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
USH2A_chr1_215617891_216428448	216030312	T T	TATCACAG others(30): Show TATCACAGATATATAATATATATGATATATAGATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0017 a0017	a0017c0008 a0017c0008	a0017c0008t0002 a0017c0008t0002	a0017c0008t0002g0021 a0017c0008t0002g0021	1	43	0.0233	37	c.632 others(58): Show c.6325+16082_6325+16118dupGTATATCTATATATCATATATATT ATATATCTGTGAT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	32/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216231249	T T	TTATATAT others(30): Show TTATATATATAATATATATATTATATATATAATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0053 a0053	a0053c0028 a0053c0028	a0053c0028t0003 a0053c0028t0003	a0053c0028t0003g0041 a0053c0028t0003g0041	1	45	0.0222	37	c.299 others(54): Show c.2993+703_2993+704insTATATATTATATATATAATATATATATT ATATATATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	14/71			chr1	TogoVar
USP13_chr3_179648040_179794401	179687659	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA18949.hp2 HG00280.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0041 a0001c0002t0001 a0001c0002t0041	a0001c0002t0001g0137 a0001c0002t0041g0124 a0001c0002t0001g0137 a0001c0002t0041g0124	2	25	0.0800	37	c.295 others(54): Show c.295-2556_295-2555insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP15_chr12_62255404_62421389	62257162	A A	ATGTGTGT others(30): Show ATGTGTGTGTATATGTATATATACACAATGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02015.hp1 HG02071.hp1 others(25): Show HG01433.hp2 HG02015.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02155.hp1 HG02165.hp1 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG04199.hp2 NA18941.hp2 NA18949.hp1 NA18955.hp2 NA18965.hp1 NA18971.hp1 NA18980.hp2 NA19030.hp2 NA19063.hp1 NA19088.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0004 a0001c0002t0001 a0001c0002t0049 others(2): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0049 a0001c0002t0052 a0001c0006t0001	a0001c0001t0004g0094 a0001c0001t0004g0114 a0001c0001t0004g0143 others(23): Show a0001c0001t0004g0094 a0001c0001t0004g0114 a0001c0001t0004g0143 a0001c0001t0004g0288 a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0024 a0001c0002t0001g0033 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0090 a0001c0002t0049g0075 a0001c0002t0052g0034 a0001c0006t0001g0043	28	268	0.1045	37	c.-32 others(48): Show c.-3253_-3252insTGTGTGTGTATATGTATATATACACAATGTGTGT GTG	USP15	ENSG00000135655.16	transcript	ENST00000280377.10	protein_coding		3241		chr12	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0045 a0001c0002t0008g0045	1	43	0.0233	37	c.-77 others(56): Show c.-77+25840_-77+25841insAAAAAAATATATATATATATATATAT ATATATATATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(30): Show ATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0061 a0001c0002t0002g0043 a0001c0002t0002g0061	2	44	0.0455	37	c.-77 others(56): Show c.-77+25840_-77+25841insAAAAAAAAAAAAAAATATATATATAT ATATATATATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ATATATAT others(30): Show ATATATATACATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0073 a0002c0003t0002g0073	1	116	0.0086	37	c.84- others(52): Show c.84-1281_84-1280insATATATACATATATATATATATATATATAT ATATTTT	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
USP34_chr2_61182463_61476087	61398507	A A	AGGGGAAG others(30): Show AGGGGAAGGAGGCGGAAGCAGGGGAAGGAGGCGGAAGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp1 HG02886.hp2 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0022 a0001c0005t0017 a0001c0005t0022	a0001c0005t0017g0136 a0001c0005t0022g0093 a0001c0005t0017g0136 a0001c0005t0022g0093	2	303	0.0066	37	c.553 others(54): Show c.553-3275_553-3274insGCTTCCGCCTCCTTCCCCTGCTTCCGCC TCCTTCCCC	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	3/79			chr2	TogoVar
USP51_chrX_55479616_55494848	55491659	T T	TTGTCCTG others(30): Show TTGTCCTGTAGGAAAACCTCAGGACAGCGTGATGGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	294	0.0034	37	c.-21 others(48): Show c.-2131_-2130insGACCCATCACGCTGTCCTGAGGTTTTCCTACAGG ACA	USP51	ENSG00000247746.5	transcript	ENST00000500968.4	protein_coding		1812		chrX	TogoVar
USP8_chr15_50419405_50519421	50445545	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0233 a0001c0001t0233	a0001c0001t0233g0177 a0001c0001t0233g0177	1	9	0.1111	37	c.250 others(54): Show c.250-3831_250-3830insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr15	TogoVar
UTP20_chr12_101275105_101391618	101310577	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19240.hp2 NA18906.hp2 NA19240.hp2	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0001 a0004c0020t0001	a0004c0020t0001g0277 a0004c0020t0001g0279 a0004c0020t0001g0277 a0004c0020t0001g0279	2	90	0.0222	37	c.223 others(54): Show c.2231+759_2231+760insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTP20_chr12_101275105_101391618	101310595	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG03927.hp2 HG01516.hp2 HG01517.hp1 HG03927.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0009 a0002c0005t0005 a0002c0005t0009	a0002c0005t0005g0170 a0002c0005t0005g0171 a0002c0005t0009g0110 a0002c0005t0005g0170 a0002c0005t0005g0171 a0002c0005t0009g0110	3	327	0.0092	37	c.223 others(54): Show c.2231+759_2231+760insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAGAAA	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
VAPB_chr20_58384229_58456101	58430020	C C	CAACATAG others(30): Show CAACATAGCAAGACCTCATCTCTTAAAAAAAAAAAAGT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	292	0.0034	37	c.212 others(54): Show c.212-4547_212-4546insGTAACATAGCAAGACCTCATCTCTTAAA AAAAAAAAA	VAPB	ENSG00000124164.16	transcript	ENST00000475243.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
VASP_chr19_45502479_45531983	45513468	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0220	1	145	0.0069	37	c.6-4 others(50): Show c.6-4174_6-4173insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	VASP	ENSG00000125753.15	transcript	ENST00000245932.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6789593	C C	CTCCCTTC others(30): Show CTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	289	0.0035	37	c.204 others(56): Show c.204+16585_204+16586insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCC	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VCX2_chrX_8164944_8176267	8169859	T T	TCCCCCCT others(30): Show TCCCCCCTCCCTCCCTCCCCACACACCACCTCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0003 a0002c0001t0001g0003	1	74	0.0135	37	c.17 others(46): Show c.172_*173insGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGG G	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		84		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169895	C C	CCCCTCCC others(30): Show CCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0020 a0005c0005t0001g0020	1	33	0.0303	37	c.13 others(46): Show c.136_*137insAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG G	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		48		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466575	T T	TGGGGAGG others(30): Show TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0027 a0003c0003t0001g0027	1	261	0.0038	37	c.19 others(46): Show c.192_*193insGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG G	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		66		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466718	A A	AGGTGTGT others(30): Show AGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0007 a0002c0002t0007g0007	1	126	0.0079	37	c.33 others(46): Show c.335_*336insGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGG T	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		209		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466755	G G	GGGGAGGG others(30): Show GGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	226	0.0044	37	c.37 others(46): Show c.372_*373insGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGG A	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		246		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467096	G G	GGGGAGGG others(30): Show GGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0003 a0006c0006t0003g0003	1	184	0.0054	37	c.71 others(46): Show c.713_*714insGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGG A	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		587		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467213	G G	GGGGAGGG others(30): Show GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0038 a0038	a0038c0039 a0038c0039	a0038c0039t0031 a0038c0039t0031	a0038c0039t0031g0006 a0038c0039t0031g0006	1	239	0.0042	37	c.83 others(46): Show c.830_*831insGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG A	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		704		chrX	TogoVar
VCX_chrX_7838171_7849143	7844475	A A	AGGAAGAG others(30): Show AGGAAGAGGCGGTGTGTGGGGAGGGAGGGAGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0001 a0002c0002t0015g0001	1	339	0.0029	37	c.45 others(46): Show c.459_*460insGGAAGAGGCGGTGTGTGGGGAGGGAGGGAGGGAGGG G	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		333		chrX	TogoVar
VEGFB_chr11_64229584_64244264	64237126	G G	GAGAGAGA others(30): Show GAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGACA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	221	0.0045	37	c.375 others(50): Show c.375-61_375-60insAGAGAGAGAGAGAGACAGAGACAGACAGAGAC AGACA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VEGFC_chr4_176678538_176797922	176792730	T T	TCCCCCTT others(30): Show TCCCCCTTCCCCATCAGTCTTCACCTCCTAGAGCCTCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0180 a0001c0001t0011g0180	1	222	0.0045	37	c.-42 others(46): Show c.-420_-419insGGAGGCTCTAGGAGGTGAAGACTGATGGGGAAGGGG G	VEGFC	ENSG00000150630.4	transcript	ENST00000618562.2	protein_coding	1/7	420		chr4	TogoVar
VEPH1_chr3_157254742_157508416	157304019	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	256	0.0039	37	c.201 others(56): Show c.2010+9601_2010+9602insTATATATATATATATATATATATATA TATATATATAT	VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	11/13			chr3	TogoVar
VN1R4_chr19_53261676_53272723	53269924	T T	TGGCCGGG others(30): Show TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	332	0.0030	37	c.-22 others(48): Show c.-2260_-2259insGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCC	VN1R4	ENSG00000228567.3	transcript	ENST00000311170.5	protein_coding		2202		chr19	TogoVar
VNN2_chr6_132738870_132762904	132758039	C C	CTTCTTCT others(30): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	207	0.0048	37	c.-15 others(46): Show c.-157_-156insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA A	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding		136		chr6	TogoVar
VNN2_chr6_132738870_132762904	132758041	T T	TCTTCTTC others(30): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	362	0.0028	37	c.-15 others(46): Show c.-159_-158insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA G	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding		138		chr6	TogoVar
VPS13B_chr8_99008274_99882580	99270131	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	16	0.0625	37	c.251 others(56): Show c.2516-4041_2516-4040insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	17/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS35_chr16_46651132_46694178	46685950	T T	TCAGTGGC others(30): Show TCAGTGGCATTAGGTACATTCACATTAATACAATTACC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	218	0.0046	37	c.4-2 others(50): Show c.4-2381_4-2345dupGGTAATTGTATTAATGTGAATGTACCTAATGC CACTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding	1/16			chr16	TogoVar
VPS50_chr7_93227366_93366123	93247480	A A	ACAAATAT others(30): Show ACAAATATAGGGTTTGTAATAAGTTACAAATAGGTTAC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	314	0.0032	37	c.103 others(54): Show c.103-5173_103-5172insCAAATATAGGGTTTGTAATAAGTTACAA ATAGGTTAC	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding	2/27			chr7	TogoVar
VPS8_chr3_184807166_185057604	184984194	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAACTCACCAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00673.hp2 others(22): Show HG00099.hp2 HG00544.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01167.hp1 HG01928.hp1 HG01934.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02523.hp1 HG02615.hp1 HG03492.hp1 HG03834.hp1 HG04115.hp2 HG06807.hp1 NA18942.hp2 NA18948.hp2 NA18950.hp2 NA18985.hp1 NA19063.hp1 NA19068.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0101 a0001c0001t0002g0107 others(22): Show a0001c0001t0002g0085 a0001c0001t0002g0101 a0001c0001t0002g0107 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0136 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0148 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0183 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0268	25	26	0.9615	37	c.358 others(56): Show c.3585+1100_3585+1101insAAAAAAAAAAAAAAAAAAAAAAAAAA AACTCACCAAG	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	42/47			chr3	TogoVar
VWC2L_chr2_214406054_214583976	214407042	C C	CTTATAAC others(30): Show CTTATAACTTGAATGTTAACAAAAGAAAAAAAGCAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	280	0.0036	37	c.-48 others(48): Show c.-4825_-4824insTTATAACTTGAATGTTAACAAAAGAAAAAAAGCA AGG	VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding		4011		chr2	TogoVar
VWC2L_chr2_214406054_214583976	214496245	T T	TATTTTGG others(30): Show TATTTTGGGACATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG01070.hp1 others(24): Show HG00140.hp1 HG00738.hp1 HG01070.hp1 HG01106.hp2 HG01261.hp1 HG01516.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp2 HG02922.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03831.hp1 NA18948.hp2 NA18966.hp1 NA18968.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA19009.hp1 NA19010.hp2 NA19063.hp1 NA19065.hp2 NA19075.hp2 NA19085.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 others(24): Show a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0005g0035 a0001c0001t0008g0024 a0001c0001t0008g0029	27	230	0.1174	37	c.520 others(56): Show c.520+59487_520+59488insATTTTGGGACATATATATATATATAT ATATATATATA	VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding	3/3			chr2	TogoVar
VWC2_chr7_49768638_49926950	49770864	G G	GAGAGGGA others(30): Show GAGAGGGAAGGGGAGAGGGGAGGGGGAGGGGGAGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0058 a0002c0002t0002g0058	1	254	0.0039	37	c.-33 others(48): Show c.-3353_-3352insAGAGGGAAGGGGAGAGGGGAGGGGGAGGGGGAGG AGA	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding		2773		chr7	TogoVar
VWC2_chr7_49768638_49926950	49877481	A A	AAAAAAAT others(30): Show AAAAAAATATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02486.hp2 HG00735.hp1 HG02486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0014 a0001c0001t0003 a0002c0002t0014	a0001c0001t0003g0167 a0002c0002t0014g0043 a0001c0001t0003g0167 a0002c0002t0014g0043	2	89	0.0225	37	c.827 others(56): Show c.827-34552_827-34551insAAAAATATACATATATATATATATAT ATATATATATA	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
WASF2_chr1_27399230_27495167	27454187	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	68	0.0147	37	c.-43 others(56): Show c.-43-25255_-43-25254insAAATATATATATATATATATATATAT ATATATATATA	WASF2	ENSG00000158195.11	transcript	ENST00000618852.5	protein_coding	1/8			chr1	TogoVar
WASF3_chr13_26552683_26693948	26559811	T T	TCTTTCTT others(30): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0032 a0001c0002t0006g0032	1	270	0.0037	37	c.-10 others(56): Show c.-109+1992_-109+1993insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	WASF3	ENSG00000132970.14	transcript	ENST00000335327.6	protein_coding	1/9			chr13	TogoVar
WASF3_chr13_26552683_26693948	26578993	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA19081.hp1 NA19087.hp2 HG02148.hp2 NA19081.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0003 a0001c0001t0002 a0002c0003t0003	a0001c0001t0002g0082 a0001c0001t0002g0083 a0002c0003t0003g0070 a0001c0001t0002g0082 a0001c0001t0002g0083 a0002c0003t0003g0070	3	13	0.2308	37	c.-10 others(58): Show c.-109+21197_-109+21198insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	WASF3	ENSG00000132970.14	transcript	ENST00000335327.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
WDHD1_chr14_54933949_55032099	55013194	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	110	0.0091	37	c.189 others(52): Show c.189+290_189+291insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	WDHD1	ENSG00000198554.12	transcript	ENST00000360586.8	protein_coding	3/25			chr14	TogoVar
WDR18_chr19_979345_999557	996793	C C	CCCGTTCA others(30): Show CCCGTTCATGCGCGAGGAGGTGGGGAAGCCACAGCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	37	c.24 others(48): Show c.2449_*2450insCCGTTCATGCGCGAGGAGGTGGGGAAGCCACAGC CTT	WDR18	ENSG00000065268.11	transcript	ENST00000585809.6	protein_coding		2237		chr19	TogoVar
WDR20_chr14_102134897_102215527	102161142	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	75	0.0133	37	c.249 others(56): Show c.249+20971_249+20972insATATATATATATATATATATATATAT ATATATTTTTT	WDR20	ENSG00000140153.18	transcript	ENST00000342702.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR27_chr6_169452212_169707029	169638322	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0005 a0003c0002t0005	a0003c0002t0005g0059 a0003c0002t0005g0059	1	199	0.0050	37	c.186 others(54): Show c.1869+216_1869+217insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding	18/25			chr6	TogoVar
WDR37_chr10_1051385_1137372	1069389	A A	ATATATAT others(30): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0019 a0001c0001t0010g0019	1	108	0.0093	37	c.-40 others(54): Show c.-40-2726_-40-2725insATATATATATATATATTTTTTTTTTTTT TTTTTTTTT	WDR37	ENSG00000047056.18	transcript	ENST00000263150.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR43_chr2_28889667_28953219	28950842	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	44	0.0227	37	c.40 others(48): Show c.4063_*4064insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	WDR43	ENSG00000163811.12	transcript	ENST00000407426.8	protein_coding		2624		chr2	TogoVar
WDR45B_chr17_82609562_82653444	82648849	A A	AGGGGGAG others(30): Show AGGGGGAGGGGCGGGGAGGAGGGGGAGGGGCGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0336 a0001c0001t0017g0336	1	376	0.0027	37	c.-51 others(46): Show c.-510_-509insCCTCCCCGCCCCTCCCCCTCCTCCCCGCCCCTCCCC C	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding		406		chr17	TogoVar
WDR48_chr3_39047016_39101664	39071192	G G	GGGGGGGG others(30): Show GGGGGGGGTGGGGGGGGGAAATAAAAAAAAAATAATCT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	356	0.0028	37	c.672 others(54): Show c.672+1448_672+1449insGGGGGGGTGGGGGGGGGAAATAAAAAAA AAATAATCT	WDR48	ENSG00000114742.14	transcript	ENST00000302313.10	protein_coding	7/18			chr3	TogoVar
WDR49_chr3_167473684_167658942	167545509	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0203 a0002c0002t0002g0203	1	147	0.0068	37	c.182 others(56): Show c.1824-8510_1824-8509insTATATATATATATATATATATATATA TATATATATAT	WDR49	ENSG00000174776.12	transcript	ENST00000682715.1	protein_coding	10/18			chr3	TogoVar
WDR4_chr21_42844226_42884539	42845471	T T	TGTAGGCT others(30): Show TGTAGGCTGGCTGAGTGCCCTCGTGAGCTTGCGGCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	398	0.0025	37	c.45 others(48): Show c.4541_*4577dupTGTGCCGCAAGCTCACGAGGGCACTCAGCCAGCC TAC	WDR4	ENSG00000160193.12	transcript	ENST00000398208.3	protein_coding		3754		chr21	TogoVar

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