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
TTLL4_chr2_218705835_218760416	218711870	C C	CAAATCAC others(309): Show CAAATCACCTATTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01261.hp1 HG04204.hp2 HG01256.hp2 HG01261.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0142 a0001c0001t0007g0018 a0001c0001t0001g0142 a0001c0001t0007g0018	3	262	0.0115	316	c.-17 others(333): Show c.-178+849_-178+850insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTAAATCACCTATTCTTT	TTLL4	ENSG00000135912.11	transcript	ENST00000392102.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
TUBB3_chr16_89918342_89941097	89927573	T T	TCCATTTT others(309): Show TCCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	398	0.0025	316	c.57+ others(331): Show c.57+4126_57+4127insTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCATGAGCCACCGCGCCCGGCCCATTTTTTTT	TUBB3	ENSG00000258947.8	transcript	ENST00000315491.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
TULP4_chr6_158307465_158516828	158331720	C C	CGTATATA others(309): Show CGTATATATACGTGTATATATACACGTATATATATATATATACGTGTATA TATACACGTATATATATATATATACGTGTATATATACACGTATATATATA TATATATACGTGTATATATACACGTGTATATATATATATACGTGTATATA TACACGTATATATATATATATATACGTGTATATATACACGTATATATATA TATATATACGTGTATATATACACGTATATATATATATATACGTGTATATA TACACGTATATATATATATATACGTGTATATATACACGTATATATATATA TATATATACGTGTATAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	268	0.0037	316	c.252 others(335): Show c.252+17452_252+17453insGTATATATACGTGTATATATACACGT ATATATATATATATACGTGTATATATACACGTATATATATATATATACGT GTATATATACACGTATATATATATATATATACGTGTATATATACACGTGT ATATATATATATACGTGTATATATACACGTATATATATATATATATACGT GTATATATACACGTATATATATATATATATACGTGTATATATACACGTAT ATATATATATATACGTGTATATATACACGTATATATATATATATACGTGT ATATATACACGTATATATATATATATATATACGTGTATAT	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13			chr6	TogoVar
TUSC3_chr8_15535263_15771638	15541827	G G	GAAGAAAA others(309): Show GAAGAAAAAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTG CGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01074.hp1 HG01074.hp2 others(18): Show HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01255.hp2 HG01261.hp1 HG01515.hp1 HG01516.hp2 HG01952.hp1 HG01975.hp2 HG02148.hp1 HG02155.hp1 HG03704.hp2 NA18939.hp1 NA18952.hp2 NA18989.hp1 NA19004.hp1 NA19010.hp2 NA19063.hp2 NA19086.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0002g0194 a0001c0001t0002g0210 a0001c0001t0002g0212 others(18): Show a0001c0001t0002g0194 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0005g0191 a0001c0001t0005g0193 a0001c0001t0005g0195 a0001c0001t0005g0199 a0001c0001t0005g0209 a0001c0001t0005g0211 a0001c0001t0005g0214 a0001c0001t0005g0215 a0001c0001t0006g0192 a0001c0001t0006g0196 a0001c0001t0006g0197 a0001c0001t0006g0198 a0001c0001t0006g0207 a0001c0001t0006g0208 a0001c0001t0006g0361 a0001c0001t0006g0363	21	372	0.0565	316	c.138 others(333): Show c.138+1271_138+1272insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGTAG	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TUSC3_chr8_15535263_15771638	15541827	G G	GAAGAAAA others(309): Show GAAGAAAAAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGCTCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTG CGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0200 a0001c0001t0005g0200	1	372	0.0027	316	c.138 others(333): Show c.138+1271_138+1272insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGCTCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGTAG	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
UBE2S_chr19_55394745_55412788	55404015	T T	TAAAAAAA others(309): Show TAAAAAAAAGGGAGAAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	360	0.0028	316	c.342 others(331): Show c.342+272_342+273insTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTCTTCTCCCTTTTTTTT	UBE2S	ENSG00000108106.14	transcript	ENST00000264552.14	protein_coding	3/3			chr19	TogoVar
UBE3B_chr12_109472634_109541702	109492356	T T	TAGAAAAC others(309): Show TAGAAAACTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01346.hp2 HG01358.hp1 others(2): Show HG00140.hp1 HG01346.hp2 HG01358.hp1 HG02683.hp1 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0011 a0001c0013t0011 a0001c0002t0011 a0001c0013t0011	a0001c0002t0011g0017 a0001c0002t0011g0158 a0001c0013t0011g0159 a0001c0002t0011g0017 a0001c0002t0011g0158 a0001c0013t0011g0159	5	328	0.0152	316	c.713 others(333): Show c.713+1239_713+1240insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAAGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAAACTTC	UBE3B	ENSG00000151148.14	transcript	ENST00000342494.8	protein_coding	9/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UGGT1_chr2_128086200_128200677	128157441	G G	GGAGTCCT others(309): Show GGAGTCCTGCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCAGCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0063 a0001c0004t0063	a0001c0004t0063g0157 a0001c0004t0063g0157	1	332	0.0030	316	c.235 others(333): Show c.2355+110_2355+111insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCAGCCGAGTCCTGCTTTCTT	UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding	22/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGGT1_chr2_128086200_128200677	128157441	G G	GGAGTCCT others(309): Show GGAGTCCTGCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0048 a0009c0022t0048	a0009c0022t0048g0135 a0009c0022t0048g0135	1	332	0.0030	316	c.235 others(333): Show c.2355+110_2355+111insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGAGTCCTGCTTTCTT	UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding	22/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
ULK1_chr12_131889622_131928150	131918734	T T	TGTCGGGT others(309): Show TGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTGTAGGGTGTGTGGGGTG TCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGT GTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGTAGGGTATGGGG TGTCGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTG TCGGGTGTGGGGTGTCGAGTGTGGGGTGTAGTGTGGGGTGTCAGGTGTGT GGGGTGTCGGGTTGGGGTGTCAGGTGTGTGGGGTGTAGGGTGTGGGGTGT AGGGTGTGTGGTGTAGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0248 a0001c0003t0002g0248	1	344	0.0029	316	c.251 others(331): Show c.2511+55_2511+56insCGGGTGTGTGGGGTATAGGGTGTGTGGGGT GTAGGGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAG AGTGTGGGGTGTAGTGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTG GGGTGTAGGGTATGGGGTGTCGGGTGTGTGGGGTGTCGGGTGTGTGGGGT ATAGGGTGTGTGGGGTGTCGGGTGTGGGGTGTCGAGTGTGGGGTGTAGTG TGGGGTGTCAGGTGTGTGGGGTGTCGGGTTGGGGTGTCAGGTGTGTGGGG TGTAGGGTGTGGGGTGTAGGGTGTGTGGTGTAGGGT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK4_chr3_41241599_41967103	41469735	T T	TAAGAAAG others(309): Show TAAGAAAGCTCCAACAATAGGCCGGGCGCAGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAA ATTAGCCGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03486.hp1 HG01891.hp1 HG03486.hp1	a0003 a0016 a0003 a0016	a0003c0016 a0016c0015 a0003c0016 a0016c0015	a0003c0016t0001 a0016c0015t0001 a0003c0016t0001 a0016c0015t0001	a0003c0016t0001g0057 a0016c0015t0001g0005 a0003c0016t0001g0057 a0016c0015t0001g0005	2	72	0.0278	316	c.322 others(335): Show c.3227-6483_3227-6482insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCTACCATGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACTGCGCCCGGCCTATTGTTGGAGCTTTCTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7718904	T T	TAAAGCTT others(309): Show TAAAGCTTCCCAAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCGGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp2 NA18522.hp1 others(1): Show HG01891.hp2 HG02717.hp2 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0015 a0001c0001t0016 a0001c0001t0032 others(1): Show a0001c0001t0015 a0001c0001t0016 a0001c0001t0032 a0001c0004t0041	a0001c0001t0015g0111 a0001c0001t0016g0148 a0001c0001t0032g0113 others(1): Show a0001c0001t0015g0111 a0001c0001t0016g0148 a0001c0001t0032g0113 a0001c0004t0041g0210	4	250	0.0160	316	c.82+ others(333): Show c.82+45466_82+45467insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCGGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAGCTTCCCAAGTG	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC13C_chr15_53973441_54633605	54156777	C C	CAAAACTA others(309): Show CAAAACTAGACATATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGT AGCCGGGCGTGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGTGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG00738.hp1 others(29): Show HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01123.hp1 HG01169.hp2 HG01192.hp1 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG02055.hp1 HG02129.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03209.hp2 HG03540.hp2 HG03654.hp2 HG04199.hp2 NA18952.hp1 NA19064.hp2 NA20752.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0011	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0020 a0001c0021 a0001c0032 a0002c0016 a0008c0023 a0011c0024	a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 others(22): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 a0001c0001t0016 a0001c0001t0045 a0001c0001t0056 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0013 a0001c0002t0023 a0001c0002t0024 a0001c0002t0048 a0001c0002t0060 a0001c0003t0004 a0001c0003t0009 a0001c0006t0027 a0001c0020t0001 a0001c0021t0013 a0001c0032t0004 a0002c0016t0004 a0008c0023t0043 a0011c0024t0028	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0035 others(29): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0006g0122 a0001c0001t0015g0070 a0001c0001t0016g0115 a0001c0001t0045g0130 a0001c0001t0056g0015 a0001c0002t0001g0018 a0001c0002t0002g0063 a0001c0002t0005g0126 a0001c0002t0006g0112 a0001c0002t0006g0127 a0001c0002t0009g0133 a0001c0002t0013g0014 a0001c0002t0013g0153 a0001c0002t0023g0098 a0001c0002t0024g0116 a0001c0002t0048g0111 a0001c0002t0060g0146 a0001c0003t0004g0011 a0001c0003t0009g0110 a0001c0006t0027g0052 a0001c0020t0001g0043 a0001c0021t0013g0038 a0001c0021t0013g0039 a0001c0032t0004g0057 a0002c0016t0004g0053 a0002c0016t0004g0055 a0008c0023t0043g0129 a0011c0024t0028g0017	32	158	0.2025	316	c.307 others(337): Show c.3071+13110_3071+13111insGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAGTAGCCGGGCGTGGTGGCGCGCGCCTGTAGTCCCAGCTACACGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGTCGTGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAACTAGACATATTTG	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54156792	T T	TTGGCCGG others(309): Show TTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTAGCCGGGCGTGGTGG CGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGTGATCGCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAACTAGACATATG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0046 a0001c0029t0046	a0001c0029t0046g0143 a0001c0029t0046g0143	1	158	0.0063	316	c.307 others(337): Show c.3071+13110_3071+13111insGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAGTAGCCGGGCGTGGTGGCGCGCGCCTGTAGTCCCAGCTACACGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGTCGTGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAACTAGACATATGTG	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54508182	T T	TGAAAGTA others(309): Show TGAAAGTATATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02976.hp2 HG01169.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0002 a0001c0001t0015 a0001c0002t0002	a0001c0001t0015g0070 a0001c0002t0002g0063 a0001c0001t0015g0070 a0001c0002t0002g0063	2	158	0.0127	316	c.537 others(334): Show c.5379+999_5379+1000insGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTATATT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	23/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(309): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTT ATATATTATATTTATGTAATATATAATATTTATATATATTTATGTAATAT ATAATATTTATATATATTTATGTAATATATAATATTTATATATTATATTT ATGTAATATATAATATT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19030.hp1 HG02280.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0057 a0001c0003t0013g0078 a0001c0003t0013g0057 a0001c0003t0013g0078	2	204	0.0098	316	c.213 others(335): Show c.2136+5973_2136+5974insAATATTATATATTACATAAATATAAT ATATAAATATTATATATTACATAAATATATATAAATATTATATATTACAT AAATATATATAAATATTATATATTACATAAATATAATATATAAATATTAT ATATTACATAAATATAATATATAAATATTATATATTACATAAATATAATA TATAAATATTATATATTACATAAATATAATATATAAATATTATATATTAC ATAAATATAATATATAATATATATTATATATTACATAAATATAATATATA ATATATATTATATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95446786	T T	TAAAAAAA others(309): Show TAAAAAAATCCGTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0032 a0001c0005t0032	a0001c0005t0032g0095 a0001c0005t0032g0095	1	204	0.0049	316	c.124 others(337): Show c.124+101947_124+101948insTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCGAACGGATTTTTTT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95537616	T T	TAGAAAAT others(309): Show TAGAAAATATTCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0043 a0001c0005t0001g0043	1	204	0.0049	316	c.124 others(335): Show c.124+11117_124+11118insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTTGAATATTTTCT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UPF3A_chr13_114276601_114310817	114300973	G G	GCTAATTT others(309): Show GCTAATTTTTGTATTTTCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCTGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCTGGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01496.hp2 others(10): Show HG01069.hp1 HG01071.hp1 HG01496.hp2 HG02109.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02922.hp2 HG02970.hp2 HG03516.hp2 NA18906.hp1 NA19043.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0005c0006 a0004c0004 a0005c0006	a0004c0004t0002 a0004c0004t0003 a0005c0006t0006 a0004c0004t0002 a0004c0004t0003 a0005c0006t0006	a0004c0004t0002g0002 a0004c0004t0002g0409 a0004c0004t0002g0410 others(7): Show a0004c0004t0002g0002 a0004c0004t0002g0409 a0004c0004t0002g0410 a0004c0004t0003g0113 a0004c0004t0003g0186 a0004c0004t0003g0187 a0004c0004t0003g0188 a0004c0004t0003g0189 a0005c0006t0006g0225 a0005c0006t0006g0226	13	450	0.0289	316	c.100 others(333): Show c.1008-741_1008-740insTTTTTTTTTTTTTTTTTTTGAGACAGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCTGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCTGGCCTAATTTTTGTATTTTC	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
USH2A_chr1_215617891_216428448	216265176	T T	TAAAACAG others(309): Show TAAAACAGGTGCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGC CGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCTACACAGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0065 a0065	a0065c0006 a0065c0006	a0065c0006t0014 a0065c0006t0014	a0065c0006t0014g0007 a0065c0006t0014g0007	1	74	0.0135	316	c.197 others(337): Show c.1972-14079_1972-14078insTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GACTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCTGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTTGCACCTGTTTT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	11/71			chr1	TogoVar
UTS2B_chr3_191262168_191335526	191281661	T T	TTGTACTC others(309): Show TTGTACTCTATTTTCTTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19009.hp1 NA19067.hp2 others(3): Show NA18951.hp2 NA19009.hp1 NA19067.hp2 NA19080.hp2 NA19081.hp1 NA19086.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0005 a0001c0001t0041 a0001c0001t0058 others(1): Show a0001c0001t0005 a0001c0001t0041 a0001c0001t0058 a0006c0006t0005	a0001c0001t0005g0258 a0001c0001t0041g0079 a0001c0001t0041g0107 others(3): Show a0001c0001t0005g0258 a0001c0001t0041g0079 a0001c0001t0041g0107 a0001c0001t0058g0306 a0006c0006t0005g0259 a0006c0006t0005g0288	6	402	0.0149	316	c.103 others(331): Show c.103+425_103+426insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAGAAAAGAAAATAGAGTACA	UTS2B	ENSG00000188958.10	transcript	ENST00000340524.10	protein_coding	5/8			chr3	TogoVar
VCX3B_chrX_8459830_8471510	8466910	G G	GGGAGGGA others(309): Show GGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGGG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG TGTGGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0017 a0017	a0017c0015 a0017c0015	a0017c0015t0006 a0017c0015t0006	a0017c0015t0006g0009 a0017c0015t0006g0009	1	271	0.0037	316	c.52 others(325): Show c.527_*528insGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGT	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		401		chrX	TogoVar
VCX_chrX_7838171_7849143	7844242	G G	GGGGAGGG others(309): Show GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0001 a0007c0007t0001g0001	1	341	0.0029	316	c.22 others(325): Show c.226_*227insGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGA AGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGGAGGAAGAGGTGTGTGGGGAGGGA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		100		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(309): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	408	0.0025	316	c.53+ others(331): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(309): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	408	0.0025	316	c.53+ others(331): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(309): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	408	0.0025	316	c.53+ others(331): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
WDHD1_chr14_54933949_55032099	55022704	C C	CAAAAAAC others(309): Show CAAAAAACCTGTTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0141 a0001c0001t0016g0141	1	286	0.0035	316	c.77+ others(331): Show c.77+4006_77+4007insTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTGAACAGGTTTTTT	WDHD1	ENSG00000198554.12	transcript	ENST00000360586.8	protein_coding	2/25			chr14	TogoVar
WDR27_chr6_169452212_169707029	169663275	T T	TAAAACAT others(309): Show TAAAACATCAGGAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTATAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCCGGGCGACAGAGCGAGACTCCATCTCAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp1 others(28): Show HG00099.hp1 HG00408.hp2 HG00438.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01433.hp1 HG01891.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02056.hp2 HG02083.hp1 HG02486.hp1 HG03098.hp2 HG03834.hp1 HG03927.hp1 NA18612.hp2 NA18939.hp2 NA18944.hp2 NA18953.hp1 NA18973.hp2 NA18990.hp1 NA18995.hp1 NA18999.hp1 NA19005.hp2 NA19063.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 homoSapiens_chm13v2.hp1	a0005 a0008 a0017 others(1): Show a0005 a0008 a0017 a0036	a0005c0004 a0005c0042 a0005c0052 others(4): Show a0005c0004 a0005c0042 a0005c0052 a0008c0009 a0017c0040 a0017c0041 a0036c0043	a0005c0004t0002 a0005c0004t0009 a0005c0004t0022 others(8): Show a0005c0004t0002 a0005c0004t0009 a0005c0004t0022 a0005c0004t0023 a0005c0042t0002 a0005c0052t0002 a0008c0009t0002 a0008c0009t0011 a0017c0040t0005 a0017c0041t0002 a0036c0043t0002	a0005c0004t0002g0039 a0005c0004t0002g0077 a0005c0004t0002g0078 others(28): Show a0005c0004t0002g0039 a0005c0004t0002g0077 a0005c0004t0002g0078 a0005c0004t0002g0080 a0005c0004t0002g0083 a0005c0004t0002g0085 a0005c0004t0002g0089 a0005c0004t0002g0090 a0005c0004t0002g0091 a0005c0004t0002g0095 a0005c0004t0002g0096 a0005c0004t0002g0097 a0005c0004t0002g0099 a0005c0004t0009g0286 a0005c0004t0009g0288 a0005c0004t0009g0289 a0005c0004t0009g0290 a0005c0004t0009g0291 a0005c0004t0009g0292 a0005c0004t0009g0293 a0005c0004t0022g0284 a0005c0004t0023g0294 a0005c0042t0002g0093 a0005c0052t0002g0079 a0008c0009t0002g0081 a0008c0009t0002g0082 a0008c0009t0002g0084 a0008c0009t0011g0037 a0017c0040t0005g0086 a0017c0041t0002g0040 a0036c0043t0002g0102	31	294	0.1054	316	c.905 others(331): Show c.905-852_905-851insTTTTTTTTTTTTTTTTTTTTTGAGATGGAG TCTCGCTCTGTCGCCCGGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTATAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTTTCCTGATGTTTT	WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding	8/25			chr6	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(309): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0120 a0001c0002t0002g0120	1	326	0.0031	316	c.483 others(331): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WNK1_chr12_747579_916452	878786	T T	TTTTTTTT others(309): Show TTTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0017 a0017	a0017c0031 a0017c0031	a0017c0031t0033 a0017c0031t0033	a0017c0031t0033g0099 a0017c0031t0033g0099	1	284	0.0035	316	c.237 others(333): Show c.2373+436_2373+437insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTTCTT	WNK1	ENSG00000060237.19	transcript	ENST00000315939.11	protein_coding	10/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
WWOX_chr16_78094654_79217667	78114688	C C	CAAGAAGC others(309): Show CAAGAAGCGTTTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAGACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03579.hp2 HG01884.hp1 HG03579.hp2	a0003 a0011 a0003 a0011	a0003c0004 a0011c0016 a0003c0004 a0011c0016	a0003c0004t0004 a0011c0016t0014 a0003c0004t0004 a0011c0016t0014	a0003c0004t0004g0013 a0011c0016t0014g0136 a0003c0004t0004g0013 a0011c0016t0014g0136	2	142	0.0141	316	c.231 others(331): Show c.231-281_231-280insGTTTTTTGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAGACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAGC	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWP2_chr16_69757332_69946739	69791969	T T	TCATTATA others(309): Show TCATTATACACATATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18906.hp1 HG01891.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0003 a0001c0002t0013g0004 a0001c0002t0013g0003 a0001c0002t0013g0004	2	314	0.0064	316	c.70+ others(331): Show c.70+4905_70+4906insTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCATTATACACATATTT	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
XDH_chr2_31329321_31419742	31336813	T T	TAAAAAGA others(309): Show TAAAAAGAGGAAGCCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp2 HG00673.hp1 others(13): Show HG00544.hp1 HG00621.hp2 HG00673.hp1 HG01175.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp1 NA18943.hp2 NA18964.hp1 NA18967.hp2 NA18988.hp2 NA19057.hp1 NA19057.hp2 NA19068.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0003 a0001c0003t0003 a0001c0001t0003 a0001c0002t0003 a0001c0003t0003	a0001c0001t0003g0095 a0001c0001t0003g0116 a0001c0001t0003g0143 others(13): Show a0001c0001t0003g0095 a0001c0001t0003g0116 a0001c0001t0003g0143 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0188 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0247 a0001c0001t0003g0275 a0001c0002t0003g0078 a0001c0003t0003g0327 a0001c0003t0003g0342	16	370	0.0432	316	c.395 others(333): Show c.3952-806_3952-805insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGGGGCTTCCTCTTTTT	XDH	ENSG00000158125.10	transcript	ENST00000379416.4	protein_coding	35/35			chr2	TogoVar
XDH_chr2_31329321_31419742	31336814	T T	TAAAAAGA others(309): Show TAAAAAGAGGAAGCCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG02004.hp2 others(1): Show HG00738.hp1 HG01074.hp1 HG02004.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0033 a0001c0001t0003g0077 a0001c0001t0003g0107 others(1): Show a0001c0001t0003g0033 a0001c0001t0003g0077 a0001c0001t0003g0107 a0001c0002t0003g0356	4	370	0.0108	316	c.395 others(333): Show c.3952-807_3952-806insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGGGGCTTCCTCTTTTT	XDH	ENSG00000158125.10	transcript	ENST00000379416.4	protein_coding	35/35			chr2	TogoVar
XG_chrX_2747040_2821500	2773489	A A	AGGAAGGA others(309): Show AGGAAGGAGAGAAGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAG GAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGA AGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAG GAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGA GAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGA GAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGA GGGAAGGAAGGAGAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	322	0.0031	316	c.104 others(333): Show c.104-1220_104-1219insGAGAAGGAAGGAAGGAGAGAGGGAAGGA AGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAG GAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGA GAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGA GAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGA GGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGG GAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGA	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZBTB44_chr11_130221677_130319917	130256655	A A	AAAATAAA others(309): Show AAAATAAATAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA TAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01175.hp1 HG01516.hp2 others(2): Show HG01069.hp2 HG01175.hp1 HG01516.hp2 HG02647.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0032 a0001c0003t0042 others(1): Show a0001c0003t0019 a0001c0003t0032 a0001c0003t0042 a0001c0003t0049	a0001c0003t0019g0040 a0001c0003t0019g0042 a0001c0003t0032g0041 others(2): Show a0001c0003t0019g0040 a0001c0003t0019g0042 a0001c0003t0032g0041 a0001c0003t0042g0061 a0001c0003t0049g0280	5	290	0.0172	316	c.101 others(335): Show c.1018+4200_1018+4201insATTTATTTATTTATTTATTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTATTTATTTATTT	ZBTB44	ENSG00000196323.14	transcript	ENST00000357899.9	protein_coding	2/7			chr11	TogoVar
ZFP42_chr4_187990771_188010046	187992046	G G	GGGGAGAG others(309): Show GGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGG AGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGG GAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGA GGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCG TGGGGAGAGGGAGAGTGGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGACC GTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGA CCGTGGGGAGAGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	448	0.0022	316	c.-41 others(327): Show c.-4133_-4132insGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAG ACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGA GAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGG GAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGA GGGAGAGGGAGACCGTGGGGAGAGGGAGAGTGGGGAGAGGGGAGAGGGAG AGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGG AGAGGGAGAGGGAGACCGTGGGGAGAGGGAGA	ZFP42	ENSG00000179059.10	transcript	ENST00000326866.5	protein_coding		3724		chr4	TogoVar
ZFYVE19_chr15_40802089_40820084	40808120	G G	GCAAAGCT others(309): Show GCAAAGCTACTCTTTAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGACTCACTGCA AGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGTGTA GCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01192.hp1 HG01993.hp2 others(5): Show HG00639.hp1 HG01192.hp1 HG01993.hp2 HG02132.hp1 HG02273.hp2 NA18989.hp2 NA19060.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0011 a0002c0002t0003g0030 a0002c0002t0003g0011 a0002c0002t0003g0030	8	382	0.0209	316	c.279 others(331): Show c.279+266_279+267insAATTTTTTTTTTTTTTTTTTTTTGAGACGG AGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGACTCA CTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCT GTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAAAGCTACTCTTT	ZFYVE19	ENSG00000166140.17	transcript	ENST00000355341.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZGRF1_chr4_112534339_112641909	112556126	T T	TAAGAGTG others(309): Show TAAGAGTGTGTACTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAGA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18947.hp1 NA18974.hp1 HG00558.hp1 NA18947.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0302 a0001c0001t0001g0327 a0001c0001t0001g0328	3	390	0.0077	316	c.512 others(335): Show c.5121-1345_5121-1344insTTTTTTTTTTTTTTTTTTCTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCAGTACACACTCTT	ZGRF1	ENSG00000138658.16	transcript	ENST00000505019.6	protein_coding	20/27			chr4	TogoVar
ZMYM5_chr13_19818482_19868649	19832900	T T	TAAAAAAA others(309): Show TAAAAAAATTGTTTTGACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCACCCCGGCTAAAATGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0253 a0003c0003t0003g0253	1	296	0.0034	316	c.125 others(335): Show c.1251+2576_1251+2577insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTT AGCCGGGGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTCAAAACAATTTTTTT	ZMYM5	ENSG00000132950.19	transcript	ENST00000337963.9	protein_coding	7/7			chr13	TogoVar
ZNF133_chr20_18283527_18321996	18318871	T T	TAAGACCC others(309): Show TAAGACCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGAAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01358.hp2 NA19004.hp1 HG00621.hp1 HG01358.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	3	372	0.0081	316	c.20 others(327): Show c.2055_*2056insAAGACCCCTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCC	ZNF133	ENSG00000125846.17	transcript	ENST00000425686.3	protein_coding		1876		chr20	TogoVar
ZNF207_chr17_32345157_32386885	32357181	T T	TAAAAAAA others(309): Show TAAAAAAAAAAAAAAAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA TTAGCCGGGCATGGTGGCGCACGCCTGTAGTCCCAGCTACACGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp1 HG02809.hp1 others(1): Show HG02451.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0033 a0001c0001t0044 a0001c0001t0009 a0001c0001t0033 a0001c0001t0044	a0001c0001t0009g0268 a0001c0001t0009g0270 a0001c0001t0033g0272 others(1): Show a0001c0001t0009g0268 a0001c0001t0009g0270 a0001c0001t0033g0272 a0001c0001t0044g0269	4	296	0.0135	316	c.169 others(333): Show c.169-1308_169-1307insAGTTGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCCGGGCATGGTGGCGCACGCCTGTAGTCCCAGCTACACG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ZNF207	ENSG00000010244.19	transcript	ENST00000394670.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ZNF277_chr7_112201695_112348934	112238781	T T	TGATATTT others(309): Show TGATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	280	0.0036	316	c.91+ others(333): Show c.91+31984_91+31985insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCGATATTTTTT	ZNF277	ENSG00000198839.10	transcript	ENST00000361822.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF407_chr18_74592870_75070671	74812027	T T	TAAAAATA others(309): Show TAAAAATAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGAGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0002 a0005c0016t0002	a0005c0016t0002g0033 a0005c0016t0002g0034 a0005c0016t0002g0033 a0005c0016t0002g0034	2	92	0.0217	316	c.487 others(337): Show c.4877+30538_4877+30539insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAATTAGCCGGGAGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAA	ZNF407	ENSG00000215421.10	transcript	ENST00000299687.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF492_chr19_22629324_22672671	22634027	G G	GCCATATA others(309): Show GCCATATAGTATATATATATATATATTTTTTTTTTTTTGAGACGGAGTCT GGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGG CTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 NA18973.hp1 NA18979.hp2 others(2): Show HG02080.hp1 NA18973.hp1 NA18979.hp2 NA19012.hp1 NA19077.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0116 a0005c0005t0004g0119 a0005c0005t0004g0120 others(2): Show a0005c0005t0004g0116 a0005c0005t0004g0119 a0005c0005t0004g0120 a0005c0005t0004g0122 a0005c0005t0004g0123	5	366	0.0137	316	c.-54 others(325): Show c.-541_-540insCCATATAGTATATATATATATATATTTTTTTTTTTT TGAGACGGAGTCTGGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTC GGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGC	ZNF492	ENSG00000229676.3	transcript	ENST00000456783.3	protein_coding		296		chr19	TogoVar
ZNF492_chr19_22629324_22672671	22634027	G G	GCCATATA others(309): Show GCCATATAGTATATATATATTTTTTTTTTTTTTTTTTTGAGACGGAGTCT GGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGG CTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0014 a0014	a0014c0011 a0014c0011	a0014c0011t0004 a0014c0011t0004	a0014c0011t0004g0113 a0014c0011t0004g0113	1	366	0.0027	316	c.-54 others(325): Show c.-541_-540insCCATATAGTATATATATATTTTTTTTTTTTTTTTTT TGAGACGGAGTCTGGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTC GGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGC	ZNF492	ENSG00000229676.3	transcript	ENST00000456783.3	protein_coding		296		chr19	TogoVar
ZNF492_chr19_22629324_22672671	22636886	G G	GGCCTCCC others(309): Show GGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCAA TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCT CGTTGCCCAGGCTGGAGTGCAATAGTGCCATTTCGGCTCACTGCAACCTC CGTCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GATTACAGGCATGCGCCACCTCTCCTAGCTAATTTTGTACTTTTAGTAGA GACAGTGTTTCTCCATGTTGGTCAGGCTCGTCTTGACCTCCCGACCTCAG GTGATCCACTCACCTCA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02622.hp1 HG02273.hp2 HG02622.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0012 a0004c0004t0007 a0004c0004t0012	a0004c0004t0007g0075 a0004c0004t0012g0076 a0004c0004t0007g0075 a0004c0004t0012g0076	2	366	0.0055	316	c.-94 others(333): Show c.-94+2449_-94+2450insGTGCCCGGCCAATTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTCGTTGCCCAGGCTGGA GTGCAATAGTGCCATTTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAA GGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGC CACCTCTCCTAGCTAATTTTGTACTTTTAGTAGAGACAGTGTTTCTCCAT GTTGGTCAGGCTCGTCTTGACCTCCCGACCTCAGGTGATCCACTCACCTC AGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACC	ZNF492	ENSG00000229676.3	transcript	ENST00000456783.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF573_chr19_37733302_37784586	37751663	C C	CATGTATA others(309): Show CATGTATACTGTGTATATATACAGTATAGACAGCATGTATACTGTGTATA TATACAGTATAGACAGCATGTATACTGTGTATATATACAGTATAGACAGC ATGTATACTGTGTATATATACAGTATAGACAGCATGTATACTGTGTATAT ATACAGTATAGACAGCATGTATACTGTGTATATATACAGTATAGACAGCA TATATACTGTGTATAGTACATAGTACCGTATATATACTGTATATAGTACA TAGTACCGTATATATACTGTATATAGTACATAGTACCGTATATACTGTAT ATAGTACATAGTACCGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	350	0.0029	316	c.296 others(335): Show c.296-11470_296-11469insACGGTACTATGTACTATATACAGTAT ATACGGTACTATGTACTATATACAGTATATATACGGTACTATGTACTATA TACAGTATATATACGGTACTATGTACTATACACAGTATATATGCTGTCTA TACTGTATATATACACAGTATACATGCTGTCTATACTGTATATATACACA GTATACATGCTGTCTATACTGTATATATACACAGTATACATGCTGTCTAT ACTGTATATATACACAGTATACATGCTGTCTATACTGTATATATACACAG TATACATGCTGTCTATACTGTATATATACACAGTATACAT	ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding	4/4			chr19	TogoVar
ZNF667_chr19_56434329_56482345	56454675	T T	TAAAAATG others(309): Show TAAAAATGGATTAAAGACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTC AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18981.hp2 NA19089.hp2 HG01261.hp1 NA18981.hp2 NA19089.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0007 a0002c0003t0002 a0002c0003t0007	a0002c0003t0002g0229 a0002c0003t0007g0038 a0002c0003t0002g0229 a0002c0003t0007g0038	3	362	0.0083	316	c.253 others(333): Show c.253+3479_253+3480insTTTTTTTTTTTTTTTTTGAGACAGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCGTCTTTAATCCATTTTT	ZNF667	ENSG00000198046.13	transcript	ENST00000504904.8	protein_coding	6/6			chr19	TogoVar
ZNF681_chr19_23734195_23763891	23734250	A A	ACTTATTG others(309): Show ACTTATTGACTTGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp2 NA18950.hp1 others(5): Show NA18522.hp1 NA18522.hp2 NA18950.hp1 NA19006.hp1 NA19063.hp2 NA19083.hp2 NA19087.hp2 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 a0005c0005t0010	a0001c0001t0001g0007 a0001c0001t0001g0045 a0001c0001t0001g0202 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0045 a0001c0001t0001g0202 a0001c0001t0005g0013 a0001c0001t0018g0157 a0005c0005t0010g0170	8	394	0.0203	316	c.93 others(327): Show c.9361_*9362insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAACAAGTCAATAAG	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		4944		chr19	TogoVar

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