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
VIPR1_chr3_42497643_42542568	42522080	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	327	0.0031	24	c.292 others(41): Show c.292+2772_292+2773insATATATATATATATATATATATAT	VIPR1	ENSG00000114812.13	transcript	ENST00000325123.5	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
VIRMA_chr8_94482689_94558469	94556361	A A	AATCTATA others(17): Show AATCTATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01978.hp2 HG04184.hp2 others(6): Show HG01943.hp2 HG01978.hp2 HG04184.hp2 NA18974.hp1 NA18984.hp2 NA19007.hp2 NA19056.hp1 NA19063.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 others(6): Show a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228	9	326	0.0276	24	c.-29 others(35): Show c.-2915_-2914insATATATATATATATATATATAGAT	VIRMA	ENSG00000164944.12	transcript	ENST00000297591.10	protein_coding		2893		chr8	TogoVar
VIRMA_chr8_94482689_94558469	94556364	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02148.hp1 HG02572.hp2 others(3): Show HG00735.hp1 HG02148.hp1 HG02572.hp2 HG02818.hp2 NA18522.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0003 a0001c0001t0001 a0001c0005t0003	a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0238 others(3): Show a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0238 a0001c0001t0001g0285 a0001c0005t0003g0246 a0001c0005t0003g0247	6	90	0.0667	24	c.-29 others(35): Show c.-2918_-2917insTATATATATATATATATATATATA	VIRMA	ENSG00000164944.12	transcript	ENST00000297591.10	protein_coding		2896		chr8	TogoVar
VKORC1L1_chr7_65868074_65964558	65929680	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03710.hp2 HG04204.hp1 others(3): Show HG00558.hp2 HG03710.hp2 HG04204.hp1 NA18971.hp2 NA18972.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0039 a0001c0001t0003g0044 others(3): Show a0001c0001t0003g0032 a0001c0001t0003g0039 a0001c0001t0003g0044 a0001c0001t0003g0047 a0001c0001t0003g0053 a0001c0001t0003g0059	6	191	0.0314	24	c.195 others(43): Show c.195-18990_195-18989insATATATATATATATATATATATAT	VKORC1L1	ENSG00000196715.7	transcript	ENST00000360768.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
VMAC_chr19_5899872_5915853	5907610	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01081.hp2 HG01358.hp2 others(27): Show HG00597.hp2 HG01081.hp2 HG01358.hp2 HG01934.hp1 HG02015.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02559.hp1 HG02622.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03927.hp2 HG04199.hp1 NA18906.hp2 NA18943.hp1 NA18952.hp2 NA18985.hp2 NA19012.hp1 NA19068.hp1 NA19082.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0023	a0001c0001t0001g0004 a0001c0001t0001g0063 a0001c0001t0001g0076 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0003g0089 a0001c0001t0013g0057 a0001c0001t0013g0059 a0001c0001t0023g0004	30	84	0.3571	24	c.192 others(41): Show c.192-1211_192-1188dupAAAAAAAAAAAAAAAAAAAAAAAA	VMAC	ENSG00000187650.4	transcript	ENST00000339485.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
VMAC_chr19_5899872_5915853	5907636	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	384	0.0026	24	c.192 others(41): Show c.192-1188_192-1187insAAAAAAAAAAAAAAAAAAAAAAAG	VMAC	ENSG00000187650.4	transcript	ENST00000339485.4	protein_coding	1/1			chr19	TogoVar
VN1R1_chr19_57449790_57462140	57457933	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03942.hp2 NA18945.hp1 others(6): Show HG03239.hp1 HG03942.hp2 NA18945.hp1 NA18949.hp1 NA18962.hp1 NA18991.hp2 NA19030.hp1 NA19057.hp2 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	9	91	0.0989	24	c.-14 others(35): Show c.-1448_-1447insACACACACACACACACACACACAC	VN1R1	ENSG00000178201.5	transcript	ENST00000321039.5	protein_coding		794		chr19	TogoVar
VN1R4_chr19_53261676_53272723	53270701	G G	GGGGAGAG others(17): Show GGGGAGAGGGAGAGGGAGAGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	74	0.0135	24	c.-30 others(35): Show c.-3037_-3036insTCTCCCTCTCCCTCTCCCTCTCCC	VN1R4	ENSG00000228567.3	transcript	ENST00000311170.5	protein_coding		2979		chr19	TogoVar
VNN2_chr6_132738870_132762904	132758000	T T	TTTCTTCT others(17): Show TTTCTTCTTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02630.hp2 HG03209.hp1 HG02258.hp2 HG02630.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0011 a0001c0001t0001g0087 a0001c0001t0001g0097	3	279	0.0108	24	c.-14 others(33): Show c.-141_-118dupGAAGAAGAAGAAGAAGAAGAAGAA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding		97		chr6	TogoVar
VOPP1_chr7_55465613_55577502	55564243	G G	GTCTCTCT others(17): Show GTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0121 a0001c0001t0006g0121	1	43	0.0233	24	c.54+ others(39): Show c.54+8004_54+8027dupGAGAGAGAGAGAGAGAGAGAGAGA	VOPP1	ENSG00000154978.13	transcript	ENST00000285279.10	protein_coding	1/4			chr7	TogoVar
VOPP1_chr7_55465613_55577502	55564243	G G	GTCTCTGT others(17): Show GTCTCTGTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19010.hp1 NA19090.hp1 NA19004.hp1 NA19010.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169	3	45	0.0667	24	c.54+ others(39): Show c.54+8027_54+8028insGAGAGAGAGAGAGAGAGACAGAGA	VOPP1	ENSG00000154978.13	transcript	ENST00000285279.10	protein_coding	1/4			chr7	TogoVar
VPREB3_chr22_23747743_23759425	23750975	A A	ACTCACCT others(17): Show ACTCACCTGGGCCGGGGCGGGGCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 NA18959.hp1 NA18975.hp1 HG01081.hp2 NA18959.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0002 a0001c0001t0001g0005	3	432	0.0069	24	c.18 others(35): Show c.1877_*1900dupCTGCCCCGCCCCGGCCCAGGTGAG	VPREB3	ENSG00000128218.8	transcript	ENST00000248948.4	protein_coding		1767		chr22	TogoVar
VPS11_chr11_119062818_119086972	119069999	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18612.hp1 NA18965.hp2 HG02451.hp2 NA18612.hp1 NA18965.hp2	a0001 a0002 a0001 a0002	a0001c0015 a0002c0002 a0001c0015 a0002c0002	a0001c0015t0001 a0002c0002t0002 a0001c0015t0001 a0002c0002t0002	a0001c0015t0001g0180 a0002c0002t0002g0080 a0002c0002t0002g0103 a0001c0015t0001g0180 a0002c0002t0002g0080 a0002c0002t0002g0103	3	56	0.0536	24	c.473 others(39): Show c.473-227_473-204dupTAAATAAATAAATAAATAAATAAA	VPS11	ENSG00000160695.16	transcript	ENST00000621676.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
VPS11_chr11_119062818_119086972	119070027	T T	TAAATAAA others(17): Show TAAATAAATAAATAAATAAATAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	354	0.0028	24	c.473 others(39): Show c.473-204_473-203insTAAATAAATAAATAAATAAAAAAA	VPS11	ENSG00000160695.16	transcript	ENST00000621676.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
VPS11_chr11_119062818_119086972	119086678	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	218	0.0046	24	c.50 others(35): Show c.5055_*5056insATATATATATATATATATATATAT	VPS11	ENSG00000160695.16	transcript	ENST00000621676.5	protein_coding		4707		chr11	TogoVar
VPS13A_chr9_77172534_77426537	77411660	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0241 a0001c0003t0004g0241	1	87	0.0115	24	c.947 others(43): Show c.9474+4055_9474+4078dupAAAAAAAAAAAAAAAAAAAAAAAA	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	71/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13B_chr8_99008274_99882580	99270131	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	16	0.0625	24	c.251 others(43): Show c.2516-4064_2516-4041dupTTTTTTTTTTTTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	17/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99793254	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0130 a0003c0005t0004g0130	1	52	0.0192	24	c.794 others(43): Show c.7941+8786_7941+8809dupTATATATATATATATATATATATA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	43/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99832341	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01517.hp1 HG01978.hp1 NA18612.hp1 others(1): Show HG01517.hp1 HG01978.hp1 NA18612.hp1 NA19058.hp1	a0002 a0002	a0002c0003 a0002c0018 a0002c0003 a0002c0018	a0002c0003t0003 a0002c0003t0007 a0002c0018t0003 a0002c0003t0003 a0002c0003t0007 a0002c0018t0003	a0002c0003t0003g0101 a0002c0003t0003g0111 a0002c0003t0007g0028 others(1): Show a0002c0003t0003g0101 a0002c0003t0003g0111 a0002c0003t0007g0028 a0002c0018t0003g0095	4	54	0.0741	24	c.933 others(38): Show c.9331-26_9331-3dupTTTTTTTTTTTTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	51/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13D_chr1_12225030_12517047	12367553	A A	AATTTATT others(17): Show AATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0012 a0012	a0012c0028 a0012c0028	a0012c0028t0013 a0012c0028t0013	a0012c0028t0013g0141 a0012c0028t0013g0141	1	78	0.0128	24	c.104 others(43): Show c.10449-902_10449-879dupATTTATTTATTTATTTATTTATTT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	52/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12396029	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02273.hp1 HG01346.hp1 HG02273.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0048 a0001c0003t0005g0049 a0001c0003t0005g0048 a0001c0003t0005g0049	2	75	0.0267	24	c.116 others(45): Show c.11635-4152_11635-4151insTATATATATATATATATATATATT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69			chr1	TogoVar
VPS13D_chr1_12225030_12517047	12396029	A A	ATATATAT others(17): Show ATATATATATATATATATATGTATT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01993.hp1 HG01346.hp2 HG01993.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0007 a0001c0006t0003g0013 a0001c0006t0003g0007 a0001c0006t0003g0013	2	75	0.0267	24	c.116 others(45): Show c.11635-4152_11635-4151insTATATATATATATATATATGTATT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69			chr1	TogoVar
VPS16_chr20_2835745_2871732	2854238	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG01243.hp1 others(17): Show HG00558.hp2 HG00642.hp1 HG01243.hp1 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02132.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03579.hp1 HG03927.hp2 NA18522.hp2 NA18939.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0031 a0001c0001t0001g0199 a0001c0001t0001g0204 others(16): Show a0001c0001t0001g0031 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0258 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0297 a0001c0011t0001g0276	20	149	0.1342	24	c.54- others(39): Show c.54-5477_54-5454dupCACACACACACACACACACACACA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2854264	C C	CACACACA others(17): Show CACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	404	0.0025	24	c.54- others(39): Show c.54-5454_54-5453insCACACACACACACACACACACAAA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS33B_chr15_90993673_91027594	91026979	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0235 a0001c0006t0001g0235	1	148	0.0068	24	c.-47 others(35): Show c.-4731_-4730insAAAAAAAAAAAAAAAAAAAAAAAA	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding		4386		chr15	TogoVar
VPS35L_chr16_19550703_19706163	19588158	A A	AGTATGTA others(17): Show AGTATGTATGTATGTATGTATGTAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	131	0.0076	24	c.640 others(41): Show c.640-3623_640-3600dupGTATGTATGTATGTATGTATGTAT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	7/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666927	T T	TCTTTCTT others(17): Show TCTTTCTTCCTTTCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02976.hp1 HG02615.hp1 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0013 a0002c0009 a0001c0013 a0002c0009	a0001c0013t0003 a0002c0009t0002 a0001c0013t0003 a0002c0009t0002	a0001c0013t0003g0058 a0002c0009t0002g0196 a0001c0013t0003g0058 a0002c0009t0002g0196	2	53	0.0377	24	c.222 others(43): Show c.2222-2201_2222-2178dupCCTTTCTTCCTTTCTTCCTTTCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666927	T T	TCTTTCTT others(17): Show TCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18964.hp2 HG02717.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0248 a0001c0001t0001g0184 a0001c0001t0001g0248	2	53	0.0377	24	c.222 others(43): Show c.2222-2226_2222-2225insTCTTTCTTTCTTTCTTCCTTTCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666961	T T	TTTCTTCC others(17): Show TTTCTTCCTTTCTTCCTTTCTTCCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02258.hp2 HG02559.hp1 others(4): Show HG01175.hp1 HG02258.hp2 HG02559.hp1 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03579.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0019 a0001c0001 a0005c0019	a0001c0001t0001 a0001c0001t0002 a0005c0019t0002 a0001c0001t0001 a0001c0001t0002 a0005c0019t0002	a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0177 others(4): Show a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0177 a0001c0001t0001g0201 a0001c0001t0002g0052 a0001c0001t0002g0186 a0005c0019t0002g0048	7	266	0.0263	24	c.222 others(43): Show c.2222-2178_2222-2177insCCCTTCTTCCTTTCTTCCTTTCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35_chr16_46651132_46694178	46663862	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	5	0.2000	24	c.164 others(41): Show c.1648-724_1648-701dupAAAAAAAAAAAAAAAAAAAAAAAA	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding	13/16			chr16	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACACACAC others(17): Show ACACACACACACACACACACACTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0161 a0001c0002t0008g0161	1	8	0.1250	24	c.-28 others(35): Show c.-2826_-2825insAGAGTGTGTGTGTGTGTGTGTGTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACACACAC others(17): Show ACACACACACACTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01934.hp1 HG03654.hp1 others(2): Show HG00438.hp2 HG01934.hp1 HG03654.hp1 NA18951.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0010 a0001c0001t0001 a0001c0001t0002 a0001c0003t0010	a0001c0001t0001g0006 a0001c0001t0001g0052 a0001c0001t0002g0004 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0052 a0001c0001t0002g0004 a0001c0003t0010g0168 a0001c0003t0010g0169	5	12	0.4167	24	c.-28 others(35): Show c.-2826_-2825insAGAGAGAGAGAGAGTGTGTGTGTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACACACAC others(17): Show ACACACACACTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG02040.hp1 others(14): Show HG00639.hp2 HG01106.hp1 HG02040.hp1 HG02083.hp2 HG02129.hp2 HG02895.hp1 HG02896.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03225.hp2 HG03490.hp2 HG03654.hp2 HG04115.hp1 NA18612.hp1 NA18962.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0021	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0053 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0053 a0001c0001t0001g0071 a0001c0001t0001g0115 a0001c0001t0001g0136 a0001c0001t0001g0150 a0001c0001t0002g0035 a0001c0001t0002g0049 a0001c0001t0002g0129 a0001c0001t0003g0028 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0082 a0001c0001t0018g0061 a0001c0001t0021g0068	17	24	0.7083	24	c.-28 others(35): Show c.-2826_-2825insAGAGAGAGAGAGAGAGTGTGTGTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACACACAC others(17): Show ACACACACTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01099.hp2 HG01175.hp1 others(9): Show HG00280.hp1 HG01099.hp2 HG01175.hp1 HG01255.hp1 HG01433.hp1 HG02723.hp2 HG03139.hp1 HG03471.hp2 HG06807.hp2 NA18612.hp2 NA18954.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0006 a0001c0008t0001 a0001c0001t0001 a0001c0001t0006 a0001c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0059 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0167 a0001c0001t0006g0075 a0001c0008t0001g0119	12	19	0.6316	24	c.-28 others(35): Show c.-2826_-2825insAGAGAGAGAGAGAGAGAGTGTGTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACACACTC others(17): Show ACACACTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	8	0.1250	24	c.-28 others(35): Show c.-2826_-2825insAGAGAGAGAGAGAGAGAGAGTGTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS41_chr7_38717974_38914191	38720516	A A	ATATATAT others(17): Show ATATATATATGTATGTATGTATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0231 a0001c0001t0013g0231	1	239	0.0042	24	c.57 others(35): Show c.5729_*5730insCATATACATACATACATATATATA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2457		chr7	TogoVar
VPS41_chr7_38717974_38914191	38720546	A A	ATGTATGT others(17): Show ATGTATGTATATGTATGTATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 NA18906.hp2 HG01433.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0057 a0001c0001t0003g0059	2	233	0.0086	24	c.56 others(35): Show c.5699_*5700insCACACATACATACATATACATACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2427		chr7	TogoVar
VPS45_chr1_150062776_150150329	150088434	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18906.hp1 HG02630.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0150 a0001c0001t0001g0125 a0001c0001t0001g0150	2	93	0.0215	24	c.110 others(43): Show c.1105-3481_1105-3480insATATATATATATATATATATATAT	VPS45	ENSG00000136631.16	transcript	ENST00000644510.2	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS4B_chr18_63384190_63427476	63398204	C C	CACACACA others(17): Show CACACACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03579.hp1 HG02451.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	2	317	0.0063	24	c.873 others(39): Show c.873-952_873-951insATATATATATATATGTGTGTGTGT	VPS4B	ENSG00000119541.10	transcript	ENST00000238497.10	protein_coding	8/10			chr18	TogoVar
VPS52_chr6_33245278_33276876	33263412	C C	CTCACACA others(17): Show CTCACACACACACACACACACAGAG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	296	0.0034	24	c.179 others(39): Show c.1794+71_1794+72insCTCTGTGTGTGTGTGTGTGTGTGA	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS52_chr6_33245278_33276876	33263412	C C	CTCACACA others(17): Show CTCACACACACACACACACAGAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01192.hp1 HG01993.hp1 others(21): Show HG00099.hp1 HG01192.hp1 HG01993.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG04199.hp2 NA18939.hp2 NA18942.hp2 NA18963.hp2 NA18966.hp2 NA18978.hp2 NA18983.hp1 NA18987.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19055.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0040 others(19): Show a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065	24	319	0.0752	24	c.179 others(39): Show c.1794+71_1794+72insCTCTCTGTGTGTGTGTGTGTGTGA	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS52_chr6_33245278_33276876	33263414	C C	CACACACA others(17): Show CACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03942.hp2 HG01891.hp1 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0130 a0001c0002t0001g0100 a0001c0002t0001g0130	2	129	0.0155	24	c.179 others(39): Show c.1794+69_1794+70insCTGTGTGTGTGTGTGTGTGTGTGT	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS52_chr6_33245278_33276876	33263414	C C	CACACACA others(17): Show CACACACACACACACACACAGAGAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03041.hp2 HG02615.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0231 a0001c0003t0003g0232 a0001c0003t0003g0231 a0001c0003t0003g0232	2	129	0.0155	24	c.179 others(39): Show c.1794+69_1794+70insCTCTCTGTGTGTGTGTGTGTGTGT	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS52_chr6_33245278_33276876	33263414	C C	CTCACACA others(17): Show CTCACACACACACACACACAGAGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0067 a0001c0001t0002g0068	2	129	0.0155	24	c.179 others(39): Show c.1794+69_1794+70insCTCTCTGTGTGTGTGTGTGTGTGA	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS53_chr17_503668_719839	520786	T T	TCTTCACC others(17): Show TCTTCACCCTCACCTACATGAGCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00423.hp1 others(68): Show HG00099.hp1 HG00323.hp2 HG00423.hp1 HG00621.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01978.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG02723.hp1 HG02738.hp2 HG02895.hp1 HG02922.hp1 HG03492.hp2 HG03516.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18940.hp2 NA18945.hp2 NA18946.hp1 NA18955.hp1 NA18967.hp2 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp2 NA19009.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0006 others(7): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0015 a0002c0003 a0004c0008 a0005c0009 a0006c0013 a0007c0012	a0001c0001t0002 a0001c0001t0011 a0001c0001t0017 others(46): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0017 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0070 a0001c0001t0081 a0001c0001t0103 a0001c0001t0104 a0001c0001t0107 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0121 a0001c0001t0127 a0001c0001t0130 a0001c0001t0134 a0001c0002t0106 a0001c0006t0043 a0001c0007t0011 a0001c0007t0012 a0001c0007t0024 a0001c0007t0065 a0001c0007t0071 a0001c0015t0120 a0002c0003t0019 a0002c0003t0039 a0002c0003t0040 a0002c0003t0124 a0002c0003t0129 a0002c0003t0132 a0002c0003t0133 a0002c0003t0136 a0002c0003t0137 a0002c0003t0138 a0002c0003t0140 a0004c0008t0039 a0005c0009t0123 a0005c0009t0131 a0005c0009t0139 a0006c0013t0125 a0007c0012t0122	a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 others(68): Show a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0011g0013 a0001c0001t0017g0118 a0001c0001t0017g0124 a0001c0001t0017g0125 a0001c0001t0033g0119 a0001c0001t0033g0120 a0001c0001t0034g0153 a0001c0001t0034g0155 a0001c0001t0036g0114 a0001c0001t0036g0204 a0001c0001t0037g0126 a0001c0001t0037g0162 a0001c0001t0070g0012 a0001c0001t0081g0046 a0001c0001t0103g0117 a0001c0001t0104g0212 a0001c0001t0107g0127 a0001c0001t0110g0122 a0001c0001t0111g0142 a0001c0001t0112g0138 a0001c0001t0113g0230 a0001c0001t0115g0144 a0001c0001t0116g0211 a0001c0001t0117g0143 a0001c0001t0118g0160 a0001c0001t0121g0132 a0001c0001t0127g0154 a0001c0001t0130g0161 a0001c0001t0134g0165 a0001c0002t0106g0222 a0001c0006t0043g0001 a0001c0007t0011g0105 a0001c0007t0011g0106 a0001c0007t0012g0107 a0001c0007t0012g0110 a0001c0007t0012g0111 a0001c0007t0024g0108 a0001c0007t0024g0109 a0001c0007t0065g0104 a0001c0007t0071g0112 a0001c0015t0120g0149 a0002c0003t0019g0172 a0002c0003t0019g0214 a0002c0003t0019g0231 a0002c0003t0039g0176 a0002c0003t0040g0115 a0002c0003t0040g0168 a0002c0003t0124g0193 a0002c0003t0129g0216 a0002c0003t0132g0167 a0002c0003t0133g0194 a0002c0003t0136g0215 a0002c0003t0137g0187 a0002c0003t0138g0170 a0002c0003t0140g0174 a0004c0008t0039g0207 a0005c0009t0123g0178 a0005c0009t0131g0189 a0005c0009t0139g0177 a0006c0013t0125g0163 a0007c0012t0122g0140	71	230	0.3087	24	c.222 others(41): Show c.2223+791_2223+814dupCAGCTCATGTAGGTGAGGGTGAAG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	20/21			chr17	TogoVar
VPS53_chr17_503668_719839	543783	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01168.hp2 HG02818.hp2 others(3): Show HG01167.hp1 HG01168.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp2 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0016 others(1): Show a0001c0001 a0001c0005 a0001c0016 a0002c0003	a0001c0001t0094 a0001c0001t0095 a0001c0001t0108 others(3): Show a0001c0001t0094 a0001c0001t0095 a0001c0001t0108 a0001c0005t0044 a0001c0016t0056 a0002c0003t0090	a0001c0001t0094g0199 a0001c0001t0095g0147 a0001c0001t0108g0164 others(3): Show a0001c0001t0094g0199 a0001c0001t0095g0147 a0001c0001t0108g0164 a0001c0005t0044g0044 a0001c0016t0056g0099 a0002c0003t0090g0173	6	81	0.0741	24	c.186 others(43): Show c.1867-6631_1867-6608dupCTTCCTTCCTTCCTTCCTTCCTTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	543813	A A	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18906.hp2 HG02622.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0031 a0001c0002t0058 a0001c0001t0031 a0001c0002t0058	a0001c0001t0031g0197 a0001c0002t0058g0084 a0001c0001t0031g0197 a0001c0002t0058g0084	2	198	0.0101	24	c.186 others(43): Show c.1867-6638_1867-6637insCCCTCCCTTCCTTCCTTCCTTCCT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	662751	G G	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 NA18612.hp2 others(6): Show HG01516.hp2 HG01517.hp1 NA18612.hp2 NA18961.hp2 NA18978.hp1 NA18986.hp2 NA19011.hp2 NA19064.hp1 NA19087.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0004 a0003c0004t0006 others(4): Show a0003c0004t0003 a0003c0004t0004 a0003c0004t0006 a0003c0004t0023 a0003c0004t0064 a0003c0004t0066 a0003c0004t0067	a0003c0004t0003g0043 a0003c0004t0004g0021 a0003c0004t0004g0025 others(6): Show a0003c0004t0003g0043 a0003c0004t0004g0021 a0003c0004t0004g0025 a0003c0004t0004g0032 a0003c0004t0006g0023 a0003c0004t0023g0004 a0003c0004t0064g0031 a0003c0004t0066g0034 a0003c0004t0067g0042	9	133	0.0677	24	c.286 others(39): Show c.286-857_286-856insTTCTTTCTTTCTTTCTTTCTTTCT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS54_chr2_63887150_64024428	63967718	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	110	0.0091	24	c.492 others(41): Show c.492+1238_492+1239insTTTTTTTTTTTTTTTTTTTTTTTT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	5/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	64020148	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00558.hp2 others(38): Show HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00738.hp2 HG01109.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01515.hp1 HG01884.hp1 HG01928.hp2 HG01952.hp2 HG02004.hp1 HG02071.hp1 HG02148.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp2 HG02896.hp1 HG03139.hp2 HG03688.hp2 HG03942.hp2 HG04115.hp1 NA18942.hp1 NA18949.hp2 NA18952.hp1 NA18985.hp2 NA18993.hp2 NA19063.hp1 NA19068.hp2 NA19072.hp1 NA19081.hp2 NA19240.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0004t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0003c0005t0001	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 others(38): Show a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0147 a0001c0001t0001g0171 a0001c0001t0001g0265 a0001c0001t0002g0164 a0001c0001t0007g0159 a0001c0001t0007g0168 a0001c0004t0001g0055 a0002c0002t0001g0015 a0002c0002t0001g0113 a0002c0002t0001g0123 a0002c0002t0001g0126 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0145 a0002c0002t0001g0268 a0002c0002t0004g0139 a0002c0002t0004g0140 a0002c0002t0004g0267 a0002c0002t0005g0114 a0002c0002t0005g0116 a0002c0002t0005g0117 a0002c0002t0005g0118 a0003c0005t0001g0007	41	121	0.3388	24	c.-12 others(35): Show c.-1232_-1231insGTGTGTGTGTGTGTGTGTGTGTGT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding		721		chr2	TogoVar

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