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
UPK3A_chr22_45279949_45300874	45282071	G G	GAAGAAGA others(35): Show GAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0023 a0001c0003t0001g0023	1	442	0.0023	42	c.-29 others(53): Show c.-2943_-2942insAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGA AGAAGAGA	UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding		2877		chr22	TogoVar
UPK3BL1_chr7_102632025_102647791	102646940	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01433.hp2 NA18947.hp2 others(5): Show HG01081.hp2 HG01433.hp2 NA18947.hp2 NA18965.hp1 NA18970.hp2 NA19062.hp2 NA19075.hp2 NA19085.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0009	a0001c0001 a0003c0004 a0005c0006 others(1): Show a0001c0001 a0003c0004 a0005c0006 a0009c0007	a0001c0001t0001 a0003c0004t0009 a0005c0006t0001 others(1): Show a0001c0001t0001 a0003c0004t0009 a0005c0006t0001 a0009c0007t0016	a0001c0001t0001g0010 a0001c0001t0001g0069 a0001c0001t0001g0087 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0069 a0001c0001t0001g0087 a0003c0004t0009g0083 a0005c0006t0001g0092 a0005c0006t0001g0093 a0009c0007t0016g0084	8	125	0.0640	42	c.-42 others(53): Show c.-4200_-4199insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4150		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547832	G G	GAAAAAGA others(35): Show GAAAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	30	0.0333	42	c.-41 others(53): Show c.-4197_-4196insTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCT TTCTTTTT	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4137		chr7	TogoVar
UQCC1_chr20_35297578_35416973	35352629	G G	GATGATCC others(35): Show GATGATCCTGACCTGGTAGAGGCCTAGGCTAATGTGAGTGTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	254	0.0039	42	c.465 others(59): Show c.465-5399_465-5358dupAAACACTCACATTAGCCTAGGCCTCTAC CAGGTCAGGATCAT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	6/9			chr20	TogoVar
URAD_chr13_27972717_27993693	27991293	G G	GTATAGTT others(35): Show GTATAGTTATATGTATATGTATAGGTGTAGGTGTAGGTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 NA18906.hp2 NA19043.hp2 HG03579.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0128 a0001c0001t0002g0021 a0001c0001t0002g0128	3	424	0.0071	42	c.-26 others(53): Show c.-2657_-2656insACTATACCTACACCTACACCTATACATATACATA TAACTATA	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2601		chr13	TogoVar
USP17L25_chr4_9324911_9336503	9325483	T T	TACATGCT others(35): Show TACATGCTGTCCCGGGAGCACTCTCAAACGTGTCATCGTCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0000 a0002c0017t0001g0000	1	32	0.0313	42	c.-44 others(53): Show c.-4428_-4427insACATGCTGTCCCGGGAGCACTCTCAAACGTGTCA TCGTCACA	USP17L25	ENSG00000230430.5	transcript	ENST00000509271.1	protein_coding		4427		chr4	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0077	1	43	0.0233	42	c.-77 others(61): Show c.-77+25840_-77+25841insAAAAAATATATATATATATATATATA TATATATATATATATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ATATATAT others(35): Show ATATATATATACATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0155 a0001c0004t0004g0155	1	116	0.0086	42	c.84- others(57): Show c.84-1281_84-1280insATATATATACATATATATATATATATATAT ATATTTTTTTTT	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ATATATAT others(35): Show ATATATATATACATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA18943.hp1 HG01516.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0138 a0001c0001t0001g0002 a0001c0001t0001g0138	2	117	0.0171	42	c.84- others(57): Show c.84-1281_84-1280insATATATATACATATATATATATATATATAT ATTTTTTTTTTT	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
USP36_chr17_78790652_78845814	78834997	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0001 a0013c0016t0001	a0013c0016t0001g0263 a0013c0016t0001g0263	1	70	0.0143	42	c.475 others(57): Show c.475+282_475+283insTATATATATATATATATATATATATATATA TATATATATATA	USP36	ENSG00000055483.20	transcript	ENST00000449938.7	protein_coding	4/20			chr17	TogoVar
USP40_chr2_233470526_233571782	233494962	A A	ATATATAT others(35): Show ATATATATATTTATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0115 a0002c0002t0001g0115	1	275	0.0036	42	c.279 others(61): Show c.2791-1412_2791-1411insAATATATATATATATATATATATATA TATATAAATATATATA	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding	24/31			chr2	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	AGATATAT others(35): Show AGATATATATATATATATATATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18963.hp2 NA18993.hp1 others(1): Show NA18939.hp2 NA18963.hp2 NA18993.hp1 NA19081.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0033 a0001c0004t0005 a0001c0004t0033	a0001c0004t0005g0322 a0001c0004t0005g0323 a0001c0004t0005g0324 others(1): Show a0001c0004t0005g0322 a0001c0004t0005g0323 a0001c0004t0005g0324 a0001c0004t0033g0325	4	235	0.0170	42	c.-94 others(59): Show c.-941-410_-941-409insGATATATATATATATATATATGTGTGTG TGTGTGTGTGTGTG	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18			chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(35): Show ATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03453.hp1 NA18522.hp2 HG02965.hp2 HG03453.hp1 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0009 a0001c0003 a0003c0009	a0001c0003t0004 a0003c0009t0023 a0003c0009t0040 a0001c0003t0004 a0003c0009t0023 a0003c0009t0040	a0001c0003t0004g0316 a0003c0009t0023g0222 a0003c0009t0040g0236 a0001c0003t0004g0316 a0003c0009t0023g0222 a0003c0009t0040g0236	3	234	0.0128	42	c.-94 others(59): Show c.-941-409_-941-408insATATATATATATATGTGTGTGTGTGTGT GTGTGTGTGTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(35): Show ATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0023 a0003c0009t0023	a0003c0009t0023g0229 a0003c0009t0023g0229	1	232	0.0043	42	c.-94 others(59): Show c.-941-409_-941-408insATATATATATATGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(35): Show ATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0249 a0001c0003t0004g0249	1	232	0.0043	42	c.-94 others(59): Show c.-941-409_-941-408insATATATATATGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
USP9X_chrX_41080445_41241579	41125684	A A	ACACACAC others(35): Show ACACACACACACACACACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	64	0.0156	42	c.96+ others(57): Show c.96+1961_96+1962insACACACACACACACACACACACACTCTCTC TCTCTCTCTCTC	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	2/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
UVSSA_chr4_1342208_1393049	1349077	T T	TGGGCGTT others(35): Show TGGGCGTTTGTGCCGGGCGGTGTACGGTTTGTGCCGGGCGGTG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0091 a0001c0003t0004g0091	1	398	0.0025	42	c.99- others(55): Show c.99-425_99-424insACGGTTTGTGCCGGGCGGTGGGGCGTTTGTGC CGGGCGGTGT	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
UXS1_chr2_106088311_106199301	106094212	C C	CGCAGGAA others(35): Show CGCAGGAAGGAAGTGCCACCTTGCAGGAAGGAAGTGCCACCTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG02976.hp1 HG02145.hp1 HG02970.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0091 a0001c0001t0001g0158 a0001c0001t0001g0031 a0001c0001t0001g0091 a0001c0001t0001g0158	3	101	0.0297	42	c.114 others(57): Show c.1147-97_1147-56dupAAGGTGGCACTTCCTTCCTGCAAGGTGGCA CTTCCTTCCTGC	UXS1	ENSG00000115652.15	transcript	ENST00000283148.12	protein_coding	14/14			chr2	TogoVar
VAV1_chr19_6767708_6862361	6816536	G G	GACACACA others(35): Show GACACACACACATGCAGATACACACAGACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	271	0.0037	42	c.205 others(59): Show c.205-4155_205-4154insTGCAGATACACACAGACACACACACACA CACACACACACACA	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV3_chr1_107566161_107970180	107645837	A A	AGGGGGGG others(35): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0009 a0006c0016t0009	a0006c0016t0009g0002 a0006c0016t0009g0002	1	208	0.0048	42	c.177 others(61): Show c.1778-3083_1778-3082insCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCC	VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	19/26			chr1	TogoVar
VCPIP1_chr8_66623487_66672231	66638970	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0218 a0001c0002t0003g0218	1	86	0.0116	42	c.279 others(61): Show c.2798-3599_2798-3598insTATATATATATATATATATATATATA GAGAGAGAGAGAGAGA	VCPIP1	ENSG00000175073.8	transcript	ENST00000310421.5	protein_coding	2/2			chr8	TogoVar
VCPIP1_chr8_66623487_66672231	66638970	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA20129.hp2 HG02615.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0019 a0001c0002t0003 a0001c0002t0019	a0001c0002t0003g0222 a0001c0002t0019g0210 a0001c0002t0003g0222 a0001c0002t0019g0210	2	87	0.0230	42	c.279 others(61): Show c.2798-3599_2798-3598insTATATATATATATATATATATATAGA GAGAGAGAGAGAGAGA	VCPIP1	ENSG00000175073.8	transcript	ENST00000310421.5	protein_coding	2/2			chr8	TogoVar
VCX3B_chrX_8459830_8471510	8467034	G G	GGGGAGGG others(35): Show GGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0005 a0003c0003t0001g0005	1	211	0.0047	42	c.65 others(51): Show c.651_*652insGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		525		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467125	G G	GGGGAGGG others(35): Show GGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0004 a0003c0003t0006g0004	1	201	0.0050	42	c.74 others(51): Show c.742_*743insGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		616		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467154	G G	GGGGAGGG others(35): Show GGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA19068.hp1 NA18946.hp1 NA19068.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0004 a0003c0003 a0005c0004	a0003c0003t0001 a0005c0004t0001 a0003c0003t0001 a0005c0004t0001	a0003c0003t0001g0005 a0005c0004t0001g0005 a0003c0003t0001g0005 a0005c0004t0001g0005	2	214	0.0093	42	c.77 others(51): Show c.771_*772insGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		645		chrX	TogoVar
VCX_chrX_7838171_7849143	7844526	A A	AGGGAGGG others(35): Show AGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01433.hp1 others(10): Show HG01081.hp2 HG01099.hp1 HG01433.hp1 NA18949.hp1 NA18965.hp1 NA18983.hp1 NA18991.hp2 NA18998.hp1 NA19004.hp1 NA19057.hp2 NA19080.hp2 NA19081.hp1 NA20805.hp1	a0005 a0006 a0025 a0005 a0006 a0025	a0005c0005 a0006c0007 a0025c0026 a0005c0005 a0006c0007 a0025c0026	a0005c0005t0005 a0005c0005t0007 a0006c0007t0005 others(1): Show a0005c0005t0005 a0005c0005t0007 a0006c0007t0005 a0025c0026t0005	a0005c0005t0005g0003 a0005c0005t0005g0004 a0005c0005t0005g0009 others(3): Show a0005c0005t0005g0003 a0005c0005t0005g0004 a0005c0005t0005g0009 a0005c0005t0007g0003 a0006c0007t0005g0002 a0025c0026t0005g0003	13	323	0.0402	42	c.51 others(51): Show c.510_*511insGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGG AGGGAG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		384		chrX	TogoVar
VEPH1_chr3_157254742_157508416	157304038	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0251 a0001c0001t0001g0034 a0001c0001t0001g0251	2	120	0.0167	42	c.201 others(61): Show c.2010+9582_2010+9583insGTGTGTGTGTGTGTATATATATATAT ATATATATATATATAT	VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	11/13			chr3	TogoVar
VEPH1_chr3_157254742_157508416	157304038	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	119	0.0084	42	c.201 others(61): Show c.2010+9582_2010+9583insGTGTGTGTATATATATATATATATAT ATATATATATATATAT	VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	11/13			chr3	TogoVar
VEPH1_chr3_157254742_157508416	157304038	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18953.hp1 HG00733.hp2 NA18953.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0008 a0002c0003t0002g0178 a0002c0003t0002g0008 a0002c0003t0002g0178	2	120	0.0167	42	c.201 others(61): Show c.2010+9582_2010+9583insGTGTGTATATATATATATATATATAT ATATATATATATATAT	VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	11/13			chr3	TogoVar
VEZF1_chr17_57966552_57993254	57970178	A A	ATTTTTTT others(35): Show ATTTTTTTTTGTTTTTTTTTTTTTGTTTTTTTTTTTTTTGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01243.hp1 HG02818.hp1 others(1): Show HG00323.hp1 HG01243.hp1 HG02818.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0031 a0001c0002t0002g0061 a0001c0002t0002g0003 a0001c0002t0002g0031 a0001c0002t0002g0061	4	233	0.0172	42	c.42 others(53): Show c.4294_*4295insAAACAAAAAAAAAAAAAACAAAAAAAAAAAAACA AAAAAAAA	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		1373		chr17	TogoVar
VKORC1L1_chr7_65868074_65964558	65872968	C C	CTCCCCAC others(35): Show CTCCCCACCCCTGCCCCGCCCATCCCCACCCCTGCCCCGCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0250 a0001c0001t0011g0250	1	346	0.0029	42	c.-40 others(51): Show c.-404_-403insTCCCCACCCCTGCCCCGCCCATCCCCACCCCTGCCC CGCCCA	VKORC1L1	ENSG00000196715.7	transcript	ENST00000360768.5	protein_coding		105		chr7	TogoVar
VN1R2_chr19_53253292_53264602	53254971	G G	GGGGATGG others(35): Show GGGGATGGGCGGGGACAATGGCGGGATGGGCGGGGACAATGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA21309.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	2	356	0.0056	42	c.-34 others(53): Show c.-3405_-3404insGGGATGGGCGGGGACAATGGCGGGATGGGCGGGG ACAATGGC	VN1R2	ENSG00000196131.6	transcript	ENST00000341702.3	protein_coding		3320		chr19	TogoVar
VN1R4_chr19_53261676_53272723	53270701	G G	GGGGAGAG others(35): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	74	0.0135	42	c.-30 others(53): Show c.-3037_-3036insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCC	VN1R4	ENSG00000228567.3	transcript	ENST00000311170.5	protein_coding		2979		chr19	TogoVar
VNN2_chr6_132738870_132762904	132750497	G G	GTGTATGT others(35): Show GTGTATGTATATATGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG01257.hp1 others(18): Show HG00280.hp1 HG00733.hp1 HG01257.hp1 HG01943.hp1 HG02145.hp1 HG02280.hp1 HG02895.hp1 HG02896.hp1 HG02976.hp1 HG03017.hp2 HG03486.hp2 HG03490.hp2 HG03654.hp2 HG03688.hp2 HG06807.hp2 NA18612.hp2 NA18975.hp1 NA18987.hp1 NA19068.hp2 NA19072.hp2 NA19086.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0002 a0001c0018 a0002c0009 others(2): Show a0001c0002 a0001c0018 a0002c0009 a0005c0017 a0008c0010	a0001c0002t0001 a0001c0018t0001 a0002c0009t0001 others(2): Show a0001c0002t0001 a0001c0018t0001 a0002c0009t0001 a0005c0017t0001 a0008c0010t0001	a0001c0002t0001g0006 a0001c0002t0001g0054 a0001c0002t0001g0056 others(8): Show a0001c0002t0001g0006 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0074 a0001c0002t0001g0125 a0001c0002t0001g0131 a0001c0002t0001g0142 a0001c0018t0001g0170 a0002c0009t0001g0067 a0005c0017t0001g0127 a0008c0010t0001g0068	21	214	0.0981	42	c.120 others(59): Show c.1201-633_1201-632insTATATATATATATATATATATATATACA CATATATACATACA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding	5/6			chr6	TogoVar
VNN2_chr6_132738870_132762904	132750497	G G	GTGTATGT others(35): Show GTGTATGTATATATGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01358.hp1 HG01243.hp2 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0155 a0001c0002t0001g0139 a0001c0002t0001g0155	2	195	0.0103	42	c.120 others(59): Show c.1201-633_1201-632insTATATATATATATATATATATATACACA CATATATACATACA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding	5/6			chr6	TogoVar
VNN2_chr6_132738870_132762904	132758000	T T	TTTCTTCT others(35): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG03098.hp2 NA18906.hp1 HG02451.hp1 HG03098.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0038 a0002c0004t0001g0035 a0002c0004t0001g0063 a0001c0001t0002g0038 a0002c0004t0001g0035 a0002c0004t0001g0063	3	279	0.0108	42	c.-11 others(51): Show c.-118_-117insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding		97		chr6	TogoVar
VPS13A_chr9_77172534_77426537	77207237	A A	ATATATAT others(35): Show ATATATATGTATATATATATATATGTATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0014 a0014	a0014c0034 a0014c0034	a0014c0034t0001 a0014c0034t0001	a0014c0034t0001g0325 a0014c0034t0001g0325	1	271	0.0037	42	c.385 others(59): Show c.385+1165_385+1166insGTATATATATATATATGTATATATATAT ATATACGTATATAT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	5/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77207237	A A	ATATATGT others(35): Show ATATATGTATATATATATATATATGTATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02165.hp2 NA18940.hp1 others(3): Show HG01123.hp2 HG02165.hp2 NA18940.hp1 NA18970.hp2 NA18977.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0044 a0001c0002 a0001c0044	a0001c0002t0001 a0001c0044t0001 a0001c0002t0001 a0001c0044t0001	a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0303 others(3): Show a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0303 a0001c0002t0001g0310 a0001c0002t0001g0315 a0001c0044t0001g0319	6	276	0.0217	42	c.385 others(59): Show c.385+1163_385+1164insGTATATATATATATATATGTATATATAT ATATATACGTATAT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	5/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77207237	A A	ATATATGT others(35): Show ATATATGTATATATATATATATGTATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02602.hp2 NA18963.hp2 others(3): Show HG02027.hp2 HG02602.hp2 NA18963.hp2 NA18984.hp2 NA19012.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0014 a0001c0001t0003 a0001c0002t0001 a0001c0002t0014	a0001c0001t0003g0308 a0001c0002t0001g0277 a0001c0002t0001g0300 others(3): Show a0001c0001t0003g0308 a0001c0002t0001g0277 a0001c0002t0001g0300 a0001c0002t0001g0318 a0001c0002t0001g0331 a0001c0002t0014g0262	6	276	0.0217	42	c.385 others(59): Show c.385+1163_385+1164insGTATATATATATATATGTATATATATAT ATATATACGTATAT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	5/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13A_chr9_77172534_77426537	77207239	A A	ATATGTAT others(35): Show ATATGTATATATATATATATATGTATATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0253 a0001c0002t0001g0253	1	344	0.0029	42	c.385 others(59): Show c.385+1163_385+1164insGTATATATATATATATATGTATATATAT ATATATATACGTAT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	5/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13D_chr1_12225030_12517047	12396029	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02976.hp1 HG01109.hp1 HG02976.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0150 a0003c0007t0007g0152 a0003c0007t0007g0150 a0003c0007t0007g0152	2	75	0.0267	42	c.116 others(63): Show c.11635-4152_11635-4151insTATATATATATATATATATATATA TATATATATATATATATT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69			chr1	TogoVar
VPS13D_chr1_12225030_12517047	12482739	C C	CTAGTATA others(35): Show CTAGTATACATATATGTATACATAGTATACATATATGTATACA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG02071.hp2 others(17): Show HG00408.hp2 HG00438.hp2 HG02071.hp2 HG02165.hp1 HG02523.hp1 HG02895.hp1 HG02970.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp1 NA18943.hp2 NA18959.hp2 NA18974.hp1 NA19000.hp2 NA19001.hp1 NA19012.hp2 NA19057.hp1 NA19063.hp1 NA19068.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 others(5): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0027 a0001c0011t0011	a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0064 others(17): Show a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0064 a0001c0001t0009g0027 a0001c0001t0016g0032 a0001c0002t0002g0024 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0035 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0045 a0001c0002t0008g0044 a0001c0002t0009g0014 a0001c0002t0009g0025 a0001c0002t0009g0026 a0001c0002t0009g0030 a0001c0002t0027g0031 a0001c0011t0011g0016	20	128	0.1563	42	c.126 others(65): Show c.12663-14746_12663-14705dupGTATACATAGTATACATATATG TATACATAGTATACATATAT	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	67/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS16_chr20_2835745_2871732	2842890	A A	ATAGATAG others(35): Show ATAGATAGATAGATGTATCGATAGATAGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp1 HG03225.hp1 HG02622.hp2 HG02895.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0014 a0001c0004t0001g0014	3	395	0.0076	42	c.53+ others(57): Show c.53+2076_53+2077insGTATCGATAGATAGATAGATGTATCTATCT AGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS53_chr17_503668_719839	649003	T T	TGGAACAG others(35): Show TGGAACAGGCAATGAAGATCTTACACTAGAGGACAGAGGAATG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02145.hp1 HG03942.hp2 others(3): Show HG01516.hp1 HG02145.hp1 HG03942.hp2 NA18944.hp2 NA18973.hp2 NA18990.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0008 a0001c0002 a0004c0008	a0001c0002t0018 a0001c0002t0083 a0001c0002t0097 others(3): Show a0001c0002t0018 a0001c0002t0083 a0001c0002t0097 a0001c0002t0141 a0004c0008t0035 a0004c0008t0100	a0001c0002t0018g0225 a0001c0002t0083g0221 a0001c0002t0097g0223 others(3): Show a0001c0002t0018g0225 a0001c0002t0083g0221 a0001c0002t0097g0223 a0001c0002t0141g0202 a0004c0008t0035g0229 a0004c0008t0100g0227	6	7	0.8571	42	c.608 others(59): Show c.608+4287_608+4288insCATTCCTCTGTCCTCTAGTGTAAGATCT TCATTGCCTGTTCC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
VPS54_chr2_63887150_64024428	64014637	C C	CCTGCCTT others(35): Show CCTGCCTTTGACAACCTCTATATTCCTTCCTAATTTGATTCTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00738.hp2 others(37): Show HG00280.hp2 HG00642.hp2 HG00738.hp2 HG01099.hp1 HG01123.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01993.hp1 HG02004.hp1 HG02071.hp1 HG02135.hp1 HG02145.hp2 HG02293.hp1 HG02683.hp1 HG02735.hp1 HG03490.hp2 HG03492.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18949.hp2 NA18954.hp1 NA18963.hp1 NA18965.hp1 NA18984.hp1 NA18985.hp2 NA18994.hp1 NA19001.hp1 NA19009.hp2 NA19066.hp2 NA19068.hp1 NA19081.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0005c0009t0001 a0001c0001t0001 a0005c0009t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 others(37): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0186 a0001c0001t0001g0265 a0005c0009t0001g0068	40	302	0.1325	42	c.-21 others(59): Show c.-21+4259_-21+4300dupAAGAATCAAATTAGGAAGGAATATAGAG GTTGTCAAAGGCAG	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	1/22			chr2	TogoVar
VRK1_chr14_96792382_96886609	96808002	C C	CCTCTCTC others(35): Show CCTCTCTCCGTCTCTCTCCCTCTCTCCCTCTCTCCGTCTCTCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02896.hp2 HG02897.hp1 others(2): Show HG02145.hp2 HG02896.hp2 HG02897.hp1 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 others(2): Show a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246	5	175	0.0286	42	c.-6+ others(59): Show c.-6+10562_-6+10563insCGTCTCTCTCCCTCTCTCCCTCTCTCCG TCTCTCTCTCTCTC	VRK1	ENSG00000100749.9	transcript	ENST00000216639.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
VRK1_chr14_96792382_96886609	96808002	C C	CGTCTCTC others(35): Show CGTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCGTCTCTCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA20129.hp1 HG02965.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0135 a0001c0002t0001g0136	2	172	0.0116	42	c.-6+ others(59): Show c.-6+10555_-6+10556insGTCTCTCTCCCTCTCTCCCTCTCTCCCT CTCTCCGTCTCTCT	VRK1	ENSG00000100749.9	transcript	ENST00000216639.8	protein_coding	1/12			chr14	TogoVar
VRK1_chr14_96792382_96886609	96808005	C C	CTCTCCGT others(35): Show CTCTCCGTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02451.hp1 others(6): Show HG02055.hp2 HG02109.hp1 HG02451.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03471.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0110 a0001c0002t0001g0111 others(5): Show a0001c0002t0001g0019 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117	9	276	0.0326	42	c.-6+ others(59): Show c.-6+10562_-6+10563insCGTCTCTCTCCCTCTCTCCCTCTCTCCC TCTCTCTCTGTCTC	VRK1	ENSG00000100749.9	transcript	ENST00000216639.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
VSTM2A_chr7_54537375_54576067	54545721	A A	AGGGGAAA others(35): Show AGGGGAAAAAGGGAGAGAGGGAAGGGAAAGAGAGAGAGGGAAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	380	0.0026	42	c.246 others(57): Show c.246+966_246+967insAGAGGGAAGGGGGAAAAAGGGAGAGAGGGA AGGGAAAGAGAG	VSTM2A	ENSG00000170419.11	transcript	ENST00000402613.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
VSX2_chr14_74234449_74267738	74244899	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGAAAGAGAGAGAGAAAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0217 a0001c0002t0018g0217	1	419	0.0024	42	c.456 others(57): Show c.456-251_456-250insAAAGAGAGAGAGAAAGAGAGAGAGAAAGTG TGTGTGTGTGTG	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr14	TogoVar

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