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
VMP1_chr17_59702654_59847255	59772950	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0261 a0001c0001t0003g0261	1	17	0.0588	28	c.583 others(43): Show c.583-801_583-774dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	VMP1	ENSG00000062716.13	transcript	ENST00000262291.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
VN1R1_chr19_57449790_57462140	57457933	A A	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02165.hp2 HG02486.hp2 others(2): Show HG00544.hp1 HG02165.hp2 HG02486.hp2 HG04204.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0001c0001t0001g0000 a0002c0002t0001g0000	5	87	0.0575	28	c.-14 others(39): Show c.-1448_-1447insACACACACACACACACACACACACACAC	VN1R1	ENSG00000178201.5	transcript	ENST00000321039.5	protein_coding		794		chr19	TogoVar
VNN2_chr6_132738870_132762904	132758039	C C	CTTCTTCT others(21): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG03540.hp2 HG02630.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	2	208	0.0096	28	c.-15 others(37): Show c.-157_-156insAGAAGAAGAAGAAGAAGAAGAAGAAGAA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding		136		chr6	TogoVar
VPS11_chr11_119062818_119086972	119069999	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	54	0.0185	28	c.473 others(43): Show c.473-231_473-204dupTAAATAAATAAATAAATAAATAAATAAA	VPS11	ENSG00000160695.16	transcript	ENST00000621676.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
VPS13B_chr8_99008274_99882580	99270131	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03453.hp2 NA20129.hp1 HG03041.hp2 HG03453.hp2 NA20129.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0065 a0003c0004t0001g0066 a0003c0004t0001g0090 a0003c0004t0001g0065 a0003c0004t0001g0066 a0003c0004t0001g0090	3	18	0.1667	28	c.251 others(47): Show c.2516-4041_2516-4040insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	17/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99497305	T T	TAAAATAA others(21): Show TAAAATAATATGTATATATTTATATACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA19064.hp2 HG00408.hp1 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0077 a0001c0002t0001g0068 a0001c0002t0001g0077	2	132	0.0152	28	c.387 others(47): Show c.3871-4380_3871-4353dupAAATAATATGTATATATTTATATACA CA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	25/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99793254	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0128 a0003c0006t0004g0128	1	52	0.0192	28	c.794 others(47): Show c.7941+8782_7941+8809dupTATATATATATATATATATATATATA TA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	43/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99832341	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19064.hp1 NA19064.hp1	a0021 a0021	a0021c0026 a0021c0026	a0021c0026t0003 a0021c0026t0003	a0021c0026t0003g0126 a0021c0026t0003g0126	1	51	0.0196	28	c.933 others(41): Show c.9331-3_9331-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	51/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13D_chr1_12225030_12517047	12396029	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19066.hp1 HG03516.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0015 a0001c0003t0005 a0001c0002t0015 a0001c0003t0005	a0001c0002t0015g0057 a0001c0003t0005g0052 a0001c0002t0015g0057 a0001c0003t0005g0052	2	75	0.0267	28	c.116 others(49): Show c.11635-4152_11635-4151insTATATATATATATATATATATATA TATT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69			chr1	TogoVar
VPS13D_chr1_12225030_12517047	12396029	A A	ATATATAT others(21): Show ATATATATATATATATATATATATGTATT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0011 a0001c0008t0003g0011	1	74	0.0135	28	c.116 others(49): Show c.11635-4152_11635-4151insTATATATATATATATATATATATG TATT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69			chr1	TogoVar
VPS13D_chr1_12225030_12517047	12433931	T T	TGAGAGAG others(21): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp1 HG03492.hp2 HG01243.hp1 HG01361.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0010 a0001c0008t0003 a0001c0001t0010 a0001c0008t0003	a0001c0001t0010g0120 a0001c0008t0003g0011 a0001c0008t0003g0012 a0001c0001t0010g0120 a0001c0008t0003g0011 a0001c0008t0003g0012	3	115	0.0261	28	c.123 others(51): Show c.12333+17123_12333+17124insAGAGAGAGAGAGAGAGAGAGAG AGAGAG	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	65/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13D_chr1_12225030_12517047	12433949	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0122 a0001c0001t0021g0122	1	146	0.0068	28	c.123 others(51): Show c.12333+17123_12333+17124insAGAGAGAGAGAGAGAGAGAGAG AGTGTG	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	65/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(21): Show CGATAGATACATCTATCTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19085.hp1 NA18990.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0013 a0001c0003t0002g0013	2	178	0.0112	28	c.53+ others(43): Show c.53+2025_53+2026insCATCTATCTATCTATCGATAGATAGATA	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(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18951.hp1 NA18984.hp2 HG02809.hp2 NA18951.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0248 a0001c0001t0001g0030 a0001c0001t0001g0248	3	132	0.0227	28	c.54- others(43): Show c.54-5454_54-5453insCACACACACACACACACACACACACACA	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(21): Show CACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	404	0.0025	28	c.54- others(43): Show c.54-5454_54-5453insCACACACACACACACACACACACACAAA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS18_chr15_40889450_40908975	40905237	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0019 a0001c0005t0002g0019	1	254	0.0039	28	c.18 others(39): Show c.1896_*1897insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	VPS18	ENSG00000104142.11	transcript	ENST00000220509.10	protein_coding		1263		chr15	TogoVar
VPS26C_chr21_37218422_37272334	37255851	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0037 a0001c0001t0005g0037	2	47	0.0426	28	c.57+ others(45): Show c.57+11386_57+11387insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	VPS26C	ENSG00000157538.14	transcript	ENST00000309117.11	protein_coding	1/7			chr21	TogoVar
VPS35L_chr16_19550703_19706163	19666872	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	150	0.0067	28	c.222 others(47): Show c.2222-2253_2222-2226dupTCTTTCTTTCTTTCTTTCTTTCTTTC TT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666919	T T	TCTTCCTT others(21): Show TCTTCCTTTCTTCCTTTCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03669.hp1 HG02647.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0165 a0001c0001t0001g0003 a0001c0001t0001g0165	2	194	0.0103	28	c.222 others(47): Show c.2222-2238_2222-2237insCCTTTCTTCCTTTCTTCCTTTCTTCC TT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666927	T T	TCTTCCTT others(21): Show TCTTCCTTTCTTCCTTTCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02109.hp2 NA18975.hp2 others(2): Show HG00738.hp2 HG02109.hp2 NA18975.hp2 NA19007.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0002g0047 others(2): Show a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0002g0047 a0001c0003t0001g0071 a0001c0003t0001g0072	5	56	0.0893	28	c.222 others(47): Show c.2222-2230_2222-2229insCCTTTCTTCCTTTCTTCCTTTCTTCC TT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666927	T T	TCTTTCTT others(21): Show TCTTTCTTTCTTCCTTTCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG03471.hp1 HG02451.hp1 HG02451.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0009 a0001c0001 a0001c0003 a0002c0009	a0001c0001t0001 a0001c0003t0003 a0002c0009t0002 a0001c0001t0001 a0001c0003t0003 a0002c0009t0002	a0001c0001t0001g0011 a0001c0003t0003g0062 a0002c0009t0002g0187 a0001c0001t0001g0011 a0001c0003t0003g0062 a0002c0009t0002g0187	3	54	0.0556	28	c.222 others(47): Show c.2222-2226_2222-2225insTCTTCCTTTCTTCCTTTCTTCCTTTC TT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACACACAC others(21): Show ACACACACACACACACACACACACTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0160 a0001c0002t0008g0160	1	8	0.1250	28	c.-28 others(39): Show c.-2826_-2825insAGAGAGTGTGTGTGTGTGTGTGTGTGTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACACACAC others(21): Show ACACACACACACTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 NA18995.hp2 HG01071.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0039 a0001c0001t0001g0001 a0001c0001t0003g0039	2	9	0.2222	28	c.-28 others(39): Show c.-2826_-2825insAGAGAGAGAGAGAGAGAGTGTGTGTGTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACACACAC others(21): Show ACACACACACTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02683.hp1 HG04115.hp2 others(1): Show HG02129.hp1 HG02683.hp1 HG04115.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0074 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0074 a0001c0001t0003g0034	4	11	0.3636	28	c.-28 others(39): Show c.-2826_-2825insAGAGAGAGAGAGAGAGAGAGTGTGTGTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS35_chr16_46651132_46694178	46691958	A A	ACACACAC others(21): Show ACACACACTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01361.hp1 HG01123.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0106 a0001c0001t0001g0072 a0001c0001t0001g0106	2	9	0.2222	28	c.-28 others(39): Show c.-2826_-2825insAGAGAGAGAGAGAGAGAGAGAGTGTGTG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2781		chr16	TogoVar
VPS52_chr6_33245278_33276876	33263414	C C	CACACACA others(21): Show CACACACACACACACACACACACAGAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19066.hp1 HG01243.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0003 a0001c0006t0003 a0001c0003t0003 a0001c0006t0003	a0001c0003t0003g0235 a0001c0006t0003g0228 a0001c0003t0003g0235 a0001c0006t0003g0228	2	129	0.0155	28	c.179 others(43): Show c.1794+69_1794+70insCTCTCTGTGTGTGTGTGTGTGTGTGTGT	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS53_chr17_503668_719839	543813	A A	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18962.hp1 NA18957.hp1 NA18962.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0006 a0003c0004t0004 a0003c0004t0006	a0003c0004t0004g0014 a0003c0004t0006g0016 a0003c0004t0004g0014 a0003c0004t0006g0016	2	198	0.0101	28	c.186 others(47): Show c.1867-6638_1867-6637insCCCTCCCTCCCTTCCTTCCTTCCTTC CT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	662751	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02109.hp1 NA18906.hp1 others(3): Show HG01257.hp2 HG02109.hp1 NA18906.hp1 NA18950.hp2 NA18959.hp1 NA18977.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0006 a0003c0004t0003 a0003c0004t0006	a0003c0004t0003g0015 a0003c0004t0003g0036 a0003c0004t0003g0037 others(3): Show a0003c0004t0003g0015 a0003c0004t0003g0036 a0003c0004t0003g0037 a0003c0004t0006g0022 a0003c0004t0006g0024 a0003c0004t0006g0033	6	130	0.0462	28	c.286 others(43): Show c.286-857_286-856insTTCTTTCTTTCTTTCTTTCTTTCTTTCT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS53_chr17_503668_719839	662795	G G	GAAAGAAA others(21): Show GAAAGAAAGAAAGAGAAAGAAAGAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02132.hp1 NA18955.hp1 others(3): Show HG02129.hp1 HG02132.hp1 NA18955.hp1 NA18979.hp2 NA19066.hp2 NA19084.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0005c0009 a0002c0003 a0005c0009	a0002c0003t0019 a0002c0003t0040 a0002c0003t0089 others(3): Show a0002c0003t0019 a0002c0003t0040 a0002c0003t0089 a0002c0003t0140 a0005c0009t0131 a0005c0009t0139	a0002c0003t0019g0172 a0002c0003t0040g0168 a0002c0003t0089g0190 others(3): Show a0002c0003t0019g0172 a0002c0003t0040g0168 a0002c0003t0089g0190 a0002c0003t0140g0174 a0005c0009t0131g0189 a0005c0009t0139g0177	6	226	0.0265	28	c.286 others(43): Show c.286-901_286-900insTTTTTTCTTTCTTTCTCTTTCTTTCTTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS54_chr2_63887150_64024428	63960411	T T	TGAGATTT others(21): Show TGAGATTTATGTAACCCAATAAATCATAA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	302	0.0033	28	c.101 others(47): Show c.1010+1646_1010+1647insTTATGATTTATTGGGTTACATAAATC TC	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	7/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	64020148	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18947.hp1 NA20805.hp1 NA18942.hp2 NA18947.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0106 a0001c0001t0001g0108 a0002c0002t0001g0143 a0001c0001t0001g0106 a0001c0001t0001g0108 a0002c0002t0001g0143	3	83	0.0361	28	c.-12 others(39): Show c.-1232_-1231insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding		721		chr2	TogoVar
VPS8_chr3_184807166_185057604	184842186	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02027.hp2 HG02074.hp2 others(3): Show HG00544.hp1 HG02027.hp2 HG02074.hp2 HG02622.hp1 HG04228.hp1 NA18957.hp1	a0002 a0019 a0002 a0019	a0002c0002 a0019c0038 a0002c0002 a0019c0038	a0002c0002t0001 a0019c0038t0001 a0002c0002t0001 a0019c0038t0001	a0002c0002t0001g0170 a0002c0002t0001g0214 a0002c0002t0001g0219 others(3): Show a0002c0002t0001g0170 a0002c0002t0001g0214 a0002c0002t0001g0219 a0002c0002t0001g0247 a0002c0002t0001g0256 a0019c0038t0001g0243	6	105	0.0571	28	c.536 others(45): Show c.536-1031_536-1030insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	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(21): Show AAAAAAAAAAAAAAAAAAAACTCACCAAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02145.hp2 HG02559.hp1 others(13): Show HG01261.hp1 HG02145.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03195.hp2 HG03516.hp2 HG03579.hp1 NA18967.hp2 NA19030.hp2 NA20129.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0014	a0001c0025 a0001c0027 a0001c0029 others(8): Show a0001c0025 a0001c0027 a0001c0029 a0003c0004 a0003c0005 a0003c0012 a0004c0003 a0004c0008 a0005c0011 a0005c0026 a0014c0035	a0001c0025t0003 a0001c0027t0002 a0001c0029t0002 others(9): Show a0001c0025t0003 a0001c0027t0002 a0001c0029t0002 a0003c0004t0005 a0003c0005t0001 a0003c0012t0001 a0004c0003t0001 a0004c0003t0003 a0004c0008t0006 a0005c0011t0004 a0005c0026t0004 a0014c0035t0001	a0001c0025t0003g0022 a0001c0027t0002g0153 a0001c0029t0002g0166 others(13): Show a0001c0025t0003g0022 a0001c0027t0002g0153 a0001c0029t0002g0166 a0003c0004t0005g0005 a0003c0005t0001g0023 a0003c0005t0001g0027 a0003c0005t0001g0058 a0003c0012t0001g0002 a0003c0012t0001g0052 a0004c0003t0001g0018 a0004c0003t0001g0019 a0004c0003t0003g0033 a0004c0008t0006g0017 a0005c0011t0004g0258 a0005c0026t0004g0155 a0014c0035t0001g0056	16	17	0.9412	28	c.358 others(47): Show c.3585+1100_3585+1101insAAAAAAAAAAAAAAAAAAACTCACCA AG	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	42/47			chr3	TogoVar
VPS8_chr3_184807166_185057604	184984194	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAACCTCACCAAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0030 a0004c0003t0001g0030	1	2	0.5000	28	c.358 others(47): Show c.3585+1100_3585+1101insAAAAAAAAAAAAAAAAAACCTCACCA AG	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	42/47			chr3	TogoVar
VPS8_chr3_184807166_185057604	184984194	A A	AAAAAAAA others(21): Show AAAAAAAAAAAACAAAAAAACTCACCAAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02976.hp1 NA19000.hp1 HG02647.hp1 HG02976.hp1 NA19000.hp1	a0003 a0004 a0003 a0004	a0003c0015 a0004c0003 a0003c0015 a0004c0003	a0003c0015t0001 a0004c0003t0001 a0004c0003t0003 a0003c0015t0001 a0004c0003t0001 a0004c0003t0003	a0003c0015t0001g0071 a0004c0003t0001g0206 a0004c0003t0003g0070 a0003c0015t0001g0071 a0004c0003t0001g0206 a0004c0003t0003g0070	3	4	0.7500	28	c.358 others(47): Show c.3585+1100_3585+1101insAAAAAAAAAAACAAAAAAACTCACCA AG	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	42/47			chr3	TogoVar
VRK1_chr14_96792382_96886609	96808002	C C	CCTCTCTC others(21): Show CCTCTCTCCCTCTCTCCGTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp2 HG02257.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0104 a0001c0002t0001g0105	2	172	0.0116	28	c.-6+ others(45): Show c.-6+10562_-6+10563insCCTCTCTCCGTCTCTCTCTCTCTCTCTC	VRK1	ENSG00000100749.9	transcript	ENST00000216639.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
VRK1_chr14_96792382_96886609	96808017	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCCCTCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0059 a0001c0003t0001g0059	1	95	0.0105	28	c.-6+ others(45): Show c.-6+10571_-6+10572insCTCTCTCTCTCTCCCTCTGTGTGTGTGT	VRK1	ENSG00000100749.9	transcript	ENST00000216639.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
VRTN_chr14_74343471_74365008	74344246	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	4	0.2500	28	c.-44 others(39): Show c.-4408_-4407insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	VRTN	ENSG00000133980.5	transcript	ENST00000256362.5	protein_coding		4224		chr14	TogoVar
VSIG4_chrX_66016738_66045080	66037423	C C	CATATAAT others(21): Show CATATAATAATATAATATATAATATAATT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18948.hp1 HG02071.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	2	215	0.0093	28	c.55+ others(43): Show c.55+2493_55+2520dupAATTATATTATATATTATATTATTATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
VSIR_chr10_71742556_71778520	71759846	C C	CACACACA others(21): Show CACACACACATACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0097 a0001c0004t0097	a0001c0004t0097g0229 a0001c0004t0097g0229	1	249	0.0040	28	c.568 others(45): Show c.568+1021_568+1022insATGTGTGTGTGTGTGTGTATGTGTGTGT	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar
VSIR_chr10_71742556_71778520	71759846	C C	CACACACA others(21): Show CACACACACATATACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03516.hp2 HG04199.hp1 others(1): Show HG02056.hp2 HG03516.hp2 HG04199.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0129 a0001c0004t0035 a0001c0004t0113 others(1): Show a0001c0001t0129 a0001c0004t0035 a0001c0004t0113 a0001c0004t0127	a0001c0001t0129g0308 a0001c0004t0035g0232 a0001c0004t0113g0231 others(1): Show a0001c0001t0129g0308 a0001c0004t0035g0232 a0001c0004t0113g0231 a0001c0004t0127g0238	4	252	0.0159	28	c.568 others(45): Show c.568+1021_568+1022insATGTGTGTGTGTGTGTATATGTGTGTGT	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar
VSNL1_chr2_17535696_17662018	17642309	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02280.hp1 others(3): Show HG01891.hp2 HG02257.hp2 HG02280.hp1 HG02622.hp1 HG03041.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0017 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0017 a0001c0001t0035	a0001c0001t0004g0104 a0001c0001t0004g0106 a0001c0001t0004g0201 others(3): Show a0001c0001t0004g0104 a0001c0001t0004g0106 a0001c0001t0004g0201 a0001c0001t0006g0217 a0001c0001t0017g0080 a0001c0001t0035g0218	6	76	0.0789	28	c.163 others(45): Show c.163-7084_163-7083insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	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(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	82	0.0122	28	c.580 others(45): Show c.580-4805_580-4804insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
VTA1_chr6_142142263_142229685	142181094	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	53	0.0189	28	c.412 others(45): Show c.412-8331_412-8330insAAAATATATATATATATATATATATATA	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(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 NA18970.hp2 others(1): Show HG01257.hp2 HG01258.hp2 NA18970.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0019 a0001c0001t0002g0174 a0001c0001t0012g0008 a0001c0001t0002g0019 a0001c0001t0002g0174 a0001c0001t0012g0008	4	56	0.0714	28	c.412 others(45): Show c.412-8331_412-8330insAATATATATATATATATATATATATATA	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(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02965.hp1 HG03471.hp2 others(1): Show HG01106.hp2 HG02965.hp1 HG03471.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0040 a0001c0001t0003g0035 a0001c0001t0003g0119 others(1): Show a0001c0001t0002g0040 a0001c0001t0003g0035 a0001c0001t0003g0119 a0001c0001t0003g0149	4	129	0.0310	28	c.98- others(41): Show c.98-172_98-171insATATATATATATATATATATATATATAT	VTCN1	ENSG00000134258.18	transcript	ENST00000369458.8	protein_coding	2/5			chr1	TogoVar
VTI1A_chr10_112442215_112823744	112537311	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03098.hp1 HG01891.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0110 a0001c0001t0001g0075 a0001c0001t0001g0110	2	25	0.0800	28	c.343 others(43): Show c.343-908_343-907insATATATATATATATATATATATATATAT	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112545974	A A	ACGTATGT others(21): Show ACGTATGTGTGTGCATATACGTGTATACG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0066 a0001c0001t0009g0066	1	89	0.0112	28	c.427 others(45): Show c.427+7656_427+7657insCATATACGTGTATACGCGTATGTGTGTG	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112545974	A A	ACGTATGT others(21): Show ACGTATGTGTGTGTATATACGTGTATACG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01109.hp2 HG01243.hp2 others(13): Show HG00140.hp1 HG01109.hp2 HG01243.hp2 HG01433.hp1 HG01891.hp2 HG02559.hp1 HG02622.hp2 HG02735.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03688.hp2 HG03834.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0064 others(13): Show a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0097 a0001c0001t0001g0126 a0001c0001t0001g0142 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0083 a0001c0001t0004g0109 a0001c0001t0006g0132 a0001c0001t0007g0052 a0001c0001t0011g0127	16	104	0.1538	28	c.427 others(45): Show c.427+7740_427+7767dupGTATATACGTGTATACGCGTATGTGTGT	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112611737	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	1	30	0.0333	28	c.428 others(47): Show c.428-56459_428-56458insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar

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