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
VPS13A_chr9_77172534_77426537	77399181	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0080 a0001c0001t0008g0080	1	321	0.0031	-14	c.919 others(33): Show c.9190-4044_9190-4031delAAAAAAAAAAAAAA	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	68/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77401329	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0330 a0008c0017t0001g0330	1	57	0.0175	-14	c.919 others(33): Show c.9190-1875_9190-1862delGTGTGTGTGTGTGT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	68/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77422811	GTGTGTGC others(7): Show GTGTGTGCACACACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02895.hp2 HG03225.hp2 others(3): Show HG02630.hp2 HG02895.hp2 HG03225.hp2 HG03453.hp1 HG06807.hp1 NA19240.hp1	a0004 a0023 a0004 a0023	a0004c0009 a0023c0043 a0004c0009 a0023c0043	a0004c0009t0011 a0023c0043t0011 a0004c0009t0011 a0023c0043t0011	a0004c0009t0011g0147 a0004c0009t0011g0174 a0004c0009t0011g0179 others(3): Show a0004c0009t0011g0147 a0004c0009t0011g0174 a0004c0009t0011g0179 a0004c0009t0011g0180 a0004c0009t0011g0181 a0023c0043t0011g0182	6	346	0.0173	-14	c.68 others(25): Show c.6806_*6819delTGTGTGCACACACA	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding		1275		chr9	TogoVar
VPS13B_chr8_99008274_99882580	99354266	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	24	0.0417	-14	c.282 others(35): Show c.2825-29916_2825-29903delTTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99360176	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02165.hp1 NA18991.hp1 HG01106.hp2 HG02165.hp1 NA18991.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0003 a0001c0002t0001 a0002c0003t0003	a0001c0002t0001g0020 a0001c0002t0001g0030 a0002c0003t0003g0036 a0001c0002t0001g0020 a0001c0002t0001g0030 a0002c0003t0003g0036	3	131	0.0229	-14	c.282 others(35): Show c.2825-24028_2825-24015delTTCTTTCTTTCTCT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99360180	TTCTTTCT others(7): Show TTCTTTCTTTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	123	0.0081	-14	c.282 others(35): Show c.2825-24024_2825-24011delTTCTTTCTCTCTCT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99360202	CTCTCTCT others(7): Show CTCTCTCTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	131	0.0076	-14	c.282 others(35): Show c.2825-24002_2825-23989delCTCTCTTTCTTTCT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99360206	CTCTCTTT others(7): Show CTCTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	129	0.0078	-14	c.282 others(35): Show c.2825-23998_2825-23985delCTTTCTTTCTTTCT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99540013	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01978.hp1 HG01515.hp1 HG01517.hp2 HG01978.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0001c0002t0009 a0002c0003t0003 a0001c0002t0002 a0001c0002t0009 a0002c0003t0003	a0001c0002t0002g0046 a0001c0002t0009g0045 a0002c0003t0003g0101 a0001c0002t0002g0046 a0001c0002t0009g0045 a0002c0003t0003g0101	3	123	0.0244	-14	c.474 others(35): Show c.4746-16399_4746-16386delATATATATATATAT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	30/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99540053	ATATATAT others(7): Show ATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02074.hp1 HG01261.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0035 a0001c0002 a0001c0035	a0001c0002t0001 a0001c0035t0002 a0001c0002t0001 a0001c0035t0002	a0001c0002t0001g0079 a0001c0035t0002g0104 a0001c0002t0001g0079 a0001c0035t0002g0104	2	129	0.0155	-14	c.474 others(35): Show c.4746-16395_4746-16382delATATATATATTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	30/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99640049	GAGAAAAG others(7): Show GAGAAAAGAAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0121 a0001c0021t0001g0121	1	70	0.0143	-14	c.522 others(33): Show c.5221-1760_5221-1747delGAAAAGAAAAGAAA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99670246	GTAGAAAA others(7): Show GTAGAAAATGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp2 others(41): Show HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01106.hp2 HG01109.hp2 HG01256.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01934.hp2 HG01978.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02970.hp2 HG03195.hp2 HG03579.hp1 NA18522.hp1 NA18612.hp2 NA18950.hp1 NA18952.hp1 NA18984.hp2 NA18991.hp1 NA18992.hp2 NA19003.hp2 NA19004.hp1 NA19058.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19078.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0006 a0008 a0019 a0020	a0001c0001 a0001c0002 a0001c0008 others(8): Show a0001c0001 a0001c0002 a0001c0008 a0001c0011 a0001c0021 a0002c0003 a0005c0009 a0006c0027 a0008c0012 a0019c0017 a0020c0030	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(11): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0008t0005 a0001c0011t0002 a0001c0021t0001 a0002c0003t0003 a0002c0003t0007 a0005c0009t0004 a0005c0009t0006 a0006c0027t0001 a0008c0012t0002 a0019c0017t0001 a0020c0030t0001	a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0027 others(41): Show a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0020 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0042 a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0008t0005g0124 a0001c0008t0005g0125 a0001c0011t0002g0007 a0001c0021t0001g0121 a0002c0003t0003g0024 a0002c0003t0003g0036 a0002c0003t0007g0028 a0005c0009t0004g0120 a0005c0009t0006g0119 a0006c0027t0001g0019 a0008c0012t0002g0022 a0019c0017t0001g0012 a0020c0030t0001g0105	44	132	0.3333	-14	c.604 others(33): Show c.6046+8758_6046+8771delGAAAATGAGGAATA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	35/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99821103	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA20129.hp1 HG03041.hp2 NA20129.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0065 a0003c0004t0001g0066 a0003c0004t0001g0065 a0003c0004t0001g0066	2	16	0.1250	-14	c.899 others(31): Show c.8995-140_8995-127delACACACACACACAC	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	49/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99828392	CCGTTTTT others(7): Show CCGTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(46): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01243.hp1 HG01256.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02040.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp1 HG02897.hp2 HG02965.hp1 HG03139.hp1 HG03195.hp1 HG03579.hp2 HG03834.hp1 NA18612.hp1 NA18612.hp2 NA18950.hp1 NA18952.hp1 NA18984.hp2 NA18991.hp1 NA18992.hp2 NA19004.hp1 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA20129.hp2	a0001 a0002 a0006 others(6): Show a0001 a0002 a0006 a0008 a0010 a0018 a0019 a0020 a0021	a0001c0002 a0001c0016 a0002c0003 others(8): Show a0001c0002 a0001c0016 a0002c0003 a0002c0018 a0006c0027 a0008c0012 a0010c0025 a0018c0013 a0019c0017 a0020c0030 a0021c0026	a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 others(11): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0016t0004 a0002c0003t0003 a0002c0003t0008 a0002c0018t0003 a0006c0027t0001 a0008c0012t0002 a0010c0025t0010 a0018c0013t0001 a0019c0017t0001 a0020c0030t0001 a0021c0026t0003	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(46): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0020 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0042 a0001c0002t0001g0047 a0001c0002t0001g0068 a0001c0002t0001g0077 a0001c0002t0001g0096 a0001c0002t0002g0001 a0001c0002t0002g0011 a0001c0002t0002g0046 a0001c0002t0009g0015 a0001c0016t0004g0089 a0002c0003t0003g0024 a0002c0003t0003g0036 a0002c0003t0003g0057 a0002c0003t0003g0058 a0002c0003t0003g0059 a0002c0003t0003g0080 a0002c0003t0003g0086 a0002c0003t0003g0101 a0002c0003t0003g0111 a0002c0003t0008g0067 a0002c0003t0008g0071 a0002c0018t0003g0095 a0006c0027t0001g0019 a0008c0012t0002g0022 a0010c0025t0010g0108 a0018c0013t0001g0102 a0019c0017t0001g0012 a0020c0030t0001g0105 a0021c0026t0003g0126	49	95	0.5158	-14	c.933 others(33): Show c.9331-3976_9331-3963delCGTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	51/61			chr8	TogoVar
VPS13B_chr8_99008274_99882580	99854825	CTGCACTG others(7): Show CTGCACTGCCTGTCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0112 a0003c0004t0001g0112	1	132	0.0076	-14	c.108 others(33): Show c.10867+570_10867+583delTGCACTGCCTGTCT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	56/61			chr8	TogoVar
VPS13C_chr15_61847389_62065447	61961394	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01884.hp2 HG02486.hp2 others(1): Show HG00323.hp1 HG01884.hp2 HG02486.hp2 HG02572.hp2	a0001 a0013 a0023 a0001 a0013 a0023	a0001c0001 a0013c0016 a0023c0026 a0001c0001 a0013c0016 a0023c0026	a0001c0001t0002 a0013c0016t0010 a0023c0026t0027 a0001c0001t0002 a0013c0016t0010 a0023c0026t0027	a0001c0001t0002g0244 a0013c0016t0010g0010 a0013c0016t0010g0011 others(1): Show a0001c0001t0002g0244 a0013c0016t0010g0010 a0013c0016t0010g0011 a0023c0026t0027g0008	4	101	0.0396	-14	c.390 others(31): Show c.3908+181_3908+194delGTGTGTGTGTGTGT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	35/84			chr15	TogoVar
VPS13C_chr15_61847389_62065447	61980183	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0157 a0009c0010t0001g0157	1	113	0.0088	-14	c.216 others(33): Show c.2166+1145_2166+1158delTTTTTTTTTTTTTT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	22/84			chr15	TogoVar
VPS13D_chr1_12225030_12517047	12260015	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03017.hp1 HG03098.hp2 others(1): Show HG01106.hp1 HG03017.hp1 HG03098.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0015 a0001c0002t0004 others(1): Show a0001c0001t0002 a0001c0001t0015 a0001c0002t0004 a0001c0002t0015	a0001c0001t0002g0042 a0001c0001t0015g0069 a0001c0002t0004g0047 others(1): Show a0001c0001t0002g0042 a0001c0001t0015g0069 a0001c0002t0004g0047 a0001c0002t0015g0057	4	19	0.2105	-14	c.111 others(31): Show c.1111-663_1111-650delTTTTTTTTTTTTTT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	10/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12353675	GAATATCG others(7): Show GAATATCGATTGGAA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0013 a0001c0021t0013	a0001c0021t0013g0046 a0001c0021t0013g0046	1	152	0.0066	-14	c.943 others(31): Show c.9432-296_9432-283delTATCGATTGGAAAA	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	46/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12381968	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02273.hp2 HG02300.hp2 HG01943.hp2 HG02273.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113	3	152	0.0197	-14	c.111 others(34): Show c.11191-1004_11191-991delTTCTTTCTTTCTCT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	57/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS18_chr15_40889450_40908975	40899044	TGCCTGGG others(7): Show TGCCTGGGTGGGTGG	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03669.hp2 HG04204.hp1 HG02074.hp2 HG03669.hp2 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0039 a0001c0003t0002g0090 a0001c0003t0002g0039 a0001c0003t0002g0090	3	404	0.0074	-14	c.325 others(27): Show c.325+49_325+62delCTGGGTGGGTGGGC	VPS18	ENSG00000104142.11	transcript	ENST00000220509.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
VPS26A_chr10_69119178_69179412	69119337	TATATATA others(7): Show TATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	334	0.0030	-14	c.-49 others(25): Show c.-4940_-4927delATATATATATATAC	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding		4840		chr10	TogoVar
VPS26A_chr10_69119178_69179412	69160127	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18952.hp1 HG01346.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0234 a0001c0001t0004g0255 a0001c0001t0001g0234 a0001c0001t0004g0255	2	52	0.0385	-14	c.551 others(31): Show c.551+1944_551+1957delCACACACACACACA	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26C_chr21_37218422_37272334	37235851	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19054.hp2 NA19072.hp2 NA19005.hp1 NA19054.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0225 a0001c0001t0004g0035 a0001c0001t0004g0225	3	240	0.0125	-14	c.352 others(31): Show c.352-2423_352-2410delTATATATATATATA	VPS26C	ENSG00000157538.14	transcript	ENST00000309117.11	protein_coding	3/7			chr21	TogoVar
VPS33A_chr12_122224564_122271494	122239749	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG01169.hp2 others(4): Show HG01099.hp2 HG01106.hp2 HG01169.hp2 HG01515.hp2 HG01517.hp2 HG03942.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0226 a0001c0001t0001g0243 a0001c0001t0002g0013 others(3): Show a0001c0001t0001g0226 a0001c0001t0001g0243 a0001c0001t0002g0013 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162	7	53	0.1321	-14	c.116 others(31): Show c.1164+115_1164+128delTTTTTTTTTTTTTT	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	9/12			chr12	TogoVar
VPS33B_chr15_90993673_91027594	91017367	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(77): Show HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00738.hp1 HG01081.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG02074.hp2 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02683.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18943.hp1 NA18944.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19074.hp1 NA19084.hp1 NA19088.hp1 NA19090.hp2 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0010 a0001c0017 others(2): Show a0001c0001 a0001c0010 a0001c0017 a0001c0018 a0006c0014	a0001c0001t0001 a0001c0001t0003 a0001c0010t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0010t0001 a0001c0017t0001 a0001c0018t0001 a0006c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(52): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0116 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0224 a0001c0001t0003g0011 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0241 a0001c0010t0001g0156 a0001c0010t0001g0196 a0001c0017t0001g0186 a0001c0018t0001g0198 a0006c0014t0001g0200	80	207	0.3865	-14	c.178 others(29): Show c.178-357_178-344delATATATATATATAT	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding	2/22			chr15	TogoVar
VPS33B_chr15_90993673_91027594	91022836	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02622.hp2 HG02258.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0137 a0001c0001t0001g0138	2	54	0.0370	-14	c.-60 others(23): Show c.-601_-588delTTTTTTTTTTTTTT	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding		243		chr15	TogoVar
VPS35L_chr16_19550703_19706163	19570834	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00733.hp1 HG00735.hp2 others(7): Show HG00423.hp2 HG00733.hp1 HG00735.hp2 HG02735.hp1 HG03927.hp2 NA18961.hp2 NA19057.hp2 NA19065.hp2 NA19070.hp1 NA19084.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0015 a0001c0001 a0001c0002 a0004c0015	a0001c0001t0001 a0001c0002t0001 a0004c0015t0001 a0001c0001t0001 a0001c0002t0001 a0004c0015t0001	a0001c0001t0001g0044 a0001c0001t0001g0242 a0001c0001t0001g0273 others(7): Show a0001c0001t0001g0044 a0001c0001t0001g0242 a0001c0001t0001g0273 a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0036 a0004c0015t0001g0021	10	28	0.3571	-14	c.285 others(31): Show c.285+1286_285+1299delATATATATATATAT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19674184	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp2 HG03516.hp2 HG02145.hp1 HG02622.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0011t0007 a0001c0001t0001 a0001c0001t0003 a0001c0011t0007	a0001c0001t0001g0185 a0001c0001t0003g0275 a0001c0011t0007g0276 a0001c0001t0001g0185 a0001c0001t0003g0275 a0001c0011t0007g0276	3	152	0.0197	-14	c.236 others(33): Show c.2361+4897_2361+4910delTTTTTTTTTTTTTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	27/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS37B_chr12_122860330_122901124	122899050	AACACACA others(7): Show AACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(132): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18966.hp1 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19011.hp1 NA19030.hp1 NA19055.hp1 NA19067.hp1 NA19068.hp1 NA19079.hp2 NA19082.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0019	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(102): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0209 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0035 a0001c0001t0002g0043 a0001c0001t0002g0142 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0189 a0001c0001t0002g0199 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0208 a0001c0001t0004g0206 a0001c0001t0005g0088 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0007g0086 a0001c0001t0008g0073 a0001c0001t0009g0141 a0001c0001t0011g0110 a0001c0001t0016g0068 a0001c0001t0019g0151	135	141	0.9574	-14	c.-30 others(25): Show c.-3002_-2989delGTGTGTGTGTGTGT	VPS37B	ENSG00000139722.7	transcript	ENST00000267202.7	protein_coding		2927		chr12	TogoVar
VPS37D_chr7_73662831_73677110	73665234	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	37	0.0270	-14	c.-27 others(25): Show c.-2724_-2711delAAAAAAAAAAAAAA	VPS37D	ENSG00000176428.6	transcript	ENST00000324941.5	protein_coding		2596		chr7	TogoVar
VPS37D_chr7_73662831_73677110	73668176	CGGGCCGG others(7): Show CGGGCCGGGCCGCGG	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG04184.hp2 HG02698.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	378	0.0053	-14	c.138 others(27): Show c.138+83_138+96delGCCGGGCCGCGGGG	VPS37D	ENSG00000176428.6	transcript	ENST00000324941.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS41_chr7_38717974_38914191	38720558	GTGTGTAT others(7): Show GTGTGTATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02056.hp2 HG02300.hp1 others(3): Show HG00423.hp1 HG02056.hp2 HG02300.hp1 NA18522.hp1 NA18967.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0027 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0027 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0005g0041 a0001c0001t0005g0052 others(3): Show a0001c0001t0001g0001 a0001c0001t0005g0041 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0027g0037 a0001c0002t0002g0054	6	221	0.0271	-14	c.56 others(25): Show c.5674_*5687delTATATATATACACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2415		chr7	TogoVar
VPS41_chr7_38717974_38914191	38720562	GTATATAT others(7): Show GTATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01109.hp1 HG02647.hp1 others(4): Show HG01106.hp1 HG01109.hp1 HG02647.hp1 HG02738.hp2 NA18747.hp1 NA18999.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0001t0014 a0001c0003t0011 a0001c0001t0009 a0001c0001t0014 a0001c0003t0011	a0001c0001t0009g0021 a0001c0001t0009g0179 a0001c0001t0014g0051 others(4): Show a0001c0001t0009g0021 a0001c0001t0009g0179 a0001c0001t0014g0051 a0001c0001t0014g0123 a0001c0001t0014g0236 a0001c0003t0011g0088 a0001c0003t0011g0093	7	178	0.0393	-14	c.56 others(25): Show c.5670_*5683delTATATATATATATA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2411		chr7	TogoVar
VPS41_chr7_38717974_38914191	38853622	TGAACCCC others(7): Show TGAACCCCAAAGAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00558.hp2 others(93): Show HG00099.hp1 HG00438.hp2 HG00558.hp2 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02647.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18988.hp2 NA18991.hp1 NA18993.hp2 NA18999.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19074.hp2 NA19076.hp2 NA19083.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0004 a0005c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(33): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0060 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0003t0031 a0001c0006t0009 a0002c0004t0001 a0002c0004t0009 a0005c0012t0051	a0001c0001t0002g0215 a0001c0001t0003g0057 a0001c0001t0003g0058 others(91): Show a0001c0001t0002g0215 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0218 a0001c0001t0003g0223 a0001c0001t0003g0226 a0001c0001t0003g0234 a0001c0001t0003g0242 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0265 a0001c0001t0004g0207 a0001c0001t0005g0243 a0001c0001t0006g0063 a0001c0001t0006g0214 a0001c0001t0006g0222 a0001c0001t0006g0233 a0001c0001t0006g0241 a0001c0001t0006g0248 a0001c0001t0006g0249 a0001c0001t0006g0254 a0001c0001t0006g0260 a0001c0001t0006g0268 a0001c0001t0007g0055 a0001c0001t0007g0065 a0001c0001t0007g0078 a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0007g0216 a0001c0001t0007g0229 a0001c0001t0007g0230 a0001c0001t0008g0246 a0001c0001t0012g0210 a0001c0001t0012g0239 a0001c0001t0012g0258 a0001c0001t0012g0259 a0001c0001t0012g0264 a0001c0001t0013g0080 a0001c0001t0013g0081 a0001c0001t0013g0212 a0001c0001t0013g0231 a0001c0001t0013g0232 a0001c0001t0014g0236 a0001c0001t0014g0238 a0001c0001t0016g0061 a0001c0001t0018g0099 a0001c0001t0018g0200 a0001c0001t0018g0227 a0001c0001t0018g0237 a0001c0001t0023g0208 a0001c0001t0024g0079 a0001c0001t0024g0203 a0001c0001t0024g0235 a0001c0001t0025g0228 a0001c0001t0025g0253 a0001c0001t0026g0198 a0001c0001t0026g0245 a0001c0001t0026g0267 a0001c0001t0028g0197 a0001c0001t0029g0209 a0001c0001t0029g0240 a0001c0001t0030g0206 a0001c0001t0039g0221 a0001c0001t0040g0202 a0001c0001t0041g0247 a0001c0001t0042g0056 a0001c0001t0043g0199 a0001c0001t0044g0060 a0001c0001t0045g0266 a0001c0001t0060g0271 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0163 a0001c0002t0004g0174 a0001c0002t0004g0201 a0001c0002t0008g0211 a0001c0002t0010g0244 a0001c0003t0031g0257 a0001c0006t0009g0006 a0002c0004t0001g0005 a0002c0004t0001g0219 a0002c0004t0001g0224 a0002c0004t0001g0261 a0002c0004t0001g0262 a0002c0004t0001g0263 a0002c0004t0009g0220 a0005c0012t0051g0217	96	276	0.3478	-14	c.246 others(31): Show c.246+8909_246+8922delTTTCTTTGGGGTTC	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	4/28			chr7	TogoVar
VPS41_chr7_38717974_38914191	38860697	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0031 a0001c0005t0031	a0001c0005t0031g0098 a0001c0005t0031g0098	1	18	0.0556	-14	c.246 others(31): Show c.246+1834_246+1847delCACACACACACACA	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	4/28			chr7	TogoVar
VPS45_chr1_150062776_150150329	150140386	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02723.hp2 HG02809.hp1 others(4): Show HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02922.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(4): Show a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013	7	54	0.1296	-14	c.162 others(33): Show c.1626-4294_1626-4281delGTGTGTGTGTGTGT	VPS45	ENSG00000136631.16	transcript	ENST00000644510.2	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS4A_chr16_69306350_69331939	69310070	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01168.hp1 HG01169.hp1 others(22): Show HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01496.hp2 HG02572.hp1 HG02602.hp2 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG02896.hp1 HG03017.hp2 HG03139.hp1 HG03486.hp2 HG03491.hp1 HG03540.hp1 HG06807.hp2 NA18906.hp1 NA18980.hp1 NA18992.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19030.hp2 NA19087.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0006 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0010 a0001c0002t0014 a0001c0002t0015 a0001c0002t0023 a0001c0002t0034	a0001c0001t0001g0048 a0001c0001t0001g0180 a0001c0001t0001g0182 others(21): Show a0001c0001t0001g0048 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0002t0002g0005 a0001c0002t0002g0010 a0001c0002t0002g0017 a0001c0002t0002g0027 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0088 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0199 a0001c0002t0006g0030 a0001c0002t0006g0101 a0001c0002t0010g0100 a0001c0002t0014g0081 a0001c0002t0014g0090 a0001c0002t0015g0097 a0001c0002t0015g0098 a0001c0002t0023g0087 a0001c0002t0034g0071	25	58	0.4310	-14	c.-14 others(25): Show c.-1441_-1428delTTTTTTTTTTTTTT	VPS4A	ENSG00000132612.16	transcript	ENST00000254950.13	protein_coding		1279		chr16	TogoVar
VPS50_chr7_93227366_93366123	93252350	GTTTAGGT others(7): Show GTTTAGGTAGTCACT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0268 a0001c0002t0004g0268	1	314	0.0032	-14	c.103 others(29): Show c.103-299_103-286delAGGTAGTCACTTTT	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS51_chr11_65091214_65116862	65113245	CCTGTTGG others(7): Show CCTGTTGGTGGGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	348	0.0029	-14	c.16 others(25): Show c.1659_*1672delCTGTTGGTGGGGCT	VPS51	ENSG00000149823.10	transcript	ENST00000279281.8	protein_coding		1384		chr11	TogoVar
VPS52_chr6_33245278_33276876	33245913	TCACACAC others(7): Show TCACACACACACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA19066.hp1 NA18948.hp1 NA19066.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0227 a0001c0006t0003g0228 a0001c0006t0003g0227 a0001c0006t0003g0228	2	98	0.0204	-14	c.49 others(25): Show c.4914_*4927delTGTGTGTGTGTGTG	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding		4364		chr6	TogoVar
VPS52_chr6_33245278_33276876	33256463	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02622.hp2 HG02970.hp2 others(3): Show HG01123.hp2 HG02622.hp2 HG02970.hp2 HG03453.hp2 HG03471.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0032 a0001c0001t0001g0009 a0001c0001t0001g0032	6	48	0.1250	-14	c.179 others(33): Show c.1795-4506_1795-4493delTTTTTTTTTTTTTT	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS52_chr6_33245278_33276876	33270950	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG01168.hp1 others(29): Show HG00099.hp1 HG00642.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01993.hp1 HG01993.hp2 HG02148.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG04199.hp2 NA18939.hp2 NA18942.hp2 NA18954.hp1 NA18963.hp2 NA18966.hp2 NA18978.hp2 NA18983.hp1 NA18987.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19055.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0002 a0002c0010t0002 a0001c0001t0002 a0002c0010t0002	a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 others(26): Show a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0002c0010t0002g0060	32	140	0.2286	-14	c.90+ others(27): Show c.90+622_90+635delTTTTTTTTTTTTTT	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	1/19			chr6	TogoVar
VPS53_chr17_503668_719839	524283	CATAAAAA others(7): Show CATAAAAAATAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03516.hp2 HG02572.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0075 a0001c0014t0128 a0001c0002t0075 a0001c0014t0128	a0001c0002t0075g0041 a0001c0014t0128g0166 a0001c0002t0075g0041 a0001c0014t0128g0166	2	230	0.0087	-14	c.208 others(33): Show c.2086-2559_2086-2546delTTTTTATTTTTTAT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	19/21			chr17	TogoVar
VPS53_chr17_503668_719839	545897	CAAAACAG others(7): Show CAAAACAGTGTTGAA	C C	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0122 a0007c0012t0122	a0007c0012t0122g0140 a0007c0012t0122g0140	1	230	0.0043	-14	c.186 others(33): Show c.1866+5961_1866+5974delTTCAACACTGTTTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	610127	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01257.hp2 others(20): Show HG00438.hp1 HG00741.hp2 HG01257.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG02074.hp1 HG02109.hp1 HG02300.hp2 HG03831.hp2 HG04184.hp2 NA18906.hp1 NA18944.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18977.hp1 NA18984.hp1 NA18986.hp2 NA19079.hp2 NA19087.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0003c0004	a0001c0001t0070 a0001c0001t0110 a0001c0001t0116 others(9): Show a0001c0001t0070 a0001c0001t0110 a0001c0001t0116 a0001c0002t0038 a0001c0002t0045 a0001c0007t0012 a0003c0004t0003 a0003c0004t0004 a0003c0004t0006 a0003c0004t0023 a0003c0004t0063 a0003c0004t0067	a0001c0001t0070g0012 a0001c0001t0110g0122 a0001c0001t0116g0211 others(20): Show a0001c0001t0070g0012 a0001c0001t0110g0122 a0001c0001t0116g0211 a0001c0002t0038g0219 a0001c0002t0045g0064 a0001c0007t0012g0107 a0001c0007t0012g0110 a0003c0004t0003g0015 a0003c0004t0003g0018 a0003c0004t0003g0036 a0003c0004t0003g0037 a0003c0004t0003g0043 a0003c0004t0004g0014 a0003c0004t0004g0019 a0003c0004t0004g0032 a0003c0004t0004g0040 a0003c0004t0006g0016 a0003c0004t0006g0022 a0003c0004t0006g0023 a0003c0004t0006g0024 a0003c0004t0023g0004 a0003c0004t0063g0039 a0003c0004t0067g0042	23	25	0.9200	-14	c.111 others(33): Show c.1117-8245_1117-8232delTGTGTGTGTGTGTG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VPS53_chr17_503668_719839	629809	CCACACAC others(7): Show CCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00438.hp2 others(32): Show HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00621.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01167.hp1 HG01928.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02293.hp1 HG02300.hp1 HG02738.hp2 HG03491.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp1 NA18612.hp1 NA18946.hp1 NA18955.hp1 NA18957.hp2 NA18979.hp2 NA18983.hp1 NA19000.hp1 NA19010.hp1 NA19074.hp1 NA19080.hp2 NA19084.hp2 NA19090.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0003 a0004c0008 a0005c0009 a0002c0003 a0004c0008 a0005c0009	a0002c0003t0008 a0002c0003t0009 a0002c0003t0018 others(23): Show a0002c0003t0008 a0002c0003t0009 a0002c0003t0018 a0002c0003t0019 a0002c0003t0030 a0002c0003t0039 a0002c0003t0040 a0002c0003t0082 a0002c0003t0086 a0002c0003t0087 a0002c0003t0088 a0002c0003t0089 a0002c0003t0090 a0002c0003t0096 a0002c0003t0124 a0002c0003t0129 a0002c0003t0132 a0002c0003t0133 a0002c0003t0136 a0002c0003t0137 a0002c0003t0138 a0002c0003t0140 a0002c0003t0142 a0004c0008t0039 a0005c0009t0123 a0005c0009t0131	a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 others(32): Show a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 a0002c0003t0008g0217 a0002c0003t0009g0185 a0002c0003t0009g0186 a0002c0003t0009g0188 a0002c0003t0009g0218 a0002c0003t0018g0179 a0002c0003t0019g0172 a0002c0003t0019g0214 a0002c0003t0019g0231 a0002c0003t0030g0169 a0002c0003t0030g0181 a0002c0003t0039g0176 a0002c0003t0040g0168 a0002c0003t0082g0184 a0002c0003t0086g0175 a0002c0003t0087g0171 a0002c0003t0088g0209 a0002c0003t0089g0190 a0002c0003t0090g0173 a0002c0003t0096g0192 a0002c0003t0124g0193 a0002c0003t0129g0216 a0002c0003t0132g0167 a0002c0003t0133g0194 a0002c0003t0136g0215 a0002c0003t0137g0187 a0002c0003t0138g0170 a0002c0003t0140g0174 a0002c0003t0142g0191 a0004c0008t0039g0207 a0005c0009t0123g0178 a0005c0009t0131g0189	35	44	0.7955	-14	c.688 others(31): Show c.688-1592_688-1579delTGTGTGTGTGTGTG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	8/21			chr17	TogoVar
VPS8_chr3_184807166_185057604	184962724	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG03486.hp1 HG02622.hp2 HG02630.hp2 HG03486.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0050 a0004c0006t0003g0051 a0004c0006t0003g0053 a0004c0006t0003g0050 a0004c0006t0003g0051 a0004c0006t0003g0053	3	15	0.2000	-14	c.318 others(33): Show c.3184-1715_3184-1702delGTGTGTGTGTGTGT	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	37/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK2_chr2_58041806_58164871	58107492	CTTCCTAG others(7): Show CTTCCTAGTATAATT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp1 HG02109.hp2 HG02970.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0116 a0003c0005t0001g0117 a0003c0005t0001g0116 a0003c0005t0001g0117	2	338	0.0059	-14	c.544 others(33): Show c.544-15605_544-15592delCTAGTATAATTTTC	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58120179	CTTTTCTT others(7): Show CTTTTCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG02647.hp1 others(7): Show HG01891.hp1 HG02572.hp2 HG02647.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0012 others(7): Show a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0012 a0001c0003t0001g0015 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0004g0011 a0001c0003t0004g0013 a0001c0003t0004g0014	10	330	0.0303	-14	c.544 others(31): Show c.544-2917_544-2904delCTTTTTTTTTTTTT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar

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