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
TTLL8_chr22_50013575_50063298	50028908	C C	CCCCATCA others(167): Show CCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATC ACACCGTCCTAAAGACCCCCACATACCCTCGTAAAGACCCCATCACACCG TCCTGAAGACCCCACACACCCTCGTAAAGACCCCCATCACACCATCCTAA AGACCCCCACACACACTCGTAAAGA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0174 a0002c0002t0001g0174	1	224	0.0045	174	c.225 others(193): Show c.2251+1521_2251+1522insTCTTTACGAGTGTGTGTGGGGGTCTT TAGGATGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGAC GGTGTGATGGGGTCTTTACGAGGGTATGTGGGGGTCTTTAGGACGGTGTG ATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TYMS_chr18_652653_678578	666963	A A	AGATGGTG others(167): Show AGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTG ATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGTGATGGTGAT GGAGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGG AGATGGTGATGGTGATGGAGATGGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0214 a0001c0001t0007g0214	1	482	0.0021	174	c.455 others(191): Show c.455-2098_455-2097insTGATGGAGATGGTGATGGTGATGGAGAT GGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGG TGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTG ATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CACATATA others(167): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATATG TGTGTGTATACGCATACACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	320	0.0031	174	c.-38 others(185): Show c.-3864_-3863insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTGTATACGCATACACACATAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CACATATA others(167): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	320	0.0031	174	c.-38 others(185): Show c.-3864_-3863insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar
UCN3_chr10_5359966_5379692	5369903	G G	GTGTGTGT others(167): Show GTGTGTGTGTATGTGTGTGTGTGTATATGTGTGTGTGTATGTGTGTGTGT GTATATGTGTGTATATGTGTGTGTATGTGTGTATATGTGTGTGTGTATAT GTGCGTGTATATGTGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTGT ATGTGTGTGTGTATGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0184 a0001c0002t0002g0184	1	468	0.0021	174	c.-6- others(189): Show c.-6-3801_-6-3800insGTGTGTGTGTGTATATGTGTGTGTGTATGT GTGTGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGTATATGTGTGT GTGTATATGTGCGTGTATATGTGTGTGTATGTGTGTATGTGTGTGTATAT GTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGTGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370051	G G	GTATATGC others(167): Show GTATATGCGTGTATATGTGTGTGTATATGTGTGTGTGTGTATATGTGCGT GTATGTGTGCGTGTGTATATGTGCGTGTATGTGTGTGTGTATATGTGTGT GTATATGTGTGTGTATATGTGTGTGTGTATGTGTGTGTGTGTATGTGTGT GTGTATGTGTGTGTATGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18989.hp2 NA18956.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0012 a0001c0002t0004 a0001c0002t0012	a0001c0002t0004g0261 a0001c0002t0012g0215 a0001c0002t0004g0261 a0001c0002t0012g0215	2	468	0.0043	174	c.-6- others(189): Show c.-6-3661_-6-3660insATGCGTGTATATGTGTGTGTATATGTGTGT GTGTGTATATGTGCGTGTATGTGTGCGTGTGTATATGTGCGTGTATGTGT GTGTGTATATGTGTGTGTATATGTGTGTGTATATGTGTGTGTGTATGTGT GTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC80_chr2_209766832_210004296	209903533	T T	TTATATAT others(167): Show TTATATATAGTATATATGTAATATATATACTATATATAGTATATATGTAA TATATATACTATATATAGTATATATGTAATATATATATACTATATATAGT ATATATGTAATATATATACTATATATAGTATATATGTAATATATACTATA TATAGTATATATGTAATATATATAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0072 a0002c0033t0001g0072	1	188	0.0053	174	c.458 others(193): Show c.4582-1204_4582-1203insCTATATATAGTATATATGTAATATAT ATACTATATATAGTATATATGTAATATATATATACTATATATAGTATATA TGTAATATATATACTATATATAGTATATATGTAATATATACTATATATAG TATATATGTAATATATATACTATATATAGTATATATGTAATATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX2_chrX_8164944_8176267	8169221	C C	CCACACAC others(167): Show CCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTC CCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACA CCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCC ACACACCTCTTCCTCCCTCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0018 a0005c0006t0001g0018	1	115	0.0087	174	c.81 others(183): Show c.810_*811insAGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		722		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467370	A A	AGGGAGGG others(167): Show AGGGAGGGAGGAGAAGAGGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTCTGTGTGGGAGGGAGGAGGAAGAGGTGGTGTGTGGAGGAGGGAGGGAG GGAAGAGGGGGTGTGTGGCGGAGGGAGGGGAGGAAGGGGAAAGAGTGTGT GGGAGGGAGGCGGCCGAGTGTGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	271	0.0037	174	c.98 others(183): Show c.987_*988insGGGAGGGAGGAGAAGAGGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTCTGTGTGGGAGGGAGGAGGAAGAGGTGGTGTGTGG AGGAGGGAGGGAGGGAAGAGGGGGTGTGTGGCGGAGGGAGGGGAGGAAGG GGAAAGAGTGTGTGGGAGGGAGGCGGCCGAGTGTGTGG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		861		chrX	TogoVar
VPS8_chr3_184807166_185057604	184895614	C C	CCCCCCCT others(167): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18522.hp1 HG02257.hp1 NA18522.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0037 a0006c0007t0001g0038 a0006c0007t0001g0037 a0006c0007t0001g0038	2	274	0.0073	174	c.200 others(191): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895614	C C	CCCCCCCT others(167): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA21309.hp1 HG02559.hp1 NA21309.hp1	a0005 a0005	a0005c0026 a0005c0028 a0005c0026 a0005c0028	a0005c0026t0004 a0005c0028t0004 a0005c0026t0004 a0005c0028t0004	a0005c0026t0004g0155 a0005c0028t0004g0154 a0005c0026t0004g0155 a0005c0028t0004g0154	2	274	0.0073	174	c.200 others(191): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895614	C C	CCCCCCCT others(167): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0066 a0003c0004t0001g0066	1	274	0.0037	174	c.200 others(191): Show c.2004+709_2004+710insTCCTCCTCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895614	C C	CCCCCCCT others(167): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCTGCTCCT CCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03139.hp2 HG02970.hp2 HG03139.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0054 a0003c0005t0001g0055 a0003c0005t0001g0054 a0003c0005t0001g0055	2	274	0.0073	174	c.200 others(191): Show c.2004+709_2004+710insTCCTCCTCCCCCCTCCTCCTCCTGCTCC TCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895629	C C	CCCCCCTC others(167): Show CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCC TCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0232 a0002c0002t0001g0232	1	274	0.0037	174	c.200 others(191): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895635	C C	CTCCTCCT others(167): Show CTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCC TCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCC TCCTCCCCCCTCCTCCTCCCCCCCT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0013 a0003c0004t0005g0013	1	274	0.0037	174	c.200 others(191): Show c.2004+710_2004+711insTCCTCCTCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCT	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47			chr3	TogoVar
WDPCP_chr2_63114559_63593477	63575461	A A	ATATACAC others(167): Show ATATACACTGTATATACCGTGTATACACTGTATATACAGTATATATACTG TATATACAGTGTATGCACTGTATATACAGTATATACAGTATATACAGTGT ATGCACTGTATATACAGTATATACAGTGTATGCACTGTATATACAGTATA TACAGTGTATGCACTGTATATACAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0053 a0001c0001t0006g0053	1	216	0.0046	174	c.75+ others(191): Show c.75+12735_75+12736insCTGTATATACAGTGCATACACTGTATAT ACTGTATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACA CTGTATATACTGTATATACTGTATATACAGTGCATACACTGTATATACAG TATATATACTGTATATACAGTGTATACACGGTATATACAGTGTATA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTGCATAC others(167): Show GTGCATACACTGTATATACAGTATATATACTGTATATACAGTGTATGCAC TGTATATACAGTATATACAGTATATACAGTGTATGCACTGTATATACAGT ATATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTA TATACAGTATATACAGTGTATGCAC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0062 a0001c0001t0004g0062	1	216	0.0046	174	c.75+ others(191): Show c.75+12717_75+12718insGTGCATACACTGTATATACTGTATATAC AGTGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACT GTATATACAGTGCATACACTGTATATACTGTATATACTGTATATACAGTG CATACACTGTATATACAGTATATATACTGTATATACAGTGTATGCA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTGTATAC others(167): Show GTGTATACACTGTATATACAGTATATATACTGTATATACAGTGTATGCAC TGTATATACAGTATATACAGTATATACAGTGTATGCACTGTATATACAGT ATATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTA TATACAGTATATACAGTGTATGCAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01496.hp2 HG03130.hp1 others(4): Show HG01192.hp1 HG01496.hp2 HG03130.hp1 NA18952.hp1 NA18999.hp1 NA19079.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0031	a0001c0001t0001g0043 a0001c0001t0001g0055 a0001c0001t0004g0083 others(4): Show a0001c0001t0001g0043 a0001c0001t0001g0055 a0001c0001t0004g0083 a0001c0001t0006g0054 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0031g0209	7	216	0.0324	174	c.75+ others(191): Show c.75+12717_75+12718insGTGCATACACTGTATATACTGTATATAC AGTGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACT GTATATACAGTGCATACACTGTATATACTGTATATACTGTATATACAGTG CATACACTGTATATACAGTATATATACTGTATATACAGTGTATACA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTGTATAC others(167): Show GTGTATACACTGTATATACAGTATATATACTGTATATACAGTGTATGCAC TGTATATACAGTATATACAGTATATACAGTGTGTGCACTGTATATACAGT ATATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTA TATACAGTATATACAGTGTATGCAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	216	0.0046	174	c.75+ others(191): Show c.75+12717_75+12718insGTGCATACACTGTATATACTGTATATAC AGTGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACT GTATATACAGTGCACACACTGTATATACTGTATATACTGTATATACAGTG CATACACTGTATATACAGTATATATACTGTATATACAGTGTATACA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(167): Show ATATATAATATATATATATAATATATATATATATAATATATATATATAAT ATATATATATAATATATATATATAATATATATATATATAATATATATATT ATATATATATTATATATATATAATATATATTATATATATATAATATATAT ATTATATATATATAATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	330	0.0030	174	c.38 others(185): Show c.3884_*3885insAATATATATATTATATATATATAATATATATATT ATATATATATAATATATATTATATATATATAATATATATATAATATATAT ATTATATATATATATATTATATATATATATTATATATATATATTATATAT ATATATTATATATATATATATTATATATATATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
ZBTB34_chr9_126855639_126890878	126876060	A A	AGGAGGTG others(167): Show AGGAGGTGAGGAAAGTGTTGCTCCAGGGAACACTCATTCTTGGGAATATT AATATGTGTACCTTGAGAGAACAGTTCCACCATTAAATGAGTTTGCAAAC TGCTGAGTTAAGCAGGATTCTTGTCGCAGGACTTTTCTGATGGGATATTA TGCTAATGTGTGTTTTAATCCCTAG	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	246	0.0041	174	c.-10 others(191): Show c.-10-3319_-10-3318insAAGTGTTGCTCCAGGGAACACTCATTCT TGGGAATATTAATATGTGTACCTTGAGAGAACAGTTCCACCATTAAATGA GTTTGCAAACTGCTGAGTTAAGCAGGATTCTTGTCGCAGGACTTTTCTGA TGGGATATTATGCTAATGTGTGTTTTAATCCCTAGGGAGGTGAGGA	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZC3H12B_chrX_65029826_65512887	65450737	A A	ATATATAC others(167): Show ATATATACACATATGTGTATATATACACATATGTGTATATATGTATATAT ACACATATGTGTATATATACACATATGTGTATATATGTATATATACACAT ATGTGTATATATACACATATGTGTATATATGTATATATACACATATGTGT ATATATACACATATGTGTATATATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0127 a0001c0001t0017g0127	1	165	0.0061	174	c.-15 others(195): Show c.-156-37903_-156-37902insCACATATGTGTATATATACACATA TGTGTATATATGTATATATACACATATGTGTATATATACACATATGTGTA TATATGTATATATACACATATGTGTATATATACACATATGTGTATATATG TATATATACACATATGTGTATATATACACATATGTGTATATATGTATATA	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF117_chr7_64966772_64996036	64967833	C C	CAGAGGGG others(167): Show CAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACCGGCGGCTGGCCGGGCGGGGGGCTGACCTCTCCGCCTCC CTCCTGGATGGGGCGGCTGGCCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0214 a0002c0002t0005g0214	1	444	0.0023	174	c.10 others(187): Show c.10285_*10286insCCCGGCCAGCCGCCCCATCCAGGAGGGAGGCG GAGAGGTCAGCCCCCCGCCCGGCCAGCCGCCGGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCT	ZNF117	ENSG00000152926.16	transcript	ENST00000282869.11	protein_coding		3938		chr7	TogoVar
ZNF117_chr7_64966772_64996036	64968151	C C	CACCTCCC others(167): Show CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCTCCCCA CCTCCCTCCCGGACAGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCAGCCGGGCAGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG03225.hp1 others(1): Show HG02109.hp1 HG02647.hp2 HG03225.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0021 a0001c0001t0010g0069 a0001c0001t0010g0021 a0001c0001t0010g0069	4	444	0.0090	174	c.99 others(185): Show c.9967_*9968insCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCACCCTGTCCGGGAGGGAGGTGGGGAGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	ZNF117	ENSG00000152926.16	transcript	ENST00000282869.11	protein_coding		3620		chr7	TogoVar
ZNF30_chr19_34921903_34950168	34923077	A A	ATATATAA others(167): Show ATATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 NA19079.hp2 HG00741.hp1 NA19079.hp2	a0003 a0008 a0003 a0008	a0003c0003 a0008c0009 a0003c0003 a0008c0009	a0003c0003t0002 a0008c0009t0009 a0003c0003t0002 a0008c0009t0009	a0003c0003t0002g0022 a0008c0009t0009g0228 a0003c0003t0002g0022 a0008c0009t0009g0228	2	412	0.0049	174	c.-42 others(185): Show c.-4204_-4203insTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTG	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3825		chr19	TogoVar
ZNF430_chr19_21015657_21065050	21019661	A A	AATATATA others(167): Show AATATATAAATATATATAAAAATATATATAAATATATAAATATATATAAA TATATATAAATATATAAATATATATATATAAATATATATAAATATATATA AATATATAAATATATATATATAAATATATATAAATATATAAATATATATA TAAATATATATAAATATAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 NA19043.hp1 HG03942.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0220 a0001c0001t0001g0005 a0001c0001t0001g0220	2	298	0.0067	174	c.-11 others(185): Show c.-1140_-1139insATATATAAATATATATAAAAATATATATAAATAT ATAAATATATATAAATATATATAAATATATAAATATATATATATAAATAT ATATAAATATATATAAATATATAAATATATATATATAAATATATATAAAT ATATAAATATATATATAAATATATATAAATATAAATATAT	ZNF430	ENSG00000118620.13	transcript	ENST00000261560.10	protein_coding		995		chr19	TogoVar
ZNF430_chr19_21015657_21065050	21019661	A A	AATATATA others(167): Show AATATATAAATATATATATAAATATATATAAATATATAAATATATATATA TAAATATATATAAATATATATAAATATATAAATATATATATAAATATATA TAAATATATAAATATATATATAAATATATATAAATATATAAATATATATA TAAATATATATAAATATAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	298	0.0034	174	c.-11 others(185): Show c.-1140_-1139insATATATAAATATATATATAAATATATATAAATAT ATAAATATATATATATAAATATATATAAATATATATAAATATATAAATAT ATATATAAATATATATAAATATATAAATATATATATAAATATATATAAAT ATATAAATATATATATAAATATATATAAATATAAATATAT	ZNF430	ENSG00000118620.13	transcript	ENST00000261560.10	protein_coding		995		chr19	TogoVar
ZNF511_chr10_133303914_133318161	133316676	C C	CCCCCCCC others(167): Show CCCCCCCCCCCCCACACACACACACAAACAGATGGAAAGACTGCACCCTG CCACAGGACACAGAGATGGAAAGACCACACCCACCCCCCAGACACAGAGA TGGAAAGACCACCCCCGCAAGACACAGAGATGGAAAGACCATACCCCCCC AGGACACAGCGATGGAAAGACCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	282	0.0036	174	c.38 others(185): Show c.3810_*3811insCCCCCCCCCCCCACACACACACACAAACAGATGG AAAGACTGCACCCTGCCACAGGACACAGAGATGGAAAGACCACACCCACC CCCCAGACACAGAGATGGAAAGACCACCCCCGCAAGACACAGAGATGGAA AGACCATACCCCCCCAGGACACAGCGATGGAAAGACCACA	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		3516		chr10	TogoVar
ZNF512B_chr20_63951704_63974930	63970942	C C	CCTTCCTT others(167): Show CCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCT CCCTTCCTTCTCTTCCTTCCCTTCCCTTCCTCCCTCCCTTCTTCCTTCCT TTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCC TCCCTCCCTACCCTCCCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	356	0.0028	174	c.-11 others(185): Show c.-1132_-1131insAGAAGGAAGGGAGGGTAGGGAGGGAGGGAAGAGA AGAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAA GAAGGGAGGGAGGAAGGGAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGA GGGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAG	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding		1013		chr20	TogoVar
ZNF543_chr19_57315472_57335770	57319245	C C	CATATACA others(167): Show CATATACATACATATATACATATACATACATATACATACATATACATACA TACATACATATACATACATATACATACATATACATACATATACATACATA TACATACATATACATACATGTATATACATATACATACATATATATACATA TATATACACATACATATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0008 a0008c0013t0043 a0008c0013t0008 a0008c0013t0043	a0008c0013t0008g0028 a0008c0013t0043g0028 a0008c0013t0008g0028 a0008c0013t0043g0028	2	460	0.0044	174	c.-16 others(185): Show c.-1609_-1608insATATACATACATATATACATATACATACATATAC ATACATATACATACATACATACATATACATACATATACATACATATACAT ACATATACATACATATACATACATATACATACATGTATATACATATACAT ACATATATATACATATATATACACATACATATATATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1226		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319265	T T	TATATATA others(167): Show TATATATACATATATACATATACATACATATATATACATACATACATATA CATACATATATATATACATACATACATATACATACATATATATACATATA TATACATATACATACATATATATACATATATATACATATACATACATATA TATACATATATATACATATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0053 a0005c0005t0005g0053	1	460	0.0022	174	c.-15 others(185): Show c.-1589_-1588insATATATACATATATACATATACATACATATATAT ACATACATACATATACATACATATATATATACATACATACATATACATAC ATATATATACATATATATACATATACATACATATATATACATATATATAC ATATACATACATATATATACATATATATACATATACATAC	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1206		chr19	TogoVar
ZNF587B_chr19_57825299_57851238	57827308	C C	CACAAAAA others(167): Show CACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02258.hp1 HG03471.hp1 HG01109.hp1 HG02258.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0027 a0001c0004t0013 a0001c0001t0027 a0001c0004t0013	a0001c0001t0027g0058 a0001c0004t0013g0178 a0001c0001t0027g0058 a0001c0004t0013g0178	3	432	0.0069	174	c.-32 others(185): Show c.-3221_-3220insACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGC CTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGTACTCCAGCCT GGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA	ZNF587B	ENSG00000269343.9	transcript	ENST00000594901.2	protein_coding		2990		chr19	TogoVar
ZNF681_chr19_23734195_23763891	23761923	T T	TCCTTCCT others(167): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	394	0.0025	174	c.-31 others(185): Show c.-3175_-3174insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3033		chr19	TogoVar
ABCC2_chr10_99777640_99857594	99839459	G G	GGGGGGCC others(168): Show GGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGCCGGCTGGCCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACAGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	336	0.0030	175	c.361 others(194): Show c.3615-2503_3615-2502insCCAACCCCCCCACCTCCCTCCCGGAC GGGCCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCCGGGCGGGGG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABR_chr17_998519_1184981	1118651	G G	GTTCCTCC others(168): Show GTTCCTCCCAGCATTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCCCT GAGCCCGAGTTCCTCCCAGCATTATCCCTGAGCCCGAGTTCCTCCCAGCG TTATCCCTGAGCCCGAGTTCCTCCCAGCATTATCCCTGAGCCCGAGTTCC TCCCAGCGTTATCCCTGAGCCCGAGT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	337	0.0030	175	c.246 others(192): Show c.246+6531_246+6532insACTCGGGCTCAGGGATAACGCTGGGAGG AACTCGGGCTCAGGGATAATGCTGGGAGGAACTCGGGCTCAGGGATAACG CTGGGAGGAACTCGGGCTCAGGGATAATGCTGGGAGGAACTCGGGCTCAG GGATAACGCTGGGAGGAACTCGGGTTCAGGGATAATGCTGGGAGGAA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118651	G G	GTTCCTCC others(168): Show GTTCCTCCCAGCATTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCCCT GAGCCCGAGTTCCTCCCAGCATTATCCCTGAGCCCGAGTTCCTCCCAGCG TTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCC TCCCAGCGTTATCCCTGAGCCCGAGT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0316 a0001c0001t0004g0316	1	337	0.0030	175	c.246 others(192): Show c.246+6531_246+6532insACTCGGGCTCAGGGATAACGCTGGGAGG AACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACG CTGGGAGGAACTCGGGCTCAGGGATAATGCTGGGAGGAACTCGGGCTCAG GGATAACGCTGGGAGGAACTCGGGTTCAGGGATAATGCTGGGAGGAA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118651	G G	GTTCCTCC others(168): Show GTTCCTCCCAGCATTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCCCT GAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCG TTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCC TCCCAGCGTTATCCCTGAGCCCGAGT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	337	0.0030	175	c.246 others(192): Show c.246+6531_246+6532insACTCGGGCTCAGGGATAACGCTGGGAGG AACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACG CTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAG GGATAACGCTGGGAGGAACTCGGGTTCAGGGATAATGCTGGGAGGAA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118651	G G	GTTCCTCC others(168): Show GTTCCTCCCAGCGTTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCCCT GAGCCCGAGTTCCTCCCAGCGTTATCCCGGAGCCCGAGTTCCTCCCAGCG TTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCC TCCCAGCGTTATCCCTGAGCCCGAGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0067 a0001c0001t0077g0067	1	337	0.0030	175	c.246 others(192): Show c.246+6531_246+6532insACTCGGGCTCAGGGATAACGCTGGGAGG AACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACG CTGGGAGGAACTCGGGCTCCGGGATAACGCTGGGAGGAACTCGGGCTCAG GGATAACGCTGGGAGGAACTCGGGTTCAGGGATAACGCTGGGAGGAA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118651	G G	GTTCCTCC others(168): Show GTTCCTCCCAGCGTTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCCCT GAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCA TTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCC TCCCAGCGTTATCCCTGAGCCCGAGT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	337	0.0030	175	c.246 others(192): Show c.246+6531_246+6532insACTCGGGCTCAGGGATAACGCTGGGAGG AACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAATG CTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAG GGATAACGCTGGGAGGAACTCGGGTTCAGGGATAACGCTGGGAGGAA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118651	G G	GTTCCTCC others(168): Show GTTCCTCCCAGCGTTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCCCT GAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCG TTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCC TCCCAGCGTTATCCCTGAGCCCGAGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00621.hp2 others(15): Show HG00140.hp2 HG00544.hp1 HG00621.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01169.hp2 HG01433.hp1 HG01928.hp1 HG02083.hp1 HG02155.hp2 HG03490.hp2 HG03579.hp1 NA19005.hp2 NA19060.hp1 NA19060.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0041 a0001c0001t0049 a0001c0001t0087 a0001c0002t0001	a0001c0001t0001g0061 a0001c0001t0001g0083 a0001c0001t0001g0158 others(15): Show a0001c0001t0001g0061 a0001c0001t0001g0083 a0001c0001t0001g0158 a0001c0001t0001g0196 a0001c0001t0002g0182 a0001c0001t0003g0072 a0001c0001t0003g0117 a0001c0001t0003g0200 a0001c0001t0003g0217 a0001c0001t0004g0250 a0001c0001t0005g0266 a0001c0001t0008g0042 a0001c0001t0009g0050 a0001c0001t0041g0015 a0001c0001t0049g0193 a0001c0001t0087g0311 a0001c0002t0001g0051 a0001c0002t0001g0052	18	337	0.0534	175	c.246 others(192): Show c.246+6531_246+6532insACTCGGGCTCAGGGATAACGCTGGGAGG AACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACG CTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAG GGATAACGCTGGGAGGAACTCGGGTTCAGGGATAACGCTGGGAGGAA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153445	G G	GTCCAGGC others(168): Show GTCCAGGCACACCTGCGGGGAGGGCTGGGGACCCAGGCACACCTGCGGGA GGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCACAC CTACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCC AGGCACACCTGCGGGAGGGCTGGGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0306 a0001c0001t0007g0306	1	337	0.0030	175	c.61+ others(192): Show c.61+26221_61+26222insTCCCCAGCCCTCCCGCAGGTGTGCCTGG ACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGT GTGCCTGGACCCCCAGCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCCTC CCGCAGGTGTGCCTGGGTCCCCAGCCCTCCCCGCAGGTGTGCCTGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153519	G G	GGGGAGGG others(168): Show GGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGG CACACCTACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGG GGTCCAGGCACACCTGCGGGGAGGGCTGGGGACCCAGGCACACCTGCGGG AGGGCTGGGGGTCCAGGCACACCTGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0018 a0001c0013t0018	a0001c0013t0018g0108 a0001c0013t0018g0108	1	337	0.0030	175	c.61+ others(192): Show c.61+26147_61+26148insGCAGGTGTGCCTGGACCCCCAGCCCTCC CGCAGGTGTGCCTGGGTCCCCAGCCCTCCCCGCAGGTGTGCCTGGACCCC CAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTGCC TGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153548	C C	CGGGAGGG others(168): Show CGGGAGGGCTAGGGATCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGG CACACCTACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTAGG GATCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGA GGGCTGGGGGTCCAGGCACACCTGCG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0266 a0001c0001t0005g0266	1	337	0.0030	175	c.61+ others(192): Show c.61+26118_61+26119insCGCAGGTGTGCCTGGACCCCCAGCCCTC CCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATCCC TAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTGCC TGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATCCCTAGCCCTCCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153563	T T	TCCAGGCA others(168): Show TCCAGGCACACCTGCGGGAGGGCTAGGGATCCAGGCACACCTGCGGGAGG GCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCACACCT GCGGGGAGGGCTGGGGACCCAGGCACACCTGCGGGAGGGCTGGGGGTCCA GGCACACCTGCGGGAGGGCTGGGGAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0054 a0001c0003t0054	a0001c0003t0054g0231 a0001c0003t0054g0231	1	337	0.0030	175	c.61+ others(192): Show c.61+26103_61+26104insGTCCCCAGCCCTCCCGCAGGTGTGCCTG GACCCCCAGCCCTCCCGCAGGTGTGCCTGGGTCCCCAGCCCTCCCCGCAG GTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCC TCCCGCAGGTGTGCCTGGATCCCTAGCCCTCCCGCAGGTGTGCCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACTN4_chr19_38642649_38736589	38735937	G G	GGGGGCGG others(168): Show GGGGGCGGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGCGGGGCGGGCGG GGCGGGCGGGGCGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGCGGGGCG GGGCGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGG GCGGGGCGGGGCGGGGCGGGCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0047 a0001c0006t0047	a0001c0006t0047g0239 a0001c0006t0047g0239	1	314	0.0032	175	c.65 others(186): Show c.6505_*6506insGGGGCGGGGCGGGGCGGGGCGGGCGGGGCGGGGC GGGCGGGGCGGGCGGGGCGGGCGGGGCGGGCGGGGCGGGCGGGGCGGGGC GGGGCGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGG GGCGGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGCGGGGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4349		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735937	G G	GGGGGCGG others(168): Show GGGGGCGGGGCGGGGCGGGGGCGGGCGGGGCGGGGCGGGCGGGGCGGGCG GGGCGGGCGGGGCGGGCGGGGCGGGCGGGGCGGGCGGGGCGGGGCGGGGC GGGCGGGGGCGGGGCGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGGCGG GCGGGGCGGGGCGGGGCGGGCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0236 a0001c0004t0013g0236	1	314	0.0032	175	c.65 others(186): Show c.6505_*6506insGGGGCGGGGCGGGGCGGGGGCGGGCGGGGCGGGG CGGGCGGGGCGGGCGGGGCGGGCGGGGCGGGCGGGGCGGGCGGGGCGGGC GGGGCGGGGCGGGGCGGGCGGGGGCGGGGCGGGCGGGGCGGGCGGGGCGG GGCGGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGCGGGGT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4349		chr19	TogoVar
ADAMTS12_chr5_33518535_33896990	33848958	C C	CTATATAT others(168): Show CTATATATATGTATTGCATAGCAATATATATATATGTATTGCATAGCAAT ATATATATATGTATTGCATAGCAATATATATATATGTATTGCATAGCAAT ATATATATATGTATTGCATAGCAATATATATATATGTATTGCATAGCAAT ATATATATATGTATTGCATAGCAATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	224	0.0045	175	c.489 others(194): Show c.489+32160_489+32161insTATTGCTATGCAATACATATATATAT ATTGCTATGCAATACATATATATATATTGCTATGCAATACATATATATAT ATTGCTATGCAATACATATATATATATTGCTATGCAATACATATATATAT ATTGCTATGCAATACATATATATATATTGCTATGCAATACATATATATA	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72400327	T T	TATATACA others(168): Show TATATACACACGGTGTGTATATATACATGTGCATAGATATACACACGGTG TGTATATATACGTGTGCATAGATATACACACGGTGTGTATATATACGTGT GCATAGATATACACACGGTGTGTATATATACGTGTGCATAGATATACACA CGGTGTGTATATATACGTGTGCATAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0134 a0002c0002t0001g0134	1	182	0.0055	175	c.661 others(194): Show c.661+14487_661+14488insCTATGCACACGTATATATACACACCG TGTGTATATCTATGCACACGTATATATACACACCGTGTGTATATCTATGC ACACGTATATATACACACCGTGTGTATATCTATGCACACGTATATATACA CACCGTGTGTATATCTATGCACATGTATATATACACACCGTGTGTATAT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72400327	T T	TATATACA others(168): Show TATATACACACGGTGTGTATATATACGTGTGCATAGATATACACACGGTG TGTATATATACGTGTGCATAGATATACACACGGTGTGTATATATACGTGT GCATAGATATACACACGGTGTGTATATATACGTGTGCATAGATATACACA CGGTGTGTATATATACGTGTGCATAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG01070.hp1 others(45): Show HG00639.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02257.hp2 HG02451.hp2 HG02523.hp2 HG02602.hp2 HG03492.hp2 HG03654.hp2 HG03942.hp1 HG03942.hp2 HG04228.hp2 NA18906.hp1 NA18942.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18965.hp2 NA18971.hp1 NA18974.hp2 NA18977.hp1 NA18992.hp1 NA18995.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19060.hp1 NA20300.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0008c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0026 a0001c0001t0028 a0001c0001t0032 a0001c0004t0022 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0027 a0002c0002t0033 a0008c0019t0001	a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0113 others(45): Show a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0048 a0001c0001t0003g0036 a0001c0001t0011g0002 a0001c0001t0026g0162 a0001c0001t0028g0145 a0001c0001t0032g0148 a0001c0004t0022g0035 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0120 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0002g0056 a0002c0002t0002g0061 a0002c0002t0002g0070 a0002c0002t0003g0060 a0002c0002t0004g0102 a0002c0002t0005g0014 a0002c0002t0027g0137 a0002c0002t0033g0182 a0008c0019t0001g0119	48	182	0.2637	175	c.661 others(194): Show c.661+14487_661+14488insCTATGCACACGTATATATACACACCG TGTGTATATCTATGCACACGTATATATACACACCGTGTGTATATCTATGC ACACGTATATATACACACCGTGTGTATATCTATGCACACGTATATATACA CACCGTGTGTATATCTATGCACACGTATATATACACACCGTGTGTATAT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72400327	T T	TATATACA others(168): Show TATATACACATGGTGTGTATATATACGTGTGCATAGATATACACACGGTG TGTATATATACGTGTGCATAGATATACACACGGTGTGTATATATACGTGT GCATAGATATACACACGGTGTGTATATATACGTGTGCATAGATATACACA CGGTGTGTATATATACGTGTGCATAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0009 a0002c0020t0009	a0002c0020t0009g0129 a0002c0020t0009g0129	1	182	0.0055	175	c.661 others(194): Show c.661+14487_661+14488insCTATGCACACGTATATATACACACCG TGTGTATATCTATGCACACGTATATATACACACCGTGTGTATATCTATGC ACACGTATATATACACACCGTGTGTATATCTATGCACACGTATATATACA CACCGTGTGTATATCTATGCACACGTATATATACACACCATGTGTATAT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar

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