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
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(616): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGG GAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGG GTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGG GAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGG GAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAGG GGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGG GGAGGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGGGAGGGGGAGGGGGA GGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGA GGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGGGAGG GAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGA GGGGGAGGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGG GAGGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0017 a0003c0003t0017	a0003c0003t0017g0004 a0003c0003t0017g0004	1	8	0.1250	623	c.250 others(638): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCCTCCCTCCC TTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCCCTCCCCCTCCACT CCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCC CCTCCCCTCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCC TCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCC TCCCCCTCCCCCCTCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTT CCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTT CCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTC CCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCC CTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(616): Show TCTGCTCTCCCCTCCCCTCTTCCCTCCCCTCTCCCCTCCCCCTCCCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTC CCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTC TCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCTTCCCCTCCTCCCCTCCTCCCCTCGTCCCCT CCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCT CGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	4	0.2500	623	c.114 others(642): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCTTCCCTCCCC TCTCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCC CCTCCCGTCTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCTTCCCCTCCT CCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(616): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCG GCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAAC CCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACC CCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	246	0.0041	623	c.-8+ others(636): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MSR1_chr8_16102881_16197651	16189536	A A	ATTATATA others(616): Show ATTATATATATATAAAATCTTATTTTATATATATTTTATATATATAAAAT CTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTT TATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTA TTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATA TATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTT ATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATA TAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATAT ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATAT TTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCT TATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTA TATATATAAAATCTTATTTTATATATATTTTATATATAAAATCTTATTTT ATATATATTTTATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0074 a0001c0001t0022g0074	1	328	0.0030	623	c.-5+ others(638): Show c.-5+3061_-5+3062insAGATTTTATATATAAAATATATATAAAATA AGATTTTATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATAT ATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATA TATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAA AATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATA TAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATA AGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAA ATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGAT TTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATAT ATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTA TATATATAAAATATATATAAAATAAGATTTTATATATATATAA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NOTCH1_chr9_136489433_136551048	136535933	G G	GGTGGGTG others(616): Show GGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTG CAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCTGGGGCA ATGGGTGCAGGGTGGGTGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGG CAATGGGTGCAGGGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGG GGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCC CGGGGCAATGGGTGCAGGGTGGGA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0003 a0001c0017t0003	a0001c0017t0003g0184 a0001c0017t0003g0184	1	307	0.0033	623	c.140 others(640): Show c.140+8090_140+8091insTCCCACCCTGCACCCATTGCCCCGGGAG GGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCC GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCCCACCCACCCTGCACCCATTGCC CCAGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACC CATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRXN2_chr11_64601174_64728197	64706173	T T	TATATATT others(616): Show TATATATTATATATATAAAGTATATATATAATATATATAAATATATATTA TATATATAAAGTATATATATAATATATATTATATATATAAAGTATATATA TAATATATATAATATATATTATATATATAAAGTATATATATAATATATAT AATATATATTATATATAAAAAGTATATATATAATATATATAATATATATT ATATATATAAAGTATATATATAATATATATAATATATATTATATATATAA AGTATATATATTATATATATAATATATATTATATATATAAAGTATATATA TAATATATATAATATATATTATATCTAAAGTATATTATAATATATATAAT ATATATTATATATATAAAGTATATATATAATATATATAATATATATTATA TATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGT ATATATATATATATATAATATATATTATATATATAAAGTATATATATAAT ATATATAATATATATTATATATATAAAGTATATATATAATATATATTATA TATAAAGTATATATATAATATATATTATATATATATAAATATATAATATA TATTATATATATAAGATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0251 a0001c0001t0004g0251	1	305	0.0033	623	c.730 others(640): Show c.730+6796_730+6797insTATATATATCTTATATATATAATATATA TTATATATTTATATATATATAATATATATTATATATATACTTTATATATA ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATAATATATATTATATATATATATATATACTT TATATATATAATATATATTATATATATTATATATATACTTTATATATATA ATATATATTATATATATTATATATATACTTTATATATATAATATATATTA TATATATTATAATATACTTTAGATATAATATATATTATATATATTATATA TATACTTTATATATATAATATATATTATATATATAATATATATACTTTAT ATATATAATATATATTATATATATTATATATATACTTTATATATATAATA TATATTATATATATTATATATATACTTTTTATATATAATATATATTATAT ATATTATATATATACTTTATATATATAATATATATTATATATATTATATA TATACTTTATATATATAATATATATTATATATATACTTTATATATATAAT ATATATTTATATATATTATATATATACTTTATATATATAATATAT	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TGTCTCCT others(616): Show TGTCTCCTCTCCTCGCCTCGCCTCGCCTCGCCTCGCCTCGCCTCGCCCCG CCCCGCCCCGCCCGCCCCGCCCCCGCCCCGCCCCGCCCCGCCCCGCCCCG CCCCCGCCCCGCTCCCCTCCGCTCCGCTCCGCCCCGCCCCGCCCCGCCCC GCCCCGCCCCGCCCCGCCCCGCCCCGCTCCGCCCCGCCCCGCCCCGCCCC CCGCCCCGCCCCGCCCCGCCCCGCCCCGCCTCGCCTCGCCCCGCCTCTCC TCCCTCTCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCT CTCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCTCTCCTCTCCTCTCCTAC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCACCCTCCCCTCTCCCCTCC CCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCCTCCCCTC CCCTCCCCCTTCCCCTCCCCCTCCCGCTTCCCCCTCCCCTCCCCTCCCCC TCCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTC CCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0242 a0001c0001t0006g0242	1	206	0.0049	623	c.433 others(640): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGGGAAGGGGGAGGGG GAGGGGAGGGGAGGGGGAAGCGGGAGGGGGAGGGGAAGGGGGAGGGGAGG GGAGGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAG GGGAGAGGGGAGGGTGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGTAG GAGAGGAGAGGAGAGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGGG GAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGGGAGGAG AGGCGGGGCGAGGCGAGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGGG CGGGGCGGGGCGGGGCGGAGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGG CGGGGCGGGGCGGGGCGGAGCGGAGCGGAGGGGAGCGGGGCGGGGGCGGG GCGGGGCGGGGCGGGGCGGGGCGGGGGCGGGGCGGGCGGGGCGGGGCGGG GCGAGGCGAGGCGAGGCGAGGCGAGGCGAGGCGAGGAGAGGAGAC	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(616): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCA GGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCCGG GAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	59	0.0169	623	c.155 others(642): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(616): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGATCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTACACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAACAAAA AGAGATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0284 a0001c0001t0004g0284	1	299	0.0033	623	c.876 others(638): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGG AGTGTAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCA CCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTGTTAGCCAGGATGATCTCGATCTCCTGACCTTGTGATCCGCCCGCCT CAGCCTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCC AACTCTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTG GCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCAC AAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTC TACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGG AGGCTGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
PIGN_chr18_62036164_62192056	62039600	C C	CCATGTTT others(616): Show CCATGTTTAGGGCCCCATCCAGAGTGCCGCAACCCCATGATTAGGGCCCA TTCAGGGTGCCGCACCCCATGTTTAGGGCCCATCCAGGGTGCCGCACCCC ATGTTTAGGGCCCCATCCAGGGTGCCGCACATCATGTTTAGGGCCCCATC CAGGGTGCCGCACCCCATGTTTAGGGCCCATCCAGAGTGCCGCACCCCAT GTTTAGGGCCCCATCGACGATGCCGCACCCCATGTTTAGGGCCCCTTCCA GGGTGCCGCACCCCATGTTTAGGGCCCAGCCAGGGTGCCGCAACTCATGT TTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGG GTGCCGCACATCATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTT TAGGGCCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGAG TGCCGCACCCCATGTTTAGGGCCCCATCGACGATGCCGCACCCCATGTTT AGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCAGCCAGGGTG CCGCAACTCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAG GGCCCCATCCAGGGTGCCGCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0038 a0001c0003t0002g0038	1	274	0.0036	623	c.62 others(634): Show c.6255_*6256insATGTGCGGCACCCTGGATGGGGCCCTAAACATGG GGTGCGGCACCCTGGAAGGGGCCCTAAACATGAGTTGCGGCACCCTGGCT GGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGGGG TGCGGCATCGTCGATGGGGCCCTAAACATGGGGTGCGGCACTCTGGATGG GGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGT GCGGCACCCTGGATGGGGCCCTAAACATGATGTGCGGCACCCTGGATGGG GCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGAGTTG CGGCACCCTGGCTGGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGC CCTAAACATGGGGTGCGGCATCGTCGATGGGGCCCTAAACATGGGGTGCG GCACTCTGGATGGGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCC TAAACATGATGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGTGCGGC ACCCTGGATGGGCCCTAAACATGGGGTGCGGCACCCTGAATGGGCCCTAA TCATGGGGTTGCGGCACTCTGGATGGGGCCCTAAACATG	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding		1563		chr18	TogoVar
PLCXD1_chrX_276381_308356	280556	A A	AGGGAGGC others(616): Show AGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAAGGGAGGCCG TGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGA AGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCC GTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAG AGGGGAAGACGTGCAGGCGGAGCGGGGGCCGTGCAGGCGGAGGGGAGGCC GTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGG AAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGC CGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCA GAGGGGAAGACGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAGGGGAGGC CGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCG GAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAGGGAGG CCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGC GGAGCGGGGGCCGTGCAGGCGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0102 a0006c0011t0102	a0006c0011t0102g0017 a0006c0011t0102g0017	1	160	0.0063	623	c.-11 others(634): Show c.-1150_-1149insGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAG GGGGAAGGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGA GGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAG GGGGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGG AGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGCGGAGCGGGGGCCGTGCA GGCGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGG AGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCA GGGGGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGG GAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAAGGGAGGCCGTGC AGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGG GAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTG CAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGG GGAAGACGTGCAGGCGGAGCGGGGGCCGTGCAGGCGGAG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		824		chrX	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(616): Show AAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCGGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATATGTGTATATATATATATATATTA TATATGTGTATATATATATATATATATTATATATGCATATTATGTTTAGG ACACAGCTGAGGAAAAGGGGTTAAAACAGGGAATTCTGTTAGACCCCATT CATTCATCTCTCAGGTGTTTCTTGAGCCTCTTATCCATGTTAGGAACTGT GGTCATTTTGTGGCCACTGAGGAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp2 HG01081.hp1 others(1): Show HG00140.hp1 HG00733.hp2 HG01081.hp1 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 others(1): Show a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0003g0297	4	66	0.0606	623	c.98- others(638): Show c.98-1437_98-1436insTCAAGGAATTCATAGACTAGCAGAAGAGGG AAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGA GGCCTCCGGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCA GTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGT ACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGA TTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGG GGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTG AGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTC CTACTATATATATATATATGTGTATATATATATATATATTATATATGTGT ATATATATATATATATATTATATATGCATATTATGTTTAGGACACAGCTG AGGAAAAGGGGTTAAAACAGGGAATTCTGTTAGACCCCATTCATTCATCT CTCAGGTGTTTCTTGAGCCTCTTATCCATGTTAGGAACTGTGGTCATTTT GTGGCCACTGAGGACAAAAAAAATGGGTGTCACTGTCCAGCTC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(616): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGT GGGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGA GACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCAGGAGACGGTGGGA GGTGGTGGGAGGTGGTGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	2	0.5000	623	c.-25 others(634): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCACCTCCCACCGTC TCCTGCCGCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATC TCCGTCTCCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCC GCCGTCTCCCACCACCTCCCACCACCTCCCCGCCGTCTCCCACCACCTCC CACCGTCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCC CACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCC GTCTCCCACCACTTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACC ACCTCCCGCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACC ATCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACC ACATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACC ACCTGCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACC ACCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACT GTCTCCCACTACCTCCCACCATCTCCCACGACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(616): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCA CCTCCCTCCCGGAGGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	68	0.0147	623	c.139 others(642): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCCACCTCCC TCCCGGAGGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGGGCAGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGT GGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTG ACCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPRH_chr19_55176247_55214501	55207842	G G	GACCTCTG others(616): Show GACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTG AGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGCT GGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGG AGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGG GGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGTCTCGACCTC TGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAG GAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGCTGGGGGT CTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGA GGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGG ACTCCTGGGTCTGAGGGAGGAGGGCCTGGGGGCCTGGGGGCCTGGGTCTG AGGGAGGAGGGGCTGGGGGTCTCA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	367	0.0027	623	c.52- others(636): Show c.52-644_52-643insTGAGACCCCCAGCCCCTCCTCCCTCAGACCCA GGCCCCCAGGCCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGACCC CAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCC CTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAG CCCCTACTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCA GACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGA GACCCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAGCCC CTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAA CCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGA CCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAGCCCCTA CTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACTCA GGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGT	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55208009	A A	AGGGGCTG others(616): Show AGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCC TGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGGTCTGGATTCCTGGGT CTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAG GTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGA CTCCTGGGTCTGAGGGAGTAGGGGCTGGGGGTCTGGATTCCTGGGTCTGA GGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTC CTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGA GGAGGGCCTGGGGGCCTGGGGGCCTGGGTCTGAGGGAGGAGGGGCTGGGG GTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGA GTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGTAG GGGCTGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCT GGACTCCTGGGTCTGAGGGAGGAG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	376	0.0027	623	c.52- others(636): Show c.52-811_52-810insCTCCTCCCTCAGACCCAGGAGTCCAGACCCCC AGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAGCCCCTACTCCC TCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACTCAGGAGT CCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCC CCTCCTCCCTCAGACCCAGGCCCCCAGGCCCCCAGGCCCTCCTCCCTCAG ACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAG GCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCCTC CTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCC AGGAATCCAGACCCCCAGCCCCTACTCCCTCAGACCCAGGAGTCCAGACC CCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTC CCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGA ATCCAGACCCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCA ACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCC	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(616): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATAATGGTGATGGTGATGGTAGTGGTGATG GGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGAT GGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGG TGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATG GTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGT GGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 NA18948.hp2 HG02056.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0205 a0001c0001t0001g0141 a0001c0001t0001g0205	2	200	0.0100	623	c.-46 others(634): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATAATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGAT GATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGAT GGTGATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGA TGGTGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTG GTAATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGAT GGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RGS12_chr4_3288021_3444913	3341502	G G	GGGCGGAG others(616): Show GGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTG GAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGG GGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACA AGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTG GGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAG AGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGG AGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATG GGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGG GTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGT GGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGA GAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGA GGGAGGGTGGAGAGATGGGGGTGT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0193 a0001c0006t0001g0193	1	212	0.0047	623	c.188 others(642): Show c.1882-1434_1882-1433insGCGGAGGGGAGGGTGGAGAGATGGGG GTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTG GAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGG GGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAG ATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGG AGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGG TGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGT GGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGG CGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAG AGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGG GAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGG TGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGG GTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(616): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGG GAGTGAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGG GGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGG GTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGG GGTGAGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0017 a0008c0013t0017	a0008c0013t0017g0241 a0008c0013t0017g0241	1	85	0.0118	623	c.261 others(640): Show c.261+1222_261+1223insAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGG TGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTG TGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTG TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGG GTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGG GGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGG GGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGGTGA GTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(616): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTGTATATATACACATATA AAATATATATACATATGTTTTATATGTATATATACATATAAAATATATAT ACATATGTTTTATATGTATATATACATATAAAATATATATACATATGTTT TATATGTATATATATACATATAAAATATATATACATATAAAATATATACA TATAAAATATATATACATATGTTTTATATGTATATATACATATAAAACAT ATATACATATGTTTTATATGTATATATACATATAAATATATATACATATG TTTTATATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02080.hp2 HG03704.hp1 others(4): Show HG00558.hp2 HG02080.hp2 HG03704.hp1 NA18981.hp2 NA18988.hp2 NA18990.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0264 a0001c0001t0001g0265 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0279	7	164	0.0427	623	c.626 others(640): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAAT ATATATACATATGTTTTATATGTATATATACATATAAAATATATATACAT ATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATA TGTATATATATACATATAAAATATATATACATATAAAATATATACATATA AAATATATATACATATGTTTTATATGTATATATACATATAAAACATATAT ACATATGTTTTATATGTATATATACATATAAATATATATACATATGTTTT ATATGTATATATATACATAGAAAATATATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(616): Show TAAAATATATATACGTATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTGTATATATACACATATA AAATATATATACATATGTTTTATATGTATATATACATATAAAATATATAT ACATATGTTTTATATGTATATATACATATAAAATATATATACATATGTTT TATATGTATATATATACATATAAAATATATATACATATAAAATATATACA TATAAAATATATATACATATGTTTTATATGTATATATACATATAAAACAT ATATACATATGTTTTATATGTATATATACATATAAATATATATACATATG TTTTATATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	158	0.0063	623	c.626 others(640): Show c.626+5422_626+5423insGTATGTTTTATAAGTGTATATATACACA TATAAAATATATATACATATGTTTTATAAGTGTATATATACACATAAAAT ATATATACATATGTTTTATATGTGTATATATACACATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGT TTTATATGTGTATATATACACATATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTATATATACATATAAA ATATATATACATATGTTTTATATGTATATATACATATAAAATATATATAC ATATGTTTTATATGTATATATATACATATAAAATATATATACATATAAAA TATATACATATAAAATATATATACATATGTTTTATATGTATATATACATA TAAAACATATATACATATGTTTTATATGTATATATACATATAAATATATA TACATATGTTTTATATGTATATATATACATAGAAAATATATATAC	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC45A1_chr1_8313114_8349165	8322284	A A	ATGGATGG others(616): Show ATGGATGGATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGAT GCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGG GTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGCGTGGGT GGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGG ATGGGTGGGTGTGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGAT GAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGG ATGCGTGGGTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGAT GGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGG ATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGAT GGATGGGTGGATGAGTGGATGGATGGATGGATAGATGGGTGGGTGGATGG ATGGATGAGTGGGTGGATGGATGGGTGGATGATGGATGGGTGGGTGGATG GATGGGTGGGTGGGTGGATGGGTGGGTGGATGGATGGGTGGGTGGGTGGA TGGGTGGATGGATGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA20300.hp2 HG03225.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	2	374	0.0053	623	c.-24 others(640): Show c.-24-2011_-24-2010insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGG GTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGAT GCATGGATGGATGGGTGGGTGTGTGAATGGATGGATGAGTGGGTGGATGG ATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGAT GGGTGGATGGATGCGTGGGTGGGTGGATGTATGGGTGGATGGATGCGTGG GTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGT GTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAG GTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGATGGATGGG TGGGTGGATGGATGGGTGGGTGGGTGGATGGGTGGGTGGATGGATGGGTG GGTGGGTGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8322284	A A	ATGGATGG others(616): Show ATGGATGGATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGAT GCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGG GTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGCGTGGGT GGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGG ATGGGTGGGTGTGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGAT GAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGG ATGCGTGGGTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGAT GGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGG ATGGATGAGTGGGTGGATGGATGGGTGGGTGGATGGGTAGGTGGGTGGAT GGATGGGTGGATGAGTGGATGGATGGATGGATAGATGGGTGGGTGGATGG ATGGATGAGTGGGTGGATGGATGGGTGGATGATGGATGGGTGGGTGGATG GATGGGTGGGTGGGTGGATGGGTGGGTGGATGGATGGGTGGGTGGGTGGA TGGGTGGATGGATGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp1 HG02615.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0029 a0001c0003t0003g0029	2	374	0.0053	623	c.-24 others(640): Show c.-24-2011_-24-2010insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGG GTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGAT GCATGGATGGATGGGTGGGTGTGTGAATGGATGGATGAGTGGGTGGATGG ATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGAT GGGTGGATGGATGCGTGGGTGGGTGGATGTATGGGTGGATGGATGCGTGG GTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGT GTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGGTGGATGGGTAG GTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGATGGATGGG TGGGTGGATGGATGGGTGGGTGGGTGGATGGGTGGGTGGATGGATGGGTG GGTGGGTGGATGGGTGGATGGATGGGTGGGTGGGTGGATGGATGG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8322288	A A	ATGGATGG others(616): Show ATGGATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGATGCAT GGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGGGTGG ATGGATGGGTGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGCGTGGGT GGGTGGATGGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGG ATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGAT GAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGG ATGCATGGGTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGAT GGATGGGTGGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGG ATGGATGAGTGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGAT GGATGGGTGGATGAGTGGATGGATGGATAGATGGGTGGGTGGATGGATGG ATGAGTGGGTGGAGGGATGGGTGGATGATGGATGGGTGGGTGGATGGATG GGTGGGTGGGTGGATGGGTGGGTGGGTGGATGGATGGGTGGGTGGGTGGA TGGGTGGATGGATGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02523.hp1 HG03017.hp2 others(1): Show HG02074.hp2 HG02523.hp1 HG03017.hp2 HG03490.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0249 a0001c0003t0002g0246 a0001c0003t0002g0247 others(1): Show a0001c0003t0001g0249 a0001c0003t0002g0246 a0001c0003t0002g0247 a0001c0003t0002g0248	4	348	0.0115	623	c.-24 others(640): Show c.-24-2011_-24-2010insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGGTGGGTGGGTGGGTGGATGGATGGGTGG GTGGGTGCGTGGGTGGGTGGATGGATGGATGGATGAGTGGGTGAGTGGAT GGATGCATGGATGGATGGGTGGGTGGGTGAATGGATGGATGAGTGGGTGG ATGGATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGAT GGATGGGTGGATGGATGCATGGGTGGGTGGATGTATGGGTGGATGGATGC GTGGGTGGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATAGAT GGGTGTGTGGATGGATGGATGAGTGGGTGGATGGATGGGTGGATGGATGG GTAGGTGGGTGGATGGATGGGTGGATGAGTGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGAGTGGGTGGAGGGATGGGTGGATGATGGATGGG TGGGTGGATGGATGGGTGGGTGGGTGGATGGGTGGGTGGGTGGATGGATG GGTGGGTGGGTGGATGGGTGGATGGATGGGTGGGTGGGTGGATGG	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GCGGGTGA others(616): Show GCGGGTGAAGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGT GAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGG TGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGG GAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGC GGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGA GGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTG AGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGA GCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGG GTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGG GGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGTGTGAG GGGCGCGCGGGTGAAGAGTGAGGGGAGCGTGGGTGAGGGGTGAGGGGCGC GCCGGTGAAGGGTGAGGGGAGCGTGGGTGAGGGGTGAGGCGTGAGTGATG CGCGAGTGAAGGGTGAGGGGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02818.hp2 HG02965.hp2 others(1): Show HG02572.hp2 HG02818.hp2 HG02965.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0043 others(1): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0043 a0001c0001t0044	a0001c0001t0003g0316 a0001c0001t0014g0315 a0001c0001t0043g0294 others(1): Show a0001c0001t0003g0316 a0001c0001t0014g0315 a0001c0001t0043g0294 a0001c0001t0044g0313	4	286	0.0140	623	c.-12 others(634): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCA CCCCTCACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACACTTC ACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGC GCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCC CTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACC CCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCAC CCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGC TCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCT CACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCC TCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCC GCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCGC CCCTCACCCCTCACCCGCGCGCCCCTCACCCTTCACCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1064		chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GCGGGTGA others(616): Show GCGGGTGAAGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGT GAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGG TGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGG GAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGC GGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGA GGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTG AGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGA GCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGG GTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGG GGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGTGTGAG GGGCGCGCGGGTGAAGAGTGAGGGGAGCGTGGGTGAGGGGTGAGGGGCGC GCCGGTGAAGGGTGAGGGGAGCGTGGGTGAGGGGTGAGGCGTGAGTGATG CGCGAGTGAAGGGTGAGGGGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG03579.hp2 HG02258.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0009 a0001c0001t0014g0009	2	284	0.0070	623	c.-12 others(634): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCA CCCCTCACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACACTTC ACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGC GCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCC CTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACC CCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCAC CCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGC TCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCT CACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCC TCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCC GCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCGC CCCTCACCCCTCACCCGCGCGCCCCTCACCCTTCACCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1064		chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GCGGGTGA others(616): Show GCGGGTGAAGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGT GAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGG TGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGG GAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGC GGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGA GGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTG AGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGA GCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGG GTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGG GGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGTGTGAG GGGCGCGCGGGTGAAGAGTGAGGGGAGCGTGGGTGAGGGGTGAGGGGCGC GCCGGTGAAGGGTGAGGGGAGCGTGGGTGAGGGGTGAGGCGTGAGTGATG CGCGAGTGAAGGGTGAGGGGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0329 a0001c0001t0012g0329	1	283	0.0035	623	c.-12 others(634): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCA CCCCTCACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACACTTC ACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGC GCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCC CTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACC CCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCAC CCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGC TCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCT CACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCC TCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCC GCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCGC CCCTCACCCCTCACCCGCGCGCCCCTCACCCTTCACCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1064		chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GCGGGTGA others(616): Show GCGGGTGAAGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGT GAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGG TGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGG GAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGC GGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGA GGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTG AGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGA GCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGG GTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGG GGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGTGTGAG GGGCGCGCGGGTGAAGAGTGAGGGGAGCGTGGGTGAGGGGTGAGGGGCGC GCCGGTGAAGGGTGAGGGGAGCGTGGGTGAGGGGTGAGGCGTGAGTGATG CGCGAGTGAAGGGTGAGGGGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0305 a0001c0001t0003g0305	1	283	0.0035	623	c.-12 others(634): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCA CCCCTCACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACACTTC ACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGC GCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCC CTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACC CCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCAC CCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGC TCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCT CACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCC TCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCC GCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCGC CCCTCACCCCTCACCCGCGCGCCCCTCACCCTTCACCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1064		chr18	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(616): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGAAGGGAGGGAGGGAGA GGGAGGCAAGGAGGGAGGAGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGG GAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGGGAGGGTGGGAGGG AGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGAGGTGG GAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGT GGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGG GTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGT GGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGAGGGAGAGGG AGGCAGGGAGACAGGGAGGCAGGGAGGAGGGAGAGGGAGGCAGGGAGGGA GGGAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGGCAGGGAGAGAGG GAGGGAGAGGGAGGCAGGGAGGGAGAGGGACGCAGGGGGAGAGGTAGGGA GGGAGAGAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	2	0.5000	623	c.227 others(642): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCCTCCCTGCCTCCCTGTCTCCCTGCCTCC CTCTCCCTCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCAC CCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCC TCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCAC CCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCC ACCTCCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCC CTCCCACCCTCCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCC TCCCTCCCACCCTCCCTCCCTCTCCCTCCTCCTCCCTCCTTGCCTCCCTC TCCCTCCCTCCCTTCCTGCCTCCCTCTCCCTCTCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMAD2_chr18_47803957_47935659	47850548	A A	AATATATA others(616): Show AATATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATGTATAATATATATTATATATTATATATATTATGTATAATATATAT TATATATTATATATATTATGTATAATATATATTATATATTATATATATAT TATATATATTATGTATAATATATATTATATATTATATATATATTATATAT ATTATGTATAATATATATTATATATTATATATATATTATATATATTATGT ATAATATATATTATATATTATATATATATTATATATATTATGTATAATAT ATATTATATATTATATATATATTATATATATTATGTATAATATATATTAT ATATTATATATATATTATATATATTATGTATAATATATATTATATATTAT ATATATATTATATATATTATGTATAATATATATTATATATTATATATATA TTATATATATTATGTATAATATATATTATATATTATATATATATTATATA TATTATGTATAATATATATTATATATTATATATATATTATATATATTATG TATAATATATATTATATATTATATATATATTATATATATTATGTATAATA TATATTATATATTATATATATATT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0205 a0001c0001t0021g0205	1	206	0.0049	623	c.784 others(638): Show c.784+725_784+726insAATATATATATAATATATAATATATATTAT ACATAATATATATAATATATATATAATATATAATATATATTATACATAAT ATATATAATATATATATAATATATAATATATATTATACATAATATATATA ATATATATATAATATATAATATATATTATACATAATATATATAATATATA TATAATATATAATATATATTATACATAATATATATAATATATATATAATA TATAATATATATTATACATAATATATATAATATATATATAATATATAATA TATATTATACATAATATATATAATATATATATAATATATAATATATATTA TACATAATATATATAATATATATATAATATATAATATATATTATACATAA TATATATAATATATATATAATATATAATATATATTATACATAATATATAT AATATATATATAATATATAATATATATTATACATAATATATATAATATAT ATATAATATATAATATATATTATACATAATATATATAATATATAATATAT ATTATACATAATATATATAATATATAATATATATTATACATAATATATAT AATATATATATAATATATAATATATATTATACATAATATATAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(616): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAAAAAACAAAGTGCTGGGATTACAGGCATGAGTCACTG TGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTG TTGCCAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0013 a0001c0008t0001g0013	1	177	0.0056	623	c.245 others(640): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACAAAGTGCTGGGATTACA GGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGA CAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(616): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAGGAAG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGG GAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0307 a0001c0001t0005g0307	1	3	0.3333	623	c.597 others(640): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCCCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTT CCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTC CCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
SUFU_chr10_102498972_102638535	102637474	A A	ATTATATA others(616): Show ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATATATTATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATAATATAA CTATATATTATATATAATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	228	0.0044	623	c.73 others(634): Show c.7319_*7320insTTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATAATATAACTATATATTATATATAATATATAG	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3940		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637474	A A	ATTATATA others(616): Show ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TATTATATATATTATATATTATATAACTATATATTATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATAATATAA CTATATATTATATATAATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0180 a0001c0001t0023g0180	1	228	0.0044	623	c.73 others(634): Show c.7319_*7320insTTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATATTATATATATTATATATTATATAACTATATATT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATAATATAACTATATATTATATATAATATATAG	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3940		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637474	A A	ATTATATA others(616): Show ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATAATATAA CTATATATTATATATAATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	228	0.0044	623	c.73 others(634): Show c.7319_*7320insTTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATAATATAACTATATATTATATATAATATATAG	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3940		chr10	TogoVar
TAFA5_chr22_48484553_48756932	48736401	C C	CCCAGAGT others(616): Show CCCAGAGTCCAGAGCCCATCCCCCCAGGAGGAATGAGAATCGCACTCCTA GAGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCCTAGAGTCCATCCC CCCAGGAGGAGTGAGAATCACACTCCTAGAGTCCAGAGTCCATCCCCCCA GGAGGAATGAGAATCGCACTCCCAGAGTCCAGAGCCCATCCCCCCAGGAG GAATGAGAATCACACTCCTAGAGTCCATCCCCCCCAGGAGGAATGAGAAT CACGCTCCCAGAGTCCAGAGTCCATCCCCCCCAGGAGGAATGAGAATCGC ACTCCCAGAGTCCAGAGCCCATCCCCCCAGGAGGAATGAGAATCACACTC CTAGAGTCCATCCCCCCCAGGAGGAATGAGAATCACGCTCCCAGAGTCCA GAGTCCATCCCCCAAGGAGGAATGAGAATCGCACTCCTGGAGTCCAGAGT CCATCCCCCCAGGAGGAATGAGAATCACACTCCTGGAGTCCATCCCCCCG AGGAGGAATGAGAATCACACTCCCAGAGTCCACAGAGTCTATCCCCCCAG GAGGAATGAGAATCGCACTCCTAGAGTCCAGAGTCCATCCCCCCCAGGAG GAATGAGAATCACACTCCTGGAGT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0141 a0001c0001t0031g0141	1	256	0.0039	623	c.391 others(642): Show c.391-13437_391-13436insCAGAGTCCAGAGCCCATCCCCCCAGG AGGAATGAGAATCGCACTCCTAGAGTCCATCCCCCCAGGAGGAATGAGAA TCGCACTCCTAGAGTCCATCCCCCCAGGAGGAGTGAGAATCACACTCCTA GAGTCCAGAGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCCCAGAGT CCAGAGCCCATCCCCCCAGGAGGAATGAGAATCACACTCCTAGAGTCCAT CCCCCCCAGGAGGAATGAGAATCACGCTCCCAGAGTCCAGAGTCCATCCC CCCCAGGAGGAATGAGAATCGCACTCCCAGAGTCCAGAGCCCATCCCCCC AGGAGGAATGAGAATCACACTCCTAGAGTCCATCCCCCCCAGGAGGAATG AGAATCACGCTCCCAGAGTCCAGAGTCCATCCCCCAAGGAGGAATGAGAA TCGCACTCCTGGAGTCCAGAGTCCATCCCCCCAGGAGGAATGAGAATCAC ACTCCTGGAGTCCATCCCCCCGAGGAGGAATGAGAATCACACTCCCAGAG TCCACAGAGTCTATCCCCCCAGGAGGAATGAGAATCGCACTCCTAGAGTC CAGAGTCCATCCCCCCCAGGAGGAATGAGAATCACACTCCTGGAGTC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF25_chr16_89868592_89916379	89908674	T T	TCCTCCCA others(616): Show TCCTCCCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCACCTCCCT CCTCCCAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACCTTCCAG CTCCCAGCTCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCACCTCCCTCC TCCCACCTCCCACCTCCCAGCTCCCACCTCCCTCCTCCCACCTCCCACCT CCCTCCTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGCCACCTC CCAGCTTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCC CAGCTCCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCAGCTCCC TCCTCCCACCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCG CCTCCCACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTC CTCCCAGTTCCCACCTCCCACCTCCCAGCTCCCACCTCCCAACTCCCTCC TCCCACCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACCT CCCACCTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTC CCACCTCCTTCCTCGCAGTTCCCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02293.hp2 HG02572.hp1 others(2): Show HG00733.hp2 HG02293.hp2 HG02572.hp1 HG02976.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0086 a0001c0001t0001g0095 others(2): Show a0001c0001t0001g0063 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0104 a0001c0001t0001g0116	5	241	0.0207	623	c.179 others(642): Show c.1799+1359_1799+1360insCCTCCCAGTTCCCGCCTCCCACCTCT CACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCCCACCTCCC AGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGCTCCCGGCTCCTG GCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCTCCCACCTCCCTC CTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTCCCATCTCCCAGC TCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCCCAGTTCCCACCT CCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCTAGTTCCCACCTC CCAGCTCCCAGCTCCCTCCTCCCACCTCCCACCTCCCTCCTTTCACCTCC CACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCACCTTCC AGCTCCCGCCTCCCTCCTCCCAGTTCCCACCTCCCACCTCCCAGCTCCCA CCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCTCCCAGTTTCCAC CTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTCCCAACTCTCTCC TCCCACCTTCCAGTTCCCACCTCCTTCCTCGCAGTTCCCACCTCCCA	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TUBGCP3_chr13_112480011_112593153	112539828	G G	GGATGTCA others(616): Show GGATGTCAATGCAGTAGCCTATGAGCATTCAGATGGTCTTGGGAAAGGAT ACCTGGGAATGATGACATCAATGTAGTAGCCTATGAGCCTTCAGGTGGTC TTGGGAAAGGACACCTGGGAATGAGGACGTCAATGTAGTAGCCCTATGAG CATTCAGATGATCTTGGGAAAGGACACCTGGGAATGAGGATGTCAATATA GTAGCCTATGAGCATTCAGGTGGTCTTGGGAAAGGATACCTGGGAGTGAT GACGTCAATGTAGTAGCCTATGAGCATTCAGGTGGTCTTGGGAAAGGATA CCTGGGAGTGATGACGTCAATGTAGTAGCCTATGAGCATTCAGGTGGTCT TGGGAAAGGACACCTGGGAATGAGGACGTCAATGTAGTAGCCCTATGAGC ATTCAGGTGGTCTTGGGAAAGGATACCTGGGAGTGATGACGTCAATGTAG TAGCCTATGAGCATTCAGGTGGTCTTGGGAAAGGATACCTGGGAATGAGG ACGTCAATGTAGTAGCCTATGAGCATTCAGGTGGTCTTGGGAAAGGACAC CTGGGAATGAGGACGTCAATATAGTAGCCCTATGAGCATTCAGGTGGTCT TGGGAAAGGATACCTGGGAGTGAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG00642.hp1 others(41): Show HG00438.hp1 HG00609.hp2 HG00642.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp2 HG01515.hp2 HG01891.hp2 HG01928.hp2 HG02109.hp1 HG02129.hp1 HG02165.hp2 HG02258.hp2 HG02451.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG04199.hp2 NA18522.hp2 NA18906.hp1 NA18942.hp1 NA19001.hp1 NA19091.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0012 a0002c0006t0001 a0001c0001t0001 a0001c0001t0012 a0002c0006t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0023 others(39): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0160 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0012g0273 a0002c0006t0001g0278 a0002c0006t0001g0291	44	310	0.1419	623	c.133 others(642): Show c.1335+5870_1335+5871insATCACTCCCAGGTATCCTTTCCCAAG ACCACCTGAATGCTCATAGGGCTACTATATTGACGTCCTCATTCCCAGGT GTCCTTTCCCAAGACCACCTGAATGCTCATAGGCTACTACATTGACGTCC TCATTCCCAGGTATCCTTTCCCAAGACCACCTGAATGCTCATAGGCTACT ACATTGACGTCATCACTCCCAGGTATCCTTTCCCAAGACCACCTGAATGC TCATAGGGCTACTACATTGACGTCCTCATTCCCAGGTGTCCTTTCCCAAG ACCACCTGAATGCTCATAGGCTACTACATTGACGTCATCACTCCCAGGTA TCCTTTCCCAAGACCACCTGAATGCTCATAGGCTACTACATTGACGTCAT CACTCCCAGGTATCCTTTCCCAAGACCACCTGAATGCTCATAGGCTACTA TATTGACATCCTCATTCCCAGGTGTCCTTTCCCAAGATCATCTGAATGCT CATAGGGCTACTACATTGACGTCCTCATTCCCAGGTGTCCTTTCCCAAGA CCACCTGAAGGCTCATAGGCTACTACATTGATGTCATCATTCCCAGGTAT CCTTTCCCAAGACCATCTGAATGCTCATAGGCTACTGCATTGACATC	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	11/21			chr13	TogoVar
VCX2_chrX_8164944_8176267	8169301	T T	TTCCTCCC others(616): Show TTCCTCCCTCCCTCCCCACACACCACCTCTCCCCCCCCCCCCACACACCA CCCCTCCAACCCCCCCCCCCCCACACACCACCCTTCCTCCCTCCCTCCCC ACACACCACCTCTCCTCCCCCCCCCCACCACCTCTTCCTCCCTCCCTCCC CCCCACACACCACCTCTCCCCCCCCCCCCACACACCACCTCTCCTCCCTC CCTCCCCACACACCCTCCCCTCCCTCCCTCCCCCACACCACCTCTTCCTC ACTCCCTCCCTCCCCTCACACCACCTCTTCCTCCCTCCCTCCCTCCCACA CACCTCCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCC TCCCTCCCACCCCCCACACACCACCTTCCTCCCTCCCTCCCCACACACCA CCTCTTCCTCCCTCCCTCCCCCCACACACCACCTCTCCTCCCTCCCTCCC CCCACACACCACCTCTTCCTCCCTCCCTCCCCCCACACACCCCTCTCCTC CCTCCCCCCCACACACCACTCCTCCCTCCCTCCCCCCACACACCACCTCC CTCCCTCCCCCCACACACCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0007 a0005c0005t0002g0007	1	114	0.0088	623	c.73 others(632): Show c.730_*731insGAGGTGGTGTGTGGGGGGAGGGAGGGAGGTGGTGTG TGGGGGGAGGGAGGGAGGAGTGGTGTGTGGGGGGGAGGGAGGAGAGGGGT GTGTGGGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGGGAGGGAGGGA GGAGAGGTGGTGTGTGGGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGGTGGTGTGTGGGGGGTGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGTGAGGAAGAGGTG GTGTGGGGGAGGGAGGGAGGGGAGGGTGTGTGGGGAGGGAGGGAGGAGAG GTGGTGTGTGGGGGGGGGGGGAGAGGTGGTGTGTGGGGGGGAGGGAGGGA GGAAGAGGTGGTGGGGGGGGGGAGGAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGGGTGGTGTGTGGGGGGGGGGGGGTTGGAGGGGTGGTGTGTGGGG GGGGGGGGAGAGGTGGTGTGTGGGGAGGGAGGGAGGA	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		642		chrX	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(616): Show AATATATATAATATATATAATATATATAATATAATATAATGCAATATATA ATAATTATATAATATAATATATAATATATAATATATATTATATATAATAT ATAATATATAATATATATTATATATAATAATATAATATATAATATACATT ATATAATAATATAATGTATATTATATAATAATAATGTAATATATAACATA TATTATATAATAATAATATAAGATATATTATATAATTAATATAATATATA ATATATATTATATAATAATAATATAAGATATATTATATAATTAATATAAT ATATAATATATATTATATAATTAATATAATATATAATATATATTATATAA TAATAATATAATATATAATATATATTATATAATAATAATATAATATATAT AATAATTATATAATATAGTATATAATATATATTATATAATAATAATATAA TATATATAATAATTATATAATATTAGAATATATATTATACAATAATAATA TAATATATATTATACAATAATAATATAATATATATATAATTATATAATAT AATATATATAATAATAATATAATATAATATATAATATATATTATATAGTA ATAATATAATATAATATATAATAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18960.hp1 NA18998.hp1 others(3): Show NA18957.hp2 NA18960.hp1 NA18998.hp1 NA19000.hp1 NA19007.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0096 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0096	6	17	0.3529	623	c.55+ others(638): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTACTAT ATAATATATATTATATATTATATTATATTATTATTATATATATTATATTA TATAATTATATATATATTATATTATTATTGTATAATATATATTATATTAT TATTGTATAATATATATTCTAATATTATATAATTATTATATATATTATAT TATTATTATATAATATATATTATATACTATATTATATAATTATTATATAT ATTATATTATTATTATATAATATATATTATATATTATATTATTATTATAT AATATATATTATATATTATATTAATTATATAATATATATTATATATTATA TTAATTATATAATATATCTTATATTATTATTATATAATATATATTATATA TTATATTAATTATATAATATATCTTATATTATTATTATATAATATATGTT ATATATTACATTATTATTATATAATATACATTATATTATTATATAATGTA TATTATATATTATATTATTATATATAATATATATTATATATTATATATTA TATATAATATATATTATATATTATATATTATATTATATAATTATTATATA TTGCATTATATTATATTATATATATTATATATATTATATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(616): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTTCC CTTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCT TTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02630.hp1 NA20300.hp2 HG01496.hp2 HG02630.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	102	0.0294	623	c.-10 others(640): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTTCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCC CTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTT TCCCCCCTTCCCCCCTTTTCCCTTTCCCCCCTTCCCCCTTCCCCCTTCCC CCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(616): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCGCCTTTTCC CTTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCT TTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	100	0.0100	623	c.-10 others(640): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTTCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCC CTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTT TCCCCCCTTCCCGCCTTTTCCCTTTCCCCCCTTCCCCCTTCCCCCTTCCC CCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(616): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTT CCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCC CCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTTCC CTTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCT TTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	100	0.0100	623	c.-10 others(640): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTTCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCTTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCC TTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTT TCCCCCCTTCCCCCCTTTTCCCTTTCCCCCCTTCCCCCTTCCCCCTTCCC CCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATATATAT others(616): Show ATATATATCATATATGTGATATATATCATATATATCAAATATATGATATA TATCATATATGTGATATATATCACATATGTGATATATATCATATCACATA TCATATGACATATCATATCACATATCACATATCACATATCACATATCACA TATCATATGATATATATCACATGTGATATATAGCATATGTGATATATATC ATATATATCACATGTGATATATAGCATATGTGATATATATCATATATATC ACATGTGATATATAGCATATGTGATATATATCATATATATCACATGTGAT ATATAGCATATGTGATATATATCATATATATCACATGTGATATATAGCAT ATGTGATATATATCATATATATCACATATGCTATATAGCATACGTGATAT ATATCATATATATCATATATGATGTATAGCATGATATATATGCTATATAT CACATGTGATATATAGCATATATATCACATGTGATATATAGCATATATAT CACATGTGATATATAGCATATGTGATATATATGATATATGTGATATATAT CATATGTGATATATATGATATATATCACATATATATGATATATATCACAT ATATATCATATATATCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	243	0.0041	623	c.-34 others(634): Show c.-3475_-3474insTATATATCATATATGTGATATATATCATATATAT CAAATATATGATATATATCATATATGTGATATATATCACATATGTGATAT ATATCATATCACATATCATATGACATATCATATCACATATCACATATCAC ATATCACATATCACATATCATATGATATATATCACATGTGATATATAGCA TATGTGATATATATCATATATATCACATGTGATATATAGCATATGTGATA TATATCATATATATCACATGTGATATATAGCATATGTGATATATATCATA TATATCACATGTGATATATAGCATATGTGATATATATCATATATATCACA TGTGATATATAGCATATGTGATATATATCATATATATCACATATGCTATA TAGCATACGTGATATATATCATATATATCATATATGATGTATAGCATGAT ATATATGCTATATATCACATGTGATATATAGCATATATATCACATGTGAT ATATAGCATATATATCACATGTGATATATAGCATATGTGATATATATGAT ATATGTGATATATATCATATGTGATATATATGATATATATCACATATATA TGATATATATCACATATATATCATATATATCATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
ZNF469_chr16_88377959_88445753	88401469	A A	AGATGGAT others(616): Show AGATGGATGGATGGATGGATGCTGGGGTGGGTGGATGGGTGAGTGGATGG ATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GAGTGGATGGATGGTGGATGGATGGGTGGATGGATGGATGGTGGATAGAT GGATACATGGGTGGATGAATAGGTAGATGGATGGATAGATGGGCGAGTGG ATGGATGGATGGATGGATGCTGGGGTGGGTGGATGGGTGAGTGAATGGAT GGATGGATGCATGGGTGGATGGATGGATGCATGGGTGGATGGATGGATAC ATGGGTGGATGAATAGGTAGATGGATGGATAGATGGGTGAGTGGATGGGT GGATGGATGGATGGATGGATACATGGGTGGATGGGTAGATGGATGGGTGA GTGCATGGATGGATGGATATATGGGTAGATGGATGGGTGGATGGATGGGT GATTGGATGGATGGATGGGTAGATGGATGGATGCATGGGTGGATGGATAG TGGATGGATGGATGGTAGATGCATGCATGGGTGGATGGATGGTGGCTGGA TGGATACAAGGGTGGATGAATAGGTAGATGGATAGATGGGTGAGTGGGTG AGTGGATGGATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0129 a0129	a0129c0075 a0129c0075	a0129c0075t0027 a0129c0075t0027	a0129c0075t0027g0029 a0129c0075t0027g0029	1	171	0.0058	623	c.-19 others(644): Show c.-192+18235_-192+18236insCTGGGGTGGGTGGATGGGTGAGTG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGAGTGGATGGATGGTGGATGGATGGGTGGATGGATGGATGGTGGA TAGATGGATACATGGGTGGATGAATAGGTAGATGGATGGATAGATGGGCG AGTGGATGGATGGATGGATGGATGCTGGGGTGGGTGGATGGGTGAGTGAA TGGATGGATGGATGCATGGGTGGATGGATGGATGCATGGGTGGATGGATG GATACATGGGTGGATGAATAGGTAGATGGATGGATAGATGGGTGAGTGGA TGGGTGGATGGATGGATGGATGGATACATGGGTGGATGGGTAGATGGATG GGTGAGTGCATGGATGGATGGATATATGGGTAGATGGATGGGTGGATGGA TGGGTGATTGGATGGATGGATGGGTAGATGGATGGATGCATGGGTGGATG GATAGTGGATGGATGGATGGTAGATGCATGCATGGGTGGATGGATGGTGG CTGGATGGATACAAGGGTGGATGAATAGGTAGATGGATAGATGGGTGAGT GGGTGAGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG	ZNF469	ENSG00000225614.4	transcript	ENST00000565624.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(616): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACATATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACATGTATATATACG TATATATACATGTATATATACGTACGTATATATACATGTATATATACGTA CGTATATATATACGTATATATACACATATATACATATATACGTATATATA TATACGTATATATACATATATACGTATATATATACGTATATATACATATA TACGTATATATATACGTATATATACATATATACGTATATATATATACGTA TATATACATATATACATGTATATATATATACGTATATATACATATATACA TGTATATATATATACGTATATACACATATATATACATGTATATATATGTG TATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	183	0.0055	623	c.-42 others(634): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACATATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACATGTATATATACGTATATATACATGTATATATACGTACGTATATATAC ATGTATATATACGTACGTATATATATACGTATATATACACATATATACAT ATATACGTATATATATATACGTATATATACATATATACGTATATATATAC GTATATATACATATATACGTATATATATACGTATATATACATATATACGT ATATATATATACGTATATATACATATATACATGTATATATATATACGTAT ATATACATATATACATGTATATATATATACGTATATACACATATATATAC ATGTATATATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(616): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACATATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACATGTATATATATA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATATACGTATATATACACATATATACATATATACGTATATA TATACGTATATATACATATATACGTATATATATACGTATATATACATATA TACGTATATATATACACATATATACATATATACGTATATATATATACGTA TATATACATATATACATGTATATATATATACGTATATATACATATATACA TGTATATATATATACGTATATACACATATATATACATGTATATATATGTG TATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	183	0.0055	623	c.-42 others(634): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACATATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACATGTATATATATACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATATACGTATATATACACATATATAC ATATATACGTATATATATACGTATATATACATATATACGTATATATATAC GTATATATACATATATACGTATATATATACACATATATACATATATACGT ATATATATATACGTATATATACATATATACATGTATATATATATACGTAT ATATACATATATACATGTATATATATATACGTATATACACATATATATAC ATGTATATATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(616): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACATATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACATGTATATATATA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATATACGTATATATACACATATATACATATATACGTATATA TATATACGTATATATACATATATACGTATATATACGTATATATACATATA TACGTATATATATACGTATATATACATATATACGTATATATATATACGTA TATATACATATATACATGTATATATATATACGTATATATACATATATACA TGTATATATATATACGTATATACACATATATATACATGTATATATATGTG TATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	183	0.0055	623	c.-42 others(634): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACATATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACATGTATATATATACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATATACGTATATATACACATATATAC ATATATACGTATATATATATACGTATATATACATATATACGTATATATAC GTATATATACATATATACGTATATATATACGTATATATACATATATACGT ATATATATATACGTATATATACATATATACATGTATATATATATACGTAT ATATACATATATACATGTATATATATATACGTATATACACATATATATAC ATGTATATATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(616): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACATATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACATGTATATATATA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATATACGTATATATACACATATATACATATATACGTATATA TATATACGTATATATACATATATACGTATATATATACGTATATATACATA TATACGTATATATATACGTATATATACATATATACGTATATATATACGTA TATATACATATATACATGTATATATATATACGTATATATACATATATACA TGTATATATATATACGTATATACACATATATATACATGTATATATATGTG TATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01433.hp2 HG01258.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0161 a0001c0001t0001g0162	2	184	0.0109	623	c.-42 others(634): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACATATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACATGTATATATATACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATATACGTATATATACACATATATAC ATATATACGTATATATATATACGTATATATACATATATACGTATATATAT ACGTATATATACATATATACGTATATATATACGTATATATACATATATAC GTATATATATACGTATATATACATATATACATGTATATATATATACGTAT ATATACATATATACATGTATATATATATACGTATATACACATATATATAC ATGTATATATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(616): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACATATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACATGTATATATATA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATATACGTATATATACACATATATACATATATACGTATATA TATATACGTATATATACATATATACGTATATATATACGTATATATACATA TATACGTATATATATACGTATATATACATATATACGTATATATATATACG TATATATACATATATACATGTATATATATATACGTATATATACATATATA CATGTATATATATACGTATATACACATATATATACATGTATATATATGTG TATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 NA18939.hp1 NA18951.hp1 others(1): Show HG02074.hp2 NA18939.hp1 NA18951.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0042 a0001c0001t0001g0170 a0001c0001t0001g0009 a0001c0001t0001g0042 a0001c0001t0001g0170	4	186	0.0215	623	c.-42 others(634): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACATATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACATGTATATATATACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATATACGTATATATACACATATATAC ATATATACGTATATATATATACGTATATATACATATATACGTATATATAT ACGTATATATACATATATACGTATATATATACGTATATATACATATATAC GTATATATATATACGTATATATACATATATACATGTATATATATATACGT ATATATACATATATACATGTATATATATACGTATATACACATATATATAC ATGTATATATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar

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