Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(423): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGGAGGGGGTCAG GGAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGA AGAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGG GGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGA AGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGG AGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGA GGGGGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGA AGAGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	316	0.0032	430	c.583 others(445): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCC TCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTC TTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTC CCCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTC TTCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTC CCTGACCCCCTCCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCT CCTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
LGR6_chr1_202188799_202324761	202204692	C C	CCTAACAC others(423): Show CCTAACACACACCTCCTCCAAACACAAACCTCCAAACACACACACACCTC CAAACACACACACACCTAACACACACCTCCTCCAAACACACACACACTTC CAAACACACACACACCTCCAAACACACATACATCTCCAAACACACACACA CCTAACACACGCACCTAACACACACTTCCTTCAAACACACACACCTCCAA AGACACACACACACCTAACACACACCTCCTTCAAACACACACACCTAACA CACACCTCCTTCAAACACACACACACACCTCCAAACACACACACACCTAA CACACACCTCCTTCAAACACACACACACCTCCAAACACACACACCTAACA CACACCTCCTTCAAACACACACACACCTCTCCAAACACACACACACACCT AACACACCCCCCTTCAAACACACACACCTCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0021 a0021	a0021c0011 a0021c0011	a0021c0011t0004 a0021c0011t0004	a0021c0011t0004g0027 a0021c0011t0004g0027	1	262	0.0038	430	c.212 others(449): Show c.212+10492_212+10493insTAACACACACCTCCTCCAAACACAAA CCTCCAAACACACACACACCTCCAAACACACACACACCTAACACACACCT CCTCCAAACACACACACACTTCCAAACACACACACACCTCCAAACACACA TACATCTCCAAACACACACACACCTAACACACGCACCTAACACACACTTC CTTCAAACACACACACCTCCAAAGACACACACACACCTAACACACACCTC CTTCAAACACACACACCTAACACACACCTCCTTCAAACACACACACACAC CTCCAAACACACACACACCTAACACACACCTCCTTCAAACACACACACAC CTCCAAACACACACACCTAACACACACCTCCTTCAAACACACACACACCT CTCCAAACACACACACACACCTAACACACCCCCCTTCAAACACACACACC TCTC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124471486	A A	ATATATAT others(423): Show ATATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATA TTACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTAT ATATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATATTTATATATATTTATGTATA TTTATATATATTTATATATTTATGTATATATTTATATATATTTATATATT TATGTATAAATTTATATATATTTATATGTATTTATATATATTTATATGTA TTTATATATATTTATATATTTATATGTATTTATACATATATATTTATATG TATTTATATATATTTATATATATTTTTTATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02559.hp1 HG01891.hp2 HG02145.hp1 HG02559.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0005 a0001c0001t0001 a0003c0003t0005	a0001c0001t0001g0244 a0003c0003t0005g0255 a0003c0003t0005g0256 a0001c0001t0001g0244 a0003c0003t0005g0255 a0003c0003t0005g0256	3	260	0.0115	430	c.125 others(447): Show c.125+9502_125+9503insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTATATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATTTATATGTATTTATATATATTTATATATTTATATGTATTTA TACATATATATTTATATGTATTTATATATATTTATATATATTTTTTATGT AT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LTBP2_chr14_74493183_74617237	74564165	A A	ATATATAT others(423): Show ATATATATATATTTATATATATATTTATATATATATTTATATATATATAT TTATATATATATATTTATATATATATTTATATATATTTTTATATATATAT TTATATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATTTATATATATTTATATATATATTTATATATATATTTATATATAT TTATATATATTTATATATATATTTATATATATATTTATATATATTTATAT ATATTTATATATATTTTTATATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATTTATATATATATTTATATATATATT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0005 a0005	a0005c0058 a0005c0058	a0005c0058t0007 a0005c0058t0007	a0005c0058t0007g0276 a0005c0058t0007g0276	1	282	0.0036	430	c.831 others(447): Show c.831-8473_831-8472insAATATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATATAAATATATATATAAAAATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATATAAATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATAAATATATATATA TAAATATATATATAAAAATATATATAAATATATATATAAATATATATATA TAAATATATATATATAAATATATATATAAATATATATATAAATATATATA TA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
MAPKAP1_chr9_125432394_125712208	125458888	G G	GCGGGGTG others(423): Show GCGGGGTGCTGACCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCAGGCGGGGGGCTGACGCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCTGGCGGGGGACTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18962.hp1 NA18960.hp2 NA18962.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0001 a0003c0007t0001 a0001c0002t0001 a0003c0007t0001	a0001c0002t0001g0294 a0003c0007t0001g0224 a0001c0002t0001g0294 a0003c0007t0001g0224	2	300	0.0067	430	c.134 others(449): Show c.1345+9083_1345+9084insTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCAGGCCAGCCGCCCC ATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCTGGCCAGCCACCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCACCCCGCCCGGCCAGCCACCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGTCAGCAC CCCG	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	10/11			chr9	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(423): Show TATATATATAATTATAATATAATATAATTATATAATATATAATTTATATA TAATTATATATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATAATATAATTATATAATATATAATTTATATAT AATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATAATATAATTATATAATATATAATTTATATATAATATAA TTATATAATATATAATTTATATATAATATAATTATATAATATATAATTTA TATATAATATAATTATATAATATATAATTTATATATAATATAATTATATA ATATATAATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	430	c.-31 others(441): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATTATA TATAAATTATATATTATATAATTATATTATATATAAATTATATATTATAT AATTATATTATATATAAATTATATATTATATAATTATATTATATATAAAT TATATATTATATAATTATATTATATATAAATTATATATATATAATTATAT ATAAATTATATATTATATAATTATATTATATTATAATTATATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(423): Show TATATATATAATTATAATATAATATAATTATATAATATATAATTTATATA TAATTATATATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATAATATAATTATATAATATATAATTTATATAT TATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATAATATAATTATATAATATATAATTTATATATAATATAA TTATATAATATATAATTTATATATAATATAATTATATAATATATAATTTA TATATAATATAATTATATAATATATAATTTATATATAATATAATTATATA ATATATAATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01517.hp2 HG01192.hp2 HG01517.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0001 a0002c0002t0003g0031 a0001c0001t0001g0001 a0002c0002t0003g0031	2	288	0.0069	430	c.-31 others(441): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATAATA TATAAATTATATATTATATAATTATATTATATATAAATTATATATTATAT AATTATATTATATATAAATTATATATTATATAATTATATTATATATAAAT TATATATTATATAATTATATTATATATAAATTATATATATATAATTATAT ATAAATTATATATTATATAATTATATTATATTATAATTATATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(423): Show TATATATATAATTATAATATAATATAATTATATAATATATAATTTATATA TAATTATATATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATTATATAATTATATAATATATAATTTATATAT AATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATAATATAATTATATAATATATAATTTATATATAATATAA TTATATAATATATAATTTATATATAATATAATTATATAATATATAATTTA TATATAATATAATTATATAATATATAATTTATATATAATATAATTATATA ATATATAATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01952.hp2 HG02004.hp1 others(1): Show HG01192.hp1 HG01952.hp2 HG02004.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	288	0.0139	430	c.-31 others(441): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATTATA TATAAATTATATATTATATAATTATATAATATATAAATTATATATTATAT AATTATATTATATATAAATTATATATTATATAATTATATTATATATAAAT TATATATTATATAATTATATTATATATAAATTATATATATATAATTATAT ATAAATTATATATTATATAATTATATTATATTATAATTATATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(423): Show TATATATATAATTATAATATAATATAATTATATAATATATAATTTATATA TAATTATATATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATTATATAATTATATAATATATAATTTATATAT TATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATAATATAATTATATAATATATAATTTATATATAATATAA TTATATAATATATAATTTATATATAATATAATTATATAATATATAATTTA TATATAATATAATTATATAATATATAATTTATATATAATATAATTATATA ATATATAATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	288	0.0035	430	c.-31 others(441): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATAATA TATAAATTATATATTATATAATTATATAATATATAAATTATATATTATAT AATTATATTATATATAAATTATATATTATATAATTATATTATATATAAAT TATATATTATATAATTATATTATATATAAATTATATATATATAATTATAT ATAAATTATATATTATATAATTATATTATATTATAATTATATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(423): Show TATATATATAATTATAATATAATATAATTATATAATATATAATTTATATA TAATTATATATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATTATATAATTATA TAATATATAATTTATATATTATATAATTATATAATATATAATTTATATAT AATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATAATATAATTATATAATATATAATTTATATATAATATAA TTATATAATATATAATTTATATATAATATAATTATATAATATATAATTTA TATATAATATAATTATATAATATATAATTTATATATAATATAATTATATA ATATATAATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	430	c.-31 others(441): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATTATA TATAAATTATATATTATATAATTATATAATATATAAATTATATATTATAT AATTATATAATATATAAATTATATATTATATAATTATATTATATATAAAT TATATATTATATAATTATATTATATATAAATTATATATATATAATTATAT ATAAATTATATATTATATAATTATATTATATTATAATTATATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
METRNL_chr17_83074609_83100122	83090493	C C	CCCACACA others(423): Show CCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCC CGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCCACCCCCCGCCC CAGGGTGGGAACCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACA CACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCC CGCCCCAGGGTGGGAACCACACACCCCCGCCCTGCCCCAGGGTGGGAGCC ACACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCA CCCCCCGCCCCAGGGTGGGAACCACACACCCCCGCCCTGCCCCAGGGTGG GAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACAC ACACCCCCCACCCCCCGCCCCAGGGTGGGAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	399	0.0025	430	c.557 others(447): Show c.557-2651_557-2650insGCCCCAGGGTGGGAGCCACACACCCCCG CCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCCACCCCCCGCCCCA GGGTGGGAACCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACA CCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCG CCCCAGGGTGGGAACCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCAC ACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCACC CCCCGCCCCAGGGTGGGAACCACACACCCCCGCCCTGCCCCAGGGTGGGA GCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACAC ACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACACACCCCCGCC CC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(423): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18973.hp2 NA18941.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0116 a0001c0001t0004g0202 a0001c0001t0004g0116 a0001c0001t0004g0202	2	390	0.0051	430	c.112 others(447): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATA TA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735557	A A	ATAGGCAG others(423): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0239 a0001c0001t0004g0239	1	390	0.0026	430	c.112 others(447): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT AT	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7			chr1	TogoVar
MGRN1_chr16_4619826_4695972	4648839	C C	CGGGACTC others(423): Show CGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGACTCTTCCCG TGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTC CTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGGC TCTTCCCGTGGTCACCCGGCTCCTCCTCTCGGGGACTCTTCCCGTGGTCA CCCGGGTCCTCCTCCCGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTCC CGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCTCGGGGACTCTTCCC GTGGTCACCCGGGTCCTCCTCCCGGGGACTCTTCCCGTGGTCACCCGGGT CCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGAC TCTTCCCGTGGTCACCCGGCTCCTCCTCTCG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	334	0.0030	430	c.89- others(445): Show c.89-1523_89-1522insACTCTTCCCGTGGTCACCCGGCTCCTCCTC CCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCC CGTGGTCACCCGGCTCCTCCTCTCGGGGACTCTTCCCGTGGTCACCCGGG TCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCTCGGGG ACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGACTCTTCCCGTGGTC ACCCGGCTCCTCCTCCCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCT CTCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGACTCTTC CCGTGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGG GTCCTCCTCCCGGGACTCTTCCCGTGGTCACCCGGCTCCTCCTCTCGGGG	MGRN1	ENSG00000102858.13	transcript	ENST00000262370.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MMACHC_chr1_45495300_45518382	45497643	C C	CGCCACCC others(423): Show CGCCACCCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCG TCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAG GAGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGAGGAGCGCCTCT TCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGC CCATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAA AGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGACGAGC GCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCC GGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAGCCGCCCCG TATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	386	0.0026	430	c.-26 others(441): Show c.-2690_-2689insGCCACCCCCGTCTGGGAAGTGAGGAGCGTCTCTG CCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCC AGTCTGGAAAGTGAGGAGCATCTCTGCCCGGCCGCCATCCCATCTGGGAA GTGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCG TCTCTGCCCGGCCGCCCATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGG CTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATC TGGGAAGTGACGAGCGCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGA GGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGC CCGGCAGCCGCCCCGTATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2656		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497643	C C	CGCCACCC others(423): Show CGCCACCCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCG TCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAG GAGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGAGGAGCGCCTCT TCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGC CCATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAA AGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGACGAGC GCCTCTGCCCGGCCGCCACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCC GGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAGCCGCCCCG TATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02004.hp1 HG02148.hp1 others(3): Show HG01433.hp2 HG02004.hp1 HG02148.hp1 HG02615.hp2 HG04184.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0010 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0010 a0001c0002t0037 a0001c0002t0065	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0002t0001g0022 others(3): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0002t0001g0022 a0001c0002t0010g0001 a0001c0002t0037g0001 a0001c0002t0065g0001	6	386	0.0155	430	c.-26 others(441): Show c.-2690_-2689insGCCACCCCCGTCTGGGAAGTGAGGAGCGTCTCTG CCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCC AGTCTGGAAAGTGAGGAGCATCTCTGCCCGGCCGCCATCCCATCTGGGAA GTGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCG TCTCTGCCCGGCCGCCCATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGG CTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATC TGGGAAGTGACGAGCGCCTCTGCCCGGCCGCCACCCCGTCTGGGAGGTGA GGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGC CCGGCAGCCGCCCCGTATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2656		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497643	C C	CGCCACCC others(423): Show CGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGT CTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGG AGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGAGGAGCGCCTCTT CCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCC CATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAA GTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGACGAGCG CCTCTGCCCGGCCGCCACCCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCC GGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAGCCGCCCCG TATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00642.hp2 HG01106.hp2 others(14): Show HG00544.hp1 HG00642.hp2 HG01106.hp2 HG02055.hp1 HG02300.hp2 HG02615.hp1 HG02738.hp2 HG03098.hp1 HG03942.hp1 NA18963.hp2 NA18972.hp2 NA19000.hp1 NA19005.hp1 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 others(8): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0001t0016 a0001c0001t0023 a0001c0001t0025 a0001c0002t0001 a0001c0002t0011 a0001c0005t0076 a0002c0003t0021 a0002c0003t0071	a0001c0001t0002g0003 a0001c0001t0002g0105 a0001c0001t0006g0107 others(11): Show a0001c0001t0002g0003 a0001c0001t0002g0105 a0001c0001t0006g0107 a0001c0001t0015g0002 a0001c0001t0015g0003 a0001c0001t0016g0094 a0001c0001t0023g0007 a0001c0001t0025g0077 a0001c0002t0001g0001 a0001c0002t0001g0065 a0001c0002t0011g0001 a0001c0005t0076g0083 a0002c0003t0021g0008 a0002c0003t0071g0008	17	386	0.0440	430	c.-26 others(441): Show c.-2690_-2689insGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGC CTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCA GTCTGGAAAGTGAGGAGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAG TGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGT CTCTGCCCGGCCGCCCATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGC TGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCT GGGAAGTGACGAGCGCCTCTGCCCGGCCGCCACCCCCGTCTGGGAGGTGA GGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGC CCGGCAGCCGCCCCGTATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2656		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497643	C C	CGCCACCC others(423): Show CGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGT CTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGG AGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGAGGAGCGCCTCTT CCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCC CATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAA GTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTGGGAAGTGACGAGCG CCTCTGCCTGGCCGCCACCCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCC GGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGCCCGGCAGCCGCCCCG TATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0014 a0003c0004t0001g0014	1	386	0.0026	430	c.-26 others(441): Show c.-2690_-2689insGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGC CTGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCA GTCTGGAAAGTGAGGAGCATCTCTGCCCGGCCGCCATCCCATCTGGGAAG TGAGGAGCGCCTCTTCCCGGCCGCCATCACATCTAGGAAGTGAGGAGCGT CTCTGCCCGGCCGCCCATCGTCTGGGATGTGGGGAGCCCCTCTGCCTGGC TGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCT GGGAAGTGACGAGCGCCTCTGCCTGGCCGCCACCCCCGTCTGGGAGGTGA GGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCCGC CCGGCAGCCGCCCCGTATGAGAAGTGAGGAGCCTCTCCGCCCGGCA	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2656		chr1	TogoVar
MPPED1_chr22_43407014_43512848	43475478	G G	GGTGATAA others(423): Show GGTGATAATGGTGATGGTGGTGATGGTGATGATGGTGATGCTGATGGTAT AGTGATGATGATGGTGATAATGGGGATGATGGTGATGGTGATTATGGTGA TGTTGATAATGGTGGTGATGGTGGCAATGTTGGTGATGATGGTAATGATA ATGGTGGTGGGAATGATGATGGTAAGGTAATGACAATGATGAGGGTGATG GTGGTGGTGGTATGATCATAATAGTGAGGGTGGTGATGGTGATGGTGATG ATGATGATTGCGATGGTGGTGATGATGGTGATGATGATGGTTGTGGTGAT GGTGGTGGTGTGATGATGGTGAGGGTAGTGATGGTGATAATGATGGTGAT GATGGTGGTGTGATGATGGTGAGGGTAGTGATAGTGATAATGATGGTGAT GGTGGTGATGCTGATGGTGATGATGATGATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02572.hp2 others(2): Show HG02055.hp2 HG02257.hp1 HG02572.hp2 HG02622.hp2 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0020 a0001c0007t0002 a0001c0007t0008 a0001c0003t0020 a0001c0007t0002 a0001c0007t0008	a0001c0003t0020g0031 a0001c0007t0002g0198 a0001c0007t0002g0203 others(2): Show a0001c0003t0020g0031 a0001c0007t0002g0198 a0001c0007t0002g0203 a0001c0007t0002g0206 a0001c0007t0008g0069	5	250	0.0200	430	c.632 others(445): Show c.632+522_632+523insAATGGTGATGGTGGTGATGGTGATGATGGT GATGCTGATGGTATAGTGATGATGATGGTGATAATGGGGATGATGGTGAT GGTGATTATGGTGATGTTGATAATGGTGGTGATGGTGGCAATGTTGGTGA TGATGGTAATGATAATGGTGGTGGGAATGATGATGGTAAGGTAATGACAA TGATGAGGGTGATGGTGGTGGTGGTATGATCATAATAGTGAGGGTGGTGA TGGTGATGGTGATGATGATGATTGCGATGGTGGTGATGATGGTGATGATG ATGGTTGTGGTGATGGTGGTGGTGTGATGATGGTGAGGGTAGTGATGGTG ATAATGATGGTGATGATGGTGGTGTGATGATGGTGAGGGTAGTGATAGTG ATAATGATGGTGATGGTGGTGATGCTGATGGTGATGATGATGATAGTGAT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(423): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18973.hp1 NA18941.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0004 a0001c0001t0003g0015	2	364	0.0055	430	c.18 others(441): Show c.1842_*1843insATATATATATTTTTTTTTTTTTTTTTTTTTTTTT TGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCACAATC TCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCCCAGCTAA TTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATGTTCACCAGGATG GTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCCAAATATA TATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGCAGCAGGG CAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCACCTCAGCC TCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCCTAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735557	A A	ATAGGCAG others(423): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	364	0.0028	430	c.18 others(441): Show c.1840_*1841insATATATATATATTTTTTTTTTTTTTTTTTTTTTT TTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGCACAAT CTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACGCCCAGCTA ATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATGTTCACCAGGAT GGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATCCCAAATAT ATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGAGCAGCAGG GCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCCACCTCAGC CTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTGCCTA	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1745		chr1	TogoVar
MTTP_chr4_99569824_99628997	99588815	A A	ACATATAT others(423): Show ACATATATATGTTCACATATATACTCATATATATATGTTCACATATATAT TCATATATATGTTCACATATATATTCATATATATGTTCACATATATATTC ATATATATGTTCACATATATATTCATATATATATGTTCACATATATATTC ATATATATGTTCACATATATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATGC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0003 a0014c0018t0003	a0014c0018t0003g0320 a0014c0018t0003g0320	1	364	0.0028	430	c.394 others(445): Show c.394-819_394-818insGTTCACATATATACTCATATATATATGTTC ACATATATATTCATATATATGTTCACATATATATTCATATATATGTTCAC ATATATATTCATATATATGTTCACATATATATTCATATATATATGTTCAC ATATATATTCATATATATGTTCACATATATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATGCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MUSK_chr9_110663791_110811558	110690669	T T	TATATATA others(423): Show TATATATATTTATATATAAGTATATATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATTTATATATAAGTA TATATAAATATATATATTTATATATAAGTGTATATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTATATATAAGTATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATATA TTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATA AATATATATTTAAATATAAGTATATATATAA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18978.hp1 NA18975.hp1 NA18978.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0062 a0004c0006t0004g0123 a0004c0006t0004g0062 a0004c0006t0004g0123	2	326	0.0061	430	c.358 others(447): Show c.358+3412_358+3413insTATATAAGTATATATATATATATTTATA TATAAGTATATATATATATTTATATATAAGTATATATATATATTTATATA TAAGTATATATATAAATATATATATTTATATATAAGTATATATATATTTA TATATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTATATATAAGTATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTAAATATAAGTATATATA AATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATAAATATATATTTAAATATAAGTATATATATAAATATATATT TA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690669	T T	TATATATA others(423): Show TATATATATTTATATATAAGTATATATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATTTATATATAAGTA TATATAAATATATATATTTATATATAAGTGTATATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTATATATAAGTATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTATATATAAGTATATATAAATATATATA TTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATA AATATATATTTAAATATAAGTATATATATAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0122	1	326	0.0031	430	c.358 others(447): Show c.358+3412_358+3413insTATATAAGTATATATATATATATTTATA TATAAGTATATATATATATTTATATATAAGTATATATATATATTTATATA TAAGTATATATATAAATATATATATTTATATATAAGTATATATATATTTA TATATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTATATATAAGTATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTATATATAAGTATATATA AATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATAAATATATATTTAAATATAAGTATATATATAAATATATATT TA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NFATC1_chr18_79390930_79534323	79494325	A A	ACGGCCGG others(423): Show ACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGC GGCCGGGGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTACGG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCC GGGGGAAGGCGAGAGCGGGCACGCCCCCCATGAACCTGGTGCGGCCGGGG GAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGA AGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAG GCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACGGCCGGGGGAAGGC GAGAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGA GAGCGGGCACACGCCCCCCATCGACCTGGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0133 a0001c0005t0009g0133	1	322	0.0031	430	c.278 others(449): Show c.2782+7426_2782+7427insGAACCTGGTGCGGCCGGGGGAAGGCG AGAACGGGCACACGCCCCCCATCAACCTGGTACGGCCGGGGGAAGGCGAG AGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAG CGGGCACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGG CACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCA CACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACA CGCCCCCCATCGACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACG CCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCC CCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCC CCAT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFILZ_chr19_8625633_8686151	8678103	A A	ATCCATTC others(423): Show ATCCATTCTTCCATCCACCCATTCATTAGTTTATCCATCCTCACCCATCC ACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCATCCATCCATCCATCCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0340 a0001c0001t0094g0340	1	366	0.0027	430	c.47 others(439): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCC ATCCATCCGTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCA TCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATC CATCCATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCC ATTCATTAGTTTATCCATCCCCATCCATCCATCCATCCGTCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NOC4L_chr12_132139457_132157468	132149842	C C	CACCACAC others(423): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCTGCCTCACTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	294	0.0034	430	c.901 others(445): Show c.901+989_901+990insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCTGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150175	C C	CGCCGCCT others(423): Show CGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGG CCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA TACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	294	0.0034	430	c.902 others(445): Show c.902-789_902-788insCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NPBWR2_chr20_64098802_64112565	64105725	G G	GATGGTGG others(423): Show GATGGTGGGCGTGATGATGGGGGTGGGGGGGGTGGGCCTGATGGGGGTGT GGGCATGATGATGATGGGCGTGATGATGATGGGGGGTGATGATGGGCATG ATGATGGGCGTGATGATAGGGGTGGTGGTGGGGGTGATGGTGGGCGTGAT GATGGGGGTGGGGGGGGTGGGCCTGATGGGGGTGTGGGCATGATGATGAT GGGCGTGATGATGATGGGGGGTGATGATGGGCATGATGATGGGCGTGATG ATAGGGGTGATGGTGGGGGGTGATGGTGGGCGTGATGATGGGGGTGGGGG GGGGTGGGCCTGATGGGGGTGTGGGCATGATGATGATGGGCGTGATGATG ATGGGGGGTGATGATGGGCATGATGATGGGCGTGATGATAGGGGTGATGG TGGGGGTGATGGTGGGCGTGATGATGGGGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0110 a0001c0008t0110	a0001c0008t0110g0047 a0001c0008t0110g0047	1	355	0.0028	430	c.10 others(439): Show c.104_*105insACCCCCATCATCACGCCCACCATCACCCCCACCATC ACCCCTATCATCACGCCCATCATCATGCCCATCATCACCCCCCATCATCA TCACGCCCATCATCATCATGCCCACACCCCCATCAGGCCCACCCCCCCCC ACCCCCATCATCACGCCCACCATCACCCCCCACCATCACCCCTATCATCA CGCCCATCATCATGCCCATCATCACCCCCCATCATCATCACGCCCATCAT CATCATGCCCACACCCCCATCAGGCCCACCCCCCCCACCCCCATCATCAC GCCCACCATCACCCCCACCACCACCCCTATCATCACGCCCATCATCATGC CCATCATCACCCCCCATCATCATCACGCCCATCATCATCATGCCCACACC CCCATCAGGCCCACCCCCCCCACCCCCATCATCACGCCCACCAT	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	104		chr20	TogoVar
NXN_chr17_794310_984776	949337	G G	GGCCTCCT others(423): Show GGCCTCCTACTCTCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCCTGCCTCCTCCTCTCCCCCGGCCTCCTCCTCTCCCCCCG GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCT CCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCC CCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTACTCTCCCCGCGGCCTCCT CCTCTCCCCCCTGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	242	0.0041	430	c.360 others(449): Show c.360+29981_360+29982insAGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCCGCGGGGAGAGTAGGAGGCCGCGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGG AGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCA GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCCGGGGGGAGAGGAGGAGGCCGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGAGAGTAGG AGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
P2RY8_chrX_1457581_1542185	1514484	T T	TCCCTTTC others(423): Show TCCCTTTCCTCCCCTCCCTTCCCTTTCTTTTCCTTTCCCTTCCCTTCCCC TTCCTCCCCTCCTTTCCCTTCCTTCCCTTCCTCCTTCCCTTCCTTCCCTT CCCTTCCCTTCCTCTTCCCTTCCCTTCCCTTCCTTCCCCTTCCCTTCCCC CCTTCCTTCCTTCCGTCCCTTCCTTCCCTCCTTCCTTCCTCCCTTCCTCC CCTCCTTTCCCTTCCCTTCCCTTCCTTTCCTTCCCTTCCTTCCCTTCCCT TCCCTTCCCCTTCCTTCCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTCCC TTCCCTTCCTTCCTTCCCCTTCCTTCCCTTCCTCCCTTCCTCCCCCCTTC CCTTCCCTGTCCCTTCCCTTCCTTCCCTTCCTTCCCTTCCCTTCCTTCCC TCCCTTCCCTTCCTTCCATCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0028	1	114	0.0088	430	c.-25 others(449): Show c.-25+22436_-25+22437insGGGAAGGGAAGGATGGAAGGAAGGGA AGGGAGGGAAGGAAGGGAAGGGAAGGAAGGGAAGGAAGGGAAGGGACAGG GAAGGGAAGGGGGGAGGAAGGGAGGAAGGGAAGGAAGGGGAAGGAAGGAA GGGAAGGGAGGAAGGGAAGGAAGGAAGGGAAGGAAGGGGAAGGAAGGGGA AGGGAAGGGAAGGGAAGGAAGGGAAGGAAAGGAAGGGAAGGGAAGGGAAA GGAGGGGAGGAAGGGAGGAAGGAAGGAGGGAAGGAAGGGACGGAAGGAAG GAAGGGGGGAAGGGAAGGGGAAGGAAGGGAAGGGAAGGGAAGAGGAAGGG AAGGGAAGGGAAGGAAGGGAAGGAGGAAGGGAAGGAAGGGAAAGGAGGGG AGGAAGGGGAAGGGAAGGGAAAGGAAAAGAAAGGGAAGGGAGGGGAGGAA AGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(423): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTAATACATATATAACATATATGTATTACATA TATGTAATACATATATAACATGTATTACATATATGTAATACATATATAAC ATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	400	0.0025	430	c.70 others(441): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTAATACATATATAACA TATATGTATTACATATATGTAATACATATATAACATGTATTACATATATG TAATACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(423): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTAATACATATATAACATATATGTATTACATA TATGTAATACATATATAATATGTATTACATATATGTAATACATATATAAC ATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	400	0.0025	430	c.70 others(441): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTAATACATATATAACA TATATGTATTACATATATGTAATACATATATAATATGTATTACATATATG TAATACATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(423): Show TTTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	262	0.0038	430	c.129 others(447): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAAAAGATCTATTCTG AA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(423): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATA GATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	262	0.0038	430	c.129 others(447): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(423): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18939.hp1 NA18956.hp2 others(1): Show HG03239.hp2 NA18939.hp1 NA18956.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0077 a0001c0001t0001g0103 a0001c0001t0002g0088 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0103 a0001c0001t0002g0088 a0001c0002t0001g0212	4	262	0.0153	430	c.129 others(447): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(423): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATA GATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp1 HG03453.hp1 HG02647.hp1 HG03209.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0019 a0001c0003 a0001c0019	a0001c0003t0003 a0001c0003t0004 a0001c0019t0003 a0001c0003t0003 a0001c0003t0004 a0001c0019t0003	a0001c0003t0003g0079 a0001c0003t0004g0251 a0001c0019t0003g0245 a0001c0003t0003g0079 a0001c0003t0004g0251 a0001c0019t0003g0245	3	262	0.0115	430	c.129 others(447): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PEX26_chr22_18072990_18110396	18106374	C C	CGTGGTTC others(423): Show CGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTG GTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGT TTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGGTTCCA GTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTTCCAGT CTGAGTCTGAAGCCGGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCT GAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATACATAGTTCCAGTCGGA GTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAAT CTGAAGCCCGAGACCCAGGAGAGCTGATGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19080.hp1 NA19081.hp2 NA19057.hp2 NA19080.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0118 a0001c0001t0022 a0001c0001t0118	a0001c0001t0022g0003 a0001c0001t0118g0003 a0001c0001t0022g0003 a0001c0001t0118g0003	3	398	0.0075	430	c.18 others(443): Show c.18299_*18300insGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACC CACGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA CGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGG AGAGCTGAAGATGTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAG CTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCT AAGGACATGGTTCCAGTCTGAGTCTGAAGCCGGAGACCCAGGAGAGCTGA TGGTGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAT ACATAGTTCCAGTCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGGAC ATGGTTCCAGTCTGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT	PEX26	ENSG00000215193.14	transcript	ENST00000399744.8	protein_coding		979		chr22	TogoVar
PEX26_chr22_18072990_18110396	18106374	C C	CGTGGTTC others(423): Show CGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTG GTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGT TTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGGTTCCA GTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTTCCAGT CTGAGTCTGAAGCCGGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCT GAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGTAGTTCCAGTCGGA GTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAAT CTGAAGCCCGAGACCCAGGAGAGCTGATGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(125): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02602.hp2 HG02886.hp2 HG03239.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04228.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18952.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18962.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19078.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(68): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0022 a0001c0001t0039 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0098 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0104 a0001c0001t0109 a0001c0001t0110 a0001c0001t0112 a0001c0001t0113 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 a0001c0001t0158 a0001c0001t0160 a0001c0001t0161 a0001c0001t0165 a0001c0001t0166 a0001c0001t0174 a0001c0001t0180 a0001c0001t0185 a0001c0001t0191 a0001c0001t0194 a0001c0001t0198 a0001c0001t0199 a0001c0001t0200	a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0016 others(100): Show a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0076 a0001c0001t0002g0111 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0001t0003g0022 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0089 a0001c0001t0003g0106 a0001c0001t0003g0109 a0001c0001t0007g0002 a0001c0001t0007g0019 a0001c0001t0007g0020 a0001c0001t0007g0066 a0001c0001t0007g0068 a0001c0001t0007g0069 a0001c0001t0011g0003 a0001c0001t0011g0101 a0001c0001t0014g0004 a0001c0001t0014g0022 a0001c0001t0014g0023 a0001c0001t0014g0107 a0001c0001t0018g0009 a0001c0001t0022g0003 a0001c0001t0039g0103 a0001c0001t0039g0108 a0001c0001t0043g0016 a0001c0001t0043g0018 a0001c0001t0044g0002 a0001c0001t0045g0002 a0001c0001t0045g0070 a0001c0001t0049g0009 a0001c0001t0051g0046 a0001c0001t0052g0041 a0001c0001t0098g0072 a0001c0001t0100g0073 a0001c0001t0101g0002 a0001c0001t0102g0105 a0001c0001t0104g0097 a0001c0001t0109g0007 a0001c0001t0110g0035 a0001c0001t0112g0022 a0001c0001t0113g0099 a0001c0001t0115g0100 a0001c0001t0116g0037 a0001c0001t0117g0003 a0001c0001t0119g0003 a0001c0001t0120g0023 a0001c0001t0121g0034 a0001c0001t0122g0007 a0001c0001t0123g0007 a0001c0001t0124g0007 a0001c0001t0125g0007 a0001c0001t0126g0104 a0001c0001t0127g0023 a0001c0001t0128g0004 a0001c0001t0134g0022 a0001c0001t0135g0023 a0001c0001t0136g0004 a0001c0001t0137g0074 a0001c0001t0138g0019 a0001c0001t0139g0018 a0001c0001t0140g0002 a0001c0001t0141g0016 a0001c0001t0142g0002 a0001c0001t0143g0030 a0001c0001t0144g0098 a0001c0001t0145g0020 a0001c0001t0146g0018 a0001c0001t0147g0017 a0001c0001t0148g0152 a0001c0001t0149g0019 a0001c0001t0150g0002 a0001c0001t0151g0016 a0001c0001t0152g0031 a0001c0001t0153g0002 a0001c0001t0154g0018 a0001c0001t0155g0002 a0001c0001t0158g0075 a0001c0001t0160g0020 a0001c0001t0161g0153 a0001c0001t0165g0086 a0001c0001t0166g0034 a0001c0001t0174g0002 a0001c0001t0180g0002 a0001c0001t0185g0009 a0001c0001t0191g0009 a0001c0001t0194g0002 a0001c0001t0198g0042 a0001c0001t0199g0028 a0001c0001t0200g0141	128	398	0.3216	430	c.18 others(443): Show c.18299_*18300insGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACC CACGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA CGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGG AGAGCTGAAGATGTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAG CTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCT AAGGACATGGTTCCAGTCTGAGTCTGAAGCCGGAGACCCAGGAGAGCTGA TGGTGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAT ACGTAGTTCCAGTCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGGAC ATGGTTCCAGTCTGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT	PEX26	ENSG00000215193.14	transcript	ENST00000399744.8	protein_coding		979		chr22	TogoVar
PEX26_chr22_18072990_18110396	18106374	C C	CGTGGTTC others(423): Show CGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAGCTGAAGACGTG GTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGT TTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGACGTGGTTCCA GTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCTAAGGACATGGTTCCAGT CTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCT GAGTCTGAAGCCTGAGACCCAGGAGAGCTGAATACGTAGTTCCAGTCGGA GTCTGAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAAT CTGAAGCCCGAGACCCAGGAGAGCTGATGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	398	0.0025	430	c.18 others(443): Show c.18299_*18300insGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACC CACGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCA CGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGG AGAGCTGAAGATGTGGTTTCAGTCTGTCTGAAGCCTGAGACCCAGGAGAG CTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGATCCAGGAGAGCT AAGGACATGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGA TGGTGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAT ACGTAGTTCCAGTCGGAGTCTGAAGCCTGAGATCCAGGAGAGCTGAGGAC ATGGTTCCAGTCTGAATCTGAAGCCCGAGACCCAGGAGAGCTGATGGT	PEX26	ENSG00000215193.14	transcript	ENST00000399744.8	protein_coding		979		chr22	TogoVar
PKP3_chr11_389209_409908	401841	A A	ACCCCCGA others(423): Show ACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACAC CCGACCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGAC CCGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCT CACCCCGGACCCTGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCA CACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCG GGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGAC CCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGC TCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCAC ACCCGCCCCGCTCACCCCGGACCCCGCTCAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0142 a0001c0002t0001g0142	1	216	0.0046	430	c.173 others(449): Show c.1737+1140_1737+1141insCGACCCGCTCACCCCCGACCCGCTCA CCCCGGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACACC CGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCC CGCTCACCCCCGACCCGCTCACCCCGGACCCTGCTCACACCGGACCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCAC CCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCC GGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCC CCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCT CACCCGGGACCCCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCAC CCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRKCA_chr17_66297613_66815743	66799580	G G	GTGGTGGT others(423): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0025 a0001c0001t0007g0025	1	178	0.0056	430	c.185 others(449): Show c.1855-4291_1855-4290insGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GATG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PWWP3A_chr19_1349959_1383429	1368918	C C	CCAGCCCA others(423): Show CCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCC AAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCCAAGCCAT CGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCCAAGCCATCGGGTCC CCGGTGCCCACCTGCGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGTGC CCACCTGCGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTG CGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAG ACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCC CAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCCAAGCCA TCGGGTCCCCGGTGCCCACCTGCGTTCAGAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0292 a0001c0001t0004g0292	1	412	0.0024	430	c.142 others(447): Show c.1423-305_1423-304insCCAGCCCAAGCCATCGGGTCCCCGGTGC CCACCTGCGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTG CGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAG ACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCC CAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCCAAGCCA TCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCCAAGCCATCGGGTC CCCGGTGCCCACCTGCGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGTG CCCACCTGCGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCT GCGTTCAGATCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCA GA	PWWP3A	ENSG00000160953.17	transcript	ENST00000591337.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
RAB11FIP3_chr16_420649_528011	468230	G G	GGGAGGAG others(423): Show GGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGC TGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTC AGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAG GAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCTGGGGCATCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAG GGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGTGCAGGGGCGTCAGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00609.hp1 others(38): Show HG00323.hp1 HG00544.hp2 HG00609.hp1 HG00642.hp2 HG01070.hp2 HG01981.hp1 HG02027.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02559.hp1 HG02735.hp2 HG02738.hp2 HG03669.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18957.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18973.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18990.hp2 NA18994.hp1 NA19004.hp1 NA19012.hp1 NA19054.hp2 NA19074.hp1 NA19080.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0013	a0001c0001 a0001c0002 a0001c0011 others(3): Show a0001c0001 a0001c0002 a0001c0011 a0002c0003 a0009c0009 a0013c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0029 a0001c0001t0034 a0001c0001t0045 a0001c0001t0046 a0001c0002t0005 a0001c0011t0002 a0002c0003t0007 a0009c0009t0003 a0013c0020t0005	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0140 others(38): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0140 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0078 a0001c0001t0003g0076 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0202 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0216 a0001c0001t0003g0235 a0001c0001t0003g0252 a0001c0001t0003g0260 a0001c0001t0004g0018 a0001c0001t0004g0074 a0001c0001t0005g0014 a0001c0001t0007g0016 a0001c0001t0007g0047 a0001c0001t0007g0048 a0001c0001t0007g0134 a0001c0001t0007g0137 a0001c0001t0007g0237 a0001c0001t0008g0071 a0001c0001t0008g0077 a0001c0001t0008g0148 a0001c0001t0011g0132 a0001c0001t0029g0020 a0001c0001t0034g0208 a0001c0001t0045g0138 a0001c0001t0046g0131 a0001c0002t0005g0079 a0001c0011t0002g0019 a0002c0003t0007g0095 a0002c0003t0007g0096 a0009c0009t0003g0130 a0013c0020t0005g0013	41	295	0.1390	430	c.809 others(447): Show c.809-3058_809-3057insATGCTGGGACGTCAGGGAGGAGGTCCTT GGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGA GGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCA GGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGG GCGTCAGGGAGGAGGTGCTGGGGCATCAGGGAGGAGGTGCTGGGGCGTCA GGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGG AGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGG AG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468230	G G	GGGAGGAG others(423): Show GGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGC TGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTC AGGGAGGAGGTGCTGGGGTGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAG GAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCTGGGGCATCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAG GGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGTGCAGGGGCGTCAGGGA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0139 a0001c0001t0047g0139	1	295	0.0034	430	c.809 others(447): Show c.809-3058_809-3057insATGCTGGGACGTCAGGGAGGAGGTCCTT GGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGA GGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGTGTCAGGGAGGAGGTGCA GGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGG GCGTCAGGGAGGAGGTGCTGGGGCATCAGGGAGGAGGTGCTGGGGCGTCA GGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGG AGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGG AG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492363	T T	TCCCGGGG others(423): Show TCCCGGGGGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCC GTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGG AGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGA GCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAG GCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0157 a0001c0002t0002g0157	1	295	0.0034	430	c.126 others(449): Show c.1265+3369_1265+3370insGGACCCGAGGCCGCCCAGAGCCCTCC CCGGGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGAGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCC CTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCC GCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAC2_chr22_37220270_37249269	37227240	T T	TCCTCCCA others(423): Show TCCTCCCATGCCTCCCATGCCATACAAGCCCTCCTGTGCCATACACACCC CTCCCACGCCATACACCCCCCTCCCACGCCTCCCACACCATACACCCCTC CCACACCATACACCCCTCCCACGCCTCCCACACCATACAAGCCCTCCCGT GCCATACACCCCTCCCACAGCATATAACCCCTCCCACGCCATAAAACCCC TCTCACACCATACACCCCCCTCCCACACCTCCCACGCCATACAACCCCTC TCACACCATACACCGCTCCCATGCCATACACCCCTCCCACGCCTCCCATG CCATACAACCCTCCCATGACATACAGCCCCTCCTACGCCATACAACCCCT CCTGTGCCATACACCCCTCCCACGTCATACACCCCCTCCCACGTCATACA TCCCCTCCCATGCCTCCCACACCATACAACC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0177 a0001c0001t0004g0177	1	448	0.0022	430	c.449 others(445): Show c.449-438_449-437insGGTTGTATGGTGTGGGAGGCATGGGAGGGG ATGTATGACGTGGGAGGGGGTGTATGACGTGGGAGGGGTGTATGGCACAG GAGGGGTTGTATGGCGTAGGAGGGGCTGTATGTCATGGGAGGGTTGTATG GCATGGGAGGCGTGGGAGGGGTGTATGGCATGGGAGCGGTGTATGGTGTG AGAGGGGTTGTATGGCGTGGGAGGTGTGGGAGGGGGGTGTATGGTGTGAG AGGGGTTTTATGGCGTGGGAGGGGTTATATGCTGTGGGAGGGGTGTATGG CACGGGAGGGCTTGTATGGTGTGGGAGGCGTGGGAGGGGTGTATGGTGTG GGAGGGGTGTATGGTGTGGGAGGCGTGGGAGGGGGGTGTATGGCGTGGGA GGGGTGTGTATGGCACAGGAGGGCTTGTATGGCATGGGAGGCATGGGAGG	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RASA3_chr13_113972783_114137623	114099890	G G	GCCCCCCA others(423): Show GCCCCCCACAGCAGCCCCCACAGCAGCCCCCACAGCAGCCCCCCCACAGC CCCCACAGCAGCCCCCCCACAGCAGCCCCCACAGCAGCCCCCCCACAGCA GCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCACAGCAGCCC CCCCACAGCCCCCCACAGCCCCCCACAGCAGCCCCCACAGCAGCCCCCAC AGCAGCCCCCCCACAGCCCCCACAGCAGCCCCCCACAGCAGCCCCCACAG CAGCCCCCCCACAGCAGCCCCCACAGCAGCCCCCCCACAGCAGCCCCCAC AGCAGCCCCCCCACAGCCCCCACAGCAGCCCCCACAGCAGCCCCCCCACA GCCCCCACAGCAGCCCCCACAGCAGCCCCCCCACAGCCCCCACAGCAGCC CCCCACAGCAGCCCCCACAGCAGCCCCCCCA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0023	1	67	0.0149	430	c.56- others(447): Show c.56-26054_56-26053insTGGGGGGGCTGCTGTGGGGGCTGCTGTG GGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGCTGTGGG GGCTGTGGGGGGGCTGCTGTGGGGGCTGCTGTGGGGGCTGTGGGGGGGCT GCTGTGGGGGCTGCTGTGGGGGGGCTGCTGTGGGGGCTGCTGTGGGGGGG CTGCTGTGGGGGCTGCTGTGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCT GCTGTGGGGGCTGCTGTGGGGGCTGCTGTGGGGGGCTGTGGGGGGCTGTG GGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGG GGCTGCTGTGGGGGGGCTGCTGTGGGGGCTGCTGTGGGGGGGCTGCTGTG GGGGCTGTGGGGGGGCTGCTGTGGGGGCTGCTGTGGGGGCTGCTGTGGGG GG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(423): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18999.hp1 HG01168.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0210 a0001c0001t0011g0274 a0001c0001t0001g0210 a0001c0001t0011g0274	2	276	0.0073	430	c.132 others(447): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RGS12_chr4_3288021_3444913	3341502	G G	GGGCAGAG others(423): Show GGGCAGAGGGGAGGGTGGAGAGATGGTGTGGGCGGAGGGGAGGGTGGAGA GATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGG GAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGG GTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTG GAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGAGGGTGTGGG GGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGAT GGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGA CAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTG TGGGCGGAGGGGAGGGTAGAGAGATGAGGGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0062 a0005c0062	a0005c0062t0001 a0005c0062t0001	a0005c0062t0001g0140 a0005c0062t0001g0140	1	312	0.0032	430	c.188 others(449): Show c.1882-1434_1882-1433insGCAGAGGGGAGGGTGGAGAGATGGTG TGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGT GGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGG AGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGAT GGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAG GGTGGAGAGATGAGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTG TGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAG AGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAG GGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTAGAGAGATGAG GGTG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar

Search by Variant

Search

Search Results