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
TRMT10C_chr3_101556868_101571446	101567132	T T	TAAAAATA others(310): Show TAAAAATAAAGTTTTTGGTGGCTCGAGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTA ACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGC GGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACT GCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAATAAAATAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	429	0.0023	317	c.11 others(328): Show c.1139_*1140insAAAAATAAAGTTTTTGGTGGCTCGAGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAATAAAATAAAAAAA	TRMT10C	ENSG00000174173.7	transcript	ENST00000309922.7	protein_coding		687		chr3	TogoVar
TRPC4_chr13_37627063_37874772	37866970	G G	GAGGTCAA others(310): Show GAGGTCAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGA GCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0236 a0001c0001t0035g0236	1	286	0.0035	317	c.-28 others(334): Show c.-28+2624_-28+2625insGTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCTCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTATTGACCT	TRPC4	ENSG00000133107.15	transcript	ENST00000379705.8	protein_coding	1/10			chr13	TogoVar
TRPM3_chr9_70524060_71126621	70917553	A A	ACAGTGTT others(310): Show ACAGTGTTAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0046 a0002c0003t0003g0046	1	214	0.0047	317	c.178 others(336): Show c.178-53043_178-53042insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACTTAACACTG	TRPM3	ENSG00000083067.26	transcript	ENST00000677713.2	protein_coding	1/25			chr9	TogoVar
TSPAN11_chr12_30921748_31001599	30967795	T T	TGGCCTAG others(310): Show TGGCCTAGAATCTGCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	394	0.0025	317	c.276 others(334): Show c.276+3799_276+3800insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTAGAATCTGCTTTCTTT	TSPAN11	ENSG00000110900.16	transcript	ENST00000546076.6	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN33_chr7_129139707_129174699	129147157	T T	TAAAAAAT others(310): Show TAAAAAATCAGAGGCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCTGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGTTACTGGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0079 a0001c0001t0005g0079	1	432	0.0023	317	c.102 others(334): Show c.102+2091_102+2092insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGTTACTGGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAATCAGAGGCTC	TSPAN33	ENSG00000158457.6	transcript	ENST00000486685.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
TTC17_chr11_43353920_43499931	43441114	C C	CAAAAAAA others(310): Show CAAAAAAAGTAGCCAGGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCTGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp2 HG01891.hp1 others(17): Show HG01243.hp2 HG01496.hp2 HG01891.hp1 HG02109.hp2 HG02559.hp2 HG02622.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG03516.hp1 NA19240.hp2 NA20300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0003 a0002c0003t0002g0051 a0002c0003t0002g0207 others(17): Show a0002c0003t0002g0003 a0002c0003t0002g0051 a0002c0003t0002g0207 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0212 a0002c0003t0002g0213 a0002c0003t0002g0214 a0002c0003t0002g0215 a0002c0003t0002g0216 a0002c0003t0002g0217 a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0222 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0225	20	298	0.0671	317	c.225 others(336): Show c.2252-2193_2252-2192insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCTGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAGTAGCCAGGTG	TTC17	ENSG00000052841.16	transcript	ENST00000039989.9	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TUBB3_chr16_89918342_89941097	89927573	T T	TCCATTTT others(310): Show TCCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCA TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	398	0.0025	317	c.57+ others(332): Show c.57+4126_57+4127insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCATGAGCCACCGCGCCCGGCCCATTTTTTTT	TUBB3	ENSG00000258947.8	transcript	ENST00000315491.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
TUSC3_chr8_15535263_15771638	15541827	G G	GAAGAAAA others(310): Show GAAGAAAAAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTG CGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG04199.hp2 NA18943.hp1 HG01123.hp2 HG04199.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0002g0206 a0001c0001t0005g0190 a0001c0001t0006g0360 a0001c0001t0002g0206 a0001c0001t0005g0190 a0001c0001t0006g0360	3	372	0.0081	317	c.138 others(334): Show c.138+1271_138+1272insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGTAG	TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
TXNDC16_chr14_52425596_52557505	52530328	A A	AATAATAT others(310): Show AATAATATAATATATATTATTATATAATATTATATATAATATTATAATAT AATATATATTATTATATAATATTATATATAATAATATAATATATATTATT ATATATTATTATATATAATAATATAATATATATTATTATATATTATTATA TATAATAATATAATATATATTATTATATATAATTATATATAATAATATAA TATATATTATTATATATTATTATATATAATAATATAATATATATTATTAT ATATTATTATATATAATAATATATATTATATTATTATATATAATTATATA TAATAATATATATTATAT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19009.hp2 NA18980.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0033 a0001c0001t0001g0035	2	238	0.0084	317	c.392 others(334): Show c.392+6390_392+6391insATATAATATATATTATTATATATAATTA TATATAATAATATAATATATATTATTATATATAATAATATATAATAATAT ATATTATATTATTATATATAATAATATATAATAATATATATTATATTATT ATATATAATTATATATAATAATATATATTATATTATTATATATAATAATA TATAATAATATATATTATATTATTATATATAATAATATATAATAATATAT ATTATATTATTATATATAATATTATATAATAATATATATTATATTATAAT ATTATATATAATATTATATAATAATATATATTATATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TYK2_chr19_10345533_10385572	10377665	T T	TGGATGGG others(310): Show TGGATGGGTGGGTGGATGGATGGGTGGATGGATGAATGGGTGGGTGGATG AATGGGTGGGTGGGTGGATGAATGGGTGGGTAGGTGGATGGATGGGTGGG TAGGTGTGTGGGTGGATGGATGGATAGATGGGTGGGTGCGTGGATGAATG GATGGATGGATGAATGGATGGATGGGTGGGTGGATGGATGGATGGATGGA TGGGTGGGTGGGTGGATGAATGGATGGATGGATGGATGGATGGATGGATA GATGCATGGGTGGAGGGTGAGTGGGTGGGTGGATGGGTGGATGGATGGAT GTGTGGGTGGATGGATGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	376	0.0027	317	c.193 others(332): Show c.193+548_193+549insCCATCCATCCACCCACACATCCATCCATCC ACCCATCCACCCACCCACTCACCCTCCACCCATGCATCTATCCATCCATC CATCCATCCATCCATCCATTCATCCACCCACCCACCCATCCATCCATCCA TCCATCCACCCACCCATCCATCCATTCATCCATCCATCCATTCATCCACG CACCCACCCATCTATCCATCCATCCACCCACACACCTACCCACCCATCCA TCCACCTACCCACCCATTCATCCACCCACCCACCCATTCATCCACCCACC CATTCATCCATCCACCCATCCATCCACCCACCCATCC	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYW1_chr7_66991833_67244514	67016239	G G	GGGGAGTT others(310): Show GGGGAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0203 a0003c0005t0002g0203	1	364	0.0028	317	c.571 others(334): Show c.571-1601_571-1600insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCGGGAGTTTTTTTT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBE2N_chr12_93400684_93446947	93418523	A A	ACTGACTG others(310): Show ACTGACTGCCTATTTTCTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA20300.hp1 HG03486.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0075 a0001c0001t0074 a0001c0001t0075	a0001c0001t0074g0259 a0001c0001t0075g0260 a0001c0001t0074g0259 a0001c0001t0075g0260	2	372	0.0054	317	c.31- others(332): Show c.31-7225_31-7224insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAGAAAGAAAATAGGCAGTCAG	UBE2N	ENSG00000177889.10	transcript	ENST00000318066.7	protein_coding	1/3			chr12	TogoVar
ULK4_chr3_41241599_41967103	41469735	T T	TAAGAAAG others(310): Show TAAGAAAGCTCCAACAATAGGCCGGGCGCAGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGCAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02976.hp1 HG03486.hp2 others(2): Show HG02145.hp1 HG02976.hp1 HG03486.hp2 HG06807.hp1 NA18522.hp1	a0004 a0005 a0009 a0004 a0005 a0009	a0004c0009 a0005c0006 a0009c0010 a0004c0009 a0005c0006 a0009c0010	a0004c0009t0002 a0005c0006t0004 a0009c0010t0002 a0004c0009t0002 a0005c0006t0004 a0009c0010t0002	a0004c0009t0002g0012 a0005c0006t0004g0002 a0005c0006t0004g0003 others(2): Show a0004c0009t0002g0012 a0005c0006t0004g0002 a0005c0006t0004g0003 a0009c0010t0002g0004 a0009c0010t0002g0056	5	72	0.0694	317	c.322 others(336): Show c.3227-6483_3227-6482insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCTGCCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACTGCGCCCGGCCTATTGTTGGAGCTTTCTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7718904	T T	TAAAGCTT others(310): Show TAAAGCTTCCCAAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCGGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp1 HG02280.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0057 a0001c0001t0015 a0001c0001t0057	a0001c0001t0015g0112 a0001c0001t0057g0122 a0001c0001t0015g0112 a0001c0001t0057g0122	2	250	0.0080	317	c.82+ others(334): Show c.82+45466_82+45467insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCGGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCCCAAGTG	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(310): Show CAAAACTAGACATATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGT AGCCGGGCGTGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGTGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02300.hp1 HG03471.hp2 others(1): Show HG02148.hp1 HG02300.hp1 HG03471.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0038 others(1): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0038 a0001c0001t0057	a0001c0001t0006g0137 a0001c0001t0012g0056 a0001c0001t0038g0100 others(1): Show a0001c0001t0006g0137 a0001c0001t0012g0056 a0001c0001t0038g0100 a0001c0001t0057g0145	4	158	0.0253	317	c.307 others(338): Show c.3071+13110_3071+13111insGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAGTAGCCGGGCGTGGTGGCGCGCGCCTGTAGTCCCAGCTACACGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGTCGTGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAACTAGACATATTTG	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(310): Show TGAAAGTATATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0146 a0001c0002t0060g0146	1	158	0.0063	317	c.537 others(335): Show c.5379+999_5379+1000insGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTATATT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	23/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5D_chr8_35230475_35801540	35248328	A A	AAGAAATA others(310): Show AAGAAATAGATATAATATATAAATATATGTTATATAAGAAATAGATATAA TATATAAATATATGTTATATAAGAAATAGATATAATATATAAATATATGT TATATATGAAATAGATATAATATATAAATATATGTTATATATGAAATAGA TATAATATATAAATATATGTTATATATGAAATAGATATAATATATAAATA TATGTTATATATGAAATAGATATAATATATAAATATATGTTATATATGAA ATAGATATAATATATAAATATATGTTATATATGAAATAGATATAATATAT AAATATATGTTATATATG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0033 a0001c0003t0005g0033	1	64	0.0156	317	c.103 others(336): Show c.103+12442_103+12443insGAAATAGATATAATATATAAATATAT GTTATATAAGAAATAGATATAATATATAAATATATGTTATATAAGAAATA GATATAATATATAAATATATGTTATATATGAAATAGATATAATATATAAA TATATGTTATATATGAAATAGATATAATATATAAATATATGTTATATATG AAATAGATATAATATATAAATATATGTTATATATGAAATAGATATAATAT ATAAATATATGTTATATATGAAATAGATATAATATATAAATATATGTTAT ATATGAAATAGATATAATATATAAATATATGTTATATATGA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC79_chr14_93425939_93712876	93650935	T T	TAAAACCC others(310): Show TAAAACCCATCTCAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0011 a0011	a0011c0033 a0011c0033	a0011c0033t0001 a0011c0033t0001	a0011c0033t0001g0007 a0011c0033t0001g0007	1	193	0.0052	317	c.641 others(336): Show c.6417-2794_6417-2793insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACCCATCTCA	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	38/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC80_chr2_209766832_210004296	209903554	T T	TATATATA others(310): Show TATATATACTATATATATTATATATAGTATATATGTAATATATATACTAT ATATATTATATATAGTATATATGTAATATATATACTATATATACTATATA TAGTATATATGTAATATATATACTATATATACTATATATAGTATATATGT AATATATATACTATATATAGTATATATGTAATATATATACTATATATAGT ATATATGTAATATATATATACTATATATAGTATATATGTAATATATATAA TATATAGTATATATGTAATATATATATAGTATATATGTAATATATATACT ATATATAGTATATATGTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0122	1	188	0.0053	317	c.458 others(336): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATATTATATATAGTATATATGTAATATATATA CTATATATACTATATATAGTATATATGTAATATATATACTATATATACTA TATATAGTATATATGTAATATATATACTATATATAGTATATATGTAATAT ATATACTATATATAGTATATATGTAATATATATATACTATATATAGTATA TATGTAATATATATAATATATAGTATATATGTAATATATATATAGTATAT ATGTAATATATATACTATATATAGTATATATGTAATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
USH2A_chr1_215617891_216428448	216265176	T T	TAAAACAG others(310): Show TAAAACAGGTGCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGC CGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCTACACAGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02896.hp2 HG03130.hp2 others(3): Show HG01109.hp2 HG02896.hp2 HG03130.hp2 HG03225.hp1 HG03486.hp2 NA19043.hp1	a0032 a0043 a0050 others(3): Show a0032 a0043 a0050 a0058 a0062 a0063	a0032c0047 a0043c0021 a0050c0039 others(3): Show a0032c0047 a0043c0021 a0050c0039 a0058c0011 a0062c0015 a0063c0042	a0032c0047t0003 a0043c0021t0005 a0050c0039t0002 others(3): Show a0032c0047t0003 a0043c0021t0005 a0050c0039t0002 a0058c0011t0001 a0062c0015t0011 a0063c0042t0001	a0032c0047t0003g0017 a0043c0021t0005g0003 a0050c0039t0002g0031 others(3): Show a0032c0047t0003g0017 a0043c0021t0005g0003 a0050c0039t0002g0031 a0058c0011t0001g0046 a0062c0015t0011g0008 a0063c0042t0001g0030	6	74	0.0811	317	c.197 others(338): Show c.1972-14079_1972-14078insTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGACTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCTGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAAT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTTGCACCTGTTTT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	11/71			chr1	TogoVar
VCX3A_chrX_6528618_6540118	6533091	T T	TCCTTCCT others(310): Show TCCTTCCTCCCTCCCCACACACCTCCTCTTCTCCCTCCCTCCCCACACAC CACCTCTTCCTCCCTCCCTCCCTCCCCCACACACCACCTCTTCCCCCCTC CCTCCCTCCCTCCCCACACACCACCTCTTCCTCCTCCCTCCCTCCCCACA CACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCC TCCCTCCCTCCCCACACACCTCCTCTTCCTCCTCCCTCCCCACACACCTC TTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCC ACACACCACCTCTTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0000 a0000	a0000c0028 a0000c0028	a0000c0028t0001 a0000c0028t0001	a0000c0028t0001g0027 a0000c0028t0001g0027	1	74	0.0135	317	c.65 others(326): Show c.653_*654insGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA GGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGT GTGTGGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGAAGAGGAGGTGTGTGGGGAGGGAGGAAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		526		chrX	TogoVar
VWF_chr12_5943877_6129670	5957623	T T	TGAAATTT others(310): Show TGAAATTTAAAAACAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCA TCTTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGAT TGTGCCACTGCAATCCGGCCTGGGCTAAAGAGCGGGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02451.hp2 others(2): Show HG01167.hp1 HG01169.hp2 HG02451.hp2 HG02922.hp1 HG03540.hp2	a0006 a0033 a0042 a0006 a0033 a0042	a0006c0036 a0033c0025 a0042c0059 a0006c0036 a0033c0025 a0042c0059	a0006c0036t0001 a0033c0025t0001 a0042c0059t0001 a0006c0036t0001 a0033c0025t0001 a0042c0059t0001	a0006c0036t0001g0208 a0006c0036t0001g0219 a0033c0025t0001g0178 others(2): Show a0006c0036t0001g0208 a0006c0036t0001g0219 a0033c0025t0001g0178 a0033c0025t0001g0180 a0042c0059t0001g0129	5	288	0.0174	317	c.788 others(336): Show c.7888-4030_7888-4029insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCCCGCTCTTTAGCCCAGGCCGGATTGCAGTGGCACAATCTTGGC TCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCG ATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCAGCCTGTTTTTAAATTTC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	47/51			chr12	TogoVar
WDHD1_chr14_54933949_55032099	55022704	C C	CAAAAAAC others(310): Show CAAAAAACCTGTTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp1 HG03486.hp2 HG02965.hp1 HG03098.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0003g0142 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0003g0142	3	286	0.0105	317	c.77+ others(332): Show c.77+4006_77+4007insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTGAACAGGTTTTTT	WDHD1	ENSG00000198554.12	transcript	ENST00000360586.8	protein_coding	2/25			chr14	TogoVar
WDPCP_chr2_63114559_63593477	63560041	A A	ACCAAACC others(310): Show ACCAAACCCTGTCTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0119 a0001c0001t0030g0119	1	216	0.0046	317	c.75+ others(334): Show c.75+28155_75+28156insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAGAGACAGGGTTTGG	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDR27_chr6_169452212_169707029	169663275	T T	TAAAACAT others(310): Show TAAAACATCAGGAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTATAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCCGGGCGACAGAGCGAGACTCCATCTCAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02027.hp2 NA18956.hp1 others(3): Show HG01978.hp1 HG02027.hp2 NA18956.hp1 NA18993.hp1 NA19058.hp1 NA19077.hp2	a0005 a0008 a0005 a0008	a0005c0004 a0008c0009 a0008c0038 a0005c0004 a0008c0009 a0008c0038	a0005c0004t0002 a0005c0004t0009 a0008c0009t0002 others(1): Show a0005c0004t0002 a0005c0004t0009 a0008c0009t0002 a0008c0038t0011	a0005c0004t0002g0087 a0005c0004t0002g0088 a0005c0004t0002g0098 others(3): Show a0005c0004t0002g0087 a0005c0004t0002g0088 a0005c0004t0002g0098 a0005c0004t0009g0287 a0008c0009t0002g0101 a0008c0038t0011g0038	6	294	0.0204	317	c.905 others(332): Show c.905-852_905-851insTTTTTTTTTTTTTTTTTTTTTTGAGATGGA GTCTCGCTCTGTCGCCCGGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTATAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTTTCCTGATGTTTT	WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding	8/25			chr6	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TATTATAT others(310): Show TATTATATATATATTATATATATATATAATATATATATATTATATATATA TAATATATATATTATATATATATAATATATATATTATATATATATAATAT ATATATATTATATATATATATAATATATATATATTATATATATATATAAT ATATATATTATATATATAATATATATATTATATATATATATTATATATAT ATTATATAATATAATATTATTATATATTATATAATATATATATAATATAT AATAATATATAATATATATAATATATATATTATATATATATATTATATAT ATATATAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0020 a0020	a0020c0025 a0020c0025	a0020c0025t0003 a0020c0025t0003	a0020c0025t0003g0111 a0020c0025t0003g0111	1	330	0.0030	317	c.37 others(328): Show c.3793_*3794insCTCTCTCTCTCTATATATATATATAATATATATA TATAATATATATATTATATATATTATATATTATTATATATTATATATATA TTATATAATATATAATAATATTATATTATATAATATATATATAATATATA TATATAATATATATATTATATATATAATATATATATTATATATATATATA ATATATATATATTATATATATATATAATATATATATATTATATATATATA ATATATATATTATATATATATAATATATATATTATATATATATAATATAT ATATATTATATATATATATAATATATATATAAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
WWOX_chr16_78094654_79217667	79156823	T T	TGAAAGAA others(310): Show TGAAAGAAGACCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp2 HG03098.hp2 HG02886.hp1 HG02922.hp2 HG03098.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0003 a0002c0002 a0006c0003	a0002c0002t0001 a0006c0003t0015 a0006c0003t0016 a0002c0002t0001 a0006c0003t0015 a0006c0003t0016	a0002c0002t0001g0010 a0006c0003t0015g0135 a0006c0003t0016g0081 a0002c0002t0001g0010 a0006c0003t0015g0135 a0006c0003t0016g0081	3	142	0.0211	317	c.105 others(338): Show c.1057-54770_1057-54769insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCGAAAGAAGACCTTTT	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
XDH_chr2_31329321_31419742	31336813	T T	TAAAAAGA others(310): Show TAAAAAGAGGAAGCCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19081.hp2 HG00438.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0003 a0002c0008t0003 a0001c0001t0003 a0002c0008t0003	a0001c0001t0003g0112 a0002c0008t0003g0230 a0001c0001t0003g0112 a0002c0008t0003g0230	2	370	0.0054	317	c.395 others(334): Show c.3952-806_3952-805insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGGGGCTTCCTCTTTTT	XDH	ENSG00000158125.10	transcript	ENST00000379416.4	protein_coding	35/35			chr2	TogoVar
XDH_chr2_31329321_31419742	31336814	T T	TAAAAAGA others(310): Show TAAAAAGAGGAAGCCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01361.hp2 HG01496.hp1 others(15): Show HG00741.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG02300.hp1 HG02647.hp2 HG03225.hp1 HG03710.hp1 NA18941.hp1 NA18948.hp2 NA18982.hp2 NA18986.hp2 NA18999.hp2 NA19003.hp2 NA19011.hp1 NA19056.hp2 NA19059.hp2	a0001 a0002 a0008 others(3): Show a0001 a0002 a0008 a0014 a0020 a0022	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0008c0011 a0014c0038 a0020c0039 a0022c0030	a0001c0001t0003 a0001c0002t0003 a0001c0003t0003 others(5): Show a0001c0001t0003 a0001c0002t0003 a0001c0003t0003 a0002c0004t0003 a0008c0011t0003 a0014c0038t0003 a0020c0039t0003 a0022c0030t0003	a0001c0001t0003g0191 a0001c0001t0003g0194 a0001c0001t0003g0249 others(15): Show a0001c0001t0003g0191 a0001c0001t0003g0194 a0001c0001t0003g0249 a0001c0001t0003g0363 a0001c0002t0003g0250 a0001c0002t0003g0284 a0001c0002t0003g0297 a0001c0002t0003g0359 a0001c0003t0003g0053 a0001c0003t0003g0325 a0001c0003t0003g0328 a0001c0003t0003g0341 a0002c0004t0003g0221 a0008c0011t0003g0050 a0008c0011t0003g0058 a0014c0038t0003g0357 a0020c0039t0003g0336 a0022c0030t0003g0361	18	370	0.0487	317	c.395 others(334): Show c.3952-807_3952-806insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGGGGCTTCCTCTTTTT	XDH	ENSG00000158125.10	transcript	ENST00000379416.4	protein_coding	35/35			chr2	TogoVar
ZBTB44_chr11_130221677_130319917	130319489	C C	CCTTTTTT others(310): Show CCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCGG TGGGCGATCTCAGCTCACTGAAAGCTCTGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCAACACA CCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTA GCCAGGGTGGTCTTGATCTCCTGACCTCGTGATCCGCCTGCCTCAGCCTC CTAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCTTCTTATTC CCCCTCCCCCCCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	290	0.0035	317	c.-51 others(328): Show c.-5172_-5171insAGGGGGGGGGGGGAGGGGGAATAAGAAGCCAGGC GTGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGCG GATCACGAGGTCAGGAGATCAAGACCACCCTGGCTAACATGGTGAAACCC CGTCTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGTTGGCGGGTGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCAGAGCTTTCAGTGAGCTGAGATCGCCCACCGCACTCCAGCCTGG GTGACAGAGCGAGACTCCGTCTCAAAAAAAAAG	ZBTB44	ENSG00000196323.14	transcript	ENST00000357899.9	protein_coding		4573		chr11	TogoVar
ZFYVE19_chr15_40802089_40820084	40808120	G G	GCAAAGCT others(310): Show GCAAAGCTACTCTTTAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTT TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGACTCACTGC AAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGTGT AGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00558.hp1 others(62): Show HG00099.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01123.hp1 HG01255.hp2 HG01361.hp1 HG01952.hp2 HG01975.hp1 HG02027.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02148.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02738.hp2 HG03017.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 NA18940.hp2 NA18944.hp1 NA18948.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19056.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19070.hp1 NA19080.hp1 NA20805.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0002c0016 a0002c0017 others(1): Show a0002c0002 a0002c0016 a0002c0017 a0008c0008	a0002c0002t0003 a0002c0002t0008 a0002c0002t0014 others(4): Show a0002c0002t0003 a0002c0002t0008 a0002c0002t0014 a0002c0002t0015 a0002c0016t0003 a0002c0017t0003 a0008c0008t0003	a0002c0002t0003g0002 a0002c0002t0003g0020 a0002c0002t0008g0019 others(5): Show a0002c0002t0003g0002 a0002c0002t0003g0020 a0002c0002t0008g0019 a0002c0002t0014g0002 a0002c0002t0015g0002 a0002c0016t0003g0002 a0002c0017t0003g0032 a0008c0008t0003g0002	65	382	0.1702	317	c.279 others(332): Show c.279+266_279+267insAATTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGACTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC TGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAAAGCTACTCTTT	ZFYVE19	ENSG00000166140.17	transcript	ENST00000355341.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZMYND12_chr1_42425329_42461022	42452987	C C	CAGAAAAA others(310): Show CAGAAAAAAACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCCTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG06807.hp1 HG06807.hp2 HG02622.hp2 HG06807.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173	3	390	0.0077	317	c.110 others(334): Show c.110+2900_110+2901insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCACCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTCAGTTTTTTTCT	ZMYND12	ENSG00000066185.13	transcript	ENST00000372565.8	protein_coding	1/7			chr1	TogoVar
ZNF207_chr17_32345157_32386885	32357181	T T	TAAAAAAA others(310): Show TAAAAAAAAAAAAAAAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA TTAGCCGGGCATGGTGGCGCACGCCTGTAGTCCCAGCTACACGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0266 a0001c0001t0009g0267 a0001c0001t0009g0266 a0001c0001t0009g0267	2	296	0.0068	317	c.169 others(334): Show c.169-1308_169-1307insAGTTGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCCGGGCATGGTGGCGCACGCCTGTAGTCCCAGCTACACG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ZNF207	ENSG00000010244.19	transcript	ENST00000394670.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ZNF236_chr18_76817557_76977901	76847096	A A	ACATCATT others(310): Show ACATCATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18974.hp1 NA19057.hp2 others(1): Show NA18967.hp2 NA18974.hp1 NA19057.hp2 NA19063.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0008 a0003c0008t0021 a0003c0008t0008 a0003c0008t0021	a0003c0008t0008g0311 a0003c0008t0008g0314 a0003c0008t0008g0315 others(1): Show a0003c0008t0008g0311 a0003c0008t0008g0314 a0003c0008t0008g0315 a0003c0008t0021g0310	4	346	0.0116	317	c.56- others(332): Show c.56-2419_56-2418insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCATCATTTTTC	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF28_chr19_52792408_52826633	52806580	T T	TAAAGAAC others(310): Show TAAAGAACTACAAGACAGGGCCAGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00621.hp2 others(54): Show HG00408.hp2 HG00423.hp2 HG00621.hp2 HG00639.hp2 HG01074.hp1 HG01123.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01884.hp1 HG01981.hp1 HG02074.hp1 HG02129.hp2 HG02148.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG03017.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18946.hp1 NA18952.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18975.hp1 NA18991.hp2 NA18999.hp2 NA19010.hp2 NA19062.hp2 NA19240.hp1 NA20905.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0004c0014 a0005c0005 a0004c0004 a0004c0014 a0005c0005	a0004c0004t0003 a0004c0004t0007 a0004c0004t0010 others(6): Show a0004c0004t0003 a0004c0004t0007 a0004c0004t0010 a0004c0004t0019 a0004c0004t0026 a0004c0004t0045 a0004c0004t0046 a0004c0014t0003 a0005c0005t0043	a0004c0004t0003g0001 a0004c0004t0003g0004 a0004c0004t0003g0005 others(37): Show a0004c0004t0003g0001 a0004c0004t0003g0004 a0004c0004t0003g0005 a0004c0004t0003g0028 a0004c0004t0003g0336 a0004c0004t0003g0337 a0004c0004t0003g0338 a0004c0004t0003g0339 a0004c0004t0003g0344 a0004c0004t0003g0345 a0004c0004t0003g0346 a0004c0004t0003g0347 a0004c0004t0003g0356 a0004c0004t0003g0357 a0004c0004t0003g0358 a0004c0004t0003g0359 a0004c0004t0003g0362 a0004c0004t0003g0363 a0004c0004t0007g0059 a0004c0004t0007g0116 a0004c0004t0007g0134 a0004c0004t0007g0174 a0004c0004t0007g0213 a0004c0004t0007g0239 a0004c0004t0007g0250 a0004c0004t0007g0252 a0004c0004t0007g0267 a0004c0004t0007g0288 a0004c0004t0007g0293 a0004c0004t0007g0298 a0004c0004t0010g0330 a0004c0004t0010g0353 a0004c0004t0010g0361 a0004c0004t0019g0010 a0004c0004t0026g0113 a0004c0004t0045g0349 a0004c0004t0046g0350 a0004c0014t0003g0335 a0004c0014t0003g0351 a0005c0005t0043g0341	57	422	0.1351	317	c.142 others(334): Show c.142+1426_142+1427insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCTGGCCCTGTCTTGTAGTTCTTT	ZNF28	ENSG00000198538.11	transcript	ENST00000457749.7	protein_coding	3/3			chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(310): Show CATCATATACATCATATACATCATATATGATATACATCATATACCACATA TATGATATACATCATATATCACACATATGATATACATCATATATCACACA TATGATATACATCATATATCACACATATGATATATATCATATATCACACA TATGATATATATCATATATCACACATATGATATATATCATATATCACACA TATGATATATATCATATATCACACATATGATATATATCATATATCACACA TATGATATATATATCACACATATGATATATATATCATACATATCATATAT ATCATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	350	0.0029	317	c.-36 others(328): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAC ATCATATACCACATATATGATATACATCATATATCACACATATGATATAC ATCATATATCACACATATGATATACATCATATATCACACATATGATATAT ATCATATATCACACATATGATATATATCATATATCACACATATGATATAT ATCATATATCACACATATGATATATATCATATATCACACATATGATATAT ATCATATATCACACATATGATATATATATCACACATATGATATATATATC ATACATATCATATATATCATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF407_chr18_74592870_75070671	74812027	T T	TAAAAATA others(310): Show TAAAAATAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGAGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAATAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0021 a0003c0005t0001g0021	1	92	0.0109	317	c.487 others(338): Show c.4877+30538_4877+30539insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAATTAGCCGGGAGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAATAAAAAAATAAAAAAA	ZNF407	ENSG00000215421.10	transcript	ENST00000299687.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF407_chr18_74592870_75070671	74812029	A A	AAAATAAA others(310): Show AAAATAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGC CGGGAGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0002 a0009c0022t0002	a0009c0022t0002g0007 a0009c0022t0002g0007	1	92	0.0109	317	c.487 others(338): Show c.4877+30538_4877+30539insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAATTAGCCGGGAGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATAAATAAAAAAA	ZNF407	ENSG00000215421.10	transcript	ENST00000299687.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF484_chr9_92839182_92883038	92853663	T T	TGATAACT others(310): Show TGATAACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCCCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0068 a0001c0001t0004g0068	1	402	0.0025	317	c.235 others(334): Show c.235+2147_235+2148insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTTATC	ZNF484	ENSG00000127081.14	transcript	ENST00000375495.8	protein_coding	4/4			chr9	TogoVar
ZNF486_chr19_20162214_20205488	20198932	T T	TAAAAAAA others(310): Show TAAAAAAAATTATACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0028 a0002c0003t0028	a0002c0003t0028g0006 a0002c0003t0028g0006	1	382	0.0026	317	c.84 others(326): Show c.844_*845insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAATTATAC	ZNF486	ENSG00000256229.8	transcript	ENST00000335117.9	protein_coding	4/4	845	INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF704_chr8_80623451_80879781	80855345	T T	TAAAAAAT others(310): Show TAAAAAATCTTTGCTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19030.hp2 HG02257.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0023 a0002c0002t0001 a0002c0002t0023	a0002c0002t0001g0034 a0002c0002t0023g0035 a0002c0002t0001g0034 a0002c0002t0023g0035	2	118	0.0170	317	c.-22 others(336): Show c.-22+19225_-22+19226insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGTGCCCGGCCAAGCAAAGATTTTTT	ZNF704	ENSG00000164684.13	transcript	ENST00000327835.7	protein_coding	1/8			chr8	TogoVar
ZNF737_chr19_20532992_20570781	20563166	A A	AAGTTTCC others(310): Show AAGTTTCCTTTCATCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCTTGCCTCAGCCTCCCGAGCA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGCATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG CGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(68): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01517.hp2 HG01981.hp2 HG02015.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG03017.hp1 HG03239.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18942.hp2 NA18943.hp1 NA18950.hp2 NA18953.hp1 NA18962.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18987.hp2 NA18989.hp2 NA18992.hp1 NA18995.hp2 NA19009.hp2 NA19011.hp2 NA19057.hp1 NA19065.hp2 NA19074.hp2 NA19078.hp2 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0012 a0016	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0006c0008 a0012c0020 a0016c0016	a0001c0002t0002 a0001c0002t0016 a0001c0002t0021 others(12): Show a0001c0002t0002 a0001c0002t0016 a0001c0002t0021 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0002t0044 a0001c0003t0039 a0002c0001t0004 a0002c0001t0015 a0002c0001t0020 a0006c0008t0002 a0012c0020t0002 a0016c0016t0002	a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0015 others(52): Show a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0015 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0217 a0001c0002t0002g0219 a0001c0002t0002g0221 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0236 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0250 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0016g0252 a0001c0002t0016g0257 a0001c0002t0016g0265 a0001c0002t0021g0220 a0001c0002t0021g0251 a0001c0002t0040g0249 a0001c0002t0041g0218 a0001c0002t0042g0253 a0001c0002t0043g0259 a0001c0002t0044g0273 a0001c0003t0039g0237 a0002c0001t0004g0035 a0002c0001t0015g0258 a0002c0001t0020g0241 a0002c0001t0020g0246 a0006c0008t0002g0028 a0006c0008t0002g0214 a0012c0020t0002g0264 a0016c0016t0002g0222	71	336	0.2113	317	c.3+2 others(330): Show c.3+2471_3+2472insGCCGGGCGCGGTGGCTCGCGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTG AGGCAAGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAGATGAAAGGAAACT	ZNF737	ENSG00000237440.9	transcript	ENST00000427401.9	protein_coding	1/3			chr19	TogoVar
ZNF737_chr19_20532992_20570781	20563166	A A	AAGTTTCC others(310): Show AAGTTTCCTTTCATCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCTTGCCTCAGCCTCCCGAGCA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGCATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0183 a0002c0001t0001g0183	1	336	0.0030	317	c.3+2 others(330): Show c.3+2471_3+2472insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTG AGGCAAGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAGATGAAAGGAAACT	ZNF737	ENSG00000237440.9	transcript	ENST00000427401.9	protein_coding	1/3			chr19	TogoVar
ZNF81_chrX_47831902_47930627	47848680	T T	TCAAAATC others(310): Show TCAAAATCCAAAACTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTT TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGTGT AGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTG ACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG03490.hp1 others(10): Show HG00597.hp1 HG00609.hp1 HG03490.hp1 NA18943.hp1 NA18951.hp2 NA18953.hp1 NA18970.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19009.hp1 NA19065.hp1 NA19068.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0010 a0001c0003 a0005c0010	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(2): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0018 a0005c0010t0003	a0001c0003t0001g0005 a0001c0003t0001g0112 a0001c0003t0001g0113 others(10): Show a0001c0003t0001g0005 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0002g0116 a0001c0003t0003g0005 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0018g0117 a0005c0010t0003g0120	13	227	0.0573	317	c.54+ others(332): Show c.54+2377_54+2378insTTTTTTTTTTTTTTTTTTTTGAGACGGAGT TTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGTG TAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCT GACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAAAATCCAAAACTTTTT	ZNF81	ENSG00000197779.15	transcript	ENST00000338637.13	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNG1B_chr2_113432691_113501204	113464501	G G	GAAAAGAA others(310): Show GAAAAGAATTTAACAGGTACGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp1 others(84): Show HG00140.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02165.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp1 HG02698.hp2 HG02717.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03239.hp2 HG03579.hp2 HG03669.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18941.hp1 NA18944.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19057.hp2 NA19063.hp2 NA19066.hp1 NA19089.hp2 NA19090.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0005 a0002c0002 a0006c0005	a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 others(2): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0006c0005t0002	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 others(74): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0205 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0005g0002 a0002c0002t0005g0189 a0002c0002t0005g0213 a0002c0002t0006g0020 a0002c0002t0006g0206 a0002c0002t0007g0019 a0006c0005t0002g0002	87	276	0.3152	317	c.663 others(332): Show c.663-609_663-608insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAGAATTTAACAGGTAC	ZNG1B	ENSG00000136682.16	transcript	ENST00000259199.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975362	T T	TATAAATA others(311): Show TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATA TAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0195 a0002c0004t0012g0195	1	306	0.0033	318	c.130 others(337): Show c.1308+1214_1308+1215insCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCT ATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABI1_chr10_26741596_26865958	26751417	G G	GAAAGAAT others(311): Show GAAAGAATCCCCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01361.hp1 HG02040.hp2 others(17): Show HG01346.hp1 HG01361.hp1 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02165.hp1 HG03490.hp2 HG03492.hp2 NA18946.hp1 NA18954.hp1 NA18956.hp1 NA18969.hp1 NA18971.hp1 NA18981.hp2 NA18984.hp2 NA18993.hp1 NA18997.hp1 NA19007.hp2 NA19083.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009	a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0334 others(17): Show a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0334 a0001c0001t0003g0338 a0001c0001t0005g0276 a0001c0001t0005g0319 a0001c0001t0005g0322 a0001c0001t0005g0323 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0001t0005g0332 a0001c0001t0005g0342 a0001c0001t0005g0343 a0001c0001t0005g0354 a0001c0001t0009g0336 a0001c0001t0009g0337	20	358	0.0559	318	c.127 others(335): Show c.1270+180_1270+181insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCAGGGGGATTCTTT	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	10/10			chr10	TogoVar
ABR_chr17_998519_1184981	1117700	C C	CCCAGCGT others(311): Show CCCAGCGTTATCCCTGAGCCTGAGTCCTTCCCAGCTTTATCCCTGAGCCT GAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAACC CTGAGCCTGAGTTCTTCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAG CGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTT CCTCCCAGCGTTATCCCTGAGCCTGAGTCCTTCCCAGCGTTATCGCTGAG CCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTTCCCAGCGTTA TCCCTGAGCCTGAGTTCCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0035 a0001c0001t0023g0035	1	337	0.0030	318	c.246 others(335): Show c.246+7482_246+7483insAGGAACTCAGGCTCAGGGATAACGCTGG GAAGGACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGCGAT AACGCTGGGAAGGACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGC TCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGA ACTCAGGCTCAGGGTTAACGCTGGGAAGAACTCAGGCTCAGGGTTAACGC TGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCAGG GATAAAGCTGGGAAGGACTCAGGCTCAGGGATAACGCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1159367	G G	GGAGAAGT others(311): Show GGAGAAGTAAGAATGCGGTACTCACACACAAGGGAAGTATGCGGTACTCA CACACAGGAGAAGTAAGAATGCGGTACTCACACACGGGAGAAGTAGGAAT GCGGTACTCACACACAGGAGAAGTAAGAATGCGGTACTCACACACAAGGG AAGTATGCGGTACTCACACACAGGAGAAGTAAGAATGCGGTACTCACACA CAAGGGAAGTATGCGGTACTCACACACAGGAGAAGTAAGAATGCGGTACT CACACACGGGAGAAGTAGGAATGCGGTACTCACACACGGGAGAAGTAGGA ATGCGGTACTCACACACAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00544.hp2 others(52): Show HG00280.hp2 HG00323.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG01099.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01361.hp1 HG01496.hp2 HG01934.hp2 HG01943.hp1 HG02040.hp1 HG02055.hp1 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02300.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19063.hp2 NA19081.hp2 NA19090.hp1 NA20129.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0029 a0001c0001t0035 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0066 a0001c0001t0071 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0002t0001 a0001c0002t0007 a0001c0002t0042 a0001c0002t0060 a0001c0002t0085 a0001c0003t0016 a0001c0003t0021 a0001c0003t0052 a0005c0008t0020	a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0178 others(52): Show a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0178 a0001c0001t0001g0191 a0001c0001t0002g0081 a0001c0001t0002g0138 a0001c0001t0002g0151 a0001c0001t0002g0179 a0001c0001t0003g0129 a0001c0001t0003g0207 a0001c0001t0004g0250 a0001c0001t0004g0256 a0001c0001t0004g0268 a0001c0001t0004g0313 a0001c0001t0004g0332 a0001c0001t0005g0269 a0001c0001t0005g0279 a0001c0001t0005g0283 a0001c0001t0005g0320 a0001c0001t0006g0075 a0001c0001t0006g0086 a0001c0001t0006g0096 a0001c0001t0007g0281 a0001c0001t0007g0326 a0001c0001t0008g0007 a0001c0001t0008g0012 a0001c0001t0008g0033 a0001c0001t0009g0018 a0001c0001t0009g0032 a0001c0001t0010g0310 a0001c0001t0010g0314 a0001c0001t0013g0028 a0001c0001t0014g0242 a0001c0001t0017g0113 a0001c0001t0017g0225 a0001c0001t0018g0111 a0001c0001t0029g0177 a0001c0001t0035g0014 a0001c0001t0040g0002 a0001c0001t0041g0015 a0001c0001t0043g0008 a0001c0001t0066g0236 a0001c0001t0071g0185 a0001c0001t0089g0331 a0001c0001t0090g0301 a0001c0001t0091g0286 a0001c0002t0001g0110 a0001c0002t0007g0295 a0001c0002t0042g0016 a0001c0002t0060g0234 a0001c0002t0085g0328 a0001c0003t0016g0229 a0001c0003t0021g0276 a0001c0003t0052g0220 a0005c0008t0020g0132	55	337	0.1632	318	c.61+ others(335): Show c.61+20299_61+20300insATGTGTGTGAGTACCGCATTCCTACTTC TCCCGTGTGTGAGTACCGCATTCCTACTTCTCCCGTGTGTGAGTACCGCA TTCTTACTTCTCCTGTGTGTGAGTACCGCATACTTCCCTTGTGTGTGAGT ACCGCATTCTTACTTCTCCTGTGTGTGAGTACCGCATACTTCCCTTGTGT GTGAGTACCGCATTCTTACTTCTCCTGTGTGTGAGTACCGCATTCCTACT TCTCCCGTGTGTGAGTACCGCATTCTTACTTCTCCTGTGTGTGAGTACCG CATACTTCCCTTGTGTGTGAGTACCGCATTCTTACTTCTC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288793	C C	CCGTGTCT others(311): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	295	0.0034	318	c.47 others(329): Show c.4770_*4771insACGGGGCAGAGACACGGGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGG GGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGGGCAGAGA CACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAG CAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGAC GGGGCAGAGACACGGGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3597		chr1	TogoVar

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