Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
VPS13B_chr8_99008274_99882580	99633806	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01081.hp1 HG01099.hp1 others(10): Show HG00609.hp2 HG01081.hp1 HG01099.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01934.hp2 HG01978.hp2 HG02074.hp1 HG02165.hp1 NA18991.hp1 NA19004.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0002c0003	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0011t0002 a0002c0003t0003 a0002c0003t0007	a0001c0001t0002g0018 a0001c0001t0002g0026 a0001c0002t0001g0002 others(10): Show a0001c0001t0002g0018 a0001c0001t0002g0026 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0020 a0001c0002t0001g0035 a0001c0002t0001g0079 a0001c0002t0002g0001 a0001c0002t0009g0015 a0001c0011t0002g0007 a0002c0003t0003g0036 a0002c0003t0007g0017	13	14	0.9286	10	c.522 others(29): Show c.5221-7981_5221-7972dupTGTGTGTGTG	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99640049	G G	GAAGAAGA others(3): Show GAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0006 a0003c0005t0006	a0003c0005t0006g0129 a0003c0005t0006g0129	1	70	0.0143	10	c.522 others(29): Show c.5221-1761_5221-1760insAGAAGAAGAA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99821103	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG01243.hp2 HG01891.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0022 a0001c0001 a0004c0022	a0001c0001t0001 a0004c0022t0004 a0001c0001t0001 a0004c0022t0004	a0001c0001t0001g0114 a0004c0022t0004g0122 a0001c0001t0001g0114 a0004c0022t0004g0122	2	16	0.1250	10	c.899 others(27): Show c.8995-136_8995-127dupACACACACAC	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	49/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13C_chr15_61847389_62065447	61873959	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02145.hp1 HG02895.hp1 others(2): Show HG02004.hp2 HG02145.hp1 HG02895.hp1 HG03041.hp1 NA21309.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0018 a0005c0005t0004 a0005c0005t0018	a0005c0005t0004g0015 a0005c0005t0004g0017 a0005c0005t0004g0018 others(2): Show a0005c0005t0004g0015 a0005c0005t0004g0017 a0005c0005t0004g0018 a0005c0005t0004g0019 a0005c0005t0018g0016	5	228	0.0219	10	c.104 others(29): Show c.10415-560_10415-551dupGTGTGTGTGT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	77/84			chr15	TogoVar
VPS13C_chr15_61847389_62065447	61914878	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03834.hp2 HG01167.hp1 HG03834.hp2	a0006 a0028 a0006 a0028	a0006c0006 a0028c0054 a0006c0006 a0028c0054	a0006c0006t0005 a0028c0054t0015 a0006c0006t0005 a0028c0054t0015	a0006c0006t0005g0219 a0028c0054t0015g0222 a0006c0006t0005g0219 a0028c0054t0015g0222	2	118	0.0169	10	c.844 others(27): Show c.8445+745_8445+754dupTTTTTTTTTT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	61/84			chr15	TogoVar
VPS13C_chr15_61847389_62065447	61996990	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02886.hp1 HG02970.hp2 others(2): Show HG02257.hp2 HG02886.hp1 HG02970.hp2 NA18967.hp1 NA19240.hp1	a0004 a0007 a0004 a0007	a0004c0004 a0007c0007 a0007c0020 others(1): Show a0004c0004 a0007c0007 a0007c0020 a0007c0034	a0004c0004t0026 a0007c0007t0001 a0007c0020t0001 others(1): Show a0004c0004t0026 a0007c0007t0001 a0007c0020t0001 a0007c0034t0001	a0004c0004t0026g0046 a0007c0007t0001g0182 a0007c0007t0001g0183 others(2): Show a0004c0004t0026g0046 a0007c0007t0001g0182 a0007c0007t0001g0183 a0007c0020t0001g0180 a0007c0034t0001g0179	5	322	0.0155	10	c.135 others(29): Show c.1353+3573_1353+3574insATATATATAT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	16/84			chr15	TogoVar
VPS13C_chr15_61847389_62065447	61996998	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02647.hp2 HG03540.hp2 others(1): Show HG01167.hp1 HG02647.hp2 HG03540.hp2 NA18522.hp1	a0006 a0006	a0006c0006 a0006c0037 a0006c0006 a0006c0037	a0006c0006t0005 a0006c0006t0017 a0006c0037t0017 a0006c0006t0005 a0006c0006t0017 a0006c0037t0017	a0006c0006t0005g0212 a0006c0006t0005g0219 a0006c0006t0017g0208 others(1): Show a0006c0006t0005g0212 a0006c0006t0005g0219 a0006c0006t0017g0208 a0006c0037t0017g0216	4	268	0.0149	10	c.135 others(29): Show c.1353+3556_1353+3565dupATATATATAT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	16/84			chr15	TogoVar
VPS13C_chr15_61847389_62065447	61997003	A A	ATATATAT others(3): Show ATATATATATG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0006 a0007c0007t0006	a0007c0007t0006g0178 a0007c0007t0006g0178	1	350	0.0029	10	c.135 others(29): Show c.1353+3551_1353+3560dupCATATATATA	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	16/84			chr15	TogoVar
VPS13C_chr15_61847389_62065447	62012221	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02970.hp1 others(3): Show HG02615.hp1 HG02647.hp1 HG02970.hp1 HG02970.hp2 NA19043.hp1 NA19240.hp1	a0004 a0007 a0008 a0004 a0007 a0008	a0004c0009 a0007c0020 a0007c0034 others(1): Show a0004c0009 a0007c0020 a0007c0034 a0008c0008	a0004c0009t0001 a0007c0020t0001 a0007c0034t0001 others(1): Show a0004c0009t0001 a0007c0020t0001 a0007c0034t0001 a0008c0008t0001	a0004c0009t0001g0194 a0004c0009t0001g0195 a0004c0009t0001g0196 others(3): Show a0004c0009t0001g0194 a0004c0009t0001g0195 a0004c0009t0001g0196 a0007c0020t0001g0180 a0007c0034t0001g0179 a0008c0008t0001g0141	6	132	0.0455	10	c.826 others(23): Show c.826-67_826-58dupGTGTGTGTGT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	11/84			chr15	TogoVar
VPS13D_chr1_12225030_12517047	12285929	C C	CTTCCTTT others(3): Show CTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03486.hp1 HG04204.hp2 others(1): Show HG02698.hp1 HG03486.hp1 HG04204.hp2 NA19240.hp2	a0001 a0012 a0018 a0001 a0012 a0018	a0001c0006 a0012c0028 a0018c0015 a0001c0006 a0012c0028 a0018c0015	a0001c0006t0010 a0012c0028t0013 a0018c0015t0024 a0001c0006t0010 a0012c0028t0013 a0018c0015t0024	a0001c0006t0010g0003 a0001c0006t0010g0010 a0012c0028t0013g0141 others(1): Show a0001c0006t0010g0003 a0001c0006t0010g0010 a0012c0028t0013g0141 a0018c0015t0024g0001	4	91	0.0440	10	c.563 others(29): Show c.5635-2238_5635-2229dupTTCCTTTCCT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	21/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12285990	T T	TTCCTCTC others(3): Show TTCCTCTCCTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 HG03195.hp2 others(1): Show HG01891.hp2 HG02717.hp1 HG03195.hp2 HG03486.hp1	a0004 a0007 a0012 a0004 a0007 a0012	a0004c0030 a0004c0031 a0007c0029 others(1): Show a0004c0030 a0004c0031 a0007c0029 a0012c0028	a0004c0030t0014 a0004c0031t0014 a0007c0029t0011 others(1): Show a0004c0030t0014 a0004c0031t0014 a0007c0029t0011 a0012c0028t0013	a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 others(1): Show a0004c0030t0014g0143 a0004c0031t0014g0142 a0007c0029t0011g0144 a0012c0028t0013g0141	4	96	0.0417	10	c.563 others(29): Show c.5635-2207_5635-2198dupTCCTCTCCTC	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	21/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12352965	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0002 a0009c0022t0002	a0009c0022t0002g0033 a0009c0022t0002g0033	1	19	0.0526	10	c.943 others(27): Show c.9432-987_9432-978dupAAAAAAAAAA	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	46/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12373095	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0119 a0001c0001t0012g0119	1	46	0.0217	10	c.108 others(29): Show c.10809-637_10809-628dupTTTTTTTTTT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	54/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12395996	G G	GATATATA others(3): Show GATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp1 HG03098.hp1 others(2): Show HG01243.hp2 HG02486.hp1 HG03098.hp1 NA18522.hp1 NA18974.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0004 a0001c0001 a0001c0012 a0002c0004	a0001c0001t0001 a0001c0001t0006 a0001c0012t0002 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0012t0002 a0001c0012t0008 a0002c0004t0001	a0001c0001t0001g0019 a0001c0001t0006g0137 a0001c0012t0002g0074 others(2): Show a0001c0001t0001g0019 a0001c0001t0006g0137 a0001c0012t0002g0074 a0001c0012t0008g0067 a0002c0004t0001g0103	5	110	0.0455	10	c.116 others(31): Show c.11635-4161_11635-4152dupTATATATATA	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(3): Show ATATATATATT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG02738.hp1 others(6): Show HG00408.hp2 HG00438.hp2 HG02738.hp1 HG03098.hp2 NA18943.hp2 NA18959.hp2 NA19000.hp2 NA19063.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0009 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0005t0001	a0001c0001t0002g0043 a0001c0001t0009g0027 a0001c0002t0002g0028 others(6): Show a0001c0001t0002g0043 a0001c0001t0009g0027 a0001c0002t0002g0028 a0001c0002t0004g0047 a0001c0002t0009g0014 a0001c0002t0009g0025 a0001c0002t0009g0026 a0001c0002t0009g0030 a0001c0005t0001g0132	9	82	0.1098	10	c.116 others(31): Show c.11635-4152_11635-4151insTATATATATT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69			chr1	TogoVar
VPS13D_chr1_12225030_12517047	12396029	A A	ATATATGT others(3): Show ATATATGTATT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0003 a0001c0006t0010g0003	1	74	0.0135	10	c.116 others(31): Show c.11635-4152_11635-4151insTATATGTATT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69			chr1	TogoVar
VPS13D_chr1_12225030_12517047	12400960	G G	GCACACAC others(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp2 HG01106.hp1 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0085 a0001c0001t0015g0069 a0001c0001t0001g0085 a0001c0001t0015g0069	2	86	0.0233	10	c.117 others(29): Show c.11784+631_11784+632insACACACACAC	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(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18947.hp1 HG02698.hp1 NA18947.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0010 a0001c0006t0003 a0001c0006t0010	a0001c0006t0003g0009 a0001c0006t0010g0003 a0001c0006t0003g0009 a0001c0006t0010g0003	2	55	0.0364	10	c.117 others(29): Show c.11785-613_11785-604dupCACACACACA	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	61/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12400962	G G	GCGCGCAC others(3): Show GCGCGCACACA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0023 a0014c0020t0023	a0014c0020t0023g0077 a0014c0020t0023g0077	1	54	0.0185	10	c.117 others(29): Show c.11784+633_11784+634insGCGCACACAC	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	61/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS16_chr20_2835745_2871732	2845007	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19072.hp2 HG00597.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0159 a0001c0001t0003g0117 a0001c0001t0001g0159 a0001c0001t0003g0117	2	118	0.0169	10	c.53+ others(25): Show c.53+4207_53+4216dupGTGTGTGTGT	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(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00544.hp2 others(60): Show HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG01069.hp1 HG01074.hp2 HG01167.hp1 HG01168.hp2 HG01358.hp2 HG01928.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02080.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02293.hp1 HG02451.hp1 HG02559.hp2 HG02896.hp2 HG03225.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG03927.hp1 HG04184.hp1 NA18522.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18954.hp1 NA18959.hp1 NA18962.hp1 NA18970.hp2 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19058.hp1 NA19062.hp2 NA19064.hp1 NA19068.hp1 NA19072.hp1 NA19072.hp2 NA19081.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0006 a0010 a0011	a0001c0001 a0001c0002 a0004c0013 others(4): Show a0001c0001 a0001c0002 a0004c0013 a0005c0010 a0006c0019 a0010c0014 a0011c0008	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0004c0013t0001 a0005c0010t0001 a0006c0019t0001 a0010c0014t0001 a0011c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(39): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0003g0117 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0002t0001g0152 a0004c0013t0001g0003 a0005c0010t0001g0122 a0006c0019t0001g0003 a0010c0014t0001g0027 a0011c0008t0001g0187	63	192	0.3281	10	c.54- others(25): Show c.54-5463_54-5454dupCACACACACA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2868310	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01256.hp1 HG01257.hp1 others(15): Show HG00423.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01943.hp2 HG01978.hp1 HG03669.hp1 NA18963.hp2 NA18964.hp2 NA18979.hp1 NA18990.hp1 NA18994.hp1 NA19012.hp1 NA19060.hp2 NA19070.hp2 NA19079.hp2 NA19085.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0004 a0001c0003t0002g0013 a0001c0003t0002g0023 others(9): Show a0001c0003t0002g0004 a0001c0003t0002g0013 a0001c0003t0002g0023 a0001c0003t0002g0034 a0001c0003t0002g0112 a0001c0003t0002g0113 a0001c0003t0002g0115 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0183	18	260	0.0692	10	c.17 others(21): Show c.1736_*1737insTTTTTTTTTT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding		1579		chr20	TogoVar
VPS26B_chr11_134219671_134252788	134240794	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01993.hp2 HG02055.hp1 others(12): Show HG00544.hp1 HG01993.hp2 HG02055.hp1 HG02148.hp2 HG02280.hp2 HG02451.hp1 HG02630.hp1 HG03471.hp1 HG03579.hp1 HG04228.hp1 NA18962.hp1 NA18975.hp1 NA19011.hp1 NA19030.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0009 a0001c0001t0001g0154 a0001c0001t0002g0179 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0154 a0001c0001t0002g0179 a0001c0001t0003g0009 a0001c0001t0005g0016 a0001c0001t0005g0115 a0001c0001t0010g0035	15	172	0.0872	10	c.545 others(25): Show c.545+664_545+673dupGTGTGTGTGT	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(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp2 HG01074.hp2 others(15): Show HG00733.hp2 HG00741.hp2 HG01074.hp2 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01346.hp1 HG01516.hp2 HG01517.hp1 HG01978.hp2 HG02145.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp1 NA18906.hp1 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0017 a0002c0002t0002	a0001c0001t0002g0008 a0001c0001t0002g0019 a0001c0001t0002g0027 others(11): Show a0001c0001t0002g0008 a0001c0001t0002g0019 a0001c0001t0002g0027 a0001c0001t0002g0069 a0001c0001t0002g0075 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0144 a0001c0001t0003g0080 a0001c0001t0007g0137 a0001c0001t0007g0138 a0001c0001t0017g0227 a0002c0002t0002g0143	18	63	0.2857	10	c.57+ others(27): Show c.57+11377_57+11386dupAAAAAAAAAA	VPS26C	ENSG00000157538.14	transcript	ENST00000309117.11	protein_coding	1/7			chr21	TogoVar
VPS33A_chr12_122224564_122271494	122238770	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp2 HG02055.hp2 others(5): Show HG00735.hp2 HG01123.hp2 HG02055.hp2 HG02129.hp2 HG02818.hp2 HG02976.hp2 NA18612.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0286 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0296	8	118	0.0678	10	c.116 others(25): Show c.1165-56_1165-47dupGTGTGTGTGT	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	9/12			chr12	TogoVar
VPS33A_chr12_122224564_122271494	122239749	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0261 a0001c0001t0009g0261	1	47	0.0213	10	c.116 others(27): Show c.1164+119_1164+128dupTTTTTTTTTT	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	9/12			chr12	TogoVar
VPS33A_chr12_122224564_122271494	122248060	C C	CTGTATGT others(3): Show CTGTATGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG01123.hp2 others(23): Show HG00735.hp2 HG01106.hp1 HG01123.hp2 HG01346.hp1 HG01516.hp2 HG01517.hp1 HG02055.hp1 HG02129.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp2 HG02735.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03195.hp1 HG03239.hp2 HG03688.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA19043.hp2 NA19064.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(20): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0237 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0002g0289	26	161	0.1615	10	c.775 others(27): Show c.775+1810_775+1811insCACACATACA	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	6/12			chr12	TogoVar
VPS33A_chr12_122224564_122271494	122248060	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG01243.hp2 others(43): Show HG00609.hp1 HG00621.hp1 HG01243.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG02055.hp2 HG02132.hp1 HG02145.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp2 HG03579.hp1 NA18906.hp2 NA18943.hp2 NA18974.hp2 NA18987.hp2 NA18999.hp1 NA19001.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19070.hp1 NA19074.hp1 NA19080.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 a0001c0003t0005 a0001c0006t0001 a0002c0002t0003	a0001c0001t0001g0025 a0001c0001t0002g0002 a0001c0001t0002g0014 others(36): Show a0001c0001t0001g0025 a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0147 a0001c0001t0002g0165 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0207 a0001c0001t0002g0236 a0001c0001t0009g0261 a0001c0001t0013g0156 a0001c0001t0013g0157 a0001c0003t0005g0019 a0001c0003t0005g0020 a0001c0003t0005g0263 a0001c0003t0005g0264 a0001c0003t0005g0265 a0001c0003t0005g0266 a0001c0006t0001g0151 a0002c0002t0003g0017 a0002c0002t0003g0018 a0002c0002t0003g0153 a0002c0002t0003g0252 a0002c0002t0003g0253 a0002c0002t0003g0254 a0002c0002t0003g0255 a0002c0002t0003g0256 a0002c0002t0003g0258 a0002c0002t0003g0259 a0002c0002t0003g0299 a0002c0002t0003g0300 a0002c0002t0003g0302	46	181	0.2541	10	c.775 others(27): Show c.775+1801_775+1810dupCACACACACA	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	6/12			chr12	TogoVar
VPS33A_chr12_122224564_122271494	122267207	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02145.hp2 HG01891.hp1 HG02145.hp1 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0010 a0001c0003t0005 a0001c0003t0010	a0001c0003t0005g0019 a0001c0003t0005g0266 a0001c0003t0010g0282 a0001c0003t0005g0019 a0001c0003t0005g0266 a0001c0003t0010g0282	3	7	0.4286	10	c.-80 others(19): Show c.-800_-799insAAAAAAAAAA	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding		714		chr12	TogoVar
VPS33B_chr15_90993673_91027594	91011990	A A	AAAAACAA others(3): Show AAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02145.hp1 others(11): Show HG01243.hp2 HG02109.hp2 HG02145.hp1 HG02280.hp2 HG02572.hp2 HG02895.hp1 HG02896.hp1 HG03130.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0004t0001g0005 others(6): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0004t0001g0005 a0001c0004t0001g0041 a0001c0004t0001g0202 a0001c0004t0001g0203 a0001c0004t0001g0204 a0001c0004t0001g0205 a0001c0004t0001g0206	14	252	0.0556	10	c.357 others(27): Show c.357+1804_357+1813dupGTTTTGTTTT	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding	5/22			chr15	TogoVar
VPS33B_chr15_90993673_91027594	91017365	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03579.hp2 HG02451.hp1 HG03579.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0012 a0001c0007t0001g0012	2	318	0.0063	10	c.178 others(25): Show c.178-342_178-341insTTTTTTTTTT	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding	2/22			chr15	TogoVar
VPS35L_chr16_19550703_19706163	19570834	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02071.hp1 HG02080.hp1 others(5): Show HG00735.hp1 HG02071.hp1 HG02080.hp1 HG02735.hp2 NA18989.hp1 NA19056.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0249 others(5): Show a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0269 a0001c0002t0001g0154 a0001c0002t0006g0210	8	26	0.3077	10	c.285 others(27): Show c.285+1290_285+1299dupATATATATAT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19622140	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02155.hp2 HG02293.hp2 others(7): Show HG00558.hp1 HG02155.hp2 HG02293.hp2 HG02300.hp1 NA18952.hp2 NA18979.hp2 NA19000.hp2 NA19005.hp1 NA19057.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0095 a0001c0002t0001g0116 a0001c0002t0001g0117 others(7): Show a0001c0002t0001g0095 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0127 a0001c0002t0001g0205 a0001c0002t0001g0211 a0001c0002t0001g0214 a0001c0002t0001g0220 a0001c0002t0001g0228 a0001c0002t0006g0264	10	72	0.1389	10	c.122 others(29): Show c.1225-4024_1225-4015dupTTTTTTTTTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	14/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19668591	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0210 a0001c0002t0006g0210	1	129	0.0078	10	c.222 others(27): Show c.2222-549_2222-540dupTGTGTGTGTG	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(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG00639.hp2 others(24): Show HG00280.hp1 HG00621.hp1 HG00639.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01243.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG02896.hp2 HG03017.hp1 HG03209.hp1 HG03831.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp1 NA18944.hp1 NA18985.hp1 NA18995.hp1 NA19011.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0017 a0001c0005t0014	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 others(20): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0001g0072 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0002g0076 a0001c0001t0002g0085 a0001c0001t0003g0028 a0001c0001t0007g0021 a0001c0001t0007g0023 a0001c0001t0017g0062 a0001c0005t0014g0124	27	31	0.8710	10	c.164 others(27): Show c.1648-710_1648-701dupAAAAAAAAAA	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding	13/16			chr16	TogoVar
VPS35_chr16_46651132_46694178	46681032	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0158 a0001c0001t0009g0158	1	27	0.0370	10	c.324 others(25): Show c.324-189_324-180dupGTGTGTGTGT	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding	4/16			chr16	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACACACAC others(3): Show ACACACACTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0159 a0001c0002t0008g0159	1	8	0.1250	10	c.-28 others(21): Show c.-2826_-2825insAGAGTGTGTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS36_chr13_52407606_52455634	52422784	A A	AAATATAA others(3): Show AAATATAAAAT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	336	0.0030	10	c.840 others(25): Show c.840+789_840+790insATTTTATATT	VPS36	ENSG00000136100.14	transcript	ENST00000378060.9	protein_coding	10/13			chr13	TogoVar
VPS36_chr13_52407606_52455634	52436218	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01070.hp1 others(20): Show HG00642.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01192.hp2 HG01952.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02273.hp2 HG03130.hp2 HG06807.hp2 NA18906.hp1 NA18965.hp2 NA18974.hp2 NA19006.hp2 NA19030.hp1 NA19077.hp1 NA19080.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0001 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0016 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0194 a0001c0001t0001g0258 a0001c0001t0007g0199 a0001c0001t0009g0030	23	144	0.1597	10	c.351 others(23): Show c.351+62_351+71dupGTGTGTGTGT	VPS36	ENSG00000136100.14	transcript	ENST00000378060.9	protein_coding	4/13			chr13	TogoVar
VPS36_chr13_52407606_52455634	52452963	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02486.hp1 others(3): Show HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02895.hp1 HG02897.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 a0001c0001t0001 a0001c0001t0006 a0001c0001t0015	a0001c0001t0001g0132 a0001c0001t0006g0141 a0001c0001t0006g0143 others(3): Show a0001c0001t0001g0132 a0001c0001t0006g0141 a0001c0001t0006g0143 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0015g0142	6	161	0.0373	10	c.-23 others(21): Show c.-2370_-2369insAAAAAAAAAA	VPS36	ENSG00000136100.14	transcript	ENST00000378060.9	protein_coding		2330		chr13	TogoVar
VPS37A_chr8_17241958_17303024	17302703	A A	ACCCCCCC others(3): Show ACCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0129 a0001c0001t0041g0129	1	69	0.0145	10	c.77 others(21): Show c.7717_*7718insCCCCCCCCCC	VPS37A	ENSG00000155975.10	transcript	ENST00000324849.9	protein_coding		4680		chr8	TogoVar
VPS37B_chr12_122860330_122901124	122899094	C C	CACACACA others(3): Show CACACACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	258	0.0039	10	c.-30 others(21): Show c.-3033_-3032insATGTGTGTGT	VPS37B	ENSG00000139722.7	transcript	ENST00000267202.7	protein_coding		2971		chr12	TogoVar
VPS37C_chr11_61125257_61166426	61163479	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(102): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01943.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18952.hp1 NA18952.hp2 NA18970.hp1 NA18970.hp2 NA18983.hp1 NA18983.hp2 NA19043.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0004c0004 a0005c0005 others(1): Show a0001c0001 a0004c0004 a0005c0005 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0004c0004t0002 a0005c0005t0001 a0006c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0152 a0001c0001t0001g0177 a0001c0001t0002g0014 a0001c0001t0002g0030 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0107 a0001c0001t0004g0108 a0001c0001t0005g0012 a0001c0001t0008g0145 a0001c0001t0009g0071 a0001c0001t0010g0021 a0001c0001t0011g0057 a0001c0001t0012g0024 a0001c0001t0013g0060 a0001c0001t0014g0165 a0001c0001t0015g0075 a0001c0001t0016g0070 a0004c0004t0002g0163 a0004c0004t0002g0164 a0004c0004t0002g0167 a0004c0004t0002g0168 a0004c0004t0002g0169 a0004c0004t0002g0170 a0005c0005t0001g0011 a0006c0006t0001g0025 a0006c0006t0001g0036	105	134	0.7836	10	c.-20 others(21): Show c.-2096_-2095insAAAAAAAAAA	VPS37C	ENSG00000167987.11	transcript	ENST00000301765.10	protein_coding		2054		chr11	TogoVar
VPS37D_chr7_73662831_73677110	73667871	C C	CCGGAGCG others(3): Show CCGGAGCGGAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01123.hp1 HG01261.hp2 HG00738.hp1 HG01123.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	3	375	0.0080	10	c.-71 others(17): Show c.-71_-62dupGGAGCGGAGC	VPS37D	ENSG00000176428.6	transcript	ENST00000324941.5	protein_coding	1/4	61	INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS41_chr7_38717974_38914191	38720510	A A	ATGTATGT others(3): Show ATGTATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG03831.hp2 NA18980.hp1 others(2): Show HG00558.hp2 HG03831.hp2 NA18980.hp1 NA19003.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0026 a0001c0001t0003 a0001c0001t0006 a0001c0001t0026	a0001c0001t0003g0066 a0001c0001t0003g0255 a0001c0001t0003g0256 others(2): Show a0001c0001t0003g0066 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0006g0222 a0001c0001t0026g0198	5	274	0.0182	10	c.57 others(21): Show c.5735_*5736insCATACATACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2463		chr7	TogoVar
VPS41_chr7_38717974_38914191	38720516	A A	ATGTATGT others(3): Show ATGTATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02135.hp2 HG02970.hp1 others(2): Show HG02056.hp1 HG02135.hp2 HG02970.hp1 NA19007.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0012 a0001c0001t0045 others(1): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0045 a0001c0003t0003	a0001c0001t0006g0260 a0001c0001t0012g0239 a0001c0001t0012g0264 others(2): Show a0001c0001t0006g0260 a0001c0001t0012g0239 a0001c0001t0012g0264 a0001c0001t0045g0266 a0001c0003t0003g0071	5	243	0.0206	10	c.57 others(21): Show c.5729_*5730insCATACATACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2457		chr7	TogoVar
VPS41_chr7_38717974_38914191	38720520	A A	ATGTATGT others(3): Show ATGTATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01934.hp1 HG03490.hp2 others(9): Show HG01255.hp2 HG01934.hp1 HG03490.hp2 HG03540.hp2 HG03669.hp2 NA18945.hp1 NA18983.hp1 NA18991.hp1 NA19010.hp2 NA19012.hp1 NA19074.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0024 others(5): Show a0001c0001t0007 a0001c0001t0012 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0040	a0001c0001t0007g0205 a0001c0001t0007g0229 a0001c0001t0007g0230 others(9): Show a0001c0001t0007g0205 a0001c0001t0007g0229 a0001c0001t0007g0230 a0001c0001t0012g0210 a0001c0001t0012g0259 a0001c0001t0024g0079 a0001c0001t0025g0228 a0001c0001t0025g0253 a0001c0001t0026g0267 a0001c0001t0029g0240 a0001c0001t0030g0206 a0001c0001t0040g0202	12	255	0.0471	10	c.57 others(21): Show c.5725_*5726insCATACATACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2453		chr7	TogoVar
VPS41_chr7_38717974_38914191	38720524	A A	ATGTATGT others(3): Show ATGTATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02647.hp2 HG03491.hp1 others(3): Show HG02523.hp1 HG02647.hp2 HG03491.hp1 NA18988.hp2 NA19001.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0018 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0018 a0001c0001t0024 a0001c0001t0026	a0001c0001t0003g0251 a0001c0001t0006g0254 a0001c0001t0018g0227 others(3): Show a0001c0001t0003g0251 a0001c0001t0006g0254 a0001c0001t0018g0227 a0001c0001t0018g0237 a0001c0001t0024g0235 a0001c0001t0026g0245	6	258	0.0233	10	c.57 others(21): Show c.5721_*5722insCATACATACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2449		chr7	TogoVar
VPS41_chr7_38717974_38914191	38720534	A A	ATGTATGT others(3): Show ATGTATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02135.hp2 HG02165.hp1 others(3): Show HG02056.hp1 HG02135.hp2 HG02165.hp1 HG02970.hp1 NA18948.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0045 a0001c0003t0003	a0001c0001t0003g0242 a0001c0001t0006g0260 a0001c0001t0006g0268 others(3): Show a0001c0001t0003g0242 a0001c0001t0006g0260 a0001c0001t0006g0268 a0001c0001t0012g0258 a0001c0001t0045g0266 a0001c0003t0003g0071	6	252	0.0238	10	c.57 others(21): Show c.5711_*5712insCATACATACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2439		chr7	TogoVar
VPS41_chr7_38717974_38914191	38720538	A A	ATGTATGT others(3): Show ATGTATGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG02257.hp2 HG03490.hp2 others(2): Show HG01934.hp1 HG02257.hp2 HG03490.hp2 HG04228.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0025 a0001c0001t0030 others(2): Show a0001c0001t0003 a0001c0001t0025 a0001c0001t0030 a0001c0001t0040 a0001c0001t0041	a0001c0001t0003g0252 a0001c0001t0025g0253 a0001c0001t0030g0206 others(2): Show a0001c0001t0003g0252 a0001c0001t0025g0253 a0001c0001t0030g0206 a0001c0001t0040g0202 a0001c0001t0041g0247	5	258	0.0194	10	c.57 others(21): Show c.5707_*5708insCATACATACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2435		chr7	TogoVar

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