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
LRRC7_chr1_69562922_70149364	69916099	T T	TTATATAT others(1093): Show TTATATATAATATATATATTATATACATATTTTGTATATATAATATATAT TATATACATATTTTATATATATAATATATATATTATATACATATTTTATA TATATAATATATATATTATATACATATTTTATATATATAATATATATAAT ATACATATTTTATATATAATATATATTATATACATATTTTATATATATTA TATATTATATACATATTTTATATATATAATATATATATTATATACATATT TCATATATATAATATATATTATATACATATTTCATATATAATATATATAT TATATACATATTTTATATATTATATATTATATACATATTTTATATATTAT ATATATTATATACATATTTTATATATTATATATATTATATACATATTTTA TATATTATATACATATTTTATATATAATATATATAATATACATATTTTAT ATATAATATATATAATATACATATTTTATATATATAATATATATAATATA CATATTTTATATATATAATATATATAATATACATATTTTATATATATAAT ATATATAATATACATATTTTATATATATAATATATATAATATACATATTT TATATATAATATATATAATATATATAATATACATATTTTATATATAATAT ATATAATATACATATTTTATATATATAATATATATAATATACATATTTTA TATATATAATATATATAATATACATATTTTATATATAATATATATAATAT ACATATTTTATATATATAATATATATTATATACATATTTTATATATATAA TATATATTATATACATATTTTATATATATAATATATATTATATACATATT TTATATATATAATATATATTATATACATATTTTATATATATAATATATAT TATATACATATTTTATATATATAATATATATTATATACATATTTTATATA TATAATATATATTATATACATATTTTATATATATAATATATATTATATAC ATATTTTATATATATAATATATATTATATACATATTTTATATATATAATA TATATTATATACATATTTTATATATATAATATATATTATATACATATTTT A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0014 a0001c0003t0028g0014	1	108	0.0093	1100	c.648 others(1119): Show c.648-15376_648-15375insGTATATATAATATATATTATATACAT ATTTTATATATATAATATATATATTATATACATATTTTATATATATAATA TATATATTATATACATATTTTATATATATAATATATATAATATACATATT TTATATATAATATATATTATATACATATTTTATATATATTATATATTATA TACATATTTTATATATATAATATATATATTATATACATATTTCATATATA TAATATATATTATATACATATTTCATATATAATATATATATTATATACAT ATTTTATATATTATATATTATATACATATTTTATATATTATATATATTAT ATACATATTTTATATATTATATATATTATATACATATTTTATATATTATA TACATATTTTATATATAATATATATAATATACATATTTTATATATAATAT ATATAATATACATATTTTATATATATAATATATATAATATACATATTTTA TATATATAATATATATAATATACATATTTTATATATATAATATATATAAT ATACATATTTTATATATATAATATATATAATATACATATTTTATATATAA TATATATAATATATATAATATACATATTTTATATATAATATATATAATAT ACATATTTTATATATATAATATATATAATATACATATTTTATATATATAA TATATATAATATACATATTTTATATATAATATATATAATATACATATTTT ATATATATAATATATATTATATACATATTTTATATATATAATATATATTA TATACATATTTTATATATATAATATATATTATATACATATTTTATATATA TAATATATATTATATACATATTTTATATATATAATATATATTATATACAT ATTTTATATATATAATATATATTATATACATATTTTATATATATAATATA TATTATATACATATTTTATATATATAATATATATTATATACATATTTTAT ATATATAATATATATTATATACATATTTTATATATATAATATATATTATA TACATATTTTATATATATAATATATATTATATACATATTTTATATATATA ATATATATATTATATACATATTTT	LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAEA_chr4_1284891_1345137	1317045	G G	GCCCCACA others(1093): Show GCCCCACACTCTAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCA GACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCCCAGGC CCACCCCGGCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGTCCCA CACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCA CCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCAC CCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACA CTCCAGACTCACCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACC CGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCA GCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCC AGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCA GGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGC CCCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCCACACTCCAGAC TCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCC CACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCC ACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTC ACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCA CCCGGTCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACAC TCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCC CCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCC AGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTC CAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCCGC AGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAG C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	388	0.0026	1100	c.456 others(1117): Show c.456+1445_456+1446insCCCCACACTCTAGACTCACCCCCAGGCC CACCCCGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGTCCCAC ACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCACACTCAC CTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCC AGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTC CAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGC AGGCTCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCCAG CCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCCACACTCCAGA CTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGC CCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCC CACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACT CACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCC ACCCGGTCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACA CTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACC CCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCC CAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACT CCAGACTCACCCGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCCCA GGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGC CCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAG ACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCC CCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGAC TCACCCCCAGGCCCACCCCAGC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8			chr4	TogoVar
MYT1L_chr2_1784113_2336275	2295673	G G	GAGATAGA others(1093): Show GAGATAGAGAGACAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGA GAGAGACAGACAGACAGAGAGAGAGAGATAGACAGACAGACAGAGAGAGA GAGAGAGACAGACAGACAGAGAGAGAGAGAGAGAGACAGACAGACAGAGA GAGACAGACAGAGAGAGAGAGATAGAGAGACAGACAGAGAGAGAGAGATA GAGAGACAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGA GAGAGAGAGACAGACAGACAGAGAGAGAGAGACAGACAGAGAGAGAGAGA GAGACAGACAGACAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGA GAGAGAGAGACAGACAGACAGAGAGAGACAGACAGACAGAGAGAGAGAGA TAGACAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGAGA GAGAGAGACAGACAGACAGAGAGAGACAGACAGAGAGAGAGAGATAGAGA GACAGACAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGA GAGACAGACAGACAGAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGA GAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGAGATAGA GAGACAGACAGACAGAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGA CAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGAGAGAGA GACAGACAGACAGAGAGAGACAGACAGACAGAGAGAGAGATAGAGAGACA GACAGACAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGA GAGACAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGACAGACA GAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGATAGAGAGA CAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGAGAGAGA GAGACAGACAGACAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGA GAGAGAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGAGA T	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0102 a0001c0004t0001g0102	1	104	0.0096	1100	c.-52 others(1121): Show c.-520-11171_-520-11170insATCTCTCTCTCTGTCTGTCTGTCT CTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCT CTATCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTCTGTCTGTCT GTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTCTGT CTGTCTGTCTCTCTATCTCTCTCTCTCTGTCTGTCTCTGTCTGTCTGTCT CTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGTCTGT CTCTCTATCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTGT CTGTCTGTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGTCT GTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTGTCTGTCTGTCTCT CTCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTGTCTGTCT GTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCTGTCTGTCTGTCTCT CTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGTCTGT CTCTCTATCTCTCTCTCTCTGTCTGTCTCTCTATCTCTCTCTCTCTGTCT GTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTCTGTCTGTCTGTCT CTCTCTCTCTCTCTGTCTGTCTGTCTATCTCTCTCTCTCTGTCTGTCTGT CTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCT CTATCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGTCTCT CTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCT CTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTCTGTCTGTCT CTCTATCTCTCTCTCTCTGTCTGTCTCTCTCTGTCTGTCTGTCTCTCTCT CTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGTCTGTCTAT CTCTCTCTCTCTGTCTGTCTGTCTCTCTCTGTCTGTCTGTCTCTCTCTCT CTCTCTGTCTGTCTGTCTCTCTATCT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	1/24			chr2	TogoVar
NOC4L_chr12_132139457_132157468	132149138	T T	TACCACAC others(1093): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0014 a0014	a0014c0026 a0014c0026	a0014c0026t0001 a0014c0026t0001	a0014c0026t0001g0103 a0014c0026t0001g0103	1	294	0.0034	1100	c.901 others(1115): Show c.901+281_901+282insACTCACACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCG GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TGTCTCCT others(1093): Show TGTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCACCCTCCCCTCTCC CCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCTCC CCCTCCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCC TTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTC C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0049 a0003c0004t0049	a0003c0004t0049g0270 a0003c0004t0049g0270	1	326	0.0031	1100	c.433 others(1117): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGGAGGGGGAGGGGAGGGGAAGGGGGAGGGGGAG GGGAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAGGGGAGAGGGGAGGGTGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAC	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OPRL1_chr20_64075082_64105633	64088600	T T	TAGGATCT others(1093): Show TAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGGTCTTT GCAGGGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGG CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGGGAGGCCATGATCTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGG TAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGGGAGGGCAGGATCTGTGCAGAGCGGCCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGGGAGGGCAGGATCCGT GCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGG CAGGATCTGTGCAGGGAGGGCAGGATCCGTGCAGAGTGGCCAGGATCCGT GCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGGGAGGG CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGGGAGGGCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGC C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp2 HG01192.hp2 HG00741.hp1 HG01074.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0004 a0001c0001t0017	a0001c0001t0004g0006 a0001c0001t0004g0035 a0001c0001t0017g0006 a0001c0001t0004g0006 a0001c0001t0004g0035 a0001c0001t0017g0006	3	66	0.0455	1100	c.-18 others(1119): Show c.-184-3308_-184-3307insGCAGGATCTGTGCAGAGTGGCCAGGA TCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGGTCTGTGCAGA GTGGCCAGGGTCTTTGCAGGGTGGCCAGGATCTGTGCAGGGAGGCCAGGA TCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGA GTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGA TCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGA GTGGCCAGGATCTGTGCAGGGAGGCCATGATCTGTGCAGGGAGGGCAGGG TCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGG GAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGA TCTGTGCAGGGAGGGTAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGA GTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGCGGCCAGGA TCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGA GTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGA TCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGG GAGGGCAGGATCCGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGA TCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGA GTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGA TCTGTGCAGGGAGGGCAGGATCTGTGCAGGGAGGGCAGGATCCGTGCAGA GTGGCCAGGATCCGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGA TCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGA GTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGGGAGGCCAGGA TCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGA GTGGCCAGGATCTGTGCAGGGAGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPRL1_chr20_64075082_64105633	64088874	T T	TGGCCAGG others(1093): Show TGGCCAGGATCTGTGCAGGGAAGGCAGGATCTGTGCAGAGTGGCCAGGAT CCGTGCAGAGTGGCCAGGATCCGTGCAGGGAGGCCATGATCTGTGCAGGG AGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGTGGCCAGGGTCTGTGCAGAGTGGCCAGGGT CTTGGCAGGGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGG AGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGAT CTGTGCAGAGTGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGGGAGGGCAGGATCCGTGCAGAGTGGCCAGGAT CCGTGCAGAGTGGCCAGGATCCGTGCAGGGAGGCCATGATCCGTGCAGGG AGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGGG AGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGCAAGGAGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAAGGAGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGAAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGAT CTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGG A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	66	0.0152	1100	c.-18 others(1119): Show c.-184-3085_-184-3084insATCTGTGCAGGGAAGGCAGGATCTGT GCAGAGTGGCCAGGATCCGTGCAGAGTGGCCAGGATCCGTGCAGGGAGGC CATGATCTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGG CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGGTCTGT GCAGAGTGGCCAGGGTCTTGGCAGGGTGGCCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGGGAGGGCAGGATCTGTGCAGAGTGGGCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCCGT GCAGAGTGGCCAGGATCCGTGCAGAGTGGCCAGGATCCGTGCAGGGAGGC CATGATCCGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGG CAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAAGGAGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAAGGAGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAGGGAGGG CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGGGAGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGGGAGGCCAGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPRL1_chr20_64075082_64105633	64088874	T T	TGGCCAGG others(1093): Show TGGCCAGGATCTGTGCAGGGAAGGCAGGATCTGTGCAGAGTGGCCAGGAT CCGTGCAGAGTGGCCAGGATCCGTGCAGGGAGGCCATGATCTGTGCAGGG AGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGTGGCCAGGGTCTGTGCAGAGTGGCCAGGGT CTTGGCAGGGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGG AGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGAT CTGTGCAGAGTGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGGGAGGGCAGGATCCGTGCAGAGTGGCCAGGAT CCGTGCAGAGTGGCCAGGATCCGTGCAGGGAGGCCATGATCTGTGCAGGG AGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGGG AGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGCAAGGAGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAAGGAGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGAAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGAT CTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGG A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03490.hp1 HG01934.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0028 a0001c0001t0008g0030 a0001c0001t0008g0028 a0001c0001t0008g0030	2	66	0.0303	1100	c.-18 others(1119): Show c.-184-3085_-184-3084insATCTGTGCAGGGAAGGCAGGATCTGT GCAGAGTGGCCAGGATCCGTGCAGAGTGGCCAGGATCCGTGCAGGGAGGC CATGATCTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGG CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGGTCTGT GCAGAGTGGCCAGGGTCTTGGCAGGGTGGCCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGGGAGGGCAGGATCTGTGCAGAGTGGGCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCCGT GCAGAGTGGCCAGGATCCGTGCAGAGTGGCCAGGATCCGTGCAGGGAGGC CATGATCTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGG CAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAAGGAGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAAGGAGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAGGGAGGG CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGT GCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGC CAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGT GCAGGGAGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGC CAGGATCTGTGCAGGGAGGCCAGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(1093): Show ATGTATATATATGTGTGTATATATACATATATGTATATGTATATGTGTAT ATATGCATATATGTATATGCATATGTGTATATATGCATATATGTATATGC ATATGTGTATATATGCATATATGTATATGCATATGTGTGTATATGCATAT ATGTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGT GTGTATATATACATATATATGTATATGCATATGTGTGTATATATACATAT ATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCATAT GTGTGTATATATACATATATATGTATATGCATATGTGTGTGTATATACAT ATATATGTATATGCATATGTGTGTGTATATACATATATATGTATATGCAT ATGTGTGTGTATATACATATATATGTATATGCATATGTGTGTGTATATAC ATATATATGTATATGCATATGTGTGTGTATATACATATATATGTATATGC ATATGTGTGTGTATATACATATATGTATATGCATGTGTGTATATACATAT ATGTATATGCATATGTGTGTATATACATATATGTATATGCATATGTGTGT ATATACATATATATGTATATGCATATGTGTGTATATATACATATATATGT ATATGCATATGTGTGTGTATATACATATATATGTATATGCATATGTGTGT GTATATACATATATATGTATATGCATATGTGTGTGTATATACATATATAT GTATATGCATATGTGTGTGTATATACATATATGTATATGCATATGTGTGT ACATACATATATATGTATATGCATATGTGTGTATATATACATATATATGT ATATGCATATGTGTGTATATATACACATATACATATATATGCATATGTGT GTATATATACATATACATATATATGCATATGTGTGTATATATACATATAC ATATATATGCATATGTGTGTATATATACATATACATATATATGCATATAT GTGTATACATATACATATATATGCATATATGTGTATACATATACATATAT ATGCATGTGTGTGTATATATGTGTGTGTATATATACACATATATATGTGT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	456	0.0022	1100	c.31 others(1111): Show c.3116_*3117insTGTATATATATGTGTGTATATATACATATATGTA TATGTATATGTGTATATATGCATATATGTATATGCATATGTGTATATATG CATATATGTATATGCATATGTGTATATATGCATATATGTATATGCATATG TGTGTATATGCATATATGTATATGCATATGTGTGTATATATACATATATA TGTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTG TGTATATATACATATATATGTATATGCATATGTGTGTATATATACATATA TATGTATATGCATATGTGTGTATATATACATATATATGTATATGCATATG TGTGTGTATATACATATATATGTATATGCATATGTGTGTGTATATACATA TATATGTATATGCATATGTGTGTGTATATACATATATATGTATATGCATA TGTGTGTGTATATACATATATATGTATATGCATATGTGTGTGTATATACA TATATATGTATATGCATATGTGTGTGTATATACATATATGTATATGCATG TGTGTATATACATATATGTATATGCATATGTGTGTATATACATATATGTA TATGCATATGTGTGTATATACATATATATGTATATGCATATGTGTGTATA TATACATATATATGTATATGCATATGTGTGTGTATATACATATATATGTA TATGCATATGTGTGTGTATATACATATATATGTATATGCATATGTGTGTG TATATACATATATATGTATATGCATATGTGTGTGTATATACATATATGTA TATGCATATGTGTGTACATACATATATATGTATATGCATATGTGTGTATA TATACATATATATGTATATGCATATGTGTGTATATATACACATATACATA TATATGCATATGTGTGTATATATACATATACATATATATGCATATGTGTG TATATATACATATACATATATATGCATATGTGTGTATATATACATATACA TATATATGCATATATGTGTATACATATACATATATATGCATATATGTGTA TACATATACATATATATGCATGTGTGTGTATATATGTGTGTGTATATATA CACATATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PFKFB3_chr10_6197932_6240532	6206842	G G	GCAGCCAG others(1093): Show GCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCA GAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA CATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACT GGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGG CAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCT CACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGA CTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCA GGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTC CTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCA GACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGC CAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGC TCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTC CAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCG GCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGG GCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTT TCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGG CGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAG GGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCAC TTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATG GGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAG AGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTC ACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAA T	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	432	0.0023	1100	c.76+ others(1115): Show c.76+3506_76+3507insCAGCCAGGCAGAGGGGCTCCTCACATCCCA GACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGC CAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAGAC ACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCC CAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCA GCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAGAG ACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACAT CCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGG CAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGCAG AGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCAC ATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTG GGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAGGC AGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTC ACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGAC TGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCCAG GCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCC TCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAG ACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGGCC AGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCT CCTCACATCCCAGACAATGGGCGGCCAGGCAGAGACACTCCTCACTTTCC AGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACAATGGGCGG CCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGG CTCCTCACATCCCAGACAAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14			chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210924	A A	AGTCTTGA others(1093): Show AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCGTGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCGTGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCGTGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCGTGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCGTGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCGTGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCGTGTTAGCCAGGAT AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCGTGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0396 a0001c0001t0056g0396	1	432	0.0023	1100	c.77- others(1115): Show c.77-2691_77-2690insAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCGTG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCGTG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCGTG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCGTG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCGTG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCGTG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCGTG TTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCGTG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATG TTAGCCAGGATGGTCTTGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(1093): Show TGGGGAGAGAAGGGGAGGGAGAAGGGGATGGGGAGAGAAGGGGATGGGGA GAGAAGGGGATGGGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGA GAAGGGGAGGGGGAGACAAGGGGGAGAGAAGGGGAGGGGGAGACAAGGGG GAGAGAAGGGGAGGGGGAGAGGGGGGGAGAGGGGGAGGGGGAGAGAGGGG GAGAGAAAGGGAGGGGGAGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAGA AGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGAGAAGGGGAG AGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGAAGGGG AGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGAGAAG GGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGGAG GGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGG AGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGGAGGGGGAG AGGGGGAGGAGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGGGA GGAGGGGGGAGGGGGGGAGGAGGGGGGAGGGGGAGAGGGGGAGAGGGGGA GGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGG AGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGAGGGAGAGGGG GAAATGGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAG GGCGAGTGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAG AGGGCGAGAGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCAAGGGCGAGAG AGAGAGAGGGCGGGCGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAG AGAGGGCGGGTGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCG GGCAAGAGAGAGAGAGAGAGGGCGGTCAAGAGAGAGAGAGAGGGCGGGCA AGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGG A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0001 a0003c0017t0001	a0003c0017t0001g0190 a0003c0017t0001g0190	1	308	0.0033	1100	c.371 others(1117): Show c.3718+654_3718+655insTCCCTCTCGCCCTCTCCCTCTCTCTCCC TCTCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGACC GCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCC TCTCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGC CCTCTCTCGCCCGCCCTCTCTCTCTCTCGCCCTTGCCCTCTCTCTCTTGC CCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCAC TCGCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCC TCTCTCTTGCCCCTTCCCATTTCCCCCTCTCCCTCTCCTCCCCCTCTCCC CCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCCC CCTCCTCCCCCCCTCCCCCCTCCTCCCCCCCTCCTCCCCCTCTCCCCCTC TCCCCCTCCCCCCTCCTCCCCCTCTCCCCCTCCCCCCTCCTCCCCCTCTC CCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCTCCCCCTC CTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCTCCCCC TCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCCTCCC CCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTCCTCCCCCTCT CCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTC CTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCC CTCTCTCCCCCTCCCTTTCTCTCCCCCTCTCTCCCCCTCCCCCTCTCCCC CCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTC CCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCTCC CCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCC TTCTCCCTCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
POLG_chr15_89311320_89339824	89325143	A A	AGAGTGAG others(1093): Show AGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTG AGTGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTGTGAGTGAGAGAGTGAG TGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAG AGTGAGTGAGTGAGTGAGTGAGTGAGAGAGAGTGAGTGAGTGAGTGAGTG AGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGTG AGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGTGAGTGAGAGAGTGAGTG AGTGAGTGAGTGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTG AGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAG AGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGAGAG TGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTG AGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGTGAGTGAGAGAGTGAG TGAGAGAGTGAGTGAGTGAGTGAGTGAGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGTGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAG TGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGTGAGTGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTG AGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTG AGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAG AGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAG TGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAG T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	398	0.0025	1100	c.194 others(1117): Show c.1949+306_1949+307insACTCTCTCACTCACTCACTCTCTCACTC ACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCAC TCTCTCACTCACTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTC ACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCAC TCTCTCACTCTCTCACTCACTCTCACTCACTCACTCACTCACTCTCTCAC TCACTCACTCACTCACTCACTCTCACTCACTCACTCACTCACTCTCTCAC TCACTCTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCAC TCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTC ACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCAC TCACTCACTCTCTCACTCACTCACTCACTCTCACTCACTCACTCTCTCAC TCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCTCAC TCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACACTCACTCAC TCACTCACTCTCTCACTCACTCTCACTCACTCACTCTCTCACTCACTCAC TCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCTCTC ACTCACTCACTCACTCACTCTCTCTCACTCACTCACTCACTCACTCACTC TCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCAC TCTCTCACTCACACTCACTCACTCACTCACTCTCTCACTCACTCTCACTC ACTCTCTCACTCACTCTCTCACTCACTCTCACTCACTCACTCACTCACTC ACTCACTCACTCTCTCACTCTCTCACTCACTCACTCACTCACTCTCTCTC ACTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCAC TCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACACTCACTCAC TCACTCACTCTCTCACTCTCACTCACTCACTCACTCTCTCACTCACTCTC TCACTCACTCACTCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
RBFOX3_chr17_79084345_79616051	79483438	G G	GCCTCCCT others(1093): Show GCCTCCCTCCCTCCCTCCCTCCCTGCCTGCCTCCCTCCCTCCCTCCCTCC CTGCCTCCTCCTCCCTCCCTGCCTGCCTGCATCCCTCCCTCCCTCCTGCC CTGCCCTGCCTCCTGCCTACCTGCCTCCTGCCTCTCCTCCCTCCCTGCCT CCTCCCTCCCTCCCTCCCCTGCCTGCCTCCCTCCCTCCCTCCCTCCCTGC CTGCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCGTCCCTCCCT GCCTGTCTCCCTCCCTCCCTGCCTGCCTCCCTCCCTGCCTGCCTCCCTCC CTCCCTGCCTGCCTCCCTCCCTGCCTGCCTCCCTCCCTTCCTGCCTCCCT CCCTGCCTGCCTGCCTCCCTCCCTCCCTCCCCACCTGCCTACCTCCCTCC TTCCCTGCCTCCCTCCTTCCCTGCCTCCCTCCCTCCCTGCCTCCCTGCCT ACCTGCCTGCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTGCCTGCCTGC CTCCCTCCCTCCCTCCCTCCCTGCCTGCCTACCTGCCTGCCTCCCTCCCT GCCTCCCTCCCTCCCTGCCTGCCTGCCTCCCTCCCTCCTTCCCCACCTCC CTCCCTCCCTCCCTGCCTGTCTCCCTCCCTCCCTCCCTGCCTCCCTCCCT CCCTCCCTGCCTGCCTCCCTCCCTCCTTCCCCACCTCCCTCCCTCCCTCC CTGCCTGTCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTGCCTGCCT CCCTCCCTTCCTGCCTGCCTCCCTCCCTCCTTCCCCACCTCCCTCCCTCC CTCCCTGCCTGCCTCCCTCCCTCCTTCCCCCACCTCCCTCCCTCCCTCCC TGCCTGCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTGCCTGCCTC CCTCCCTTCCTGCCTGCCTCCCTCCCCTCCTTCCCCACCTCCCTCCCTCC CTCCCTGCCTCCCTCCCTCCCTCCCTGCCTGCCTACCTGCCTCCCTCCCT CCCTGCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTGCCTGCCTCC CTCCCTCCTTCCCCACCTCCCTCCCTCCCTCCCTGCCTGCCTGCCTGCCT C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	154	0.0065	1100	c.-31 others(1117): Show c.-319-841_-319-840insGAGGCAGGCAGGCAGGCAGGGAGGGAGG GAGGGAGGTGGGGAAGGAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGGA GGCAGGGAGGGAGGGAGGCAGGGAGGGAGGGAGGCAGGTAGGCAGGCAGG GAGGGAGGGAGGGAGGCAGGGAGGGAGGGAGGGAGGTGGGGAAGGAGGGG AGGGAGGCAGGCAGGAAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGCAG GGAGGGAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGGAGGTGGGGGAAG GAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGGAGGTGGGGAAGGAGGGA GGGAGGCAGGCAGGAAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGCAGG GAGGGAGGGAGGGAGACAGGCAGGGAGGGAGGGAGGGAGGTGGGGAAGGA GGGAGGGAGGCAGGCAGGGAGGGAGGGAGGGAGGCAGGGAGGGAGGGAGG GAGACAGGCAGGGAGGGAGGGAGGGAGGTGGGGAAGGAGGGAGGGAGGCA GGCAGGCAGGGAGGGAGGGAGGCAGGGAGGGAGGCAGGCAGGTAGGCAGG CAGGGAGGGAGGGAGGGAGGGAGGCAGGCAGGCAGGGAGGGAGGGAGGGA GGCAGGGAGGGAGGCAGGCAGGTAGGCAGGGAGGCAGGGAGGGAGGGAGG CAGGGAAGGAGGGAGGCAGGGAAGGAGGGAGGTAGGCAGGTGGGGAGGGA GGGAGGGAGGCAGGCAGGCAGGGAGGGAGGCAGGAAGGGAGGGAGGCAGG CAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGCAGGCAGGGAGGGAGGCA GGCAGGGAGGGAGGGAGACAGGCAGGGAGGGACGGAGGGAGGGAGGGAGG GAGGCAGGGAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGGAGGGAGGCA GGCAGGGGAGGGAGGGAGGGAGGAGGCAGGGAGGGAGGAGAGGCAGGAGG CAGGTAGGCAGGAGGCAGGGCAGGGCAGGAGGGAGGGAGGGATGCAGGCA GGCAGGGAGGGAGGAGGAGGCAGGGAGGGAGGGAGGGAGGGAGGCAGGCA GGGAGGGAGGGAGGGAGGGAGG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RIN3_chr14_92508781_92693994	92547356	T T	TATTATAA others(1093): Show TATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTT TATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAA ATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTA TAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATAT TATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTA TTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAAT TATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATA AAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTA TTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCT TTATTTTATTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATC TTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTAT TATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAA ATAAATTATCTTTTATTATAAAATAAATTATCTTTATTTTATAATTATAA AATAAATTATCTTTATTTTATAATTATAAAATAAATTATCTTTATTTTAT AATTATAAAATTATCTTTATTTTATAATTATAAAATAATCTTTATTTTAT AATTATAAAATAATCTTTATTTTATAATTATAAAATAATCTTTATTTTAT AATTATAAAATAATCTTTATTTTATAATTATAAAATAATCTTTATTTTAT AATTATAAAATAATCTTTATTTTATAATTATAAAATAATCTTTATTTTAT TATTATAAAATAATCTTTATTTTATTATTATAATAAATTATCTTTATTAC A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0094 a0009c0008t0001g0094	1	334	0.0030	1100	c.45- others(1115): Show c.45-8393_45-8392insTATAAAATAAATTATCTTTATTTTATTATT ATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATT TTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTA TCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAA ATAAATTATCTTTATATTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTT ATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAA TTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTTA TTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAA AATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAA TTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCT TTATTTTATAATTATAAAATAAATTATCTTTATTTTATAATTATAAAATA AATTATCTTTATTTTATAATTATAAAATTATCTTTATTTTATAATTATAA AATAATCTTTATTTTATAATTATAAAATAATCTTTATTTTATAATTATAA AATAATCTTTATTTTATAATTATAAAATAATCTTTATTTTATAATTATAA AATAATCTTTATTTTATAATTATAAAATAATCTTTATTTTATAATTATAA AATAATCTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTATAA TAAATTATCTTTATTACAAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
SEL1L2_chr20_13844247_13995614	13934446	C C	CATATATA others(1093): Show CATATATATATATATTCCATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATTCCATA TATATATATATTCCATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATTCCATATAT ATATATATTCCATATATATATATTCCATATATATATATTCCATATATATA TATTCCATATATATATTCCATATATATTCCATATATATATTCCATATATA TATTCCATATATATATATATTCCATATATATATTCCATATATATATTCCA T	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	324	0.0031	1100	c.115 others(1117): Show c.115-2676_115-2675insATGGAATATATATATGGAATATATATAT GGAATATATATATATATGGAATATATATATGGAATATATATATGGAATAT ATATGGAATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATATGGAATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATGGAATATATATATATATGGAATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SLC6A12_chr12_185081_219157	197206	C C	CATCCATC others(1093): Show CATCCATCCATCCATCTATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCCACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCCATC CATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCTATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATC TATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTA ACCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCA TCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATC CATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCA TCTATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATC CATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTACCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCA GTGTTGGTCCATCTACCATCCATCATCCTCCCCCTCCTCTTTCTCATGGT A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	420	0.0024	1100	c.107 others(1117): Show c.1075+170_1075+171insTACCATGAGAAAGAGGAGGGGGAGGATG ATGGATGGTAGATGGACCAACACTGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATGGTTAGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGAT GGATGAATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGAT GGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGGTAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGAT GGATGGATGGATGGGTGGATGGATGGATGGATGGATGGATGGGTAGATGG ATGGATAGATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2377652	T T	TCCCCGTC others(1093): Show TCCCCGTCCCCTCCCCTCCCCTCCTCTCTCCCCTCCCCTCCCCTTCCCTC CCCTCTCCCCTCCCCCTCCCCCTTACCCTCCCCCCTCCCCCCTCTGCCCT CCTCTCTCCTCTCTGCCCTCCCCTCTCCCCTCTGCCCTCCCCTCTCCCCT CCCCTCCCCTCTGCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCT CCTCTCTCCTCCCCTCTCCCCTCTCACCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCC CCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCC CCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTC TCCCCTCCGCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCTTCCCCTCT CCCCTTCCCTCTCCCCTCCCCTCCCCTCTCCCCTTCCGTCTCCCCTCCCC TCTCCCCTTCCCTCCCCTCCCCTCTCCCCTCCCTTCCCCTCTCCCCTTCC CTCTCCCCTCCCCTCCCCTCTCCCCTTCCGTCTCCCCTCCCCTCTCCCCT TCCCTCCCCTCCCCTCTCCCCTTCCTTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCCCCTCCCGTCTCCCCTCCCCTCCCCCCTCCCCTCTC CCCCTGCCCCCTCCCCTCCCCTCTCCTCTCCCCTCTCCTCTCCCCTCTCC TCCCCTCTCCCCTCTCCTCTCCCCCTCTTCTCCCCTCTCCCCCTCCTCCC CTCTCCCCTCCTCTCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCC TCCCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCCCCCCTCCCCTCTCCT CCCCTCTCCCCTCCCCTCTCCTCCCCTCTCCCCTCCCCTCTCCACCCCTC TCCCCTCCCCCCCTCCCCTTTCTCCTCCCCTCTCCTCCCCTCCCTTCTCC C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0059 a0002c0001t0001g0059	1	114	0.0088	1100	c.-25 others(1119): Show c.-25-12108_-25-12107insCCCGTCCCCTCCCCTCCCCTCCTCTC TCCCCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTCCCCCTTACCC TCCCCCCTCCCCCCTCTGCCCTCCTCTCTCCTCTCTGCCCTCCCCTCTCC CCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCTCTGCCCTCCCCTCTCCTC TCCCCTCCCCTCTCCCCTCTCTCCTCTCTCCTCCCCTCTCCCCTCTCACC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCTCCCCTCCCCTCCCCTCTCCCCTCCGCTCCCCTCTCCCCTCCCCT CCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCC CCTCTCCCCTCCCTTCCCCTCTCCCCTTCCCTCTCCCCTCCCCTCCCCTC TCCCCTTCCGTCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCC CTCCCTTCCCCTCTCCCCTTCCCTCTCCCCTCCCCTCCCCTCTCCCCTTC CGTCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCTTC TCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCGTCTCCC CTCCCCTCCCCCCTCCCCTCTCCCCCTGCCCCCTCCCCTCCCCTCTCCTC TCCCCTCTCCTCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCCCCCTCT TCTCCCCTCTCCCCCTCCTCCCCTCTCCCCTCCTCTCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCTCCTCCCCTCTCCTCCCCTCTCCTCCCCTCT CCCCTCCCCCCTCCCCTCTCCTCCCCTCTCCCCTCCCCTCTCCTCCCCTC TCCCCTCCCCTCTCCACCCCTCTCCCCTCCCCCCCTCCCCTTTCTCCTCC CCTCTCCTCCCCTCCCTTCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TTLL8_chr22_50013575_50063298	50028634	C C	CCTCGTAA others(1093): Show CCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACC CCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCCACACACACTCGTAAAGACCCCCATCACACCGT CCTGAAGACCCCACACACACTCGTAAAGACCCCCGTCATACCATCCTGAA GACCCCACACACCCTCGTAAAGACCCCCATCATACCATCCTAAAGACCCC CACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCACACATA CCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCACACACACTCG TAAAGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGTAAAGA CCCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCCA TCACACCGTCCTGAAGACCCACACACCCTCGTAAAGACCCCATCACACCA TCCTGAAGACCCCCACACACACTCGTAAAGACCCCATCACACCATCCTGA AGACCCACACATACCCTCGTAAAGACCCCATCACACCATCCTAAAGACCC CCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCCACAC ACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCACACATACCCTC GTAAAGACCCCATCACACCATCCTAAAGACCCCCACACACACTCGTAAAG ACCCCATCACACCATCCTGAAGACCCCCACACACACTCGTAAAGACCCCC ATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACAC CATCCTGAAGACCCCCACACACACTCGTAAAGACCCCCATCACACCGTCC TGAAGACCCCACACACACTCGTAAAGACCCCCGTCATACCATCCTAAAGA CCCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCA CATACCCTCGTAAAGACCCCCATCACACCATCCTGAAGACCCCCACACAC A	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0069 a0003c0003t0001g0069	1	224	0.0045	1100	c.225 others(1119): Show c.2251+1795_2251+1796insTGTGTGTGGGGGTCTTCAGGATGGTG TGATGGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATG GGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTATGACGGGGGTC TTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACG AGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTG TGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGG GGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTT TAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGTGGGTCTTCAGGAC GGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTG ATGGGGTCTTTACGAGGGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGG TCTTTACGAGGGTATGTGTGGGTCTTCAGGATGGTGTGATGGGGTCTTTA CGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGG TGTGTGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGG GGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGGTCT TCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGA TGGTGTGATGGGGTCTTTACGAGGGTATGTGTGGGTCTTCAGGACGGTGT GATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTATGATGGG GGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTATGACGGGGGTCTT TACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAG TGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTG TGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTC TTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGA CGGTGTGATGGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
YBEY_chr21_46281342_46302751	46292872	A A	AATTCCTC others(1093): Show AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAATCAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC ATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCC ACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTCAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTC TAGATTAAATTCTTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTA G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0359 a0001c0001t0001g0359	1	404	0.0025	1100	c.339 others(1117): Show c.339+1453_339+1454insAATCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGAAGTGAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTCAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGAAGTGAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAAACTCTAGATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCTTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABR_chr17_998519_1184981	1119284	T T	TCCTCCCA others(1094): Show TCCTCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGA GCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTT ATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTC CCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCCG AGTTCCTCCCAGCATTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCCC TGAGCCCGAGTTCCTCCCAGCATTATCCCTGAGCCCGAGTTCCTCCCAGC GTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTC CTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTGAG CCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTA TCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCC AGCGTTATCCCTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCTGA GTCCCTCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCT GAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCG TTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCT CCCCAGCGTTATCGCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCC TGAGTTCTTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATC CCTGAGCCTGAGTTCCCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCA GCGTTATCCCTGAGCCTGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAG TTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTG AGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGT TATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTC CCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTG AG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0166 a0001c0001t0059g0166	1	337	0.0030	1101	c.246 others(1118): Show c.246+5898_246+5899insCTCAGGCTCAGGGATAACGCTGGGAGGA ACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGC TGGGAGGACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCAGGG ATAACGCTGGGGAGGACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAG GCTCAGGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGA GGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAA CGCTGGGGGGAACTCAGGCTCAGGGATAACGCTGGGGAGGACTCAGGCTC AGGGATAACGCTGGGAAGAACTCAGGCTCAGGGATAACGCTGGGAGGAAC TCAGGCTCAGCGATAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTG GGAGGAACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCAGGGA TAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGG CTCAGGGTTAACGCTGGGAGGGACTCAGGCTCAGGCAATAACGCTGGGAG GGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAACG CTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAG GGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAACT CGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGG GAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGAT AATGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGT TCAGGGATAATGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGGAGG ACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGC TGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGG GATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCA GGCTCAGGGTTAACGCTGGGAGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ARHGAP19_chr10_97217179_97297637	97251495	A A	AAGGGAAG others(1094): Show AAGGGAAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGAAGGGGAAGGGAAG GGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAG GGAAAAGGGAAGGAGAAAAGGAAGGGAAGGGGAAGGGAAGGGGAAGATGA AGGGAAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGAAGGGAA GGGGAAGGGGAAAGAAAGGGAGAGGGAGGGGGCAGGGAAGGGAAGGGGAA TGGAAGAGGAAGGAAGGGAAGGAAGGGGAATGGAAAGGAAGGGGAAGGGG AAGGGAAGGGAAAGGAAGGGGGAGGGGAAGGGGAAGGGGGAGGGGAAGGG GGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGA AAGGAAGGGGAAGGGGGAGGGAAAGGAAAGGGGAATGGAAGGGAAGGGAA AGGAAGGGGAAGGGAAGGGGAAGGGGAGGAGAAGGGGAAGGGGAAGGGAA AAGGAAGGAGAAGAGGAAGGGAAGGGGAGGGGAAGGCAAGGGGAAAGGAA GGAAGGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGAAGGGAAG GGGAAGGGAAGGGGAAAGGGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGA GGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAAAGGAAGGGGGGGAAGG GAAGGTGGAAGGAAGGGGAAGGGGAATGGAAAGGAAGGGGAAGGGAAGGG AAGGGAAAGGGAAGGGGGAGGGGAAGGGGAAAGGGAAAGGAAGGGGAAGG GAAAGGAAGGGGGAGGGAAAGGAAAGGGGAAGGGAAGGGAAGGGGAAGGG AAGAGAAAGGAAGGGGAAGGGAAGGAGAAGGGGAGGGGAAGGGGAAGGGA AAAGAGAAGAAGAGGGGAAGGGGAGGGGAAGGAAGGGGAAAGGAAGGAAG GGGGAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGG GGAAGGGGAGGGGAAGGGAAAGGGAAGGGGAAGATGAAGGGGAAGGGAAA AGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAAGGAAGGGGAAGGGAGG GG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	242	0.0041	1101	c.927 others(1118): Show c.927+4822_927+4823insCCCCTCCCTTCCCCTTCCTTTCCCCTCC CCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCATCTTCCCCTT CCCTTTCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTC CCCCTTCCTTCCTTTCCCCTCCCCCTTCCTTCCTTTCCCCTTCCTTCCCC TCCCCTTCCCCTCTTCTTCTCTTTTCCCTTCCCCTTCCCCTCCCCTTCTC CTTCCCTTCCCCTTCCTTTCTCTTCCCTTCCCCTTCCCTTCCCTTCCCCT TTCCTTTCCCTCCCCCTTCCTTTCCCTTCCCCTTCCTTTCCCTTTCCCCT TCCCCTCCCCCTTCCCTTTCCCTTCCCTTCCCTTCCCCTTCCTTTCCATT CCCCTTCCCCTTCCTTCCACCTTCCCTTCCCCCCCTTCCTTTCCCCTTCC CCTCCCCTTCCCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTCC CCTTCCCTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCTTGCCTTCCCCTCCC CTTCCCTTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCCCCTTCTCCTCC CCTTCCCCTTCCCTTCCCCTTCCTTTCCCTTCCCTTCCATTCCCCTTTCC TTTCCCTCCCCCTTCCCCTTCCTTTCCCCTTCCCCTCCCCCTTCCCCTCC CCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCC CTCCCCCTTCCTTTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATTCCCC TTCCTTCCCTTCCTTCCTCTTCCATTCCCCTTCCCTTCCCTGCCCCCTCC CTCTCCCTTTCTTTCCCCTTCCCCTTCCCTTCCCTCCCCTTCCCCTCCTC TTCTCCTTCCTTTTCCCTTTCCCTTCATCTTCCCCTTCCCTTCCCCTTCC CTTCCTTTTCTCCTTCCCTTTTCCCTTCCCTTCCCCTTCCCCTTCCCTTC CCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCTTCCCCTCCC CCTTCCTTCCTTTCCCCTTCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251500	A A	AAGGGGGA others(1094): Show AAGGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGGG AAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGA AAAGGGAAGGAGAAAAGGAAGGGAAGGGGAAGGGAAGGGGAAGATGAAGG GAAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAGGGAAGG GGAAGGGGAAAGAAAGGGAGAGGGAGGGGGCAGGGAAGGGAAGGGAATGG AAGAGGAAGGAAGGGGAAGGAAGGGGAATGGAAAGGAAGGGGAAGGGGAA GGGAAGGGAAAGGGAAGGGGGAGGGGAAGGGGAAGGGGGGAGGGGAAGGG GGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGA AAGGAAGGGGAAGGGGGAGGGAAAGGAAAGGGGAATGGAAGGGAAGGGAA AGGAAGGGGAAGGGAAGGGGAAGGGGAGGAGAAGGGGAAGGGGAAGGGAA AAGGAAGGAGAAGAGGAAGGGAAGGGGAGGGGAAGGCAAGGGGAAAGGAA GGAAGGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGAAGGGAAG GGGAAGGGAAGGGGAAAGGGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGA GGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAAAGGAAGGGGGGGAAGG GAAGGTGGAAGGAAGGGGAAGGGGAATGGAAGGAAGGGGAAGGGGAAGGG AAGGGAAAGGGAAGGGGGAGGGGAAGGGGAAAGGGAAAGGAAGGGGAAGG GAAAGGAAGGGGGAGGGAAAGGAAAGGGCGAAGGGAAGGGAAGGGGAAGG GGAAGAGGAAAGGAAGGGGAAGGGAAGGAGAAGGGGAGGGGAAGGGGAAG GGAAAAGGAGAAGAAGAGGAGGGGAAGGGGAGGGAAGGGAAGGGAAAGGA AGGAAGGGGGAGGGAAAGGAAGGAAGGGGAGGGGAAGGGGAGGGGAAGGG GAGGGGAAGGGGAGGGGAAGGGAAAGGGAAGGGGAAGATGAAGGGGAAGG GAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAAGGAAGGGGAAGG GG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0114 a0003c0005t0001g0114	1	242	0.0041	1101	c.927 others(1118): Show c.927+4817_927+4818insCCCCTTCCCCTTCCTTTCCCCTCCCCTT CCCCTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCATCTTCCCCTTCCCT TTCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCT TCCTTCCTTTCCCTCCCCCTTCCTTCCTTTCCCTTCCCTTCCCTCCCCTT CCCCTCCTCTTCTTCTCCTTTTCCCTTCCCCTTCCCCTCCCCTTCTCCTT CCCTTCCCCTTCCTTTCCTCTTCCCCTTCCCCTTCCCTTCCCTTCGCCCT TTCCTTTCCCTCCCCCTTCCTTTCCCTTCCCCTTCCTTTCCCTTTCCCCT TCCCCTCCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCTTCCTTCCATT CCCCTTCCCCTTCCTTCCACCTTCCCTTCCCCCCCTTCCTTTCCCCTTCC CCTCCCCTTCCCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTCC CCTTCCCTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCTTGCCTTCCCCTCCC CTTCCCTTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCCCCTTCTCCTCC CCTTCCCCTTCCCTTCCCCTTCCTTTCCCTTCCCTTCCATTCCCCTTTCC TTTCCCTCCCCCTTCCCCTTCCTTTCCCCTTCCCCTCCCCCTTCCCCTCC CCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCCTTCCCCTTCC CCTCCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATTCC CCTTCCTTCCCCTTCCTTCCTCTTCCATTCCCTTCCCTTCCCTGCCCCCT CCCTCTCCCTTTCTTTCCCCTTCCCCTTCCCTTCCCCTCCCCTTCCCCTC CTCTTCTCCTTCCTTTTCCCTTTCCCTTCATCTTCCCCTTCCCTTCCCCT TCCCTTCCTTTTCTCCTTCCCTTTTCCCTTCCCTTCCCCTTCCCCTTCCC TTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCC TCCCCCTTCCTTCCTTTCCCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
BTRC_chr10_101349165_101562313	101495840	C C	CATCCACC others(1094): Show CATCCACCCAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGGACA TATCATATTTATTCATACACATGCTGGAATTATTGGTGCAGACATTTAAA TACATTTTCTTTGAGAAAGTCCTTTTTTTTTTTTTTTTTTTGATGGAGTT TCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCACAA CAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTTTTATT TTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTTGAACTCC TGATCTCAGGTGATCTGCCCACCTTGGCCTGCCACAGTGCTGGGATTACA GTCGTGAGCCACCACAGCTGGCCTGGGAAAGTCCATTCTTTTTTTTCTTT TTTTTTTTTTTTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTC TCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTC AGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACC CCGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATT GGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAG CACATCTTGCACTGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACA TGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCC CAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCAT GTCTACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTT TCCCCACCTTTCCCGCCTTTCTATTCCACAATGCCGCCATTGTCATCCTG GCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02056.hp1 HG01978.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0005g0209 a0001c0001t0005g0210	2	266	0.0075	1101	c.324 others(1120): Show c.324+16398_324+16399insTTTTTTTTTTTTTTTTTTTTTTTTTT AAAGGACATATCATATTTATTCATACACATGCTGGAATTATTGGTGCAGA CATTTAAATACATTTTCTTTGAGAAAGTCCTTTTTTTTTTTTTTTTTTTG ATGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACAACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTT TTTTTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCT TGAACTCCTGATCTCAGGTGATCTGCCCACCTTGGCCTGCCACAGTGCTG GGATTACAGTCGTGAGCCACCACAGCTGGCCTGGGAAAGTCCATTCTTTT TTTTCTTTTTTTTTTTTTTTTTAAATTTATTTTTTTATTGATAATTCTTG GGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAG GGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGC AGAGGACCCCGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGAT TAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTT TAACAAAGCACATCTTGCACTGCCCTTAATCCATTTAACCCTGAGTGGAC ACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAA CAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAG TCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCATCCGATTTCT CAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAATGCCGCCATTG TCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGG TGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTG ACCCCCCCCAATCCACCCAGATTTT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNA1C_chr12_2047987_2702950	2539393	G G	GGCAGGGT others(1094): Show GGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGGG CCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATA AAGATGCAGGCACGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAG GCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTT AAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTA AGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCT TCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGA TGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAG GGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGG ACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGA GGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCAT AAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCA GGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGC TTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAG AT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0036 a0001c0004t0036	a0001c0004t0036g0099 a0001c0004t0036g0099	1	104	0.0096	1101	c.139 others(1122): Show c.1391-10503_1391-10502insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGCAGGCAG GGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCACGGTTTAAGG ACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGA GGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCAT AAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCA GGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGC TTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAG ATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCA GGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAG GACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGG AGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCA TAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGC AGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGT TTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGGTTTAAGGACTTAAG GAGGGCTTCATAAAGATGCAGGCAGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(1094): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGGGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGG CGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGG GGGCGGGGTGTGTACGGGGCGGGTGAATAGACGGTCGGCATGCATAGGGC CGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAG GGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCA TAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCAT GCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATG TGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGG CATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGT CGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGAC GGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCG AGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0008 a0007c0004t0008	a0007c0004t0008g0277 a0007c0004t0008g0277	1	338	0.0030	1101	c.300 others(1118): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGGGGC GGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCC GGGGGCGGGGTGTGTACGGGGCGGGTGAATAGACGGTCGGCATGCATAGG GCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCAT AGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATG CATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGC ATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCA TGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTC GGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACG GTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAG ACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGA GTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGG CGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGG CGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGG GGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(1094): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCG AGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGG GCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGG CGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGG GGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGC GGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCC GGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGG GCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCAT AGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTG CGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGG CGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG CG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0030 a0030	a0030c0054 a0030c0054	a0030c0054t0003 a0030c0054t0003	a0030c0054t0003g0130 a0030c0054t0003g0130	1	338	0.0030	1101	c.300 others(1118): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACG TGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGG GGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGC CGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAG GGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCA TAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCAT GCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGG CATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGT CGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGAC GGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTA GACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGA GTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGG GTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGCGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CFAP61_chr20_20047532_20365698	20356388	T T	TAGTGTGA others(1094): Show TAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAC AGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCA CACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACACTGGGGAGGTCACACTGTGAGGGGAGGTGGTCACACTGA GAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGGGGA GGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACA CTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACACTGGGGAGGTGGTCACACTGTG AGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTG GTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAAGTGG TCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAG TGAGGAGGTAGTCACACTGAGGGGAGGTGGTCATACTGCGAGTGGAGGTA GTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTGA GGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGG TCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGT CACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGG GGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC AC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0025 a0025	a0025c0046 a0025c0046	a0025c0046t0001 a0025c0046t0001	a0025c0046t0001g0058 a0025c0046t0001g0058	1	236	0.0042	1101	c.351 others(1120): Show c.3514-3710_3514-3709insGTGGTCACACTGAGGGGAGGTGGTCA TAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGA GGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCAT AGTGTGAGGGGAGGTGGTCACACTGGGGAGGTCACACTGTGAGGGGAGGT GGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGT CACACTGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGG AGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGGGGAGGTG GTCACACTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACT GAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGG TCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTG AGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGTGGTCATACTGC GAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGT GGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTG AGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGA GGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGG TCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAG GGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCACAGTGTGAGGGGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356388	T T	TAGTGTGA others(1094): Show TAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAC AGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGAG GAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATA GTGTGAGGGGAGGTGGTCACACTGGGGAGGTCACACTGTGAGGGGAGGTG GTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTC ACACTGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGA GGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACT GAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGGGGAGGTGG TCACACTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTG AGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGT CACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGA GGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGTGGTCATACTGCG AGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTG GTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTGA GGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGG TCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGT CACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGG GGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC AC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	236	0.0042	1101	c.351 others(1120): Show c.3514-3710_3514-3709insGTGGTCACACTGTGAGGGGAGGTGGT CACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGG AGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGGGGAGGTCACACTGT GAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGG TCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAG GGGAGGTGGTCACACTGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCA CACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC TGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGG TGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGA GGGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGT AGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAG GGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGTG GTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACT GAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGG TCATACTGTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTG AGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGA GGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGG TCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAG GGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCACAGTGTGAGGGGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
DBNDD1_chr16_89999871_90024456	90003800	C C	CACCTTTA others(1094): Show CACCTTTACGTGCACGTGGGGCGGGACTTCTTTGACTCCCTCCCCTGGCC CGGGCCACCTTTACGTGCACGTGGGGTGGGACTTCTGTGACTCCCTCCCC TGCCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCC TCCCCTGGCCTGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTGTGA CTCCCTCCCCTGCCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGTGGG ACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGG GTGGGACTTCTGTGACTCCCTCCCCTGCCCCGGGCCACCTTTACGTGCAC GTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCTGGGCTACCTTTACG TGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGCCCCGGGCCACCT TTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGCCCCGGGC CACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCC TGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCC TGCCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCC TCCCCTGGCCTGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGA CTCCCTCCCCCGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTC TGTGACTCCCTCCCCTGGCCTGGGCTACCTTTACGTGCACGTGGAGCGGG ACTTCTGTGACTCCCTCCCCTGGCCTGGGCTACCTTTACGTGCACGTGGA GCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGGCCACCTTTACGTGCA CGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCTACCTTTAC GTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCTGGGCCACC TTTACGTGCACGTGGGGCGGGACTTCTATGACTCCCTCCCCCGGCCCGGG CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	412	0.0024	1101	c.25 others(1112): Show c.2534_*2535insAGCCCGGGCCGGGGGAGGGAGTCATAGAAGTCCC GCCCCACGTGCACGTAAAGGTGGCCCAGGCCAGGGGAGGGAGTCACAGAA GTCCCGCCCCACGTGCACGTAAAGGTAGCCCGGGCCGGGGGAGGGAGTCA CAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCCGGGCCAGGGGAGG GAGTCACAGAAGTCCCGCTCCACGTGCACGTAAAGGTAGCCCAGGCCAGG GGAGGGAGTCACAGAAGTCCCGCTCCACGTGCACGTAAAGGTAGCCCAGG CCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTAGC CCGGGCCGGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAG GTGGCCCAGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACG TAAAGGTGGCCCGGGGCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGT GCACGTAAAGGTAGCCCAGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCC CACGTGCACGTAAAGGTGGCCCGGGGCAGGGGAGGGAGTCACAGAAGTCC CGCCCCACGTGCACGTAAAGGTGGCCCGGGGCAGGGGAGGGAGTCACAGA AGTCCCGCCCCACGTGCACGTAAAGGTAGCCCAGGCCAGGGGAGGGAGTC ACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGGGCAGGGGAGG GAGTCACAGAAGTCCCACCCCACGTGCACGTAAAGGTGGCCCGGGCCAGG GGAGGGAGTCACAGAAGTCCCACCCCACGTGCACGTAAAGGTAGCCCGGG CCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGC CCGGGGCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAG GTAGCCCAGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACG TAAAGGTGGCCCGGGGCAGGGGAGGGAGTCACAGAAGTCCCACCCCACGT GCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCAAAGAAGTCCCGCCC CACGTGCACGTAAAGGT	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1070		chr16	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1094): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGAGGGAGGAG GAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGG AGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGG GAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGG GAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAG GAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAG GAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGA GGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGG GAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGGAGGAGGGAGGAGGAGGAG GGAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAG GAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAG GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAG GAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAG GGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGAG GAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGA GGAGGAGGAGGGAGGAGGAGGAGGGAGAAGGAGGAGGGAGGAGGGAGGAG GGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGG AGGGAGGAGGAGGAGGAGGAGGGGGGAGGAGGGAGGAGGGAGGAGGAGGA GGGGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGG AG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0001 a0001c0002t0004g0001	1	252	0.0040	1101	c.118 others(1120): Show c.11806-562_11806-561insCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCTCCTCCCTCCT CCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCC TCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTTC TCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCT CCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCC TCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCC TCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCC TCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCCTCCTCCCTCCTCCCTCC CTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCC TCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCT CCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTC CTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCTCCTCC CCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCC TCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCC CCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTC CCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCTCCTCCTCCTCCCT CCTCCTCCTCCTCCTCCCTCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCT CCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTC CTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1094): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGGAGGAG GAGGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGA GGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGA GGAGGAGGGAGGAGGGGGAGGGGGGAGGAGGGGGAGGAGGGAGGAGGGGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAG GAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGA GGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGA GGAGGGAGGAGGAGGAGGGAGGGAGGAGGGAGGAGGAGGAGGGAGGGAGG AGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGA GGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGA GGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGA GGAGGAGGGAGGAAGGAGGAGGGAGGGAGGAAGGAGGAGGGAGGAAGGAG GAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGAAGG AGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGA GGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGG AGGAGGAGGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGA GGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGG AG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0059 a0059	a0059c0230 a0059c0230	a0059c0230t0001 a0059c0230t0001	a0059c0230t0001g0006 a0059c0230t0001g0006	1	252	0.0040	1101	c.118 others(1120): Show c.11806-562_11806-561insCTCCTCCTCCTCCCTCCTCCTCCTCC CTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CCTCCTCCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCC CTCCTCCCTCCTCCCTCCTCCCTCCTCCTTCTCCCTCCTCCTCCTCCCTC CTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTC CCTCCCTCCTCCTTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCT CCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTC CTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCT CCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCT CCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCCTCCTCCCT CCTCCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCT CCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTC CTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCT CCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCC TCCCCCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCC CTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTC CCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCTCCCT CCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCTCCTCCTCCTCCCT CCTCCTCCTCCTCCTCCCTCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCT CCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTC CTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
FBXL14_chr12_1560993_1599581	1574458	C C	CGTGTGGG others(1094): Show CGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGAGAGGAGGCTGG TGGCAGCAGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCGGT GTGGATGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGA GGCTGGGGTGAGGGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCAGCGGT GTGGGTGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTG GAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGG TGAGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGGAG GCTGGTGGCAGTGGTGTGGGTGGAGGCTGGGGTGGGGGGAGGCTGGTGGC AGCGGTGTGGATGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTG GGTGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGC TGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGA GGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTAGGGGAGGCTGG CGGCAGCAGCGGTGTGGGCGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAG CGGTGTGGGTGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGG TGGAGGCTGGGGTGGAGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTG GGGTAGGGGAGGCTGGCGGCAGCAGCGGTGTGGGCGGAGGCTGGGGTGAG GGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTG GCAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCG GTGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCGGTGTGGGTGG AGGCTGGGGTGAGGGGAGGCTGGTGGCAGCAGTGTGGATGGAGGCTGGGG TGGGGGAGGCTGGCGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGG CTGGTGGCAGCAGTGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAG CG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0028 a0001c0004t0006g0028	1	418	0.0024	1101	c.119 others(1120): Show c.1195-7649_1195-7648insCGCTGCCGCCAGCCTCCCCCACCCCA GCCTCCATCCACACTGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCATC CACACCGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACTGCTG CCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCCGCCAGCC TCCCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCACC CCAGCCTCCACCCACACCGCTGCTGCCAGCCTCCCCTCACCCCAGCCTCC ATCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCGCCCACACC GCTGCTGCCGCCAGCCTCCCCTACCCCAGCCTCCACCCACACCGCTGCCA CCAGCCTCCCTCCACCCCAGCCTCCACCCACACCGCTGCCACCAGCCTCC CCCCACCCCAGCCTCCACCCACACCGCTGCCACCAGCCTCCCCTCACCCC AGCCTCCGCCCACACCGCTGCTGCCGCCAGCCTCCCCTACCCCAGCCTCC ATCCACACCGCTGCCACCAGCCTCCCTCCACCCCAGCCTCCACCCACACC GCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCACACCGCTGCCACC AGCCTCCCCCCACCCCAGCCTCCACCCACACCGCTGCCACCAGCCTCCCC CCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCCACCCCAG CCTCCACCCACACCACTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCC ACACCGCTGCCACCAGCCTCCCCTCACCCAGCCTCCACCCACACCGCTGC CACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCGCCAG CCTCCCCCACCCCAGCCTCCACCCACACCGCTGCTGCCACCAGCCTCCCC CACCCCAGCCTCCCCTCACCCCAGCCTCCACCCACACTGCTGCCACCAGC CTCCTCTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCAC CCCAGCCTCCACCCACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTC CCCTCACCCCAGCCTCCACCCACAC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
GLIS2_chr16_4311067_4344595	4344496	C C	CCGTGAGA others(1094): Show CCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGG GACTGTGTGAGAGGAGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGA GTGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAG AGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTG TGAGAGGAGGGGACTGTGTGAGAGGAGGGGTTCCGTGAGAGGAGGGGATT GTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGG GATTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGG GGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGACTGTGTGAGAG GAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTG AGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTG TGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTCTGAGAGGAGGGG ACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGA GGGGACTGTGTGAGAGGAGGGGATTCCGTGAGAGGAGGGGATTGTGTGAG AGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTCTGT GAGAGGAGGGGGTTGCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTT CTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGG GGTTCTCTGAGAGGAGGGGACTGTGTAGAGGGAGGGGGTTCCGTGAGAGG AGGGGGTTCGTGAGAGGAGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGA GGAGGGGACTGTGTGAGAGGAGGGGGGTTCTGTGAGAGGAGGGGGTTCCG TGAGAGGAGGGGATTGTGTGAGAGGGGGTTCTGTGAGAGGAGGGGGTTCT GTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGG TTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAGAGGAT TG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0112 a0001c0004t0001g0112	1	395	0.0025	1101	c.69 others(1112): Show c.6972_*6973insCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGT TCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGTTCTGTGAGAGGAGGG GGTTCTGTGAGAGGAGTGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGG AGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGA GAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGTTCCG TGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGT TCTGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGG GGACTGTGTGAGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGAG GGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGA GGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGT GAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTT CTCTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGG GGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGATTCCGTGAGAGG AGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGA GAGGAGGGGGTCTGTGAGAGGAGGGGGTTGCGTGAGAGGAGGGGATTGTG TGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGAC TGTGTGAGAGGAGGGGGTTCTCTGAGAGGAGGGGACTGTGTAGAGGGAGG GGGTTCCGTGAGAGGAGGGGGTTCGTGAGAGGAGGGGTTCTGTGAGAGGA GGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGGTTCTGTGA GAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGGGGTTCTGTG AGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTC TGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGG GTTCCGTGAGAGGATTG	GLIS2	ENSG00000126603.9	transcript	ENST00000433375.2	protein_coding		4902		chr16	TogoVar
HBQ1_chr16_175459_186179	186136	G G	GGAGGAAC others(1094): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGA CACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	1101	c.50 others(1112): Show c.5028_*5029insGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4958		chr16	TogoVar
HPCAL1_chr2_10297904_10432604	10399225	A A	ACCACCGC others(1094): Show ACCACCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCATCA CCACCACCACCATCACCGCCACCACCATCACCATCACCACCACCACCACC ACCACCATCACCACCACCACCATCACCATCACCATCACCGCCACCACCAT CACCACCACCACCACCACCACCACCACCACCATCACCATCATCACCACCA CCACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACC ACCACCGCCACCACCACCACCATCACCGCCACCACCATCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCATCATCACCACCA CCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACC ACCGCCACCACCACCACCATCACCGCCACCACCATCACCATCACCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCGCCACCACCATCA CCATCATCACCACCACCACCACCATCACCACCACCACCACCACCACCGCC ACCACCACCACCATCACCGCCACCACCACCACCATCACCACCACCACCAT CACCATCACCACCACCACCACCACCACCACCACCGCCACCACCACCACCA CCACCACCATCACCACCACCACCACCATCACCACCGCCACCACCACCACC ATCACCACCACCACCATCACCATCATCACCACCACCACCACCACCATCAC CACCACCATCACCACCATCACCACCACCATCACCACCGCCACCACCACCA CCATCACCACCACCACCACCACCACCATCACCACCACCACCACCATCACC ACCACCATCATCACCACCATCACCACCACCATCATCACCACCATCACCAC CGCCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCA CCACCACCATCACCACCACCATCATCACCACCATCACCACCACCATCATC ACCACCATCATCACCACCATCACCACCACCATCATCACCACCATCACCAC CG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	314	0.0032	1101	c.-25 others(1118): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCACCACCACCACCACCACCATCACCATCATCACCACCACC ACCACCACCACCATCACCACCACCACCATCACCGCCACCACCATCACCAT CACCACCACCACCACCACCACCATCACCACCACCACCATCACCATCACCA TCACCGCCACCACCATCACCACCACCACCACCACCACCACCACCACCATC ACCATCATCACCACCACCACCACCACCACCACCACCACCATCACCATCAT CACCACCACCACCACCACCACCGCCACCACCACCACCATCACCGCCACCA CCATCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATC ACCATCATCACCACCACCACCACCACCACCACCACCATCACCATCATCAC CACCACCACCACCACCACCGCCACCACCACCACCATCACCGCCACCACCA TCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCATC ACCGCCACCACCATCACCATCATCACCACCACCACCACCATCACCACCAC CACCACCACCACCGCCACCACCACCACCATCACCGCCACCACCACCACCA TCACCACCACCACCATCACCATCACCACCACCACCACCACCACCACCACC GCCACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCAC CGCCACCACCACCACCATCACCACCACCACCATCACCATCATCACCACCA CCACCACCACCATCACCACCACCATCACCACCATCACCACCACCATCACC ACCGCCACCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CACCACCACCATCACCACCACCATCATCACCACCATCACCACCACCATCA TCACCACCATCACCACCGCCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCACCACCATCACCACCACCATCATCACCACCAT CACCACCACCATCATCACCACCATCATCACCACCATCACCACCACCATCA TCACCACCATCACCACCGCCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
ICA1_chr7_8108184_8267167	8152561	C C	CACCACCA others(1094): Show CACCACCACCACCACCATCTCCTCCACCACCACTACCACCACCACCATTA TCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCTTCCACC ACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATCTCCTC CACCACCACTACCACCACCACCACCATCTCCTTCACCACCACTACCCCCA GCACTACCATCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACC ACTACCACCACCACCACCATTATCTCCTTCATCACCACTACCCCCACCAC TACCACCATCACCATCACCTCCACCACCACCACCACCACCACCACCACCA TCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCACC ATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCAC CACTATCACCATCACCATCACCTCCACCACCACCACCACCATCTCCTTCA ACACCACTACCCCCAGCACCACCACCATCACCTCTTCCACCACTACCACC ATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCACCAC CACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCA CCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATC ACCATCACCTCCACCACCACCACCATCTCCTTCACCACCACTACCCCCAC CACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCA CCACCACCACCACAATTATCTCCTTCATCACCACTACCCCCACCACTACC ACCATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTT CATCACCACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCA CCACCATCTCCTTCAACACCACTACCCCCAGCACTACCACCATCACCTCT TCCACCACTACCACCATCTCCTCCACCACCACCACCACCACCACAATTAT CTCCTTCATCACCACTACCCCCACCACTACCACCATCTCCTCCACCACCA CT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	274	0.0037	1101	c.804 others(1118): Show c.804+4554_804+4555insAGTGGTGGTGGAGGAGATGGTGGTAGTG GTGGGGGTAGTGGTGATGAAGGAGATAATTGTGGTGGTGGTGGTGGTGGT GGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGG TAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTG ATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGT GGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGA AGGAGATAATTGTGGTGGTGGTGGTGGTGGTGGAGGAGATGGTGGTAGTG GTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGAT GGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGG TGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTG ATGGTGGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGATAATGGTGGTGGT GGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGG TGGTGGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGTG GAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGAT GGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGG TGGGGGTAGTGGTGATGAAGGAGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGA GATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGG TGGAAGAGGTGATGATGGTAGTGCTGGGGGTAGTGGTGGTGAAGGAGATG GTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTGGTGGTGGTAGT GGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGG TGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTAGTGGTGGTG GAGGAGATGGTGGTGGTGGTGGT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8152561	C C	CACCACCA others(1094): Show CACCACCACCACCACCATCTCCTCCACCACCACTACCACCACCACCATTA TCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCTTCCACC ACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATCTCCTT CACCACCACTACCCCCACCACCATTATCTCCTTCACCACCACTACCCCCA GCACTACCATCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACC ACTACCACCACCACCACCATTATCTCCTTCATCACCACTACCCCCACCAC TACCACCATCACCATCACCTCCACCACCACCACCACCACCACCACCACCA TCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCACC ATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCAC CACTATCACCATCACCATCACCTCCACCACCACCACCACCATCTCCTTCA ACACCACTACCCCCAGCACCACCACCATCACCTCTTCCACCACTACCACC ATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCACCAC CACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCA CCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATC ACCATCACCTCCACCACCACCACCATCTCCTTCACCACCACTACCCCCAC CACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCA CCACCACCACCACAATTATCTCCTTCATCACCACTACCCCCACCACTACC ACCATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTT CATCACCACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCA CCACCATCTCCTTCAACACCACTACCCCCAGCACTACCACCATCACCTCT TCCACCACTACCACCATCTCCTCCACCACCACCACCACCACCACAATTAT CTCCTTCATCACCACTACCCCCACCACTACCACCATCTCCTCCACCACCA CT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0067 a0001c0001t0009g0067	1	274	0.0037	1101	c.804 others(1118): Show c.804+4554_804+4555insAGTGGTGGTGGAGGAGATGGTGGTAGTG GTGGGGGTAGTGGTGATGAAGGAGATAATTGTGGTGGTGGTGGTGGTGGT GGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGG TAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTG ATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGT GGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGA AGGAGATAATTGTGGTGGTGGTGGTGGTGGTGGAGGAGATGGTGGTAGTG GTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGAT GGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGG TGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTG ATGGTGGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGATAATGGTGGTGGT GGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGG TGGTGGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGTG GAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGAT GGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGG TGGGGGTAGTGGTGATGAAGGAGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGA GATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGG TGGAAGAGGTGATGATGGTAGTGCTGGGGGTAGTGGTGGTGAAGGAGATA ATGGTGGTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGT GGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGG TGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTAGTGGTGGTG GAGGAGATGGTGGTGGTGGTGGT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IMPDH1_chr7_128387277_128414982	128414326	G G	GGCTGGAG others(1094): Show GGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAAGCTCCGCCTCCAA GGTTCATGCCATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGG CACCCGCCACCACGCCCGGCTAATTTTTTGTATATTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCGTGAGCTGC CCACCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGTGCC CGGCCGATAGAGCTCTTTTCAATCTGATGTCTTATCCTTTGCAGTGCCTC AAACTAGATCCTGTTCAGACATGTTATAAAAAGTTAGTATGAATGTATTT TGTTGCAAAAAAATTGAAGTCCAGGCATAGTTTTTTTCATAATATACATT TTCCATGAACTTTTTGAAGACCCATCATATATCAAAGCAGACTAGGGCTA GATTCTGCAATTAGGTGGGCCTTGGTCCAAATCTGGGCTTACTATATAAT TACCCAAGTCATGAACTCTCTCTGAGCCACAGTTGCCTCATCTTTCAAAT GGAGCTAATACTGTCTATAAGGTTGTTTTATAATTAACAAGATAACACAT GTAAAGTTCTTGGTACATAGTAGGCTCTTAATAAACACAAGTAATGATTA TTGTAAACTAAGTAAGCTGTATCTAACTTCTATACTTTTGACCCCCAGCT AAATATAATACATAATTTCTATTATATAGCCATTCAACAAATGTTTATTG GGCACCTCTCATGTGCCAACTAGATGCTGGGAGTATAATGGTGAGCAAGA TGTTCATTGTTTTTACTGTCACGGGCCTTAAAGTCCAGGGGGCTGGGAGA CGAGCAGGCAACTAGAAGACAATGTGGGAAGTGCTCTAGCAGAGAAGGAC ACCCCTCCACACAGCCCAGACACCCAGGCAACACACAGACAGGGCCAGAT GTTCTGAGAAAGAAATGCTTTGGGGCCACTTTAAAAGCTCCTGGAGGTAG GCAGAATATAACACATAAATGAACACACATACATAATGAGAGTACTCGAG TAGTGGCTGAGACCTGGCACGCAATACAGAGCAGCTCTGCCTTATCTCCA GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0014	1	414	0.0024	1101	c.-44 others(1112): Show c.-4426_-4425insTCTGGAGATAAGGCAGAGCTGCTCTGTATTGCGT GCCAGGTCTCAGCCACTACTCGAGTACTCTCATTATGTATGTGTGTTCAT TTATGTGTTATATTCTGCCTACCTCCAGGAGCTTTTAAAGTGGCCCCAAA GCATTTCTTTCTCAGAACATCTGGCCCTGTCTGTGTGTTGCCTGGGTGTC TGGGCTGTGTGGAGGGGTGTCCTTCTCTGCTAGAGCACTTCCCACATTGT CTTCTAGTTGCCTGCTCGTCTCCCAGCCCCCTGGACTTTAAGGCCCGTGA CAGTAAAAACAATGAACATCTTGCTCACCATTATACTCCCAGCATCTAGT TGGCACATGAGAGGTGCCCAATAAACATTTGTTGAATGGCTATATAATAG AAATTATGTATTATATTTAGCTGGGGGTCAAAAGTATAGAAGTTAGATAC AGCTTACTTAGTTTACAATAATCATTACTTGTGTTTATTAAGAGCCTACT ATGTACCAAGAACTTTACATGTGTTATCTTGTTAATTATAAAACAACCTT ATAGACAGTATTAGCTCCATTTGAAAGATGAGGCAACTGTGGCTCAGAGA GAGTTCATGACTTGGGTAATTATATAGTAAGCCCAGATTTGGACCAAGGC CCACCTAATTGCAGAATCTAGCCCTAGTCTGCTTTGATATATGATGGGTC TTCAAAAAGTTCATGGAAAATGTATATTATGAAAAAAACTATGCCTGGAC TTCAATTTTTTTGCAACAAAATACATTCATACTAACTTTTTATAACATGT CTGAACAGGATCTAGTTTGAGGCACTGCAAAGGATAAGACATCAGATTGA AAAGAGCTCTATCGGCCGGGCACGGTGGCTCATGTCTGTAATCCCAGCAC TTTGGGAGGCCGAGGTGGGCAGCTCACGAGGTCAAGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGC CGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGC AGGAGGATGGCATGAACCTTGGAGGCGGAGCTTGCAGTGAGCCAAGATTG CACCACTGCACTCCAGC	IMPDH1	ENSG00000106348.19	transcript	ENST00000338791.11	protein_coding		4345		chr7	TogoVar
KIF26B_chr1_245149985_245714432	245442791	G G	GGTCATCT others(1094): Show GGTCATCTCCCTCACTGTTCACCTACAGCGGTCATCTCCCTCACTGTTCA CCTACAGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTC ACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCA TCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAG AGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTCACTGT TCACTTAGAGGAGAGGTCATCTCCCTCACTGTTCACCTAGAGCTGTCATC TCCCTCACTGTTCACTTAGAGGAGAGGTCATCTCCCTCACTGTTCACCTA GAGCTGTCATCTCCCTCACTGTTCACCTACAGCGGTCATCTCCCTCACTG TTCACTTAGAGGAGAGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCT CCCTCACTGTTCACCTAAAGCGGTCATCTCCCTCACTGTTCACCTAGAGC TGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCTCTCACTGTTCACC TAGAGGAGAGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCA CTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCATCTAGAGGAGAGGT CATCTCCCTCACTGTTCATCCTGCGGTCATCTCCCTCACTGTTCACCTAG AGTGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCACCGTTC ACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCTCT CACTGTTCACCTAGAGGAGAGGTCATCTCCCTCACTGTTCACCCTGCGGT CATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCATCT AGAGGAGAGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCAC TGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCC TCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCCTGCGGTCATC TCCCTCACTGTTCACCTAGAGCTGTCATCTCCCTCACTGTTCACCTAGAG CT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0013 a0001c0020t0013	a0001c0020t0013g0086 a0001c0020t0013g0086	1	160	0.0063	1101	c.116 others(1122): Show c.1166+23128_1166+23129insGAGCGGTCATCTCCCTCACTGTTC ACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCT CACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTC ATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACTTA GAGGAGAGGTCATCTCCCTCACTGTTCACCTAGAGCTGTCATCTCCCTCA CTGTTCACTTAGAGGAGAGGTCATCTCCCTCACTGTTCACCTAGAGCTGT CATCTCCCTCACTGTTCACCTACAGCGGTCATCTCCCTCACTGTTCACTT AGAGGAGAGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCAC TGTTCACCTAAAGCGGTCATCTCCCTCACTGTTCACCTAGAGCTGTCATC TCCCTCACTGTTCACCCTGCGGTCATCTCTCTCACTGTTCACCTAGAGGA GAGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCA CCTAGAGCGGTCATCTCCCTCACTGTTCATCTAGAGGAGAGGTCATCTCC CTCACTGTTCATCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGTGGTC ATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCACCGTTCACCTAGA GCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCTCTCACTGTT CACCTAGAGGAGAGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCC CTCACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCATCTAGAGGAG AGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCAC CCTGCGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGT TCACCCTGCGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCA CTGTTCACCTAGAGCTGTCATCTCCCTCACTGTTCACCTAGAGCTGTCAT CTCCCTCACTGTTCACCTACAGCGGTCATCTCCCTCACTGTTCACCTACA GCGGTCATCTCCCTCACTGTTCACCTA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
LDLRAD3_chr11_35939062_36237136	36055110	A A	AGGGATAG others(1094): Show AGGGATAGTTGGATGAATGGATGGATGGATAGATGGATGGATGGATGGGT GGATGAATGGATGGATGGATGCATGGATGGATGGATGGATGGTTGGATGA ATGGATGGATGGGTGCATGGATGGATAGATGGATGGATGGATGGATGAAT GGATGGATGGGTGCATGGATGGATAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGCATGGATGGATGGACGATGGATACATGGATGCATG GATGGATGGATGCATGGATGGATGGATGATGGATACATGGATGCATGGAT GGATGGTTGGATGGATGGATGCATGGATGCATGGATGGATGGATGCATGG GTGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATAAATGGAT GCATGGATGCATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGCATGGATGGATGGATGAATGGATGGATGGATGGAT GGATGGATAGATGGATGAATGGATGAATGGATGAATGGATGGATGAGTAG GTGGAAGGGTAGATAGATAGATGGGTGGGTCAGTGGATGGATGGATAGTT GGGTGGTTGAGTAGGTGGATGGATGAATGGGTAGATTTATGGGCCGATGT GTAAAGACAGAGGTCTCTCATTCCACAACCACATGTCCTACTGGAAGCCT TCTCTCCCTTCCTATCCAGGCTAGGTAGATGCCCCTTGTCCCTGCTCCCA TAGCATTGCCTCTCTCTACATTTGACTTGTAAACAAGAAGATACAGTAAA CTGTTATAGTTTTCATTTTCCAAGGAATCAGATGCTTCAGTACAGCCAGG AAAAGGTCTGATACACCTTGTTCACTGTTATCCCCACACCAAACAACATT AGCTCCTGCTACATGGGAGATGCTTAGTACACTTTTGTTGAATGAATCAA TGAAAGAACAGTGAGTATTTACTAGTACTTGTGGGGGCAAATCATTGCTT GCATTCTTACATCTCTCTCACTACTGCTGTCTCAGAGCTAGTTTTCTCTT ACCAGGAGGCCAGATGGGATTGCTGAGCAAGAATAAGATTGCTTCCATCT GT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03041.hp1 HG01496.hp1 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0002c0003t0004 a0001c0001t0007 a0002c0003t0004	a0001c0001t0007g0045 a0002c0003t0004g0235 a0001c0001t0007g0045 a0002c0003t0004g0235	2	236	0.0085	1101	c.193 others(1120): Show c.193+18861_193+18862insGGGATAGTTGGATGAATGGATGGATG GATAGATGGATGGATGGATGGGTGGATGAATGGATGGATGGATGCATGGA TGGATGGATGGATGGTTGGATGAATGGATGGATGGGTGCATGGATGGATA GATGGATGGATGGATGGATGAATGGATGGATGGGTGCATGGATGGATAGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGCATGGATGGATG GACGATGGATACATGGATGCATGGATGGATGGATGCATGGATGGATGGAT GATGGATACATGGATGCATGGATGGATGGTTGGATGGATGGATGCATGGA TGCATGGATGGATGGATGCATGGGTGGATGGATGCATGGATGGATGGATG GATGGATGGATGGATAAATGGATGCATGGATGCATGGATGGATGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATAGATGCATGGATGGATG GATGAATGGATGGATGGATGGATGGATGGATAGATGGATGAATGGATGAA TGGATGAATGGATGGATGAGTAGGTGGAAGGGTAGATAGATAGATGGGTG GGTCAGTGGATGGATGGATAGTTGGGTGGTTGAGTAGGTGGATGGATGAA TGGGTAGATTTATGGGCCGATGTGTAAAGACAGAGGTCTCTCATTCCACA ACCACATGTCCTACTGGAAGCCTTCTCTCCCTTCCTATCCAGGCTAGGTA GATGCCCCTTGTCCCTGCTCCCATAGCATTGCCTCTCTCTACATTTGACT TGTAAACAAGAAGATACAGTAAACTGTTATAGTTTTCATTTTCCAAGGAA TCAGATGCTTCAGTACAGCCAGGAAAAGGTCTGATACACCTTGTTCACTG TTATCCCCACACCAAACAACATTAGCTCCTGCTACATGGGAGATGCTTAG TACACTTTTGTTGAATGAATCAATGAAAGAACAGTGAGTATTTACTAGTA CTTGTGGGGGCAAATCATTGCTTGCATTCTTACATCTCTCTCACTACTGC TGTCTCAGAGCTAGTTTTCTCTTACCAGGAGGCCAGATGGGATTGCTGAG CAAGAATAAGATTGCTTCCATCTGT	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5			chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36055112	A A	AGGGATAG others(1094): Show AGGGATAGTTGGATGAATGGATGGATGGATAGATGGATGGATGGATGGGT GGATGAATGGATGGATGGATGCATGGATGGATGGATGGATGGTTGGATGA ATGGATGGATGGGTGCATGGATGGATAGATGGATGGATGGATGGATGAAT GGATGGATGGGTGCATGGATGGATAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGCATGGATGGATGGACGATGGATACATGGATGCATG GATGGATGGATGCATGGATGGATGGATGATGGATACATGGATGCATGGAT GGATGGTTGGATGGATGGATGCATGGATGCATGGATGGATGGATGCATGG GTGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATAAATGGAT GCATGGATGCATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGCATGGATGGATGGATGAATGGATGGATGGATGGAT GGATGGATAGATGGATGAATGGATGAATGGATGAATGGATGGATGAGTAG GTGGAAGGGTAGATAGATAGATGGGTGGGTCAGTGGATGGATGGATAGTT GGGTGGTTGAGTAGGTGGATGGATGAATGGGTAGATTTATGGGCCGATGT GTAAAGACAGAGGTCTCTCATTCCACAACCACATGTCCTACTGGAAGCCT TCTCTCCCTTCCTATCCAGGCTAGGTAGATGCCCCTTGTCCCTGCTCCCA TAGCATTGCCTCTCTCTACATTTGACTTGTAAACAAGAAGATACAGTAAA CTGTTATAGTTTTCATTTTCCAAGGAATCAGATGCTTCAGTACAGCCAGG AAAAGGTCTGATACACCTTGTTCACTGTTATCCCCACACCAAACAACATT AGCTCCTGCTACATGGGAGATGCTTAGTACACTTTTGTTGAATGAATCAA TGAAAGAACAGTGAGTATTTACTAGTACTTGTGGGGGCAAATCATTGCTT GCATTCTTACATCTCTCTCACTACTGCTGTCTCAGAGCTAGTTTTCTCTT ACCAGGAGGCCAGATGGGATTGCTGAGCAAGAATAAGATTGCTTCCATCT GT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03139.hp1 HG03041.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0014 a0001c0002t0004 a0001c0002t0014	a0001c0002t0004g0048 a0001c0002t0014g0220 a0001c0002t0004g0048 a0001c0002t0014g0220	2	236	0.0085	1101	c.193 others(1120): Show c.193+18863_193+18864insGGGATAGTTGGATGAATGGATGGATG GATAGATGGATGGATGGATGGGTGGATGAATGGATGGATGGATGCATGGA TGGATGGATGGATGGTTGGATGAATGGATGGATGGGTGCATGGATGGATA GATGGATGGATGGATGGATGAATGGATGGATGGGTGCATGGATGGATAGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGCATGGATGGATG GACGATGGATACATGGATGCATGGATGGATGGATGCATGGATGGATGGAT GATGGATACATGGATGCATGGATGGATGGTTGGATGGATGGATGCATGGA TGCATGGATGGATGGATGCATGGGTGGATGGATGCATGGATGGATGGATG GATGGATGGATGGATAAATGGATGCATGGATGCATGGATGGATGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATAGATGCATGGATGGATG GATGAATGGATGGATGGATGGATGGATGGATAGATGGATGAATGGATGAA TGGATGAATGGATGGATGAGTAGGTGGAAGGGTAGATAGATAGATGGGTG GGTCAGTGGATGGATGGATAGTTGGGTGGTTGAGTAGGTGGATGGATGAA TGGGTAGATTTATGGGCCGATGTGTAAAGACAGAGGTCTCTCATTCCACA ACCACATGTCCTACTGGAAGCCTTCTCTCCCTTCCTATCCAGGCTAGGTA GATGCCCCTTGTCCCTGCTCCCATAGCATTGCCTCTCTCTACATTTGACT TGTAAACAAGAAGATACAGTAAACTGTTATAGTTTTCATTTTCCAAGGAA TCAGATGCTTCAGTACAGCCAGGAAAAGGTCTGATACACCTTGTTCACTG TTATCCCCACACCAAACAACATTAGCTCCTGCTACATGGGAGATGCTTAG TACACTTTTGTTGAATGAATCAATGAAAGAACAGTGAGTATTTACTAGTA CTTGTGGGGGCAAATCATTGCTTGCATTCTTACATCTCTCTCACTACTGC TGTCTCAGAGCTAGTTTTCTCTTACCAGGAGGCCAGATGGGATTGCTGAG CAAGAATAAGATTGCTTCCATCTGT	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5			chr11	TogoVar
LUC7L_chr16_183990_234449	186136	G G	GGAGGAAC others(1094): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGA CACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	350	0.0029	1101	c.30 others(1112): Show c.3061_*3062insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC TCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCT GTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCG TGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCC CCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTC CGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCC TCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCC CCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2853		chr16	TogoVar
MAP3K19_chr2_134959491_135052447	135033467	C C	CCCCGGAC others(1094): Show CCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTAACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCTGGGCAGAGGCCCCCCTCACCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCGCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCCCACCTCCCAGCAGGGGTGGCTGGGCAGAGGCGCCCC CCACCCCCCGGATGGGGCGGCCGGCCGGGGGGGCTAACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC TGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGG GTGGGGGGCTTACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGG CGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCCCCCCTCA CCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCGCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCCCACCTCCCAGCA GGGGCGGCTGGGCAGAGGCGCCCCCCACCCCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGAAGGGGTGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCC CT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0107 a0007c0012t0001g0107	1	334	0.0030	1101	c.-28 others(1120): Show c.-283-2968_-283-2967insAGGGAGGTGGGGGGGTCAGCCCCCGC CCGGCCAGCCACCCCTTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCAG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGGGGT GGGGGGCGCCTCTGCCCAGCCGCCCCTGCTGGGAGGTGGGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGCGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGGGCCTCTGCCCAGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCACCCCGTCCGGGA GGGAGGTGGGGGGGTAAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCTGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTTAGCCCCCCC GGCCGGCCGCCCCATCCGGGGGGTGGGGGGCGCCTCTGCCCAGCCACCCC TGCTGGGAGGTGGGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGCGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG TGAGGGGGGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTTAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGG	MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	2/12			chr2	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(1094): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGA AGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGG GAGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAG GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGG GGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGATGGGGAGGGGGAGGGG GGAGGGGGAGGGGAGGAGGGGAGGAAGGGGGAGGGGAGGGAGGAGGGGAG GAAGGGGGAGGGGGAGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGAG GAGGTGGGAGGGGGAGGGGAGGATGGGGAGGGGAGAAGGGGAGGGGAGGA GGGGAGGGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGAGGGGAGG AGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGA GGAGGGGAGGGGAGGAGGGGAGGAGGGGGAGGGGAGGAGGAGGAGGGGAG GAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGTAGGGGGAGGGGGGG AGGGGGAGGGGAGGGGGGAGGAAGGGGGAGGGAGGAGGGGAGGAAGGGGG AGGGAGGAGGGGAAGAAGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGA GGAGGGGGGAGGGGAGGAGGGGTGAGAGGAGGAGAGAGGAGGGGAGGAGG GGGAGGGGAGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGGAGGG GAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGG AGGGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGA GGAGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAG GGAGGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAGGGAAGGGAGGGGAG GGTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGAGGGGAG GG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	208	0.0048	1101	c.279 others(1116): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTCTCCACTCCTCCCTCCT CTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTCCCCTCCCCTCA TCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCCTTTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCC TCCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCTCTCTCCTCCTCTCA CCCCTCCTCCCCTCCCCCCTCCTCCCCTCCCCCTCCCCCTCCCTCCCCCT CCCCCTTCTTCCCCTCCTCCCTCCCCCTTCCTCCCCTCCTCCCTCCCCCT TCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTACTCCCCTCCTCCC CTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCTCCTCCCCTCCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCCT CCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTTCTCCCCTCCCCAT CCTCCCCTCCCCCTCCCACCTCCTCCCCTCCCCCCTCCCCCTCCCCCCTC CCCTCCCTCCCCCTCCCCCTTCCTCCCCTCCTCCCTCCCCTCCCCCTTCC TCCCCTCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCCCCTCCCCCT CCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCC TCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTTCCCCTC CCCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCCTTCCCTCCCTTCCCT TCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(1094): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCACCCTC CCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCT CCCCTCCCCCTTCCCCTTCCCTCTCCCCTCCCCCTCCCCTCCCCCTTCCC CTCCCCCTTCCCCTCCCCCTTCCCCTCCCCTCTCCCCTCCCCCCTCCCCT CC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	326	0.0031	1101	c.433 others(1118): Show c.433+1023_433+1024insGGAGGGGAGGGGGGAGGGGAGAGGGGAG GGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGG AGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGG GGAAGGGGGAGGGGAGGGGAAGGGGAGGGTGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(1094): Show TGGGGAGAGAAGGGGAGGGAGAAGGGGATGGGGAGAGAAGGGGATGGGGA GAGAAGGGGATGGGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGA GAAGGGGAGGGGGGAGACAAGGGGGAGAGAAGGGGAGGGGGAGACAAGGG GGAGAGAAGGGGAGGGGGAGAGGGGGGGAGAGGGGGAGGGGGAGAGAGGG GGAGAGAAAGGGAGGGGGAGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGAGAAGGGGA GAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGAAGGG GAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGAGAA GGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGGA GGGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAG GAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGGAGGGGGA GAGGGGGAGGAGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGGG AGGAGGGGGGAGGGGGGGAGGAGGGGGGAGGGGGAGAGGGGGAGAGGGGG AGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGG GAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGAGGGAGAGGG GGAAATGGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGA GGGCGAGTGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGA GAGGGCGAGAGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCAAGGGCGAGA GAGAGAGAGGGCGGGCGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGA GAGAGGGCGGGTGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGC GGGCAAGAGAGAGAGAGAGAGGGCGGTCAAGAGAGAGAGAGAGGGCGGGC AAGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGG GA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0032 a0032	a0032c0084 a0032c0084	a0032c0084t0001 a0032c0084t0001	a0032c0084t0001g0244 a0032c0084t0001g0244	1	308	0.0033	1101	c.371 others(1118): Show c.3718+654_3718+655insTCCCTCTCGCCCTCTCCCTCTCTCTCCC TCTCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGACC GCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCC TCTCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGC CCTCTCTCGCCCGCCCTCTCTCTCTCTCGCCCTTGCCCTCTCTCTCTTGC CCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCAC TCGCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCC TCTCTCTTGCCCCTTCCCATTTCCCCCTCTCCCTCTCCTCCCCCTCTCCC CCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCCC CCTCCTCCCCCCCTCCCCCCTCCTCCCCCCCTCCTCCCCCTCTCCCCCTC TCCCCCTCCCCCCTCCTCCCCCTCTCCCCCTCCCCCCTCCTCCCCCTCTC CCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCTCCCCCTC CTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCTCCCCC TCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCCTCCC CCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTCCTCCCCCTCT CCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTC CTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCC CTCTCTCCCCCTCCCTTTCTCTCCCCCTCTCTCCCCCTCCCCCTCTCCCC CCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTC CCCCTTGTCTCCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCTC CCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCC CTTCTCCCTCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
RIN3_chr14_92508781_92693994	92547356	T T	TATTATAA others(1094): Show TATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTT TATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAA ATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTA TAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTT TATTATTATAAAATAAATTATCTTTATATTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTA TTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAAT TATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATA AAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTA TTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCT TTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATA AATTATCTTTATTTTATTATTATAAAATAAATTATCTTTTATTATAAAAT AAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTA TCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTT ATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATA AAATAAATTATCTTTATTTTATAATTATAAAATAAATTATCTTTATTTTA TAATTATAAAATAATCTTTATTTTATAATTATAAAATAATCTTTATTTTA TAATTATAAAATAATCTTTATTTTATAATTATAAAATAATCTTTATTTTA TAATTATAAAATAATCTTTATTTTATAATTATAAAATAATCTTTATTTTA TTATTATAAAATAATCTTTATTTTATTATTATAATAAATTATCTTTATTA CA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0285 a0004c0004t0001g0285	1	334	0.0030	1101	c.45- others(1116): Show c.45-8393_45-8392insTATAAAATAAATTATCTTTATTTTATTATT ATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATT TTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTA TCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAA ATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATATTATT ATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTT ATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAA TTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTAT TTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATT ATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTT TATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTAT AAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATA AATTATCTTTTATTATAAAATAAATTATCTTTATTTTATAATTATAAAAT AAATTATCTTTATTTTATAATTATAAAATAATCTTTATTTTATAATTATA AAATAATCTTTATTTTATAATTATAAAATAATCTTTATTTTATAATTATA AAATAATCTTTATTTTATAATTATAAAATAATCTTTATTTTATAATTATA AAATAATCTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTATA ATAAATTATCTTTATTACAAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RYR3_chr15_33305967_33871102	33820898	T T	TGTGGCTC others(1094): Show TGTGGCTCGCCCACCAGCAGTGTGTGAGTTGGCAAGTCTGCCTTAATAAA GCACACTCATTAGCTGTGGTTCTCTTGTCTCTCTGCCCATGAAAAGGTAG CAGGTAGTATGCCAGTCAGCAAACCACTAGCTTTGTTCTTGTGGGAAATT GTACTCAATTACTGTAATAACAGGGGCCATAGAAGGACAAACTGAAACAT CTAAAATGAAAAAGTCAGAAAAATGAAAATCAGGCCAAGCGTGGTGGCTC ACACCTGTAATCCCAGCTCTTTGGGAGGCCAGGGGAGGGAAGATCACTTG AGCTTAGAAGTTCGAGACCAGTCTGGGCAACATAGGGAGACCTACCTCAT CTATACAAAAAATAAAAAATTAGTTGGGTATGGTGGTGTGCTCCTGTAGT CCCAGCTGCTCAGGAGGCAGAGGTAGGAGGATAGTTTGAGCCCAAGTATT TGAGGCTGCAGTGAGTTCTGATTGCACCCTGCACTCCAGGCTGGGCGACA GAGTAACATCCAGTGTCTCAAAAAAAAAAAAAAAAAAAAAGATTAAAAAA TCAGAGGAATGGAGACACTTGAATGGTTTTTGTGCTATTATTCTATAAAT GCAAGTTGATAGTGATTTTTATTTTGAGGCAGTACAGGACCCTGCAATTC TCAAGATTAAACTATATTAGGTTACTTGTACTCTTTTGTAGACAAAGCAC ATGACAAAACACAGCAGAAGTAAATGACTATAATTACAGTCTGGAAAGCT TTGACATTCTCATAACCCATGTCTGATAGAAAGTGTGCGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGTGGCCAAGGCGGGTGGATCACCTGAAGTC AGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAA AAATACAAAAATTAGCTTGGTGTGGTGGCATACGCCTGTAATCCCAGCTA CTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCAGACGTTG CAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGCGACAGAACAAG ACTCCGTCTCAAAAAAAAATGTGTTAGCTGTGGTCTGAGCATTCCAGAGA AG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0099 a0001c0099	a0001c0099t0002 a0001c0099t0002	a0001c0099t0002g0139 a0001c0099t0002g0139	1	154	0.0065	1101	c.108 others(1118): Show c.10815+86_10815+87insGTGGCTCGCCCACCAGCAGTGTGTGAGT TGGCAAGTCTGCCTTAATAAAGCACACTCATTAGCTGTGGTTCTCTTGTC TCTCTGCCCATGAAAAGGTAGCAGGTAGTATGCCAGTCAGCAAACCACTA GCTTTGTTCTTGTGGGAAATTGTACTCAATTACTGTAATAACAGGGGCCA TAGAAGGACAAACTGAAACATCTAAAATGAAAAAGTCAGAAAAATGAAAA TCAGGCCAAGCGTGGTGGCTCACACCTGTAATCCCAGCTCTTTGGGAGGC CAGGGGAGGGAAGATCACTTGAGCTTAGAAGTTCGAGACCAGTCTGGGCA ACATAGGGAGACCTACCTCATCTATACAAAAAATAAAAAATTAGTTGGGT ATGGTGGTGTGCTCCTGTAGTCCCAGCTGCTCAGGAGGCAGAGGTAGGAG GATAGTTTGAGCCCAAGTATTTGAGGCTGCAGTGAGTTCTGATTGCACCC TGCACTCCAGGCTGGGCGACAGAGTAACATCCAGTGTCTCAAAAAAAAAA AAAAAAAAAAAGATTAAAAAATCAGAGGAATGGAGACACTTGAATGGTTT TTGTGCTATTATTCTATAAATGCAAGTTGATAGTGATTTTTATTTTGAGG CAGTACAGGACCCTGCAATTCTCAAGATTAAACTATATTAGGTTACTTGT ACTCTTTTGTAGACAAAGCACATGACAAAACACAGCAGAAGTAAATGACT ATAATTACAGTCTGGAAAGCTTTGACATTCTCATAACCCATGTCTGATAG AAAGTGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGTGGCCAAG GCGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATG GCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTTGGTGTGGTGGC ATACGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTT GAACTCAGGAGGCAGACGTTGCAGTGAGCCGAGATCGCGCCACTGCACTC GAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAATGTGTTAGCT GTGGTCTGAGCATTCCAGAGAAG	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	78/103			chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1073081	C C	CCCCCAGC others(1094): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCA CACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCA TCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTA TGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCC CAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCC CCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACAC GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCA CACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAT GCAGCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTA TGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACAC TTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCC CCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCC CCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCAC ACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATC ACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG CAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCA GTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCC CAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCC CCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACA CGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCA CACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC AG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0024 a0001c0009t0005g0024	1	118	0.0085	1101	c.224 others(1118): Show c.2241+551_2241+552insCTGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACT GGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGC ATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGA TGCCCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAGTG TGATGCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCG TGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGG GGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTG GGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCA TAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGA TGCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCGTGTGC TGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTC ACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGC TCACTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGG GCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGG GGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTCACT GGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGC ATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGA TGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGT GCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGG CTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGG GGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATA AGTGTGATGCCCGTGTGCTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar

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