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
VNN2_chr6_132738870_132762904	132750497	G G	GTGTATGT others(19): Show GTGTATGTATATATGTGTATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0002 a0010c0011t0002	a0010c0011t0002g0069 a0010c0011t0002g0069	1	194	0.0052	26	c.120 others(43): Show c.1201-633_1201-632insTATATATATACACATATATACATACA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding	5/6			chr6	TogoVar
VOPP1_chr7_55465613_55577502	55564243	G G	GTCTCTCT others(19): Show GTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	43	0.0233	26	c.54+ others(41): Show c.54+8027_54+8028insGAGAGAGAGAGAGAGAGAGAGAGAGA	VOPP1	ENSG00000154978.13	transcript	ENST00000285279.10	protein_coding	1/4			chr7	TogoVar
VOPP1_chr7_55465613_55577502	55564243	G G	GTCTCTGT others(19): Show GTCTCTGTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	43	0.0233	26	c.54+ others(41): Show c.54+8027_54+8028insGAGAGAGAGAGAGAGAGAGACAGAGA	VOPP1	ENSG00000154978.13	transcript	ENST00000285279.10	protein_coding	1/4			chr7	TogoVar
VPS11_chr11_119062818_119086972	119086678	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0035 a0002c0007t0002g0035	1	218	0.0046	26	c.50 others(37): Show c.5055_*5056insAAAAAAAAATATATATATATATATAT	VPS11	ENSG00000160695.16	transcript	ENST00000621676.5	protein_coding		4707		chr11	TogoVar
VPS11_chr11_119062818_119086972	119086678	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0036 a0002c0007t0002g0036	1	218	0.0046	26	c.50 others(37): Show c.5055_*5056insAAAAAAATATATATATATATATATAT	VPS11	ENSG00000160695.16	transcript	ENST00000621676.5	protein_coding		4707		chr11	TogoVar
VPS13A_chr9_77172534_77426537	77207213	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	144	0.0069	26	c.385 others(43): Show c.385+1149_385+1174dupTATATATATATATATATATATATATA	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	5/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77341691	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0342 a0001c0007t0009g0342	1	57	0.0175	26	c.702 others(45): Show c.7026+1145_7026+1170dupTTTTTTTTTTTTTTTTTTTTTTTTTT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	50/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77400223	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0044 a0002c0024t0044	a0002c0024t0044g0167 a0002c0024t0044g0167	1	124	0.0081	26	c.919 others(45): Show c.9190-2991_9190-2990insTTTTTTTTTTTTTTTTTTTTTTTTTT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	68/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13B_chr8_99008274_99882580	99270131	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18984.hp1 HG03195.hp1 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0003 a0001c0001t0002 a0002c0003t0003	a0001c0001t0002g0050 a0002c0003t0003g0059 a0001c0001t0002g0050 a0002c0003t0003g0059	2	17	0.1176	26	c.251 others(45): Show c.2516-4066_2516-4041dupTTTTTTTTTTTTTTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	17/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99474183	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0005 a0016c0024t0005	a0016c0024t0005g0123 a0016c0024t0005g0123	1	59	0.0169	26	c.366 others(45): Show c.3666+6569_3666+6570insTTTTTTTTTTTTTTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	24/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99633806	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0124 a0001c0008t0005g0124	1	2	0.5000	26	c.522 others(45): Show c.5221-7997_5221-7972dupTGTGTGTGTGTGTGTGTGTGTGTGTG	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99793254	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0021 a0021	a0021c0026 a0021c0026	a0021c0026t0003 a0021c0026t0003	a0021c0026t0003g0126 a0021c0026t0003g0126	1	52	0.0192	26	c.794 others(45): Show c.7941+8784_7941+8809dupTATATATATATATATATATATATATA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	43/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99850346	C C	CATACATA others(19): Show CATACATAAGTACGCATGTATGTACTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	132	0.0076	26	c.100 others(47): Show c.10061+1459_10061+1460insAGTACGCATGTATGTACTTATACA TA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	55/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13C_chr15_61847389_62065447	61996994	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0025 a0001c0001t0019g0025	1	312	0.0032	26	c.135 others(45): Show c.1353+3569_1353+3570insATATATATATATATATATATATATAT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	16/84			chr15	TogoVar
VPS13C_chr15_61847389_62065447	62037252	T T	TTTATATA others(19): Show TTTATATATATTATATTATATAATATA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18994.hp1 NA19011.hp2 NA18969.hp1 NA18994.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312	3	344	0.0087	26	c.188 others(43): Show c.188-2226_188-2201dupTATATTATATAATATAATATATATAA	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	3/84			chr15	TogoVar
VPS13D_chr1_12225030_12517047	12396029	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0153 a0003c0007t0007g0153	1	74	0.0135	26	c.116 others(47): Show c.11635-4152_11635-4151insTATATATATATATATATATATATA TT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69			chr1	TogoVar
VPS13D_chr1_12225030_12517047	12396029	A A	ATATATAT others(19): Show ATATATATATATATATATATATGTATT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0004 a0001c0006t0003g0004	1	74	0.0135	26	c.116 others(47): Show c.11635-4152_11635-4151insTATATATATATATATATATATGTA TT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69			chr1	TogoVar
VPS13D_chr1_12225030_12517047	12433931	T T	TGAGAGAG others(19): Show TGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0002 a0001c0008t0003g0002	1	113	0.0088	26	c.123 others(49): Show c.12333+17123_12333+17124insAGAGAGAGAGAGAGAGAGAGAG AGAG	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	65/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS16_chr20_2835745_2871732	2854238	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp2 HG01934.hp2 others(7): Show HG00140.hp2 HG00673.hp2 HG01934.hp2 HG02809.hp1 HG03453.hp2 HG03579.hp2 NA18941.hp2 NA18947.hp2 NA18962.hp2 NA18973.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0001c0001 a0002c0016	a0001c0001t0001 a0002c0016t0001 a0001c0001t0001 a0002c0016t0001	a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0234 others(7): Show a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0279 a0002c0016t0001g0231	10	139	0.0719	26	c.54- others(41): Show c.54-5479_54-5454dupCACACACACACACACACACACACACA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2854264	C C	CACACACA others(19): Show CACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	404	0.0025	26	c.54- others(41): Show c.54-5454_54-5453insCACACACACACACACACACACACAAA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS26C_chr21_37218422_37272334	37255851	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	46	0.0217	26	c.57+ others(43): Show c.57+11386_57+11387insAAAAAAAAAAAAAAAAAAAAAAAAAA	VPS26C	ENSG00000157538.14	transcript	ENST00000309117.11	protein_coding	1/7			chr21	TogoVar
VPS33A_chr12_122224564_122271494	122239749	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18747.hp2 NA18974.hp1 HG00621.hp2 NA18747.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0202 a0001c0001t0006g0304 a0001c0001t0006g0307 a0001c0001t0002g0202 a0001c0001t0006g0304 a0001c0001t0006g0307	3	49	0.0612	26	c.116 others(43): Show c.1164+103_1164+128dupTTTTTTTTTTTTTTTTTTTTTTTTTT	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding	9/12			chr12	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACACACAC others(19): Show ACACACACACTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01081.hp2 others(11): Show HG00621.hp2 HG00735.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01256.hp2 HG01515.hp1 HG01517.hp1 HG02083.hp1 HG02300.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0141 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0003g0032 a0001c0001t0003g0033	14	21	0.6667	26	c.-28 others(37): Show c.-2826_-2825insAGAGAGAGAGAGAGAGAGTGTGTGTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACACACAC others(19): Show ACACACACTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01106.hp2 HG02818.hp1 others(2): Show HG00099.hp2 HG01106.hp2 HG02818.hp1 HG03098.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0120 a0001c0001t0001g0127 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0166 a0001c0001t0011g0024	5	12	0.4167	26	c.-28 others(37): Show c.-2826_-2825insAGAGAGAGAGAGAGAGAGAGTGTGTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS37B_chr12_122860330_122901124	122865058	T T	TACTTGGA others(19): Show TACTTGGACACCCTCTTGGACACCCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	264	0.0038	26	c.20 others(37): Show c.2057_*2058insTAGGGTGTCCAAGAGGGTGTCCAAGT	VPS37B	ENSG00000139722.7	transcript	ENST00000267202.7	protein_coding		271		chr12	TogoVar
VPS41_chr7_38717974_38914191	38720571	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0167 a0001c0001t0003g0167	1	276	0.0036	26	c.56 others(37): Show c.5674_*5675insGTATATATATATATATATATATATAT	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2402		chr7	TogoVar
VPS45_chr1_150062776_150150329	150088434	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	92	0.0109	26	c.110 others(45): Show c.1105-3481_1105-3480insATATATATATATATATATATATATAT	VPS45	ENSG00000136631.16	transcript	ENST00000644510.2	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS52_chr6_33245278_33276876	33263412	C C	CTCACACA others(19): Show CTCACACACACACACACACAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0060 a0002c0010t0002g0060	1	296	0.0034	26	c.179 others(41): Show c.1794+71_1794+72insCTCTCTCTGTGTGTGTGTGTGTGTGA	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS52_chr6_33245278_33276876	33263414	C C	CACACACA others(19): Show CACACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	128	0.0078	26	c.179 others(41): Show c.1794+69_1794+70insCTGTGTGTGTGTGTGTGTGTGTGTGT	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS52_chr6_33245278_33276876	33263414	C C	CACACACA others(19): Show CACACACACACACACACACACAGAGAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02258.hp2 HG02280.hp2 others(5): Show HG01192.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG06807.hp2 NA18948.hp1 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0003 a0001c0006t0003 a0001c0003t0003 a0001c0006t0003	a0001c0003t0003g0038 a0001c0003t0003g0039 a0001c0003t0003g0226 others(3): Show a0001c0003t0003g0038 a0001c0003t0003g0039 a0001c0003t0003g0226 a0001c0003t0003g0233 a0001c0003t0003g0234 a0001c0006t0003g0227	8	135	0.0593	26	c.179 others(41): Show c.1794+69_1794+70insCTCTCTGTGTGTGTGTGTGTGTGTGT	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS52_chr6_33245278_33276876	33263414	C C	CTCACACA others(19): Show CTCACACACACACACACACAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01168.hp1 HG01175.hp2 others(4): Show HG00642.hp1 HG01168.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG02148.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0056 a0001c0001t0002g0057 others(3): Show a0001c0001t0002g0020 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0002g0066	7	134	0.0522	26	c.179 others(41): Show c.1794+69_1794+70insCTCTCTCTGTGTGTGTGTGTGTGTGA	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS53_chr17_503668_719839	642794	A A	AAGGACAA others(19): Show AAGGACAACACTCATACTTGGAAAGCG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0022 a0001c0006t0022	a0001c0006t0022g0100 a0001c0006t0022g0101 a0001c0006t0022g0100 a0001c0006t0022g0101	2	206	0.0097	26	c.608 others(45): Show c.608+10471_608+10496dupCGCTTTCCAAGTATGAGTGTTGTCCT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
VPS53_chr17_503668_719839	643547	C C	CGAGGACA others(19): Show CGAGGACAACACTCATACTTGGCAACT	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18747.hp2 NA18955.hp2 others(2): Show HG01074.hp2 NA18747.hp2 NA18955.hp2 NA18984.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0011 a0001c0002 a0001c0005 a0001c0011	a0001c0002t0001 a0001c0002t0068 a0001c0002t0074 others(2): Show a0001c0002t0001 a0001c0002t0068 a0001c0002t0074 a0001c0005t0077 a0001c0011t0055	a0001c0002t0001g0094 a0001c0002t0068g0093 a0001c0002t0074g0095 others(2): Show a0001c0002t0001g0094 a0001c0002t0068g0093 a0001c0002t0074g0095 a0001c0005t0077g0092 a0001c0011t0055g0091	5	229	0.0218	26	c.608 others(43): Show c.608+9743_608+9744insAGTTGCCAAGTATGAGTGTTGTCCTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
VPS53_chr17_503668_719839	643668	C C	CTTGGAAA others(19): Show CTTGGAAAGCGAGGACAACACTCATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02602.hp1 HG03516.hp2 others(7): Show HG02135.hp2 HG02602.hp1 HG03516.hp2 NA18747.hp1 NA18960.hp2 NA18994.hp2 NA19000.hp2 NA19010.hp2 NA19087.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0075 a0001c0005t0010 a0001c0005t0021 others(6): Show a0001c0002t0075 a0001c0005t0010 a0001c0005t0021 a0001c0005t0044 a0001c0005t0046 a0001c0005t0047 a0001c0005t0048 a0001c0005t0049 a0001c0005t0050	a0001c0002t0075g0041 a0001c0005t0010g0007 a0001c0005t0010g0008 others(7): Show a0001c0002t0075g0041 a0001c0005t0010g0007 a0001c0005t0010g0008 a0001c0005t0021g0006 a0001c0005t0044g0044 a0001c0005t0046g0096 a0001c0005t0047g0009 a0001c0005t0048g0005 a0001c0005t0049g0010 a0001c0005t0050g0011	10	225	0.0444	26	c.608 others(43): Show c.608+9622_608+9623insATATGAGTGTTGTCCTCGCTTTCCAA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
VPS54_chr2_63887150_64024428	63970244	T T	TATATATA others(19): Show TATATATATATATATAGATATATATAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02809.hp1 NA20129.hp2 HG01167.hp2 HG02809.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067	3	123	0.0244	26	c.458 others(43): Show c.458-1254_458-1253insCTATATATATCTATATATATATATAT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	4/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	63970308	T T	TATATAGA others(19): Show TATATAGATATATATAGATATATATAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	302	0.0033	26	c.458 others(43): Show c.458-1318_458-1317insCTATATATATCTATATATATCTATAT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	4/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	64020148	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00642.hp2 others(25): Show HG00544.hp1 HG00597.hp2 HG00642.hp2 HG01074.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01516.hp1 HG01517.hp1 HG01993.hp1 HG02074.hp2 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03239.hp2 HG03579.hp1 HG03831.hp2 HG06807.hp2 NA18906.hp1 NA18943.hp2 NA18959.hp2 NA18963.hp1 NA18975.hp1 NA18985.hp1 NA19063.hp2 NA19068.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0003c0005t0001	a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0039 others(25): Show a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0254 a0002c0002t0001g0111 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0127 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0270 a0002c0002t0004g0129 a0003c0005t0001g0174	28	108	0.2593	26	c.-12 others(37): Show c.-1232_-1231insGTGTGTGTGTGTGTGTGTGTGTGTGT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding		721		chr2	TogoVar
VPS8_chr3_184807166_185057604	184842186	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03017.hp1 HG03540.hp2 others(2): Show HG00323.hp2 HG03017.hp1 HG03540.hp2 NA19070.hp2 NA19074.hp1	a0002 a0004 a0011 a0002 a0004 a0011	a0002c0002 a0004c0003 a0011c0039 a0002c0002 a0004c0003 a0011c0039	a0002c0002t0001 a0002c0002t0004 a0004c0003t0001 others(1): Show a0002c0002t0001 a0002c0002t0004 a0004c0003t0001 a0011c0039t0001	a0002c0002t0001g0171 a0002c0002t0001g0190 a0002c0002t0004g0211 others(2): Show a0002c0002t0001g0171 a0002c0002t0001g0190 a0002c0002t0004g0211 a0004c0003t0001g0076 a0011c0039t0001g0249	5	104	0.0481	26	c.536 others(43): Show c.536-1031_536-1030insAAAAAAAAAAAAAAAAAAAAAAAAAA	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184984194	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAACTCACCAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01256.hp1 others(11): Show HG00323.hp1 HG00639.hp2 HG01256.hp1 HG01433.hp1 HG02074.hp1 HG02258.hp1 HG02818.hp2 HG03139.hp2 NA18959.hp2 NA18974.hp2 NA18981.hp1 NA18986.hp2 NA18999.hp1 NA21309.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0004 a0003c0005 a0003c0033 others(3): Show a0003c0004 a0003c0005 a0003c0033 a0004c0008 a0005c0011 a0005c0028	a0003c0004t0001 a0003c0004t0005 a0003c0005t0001 others(4): Show a0003c0004t0001 a0003c0004t0005 a0003c0005t0001 a0003c0033t0005 a0004c0008t0003 a0005c0011t0004 a0005c0028t0004	a0003c0004t0001g0064 a0003c0004t0001g0066 a0003c0004t0005g0007 others(11): Show a0003c0004t0001g0064 a0003c0004t0001g0066 a0003c0004t0005g0007 a0003c0004t0005g0008 a0003c0004t0005g0010 a0003c0004t0005g0011 a0003c0004t0005g0012 a0003c0004t0005g0013 a0003c0004t0005g0014 a0003c0005t0001g0055 a0003c0033t0005g0004 a0004c0008t0003g0063 a0005c0011t0004g0259 a0005c0028t0004g0154	14	15	0.9333	26	c.358 others(45): Show c.3585+1100_3585+1101insAAAAAAAAAAAAAAAAACTCACCAAG	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	42/47			chr3	TogoVar
VRK1_chr14_96792382_96886609	96808017	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCCCTCTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG00738.hp1 others(24): Show HG00639.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01109.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01978.hp1 HG01993.hp1 HG02055.hp1 HG02257.hp1 HG02300.hp1 HG03831.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp2 NA18941.hp1 NA18946.hp2 NA19087.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0010 a0001c0003t0001g0011 others(19): Show a0001c0003t0001g0001 a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0015 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0079 a0001c0003t0001g0082	27	121	0.2231	26	c.-6+ others(43): Show c.-6+10571_-6+10572insCTCTCTCTCTCTCCCTCTGTGTGTGT	VRK1	ENSG00000100749.9	transcript	ENST00000216639.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
VSIG1_chrX_108040065_108084184	108047821	C C	CATATATA others(19): Show CATATATATACACATATATATATACAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19006.hp1 NA19072.hp1 NA19000.hp1 NA19006.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0103 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0103	3	268	0.0112	26	c.49+ others(41): Show c.49+2668_49+2693dupTATATATATACACATATATATATACA	VSIG1	ENSG00000101842.14	transcript	ENST00000217957.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
VSIG1_chrX_108040065_108084184	108047969	T T	TACACATA others(19): Show TACACATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03516.hp2 HG03486.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0194 a0001c0001t0001g0178 a0001c0001t0001g0194	2	255	0.0078	26	c.49+ others(41): Show c.49+2791_49+2792insCACATATATATATATATATATACACA	VSIG1	ENSG00000101842.14	transcript	ENST00000217957.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
VSIR_chr10_71742556_71778520	71759846	C C	CACACACA others(19): Show CACACACATATACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02145.hp2 HG00735.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0024 a0001c0004t0126 a0001c0004t0024 a0001c0004t0126	a0001c0004t0024g0247 a0001c0004t0126g0237 a0001c0004t0024g0247 a0001c0004t0126g0237	2	250	0.0080	26	c.568 others(43): Show c.568+1021_568+1022insATGTGTGTGTGTGTGTATATGTGTGT	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar
VSNL1_chr2_17535696_17662018	17642309	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0096 a0001c0001t0004g0096	1	71	0.0141	26	c.163 others(43): Show c.163-7084_163-7083insTTTTTTTTTTTTTTTTTTTTTTTTTT	VSNL1	ENSG00000163032.12	transcript	ENST00000295156.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
VSX2_chr14_74234449_74267738	74254784	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01346.hp2 HG01981.hp1 others(6): Show HG01168.hp1 HG01346.hp2 HG01981.hp1 HG02074.hp1 NA19001.hp2 NA19063.hp2 NA19080.hp1 NA19082.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0081 a0001c0001t0001g0108 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0081 a0001c0001t0001g0108 a0001c0001t0001g0127 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152	9	90	0.1000	26	c.580 others(43): Show c.580-4805_580-4804insTTTTTTTTTTTTTTTTTTTTTTTTTT	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
VTA1_chr6_142142263_142229685	142181092	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02056.hp2 HG00323.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0167 a0001c0001t0002g0018 a0001c0001t0002g0167	2	296	0.0068	26	c.412 others(43): Show c.412-8333_412-8332insTATATATATATATATATATATATATA	VTA1	ENSG00000009844.16	transcript	ENST00000367630.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
VTA1_chr6_142142263_142229685	142181094	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03831.hp1 NA18988.hp1 HG02074.hp2 HG03831.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0156 a0001c0001t0002g0176 a0001c0001t0002g0019 a0001c0001t0002g0156 a0001c0001t0002g0176	3	55	0.0545	26	c.412 others(43): Show c.412-8331_412-8330insAATATATATATATATATATATATATA	VTA1	ENSG00000009844.16	transcript	ENST00000367630.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
VTCN1_chr1_117138587_117215927	117157092	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG02683.hp1 others(5): Show HG01515.hp1 HG01517.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02965.hp2 HG03225.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0034 a0001c0001t0002g0056 a0001c0001t0002g0057 others(5): Show a0001c0001t0002g0034 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0156 a0001c0001t0003g0133 a0001c0001t0003g0138 a0001c0001t0003g0187 a0001c0001t0003g0191	8	133	0.0602	26	c.98- others(39): Show c.98-172_98-171insATATATATATATATATATATATATAT	VTCN1	ENSG00000134258.18	transcript	ENST00000369458.8	protein_coding	2/5			chr1	TogoVar
VTI1A_chr10_112442215_112823744	112537311	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01884.hp1 HG02523.hp2 others(3): Show HG00558.hp2 HG01884.hp1 HG02523.hp2 NA18947.hp1 NA18948.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0144 a0001c0001t0001g0160 a0001c0001t0002g0040 others(3): Show a0001c0001t0001g0144 a0001c0001t0001g0160 a0001c0001t0002g0040 a0001c0001t0002g0048 a0001c0001t0003g0044 a0001c0001t0008g0003	6	29	0.2069	26	c.343 others(41): Show c.343-933_343-908dupATATATATATATATATATATATATAT	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112618520	T T	TAGAGAGA others(19): Show TAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	96	0.0104	26	c.428 others(45): Show c.428-49697_428-49696insGAGAGAGAGAGAGAGAGAGAGAGAGA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar

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