACCCAGGAGGCAGGGTTTG CAGTAAGCCGAGATCACACCACCGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAACAAAACAAAAAGCAAAAAAACCCCATATATATAT ATATATGATCTTAAAGTGCAGAAAAACATAAAACATTATGTTCTTAACTT CAACTCATATCAAGATGAGTAACTTGGTTGCATAAGAGAAGCAATAAAGA AGTGAAAACAGGCTGGGCGCAGTGGCTCACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0143 a0001c0001t0009g0143	1	282	0.0036	431	c.156 others(446): Show c.156+829_156+830insGTGTGAGCCACTGCGCCCAGCCTGTTTTCA CTTCTTTATTGCTTCTCTTATGCAACCAAGTTACTCATCTTGATATGAGT TGAAGTTAAGAACATAATGTTTTATGTTTTTCTGCACTTTAAGATCATAT ATATATATATATGGGGTTTTTTTGCTTTTTGTTTTGTTTTTTGAGACGGA GTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGTGTGATCTCGGCTTAC TGCAAACCCTGCCTCCTGGGTTCATACCATCCTCCTGCCTCAGCCTCTCG AGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCAGCTAATTTTTTGTA TTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CTTGACCATGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACA G	USP37	ENSG00000135913.11	transcript	ENST00000258399.8	protein_coding	4/25			chr2	TogoVar
VPS53_chr17_503668_719839	510333	T T	TCGCCCCT others(424): Show TCGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCA CATATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCT CGCCCCTCACTAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCAC ATATCAAATCCTGGCTCGCCCCTCACTAGTCACATATCAAATCCTGTCTC ATCCCTCACTAGTCACATATCAAATCTTGGCTGACCCCTTACTAGTCACA TATCGAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTTG TCCCCTTGCTAGTCACGTATCAAATCCTGGCCGACCCCTTACTAGTCACA TATCGAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTTG TCCCCTTGCTAGTCACGTATCAAATCCTGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG04199.hp1 HG01070.hp2 HG01071.hp1 HG04199.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0131 a0002c0003t0140 a0002c0003t0145 a0002c0003t0131 a0002c0003t0140 a0002c0003t0145	a0002c0003t0131g0193 a0002c0003t0140g0194 a0002c0003t0145g0187 a0002c0003t0131g0193 a0002c0003t0140g0194 a0002c0003t0145g0187	3	232	0.0129	431	c.87 others(442): Show c.8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT GACTAGTGAGGGGCGAGCCAGGATTTGATATGTGACTAGTGAGGGGCGAG CCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTG ACTGGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGGCG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	8794		chr17	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(424): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTC CCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0017 a0001c0013t0001g0017	1	326	0.0031	431	c.483 others(446): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC TTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTC C	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCTTC others(424): Show CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCATTCCCCCTTCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCA CCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCTCCCTTTCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0225 a0001c0001t0004g0225	1	246	0.0041	431	c.-10 others(448): Show c.-10-3220_-10-3219insTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCGTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCC CATTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCTTCACCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CTTCCTCCCTTTCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(424): Show GATATATATCATATGTGATATATATGGTATATATGATATATATCATATAT ATCATATGTGATATATATGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATATAT GTCACATATATCATATGTGATATATGTCACATATATCATATGTGATATAT GTCACATATATCACATATATGATATATATCATATATATCATATATATGAT ATATATCATATATATCATATATATGATATATATCATATATCATATATATG ATATATATCACATATATATATCATATATATCACATATATATCATATATAT CATATATATATCATATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	350	0.0029	431	c.-35 others(442): Show c.-3503_-3502insATATATATCATATGTGATATATATGGTATATATG ATATATATCATATATATCATATGTGATATATATGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATATA TCATATGTGATATATGTCACATATATCACATATATGATATATATCATATA TATCATATATATGATATATATCATATATATCATATATATGATATATATCA TATATCATATATATGATATATATCACATATATATATCATATATATCACAT ATATATCATATATATCATATATATATCATATATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(424): Show GATATATATCATATGTGATATATATGGTATATATGATATATATCATATAT ATCATATGTGATATATATGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATACAT ATGACATATATCATATGTGATACATATGACATATATCATATGTGATATAT GTCACATATATCATATGTGATATATGTCACATATATCATATGTGATATAT GTCACATATATCACATGTGATATATATCATATATATCATATATATGATAT ATATCATATATATCATATATATGACATATATCATATATATCATATATATG ACATATATCACATATATATATCATATATATCACATATATATCATATATAT CATATATATATCATATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	350	0.0029	431	c.-35 others(442): Show c.-3503_-3502insATATATATCATATGTGATATATATGGTATATATG ATATATATCATATATATCATATGTGATATATATGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATACATATGACATATATCATATGTGATACATATGACATATA TCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATATA TCATATGTGATATATGTCACATATATCACATGTGATATATATCATATATA TCATATATATGATATATATCATATATATCATATATATGACATATATCATA TATATCATATATATGACATATATCACATATATATATCATATATATCACAT ATATATCATATATATCATATATATATCATATATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ABCB11_chr2_168915781_169036324	168975305	A A	ATAGATAA others(425): Show ATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT TTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAAT ATATCAATATATAAATATTTTTATATTTATAGATAAATATATCAATATAT AAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTAT ATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAA ATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATAT TTATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTAT ATTTATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT TTTTATATTTATAGATAAATATATAAATATTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	306	0.0033	432	c.130 others(451): Show c.1308+1271_1308+1272insAAAATATTTATATATTTATCTATAAA TATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATT TATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATATA TTTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATT TATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTATC TATAAATATAAAAATATTTATATATTGATATATTTATCTATAAATATAAA AATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTATATA TTGATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAA TATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATT TATCTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975362	T T	TATAAATA others(425): Show TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATA TAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02683.hp1 HG01515.hp1 HG02683.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0193 a0002c0003t0001g0194 a0002c0003t0001g0193 a0002c0003t0001g0194	2	306	0.0065	432	c.130 others(451): Show c.1308+1214_1308+1215insCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCT ATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTAT CTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975362	T T	TATAAATA others(425): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATA GATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATATATC AATATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATA AATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0132 a0001c0002t0004g0132	1	306	0.0033	432	c.130 others(451): Show c.1308+1214_1308+1215insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTT ATATATTGATATATTTATCTATAAATATAAAAATATTTATATATTGATAT ATTTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(425): Show GAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGGAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAA GAAAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGA GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAA GAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAA GAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0163 a0002c0002t0002g0163	1	376	0.0027	432	c.-11 others(443): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAGAAAG AAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG AGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAG AAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ACAP3_chr1_1287391_1312930	1289611	T T	TCCGTCCC others(425): Show TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	295	0.0034	432	c.39 others(443): Show c.3952_*3953insGGCAGAGACACGGGACGGGGCAGAGACACGGGGG ACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGA CACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGG CAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGGG CAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGG ACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2779		chr1	TogoVar
ACKR2_chr3_42804445_42872286	42823978	C C	CAAAACCC others(425): Show CAAAACCCAGTCAAGGATTAAGAAAATGTGGCACATATACACCATGGAAT ACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGG ATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAAC CAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCAC ATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGG GGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACAC GTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAA CCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAA AAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0062 a0001c0006t0006g0062	1	342	0.0029	432	c.-38 others(449): Show c.-38+4280_-38+4281insGGATTAAGAAAATGTGGCACATATACAC CATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAG GGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAA CAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAAT GAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGT GGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTA GATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATAT GTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAAT AAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCCAG TCAA	ACKR2	ENSG00000144648.16	transcript	ENST00000422265.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(425): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 NA19001.hp1 HG01358.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0001 a0001c0001t0001g0027	2	418	0.0048	432	c.-10 others(443): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATATAAATTTTTATATATGATATATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATG ATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATTTATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAA TTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar

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