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
PPP6R2_chr22_50338327_50450090	50397569	C C	CTGTCATC others(1059): Show CTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGC AGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCAT CTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGT TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCT GAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCC TCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTT TCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAG CCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCA TCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGG CCTGTCCTCACCAGCCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0073 a0001c0003t0002g0073	1	242	0.0041	1066	c.227 others(1083): Show c.227+3441_227+3442insCCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGA GTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCC TGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGG GGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCT CTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTG TCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTG GGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTT TCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCA GCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGG CGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGT CATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGG CCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCT CACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RGN_chrX_47073443_47098313	47089400	A A	ATATATAT others(1059): Show ATATATATTTATATTATATAATTATAATATTAATATAATATATTTATATT ATATAATTATAATATTAATATAATATATTTATATTATATAATTATAATTA TATAATATATTTATATTATATAAATATAATATAATTATATAATATATTTA TATTATATAAATATAATATAATTATATAATATAATTATATTATATAAATA TAATATAATTATATAATTATATAATATAATTATATTATATAAATATAATA ATATAATATAATTATATAAATATAATAATATAATATAATTATATAAATAT AATAATATAATATAATAATATAATATAATATAATTATATTTTTATATAAT ATAATTATATTATATAATTATATAATATAATATAATTATATTATGTAATT ATATAATATAATATAATTATATTATATTATATAATTACATAATATAATAT AATTATATTATATAATTATATAATATAATATAATATAATTATATTATATA ATTATATAATAAATATAATATAATTATATTATATAATTATATTATAAAAT ATAATATAATTATATTATATAATTATATTATAAATATAATATAATTATAT TATATAATTATATTATAAATATAATATAATTATATTATATAATTATATAA TAAATATAATATAATTATATTATATAATTATATAATAAATATAATATAAT TATATTATATAATTATATAATAAATATAATATAATTATATTATATAATTA TATAATAAATATAATATAATTATATTATATTAATTATATAATAAATATAA TATAATTATATTATATAATTATATAATAAATATAATATAATTATATTATA TAATTATATAATAAATATAATATAATTATATTATATAATTATATAATAAA TATAATATAATTATATTATATAATATGATATAATATAATATAATATAATA TAATATAATTATATTATATAATTATATAATATAATATAATATAATTATAT TATATGATTATATATAATTACATAATATAATATAATATAATTATATTATA TGATTATATATAATTAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	195	0.0051	1066	c.347 others(1081): Show c.347-376_347-375insTATATATTTATATTATATAATTATAATATT AATATAATATATTTATATTATATAATTATAATATTAATATAATATATTTA TATTATATAATTATAATTATATAATATATTTATATTATATAAATATAATA TAATTATATAATATATTTATATTATATAAATATAATATAATTATATAATA TAATTATATTATATAAATATAATATAATTATATAATTATATAATATAATT ATATTATATAAATATAATAATATAATATAATTATATAAATATAATAATAT AATATAATTATATAAATATAATAATATAATATAATAATATAATATAATAT AATTATATTTTTATATAATATAATTATATTATATAATTATATAATATAAT ATAATTATATTATGTAATTATATAATATAATATAATTATATTATATTATA TAATTACATAATATAATATAATTATATTATATAATTATATAATATAATAT AATATAATTATATTATATAATTATATAATAAATATAATATAATTATATTA TATAATTATATTATAAAATATAATATAATTATATTATATAATTATATTAT AAATATAATATAATTATATTATATAATTATATTATAAATATAATATAATT ATATTATATAATTATATAATAAATATAATATAATTATATTATATAATTAT ATAATAAATATAATATAATTATATTATATAATTATATAATAAATATAATA TAATTATATTATATAATTATATAATAAATATAATATAATTATATTATATT AATTATATAATAAATATAATATAATTATATTATATAATTATATAATAAAT ATAATATAATTATATTATATAATTATATAATAAATATAATATAATTATAT TATATAATTATATAATAAATATAATATAATTATATTATATAATATGATAT AATATAATATAATATAATATAATATAATTATATTATATAATTATATAATA TAATATAATATAATTATATTATATGATTATATATAATTACATAATATAAT ATAATATAATTATATTATATGATTATATATAATTAC	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	4/7			chrX	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(1059): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATAGTATATATTTTATGTTGTATATATAATATATATACTATAT ATTATATATTGTATATAATATACATAGCATATATTATATATTGTATATAA TATATATAGCATATATTATATATTGTATATAATATATAGCATATATTATA TATTGTATATAATATATATAGCATATATTATATATTGTATATAATATATA TAGCATATATTATATATTGTATATAATATATATAGCATATATTATATATT GTATATAATATATATAGCATATATTATATATTGTATATAATATATATTGT ATATATAATATATATATTGTATATAATATATATTGTATATATAATATATA TATTGTATATATTATATATTGTATATATAATATATATATTGTATATATTA TATATTGTATATATAATATATATTGTATATGTTATATATTGTATATATAA TATATAGTATATGTTATATATTGTATATATAATATATAGTATATGTTATA TATTGTATATATAATATATAGTATATGTTATATATTGTATATATAATATA TAGTATATGTTATATATTGTATATATAATATATAGTATATGTTATATATT GTATATATAATATATAGTATATGTTATATATTGTATATATAATATATAGT ATATGTTATATATTGTATATATAATATATAGTATATGTTATATATTGTAT ATATAATATATAGTATATGTTATATATTGTATATATAATATATAGTATAT GTTATATATTGTATATATAATATATAGTATATGTTATATATTGTATATAT AATATATATTGTATATATAATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATAATATA TATATTGTATATATTATATATTGTATATATAATATATATATTGTATATAT TATATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0146	1	46	0.0217	1066	c.176 others(1083): Show c.176-5096_176-5095insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATATAT TATATATACAATATATAATATATACAATATATATATTATATATACAATAT ATAATATATACAATATATATTATATATACAATATATATTATATATACAAT ATATAACATATACTATATATTATATATACAATATATAACATATACTATAT ATTATATATACAATATATAACATATACTATATATTATATATACAATATAT AACATATACTATATATTATATATACAATATATAACATATACTATATATTA TATATACAATATATAACATATACTATATATTATATATACAATATATAACA TATACTATATATTATATATACAATATATAACATATACTATATATTATATA TACAATATATAACATATACTATATATTATATATACAATATATAACATATA CTATATATTATATATACAATATATAACATATACTATATATTATATATACA ATATATAACATATACAATATATATTATATATACAATATATAATATATACA ATATATATATTATATATACAATATATAATATATACAATATATATATTATA TATACAATATATATTATATACAATATATATATTATATATACAATATATAT TATATACAATATATAATATATGCTATATATATTATATACAATATATAATA TATGCTATATATATTATATACAATATATAATATATGCTATATATATTATA TACAATATATAATATATGCTATATATATTATATACAATATATAATATATG CTATATATTATATACAATATATAATATATGCTATATATATTATATACAAT ATATAATATATGCTATGTATATTATATACAATATATAATATATAGTATAT ATATTATATATACAACATAAAATATATACTATATATTATATATACAATAT AAAATATATATAATATATATTAGATATACAATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(1059): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATAGTATATATTTTATGTTGTATATATAATATATATACTATAT ATTATATATTGTATATAATATACATAGTATATATTATATATTGTATATAA TATATATAGCATATATTATATATTGTATATAATATATAGCATATATTATA TATTGTATATAATATATATAGCATATATTATATATTGTATATAATATATA TAGCATATATTATATATTGTATATAATATATATAGCATATATTATATATT GTATATAATATATATAGCATATATTATATATTGTATATAATATATATTGT ATATATAATATATATATTGTATATAATATATATTGTATATATAATATATA TATTGTATATATTATATATTGTATATATAATATATATATTGTATATATTA TATATTGTATATATAATATATATTGTATATGTTATATATTGTATATATAA TATATAGTATATGTTATATATTGTATATATAATATATAGTATATGTTATA TATTGTATATATAATATATAGTATATGTTATATATTGTATATATAATATA TAGTATATGTTATATATTGTATATATAATATATAGTATATGTTATATATT GTATATATAATATATAGTATATGTTATATATTGTATATATAATATATAGT ATATGTTATATATTGTATATATAATATATAGTATATGTTATATATTGTAT ATATAATATATAGTATATGTTATATATTGTATATATAATATATAGTATAT GTTATATATTGTATATATAATATATAGTATATGTTATATATTGTATATAT AATATATATTGTATATATAATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATAATATA TATATTGTATATATTATATATTGTATATATAATATATATATTGTATATAT TATATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp2 HG03540.hp1 HG02717.hp1 HG02886.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0004 a0001c0001t0001 a0001c0001t0006 a0001c0002t0004	a0001c0001t0001g0147 a0001c0001t0006g0082 a0001c0002t0004g0017 a0001c0001t0001g0147 a0001c0001t0006g0082 a0001c0002t0004g0017	3	48	0.0625	1066	c.176 others(1083): Show c.176-5096_176-5095insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATATAT TATATATACAATATATAATATATACAATATATATATTATATATACAATAT ATAATATATACAATATATATTATATATACAATATATATTATATATACAAT ATATAACATATACTATATATTATATATACAATATATAACATATACTATAT ATTATATATACAATATATAACATATACTATATATTATATATACAATATAT AACATATACTATATATTATATATACAATATATAACATATACTATATATTA TATATACAATATATAACATATACTATATATTATATATACAATATATAACA TATACTATATATTATATATACAATATATAACATATACTATATATTATATA TACAATATATAACATATACTATATATTATATATACAATATATAACATATA CTATATATTATATATACAATATATAACATATACTATATATTATATATACA ATATATAACATATACAATATATATTATATATACAATATATAATATATACA ATATATATATTATATATACAATATATAATATATACAATATATATATTATA TATACAATATATATTATATACAATATATATATTATATATACAATATATAT TATATACAATATATAATATATGCTATATATATTATATACAATATATAATA TATGCTATATATATTATATACAATATATAATATATGCTATATATATTATA TACAATATATAATATATGCTATATATATTATATACAATATATAATATATG CTATATATTATATACAATATATAATATATGCTATATATATTATATACAAT ATATAATATATACTATGTATATTATATACAATATATAATATATAGTATAT ATATTATATATACAACATAAAATATATACTATATATTATATATACAATAT AAAATATATATAATATATATTAGATATACAATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC6A3_chr5_1387794_1450440	1414460	G G	GGGGAAGG others(1059): Show GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCAGAGAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGC ACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGG GGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGG CAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAA GGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGG GGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGG GGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGG AAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGT GGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCGGGA GGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAG AGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC AGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGG GCAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGG CCTGGAGGGGCAGGGCA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0201 a0001c0002t0004g0201	1	330	0.0030	1066	c.115 others(1083): Show c.1156+230_1156+231insTGCCCTGCCCCTCCAGGCCCCCCACCCA GTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCG CCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCC AGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACC CAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC CGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCT CCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC CCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCC CTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCC CACCCAGCGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCT TCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGC CCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCC CCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGC CTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCT GCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGC CCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAG TGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGC CCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCC CGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC TTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
TMPRSS2_chr21_41459305_41513158	41475639	A A	AGTGAGGG others(1059): Show AGTGAGGGGGTGAGTGAGGGGGCGAAGGGGTGAGTGAGGGGGGTGAGGGG GTGAAGGCGTGAGTGAGGGGGTAAGGGGATGAGTGAGGGGGTGAGGGGGT GAGGGGTGAGTGAGGGGGCGAGGGGGTGAGTGAGGGGGCGAGGGGGTGAG TGAGGGGGCGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTG AGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAC TGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGTGAGTGAGGGGGTGA GGGGGTGAGTGAGGAGGTGAGCGGGTGAGTGAGGGGGTGAGGGGGTGAGT GAGGAGGTGAGCGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGA GGGGGTGAGTGAGGAGGTGAGGGGGTGACTGAGGAGGTGAGGGGGTGAGT GAGGGGGTGAGGGGGTGAGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGG GTGAGGGGTGGGTGAGGTGGTGGGTGAGGGGGTGAGGGGTGAGTGAGGGG GGTGAGGGGTGAGTAAGGAGGTGAGGGGGTGAGTGAGGGGGTGGGTGAGG GGTGGGTGAGGTGGTGGGTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGAG TGAGGGGATGAGGGAGTGATTCAGAGGGTGAAGGGGTGAGTGAGGGAGTG AAGGCATGATTGGGGGGTGAAGGGGTGAGTGAGGGGGTGACTGAGGGGTG AAGGGGTGAGTGAGGAGGTGAGTGAGGGGGTGAAGGCATGAGTGAGGGGG TGAATGGGTGAGAGAGGGGGTGAGTGAGGGGTGAAGGGATGAGTGAGGGG GTAAGTAAGGGGTTGAGGGGGTGAGGGGGTGAGTGAGGAGGTGAAGGTGT GAGTGAGGGCGTGAGGGGGTGAGGGAGTGAGGGATTAGTGAGGGGGTGAG GGGTTGAGTGAGGAGGTGAGCAGGTGGGTGAGTGGATGAAGGGGTGAGTG AGGGGGTGCAGGGGTGAGTGAGGGGGTGAGGGGTGAATGAGGGGTTGAGT AGGGGGTGAGTGAGGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0270 a0001c0002t0008g0270	1	280	0.0036	1066	c.727 others(1081): Show c.727+937_727+938insCTCCTCACTCACCCCCTACTCAACCCCTCA TTCACCCCTCACCCCCTCACTCACCCCTGCACCCCCTCACTCACCCCTTC ATCCACTCACCCACCTGCTCACCTCCTCACTCAACCCCTCACCCCCTCAC TAATCCCTCACTCCCTCACCCCCTCACGCCCTCACTCACACCTTCACCTC CTCACTCACCCCCTCACCCCCTCAACCCCTTACTTACCCCCTCACTCATC CCTTCACCCCTCACTCACCCCCTCTCTCACCCATTCACCCCCTCACTCAT GCCTTCACCCCCTCACTCACCTCCTCACTCACCCCTTCACCCCTCAGTCA CCCCCTCACTCACCCCTTCACCCCCCAATCATGCCTTCACTCCCTCACTC ACCCCTTCACCCTCTGAATCACTCCCTCATCCCCTCACTCACCCCCTCAC TCACCCCTTCACCCCCTCACCCACCACCTCACCCACCCCTCACCCACCCC CTCACTCACCCCCTCACCTCCTTACTCACCCCTCACCCCCCTCACTCACC CCTCACCCCCTCACCCACCACCTCACCCACCCCTCACCCACCCCCTCACT CACTCCCTCACCCCCTCACTCACCCCCTCACCCCCTCACTCACCCCCTCA CCTCCTCAGTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACT CACCCCCTCACCTCCTCACTCACCCGCTCACCTCCTCACTCACCCCCTCA CCCCCTCACTCACCCGCTCACCTCCTCACTCACCCCCTCACCCCCTCACT CACCCCTCACCCCCTCACTCACCCCCTCACCTCCTCAGTCACCCCCTCAC CTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTC ACCCCCTCACCTCCTCACTCACCCCCTCGCCCCCTCACTCACCCCCTCGC CCCCTCACTCACCCCCTCGCCCCCTCACTCACCCCTCACCCCCTCACCCC CTCACTCATCCCCTTACCCCCTCACTCACGCCTTCACCCCCTCACCCCCC TCACTCACCCCTTCGCCCCCTCACTCACCCCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TSNARE1_chr8_142207080_142408182	142242243	T T	TGCCGTAT others(1059): Show TGCCGTATACAACAATCAACTCAAAATGGATGGAAGACCGACATGTGAGA CCTAAAACTCTAAAACTACGATCTCCATCTCACGCCGTATACAACAATCA ACTCAAAATGGATGGAAGACTGACATGTGAGACCTAAAACTCTAAAACTA AGATCTCCATCTCATGCCATATACAACAATCAACTCAAAATGGATGGAAG ACTGACATGTGAGACCTAAAACTCTAAAACTATGATCTCCATCTCACGCC ATATACAACAATCAACTCAAAATGGATGGAAGACCGACATGTGAGATCTA AAACTCTAAAACTACAATCTCCATCTCACGCCGTATACAACAATCAACTC AAAATGGATGGAAGACCGACATGTGAGACCTAAAACTCTAAAACTACGAT CTCCATCTCACGCCATATACAACAATCAACTCAAAATGGCTGGAAGACCA ACATGTGAGATCTAAAACTCTAAAACTACAATCTCCATCTCATGCCGTAT ACAACAATCAACTCAAAATGGATGGAAGACCGACATGTGAGACCTAAAAC TCTAAAACTACAATCTCCATCTCATGCCGTATACAACAATCAACTCAAAA TGGATGGAAGACCGACATGTGAGACCTAAAACTCTAAACCTACGATCTCC ATCTCATGCCATATACAACAATCAACTCAAAATGGCTGGAAGACCGACAT GTGAGACCTAAAACTCTAAAACTACAATCTCCATCTCATGCCGTATACAA CAATCAACTCAAAATGGATGGAAGACCGACATGTGAGACCTAAAACTCTA AAACTACGATCTCCATCTCACGCCGTATACAACAATCAACTCAAAATGGA TGGAAGACTGACATGTGAGACCTAAAACTCTAAAACTACGATCTCCATCT CATGCCGTATACAACAATCAACTCAAAATGGATGGAAGACCGACATGTGA GACCTAAAACTCTAAAACTACAATCTCCATCTCATGCCGTATACAACAAT CAACTCAAAATGGATGGAAGACTGACATGTGAGACCTAAAACTCTAAAAC TATGATCTCCATCTCAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0150 a0005c0005t0001g0150	1	82	0.0122	1066	c.144 others(1087): Show c.1447-12665_1447-12664insGTGAGATGGAGATCATAGTTTTAG AGTTTTAGGTCTCACATGTCAGTCTTCCATCCATTTTGAGTTGATTGTTG TATACGGCATGAGATGGAGATTGTAGTTTTAGAGTTTTAGGTCTCACATG TCGGTCTTCCATCCATTTTGAGTTGATTGTTGTATACGGCATGAGATGGA GATCGTAGTTTTAGAGTTTTAGGTCTCACATGTCAGTCTTCCATCCATTT TGAGTTGATTGTTGTATACGGCGTGAGATGGAGATCGTAGTTTTAGAGTT TTAGGTCTCACATGTCGGTCTTCCATCCATTTTGAGTTGATTGTTGTATA CGGCATGAGATGGAGATTGTAGTTTTAGAGTTTTAGGTCTCACATGTCGG TCTTCCAGCCATTTTGAGTTGATTGTTGTATATGGCATGAGATGGAGATC GTAGGTTTAGAGTTTTAGGTCTCACATGTCGGTCTTCCATCCATTTTGAG TTGATTGTTGTATACGGCATGAGATGGAGATTGTAGTTTTAGAGTTTTAG GTCTCACATGTCGGTCTTCCATCCATTTTGAGTTGATTGTTGTATACGGC ATGAGATGGAGATTGTAGTTTTAGAGTTTTAGATCTCACATGTTGGTCTT CCAGCCATTTTGAGTTGATTGTTGTATATGGCGTGAGATGGAGATCGTAG TTTTAGAGTTTTAGGTCTCACATGTCGGTCTTCCATCCATTTTGAGTTGA TTGTTGTATACGGCGTGAGATGGAGATTGTAGTTTTAGAGTTTTAGATCT CACATGTCGGTCTTCCATCCATTTTGAGTTGATTGTTGTATATGGCGTGA GATGGAGATCATAGTTTTAGAGTTTTAGGTCTCACATGTCAGTCTTCCAT CCATTTTGAGTTGATTGTTGTATATGGCATGAGATGGAGATCTTAGTTTT AGAGTTTTAGGTCTCACATGTCAGTCTTCCATCCATTTTGAGTTGATTGT TGTATACGGCGTGAGATGGAGATCGTAGTTTTAGAGTTTTAGGTCTCACA TGTCGGTCTTCCATCCATTTTGAGTTGATTGTTGTATACGGC	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TWIST2_chr2_238843085_238915534	238871163	C C	CCACACAC others(1059): Show CCACACACCCTACACACCCCACACACACCACACACACACATCACATACCA CACACACACCACACACCCACACACACCACACACCCCACACACACCACACC CCATACACACCACACCCCACACACACCACACACCCCACACACACCACACA AACCACACACCCTACACACCCCACACACACCACACAAACCACACACCCTA CACACCCCACACACACCCCACACACACATCACATACCACACACAAACCAC ACACCCAACACACACATCACACACCACACACCCCACACACACATCACATA CCACACACAAACCACACACCCTACACACACCACACACCCCACACACACAT CACACACCACACACACCACACACACCCCACACACACCACACACACATCAC ACACCACACACACCCCACACACACCACACACACACATCACACACCACACA CACCACACACACCCCACACACACCACACACACACATCACATACCACACAC CCGACACACGCCACACACACACCACACACCCACGCACACATCACATACCA CACACAAACCACACACCCTACACACACCACACACCCCACACACACCACAC ACACACCACACACACATCACATACCACACACAAACCACACACCCAACACA CACATCACACACCACACACCCCACACACACATCACATACCACACACAAAC ACACACCCCACACACACATCACATACCACACACAAACCACACACCCACAC ACAAGCCACACACCCCACACACACATCACATACCACACACCCCCACACAC CCCACACACCCCCACACACCCCACACACCCCACACACACCACACACCCCA CAAACACACCACACACCCCACACACCCCACACACCCACACACACATCACA TACCACACACAAACCACACACCCTACACACACCACACACCCCACACACAC CACACCCGACACACGCCACACACACACCACACACCCCACGCACACATCAC ATACCACACACAAACCACACACCCTACATACCCCACACACCCCACACACA CCACACACCACACACCA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	315	0.0032	1066	c.35 others(1085): Show c.35+22437_*35+22438insCCTACACACCCCACACACACCACACA CACACATCACATACCACACACACACCACACACCCACACACACCACACACC CCACACACACCACACCCCATACACACCACACCCCACACACACCACACACC CCACACACACCACACAAACCACACACCCTACACACCCCACACACACCACA CAAACCACACACCCTACACACCCCACACACACCCCACACACACATCACAT ACCACACACAAACCACACACCCAACACACACATCACACACCACACACCCC ACACACACATCACATACCACACACAAACCACACACCCTACACACACCACA CACCCCACACACACATCACACACCACACACACCACACACACCCCACACAC ACCACACACACATCACACACCACACACACCCCACACACACCACACACACA CATCACACACCACACACACCACACACACCCCACACACACCACACACACAC ATCACATACCACACACCCGACACACGCCACACACACACCACACACCCACG CACACATCACATACCACACACAAACCACACACCCTACACACACCACACAC CCCACACACACCACACACACACCACACACACATCACATACCACACACAAA CCACACACCCAACACACACATCACACACCACACACCCCACACACACATCA CATACCACACACAAACACACACCCCACACACACATCACATACCACACACA AACCACACACCCACACACAAGCCACACACCCCACACACACATCACATACC ACACACCCCCACACACCCCACACACCCCCACACACCCCACACACCCCACA CACACCACACACCCCACAAACACACCACACACCCCACACACCCCACACAC CCACACACACATCACATACCACACACAAACCACACACCCTACACACACCA CACACCCCACACACACCACACCCGACACACGCCACACACACACCACACAC CCCACGCACACATCACATACCACACACAAACCACACACCCTACATACCCC ACACACCCCACACACACCACACACCACACACCACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ULK1_chr12_131889622_131928150	131917125	C C	CGGGTGGG others(1059): Show CGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGC TGTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTTGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGT GGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGG GACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGG CTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGG CTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGACGGGGGTCGGGTTCGGCTTGGAGGCTGTGGGATGGGGGTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTTGGAGGCTGTG GGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGT GGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACG GGGGTCGGGTTCGGCTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0089 a0001c0002t0003g0089	1	291	0.0034	1066	c.218 others(1081): Show c.2182+65_2182+66insGTGGGGCTTGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTGGAGGCT GTGGGACGGGGGTCGGGTTCGGCTTGGAGGCTGTGGGATGGGGGTCGGAG GCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTG GGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTTGGAGGCTGTG GGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGT TCGGCTTGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTTGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VCX2_chrX_8164944_8176267	8169723	C C	CCTCCCTC others(1059): Show CCTCCCTCCTCCCCACACACCTCTTCCTCCCTCCCTCCACACACCACCTC TTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCT CCCTCCCCACACACCACCTCTTCCCCTCCCTCCCTCCCTCCCCACACACC ACCTCTTCCCCCCTCCCTCCCTCCTCCCCACACACCACCTCTTCCTCCCT CCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCA CCTCTTCCTCCCTCCCTCCCTCCCCCCACACACCACCTCTTCCCCCTCCC TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTC TTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCC ACACACCACCTCTTCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTC CCTCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTC CTCCCTCCCTCCCCACACACACCTCTCTCTTCCTCCCTCCCTCCCCACAC ACCACCTCTTCCTCCCTCCTCCCTCCCCACACACCACCTCTTCCTCCCTC CCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACAC CTCTTCCTCCCTCCCCACACACCACCTCTTCCTCCTCCCTCCCTCCCCAC ACACCACCTCTTCCTCCCTCCCTCCCTCCTCCCCACACACCACCTCTTCC CCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCTCCCTCCCCA CACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTC CCTCCCCACACACCTCTTCCTCCCTCCCCTCCCCACACACCTCTTCCTCC CTCCCTCCCTCCCCACACACCACCTCTTCCTTCCTCCCTCCCTCCCCACA CACCACCTCTTCTCTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCC CCCCTCCCTCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTC CCCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0025 a0002c0001t0001g0025	1	96	0.0104	1066	c.30 others(1075): Show c.308_*309insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGAGGGAGGGGGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAGAGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGG GAGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AAGAGAGAGGTGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGGAAGAGGTGGT GTGTGGGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGAGGGA GGGAGGAAGAGGTGTGTGGGGAGGAGGGAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		220		chrX	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(1059): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAACAACAACAACAAAGAAAAAAAAAAACAAATGAACA AAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTGT TTCACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCGGGG TTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATAAGGTGTTTCA CTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCATG AGCCACCGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTCTTTCT CTTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCACGGTGGCT CACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	119	0.0084	1066	c.51 others(1077): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCGGTGGCTCATGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCTTATTGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCAACCCCGCTAAAACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGG CGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAGAGTGAAACACCATCTCAAAAACA ACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTTTTTT TTTTCTTTGTTGTTGTTGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(1060): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGGG GAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAGA GGAAGAGGATGAAGGGGAAGGGGGAAAACAGAGGGAGAGGATGAAGGGGA AGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGAG GGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGAA GGGGGATGGGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTG GGGAAGGGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGA GGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGAAGGGGG ATGAGGAAGGGGGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGG GGAAGGGGGATAGGGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGAT GGGGAAGGGGGATAGGGAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGG ATGGGGAAGGGGGATGGGGAAGGGGGATGGGAAGGGGGATGGGGAAGGGG GGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGGGAAGGTCGATGGGGAA GGGGGATGGGGAAGGGGGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGG GGAAGGTCGATGGGGAAGGGGGATGGGAAGGGGAGGGGAAGGGTGGAAGG GGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGGCAGGGGG ATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGGAGATGGGGAAGG GGGGATGGGGAAGGGAGATGGGGAAGGGGAGGGGGAGGGGGAAGGGGAGG GGGAGGGGGAAGGGGGATGGGGAGGGGGAGGGGGAAGGGGGATGGGGAGG GGGAGGAGGAAGGGGGAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	3	0.3333	1067	c.787 others(1082): Show c.787-617_787-616insATCCCCCTTCCTCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCATCCCCCTTCCCCCTCCCCCTCCCCTTCCC CCTCCCCCTCCCCTTCCCCATCTCCCTTCCCCATCCCCCCTTCCCCATCT CCTCTTCCCCATCCCCCTTCCCCATCCCCCTTCCCCATCCCCCTGCCCCC CTTCCCCATCCCCCTTCCCCATCCCCCTTCCCCATCCCCCTTCCACCCTT CCCCTCCCCTTCCCATCCCCCTTCCCCATCGACCTTCCCCCTTCCCCATC CCCCTTCCCCCCTTCCCCATCCCCCTTCCCCATCCCCCTTCCCCATCGAC CTTCCCTCTTCCCCATCCCCCTTCCCCATCCCCCTTCCCCCCTTCCCCAT CCCCCTTCCCATCCCCCTTCCCCATCCCCCTTCCCCATCCCCCTTCCCTA TCCCCCTTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCC TATCCCCCTTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTC CCTATCCCCCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCTTCCCCC TTCCCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCT CCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCACCCCATCCCC CTTCCCTATCCCCCTCCCCTCCCCCCTCCCCATCCCCCTTCGCCTCCCCC TCCCCTCCACCTCCCCATCCCCTCCACCTCCCCATCCCCTCCACGTCCCC CTCCCCTCCAACCTCCCCCTCCCCTCCAACCTCCCCCTTCCCCTTCATCC TCTCCCTCTGTTTTCCCCCTTCCCCTTCATCCTCTTCCTCTGTTTTCCCC CTTCTCTTTCCCCTCCCCTTCCCCTCCCCTTTCTCCTCCCCTTCCATTCC CGTTTCTCCTCCCTTTCCCCTCCCCTTTCCCCTCCCCTTCCCCTCCCCTT TTGCCTCCCATTTCCCCTCCCGTTTCCCCTCCCCTTTTTTCTCTCCCCTT TTTCCTCTCCTTTTTCCCTCTCCCTCCTCCCCTCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ASAP2_chr2_9201812_9410678	9400249	T T	TTCCCCTC others(1060): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTC CCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCC CCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCC TGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCC CCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCC TCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCT TCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTC CTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCT GCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCC TCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCT TCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCC CTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCT CCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCT GCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCC CCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTC CTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTC CCCTTCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCC TCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCC CTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCC CTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCT CCTCCCCTCCTGCCCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0002 a0002c0005t0001g0002	1	72	0.0139	1067	c.273 others(1084): Show c.2734+190_2734+191insCCTTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCC TCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCT TCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTG CCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCC CCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCC TGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCC CTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCC CTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCC CCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCC TGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGC CCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCT CCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCT CCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCC CTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCCC CTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTG CCCCCCTCCCCTTCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCC CCCTCCCCTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCC CTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGC CCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCC CCTCCCCTCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG10_chr5_81967023_82261133	82140209	C C	CCGCCCGG others(1060): Show CCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCACCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGTGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCAGTCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCC CATCCGGGAGGGAGGTGGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCC CGTCGGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGG GTCAGCCCTCCACCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCTGCCCGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0093 a0002c0002t0002g0093	1	152	0.0066	1067	c.217 others(1086): Show c.217-24190_217-24189insCGCCCGGCCAGCCGCCCTGTCCGGGA GGTGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGTCCC CCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCACCCGGCCAGCCGCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTTCTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7			chr5	TogoVar
CACNA1C_chr12_2047987_2702950	2539501	C C	CTTCATAA others(1060): Show CTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAGGGAGGGCTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAGGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAG GAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAGGGAGGGCTTC ATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATG CAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGG TTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGAC TTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGG GCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTGAGGGCTTCATAAAGA TGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAG GGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGG ACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGA GGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCAT AAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCA GGCAGGGTTTAAGGACTTAAGGAGGTTTTCATAAAGACGCAGGCAGGGTT TAAGGACTTAAGGAGGGCTTCATAAAGACGCAGGCAGGGTTTAAGGACTT AAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGC TTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAG ATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGAAAGATGCA GGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAAGGAGGGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0035 a0001c0001t0015g0035	1	82	0.0122	1067	c.139 others(1088): Show c.1391-10368_1391-10367insGGGAGGGCTTCATAAAGATGCAGG CAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTA AGGACTTAGGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAA GGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAGGGAGGGCTT CATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGAT GCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGG GTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGA CTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAG GGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTGAGGGCTTCATAAAG ATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCA GGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAG GACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGG AGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCA TAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGC AGGCAGGGTTTAAGGACTTAAGGAGGTTTTCATAAAGACGCAGGCAGGGT TTAAGGACTTAAGGAGGGCTTCATAAAGACGCAGGCAGGGTTTAAGGACT TAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGG CTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGAAAGATGC AGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGT TTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACT TAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185940	G G	GGGGCGGG others(1060): Show GGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGG CGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGG CGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGC CGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGC CGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGC CGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGC CGGAGGCGGGGTGTGTAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0009 a0009	a0009c0076 a0009c0076	a0009c0076t0006 a0009c0076t0006	a0009c0076t0006g0064 a0009c0076t0006g0064	1	336	0.0030	1067	c.300 others(1084): Show c.300-8843_300-8842insACGTGGGGGGCGGGTGAGTAGACGGCAT GTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACG GTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTA GACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGT GGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGT GTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGG CGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTAT GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC AGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CFAP74_chr1_1916957_2008786	1929384	G G	GGAGGGGA others(1060): Show GGAGGGGACAGGTCTGGGGAGGCAGGAGAGAGGGTGAGGGGAGGCAGGGG AGATGGTGAGGGGAGGGAGGGGAGAGGGTGGGGGAGGGAGGGTAGGGGAG GGAGGGGAGAGGGTAGGGGAGGGAGGGAGAGGAGGGGAGAGGGTAGGGAG GGAGAGGAGGGGAGAAGGGAGGGGACGCAGGGAGGGGAGAGGAAAGAGGA GGGAGGGGAGAGGGGAGGGAGGGGAGCGGGTAGGGGAGGGAAGGAGGGGA AATGGTATGGGAGGGAGGGAGGGGAGAGGGTAGGGGAGAGAGGGAGCAGA GGGGAAAGGGTAGGGGAGGGAAGGAAGGGAGAGGGTAGGGGAGGTAGGGA GGGAGGGGAGAGGGTAGGGGAGGGGAGAGGGTAGGGGAGGGGGAGAGGGT AGGGGAGGGAAGGAGGGGAGACGGTAGGGGAGGGAGGAAGAGGAGGGGAG AGGGTAGGGAGGGAGGGAGAGGAGAGGGGAGGGAGGGGAGGAGGGGAGAG GGTAGGGAGGGAGGGGAGGAGGGAAGAGGGTAGGGAGGGAGGGAGAGGAG AGGGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTGGGGAGGAGGGGAGAGG TTAGGGAGGGAGGGAGAGGAGGGGAGAGGGTAGGGGAGGGAAGGAGGGGA GAGGGTAGAGGAGGGAGGAGGGGAGAGGGGAGGGGAGGGAGGAAGAGGAG GGGAGAGGGTAGGGAGGGAGGGAGAGGAGAGGGGAGGGAGGGGAGGAGGG GAGAGGGTAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAG AGGAGAGGGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGG AGAGGAGAGGGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAG GGAGAGAGGAGGGAGGGAGGGCAGGAGGGGAGAGGGTAGGGAGGGAGGGC AGGAGGGGAGAGGGTAGGGAGGGAGGGCAGGAGGGGAGAGGGTAGGGAGG GAGGGGAGGAAGGGAGAGGGTAGGGAGGGGAGGAGGGGAGAGGGTAGGGA GGGAGGGAGAGGAGGGGA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0070 a0001c0070	a0001c0070t0001 a0001c0070t0001	a0001c0070t0001g0093 a0001c0070t0001g0093	1	8	0.1250	1067	c.328 others(1084): Show c.3289-503_3289-502insTCCCCTCCTCTCCCTCCCTCCCTACCCT CTCCCCTCCTCCCCTCCCTACCCTCTCCCTTCCTCCCCTCCCTCCCTACC CTCTCCCCTCCTGCCCTCCCTCCCTACCCTCTCCCCTCCTGCCCTCCCTC CCTACCCTCTCCCCTCCTGCCCTCCCTCCCTCCTCTCTCCCTCCCTCCCT ACCCTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCCTCCCTCC CTACCCTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCCTCCCT CCCTACCCTCTCCCCTCCTCCCCTCCCTCCCTACCCTCTCCCCTCCTCCC CTCCCTCCCCTCTCCTCTCCCTCCCTCCCTACCCTCTCCCCTCCTCTTCC TCCCTCCCCTCCCCTCTCCCCTCCTCCCTCCTCTACCCTCTCCCCTCCTT CCCTCCCCTACCCTCTCCCCTCCTCTCCCTCCCTCCCTAACCTCTCCCCT CCTCCCCACCCTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCC TCCCTCCCTACCCTCTTCCCTCCTCCCCTCCCTCCCTACCCTCTCCCCTC CTCCCCTCCCTCCCCTCTCCTCTCCCTCCCTCCCTACCCTCTCCCCTCCT CTTCCTCCCTCCCCTACCGTCTCCCCTCCTTCCCTCCCCTACCCTCTCCC CCTCCCCTACCCTCTCCCCTCCCCTACCCTCTCCCCTCCCTCCCTACCTC CCCTACCCTCTCCCTTCCTTCCCTCCCCTACCCTTTCCCCTCTGCTCCCT CTCTCCCCTACCCTCTCCCCTCCCTCCCTCCCATACCATTTCCCCTCCTT CCCTCCCCTACCCGCTCCCCTCCCTCCCCTCTCCCCTCCCTCCTCTTTCC TCTCCCCTCCCTGCGTCCCCTCCCTTCTCCCCTCCTCTCCCTCCCTACCC TCTCCCCTCCTCTCCCTCCCTCCCCTACCCTCTCCCCTCCCTCCCCTACC CTCCCTCCCCCACCCTCTCCCCTCCCTCCCCTCACCATCTCCCCTGCCTC CCCTCACCCTCTCTCCTGCCTCCCCAGACCTGTCCCCTC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	26/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1929384	G G	GGAGGGGA others(1060): Show GGAGGGGACAGGTCTGGGGAGGCAGGAGAGAGGGTGAGGGGAGGCAGGGG AGATGGTGAGGGGAGGGAGGGGAGAGGGTGGGGGAGGGAGGGTAGGGGAG GGAGGGGAGAGGGTAGGGGAGGGAGGGAGAGGAGGGGAGAGGGTAGGGAG GGAGAGGAGGGGAGAAGGGAGGGGACGCAGGGAGGGGAGAGGAAAGAGGA GGGAGGGGAGAGGGGAGGGAGGGGAGCGGGTAGGGGAGGGAAGGAGGGGG AAATGGTATGGGAGGGAGGGAGGGGAGAGGGTAGGGGAGAGAGGGAGCAG AGGGGAAAGGGTAGGGGAGGGAAGGAAGGGAGAGGGTAGGGGAGGTAGGG AGGGAGGGGAGAGGGTAGGGGAGGGGAGAGGGTAGGGGAGGGGAGAGGGT AGGGGAGGGAAGGAGGGGAGACGGTAGGGGAGGGAGGAAGAGGAGGGGAG AGGGTAGGGAGGGAGGGAGAGGAGAGGGGAGGGAGGGGAGGAGGGGAGAG GGTAGGGAGGGAGGGGAGGAGGGAAGAGGGTAGGGAGGGAGGGAGAGGAG AGGGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTGGGGAGGAGGGGAGAGG TTAGGGAGGGAGGGAGAGGAGGGGAGAGGGTAGGGGAGGGAAGGAGGGGA GAGGGTAGAGGAGGGAGGAGGGGAGAGGGGAGGGGAGGGAGGAAGAGGAG GGGAGAGGGTAGGGAGGGAGGGAGAGGAGAGGGGAGGGAGGGGAGGAGGG GAGAGGGTAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAG AGGAGAGGGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGG AGAGGAGAGGGGAGGGAGGGAGGGTAGGAGGGGAGAGGGTAGGGAGGGAG GGAGAGAGGAGGGAGGGAGGGCAGGAGGGGAGAGGGTAGGGAGGGAGGGC AGGAGGGGAGAGGGTAGGGAGGGAGGGCAGGAGGGGAGAGGGTAGGGAGG GAGGGGAGGAAGGGAGAGGGTAGGGAGGGGAGGAGGGGAGAGGGTAGGGA GGGAGGGAGAGGAGGGGA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0009 a0009	a0009c0049 a0009c0049	a0009c0049t0001 a0009c0049t0001	a0009c0049t0001g0228 a0009c0049t0001g0228	1	8	0.1250	1067	c.328 others(1084): Show c.3289-503_3289-502insTCCCCTCCTCTCCCTCCCTCCCTACCCT CTCCCCTCCTCCCCTCCCTACCCTCTCCCTTCCTCCCCTCCCTCCCTACC CTCTCCCCTCCTGCCCTCCCTCCCTACCCTCTCCCCTCCTGCCCTCCCTC CCTACCCTCTCCCCTCCTGCCCTCCCTCCCTCCTCTCTCCCTCCCTCCCT ACCCTCTCCCCTCCTACCCTCCCTCCCTCCCCTCTCCTCTCCCTCCCTCC CTACCCTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCCTCCCT CCCTACCCTCTCCCCTCCTCCCCTCCCTCCCTACCCTCTCCCCTCCTCCC CTCCCTCCCCTCTCCTCTCCCTCCCTCCCTACCCTCTCCCCTCCTCTTCC TCCCTCCCCTCCCCTCTCCCCTCCTCCCTCCTCTACCCTCTCCCCTCCTT CCCTCCCCTACCCTCTCCCCTCCTCTCCCTCCCTCCCTAACCTCTCCCCT CCTCCCCACCCTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCC TCCCTCCCTACCCTCTTCCCTCCTCCCCTCCCTCCCTACCCTCTCCCCTC CTCCCCTCCCTCCCCTCTCCTCTCCCTCCCTCCCTACCCTCTCCCCTCCT CTTCCTCCCTCCCCTACCGTCTCCCCTCCTTCCCTCCCCTACCCTCTCCC CTCCCCTACCCTCTCCCCTCCCCTACCCTCTCCCCTCCCTCCCTACCTCC CCTACCCTCTCCCTTCCTTCCCTCCCCTACCCTTTCCCCTCTGCTCCCTC TCTCCCCTACCCTCTCCCCTCCCTCCCTCCCATACCATTTCCCCCTCCTT CCCTCCCCTACCCGCTCCCCTCCCTCCCCTCTCCCCTCCCTCCTCTTTCC TCTCCCCTCCCTGCGTCCCCTCCCTTCTCCCCTCCTCTCCCTCCCTACCC TCTCCCCTCCTCTCCCTCCCTCCCCTACCCTCTCCCCTCCCTCCCCTACC CTCCCTCCCCCACCCTCTCCCCTCCCTCCCCTCACCATCTCCCCTGCCTC CCCTCACCCTCTCTCCTGCCTCCCCAGACCTGTCCCCTC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	26/38			chr1	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(1060): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGG GAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0297 a0002c0002t0002g0297	1	180	0.0056	1067	c.85- others(1084): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCT CCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCC TGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CRTC3_chr15_90524923_90650345	90647402	C C	CCCTCCTC others(1060): Show CCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCAC ACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCC TCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAAT CCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCA ATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCT CCAACCCCTCCTCCACAGACCTCCTCCTCCTCCACACCCCTCCTCCTCCT CCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATC CTCCTCCACACCCCTCCTCCAACCCCTCCTCCACACCCCTCCTCCTCCTC CACACCCCTCCTCCTCCTCCACACCCCTCCTCTTCCTCCTCCACACCCCT CCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCA CACCCCTCCTCTTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCC TCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCTTCCTCCTCC ACACCCCTTCTCCTCCTCCACACCCCTTCTCCTCCTCCACACCCCTCCTC CTCCTCCACACCCCTCCTCTTCCTCCTCACACCCCTCCTCCTCAACCCTC CTCCTTCACACCCCTCACCCCTTTTCCACATCCCTCCTCCTTGCCCCTCC TCCTCACCCTTTGTCCTACTCCACACCCCTTCTCCTCCTCCATACCCCTC CTTCTCAACCCTCCTCCTCCACACCCCTCCTCCTCACCCCTTCTCCTCCT CCACACCTGTCCTCCTCCACACTCATCCTCCTCACCGTTCCTCCACCACA TCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCTCCTCCAAACGCTT CTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCCACATCCCTCCCCC TCCATCCCCTCCACACCCCTCCCCCTCCTCACCCCGTCTCCTCCTCCACA CCCCTCCTCCACCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0051 a0001c0001t0006g0051	1	69	0.0145	1067	c.52 others(1078): Show c.5262_*5263insCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCC TCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCT CCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACA CCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCA CACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTC CTCCACACCCCTCCTCCAACCCCTCCTCCACAGACCTCCTCCTCCTCCAC ACCCCTCCTCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCC TCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCAACCCCTCCTCCACA CCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCTTC CTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACC CCTCCTCCTCCTCCACACCCCTCCTCTTCCTCCTCCACACCCCTCCTCCT CCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCC TCCTCTTCCTCCTCCACACCCCTTCTCCTCCTCCACACCCCTTCTCCTCC TCCACACCCCTCCTCCTCCTCCACACCCCTCCTCTTCCTCCTCACACCCC TCCTCCTCAACCCTCCTCCTTCACACCCCTCACCCCTTTTCCACATCCCT CCTCCTTGCCCCTCCTCCTCACCCTTTGTCCTACTCCACACCCCTTCTCC TCCTCCATACCCCTCCTTCTCAACCCTCCTCCTCCACACCCCTCCTCCTC ACCCCTTCTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCAC CGTTCCTCCACCACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTC CTCCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCT CCACATCCCTCCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTCACCCC GTCTCCTCCTCCACACCCCTCCTCCACCTCACA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2058		chr15	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(1060): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGAGGGAGGGAGGAATGG AGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG GAGGGGGAGGGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGG GGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGGAGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGG GAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAG GGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0028 a0005c0008t0028	a0005c0008t0028g0169 a0005c0008t0028g0169	1	97	0.0103	1067	c.923 others(1086): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCC TTCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCC TCCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCTTCCA CTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCT CCCTCCCTCCCTCCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DIP2C_chr10_269201_694668	478086	G G	GGGGAAAA others(1060): Show GGGGAAAAGAAGAGAGGGGAAGGGAGGGGAAGAGAGGGGAAAAGAAGAGA GGGGAAGGGAGGGGAGGGGAGGGGAAAAGAAGAGAGGGGAAGGGAGGGGA GGGGAGGGGAAAAGAAGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGGGA AAAGAAGAGGGGAAGGGAGAGGAGGGGAGGGGAAAAGAAGAGGGGAAGGG AGAGGAGGGGAGGGGAAAAGAAGAGAGGAAGGGAGGGGAGGGGAGGGGAG GGGAGGAGAGAAGAAGGGAGGGGAAGGGAGAGGGAAGAGAGAAGAAGGGA GAGAGAAGAAGGGAGGGGAAGGGAGAGGGAAGGGAGAGGGAAGAGAGAAG AAGGGAGAGAGAAGAAGGGAGGGGAAGGGAGAGGGAAGAGAGAAGAAGGG AGGGAAAGGGAGGGGAAGGAAGGGGAAGGGAGGAGAGGGGAAGGGAGGAG AAGGGAAGGGAGGAGAGAAGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGG AGGAGAGGAGGAGGGAGGGGAGGAGAGGAGGAGGGAGGGGAGGAGAGGAG GAGGGAGGGGAGGAGAGGAGGAGGGAGGGGAGGAGAGGAGGAGGGAGGGG AGGAGAGGAGGAGGGAGGGGAGGAGAGGAGGAGGGAGGGGAGGAGAGGAG GAGGGAGGGGAGGAGGAGGGAGGGGAGGAGGAGGGGAGGAGGAGGGAGGG GAGAAGAGGGGAGGGGAGGGGAGAAGAGGGGAGGGGAGGGGAGAAGAGGG GAGGAGAGGGGAGAAGAGGGGAGGGGAGGGGAGGGGAGAAGAGGGGAGGG GAGGGGAGGGGAGAAGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGAGGG GAGGGGAGGGGAGGGGAGAAGAGGGGAGGGGAGGGGAGGGGAGGGGAGAA GAGGGGAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGAGGGGAGGGGAGAA AAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGAGGGGAGAAGAGGGGAGGG GAGGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGAA GAAGGGAGGGGAGAAGAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0077 a0001c0007t0002g0077	1	82	0.0122	1067	c.158 others(1084): Show c.158-5538_158-5537insTTCTTCTCCCCTCCCTTCTTCTCCCCTC CCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTC TTCTCCCCTCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTTTTCTCCCCTC CCCTCTTCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCTTCTCCCCTC CCCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCCCCTCTTCTC CCCTCCCCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCCCCTC TTCTCCCCTCCCCTCCCCTCCCCTCTTCTCCCCTCTCCTCCCCTCTTCTC CCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCTCC TCCTCCCCTCCTCCTCCCCTCCCTCCTCCTCCCCTCCCTCCTCCTCTCCT CCCCTCCCTCCTCCTCTCCTCCCCTCCCTCCTCCTCTCCTCCCCTCCCTC CTCCTCTCCTCCCCTCCCTCCTCCTCTCCTCCCCTCCCTCCTCCTCTCCT CCCCTCCCTCCTCCTCTCCTCCCCTCCCTCCTCCTCTCCTCCCCTCCCTT CCCCTCCCTTCCCCTCCCTTCTTCTCTCCTCCCTTCCCTTCTCCTCCCTT CCCCTCTCCTCCCTTCCCCTTCCTTCCCCTCCCTTTCCCTCCCTTCTTCT CTCTTCCCTCTCCCTTCCCCTCCCTTCTTCTCTCTCCCTTCTTCTCTCTT CCCTCTCCCTTCCCTCTCCCTTCCCCTCCCTTCTTCTCTCTCCCTTCTTC TCTCTTCCCTCTCCCTTCCCCTCCCTTCTTCTCTCCTCCCCTCCCCTCCC CTCCCCTCCCTTCCTCTCTTCTTTTCCCCTCCCCTCCTCTCCCTTCCCCT CTTCTTTTCCCCTCCCCTCCTCTCCCTTCCCCTCTTCTTTTCCCCTCCCC TCCTCTCCCCTCCCTTCCCCTCTCTTCTTTTCCCCTCCCCTCCCCTCCCT TCCCCTCTCTTCTTTTCCCCTCCCCTCCCCTCCCTTCCCCTCTCTTCTTT TCCCCTCTCTTCCCCTCCCTTCCCCTCTCTTCTTTTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DNAH17_chr17_78418697_78582396	78438425	A A	AAGGAGGA others(1060): Show AAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAG GAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGG AGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGGGGGAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGGGGAGGA GGAGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGA GGAGGAGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGG GGAGGAGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGAGGA GGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGG AGGAGGAGGAGGAGGGAGGAGGAGGAGGGGAGGGAGGAGGAGGAGGGAGG AGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGG AGGAGGAGGAGGGAGGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGG AGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGG GAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGA GGAGGAGGAGGAGGAGAGGAGGAGGAGAGGAGGAGGAGGAGGAGGGAGGA GGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGG AGGAGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAG GAGGAGGAGGAGAAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGA GGAGGGAGGAGGAGGAGGAGGAGGAGGGGGGAGGAGGAGGAGGGAGGAGG AGGAGGGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGG AGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0036 a0036	a0036c0032 a0036c0032	a0036c0032t0001 a0036c0032t0001	a0036c0032t0001g0165 a0036c0032t0001g0165	1	224	0.0045	1067	c.118 others(1086): Show c.11806-558_11806-557insCCTCCTCCTCCTCCTCCTCCTCCTCC CTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCCCTCCTCCTCCTCC CTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTC CTCCTCCCTCCTCCCTCCTCCCTCCTCCTTCTCCTCCTCCTCCTCCCTCC TCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTCCTCCTCC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCT CCTCCTCCTCCTCCTCTCCTCCTCCTCTCCTCCTCCTCCTCCTCCTCCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCCTCCTC CCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCC TCCCTCCTCCTCCTCCCTCCTCCCTCCCTCCCTCCTCCTCCTCCCTCCTC CCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTC CTCCTCCTCCCTCCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCT CCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTC CCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTC CTCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCC CTCCTCCTCCCCCCTCCTCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCCT CCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCCTCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCCTCCTC CTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCT CCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438444	A A	AGGAGGAG others(1060): Show AGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGGAGG AGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGAGGAGGA GGAGGAGGAGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAG GAGGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGA GGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGA GGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGG GGAGGAGGGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGGG AGGAGGGAGGAGGGGAGGGAGGAGGGAGGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAG GGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAG GAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGG AGGAGGAGGGAGGAGGAGGAGGAGGGAGGGAGGAGGAGGGAGGAGGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGAGGAGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGG AGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAAGGAGGAG GGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGAAGGAG GAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGGAGGAGGGAGGAGG AGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGGGGAGGAGGGAGGAG GGAGGAGGAGGAGGGGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGGAG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0109 a0001c0109	a0001c0109t0001 a0001c0109t0001	a0001c0109t0001g0216 a0001c0109t0001g0216	1	246	0.0041	1067	c.118 others(1086): Show c.11806-577_11806-576insCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCTCCTCCC TCCTCCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCC CTCCTCCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTTCT CCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCT TCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTC CTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCTCCTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTC CTCCCTCCTCCTCCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTC CTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCC TCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCT CCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCCTCCCTCCTCCCTCCCCTCCTCCCTCCTCCCCCTCC TCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCTC CCCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTC CCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCTCC TCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCT CCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCTCCTCCTCCTCCTCCTC TCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCCT CCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
ERICH1_chr8_659200_736224	659568	A A	AGGGGGGT others(1060): Show AGGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGG GGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGGT GACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGGGTGAC CATCGAGATCTCCAGGGTGCACTGACCATCCTGGGGAGGGGGTGACCATC GAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGGGTGACCATCGAG ATCTCCGGTGTGCACTGAGCATCCTGGGGAGGGGGGTGACCATCGAGATC TCCAGGGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCG GTGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGT GCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGGGTGCAC TGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGAC CATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATC CTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGAGCATCCTGG GGAGGGGGTGACCATCGAGATCTCCAGGGTGCACTGACCATCCTGGGGAG GGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGG GTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGGGTG ACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGGTGACCA TCGAGATCTCCGGTGTGCACTGAGCATCCTGGGGAGGGGGTGACCATCGA GATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATC TCCGGTGTGCACTGAGCATCCTGGGGAGGGGGTGACCATCGAGATCTCCG GTGTGCACTGACCATCCTGGGGAGGGGGGTGACCATCGAGATCTCCGGTG TGCACTGAGCATCCTGGGGAGGGGGGTGACCATCGAGATCTCCGGTGTGC ACTGACCATCCTGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	363	0.0028	1067	c.50 others(1078): Show c.5034_*5035insCTCCCCAGGATGGTCAGTGCACACCGGAGATCTC GATGGTCACCCCCCTCCCCAGGATGCTCAGTGCACACCGGAGATCTCGAT GGTCACCCCCCTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGT CACCCCCTCCCCAGGATGCTCAGTGCACACCGGAGATCTCGATGGTCACC CCCTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCCT CCCCAGGATGCTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTCCCC AGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCCCTCCCCAGG ATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCCCTCCCCAGGATG GTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCA GTGCACCCTGGAGATCTCGATGGTCACCCCCTCCCCAGGATGCTCAGTGC ACACCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACAC CGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACCGGA GATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACCCTGGAGATC TCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGA TGGTCACCCCCTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGT CACCCCCTCCCCAGGATGGTCAGTGCACCCTGGAGATCTCGATGGTCACC CCCCTCCCCAGGATGCTCAGTGCACACCGGAGATCTCGATGGTCACCCCC CTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTCC CCAGGATGGTCAGTGCACCCTGGAGATCTCGATGGTCACCCCCCTCCCCA GGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTCCCCAGGAT GGTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTC AGTGCACACCGGAGATCTCGATGGTCACCCCCC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4631		chr8	TogoVar
HCN2_chr19_584881_622159	602382	C C	CCCTCCTC others(1060): Show CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCC TCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCT CCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCA CTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTC CTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTC TCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCC TGCGTGGACGCCCCACTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	371	0.0027	1067	c.633 others(1084): Show c.633-1130_633-1129insCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTC TCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGAC GCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCT CTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACG CCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTC CTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCAC TTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IFI44L_chr1_78615448_78651145	78634142	T T	TAGAAATC others(1060): Show TAGAAATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAA GACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGC CATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAG TTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGA TGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGT TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGAC TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGCAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAGCTTAGAGTATAATAAAAAAAAAAATTAAA AAAAAAAAAAAATGATACATGTATACAATGTGGTATGATTAAATTAGGCT AATTAACATATCCTTCGCCTCACATACTTATCATTACGTTGTAATATATT TTCATATTGGGTAAAATTAAATGTATTACTAAATTGACTTATTCTTTTTT TACTTTTTTAATGCAGCTATTAAAATATTTAAGATCACAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0025 a0003c0003t0025	a0003c0003t0025g0115 a0003c0003t0025g0115	1	425	0.0024	1067	c.724 others(1084): Show c.724-1188_724-1187insAAAAAGTGGGCGAAGGACATGAACAGAC ACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGC TCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATA TCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACA GGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGG GACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAG GGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTA TATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGT ATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAA ATGTCCAACAATGATAGACTGGATTAAGCAAATGTGGCACATATACACCA TGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGG ACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACA AAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGA GATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGG GGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGA TGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGT AACTAACCTGCACAATGTGCACATGTACCCTAAAGCTTAGAGTATAATAA AAAAAAAAATTAAAAAAAAAAAAAAATGATACATGTATACAATGTGGTAT GATTAAATTAGGCTAATTAACATATCCTTCGCCTCACATACTTATCATTA CGTTGTAATATATTTTCATATTGGGTAAAATTAAATGTATTACTAAATTG ACTTATTCTTTTTTTACTTTTTTAATGCAGCTATTAAAATATTTAAGATC ACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATC	IFI44L	ENSG00000137959.17	transcript	ENST00000370751.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TTCCCCTC others(1060): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTC CCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCC CCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCC TGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCC CCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCC TCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCT TCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTC CTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCT GCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCC TCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCT TCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCC CTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCT CCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCT GCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCC CCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTC CTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTC CCCTTCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCC TCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCC CTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCC CTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCT CCTCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	124	0.0081	1067	c.65 others(1078): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGG GGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGG AGGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGGG TACAGGAGGGGAGGGGGGCAGGAGGGCAGAAGGGGAGGGGGGCAGGAGGG CAGGAGGGGAGGGGGCAGGAGGGAAGGTGGGCAGGAGGGGAGGGGGGCAG GAGGGCAGGAGGGGAAGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAG GGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCA GGAGGGGAGGGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGG GGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGG GCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGA GGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGA GGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGC AGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGG AGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGG GCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGA AGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGA GGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGG CAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCA GGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGG GGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGG AAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
LRRC7_chr1_69562922_70149364	69916142	T T	TATATATT others(1060): Show TATATATTATATACATATTTTATATATATAATATATATATTATATACATA TTTTATATATATAATATATATATTATATACATATTTTATATATAATATAT ATATTATATACATATTTTATATATATAATATATATTATATACATATTTTA TATATATTATATATTATATACATATTTTATATATATAATATATATATTAT ATACATATTTTATATATATAATATATATATTATATACATATTTCATATAT ATAATATATATTATATACATATTTCATATATAATATATATATTATATACA TATTTTATATATTATATATATTATATACATATTTTATATATAATATATAT AATATACATATTTTATATATTATATACATATTTATATATAATATATATAA TATACATATTTTATATATATAATATATATAATATACATATTTTTATATAT ATAATATATATAATATACATATTTTATATATAATATATATAATATACATA TTTTATATATATAATATATATAATATACATATTTTATATATATAATATAT ATAATATACATATTTTATATATATAATATATATAATATACATATTTTATA TATAATATATATTATATACATATTTTATATATATAATATATATTATATAC ATATTTTTATATATATAATATATATTATATACATATTTTATATATATAAT ATATATTATATACATATTTTATATATATAATATATATTATATACATATTT TATATATATAATATATATTATATACATATTTTATATATATAATATATATT ATATACATATTTTATATATATAATATATATTATATACATATTTTATATAT ATAATATATATTATATACATATTTTATATATATAAATATTATTATATACA TATTTTATATATATAATATATATTATATACATATTTTATATATATAATAT ATATTATATACATATTTTATATATATAATATATATTATATACATATTTTA TATATAATATATAATATACATATTTTATATATATAATATATATATTATAT ACATATTTTATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0065 a0001c0001t0071g0065	1	71	0.0141	1067	c.648 others(1086): Show c.648-15359_648-15358insTATATACATATTTTATATATATAATA TATATATTATATACATATTTTATATATATAATATATATATTATATACATA TTTTATATATAATATATATATTATATACATATTTTATATATATAATATAT ATTATATACATATTTTATATATATTATATATTATATACATATTTTATATA TATAATATATATATTATATACATATTTTATATATATAATATATATATTAT ATACATATTTCATATATATAATATATATTATATACATATTTCATATATAA TATATATATTATATACATATTTTATATATTATATATATTATATACATATT TTATATATAATATATATAATATACATATTTTATATATTATATACATATTT ATATATAATATATATAATATACATATTTTATATATATAATATATATAATA TACATATTTTTATATATATAATATATATAATATACATATTTTATATATAA TATATATAATATACATATTTTATATATATAATATATATAATATACATATT TTATATATATAATATATATAATATACATATTTTATATATATAATATATAT AATATACATATTTTATATATAATATATATTATATACATATTTTATATATA TAATATATATTATATACATATTTTTATATATATAATATATATTATATACA TATTTTATATATATAATATATATTATATACATATTTTATATATATAATAT ATATTATATACATATTTTATATATATAATATATATTATATACATATTTTA TATATATAATATATATTATATACATATTTTATATATATAATATATATTAT ATACATATTTTATATATATAATATATATTATATACATATTTTATATATAT AAATATTATTATATACATATTTTATATATATAATATATATTATATACATA TTTTATATATATAATATATATTATATACATATTTTATATATATAATATAT ATTATATACATATTTTATATATAATATATAATATACATATTTTATATATA TAATATATATATTATATACATATTTTATATATATAATATAT	LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAD1L1_chr7_1810795_2237945	1996281	C C	CTACACAC others(1060): Show CTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTATACACAGCT CCTGGGCGGGCAGGGTCCCCCGGGTTTACACACGGCTCCTGGGCGGGCAG GGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCCG GGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCGGGTCTACACACGG CTCCTGGGCGGGCAGGGTCCCCCCGGGTCTATACACAGCTCCTGGGCGGG CAGGGTCCCCCGGGTTTACACACGGCTCCTGGGCGGGCAGGGTCCCCCGG GTTTACACACGGCTCCTGGGCGGGCAGGGTCCCCCGGGTTTACACACGGC TCCTGGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGG CAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCC GGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACAC GGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTCCTGGGCG GGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCC CCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTAC ACACGGCTCCTGGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCT GGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGG GTCCCCCCGGGTCTATACACGGCTCCTGGGCGGGCAGGGTCCCCCGGGTC TACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTC CTGGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCA GGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGACAGGGTCCCCCCG GGTCTACACACGGCTGCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACG GCTCCTGGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCG GGCAGGGTCCCCCGGGTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0077 a0001c0013t0001g0077	1	225	0.0044	1067	c.141 others(1086): Show c.1416+5783_1416+5784insAACCCGGGGGACCCTGCCCGCCCAGG AGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTA GACCCGGGGGGACCCTGCCCGCCCAGCAGCCGTGTGTAGACCCGGGGGGA CCCTGTCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCC CAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTG TGTAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGG GGACCCTGCCCGCCCAGGAGCCGTGTATAGACCCGGGGGGACCCTGCCCG CCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCG TGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCC GGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCT GCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGG AGCCGTGTGTAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAG ACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGACC CTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCA GGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTGTG TAAACCCGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAAACCCGGGGGA CCCTGCCCGCCCAGGAGCCGTGTGTAAACCCGGGGGACCCTGCCCGCCCA GGAGCTGTGTATAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGT AGACCCGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGG ACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGC CCAGGAGCCGTGTGTAAACCCGGGGGACCCTGCCCGCCCAGGAGCTGTGT ATAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1996281	C C	CTACACAC others(1060): Show CTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTATACACAGCT CCTGGGCGGGCAGGGTCCCCCGGGTTTACACACGGCTCCTGGGCGGGCAG GGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCCG GGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCGGGTCTACACACGG CTCCTGGGCGGGCAGGGTCCCCCCGGGTCTATACACAGCTCCTGGGCGGG CAGGGTCCCCCGGGTTTACACACGGCTCCTGGGCGGGCAGGGTCCCCCGG GTTTACACACGGCTCCTGGGCGGGCAGGGTCCCCCGGGTTTACACACGGC TCCTGGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGG CAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCC GGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACAC GGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTCCTGGGCG GGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCC CCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTAC ACACGGCTCCTGGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCT GGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGG GTCCCCCCGGGTCTATACACGGCTCCTGGGCGGGCAGGGTCCCCCGGGTT TACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTC CTGGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCA GGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGACAGGGTCCCCCCG GGTCTACACACGGCTGCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACG GCTCCTGGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCG GGCAGGGTCCCCCGGGTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	225	0.0044	1067	c.141 others(1086): Show c.1416+5783_1416+5784insAACCCGGGGGACCCTGCCCGCCCAGG AGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTA GACCCGGGGGGACCCTGCCCGCCCAGCAGCCGTGTGTAGACCCGGGGGGA CCCTGTCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCC CAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTG TGTAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAAACCCGGG GGACCCTGCCCGCCCAGGAGCCGTGTATAGACCCGGGGGGACCCTGCCCG CCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCG TGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCC GGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCT GCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGG AGCCGTGTGTAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAG ACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGACC CTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCA GGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTGTG TAAACCCGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAAACCCGGGGGA CCCTGCCCGCCCAGGAGCCGTGTGTAAACCCGGGGGACCCTGCCCGCCCA GGAGCTGTGTATAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGT AGACCCGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGG ACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGC CCAGGAGCCGTGTGTAAACCCGGGGGACCCTGCCCGCCCAGGAGCTGTGT ATAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1996281	C C	CTACACAC others(1060): Show CTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTATACACAGCT CCTGGGCGGGCAGGGTCCCCCGGGTTTACACACGGCTCCTGGGCGGGCAG GGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCCG GGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCGGGTCTACACACGG CTCCTGGGCGGGCAGGGTCCCCCCGGGTCTATACACGGCTCCTGGGCGGG CAGGGTCCCCCGGGTTTACACACGGCTCCTGGGCGGGCAGGGTCCCCCGG GTTTACACACGGCTCCTGGGCGGGCAGGGTCCCCCGGGTTTACACACGGC TCCTGGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGG CAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCC GGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACAC GGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTCCTGGGCG GGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCC CCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTAC ACACGGCTCCTGGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCT GGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGG GTCCCCCCGGGTCTATACACGGCTCCTGGGCGGGCAGGGTCCCCCGGGTT TACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTC CTGGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCA GGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGACAGGGTCCCCCCG GGTCTACACACGGCTGCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACG GCTCCTGGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCG GGCAGGGTCCCCCGGGTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01070.hp2 others(20): Show HG00140.hp1 HG00280.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01361.hp2 HG01884.hp1 HG01975.hp1 HG01978.hp2 HG02040.hp1 HG02132.hp1 HG02165.hp1 HG02273.hp2 HG02523.hp2 HG04199.hp1 NA18954.hp2 NA18967.hp2 NA19081.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0110 a0001c0001t0001g0236 a0001c0001t0002g0055 others(20): Show a0001c0001t0001g0110 a0001c0001t0001g0236 a0001c0001t0002g0055 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0122 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0201 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0003t0002g0083 a0002c0005t0001g0213 a0002c0005t0001g0240 a0002c0005t0002g0121	23	247	0.0931	1067	c.141 others(1086): Show c.1416+5783_1416+5784insAACCCGGGGGACCCTGCCCGCCCAGG AGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTA GACCCGGGGGGACCCTGCCCGCCCAGCAGCCGTGTGTAGACCCGGGGGGA CCCTGTCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCC CAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTG TGTAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAAACCCGGG GGACCCTGCCCGCCCAGGAGCCGTGTATAGACCCGGGGGGACCCTGCCCG CCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCG TGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCC GGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCT GCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGG AGCCGTGTGTAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAG ACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGACC CTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCA GGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTGTG TAAACCCGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAAACCCGGGGGA CCCTGCCCGCCCAGGAGCCGTGTGTAAACCCGGGGGACCCTGCCCGCCCA GGAGCCGTGTATAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGT AGACCCGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGG ACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGC CCAGGAGCCGTGTGTAAACCCGGGGGACCCTGCCCGCCCAGGAGCTGTGT ATAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1996281	C C	CTACACAC others(1060): Show CTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTATACACAGCT CCTGGGCGGGCAGGGTCCCCCGGGTTTACACACGGCTCCTGGGCGGGCAG GGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCCG GGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCGGGTCTACACACGG CTCCTGGGCGGGCAGGGTCCCCCCGGGTCTATACACGGCTCCTGGGCGGG CAGGGTCCCCCGGGTTTACACACGGCTCCTGGGCGGGCAGGGTCCCCCGG GTTTACACACGGCTCCTGGGCGGGCAGGGTCCCCCGGGTTTACACACGGC TCCTGGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGG CAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCC GGGTCTACACACGGCTCCTGGGTGGGCAGGGTCCCCCCGGGTCTACACAC GGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTCCTGGGCG GGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCC CCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTAC ACACGGCTCCTGGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCT GGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGG GTCCCCCCGGGTCTATACACGGCTCCTGGGCGGGCAGGGTCCCCCGGGTT TACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTC CTGGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCA GGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGACAGGGTCCCCCCG GGTCTACACACGGCTGCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACG GCTCCTGGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCG GGCAGGGTCCCCCGGGTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18999.hp2 HG02080.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0231 a0001c0001t0002g0232	2	226	0.0088	1067	c.141 others(1086): Show c.1416+5783_1416+5784insAACCCGGGGGACCCTGCCCGCCCAGG AGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTA GACCCGGGGGGACCCTGCCCGCCCAGCAGCCGTGTGTAGACCCGGGGGGA CCCTGTCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCC CAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTG TGTAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAAACCCGGG GGACCCTGCCCGCCCAGGAGCCGTGTATAGACCCGGGGGGACCCTGCCCG CCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCG TGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCC GGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCT GCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGG AGCCGTGTGTAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAG ACCCGGGGGGACCCTGCCCACCCAGGAGCCGTGTGTAGACCCGGGGGACC CTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCA GGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTGTG TAAACCCGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAAACCCGGGGGA CCCTGCCCGCCCAGGAGCCGTGTGTAAACCCGGGGGACCCTGCCCGCCCA GGAGCCGTGTATAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGT AGACCCGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGG ACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGC CCAGGAGCCGTGTGTAAACCCGGGGGACCCTGCCCGCCCAGGAGCTGTGT ATAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
NUMB_chr14_73270216_73463546	73294866	T T	TGCACTTT others(1060): Show TGCACTTTAGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAA GACCAGCCTGGCCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAA ATTCGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGATGTTGCAGTGAGCCG AGATTGCACCATTGCACTCCAGCCTAGGCGACAGAGCCAGACTCCATTTA AAAAAAAAAAAAAAAAACAAAAAAATTCTGTCTTTTAGTTTTTAAGACCA AAAGACTAAGTGTTTCTCACTGAAGTTAGAGCTACCCTATATGGTACAGA CTAGGGCCTATCCTTAGGCTAGAAGCTGTGAAATGGGAAATCACTCAATA CAATTTCCTTCTTCTAAGTGTCAGCTTTTCTCTAGAATCTATCTGCTTTG GGTTATTTTCTAGTGCCTTCGAATAATTGGGTTATTTTGTTTAGAATTTA CAGTTGTTTGCTAGAGGGTCAGTCCAACAGACGCTCTATTTAGCTATTGC TGCAAGTGAAACACACTGAAGAGTCATTTTAAAACTTGTTTTTCTAATTT TTTTCTTTGTAACATAAATTTCATTTCCATTCACATTTCCATCTACTAGT TCAATTACATTTCCATTTGCAATTCATTTAGCTCTTCTTTTTTTTTGATA CAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCAGCCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCTCCCGCCACCACGCCCAGCTAATTTTT TGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGTGTGAGCCACTGCACCTGGCCATTCATTTATCTCTTTTTCTAAG AAACTAAGAGTTACTATACTCAAGTAGGAACACTAGGCCAAGTGCAGTGG CTCACACCTGTAATCCCA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	116	0.0086	1067	c.310 others(1084): Show c.310-1993_310-1992insTGGGATTACAGGTGTGAGCCACTGCACT TGGCCTAGTGTTCCTACTTGAGTATAGTAACTCTTAGTTTCTTAGAAAAA GAGATAAATGAATGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGC TGGGCGTGGTGGCGGGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC CGGAGAATGGCGTGAACCCGGGAGGCTGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTATCAAAAAA AAAGAAGAGCTAAATGAATTGCAAATGGAAATGTAATTGAACTAGTAGAT GGAAATGTGAATGGAAATGAAATTTATGTTACAAAGAAAAAAATTAGAAA AACAAGTTTTAAAATGACTCTTCAGTGTGTTTCACTTGCAGCAATAGCTA AATAGAGCGTCTGTTGGACTGACCCTCTAGCAAACAACTGTAAATTCTAA ACAAAATAACCCAATTATTCGAAGGCACTAGAAAATAACCCAAAGCAGAT AGATTCTAGAGAAAAGCTGACACTTAGAAGAAGGAAATTGTATTGAGTGA TTTCCCATTTCACAGCTTCTAGCCTAAGGATAGGCCCTAGTCTGTACCAT ATAGGGTAGCTCTAACTTCAGTGAGAAACACTTAGTCTTTTGGTCTTAAA AACTAAAAGACAGAATTTTTTTGTTTTTTTTTTTTTTTTTTAAATGGAGT CTGGCTCTGTCGCCTAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTG CAACATCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAG TAGCTGGGATTACAGGCATCTGCCACCACACCCAGCGAATTTTTGTATTT TTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCT GACCTCAAGTGATCCACCCACCTCAGCCTCCTAAAGTGC	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	7/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73294866	T T	TGCACTTT others(1060): Show TGCACTTTAGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAA GACCAGCCTGGCCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAA ATTCGCTGGGTGTGGTGGCGGATGCCTGTAATCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGATGTTGCAGTGAGCCG AGATTACACCATTGCACTCCAGCCTAGGCGACAGAGCCAGACTCCATTTA AAAAAAAAAAAAAAACACAAAAAAATTCTGTCTTTTAGTTTTTAAGACCA AAAGACTAAGTGTTTCTCACTGAAGTTAGAGCTACCCTATATGGTACAGA CTAGGGCCTATCCTTAGGCTAGAAGCTGTGAAATGGGAAATCACTCAATA CAATTTCCTTCTTCTAAGTGTCAGCTTTTCTCTAGAATCTATCTGCTTTG GGTTATTTTCTAGTGCCTTCGAATAATTGGGTTATTTTGTTTAGAATTTA CAGTTGTTTGCTAGAGGGTCAGTCCAACAGACGCTCTATTTAGCTATTGC TGCAAGTGAAACACACTGAAGAGTCATTTTAAAACTTGTTTTTCTAATTT TTTTCTTTGTAACATAAATTTCATTTCCATTCACATTTCCATCTACTAGT TCAATTACATTTCCATTTGCAATTCATTTAGCTCTTCTTTTTTTTTGATA CAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCAGCCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCTCCCGCCACCACGCCCAGCTAATTTTT TGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTAACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGTGTGAGCCACTGCACCTGGCCATTCATTTATCTCTTTTTCTAAG AAACTAAGAGTTACTATACTCAAGTAGGAACACTAGGCCAAGTGCAGTGG CTCACACCTGTAATCCCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG02809.hp2 others(4): Show HG02486.hp1 HG02622.hp1 HG02809.hp2 HG03471.hp2 NA18906.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0020 a0001c0003t0005g0021 a0001c0003t0005g0022 others(4): Show a0001c0003t0005g0020 a0001c0003t0005g0021 a0001c0003t0005g0022 a0001c0003t0005g0023 a0001c0003t0005g0024 a0001c0003t0005g0025 a0001c0003t0005g0026	7	122	0.0574	1067	c.310 others(1084): Show c.310-1993_310-1992insTGGGATTACAGGTGTGAGCCACTGCACT TGGCCTAGTGTTCCTACTTGAGTATAGTAACTCTTAGTTTCTTAGAAAAA GAGATAAATGAATGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCAGATCACGAGGTTAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGC TGGGCGTGGTGGCGGGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC CGGAGAATGGCGTGAACCCGGGAGGCTGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTATCAAAAAA AAAGAAGAGCTAAATGAATTGCAAATGGAAATGTAATTGAACTAGTAGAT GGAAATGTGAATGGAAATGAAATTTATGTTACAAAGAAAAAAATTAGAAA AACAAGTTTTAAAATGACTCTTCAGTGTGTTTCACTTGCAGCAATAGCTA AATAGAGCGTCTGTTGGACTGACCCTCTAGCAAACAACTGTAAATTCTAA ACAAAATAACCCAATTATTCGAAGGCACTAGAAAATAACCCAAAGCAGAT AGATTCTAGAGAAAAGCTGACACTTAGAAGAAGGAAATTGTATTGAGTGA TTTCCCATTTCACAGCTTCTAGCCTAAGGATAGGCCCTAGTCTGTACCAT ATAGGGTAGCTCTAACTTCAGTGAGAAACACTTAGTCTTTTGGTCTTAAA AACTAAAAGACAGAATTTTTTTGTGTTTTTTTTTTTTTTTTAAATGGAGT CTGGCTCTGTCGCCTAGGCTGGAGTGCAATGGTGTAATCTCGGCTCACTG CAACATCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAG TAGCTGGGATTACAGGCATCCGCCACCACACCCAGCGAATTTTTGTATTT TTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCT GACCTCAAGTGATCCACCCACCTCAGCCTCCTAAAGTGC	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	7/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73294866	T T	TGCACTTT others(1060): Show TGCACTTTAGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAA GACCAGCCTGGCCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAA ATTCGCTGGGTGTGGTGGCGGATGCCTGTAATCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGATGTTGCAGTGAGCCG AGATTGCACCATTGCACTCCAGCCTAGGCGACAGAGCCAGACTCCATTTA AAAAAAAAAAAAAAACACAAAAAAATTCTGTCTTTTAGTTTTTAAGACCA AAAGACTAAGTGTTTCTCACTGAAGTTAGAGCTACCCTATATGGTACAGA CTAGGGCCTATCCTTAGGCTAGAAGCTGTGAAATGGGAAATCACTCAATA CAATTTCCTTCTTCTAAGTGTCAGCTTTTCTCTAGAATCTATCTGCTTTG GGTTATTTTCTAGTGCCTTCGAATAATTGGGTTATTTTGTTTAGAATTTA CAGTTGTTTGCTAGAGGGTCAGTCCAACAGACGCTCTATTTAGCTATTGC TGCAAGTGAAACACACTGAAGAGTCATTTTAAAACTTGTTTTTCTAATTT TTTTCTTTGTAACATAAATTTCATTTCCATTCACATTTCCATCTACTAGT TCAATTACATTTCCATTTGCAATTCATTTAGCTCTTCTTTTTTTTTGATA CAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCAGCCTCCCGGGTTCACGCCATTCTCCAGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCTCCCGCCACCACGCCCAGCTAATTTTT TGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTAACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGTGTGAGCCACTGCACCTGGCCATTCATTTATCTCTTTTTCTAAG AAACTAAGAGTTACTATACTCAAGTAGGAACACTAGGCCAAGTGCAGTGG CTCACACCTGTAATCCCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02129.hp2 HG02257.hp1 others(5): Show HG02109.hp2 HG02129.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02602.hp1 HG03490.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 others(5): Show a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0002g0120 a0001c0004t0001g0090 a0001c0004t0001g0091 a0001c0004t0001g0121	8	123	0.0650	1067	c.310 others(1084): Show c.310-1993_310-1992insTGGGATTACAGGTGTGAGCCACTGCACT TGGCCTAGTGTTCCTACTTGAGTATAGTAACTCTTAGTTTCTTAGAAAAA GAGATAAATGAATGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCAGATCACGAGGTTAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGC TGGGCGTGGTGGCGGGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC TGGAGAATGGCGTGAACCCGGGAGGCTGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTATCAAAAAA AAAGAAGAGCTAAATGAATTGCAAATGGAAATGTAATTGAACTAGTAGAT GGAAATGTGAATGGAAATGAAATTTATGTTACAAAGAAAAAAATTAGAAA AACAAGTTTTAAAATGACTCTTCAGTGTGTTTCACTTGCAGCAATAGCTA AATAGAGCGTCTGTTGGACTGACCCTCTAGCAAACAACTGTAAATTCTAA ACAAAATAACCCAATTATTCGAAGGCACTAGAAAATAACCCAAAGCAGAT AGATTCTAGAGAAAAGCTGACACTTAGAAGAAGGAAATTGTATTGAGTGA TTTCCCATTTCACAGCTTCTAGCCTAAGGATAGGCCCTAGTCTGTACCAT ATAGGGTAGCTCTAACTTCAGTGAGAAACACTTAGTCTTTTGGTCTTAAA AACTAAAAGACAGAATTTTTTTGTGTTTTTTTTTTTTTTTTAAATGGAGT CTGGCTCTGTCGCCTAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTG CAACATCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAG TAGCTGGGATTACAGGCATCCGCCACCACACCCAGCGAATTTTTGTATTT TTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCT GACCTCAAGTGATCCACCCACCTCAGCCTCCTAAAGTGC	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	7/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73294866	T T	TGCACTTT others(1060): Show TGCACTTTAGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAA GACCAGCCTGGCCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAA ATTCGCTGGGTGTGGTGGCGGATGCCTGTAATCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGATGTTGCAGTGAGCCG AGATTGCACCATTGCACTCCAGCCTAGGCGACAGAGCCAGACTCCATTTA AAAAAAAAAAAAAAACACAAAAAAATTCTGTCTTTTAGTTTTTAAGACCA AAAGACTAAGTGTTTCTCACTGAAGTTAGAGCTACCCTATATGGTACAGA CTAGGGCCTATCCTTAGGCTAGAAGCTGTGAAATGGGAAATCACTCAATA CAATTTCCTTCTTCTAAGTGTCAGCTTTTCTCTAGAATCTATCTGCTTTG GGTTATTTTCTAGTGCCTTCGAATAATTGGGTTATTTTGTTTAGAATTTA CAGTTGTTTGCTAGAGGGTCAGTCCAACAGACGCTCTATTTAGCTATTGC TGCAAGTGAAACACACTGAAGAGTCATTTTAAAACTTGTTTTTCTAATTT TTTTCTTTGTAACATAAATTTCATTTCCATTCACATTTCCATCTACTAGT TCAATTACATTTCCATTTGCAATTCATTTAGCTCTTCTTTTTTTTTGATA CAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCAGCCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCTCCCGCCACCACGCCCAGCTAATTTTT TGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTAACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGTGTGAGCCACTGCACCTGGCCATTCATTTATCTCTTTTTCTAAG AAACTAAAAGTTACTATACTCAAGTAGGAACACTAGGCCAAGTGCAGTGG CTCACACCTGTAATCCCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01256.hp2 others(6): Show HG01167.hp1 HG01169.hp2 HG01256.hp2 HG01515.hp2 HG02735.hp1 HG02738.hp2 HG03239.hp2 HG03927.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(6): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0274 a0002c0007t0001g0264	9	124	0.0726	1067	c.310 others(1084): Show c.310-1993_310-1992insTGGGATTACAGGTGTGAGCCACTGCACT TGGCCTAGTGTTCCTACTTGAGTATAGTAACTTTTAGTTTCTTAGAAAAA GAGATAAATGAATGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCAGATCACGAGGTTAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGC TGGGCGTGGTGGCGGGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC CGGAGAATGGCGTGAACCCGGGAGGCTGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTATCAAAAAA AAAGAAGAGCTAAATGAATTGCAAATGGAAATGTAATTGAACTAGTAGAT GGAAATGTGAATGGAAATGAAATTTATGTTACAAAGAAAAAAATTAGAAA AACAAGTTTTAAAATGACTCTTCAGTGTGTTTCACTTGCAGCAATAGCTA AATAGAGCGTCTGTTGGACTGACCCTCTAGCAAACAACTGTAAATTCTAA ACAAAATAACCCAATTATTCGAAGGCACTAGAAAATAACCCAAAGCAGAT AGATTCTAGAGAAAAGCTGACACTTAGAAGAAGGAAATTGTATTGAGTGA TTTCCCATTTCACAGCTTCTAGCCTAAGGATAGGCCCTAGTCTGTACCAT ATAGGGTAGCTCTAACTTCAGTGAGAAACACTTAGTCTTTTGGTCTTAAA AACTAAAAGACAGAATTTTTTTGTGTTTTTTTTTTTTTTTTAAATGGAGT CTGGCTCTGTCGCCTAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTG CAACATCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAG TAGCTGGGATTACAGGCATCCGCCACCACACCCAGCGAATTTTTGTATTT TTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCT GACCTCAAGTGATCCACCCACCTCAGCCTCCTAAAGTGC	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	7/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73294866	T T	TGCACTTT others(1060): Show TGCACTTTAGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAA GACCAGCCTGGCCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAA ATTCGCTGGGTGTGGTGGCGGATGCCTGTAATCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGATGTTGCAGTGAGCCG AGATTGCACCATTGCACTCCAGCCTAGGCGACAGAGCCAGACTCCATTTA AAAAAAAAAAAAAAACACAAAAAAATTCTGTCTTTTAGTTTTTAAGACCA AAAGACTAAGTGTTTCTCACTGAAGTTAGAGCTACCCTATATGGTACAGA CTAGGGCCTATCCTTAGGCTAGAAGCTGTGAAATGGGAAATCACTCAATA CAATTTCCTTCTTCTAAGTGTCAGCTTTTCTCTAGAATCTATCTGCTTTG GGTTATTTTCTAGTGCCTTCGAATAATTGGGTTATTTTGTTTAGAATTTA CAGTTGTTTGCTAGAGGGTCAGTCCAACAGACGCTCTATTTAGCTATTGC TGCAAGTGAAACACACTGAAGAGTCATTTTAAAACTTGTTTTTCTAATTT TTTTCTTTGTAACATAAATTTCATTTCCATTCACATTTCCATCTACTAGT TCAATTACATTTCCATTTGCAATTCATTTAGCTCTTCTTTTTTTTTGATA CAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCAGCCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCTCCCGCCACCACGCCCAGCTAATTTTT TGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTAACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGTGTGAGCCACTGCACCTGGCCATTCATTTATCTCTTTTTCTAAG AAACTAAGAGTTACTATACTCAAGTAGGAACACTAGGCCAAGTGCAGTGG CTCACACCTGTAATCCCA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01884.hp1 HG01891.hp1 others(16): Show HG01496.hp2 HG01884.hp1 HG01891.hp1 HG02109.hp1 HG02572.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03139.hp1 HG03209.hp2 HG03471.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0001g0141 a0001c0001t0001g0214 others(16): Show a0001c0001t0001g0019 a0001c0001t0001g0141 a0001c0001t0001g0214 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0003g0082	19	134	0.1418	1067	c.310 others(1084): Show c.310-1993_310-1992insTGGGATTACAGGTGTGAGCCACTGCACT TGGCCTAGTGTTCCTACTTGAGTATAGTAACTCTTAGTTTCTTAGAAAAA GAGATAAATGAATGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCAGATCACGAGGTTAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGC TGGGCGTGGTGGCGGGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC CGGAGAATGGCGTGAACCCGGGAGGCTGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTATCAAAAAA AAAGAAGAGCTAAATGAATTGCAAATGGAAATGTAATTGAACTAGTAGAT GGAAATGTGAATGGAAATGAAATTTATGTTACAAAGAAAAAAATTAGAAA AACAAGTTTTAAAATGACTCTTCAGTGTGTTTCACTTGCAGCAATAGCTA AATAGAGCGTCTGTTGGACTGACCCTCTAGCAAACAACTGTAAATTCTAA ACAAAATAACCCAATTATTCGAAGGCACTAGAAAATAACCCAAAGCAGAT AGATTCTAGAGAAAAGCTGACACTTAGAAGAAGGAAATTGTATTGAGTGA TTTCCCATTTCACAGCTTCTAGCCTAAGGATAGGCCCTAGTCTGTACCAT ATAGGGTAGCTCTAACTTCAGTGAGAAACACTTAGTCTTTTGGTCTTAAA AACTAAAAGACAGAATTTTTTTGTGTTTTTTTTTTTTTTTTAAATGGAGT CTGGCTCTGTCGCCTAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTG CAACATCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAG TAGCTGGGATTACAGGCATCCGCCACCACACCCAGCGAATTTTTGTATTT TTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCT GACCTCAAGTGATCCACCCACCTCAGCCTCCTAAAGTGC	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	7/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73294866	T T	TGCACTTT others(1060): Show TGCACTTTAGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAA GACCAGCCTGGCCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAA ATTCGCTGGGTGTGGTGGCGGATGCCTGTAATCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGATGTTGCAGTGAGCCG AGATTGCACCATTGCACTCCAGCCTAGGCGACAGAGCCAGACTCCATTTA AAAAAAAAAAAAAAACACAAAAAAATTCTGTCTTTTAGTTTTTAAGACCA AAAGACTAAGTGTTTCTCACTGAAGTTAGAGCTACCCTATATGGTACAGA CTAGGGCCTATCCTTAGGCTAGAAGCTGTGAAATGGGAAATCACTCAATA CAATTTCCTTCTTCTAAGTGTCAGCTTTTCTCTAGAATCTATCTGCTTTG GGTTATTTTCTAGTGCCTTCGAATAATTGGGTTATTTTGTTTAGAATTTA CAGTTGTTTGCTAGAGGGTCAGTCCAACAGACGCTCTATTTAGCTATTGC TGCAAGTGAAACACACTGAAGAGTCATTTTAAAACTTGTTTTTCTAATTT TTTTCTTTGTAACATAAATTTCATTTCCATTCACATTTCCATCTACTAGT TCAATTACATTTCCATTTGCAATTCATTTAGCTCTTCTTTTTTTTTGATA CAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCAGCCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGTTCCCGCCACCACGCCCAGCTAATTTTT TGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTAACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGTGTGAGCCACTGCACCTGGCCATTCATTTATCTCTTTTTCTAAG AAACTAAGAGTTACTATACTCAAGTAGGAACACTAGGCCAAGTGCAGTGG CTCACACCTGTAATCCCA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	116	0.0086	1067	c.310 others(1084): Show c.310-1993_310-1992insTGGGATTACAGGTGTGAGCCACTGCACT TGGCCTAGTGTTCCTACTTGAGTATAGTAACTCTTAGTTTCTTAGAAAAA GAGATAAATGAATGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCAGATCACGAGGTTAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGC TGGGCGTGGTGGCGGGAACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC CGGAGAATGGCGTGAACCCGGGAGGCTGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTATCAAAAAA AAAGAAGAGCTAAATGAATTGCAAATGGAAATGTAATTGAACTAGTAGAT GGAAATGTGAATGGAAATGAAATTTATGTTACAAAGAAAAAAATTAGAAA AACAAGTTTTAAAATGACTCTTCAGTGTGTTTCACTTGCAGCAATAGCTA AATAGAGCGTCTGTTGGACTGACCCTCTAGCAAACAACTGTAAATTCTAA ACAAAATAACCCAATTATTCGAAGGCACTAGAAAATAACCCAAAGCAGAT AGATTCTAGAGAAAAGCTGACACTTAGAAGAAGGAAATTGTATTGAGTGA TTTCCCATTTCACAGCTTCTAGCCTAAGGATAGGCCCTAGTCTGTACCAT ATAGGGTAGCTCTAACTTCAGTGAGAAACACTTAGTCTTTTGGTCTTAAA AACTAAAAGACAGAATTTTTTTGTGTTTTTTTTTTTTTTTTAAATGGAGT CTGGCTCTGTCGCCTAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTG CAACATCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAG TAGCTGGGATTACAGGCATCCGCCACCACACCCAGCGAATTTTTGTATTT TTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCT GACCTCAAGTGATCCACCCACCTCAGCCTCCTAAAGTGC	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	7/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73294866	T T	TGCACTTT others(1060): Show TGCACTTTAGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAA GACCAGCCTGGCCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAA ATTCGCTGGGTGTGGTGGCGGATGCCTGTAATCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGATGTTGCAGTGAGCCG AGATTGCACCATTGCACTCCAGCCTAGGCGACAGAGCCAGACTCCATTTA AAAAAAAAAAAAAAACACAAAAAAATTCTGTCTTTTAGTTTTTAAGACCA AAAGACTAAGTGTTTCTCACTGAAGTTAGAGCTACCCTATATGGTACAGA CTAGGGCCTATCCTTAGGCTAGAAGCTGTGAAATGGGAAATCACTCAATA CAATTTCCTTCTTCTAAGTGTCAGCTTTTCTCTAGAATCTATCTGCTTTG GGTTATTTTCTAGTGCCTTCGAATAATTGGGTTATTTTGTTTAGAATTTA CAGTTGTTTGCTAGAGGGTCAGTCCAACAGACGCTCTATTTAGCTATTGC TGCAAGTGAAACACACTGAAGAGTCATTTTAAAACTTGTTTTTCTAATTT TTTTCTTTGTAACATAAATTTCATTTCCATTCACATTTCCATCTACTAGT TCAATTACATTTCCATTTGCAATTCATTTAGCTCTTCTTTTTTTTTGATA CAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGATCTCGGC TCACTGCAAGCTCAGCCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCTCCCGCCACCACGCCCAGCTAATTTTT TGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGTGTGAGCCACTGCACCTGGCCATTCATTTATCTCTTTTTCTAAG AAACTAAGAGTTACTATACTCAAGTAGGAACACTAGGCCAAGTGCAGTGG CTCACACCTGTAATCCCA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	116	0.0086	1067	c.310 others(1084): Show c.310-1993_310-1992insTGGGATTACAGGTGTGAGCCACTGCACT TGGCCTAGTGTTCCTACTTGAGTATAGTAACTCTTAGTTTCTTAGAAAAA GAGATAAATGAATGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGC TGGGCGTGGTGGCGGGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC CGGAGAATGGCGTGAACCCGGGAGGCTGAGCTTGCAGTGAGCCGAGATCG CGCCACCGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTATCAAAAAA AAAGAAGAGCTAAATGAATTGCAAATGGAAATGTAATTGAACTAGTAGAT GGAAATGTGAATGGAAATGAAATTTATGTTACAAAGAAAAAAATTAGAAA AACAAGTTTTAAAATGACTCTTCAGTGTGTTTCACTTGCAGCAATAGCTA AATAGAGCGTCTGTTGGACTGACCCTCTAGCAAACAACTGTAAATTCTAA ACAAAATAACCCAATTATTCGAAGGCACTAGAAAATAACCCAAAGCAGAT AGATTCTAGAGAAAAGCTGACACTTAGAAGAAGGAAATTGTATTGAGTGA TTTCCCATTTCACAGCTTCTAGCCTAAGGATAGGCCCTAGTCTGTACCAT ATAGGGTAGCTCTAACTTCAGTGAGAAACACTTAGTCTTTTGGTCTTAAA AACTAAAAGACAGAATTTTTTTGTGTTTTTTTTTTTTTTTTAAATGGAGT CTGGCTCTGTCGCCTAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTG CAACATCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAG TAGCTGGGATTACAGGCATCCGCCACCACACCCAGCGAATTTTTGTATTT TTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCT GACCTCAAGTGATCCACCCACCTCAGCCTCCTAAAGTGC	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	7/12			chr14	TogoVar
PJA2_chr5_109329722_109414974	109353989	A A	ATCTATGA others(1060): Show ATCTATGATATCTAGAGATATCTATAGATTAGATATCTATATCTAGAGAT ATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATA TCTATATCAAGAGATGTCTATAGATTAGATATCTATATCTAGAGATGTCT ATAGATTAGATATCTATGATATCTAGAGATGTCTATAGAGTAGATATCTA TGATGTCTAGAGATTTCTATAGATTAGATATCTATGATGTCTAGAGATAT CTATAGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGATATC TATGATGTCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGAT ATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATA TCTATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAG ATATCTATAGATTAGATATCTATGCTATCTAGAGATATCTATAGATTAGA TATCTGTGATATCTAGAGATATCTATAGATTGGATATCTATATCTAGAGA TATCTATAGATTGGATATCTATGATATCTAGAGATATCTATAGATTAGAT ATCTATGATATCTAGAGATATCTATAGATTAGATAGATATCTAGAGATAT CTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATC TATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGAT ATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATA TCTATATCTAGAGATGTCTATAGATTAGATATCTATGATATCTAGAGATG TCTATAGATTAGATATCTATGATGTCTAGAGATTTCTATAGATTAGATAT CTATGATGTCTAGAGATTTCTATAGATTAGATATCTATGATGTCTAGAGA TATCTATAGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGAT ATCGATATCTAGAGATATCTATAGATTAGATATCTATATCTAGAGATATC TATAGATTAGATATCTAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0051 a0003c0003t0002g0051	1	218	0.0046	1067	c.176 others(1086): Show c.1764+1925_1764+1926insATAGATATCTAATCTATAGATATCTC TAGATATAGATATCTAATCTATAGATATCTCTAGATATCGATATCTAATC TATAGATATCTCTAGACATCATAGATATCTAATCTATAGATATCTCTAGA CATCATAGATATCTAATCTATAGAAATCTCTAGACATCATAGATATCTAA TCTATAGAAATCTCTAGACATCATAGATATCTAATCTATAGACATCTCTA GATATCATAGATATCTAATCTATAGACATCTCTAGATATAGATATCTAAT CTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAG ATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTA ATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCT AGATATCTATCTAATCTATAGATATCTCTAGATATCATAGATATCTAATC TATAGATATCTCTAGATATCATAGATATCCAATCTATAGATATCTCTAGA TATAGATATCCAATCTATAGATATCTCTAGATATCACAGATATCTAATCT ATAGATATCTCTAGATAGCATAGATATCTAATCTATAGATATCTCTAGAT ATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTAAT CTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAG ATATCATAGATATCTAATCTATAGATATCTCTAGACATCATAGATATCTA ATCTATAGATATCTCTAGACATCATAGATATCTAATCTATAGATATCTCT AGACATCATAGATATCTAATCTATAGAAATCTCTAGACATCATAGATATC TACTCTATAGACATCTCTAGATATCATAGATATCTAATCTATAGACATCT CTAGATATAGATATCTAATCTATAGACATCTCTTGATATAGATATCTAAT CTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAG ATATAGATATCTAATCTATAGATATCTCTAGATATCATAGA	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKP3_chr11_389209_409908	398199	A A	ATCACCTC others(1060): Show ATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACAT ATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCTACC CCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACC TCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACACACACCT GCGTCACCTCCATACCCCCACACACACCTGCGTCACCTCCGTACCCCCGC ACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCT ACCCCCACATATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACAC CTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCC GCACACACCTGCGTCACCTCCATACCCCCACACACACCTGCGTCACCTCC GTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCC CCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCATCACCTCCATACCCCCACACACACCTG CGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCA CACACCTCCGTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCTA CCCCCACATATACCTCATCACCTCCGTACACCCGCACATACCTGCGTCAC CTCCCTACCCCCACATATACCTCATCACCTCCGTACCCCCGCACACACCT GCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTA CCCCCGCACACACCTCCG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	2	206	0.0097	1067	c.106 others(1084): Show c.1069-663_1069-662insCGCACACACCTCCGTCACCTCCGTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCACACACACCTGCGTCACCT CCATACCCCCACACACACCTGCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACA TATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCATACCCCCACACACACCTGCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCACATATACCTCATCACCTCCGTACACCCGCACACACCTGCGTC ACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACA CCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCC CGCACACACCTGCATCACCTCCATACCCCCACACACACCTGCGTCACCTC CGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCC GTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCTACCCCCACAT ATACCTCATCACCTCCGTACACCCGCACATACCTGCGTCACCTCCCTACC CCCACATATACCTCATCACCTCCGTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCAC ACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCACATATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACC TCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
RASGEF1C_chr5_180095795_180214211	180134844	C C	CCATCCAC others(1060): Show CCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCC ACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCAC CCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTTCC CTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCAT CTACTCACCCATCCACCCACCCACCCATCCACCTTTCCCTCCATCTACTC ACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCAT CCACCCACCCACCCATCCACCTTCCCCTCCATCTATTCACCCATCCACCC ACCCACCCATCCACCTTTCCCTCCATCTACTCACCCATCCACCCACCCAC CCATCCACCTTTCCCTCCATCTACTCACCCATCCACCCACCCACCCATCC ACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTC CCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCC ATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTAC TCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCC ATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCACCCAC CCATCCACCTTCCCCTCCATTTATTCAACCTCCCACCCACCAACCCATCC ACCTTCCCCTCTATCTATTCAACTATTCAACCACCCACCCACCCACCCAC CATCCATCCACCTTCCGCTCCACCTATTCACCCATCCACCCACCCACCCA TCTACCTTTCTCTCCACCTATTCACCCATCCACCCACCCACCCATCTACC TTCCTCTCCATCTATTCAACTATCCACCCACCCACCCACCTATCCACTTT CCCCTCCATCTATTCAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp2 HG01261.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0182 a0001c0001t0001g0186	2	3	0.6667	1067	c.438 others(1084): Show c.438+1533_438+1534insTTTGAATAGATGGAGGGGAAAGTGGATA GGTGGGTGGGTGGGTGGATAGTTGAATAGATGGAGAGGAAGGTAGATGGG TGGGTGGGTGGATGGGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTG GGTGGATGGGTGAATAGGTGGAGCGGAAGGTGGATGGATGGTGGGTGGGT GGGTGGGTGGTTGAATAGTTGAATAGATAGAGGGGAAGGTGGATGGGTTG GTGGGTGGGAGGTTGAATAAATGGAGGGGAAGGTGGATGGGTGGGTGGGT GAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAG ATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAG GGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAG GTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGAT GGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGG GTGGGTGGATGGGTGAGTAGATGGAGGGAAAGGTGGATGGGTGGGTGGGT GGATGGGTGAGTAGATGGAGGGAAAGGTGGATGGGTGGGTGGGTGGATGG GTGAATAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGT AGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGG AGGGAAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGA AGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGAAAGGTGG ATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGT GGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGG GTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGAT GGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGA GTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATG	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13			chr5	TogoVar
SHOX_chrX_625791_656584	626428	C C	CGTTCCTC others(1060): Show CGTTCCTCTCTCTCTTTTTCTCTTTCTCTGTATCTCTATCTCTGTCTCTC TTTCTCTCTCTCCTCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGT CTCTACCTCTGTCTCTCTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTA TCTCTGTCTATCTCTGTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCT GTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTGTC TCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTCTCTCCT CTCTTTTTCTCTGTCTCTGTCTGTATCTCTGTCTATCTCTGTCTCTCTCT CTCCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTCTATCTCTGTCTCTC TTTCTCTCTGTCTTCGTTCCTCTCTCTCTTTTTCTCTTTCTCTGTATCTC TATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTGTCTCTTTTTCTCT GTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTCTCTCCTCTCTTTTTCTC TGTCTCTGTCTGTATCTCTGTCTATCTCTGTCTCTCTCTCTCCTCTCTCT CTTTCTCTGTCTCTGTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTGT CTTCGTTCCTCTCTCTCTTTTTCTCTTTCTCTGTATCTCTATCTCTGTCT CTCTTTCTCTCTCTCCTCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTG TGTCTCTACCTCTGTCTCTCTCTCTCCTCTCTTTTTCTCTGTCTCTGTCT GTATCTCTGTCTATCTCTGTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTC TCTGTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCT GTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTCTCT CCTCTCTTTTTCTCTGTCTCTGTCTGTATCTCTGTCTATCTCTGTCTCTC TCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTCTATCTCTGTCT CTCTTTCTCTCTGTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0154 a0001c0001t0154	a0001c0001t0154g0063 a0001c0001t0154g0063	1	160	0.0063	1067	c.-44 others(1078): Show c.-4470_-4469insGTTCCTCTCTCTCTTTTTCTCTTTCTCTGTATCT CTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTGTCTCTTTTTCTC TGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTCTCTCCTCTCTTTTTCT CTGTCTCTGTCTGTATCTCTGTCTATCTCTGTCTCTCTCTCTCCTCTCTC TCTTTCTCTGTCTCTGTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTC TCCTCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCT GTCTCTCTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTATCTCTGTCTA TCTCTGTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCT CTATCTCTGTCTCTCTTTCTCTCTGTCTTCGTTCCTCTCTCTCTTTTTCT CTTTCTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTC TGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTCTC TCCTCTCTTTTTCTCTGTCTCTGTCTGTATCTCTGTCTATCTCTGTCTCT CTCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTGTATCTCTATCTCTGTC TCTCTTTCTCTCTGTCTTCGTTCCTCTCTCTCTTTTTCTCTTTCTCTGTA TCTCTATCTCTGTCTCTCTTTCTCTCTCTCCTCTCTCTCTGTCTCTTTTT CTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTCTCTCCTCTCTTTT TCTCTGTCTCTGTCTGTATCTCTGTCTATCTCTGTCTCTCTCTCTCCTCT CTCTCTTTCTCTGTCTCTGTCTGTATCTCTATCTCTGTCTCTCTTTCTCT CTCTCCTCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACC TCTGTCTCTCTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTATCTCTGT CTATCTCTGTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTGTA TCTCTATCTCTGTCTCTCTTTCTCTCTGTCTTT	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4362		chrX	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(1060): Show ATATATATATAAATATATATAAATATATATAAATATATATATAAATATAT ATAAATATATATAAATATATATAAATATATATATAAATATATATAAATAT ATATAAATATATATATAAATATATATAAATATATATAAATATATATATAA ATATATATAAATATATATAAATATATATATAAATATATATAAATATATAT AAATATATAAATATATATAAATATATATATAAATATATATAAATATATAT ATAAATATATATAAATATATATAAATATATATATAAATATATATAAATAT ATATATAAATATATATAAATATATATAAATATATATATAAATATATATAC ATATATATAAATATATATAAATATATATACATATATAAATATATAAAAAA TATATAAATATATAAAAAATATATAAATATATAAAAATATATATAAATAT ATATAAATATATATACATATATATACATATATATAAATATATAAAAATAT ATAAATATATATAAATATAAATATATACAAATATATATATAAATATGTAT AAATATATAAAAATATATATATAAATATATAAAAATATATATATTAATAT ATAAAAATATATATATTAATATATAAAAATATATATAATATATATATAAA TATATATATATAAATATATATAAAAATATATATAAAAATATATATAAATA TATATAAATATATATAAATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATATAAATATATATAAACATATATA AATATATATAAAAATATATATAAATATATATAAATATATATAAATATATA TAAAAATATATATAAATATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATAAATATATAAAAAATATATATAAATATATAAAT ATATATATATAAATATATATAAATATATAAAAAAAATATATATAAATATA TATAAATATATTTATATATATAAATATATTTATATATAAATATAAATATA TATAAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	28	0.0357	1067	c.-50 others(1078): Show c.-5060_-5059insTATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATAAATATATATAAATATATATATAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATACATATATATAAATATATATAAATATATATACATATA TAAATATATAAAAAATATATAAATATATAAAAAATATATAAATATATAAA AATATATATAAATATATATAAATATATATACATATATATACATATATATA AATATATAAAAATATATAAATATATATAAATATAAATATATACAAATATA TATATAAATATGTATAAATATATAAAAATATATATATAAATATATAAAAA TATATATATTAATATATAAAAATATATATATTAATATATAAAAATATATA TAATATATATATAAATATATATATATAAATATATATAAAAATATATATAA AAATATATATAAATATATATAAATATATATAAATATATATAAATATATAT AAATATATATAAATATATATATAAATATATATAAATATATATATAAATAT ATATAAACATATATAAATATATATAAAAATATATATAAATATATATAAAT ATATATAAATATATATAAAAATATATATAAATATATATATAAATATATAT AAATATATATATAAATATATATAAATATATATAAATATATAAAAAATATA TATAAATATATAAATATATATATATAAATATATATAAATATATAAAAAAA ATATATATAAATATATATAAATATATTTATATATATAAATATATTTATAT ATAAATATAAATATATATAAATATATATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
SUFU_chr10_102498972_102638535	102637435	T T	TTATATAT others(1060): Show TTATATATTATATAACTATATATTATATATAATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATAATATATATATTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATAATATATATATTATATATTATATAACTATATATTATATATAATA TATTATATATTATATAACTATATATTATATATAATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTTTATATTATA TAACTATATATAATATATAATATATATATTTTATATTATATAACTATATA TTATATATAATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	256	0.0039	1067	c.72 others(1078): Show c.7280_*7281insTATATATTATATAACTATATATTATATATAATAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATTATATATTATATAACTATATATTATATATAAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTTTATATTATATAACTATATATAATATATAATATATATATTTTATA TTATATAACTATATATTATATATAATATATAAC	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3901		chr10	TogoVar
TCF3_chr19_1604292_1657615	1629129	C C	CAGAGCTC others(1060): Show CAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGA GGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAG CAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTG AGGCGGGAAGGGGACAGCAGAACTCACGGGGTGGGGCGGGAAGGGGACAG TAGAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGT GACGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGTGGGAAGGGGAC AGCAGAGCTCACGGTGGGGGCGGGAAGGGGACAGAAGAGCTCACGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGGGGCGGGAAGGGGACA GCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACA GCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTG AGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACA GCAGAACTCACGGGGTGGGGCGGGAAGGGGACAGTAGAGCTCACAGAGGG TGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGACGCGGGAAGGGGAC AGCAGAGCTCACGGGGGTGGGGTGGGAAGGGGACAGCAGAGCTCACGGTG GGGCGGGAAGGGGACAGAAGAGCTCACGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACGGGGATGGGGCGGGAAGGGGACAGAAGAGCTCACGGGGTG AGGCGGGAAGGGGACAGCAGAACTCACGGGGTGGGGCGGGAAGGGGACAG CAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATG GGGTGGGAAGGGGACAGCAGAGCTCACGGGGGGTGGAGCGGGAAGCGGAC AGCAGAGCTCATGGGGATGGGGTGGGAAGGGGACAGCAGAGCTCACGGTG GGGCGGGAAGGGGACAGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0013 a0004c0014t0013	a0004c0014t0013g0285 a0004c0014t0013g0285	1	174	0.0057	1067	c.299 others(1084): Show c.299-1704_299-1703insTCTGTCCCCTTCCCGCCCCACCGTGAGC TCTGCTGTCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCGCTTCC CGCTCCACCCCCCGTGAGCTCTGCTGTCCCCTTCCCACCCCATCCCCGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTT CCCGCCCCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGA GCTCTTCTGTCCCCTTCCCGCCCCATCCCCGTGAGCTCTGCTGTCCCCTT CCCGCCTCACCCCGTGAGCTCTTCTGTCCCCTTCCCGCCCCACCGTGAGC TCTGCTGTCCCCTTCCCACCCCACCCCCGTGAGCTCTGCTGTCCCCTTCC CGCGTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGA GCTCTACTGTCCCCTTCCCGCCCCACCCCGTGAGTTCTGCTGTCCCCTTC CCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGA GTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTC CCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGA GCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTC CCGCCCCATCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGA GCTCTTCTGTCCCCTTCCCGCCCCCACCGTGAGCTCTGCTGTCCCCTTCC CACCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCGTCACCCCGTGAG CTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCCCTT CCCGCCCCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTG AGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCTT CCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTG AGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TSPAN3_chr15_77036404_77076109	77038304	A A	AGAAAGGA others(1060): Show AGAAAGGAGGGGGGGGGGAGAGAGAAAGGAGGGAGGGGGGAGAGAGAGAA AGGAGGGAGGGGGGGAGAGGGAGGGGGGGAGAGGGAGGGGGGGAGAGAGA GGAGGGAGGGAGAGAGAAAGGAGGGGAGAGAGAGAGAGGAGGGAGGGGGA GAGAGGAGGGAGGGGGAGAGAGGAGGGGAGGGGGAGAGAGGAGGGAGGGG GAGAGAGGAGGGTGGGGGGGAGAGAGGAGGGAGGGAGAGAGAGAGAGGAG GGAGGGAGAGAGAGAGGAGGGAGGGGGAGAGAGAGAGAGGGAGGGGGAGA GGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGAGAGAGGAGGGAGGGAGG AGAGAGAGAGGAGGGAGGGGGAGAGAGAGAGAGAGGAGGGAGGGGGGAGA GAGAGAGGAGGGAGGGGGAGGAGAGAGAGAGGGGGAGGGGGAGAGAGAGA GGAGGGAGGAGGGGAGAGAGAGGAGGGGGACGGAGAGAGGAGGGAGGGGG AGGGAGAGAGGAGGGAGGGGGAGGGAGAGAGGAGAGAGGAGGGAGGGGGA GAGAGAGAGAAAGGAGGGAGGGGGAGAGAAAGGAGGGAGGGGGGAGAGAA AGGAGGGAGGGGGAGAGAGAAAGGGAGGGGGAGATAAAGGAGGGAGGGGG GAGAGAAAGGAGGGAGGGGGAGAGAAAGGAGGGAGGGGGAGAGAGAGAAA GGAGGGGGGGGAGAGAGAGAAAGGAGGGAGGGGGGAGAGAGAAAGGAGGG AGGGGGGGAGAGAGAAAGGAGGGAGGGGGGGAGAGAGAGAGAAAGGAGGG AGGGGGAGGAGAGAGAGAAAGGAGGAGGGAGGGGAGAGAGAGAAAGGAGG GAGGGGGAGAGAGAGAGAGAAAGGAGGGAGGGGAGAGAGAGAGAGAGAAA GGAGGGAGGGGGAGAGAGAGAGAGAAAGGAAGGAGGGGGAGAGAGAGAGA AAGGAGGGAGGGGGAGAGAGAGAGAAAGGAGGGAGAGGGGGGGGAGAGAG AGAGAAAGGAGGGAGGGGGAGAGAGAGAGAGAGAAAGGATGTGAGGGGGG AGAGAGAGGAGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	2	0.5000	1067	c.85 others(1078): Show c.8530_*8531insCCCCTCCCTCCTCTCTCTCCCCCCTCACATCCTT TCTCTCTCTCTCTCTCCCCCTCCCTCCTTTCTCTCTCTCTCCCCCCCCTC TCCCTCCTTTCTCTCTCTCTCCCCCTCCCTCCTTTCTCTCTCTCTCCCCC TCCTTCCTTTCTCTCTCTCTCTCCCCCTCCCTCCTTTCTCTCTCTCTCTC TCCCCTCCCTCCTTTCTCTCTCTCTCTCCCCCTCCCTCCTTTCTCTCTCT CCCCTCCCTCCTCCTTTCTCTCTCTCCTCCCCCTCCCTCCTTTCTCTCTC TCTCCCCCCCTCCCTCCTTTCTCTCTCCCCCCCTCCCTCCTTTCTCTCTC CCCCCTCCCTCCTTTCTCTCTCTCCCCCCCCTCCTTTCTCTCTCTCCCCC TCCCTCCTTTCTCTCCCCCTCCCTCCTTTCTCTCCCCCCTCCCTCCTTTA TCTCCCCCTCCCTTTCTCTCTCCCCCTCCCTCCTTTCTCTCCCCCCTCCC TCCTTTCTCTCCCCCTCCCTCCTTTCTCTCTCTCTCCCCCTCCCTCCTCT CTCCTCTCTCCCTCCCCCTCCCTCCTCTCTCCCTCCCCCTCCCTCCTCTC TCCGTCCCCCTCCTCTCTCTCCCCTCCTCCCTCCTCTCTCTCTCCCCCTC CCCCTCTCTCTCTCCTCCCCCTCCCTCCTCTCTCTCTCCCCCCTCCCTCC TCTCTCTCTCTCTCCCCCTCCCTCCTCTCTCTCTCCTCCCTCCCTCCTCT CTCTCTCTCCCCCTCCCTCCTCTCTCCCCCTCCCTCTCCCCCTCCCTCTC TCTCTCTCCCCCTCCCTCCTCTCTCTCTCCCTCCCTCCTCTCTCTCTCTC CCTCCCTCCTCTCTCCCCCCCACCCTCCTCTCTCCCCCTCCCTCCTCTCT CCCCCTCCCCTCCTCTCTCCCCCTCCCTCCTCTCTCCCCCTCCCTCCTCT CTCTCTCTCCCCTCCTTTCTCTCTCCCTCCCTCCTCTCTCTCCCCCCCTC CCTCTCCCCCCCTCCCTCTCCCCCCCTCCCTCCTTTCTCTCTCTCCCCCC TCCCTCCTTTCTCTCTCCCCCCCCCCTCCTTTC	TSPAN3	ENSG00000140391.15	transcript	ENST00000267970.9	protein_coding		3099		chr15	TogoVar
ULK1_chr12_131889622_131928150	131917123	G G	GTCGGGTG others(1060): Show GTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCG GGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGC TCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGC TGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAT GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTC GGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ATGGGGGTCGGGTTCGGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	203	0.0049	1067	c.218 others(1082): Show c.2182+65_2182+66insGTGGGGCTCGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCT GTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGT GGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGG GACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGG CTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATG GGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGG CTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGG GTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGT GGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGG GGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA TGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGG GGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGG GATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(1060): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAACAACAACAACAAAGAAAAAAAAAAACAAATGAAC AAAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTG TTTCACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCGGG GTTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATAAGGTGTTTC ACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCAT GAGCCACCGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTCTTTC TCTTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCACGGTGGC TCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	119	0.0084	1067	c.51 others(1078): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCGGTGGCTCATGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCTTATTGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCAACCCCGCTAAAACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGG CGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAGAGTGAAACACCATCTCAAAAACA ACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTTTTTT TTTTCTTTGTTGTTGTTGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar

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