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
VPS13D_chr1_12225030_12517047	12381922	T T	TTTTCTTT others(1): Show TTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp2 HG02056.hp1 others(7): Show HG01106.hp1 HG01884.hp2 HG02056.hp1 HG02071.hp2 HG02165.hp1 HG02486.hp2 HG02523.hp1 NA18977.hp1 NA19010.hp2 NA19070.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0009c0022	a0001c0001t0001 a0001c0001t0015 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0002 a0001c0002t0008 a0001c0003t0005 a0001c0003t0017 a0001c0005t0002 a0001c0005t0004 a0009c0022t0002	a0001c0001t0001g0092 a0001c0001t0015g0069 a0001c0002t0002g0039 others(7): Show a0001c0001t0001g0092 a0001c0001t0015g0069 a0001c0002t0002g0039 a0001c0002t0002g0045 a0001c0002t0008g0044 a0001c0003t0005g0050 a0001c0003t0017g0054 a0001c0005t0002g0062 a0001c0005t0004g0060 a0009c0022t0002g0033	10	88	0.1136	8	c.111 others(28): Show c.11191-1000_11191-993dupTTCTTTCT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	57/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12395996	G G	GATATATA others(1): Show GATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01071.hp1 NA19066.hp2 HG00408.hp1 HG01071.hp1 NA19066.hp2	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0014 a0002c0004 a0017c0019 a0001c0014 a0002c0004 a0017c0019	a0001c0014t0012 a0002c0004t0001 a0017c0019t0001 a0001c0014t0012 a0002c0004t0001 a0017c0019t0001	a0001c0014t0012g0075 a0002c0004t0001g0094 a0017c0019t0001g0093 a0001c0014t0012g0075 a0002c0004t0001g0094 a0017c0019t0001g0093	3	108	0.0278	8	c.116 others(29): Show c.11635-4159_11635-4152dupTATATATA	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12396029	A A	ATATATAT others(1): Show ATATATATT	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA19012.hp2 HG02683.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0004 a0001c0002t0002 a0001c0005t0004	a0001c0002t0002g0024 a0001c0005t0004g0111 a0001c0002t0002g0024 a0001c0005t0004g0111	2	75	0.0267	8	c.116 others(29): Show c.11635-4152_11635-4151insTATATATT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69			chr1	TogoVar
VPS13D_chr1_12225030_12517047	12400958	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03017.hp1 HG02523.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0042 a0001c0002t0002g0039 a0001c0001t0002g0042 a0001c0002t0002g0039	2	133	0.0150	8	c.117 others(27): Show c.11784+629_11784+630insACACACAC	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	61/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12400960	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02071.hp2 HG02965.hp1 others(2): Show HG02056.hp1 HG02071.hp2 HG02965.hp1 NA18968.hp2 NA19043.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0022 a0001c0001 a0001c0002 a0009c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0008 a0009c0022t0002	a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0011g0107 others(2): Show a0001c0001t0001g0037 a0001c0001t0002g0034 a0001c0001t0011g0107 a0001c0002t0008g0044 a0009c0022t0002g0033	5	89	0.0562	8	c.117 others(27): Show c.11784+631_11784+632insACACACAC	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	61/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12400962	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03492.hp2 HG02132.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0010 a0001c0008t0003 a0001c0001t0010 a0001c0008t0003	a0001c0001t0010g0120 a0001c0008t0003g0002 a0001c0001t0010g0120 a0001c0008t0003g0002	2	55	0.0364	8	c.117 others(27): Show c.11785-611_11785-604dupCACACACA	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	61/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12510525	C C	CTGTGTGT others(1): Show CTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp2 HG01346.hp2 HG01433.hp2 others(1): Show HG01099.hp2 HG01346.hp2 HG01433.hp2 HG01993.hp1	a0001 a0006 a0001 a0006	a0001c0006 a0006c0025 a0001c0006 a0006c0025	a0001c0006t0003 a0006c0025t0003 a0001c0006t0003 a0006c0025t0003	a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0013 others(1): Show a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0013 a0006c0025t0003g0005	4	91	0.0440	8	c.15 others(19): Show c.1524_*1531dupTGTGTGTG	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	70/70	1532	INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS16_chr20_2835745_2871732	2845007	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01081.hp2 HG01256.hp1 others(6): Show HG00438.hp2 HG01081.hp2 HG01256.hp1 HG01258.hp1 NA18612.hp1 NA18949.hp1 NA19086.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 a0001c0004t0001	a0001c0001t0001g0035 a0001c0001t0001g0160 a0001c0001t0001g0161 others(6): Show a0001c0001t0001g0035 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0003g0118 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0004t0001g0300 a0001c0004t0001g0303	9	125	0.0720	8	c.53+ others(23): Show c.53+4209_53+4216dupGTGTGTGT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2854238	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02717.hp2 others(1): Show HG02055.hp2 HG02257.hp1 HG02717.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0188 a0001c0001t0001g0189 others(1): Show a0001c0001t0001g0116 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0193	4	133	0.0301	8	c.54- others(23): Show c.54-5461_54-5454dupCACACACA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS25_chr17_42768449_42784599	42772363	T T	TGTAGGTA others(1): Show TGTAGGTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02809.hp2 HG02895.hp1 others(6): Show HG01891.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG03195.hp1 HG06807.hp2 NA19030.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0001 a0001c0002t0001 a0002c0004t0001	a0001c0002t0001g0014 a0002c0004t0001g0007 a0001c0002t0001g0014 a0002c0004t0001g0007	9	292	0.0308	8	c.-11 others(19): Show c.-1113_-1112insGTAGGTAG	VPS25	ENSG00000131475.7	transcript	ENST00000253794.7	protein_coding		1085		chr17	TogoVar
VPS26A_chr10_69119178_69179412	69150431	G G	GTCTTGCT others(1): Show GTCTTGCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02258.hp1 others(10): Show HG01884.hp1 HG02257.hp2 HG02258.hp1 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp2 HG03486.hp1 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0018 a0001c0002t0026 a0001c0002t0008 a0001c0002t0018 a0001c0002t0026	a0001c0002t0008g0026 a0001c0002t0008g0027 a0001c0002t0008g0028 others(10): Show a0001c0002t0008g0026 a0001c0002t0008g0027 a0001c0002t0008g0028 a0001c0002t0008g0029 a0001c0002t0008g0031 a0001c0002t0008g0032 a0001c0002t0008g0033 a0001c0002t0008g0034 a0001c0002t0008g0035 a0001c0002t0008g0036 a0001c0002t0018g0296 a0001c0002t0018g0297 a0001c0002t0026g0030	13	334	0.0389	8	c.154 others(25): Show c.154-5380_154-5379insCTTGCTCT	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26A_chr10_69119178_69179412	69160127	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03471.hp2 HG03654.hp2 others(3): Show HG00609.hp2 HG03471.hp2 HG03654.hp2 NA18963.hp1 NA18963.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0007	a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0169 others(3): Show a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0169 a0001c0001t0003g0100 a0001c0001t0005g0054 a0001c0003t0007g0272	6	56	0.1071	8	c.551 others(25): Show c.551+1950_551+1957dupCACACACA	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26B_chr11_134219671_134252788	134240794	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01071.hp1 HG01081.hp1 others(50): Show HG00733.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01256.hp2 HG01258.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02080.hp2 HG02738.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp2 HG03486.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp1 NA18939.hp1 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18977.hp1 NA18984.hp2 NA18998.hp2 NA19000.hp2 NA19009.hp1 NA19043.hp1 NA19056.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp2 NA19077.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0019	a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0094 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0094 a0001c0001t0001g0118 a0001c0001t0001g0171 a0001c0001t0002g0013 a0001c0001t0002g0057 a0001c0001t0002g0149 a0001c0001t0002g0186 a0001c0001t0003g0003 a0001c0001t0003g0048 a0001c0001t0003g0146 a0001c0001t0010g0034 a0001c0001t0019g0071	53	210	0.2524	8	c.545 others(23): Show c.545+666_545+673dupGTGTGTGT	VPS26B	ENSG00000151502.11	transcript	ENST00000281187.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
VPS26C_chr21_37218422_37272334	37255851	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(102): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02683.hp2 HG02735.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18954.hp1 NA18957.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19068.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0002c0002t0002 a0003c0004t0002	a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0145 others(77): Show a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0233 a0001c0001t0001g0276 a0001c0001t0001g0292 a0001c0001t0001g0299 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0042 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0083 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0003g0011 a0001c0001t0003g0024 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0119 a0001c0001t0003g0234 a0001c0001t0004g0015 a0001c0001t0004g0035 a0001c0001t0004g0225 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0239 a0001c0001t0004g0277 a0001c0001t0004g0298 a0001c0001t0006g0300 a0002c0002t0002g0134 a0002c0002t0002g0154 a0003c0004t0002g0117	105	150	0.7000	8	c.57+ others(25): Show c.57+11379_57+11386dupAAAAAAAA	VPS26C	ENSG00000157538.14	transcript	ENST00000309117.11	protein_coding	1/7			chr21	TogoVar
VPS29_chr12_110486083_110507111	110492599	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG01081.hp1 others(28): Show HG00323.hp1 HG00735.hp2 HG01081.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01952.hp1 HG01975.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02293.hp1 HG02486.hp1 HG02622.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG03139.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03710.hp1 HG04199.hp1 NA18906.hp2 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0031 a0001c0001t0001g0080 a0001c0001t0001g0091 others(12): Show a0001c0001t0001g0031 a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0092 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0003g0059 a0001c0001t0003g0062 a0001c0001t0007g0048	31	64	0.4844	8	c.431 others(23): Show c.431+389_431+396dupTAAATAAA	VPS29	ENSG00000111237.19	transcript	ENST00000549578.6	protein_coding	3/3			chr12	TogoVar
VPS33A_chr12_122224564_122271494	122238770	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02723.hp1 others(2): Show HG02109.hp2 HG02258.hp2 HG02723.hp1 HG03688.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0021 a0001c0001t0001g0292 a0001c0001t0001g0293 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0004g0285	5	115	0.0435	8	c.116 others(23): Show c.1165-54_1165-47dupGTGTGTGT	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	9/12			chr12	TogoVar
VPS33A_chr12_122224564_122271494	122246290	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02109.hp2 others(14): Show HG01884.hp2 HG02055.hp1 HG02109.hp2 HG02129.hp2 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp2 HG02965.hp2 HG02976.hp2 HG03195.hp1 NA18612.hp1 NA18906.hp1 NA19064.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 others(11): Show a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0226 a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0002g0289 a0001c0001t0004g0285	17	320	0.0531	8	c.776 others(25): Show c.776-1536_776-1529dupTAAATAAA	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	6/12			chr12	TogoVar
VPS33A_chr12_122224564_122271494	122248060	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(78): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00639.hp1 HG01106.hp2 HG01169.hp2 HG01175.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02895.hp1 HG03017.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18978.hp2 NA18980.hp2 NA18983.hp1 NA18988.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19005.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp2 NA19085.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0004c0007	a0001c0001t0002 a0001c0001t0008 a0001c0001t0017 others(4): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0017 a0001c0001t0020 a0001c0006t0001 a0002c0002t0003 a0004c0007t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0013 others(71): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0046 a0001c0001t0002g0119 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0008g0016 a0001c0001t0008g0196 a0001c0001t0008g0216 a0001c0001t0017g0199 a0001c0001t0020g0312 a0001c0006t0001g0152 a0002c0002t0003g0257 a0004c0007t0002g0166	81	216	0.3750	8	c.775 others(25): Show c.775+1803_775+1810dupCACACACA	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	6/12			chr12	TogoVar
VPS33A_chr12_122224564_122271494	122259187	G G	GTGTATGT others(1): Show GTGTATGTA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01070.hp1 HG01167.hp1 others(26): Show HG00673.hp1 HG01070.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01361.hp2 HG01928.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02148.hp1 HG02273.hp2 HG02451.hp2 HG02683.hp1 HG02896.hp2 HG03041.hp2 HG03098.hp2 HG03704.hp2 HG03831.hp1 NA18942.hp1 NA18948.hp1 NA18954.hp1 NA18966.hp2 NA18968.hp1 NA18991.hp2 NA19007.hp1 NA19068.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0005t0007 a0002c0002t0003	a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0027 others(25): Show a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0011g0103 a0001c0001t0012g0155 a0001c0005t0007g0268 a0001c0005t0007g0269 a0001c0005t0007g0297 a0002c0002t0003g0153 a0002c0002t0003g0259 a0002c0002t0003g0302	29	115	0.2522	8	c.483 others(25): Show c.483+2066_483+2073dupTACATACA	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	4/12			chr12	TogoVar
VPS33A_chr12_122224564_122271494	122259191	A A	ATGTATGT others(1): Show ATGTATGTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18941.hp1 NA18955.hp2 others(5): Show HG00621.hp2 NA18941.hp1 NA18955.hp2 NA18974.hp1 NA19003.hp1 NA19007.hp2 NA19083.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0303 a0001c0001t0006g0304 a0001c0001t0006g0305 others(5): Show a0001c0001t0006g0303 a0001c0001t0006g0304 a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0310	8	336	0.0238	8	c.483 others(25): Show c.483+2069_483+2070insCACATACA	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	4/12			chr12	TogoVar
VPS33A_chr12_122224564_122271494	122267207	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02559.hp2 others(8): Show HG02257.hp2 HG02258.hp2 HG02559.hp2 HG03098.hp1 HG03195.hp2 HG03471.hp1 HG03831.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0008	a0001c0001t0001 a0001c0001t0004 a0001c0005t0007 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0007 a0002c0002t0003 a0003c0008t0004	a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0004g0285 others(8): Show a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0004g0285 a0001c0005t0007g0269 a0002c0002t0003g0017 a0002c0002t0003g0251 a0002c0002t0003g0252 a0002c0002t0003g0253 a0002c0002t0003g0254 a0002c0002t0003g0257 a0003c0008t0004g0244	11	15	0.7333	8	c.-80 others(17): Show c.-800_-799insAAAAAAAA	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding		714		chr12	TogoVar
VPS35L_chr16_19550703_19706163	19570834	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03834.hp1 NA19005.hp2 HG02015.hp1 HG03834.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0157 a0001c0002t0001g0213 a0001c0002t0001g0270 a0001c0001t0001g0157 a0001c0002t0001g0213 a0001c0002t0001g0270	3	21	0.1429	8	c.285 others(25): Show c.285+1292_285+1299dupATATATAT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19588158	A A	AGTATGTA others(1): Show AGTATGTAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp1 others(76): Show HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG01069.hp1 HG01071.hp1 HG01192.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01934.hp1 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02723.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp2 HG03654.hp1 HG03834.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18962.hp2 NA18968.hp1 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19063.hp2 NA19079.hp2 NA19082.hp1 NA19085.hp1 NA20752.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0013 a0001c0018 a0003c0020 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0005t0001 a0001c0006t0001 a0001c0008t0005 a0001c0013t0003 a0001c0018t0001 a0003c0020t0001 a0006c0010t0001	a0001c0001t0001g0045 a0001c0001t0001g0073 a0001c0001t0001g0074 others(76): Show a0001c0001t0001g0045 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0002g0079 a0001c0001t0004g0077 a0001c0002t0001g0008 a0001c0002t0001g0035 a0001c0002t0001g0085 a0001c0002t0001g0091 a0001c0002t0001g0095 a0001c0002t0001g0106 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0176 a0001c0002t0001g0179 a0001c0002t0004g0076 a0001c0002t0004g0078 a0001c0002t0005g0135 a0001c0002t0005g0178 a0001c0003t0001g0057 a0001c0003t0001g0067 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0002g0066 a0001c0003t0003g0062 a0001c0005t0001g0060 a0001c0005t0001g0065 a0001c0005t0001g0128 a0001c0006t0001g0059 a0001c0006t0001g0061 a0001c0006t0001g0069 a0001c0008t0005g0175 a0001c0013t0003g0058 a0001c0018t0001g0080 a0003c0020t0001g0113 a0006c0010t0001g0075	79	209	0.3780	8	c.640 others(25): Show c.640-3607_640-3600dupGTATGTAT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	7/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19588187	G G	GTATTTAT others(1): Show GTATTTATT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00741.hp2 others(36): Show HG00544.hp2 HG00558.hp1 HG00741.hp2 HG01069.hp2 HG01099.hp2 HG01243.hp1 HG01928.hp1 HG01993.hp1 HG02015.hp2 HG02155.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG03017.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp1 HG03831.hp2 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18943.hp2 NA18950.hp2 NA18962.hp1 NA18971.hp2 NA18979.hp2 NA18982.hp1 NA18989.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19065.hp1 NA19070.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 a0001c0001 a0001c0002 a0001c0016	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0016t0001	a0001c0001t0001g0115 a0001c0001t0001g0206 a0001c0001t0001g0207 others(36): Show a0001c0001t0001g0115 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0237 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0127 a0001c0002t0001g0205 a0001c0002t0001g0209 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0223 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0001g0271 a0001c0002t0006g0210 a0001c0016t0001g0232	39	281	0.1388	8	c.640 others(25): Show c.640-3598_640-3591dupTATTTATT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	7/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666919	T T	TCTTTCTT others(1): Show TCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp2 NA19000.hp1 others(1): Show HG02165.hp1 HG02165.hp2 NA19000.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0141 others(1): Show a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0141 a0001c0001t0001g0243	4	196	0.0204	8	c.222 others(27): Show c.2222-2234_2222-2233insCCTTTCTT	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(1): Show TCTTTCTTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG01074.hp1 others(11): Show HG00323.hp2 HG00621.hp1 HG01074.hp1 HG01928.hp2 HG02083.hp2 HG04184.hp1 HG04199.hp1 NA18962.hp2 NA18982.hp2 NA18989.hp2 NA19007.hp2 NA19079.hp1 NA19082.hp1 NA20129.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0010 a0007c0021 a0001c0001 a0006c0010 a0007c0021	a0001c0001t0001 a0001c0001t0006 a0006c0010t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0006c0010t0001 a0007c0021t0001	a0001c0001t0001g0028 a0001c0001t0001g0084 a0001c0001t0001g0089 others(11): Show a0001c0001t0001g0028 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0266 a0001c0001t0006g0253 a0006c0010t0001g0075 a0007c0021t0001g0018	14	65	0.2154	8	c.222 others(27): Show c.2222-2185_2222-2178dupCCTTTCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19668591	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02258.hp1 HG02630.hp1 others(5): Show HG00741.hp2 HG02258.hp1 HG02630.hp1 HG03195.hp1 HG03516.hp1 HG03540.hp2 NA18982.hp1 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0009 a0001c0002t0001g0046 a0001c0002t0001g0176 others(5): Show a0001c0002t0001g0009 a0001c0002t0001g0046 a0001c0002t0001g0176 a0001c0002t0001g0215 a0001c0002t0001g0234 a0001c0002t0001g0236 a0001c0002t0002g0005 a0001c0002t0002g0006	8	136	0.0588	8	c.222 others(25): Show c.2222-547_2222-540dupTGTGTGTG	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(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp2 HG00673.hp1 others(31): Show HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG01099.hp2 HG01496.hp1 HG01884.hp1 HG01934.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp2 HG02300.hp1 HG02486.hp2 HG02630.hp1 HG02683.hp2 HG02723.hp2 HG02896.hp1 HG02965.hp1 HG02976.hp2 HG03139.hp1 HG03490.hp2 HG03491.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp1 NA18612.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18962.hp2 NA19089.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0004 a0001c0001 a0001c0008 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0008t0001 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0018 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0164 a0001c0001t0002g0035 a0001c0001t0002g0058 a0001c0001t0002g0073 a0001c0001t0006g0075 a0001c0008t0001g0119 a0003c0004t0001g0057	34	38	0.8947	8	c.164 others(25): Show c.1648-708_1648-701dupAAAAAAAA	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding	13/16			chr16	TogoVar
VPS36_chr13_52407606_52455634	52436218	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(94): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp2 HG01168.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp2 HG02004.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG03041.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18971.hp2 NA18975.hp2 NA18979.hp2 NA18986.hp2 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19011.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19075.hp2 NA19078.hp2 NA19085.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0028	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(63): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0192 a0001c0001t0008g0040 a0001c0001t0008g0066 a0001c0001t0016g0120 a0001c0001t0017g0065 a0001c0001t0018g0064 a0001c0001t0019g0091 a0001c0001t0028g0261	97	218	0.4450	8	c.351 others(21): Show c.351+64_351+71dupGTGTGTGT	VPS36	ENSG00000136100.14	transcript	ENST00000378060.9	protein_coding	4/13			chr13	TogoVar
VPS36_chr13_52407606_52455634	52452963	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01099.hp2 HG03017.hp2 others(4): Show HG00544.hp2 HG01099.hp2 HG03017.hp2 HG03688.hp2 NA18994.hp1 NA19080.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 others(1): Show a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0203	7	162	0.0432	8	c.-23 others(19): Show c.-2370_-2369insAAAAAAAA	VPS36	ENSG00000136100.14	transcript	ENST00000378060.9	protein_coding		2330		chr13	TogoVar
VPS37A_chr8_17241958_17303024	17256630	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00639.hp1 others(67): Show HG00438.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01109.hp1 HG01255.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp2 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18957.hp2 NA18965.hp1 NA18978.hp2 NA18988.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19030.hp1 NA19030.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19074.hp2 NA19079.hp2 NA19085.hp1 NA19086.hp1 NA19240.hp1 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 others(9): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0034 a0001c0001t0035 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0004t0002	a0001c0001t0004g0003 a0001c0001t0004g0020 a0001c0001t0004g0022 others(61): Show a0001c0001t0004g0003 a0001c0001t0004g0020 a0001c0001t0004g0022 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0005g0019 a0001c0001t0005g0137 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0148 a0001c0001t0005g0150 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0333 a0001c0001t0008g0030 a0001c0001t0008g0203 a0001c0001t0008g0302 a0001c0001t0008g0303 a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0008g0307 a0001c0001t0008g0308 a0001c0001t0008g0335 a0001c0001t0011g0122 a0001c0001t0011g0124 a0001c0001t0011g0125 a0001c0001t0011g0126 a0001c0001t0011g0127 a0001c0001t0011g0128 a0001c0001t0011g0197 a0001c0001t0013g0306 a0001c0001t0013g0329 a0001c0001t0034g0196 a0001c0001t0035g0310 a0001c0001t0041g0129 a0001c0001t0043g0022 a0001c0001t0044g0192 a0001c0001t0046g0334 a0001c0004t0002g0140	70	165	0.4242	8	c.126 others(25): Show c.126-9246_126-9239dupTATTTATT	VPS37A	ENSG00000155975.10	transcript	ENST00000324849.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS37A_chr8_17241958_17303024	17277861	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18949.hp1 NA19074.hp2 HG02572.hp2 NA18949.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0046 a0001c0001t0004 a0001c0001t0046	a0001c0001t0004g0169 a0001c0001t0004g0177 a0001c0001t0046g0334 a0001c0001t0004g0169 a0001c0001t0004g0177 a0001c0001t0046g0334	3	115	0.0261	8	c.713 others(25): Show c.713+1428_713+1435dupCACACACA	VPS37A	ENSG00000155975.10	transcript	ENST00000324849.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS41_chr7_38717974_38914191	38756213	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02055.hp1 HG02083.hp1 others(14): Show HG02040.hp1 HG02055.hp1 HG02083.hp1 HG02300.hp2 HG02523.hp1 HG02698.hp1 HG02738.hp1 HG02965.hp2 HG03195.hp2 HG03688.hp2 HG03710.hp1 NA18948.hp2 NA18988.hp1 NA19003.hp1 NA19088.hp1 NA19090.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 others(8): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0001t0018 a0001c0001t0029 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0002t0036 a0001c0003t0001	a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0256 others(14): Show a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0256 a0001c0001t0006g0248 a0001c0001t0015g0187 a0001c0001t0018g0200 a0001c0001t0029g0209 a0001c0002t0002g0107 a0001c0002t0002g0144 a0001c0002t0002g0162 a0001c0002t0002g0180 a0001c0002t0004g0132 a0001c0002t0004g0151 a0001c0002t0008g0172 a0001c0002t0010g0136 a0001c0002t0036g0184 a0001c0003t0001g0119	17	88	0.1932	8	c.169 others(25): Show c.1695+617_1695+624dupGTGTGTGT	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	19/28			chr7	TogoVar
VPS45_chr1_150062776_150150329	150088434	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02630.hp2 others(3): Show HG01891.hp2 HG02055.hp1 HG02630.hp2 HG02723.hp2 HG02976.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0128 a0001c0001t0001g0129 a0002c0002t0001g0007 others(3): Show a0001c0001t0001g0128 a0001c0001t0001g0129 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0002g0014	6	97	0.0619	8	c.110 others(27): Show c.1105-3488_1105-3481dupATATATAT	VPS45	ENSG00000136631.16	transcript	ENST00000644510.2	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS45_chr1_150062776_150150329	150140386	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01243.hp2 HG01255.hp1 others(8): Show HG01069.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG02630.hp1 HG02717.hp1 HG03041.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 others(8): Show a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0072 a0001c0001t0001g0086 a0001c0001t0001g0108 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0005g0047	11	58	0.1897	8	c.162 others(27): Show c.1626-4288_1626-4281dupGTGTGTGT	VPS45	ENSG00000136631.16	transcript	ENST00000644510.2	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS4B_chr18_63384190_63427476	63387112	A A	ACACACAC others(1): Show ACACACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01192.hp2 HG01433.hp1 others(13): Show HG00323.hp2 HG01192.hp2 HG01433.hp1 HG02148.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02735.hp2 NA18906.hp2 NA18959.hp2 NA18966.hp2 NA18989.hp2 NA18995.hp1 NA19043.hp1 NA19087.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0016 a0004c0005t0001 a0001c0001t0001 a0001c0001t0016 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0014 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0016g0132 a0004c0005t0001g0128	16	275	0.0582	8	c.38 others(19): Show c.3862_*3863insGGTGTGTG	VPS4B	ENSG00000119541.10	transcript	ENST00000238497.10	protein_coding		2077		chr18	TogoVar
VPS4B_chr18_63384190_63427476	63405796	A A	AAAACAAA others(1): Show AAAACAAAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02698.hp1 HG03579.hp2 HG01081.hp2 HG02698.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0003 a0003c0006t0002 a0001c0001t0003 a0003c0006t0002	a0001c0001t0003g0098 a0001c0001t0003g0100 a0003c0006t0002g0076 a0001c0001t0003g0098 a0001c0001t0003g0100 a0003c0006t0002g0076	3	376	0.0080	8	c.364 others(25): Show c.364+1628_364+1635dupGTTTGTTT	VPS4B	ENSG00000119541.10	transcript	ENST00000238497.10	protein_coding	4/10			chr18	TogoVar
VPS50_chr7_93227366_93366123	93228885	G G	GTGTGTGT others(1): Show GTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG00673.hp2 others(30): Show HG00408.hp1 HG00609.hp2 HG00673.hp2 HG01069.hp1 HG01106.hp1 HG01496.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02165.hp1 HG04199.hp2 NA18612.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18950.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18972.hp1 NA18975.hp1 NA18979.hp2 NA18981.hp1 NA18987.hp2 NA18988.hp1 NA18992.hp2 NA19011.hp1 NA19054.hp2 NA19070.hp2 NA19081.hp1 NA19082.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0015 a0001c0001 a0001c0002 a0001c0015	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0017 a0001c0015t0005	a0001c0001t0002g0103 a0001c0001t0002g0109 a0001c0001t0002g0112 others(29): Show a0001c0001t0002g0103 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0005g0005 a0001c0001t0005g0126 a0001c0001t0005g0131 a0001c0001t0005g0135 a0001c0001t0006g0130 a0001c0001t0010g0108 a0001c0001t0026g0106 a0001c0002t0001g0114 a0001c0002t0001g0120 a0001c0002t0002g0104 a0001c0002t0005g0133 a0001c0002t0017g0132 a0001c0015t0005g0105	33	306	0.1078	8	c.-35 others(19): Show c.-3583_-3582insTGTGTGTA	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding		3480		chr7	TogoVar
VPS50_chr7_93227366_93366123	93240217	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02080.hp2 HG02717.hp1 others(13): Show HG02056.hp1 HG02080.hp2 HG02717.hp1 HG03239.hp1 HG04115.hp2 HG06807.hp1 NA18942.hp2 NA18955.hp2 NA18975.hp2 NA18987.hp1 NA19002.hp1 NA19057.hp1 NA19078.hp1 NA19082.hp2 NA19087.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0025 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0012t0004	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0002g0049 others(13): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0002g0049 a0001c0001t0006g0018 a0001c0001t0025g0075 a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0053 a0001c0002t0001g0076 a0001c0002t0003g0093 a0001c0002t0004g0020 a0001c0002t0004g0051 a0001c0002t0006g0052 a0001c0002t0007g0097 a0001c0012t0004g0050	16	186	0.0860	8	c.102 others(23): Show c.102+309_102+316dupACACACAC	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS50_chr7_93227366_93366123	93364410	T T	TCACACAC others(1): Show TCACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02148.hp2 HG02970.hp2 HG02145.hp2 HG02148.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0001t0013 a0001c0003t0006 a0001c0001t0009 a0001c0001t0013 a0001c0003t0006	a0001c0001t0009g0253 a0001c0001t0013g0255 a0001c0003t0006g0192 a0001c0001t0009g0253 a0001c0001t0013g0255 a0001c0003t0006g0192	3	171	0.0175	8	c.59 others(19): Show c.5974_*5975insCACACACA	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding		3288		chr7	TogoVar
VPS50_chr7_93227366_93366123	93364413	C C	CACACACA others(1): Show CACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03486.hp1 HG02896.hp2 HG02897.hp1 HG03486.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0016 a0002c0006t0001g0036 a0002c0006t0001g0038 a0002c0006t0001g0016 a0002c0006t0001g0036 a0002c0006t0001g0038	3	314	0.0096	8	c.59 others(19): Show c.5977_*5978insACACACAT	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding		3291		chr7	TogoVar
VPS52_chr6_33245278_33276876	33245913	T T	TCACACAC others(1): Show TCACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02965.hp2 NA20129.hp2 HG01243.hp2 HG02965.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0002t0001g0001 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0002t0001g0001	3	99	0.0303	8	c.49 others(19): Show c.4927_*4928insTGTGTGTG	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding		4364		chr6	TogoVar
VPS53_chr17_503668_719839	543783	A A	AGAAGGAA others(1): Show AGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG01891.hp2 others(7): Show HG00099.hp2 HG00438.hp1 HG01891.hp2 HG01928.hp1 HG01981.hp1 HG02145.hp1 HG04204.hp1 NA18983.hp2 NA18987.hp1 NA20129.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0006c0013	a0001c0001t0002 a0001c0001t0034 a0001c0002t0038 others(6): Show a0001c0001t0002 a0001c0001t0034 a0001c0002t0038 a0001c0002t0083 a0001c0006t0057 a0002c0003t0009 a0002c0003t0101 a0002c0003t0142 a0006c0013t0125	a0001c0001t0002g0121 a0001c0001t0034g0153 a0001c0001t0034g0155 others(7): Show a0001c0001t0002g0121 a0001c0001t0034g0153 a0001c0001t0034g0155 a0001c0002t0038g0219 a0001c0002t0083g0221 a0001c0006t0057g0102 a0002c0003t0009g0185 a0002c0003t0101g0208 a0002c0003t0142g0191 a0006c0013t0125g0163	10	85	0.1176	8	c.186 others(27): Show c.1867-6615_1867-6608dupCTTCCTTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	543813	A A	AAGGAAGG others(1): Show AAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01361.hp2 HG01081.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0113 a0001c0001t0011 a0001c0001t0113	a0001c0001t0011g0013 a0001c0001t0113g0230 a0001c0001t0011g0013 a0001c0001t0113g0230	2	198	0.0101	8	c.186 others(27): Show c.1867-6638_1867-6637insCCCTTCCT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	544035	G G	GAAGAAGG others(1): Show GAAGAAGGA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02602.hp1 NA18747.hp1 others(10): Show HG02135.hp2 HG02602.hp1 NA18747.hp1 NA18944.hp1 NA18960.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19009.hp1 NA19010.hp2 NA19084.hp1 NA19087.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0005 a0003c0004 a0001c0002 a0001c0005 a0003c0004	a0001c0002t0010 a0001c0002t0021 a0001c0002t0045 others(9): Show a0001c0002t0010 a0001c0002t0021 a0001c0002t0045 a0001c0005t0010 a0001c0005t0021 a0001c0005t0044 a0001c0005t0046 a0001c0005t0047 a0001c0005t0048 a0001c0005t0049 a0001c0005t0050 a0003c0004t0051	a0001c0002t0010g0057 a0001c0002t0021g0087 a0001c0002t0045g0064 others(10): Show a0001c0002t0010g0057 a0001c0002t0021g0087 a0001c0002t0045g0064 a0001c0005t0010g0007 a0001c0005t0010g0008 a0001c0005t0021g0006 a0001c0005t0044g0044 a0001c0005t0046g0096 a0001c0005t0047g0009 a0001c0005t0048g0005 a0001c0005t0049g0010 a0001c0005t0050g0011 a0003c0004t0051g0017	13	225	0.0578	8	c.186 others(27): Show c.1867-6860_1867-6859insTCCTTCTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	546329	T T	TCACACAC others(1): Show TCACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01168.hp1 HG02300.hp1 others(4): Show HG01099.hp2 HG01168.hp1 HG02300.hp1 HG02818.hp1 HG03139.hp2 NA18959.hp2 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003	a0001c0001t0032 a0001c0001t0084 a0001c0002t0007 others(4): Show a0001c0001t0032 a0001c0001t0084 a0001c0002t0007 a0001c0002t0025 a0001c0006t0001 a0002c0003t0030 a0002c0003t0088	a0001c0001t0032g0150 a0001c0001t0084g0198 a0001c0002t0007g0063 others(4): Show a0001c0001t0032g0150 a0001c0001t0084g0198 a0001c0002t0007g0063 a0001c0002t0025g0076 a0001c0006t0001g0097 a0002c0003t0030g0169 a0002c0003t0088g0209	7	32	0.2188	8	c.186 others(27): Show c.1866+5535_1866+5542dupTGTGTGTG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	656700	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01516.hp2 HG01517.hp1 others(5): Show HG01257.hp2 HG01516.hp2 HG01517.hp1 HG02074.hp1 NA18906.hp1 NA18957.hp1 NA18984.hp1 NA19087.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0004 a0001c0005 a0003c0004	a0001c0005t0048 a0003c0004t0003 a0003c0004t0004 others(1): Show a0001c0005t0048 a0003c0004t0003 a0003c0004t0004 a0003c0004t0067	a0001c0005t0048g0005 a0003c0004t0003g0015 a0003c0004t0003g0037 others(5): Show a0001c0005t0048g0005 a0003c0004t0003g0015 a0003c0004t0003g0037 a0003c0004t0003g0043 a0003c0004t0004g0014 a0003c0004t0004g0019 a0003c0004t0004g0040 a0003c0004t0067g0042	8	11	0.7273	8	c.373 others(23): Show c.373-755_373-748dupCACACACA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	5/21			chr17	TogoVar
VPS53_chr17_503668_719839	662751	G G	GAGAAAGA others(1): Show GAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01168.hp1 HG01978.hp1 others(2): Show HG01070.hp1 HG01168.hp1 HG01978.hp1 HG02074.hp1 HG02738.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0001c0002t0025 a0001c0002t0028 others(1): Show a0001c0002t0001 a0001c0002t0025 a0001c0002t0028 a0003c0004t0004	a0001c0002t0001g0045 a0001c0002t0001g0090 a0001c0002t0025g0076 others(2): Show a0001c0002t0001g0045 a0001c0002t0001g0090 a0001c0002t0025g0076 a0001c0002t0028g0075 a0003c0004t0004g0019	5	129	0.0388	8	c.286 others(23): Show c.286-864_286-857dupTTCTTTCT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS53_chr17_503668_719839	662834	A A	AAAGGAAG others(1): Show AAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG02818.hp1 HG01074.hp2 HG01109.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0084 a0001c0001t0102 a0001c0011t0055 a0001c0001t0084 a0001c0001t0102 a0001c0011t0055	a0001c0001t0084g0198 a0001c0001t0102g0201 a0001c0011t0055g0091 a0001c0001t0084g0198 a0001c0001t0102g0201 a0001c0011t0055g0091	3	96	0.0313	8	c.286 others(23): Show c.286-947_286-940dupCCTTCCTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS53_chr17_503668_719839	672109	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01070.hp1 others(23): Show HG00323.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01884.hp2 HG01978.hp1 HG02738.hp2 NA18955.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18973.hp1 NA19007.hp1 NA19009.hp1 NA19065.hp1 NA19066.hp2 NA19079.hp2 NA19084.hp1 NA19090.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0010 a0005c0009	a0001c0001t0015 a0001c0001t0033 a0001c0001t0070 others(18): Show a0001c0001t0015 a0001c0001t0033 a0001c0001t0070 a0001c0001t0110 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0010 a0001c0002t0013 a0001c0002t0020 a0001c0002t0021 a0001c0002t0026 a0001c0002t0028 a0001c0002t0052 a0001c0002t0073 a0001c0002t0076 a0002c0003t0039 a0002c0003t0136 a0002c0010t0020 a0005c0009t0131 a0005c0009t0139	a0001c0001t0015g0135 a0001c0001t0033g0120 a0001c0001t0070g0012 others(23): Show a0001c0001t0015g0135 a0001c0001t0033g0120 a0001c0001t0070g0012 a0001c0001t0110g0122 a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0003g0072 a0001c0002t0007g0058 a0001c0002t0007g0062 a0001c0002t0007g0063 a0001c0002t0007g0081 a0001c0002t0010g0057 a0001c0002t0013g0083 a0001c0002t0020g0224 a0001c0002t0021g0087 a0001c0002t0026g0073 a0001c0002t0026g0088 a0001c0002t0028g0075 a0001c0002t0052g0089 a0001c0002t0073g0050 a0001c0002t0076g0086 a0002c0003t0039g0176 a0002c0003t0136g0215 a0002c0010t0020g0156 a0005c0009t0131g0189 a0005c0009t0139g0177	26	42	0.6190	8	c.286 others(27): Show c.286-10222_286-10215dupGTGTGTGT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar

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