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
VPS41_chr7_38717974_38914191	38723723	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01934.hp1 HG02559.hp1 NA19076.hp2 HG01934.hp1 HG02559.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0025 a0001c0011t0025 a0001c0001t0025 a0001c0011t0025	a0001c0001t0025g0228 a0001c0001t0025g0253 a0001c0011t0025g0092 a0001c0001t0025g0228 a0001c0001t0025g0253 a0001c0011t0025g0092	3	74	0.0405	19	c.25 others(30): Show c.2504_*2522dupTTTTTTTTTTTTTTTTTTT	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	29/29	2522		chr7	TogoVar
VPS4A_chr16_69306350_69331939	69324706	A A	ACCCAGAC others(12): Show ACCCAGACCTCCAGACAGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0081 a0001c0002t0014g0090 a0001c0002t0014g0081 a0001c0002t0014g0090	2	364	0.0055	19	c.39 others(28): Show c.398_*416dupCCCAGACCTCCAGACAGCC	VPS4A	ENSG00000132612.16	transcript	ENST00000254950.13	protein_coding	11/11	417	INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS53_chr17_503668_719839	662795	G G	GAAGAGAA others(12): Show GAAGAGAAAGAAAGAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0090 a0002c0003t0090	a0002c0003t0090g0173 a0002c0003t0090g0173	1	221	0.0045	19	c.286 others(34): Show c.286-901_286-900insTTTTTTCTTTCTTTCTCTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS53_chr17_503668_719839	662799	A A	AAGAAAGA others(12): Show AAGAAAGAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02040.hp1 HG03491.hp2 HG00621.hp1 HG02040.hp1 HG03491.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0019 a0002c0003t0082 a0002c0003t0009 a0002c0003t0019 a0002c0003t0082	a0002c0003t0009g0186 a0002c0003t0019g0214 a0002c0003t0082g0184 a0002c0003t0009g0186 a0002c0003t0019g0214 a0002c0003t0082g0184	3	197	0.0152	19	c.286 others(34): Show c.286-905_286-904insCTTTCTTTTTTTTCTTTCT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS54_chr2_63887150_64024428	63967718	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01169.hp1 others(6): Show HG00323.hp2 HG00741.hp1 HG01169.hp1 HG01358.hp2 HG01516.hp1 HG01517.hp1 HG03491.hp2 NA18943.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0099 others(6): Show a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0271 a0001c0001t0008g0002	9	118	0.0763	19	c.492 others(36): Show c.492+1238_492+1239insTTTTTTTTTTTTTTTTTTT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	5/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	63970238	T T	TATATAGA others(12): Show TATATAGATATATATAGATA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0182 a0001c0003t0001g0182	1	285	0.0035	19	c.458 others(36): Show c.458-1248_458-1247insTATCTATATATATCTATAT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	4/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	64019505	T T	TGGCGCAG others(12): Show TGGCGCAGGCCGGCGTGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0005 a0003c0005t0001g0005	1	302	0.0033	19	c.-58 others(28): Show c.-589_-588insGGGCACGCCGGCCTGCGCC	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding		78		chr2	TogoVar
VPS54_chr2_63887150_64024428	64020150	C C	CACACACA others(12): Show CACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0281 a0001c0003t0003g0281	1	302	0.0033	19	c.-12 others(30): Show c.-1234_-1233insTGTGTGTGTGTGTGTGTGT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding		723		chr2	TogoVar
VPS8_chr3_184807166_185057604	184842186	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp1 HG01934.hp1 others(4): Show HG00639.hp1 HG01175.hp1 HG01934.hp1 HG01981.hp1 HG02895.hp1 NA18953.hp1 NA18954.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0003 a0002c0002 a0004c0003	a0002c0002t0001 a0004c0003t0001 a0002c0002t0001 a0004c0003t0001	a0002c0002t0001g0092 a0002c0002t0001g0173 a0002c0002t0001g0223 others(4): Show a0002c0002t0001g0092 a0002c0002t0001g0173 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0004c0003t0001g0075 a0004c0003t0001g0077	7	106	0.0660	19	c.536 others(36): Show c.536-1049_536-1031dupAAAAAAAAAAAAAAAAAAA	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(12): Show AAAAAAAAAAACTCACCAAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0002 a0013c0020t0002	a0013c0020t0002g0125 a0013c0020t0002g0125	1	2	0.5000	19	c.358 others(38): Show c.3585+1100_3585+1101insAAAAAAAAAACTCACCAAG	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	42/47			chr3	TogoVar
VPS9D1_chr16_89702134_89725898	89711618	T T	TGGGACCC others(12): Show TGGGACCCTCCCTCCTCGCA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	427	0.0023	19	c.748 others(34): Show c.748-225_748-207dupTGCGAGGAGGGAGGGTCCC	VPS9D1	ENSG00000075399.14	transcript	ENST00000389386.8	protein_coding	8/14			chr16	TogoVar
VRK2_chr2_58041806_58164871	58120184	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01993.hp2 HG00438.hp1 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0291 a0001c0004t0001g0132 a0001c0001t0001g0291 a0001c0004t0001g0132	2	126	0.0159	19	c.544 others(36): Show c.544-2911_544-2893dupTTTTTTTTTTTTTTTTTTT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58151731	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03540.hp1 NA18961.hp1 others(1): Show HG02040.hp1 HG03540.hp1 NA18961.hp1 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0097 a0001c0001t0001g0178 a0001c0001t0001g0308 others(1): Show a0001c0001t0001g0097 a0001c0001t0001g0178 a0001c0001t0001g0308 a0002c0002t0002g0230	4	29	0.1379	19	c.118 others(38): Show c.1182+5275_1182+5293dupTTTTTTTTTTTTTTTTTTT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRTN_chr14_74343471_74365008	74344246	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00741.hp1 others(62): Show HG00438.hp1 HG00558.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02970.hp1 HG03209.hp2 HG03654.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18939.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18957.hp1 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19012.hp2 NA19056.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19074.hp1 NA19084.hp2 NA19085.hp1 NA19089.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0012 a0001c0017 a0002c0007 a0007c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0003t0001 a0001c0005t0001 a0001c0008t0001 a0001c0012t0001 a0001c0017t0001 a0002c0007t0001 a0007c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0063 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0002g0001 a0001c0001t0002g0043 a0001c0001t0003g0009 a0001c0001t0012g0004 a0001c0003t0001g0006 a0001c0003t0001g0026 a0001c0005t0001g0037 a0001c0008t0001g0030 a0001c0008t0001g0070 a0001c0012t0001g0009 a0001c0017t0001g0004 a0002c0007t0001g0039 a0007c0020t0001g0052	65	68	0.9559	19	c.-44 others(30): Show c.-4408_-4407insAAAAAAAAAAAAAAAAAAA	VRTN	ENSG00000133980.5	transcript	ENST00000256362.5	protein_coding		4224		chr14	TogoVar
VSNL1_chr2_17535696_17662018	17642309	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02155.hp2 HG02486.hp2 others(7): Show HG02129.hp2 HG02155.hp2 HG02486.hp2 HG02559.hp1 HG02735.hp2 HG02809.hp2 HG03669.hp2 NA18612.hp2 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0023	a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0122 others(7): Show a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0122 a0001c0001t0004g0173 a0001c0001t0005g0157 a0001c0001t0008g0129 a0001c0001t0008g0130 a0001c0001t0012g0142 a0001c0001t0012g0182 a0001c0001t0023g0132	10	80	0.1250	19	c.163 others(36): Show c.163-7084_163-7083insTTTTTTTTTTTTTTTTTTT	VSNL1	ENSG00000163032.12	transcript	ENST00000295156.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
VSTM2A_chr7_54537375_54576067	54546817	G G	GCCCCTGG others(12): Show GCCCCTGGTCGCTCCCCTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG00738.hp1 others(30): Show HG00140.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01123.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01978.hp1 HG01981.hp2 HG02148.hp1 HG02602.hp1 HG02647.hp2 HG02723.hp1 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp1 HG03710.hp2 NA18522.hp1 NA19030.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0027	a0001c0001t0001g0177 a0001c0001t0002g0010 a0001c0001t0002g0014 others(16): Show a0001c0001t0001g0177 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0008g0197 a0001c0001t0014g0022 a0001c0001t0016g0201 a0001c0001t0027g0010	33	380	0.0868	19	c.247 others(34): Show c.247-125_247-107dupTGGTCGCTCCCCTGTCCCC	VSTM2A	ENSG00000170419.11	transcript	ENST00000402613.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
VTA1_chr6_142142263_142229685	142156871	T T	TATCTATT others(12): Show TATCTATTGATAGATGGTAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0250 a0001c0001t0005g0250	1	332	0.0030	19	c.113 others(36): Show c.113-9356_113-9355insTCTATTGATAGATGGTAAA	VTA1	ENSG00000009844.16	transcript	ENST00000367630.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
VTA1_chr6_142142263_142229685	142181094	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	53	0.0189	19	c.412 others(36): Show c.412-8331_412-8330insAAATATATATATATATATA	VTA1	ENSG00000009844.16	transcript	ENST00000367630.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
VTA1_chr6_142142263_142229685	142181094	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	53	0.0189	19	c.412 others(36): Show c.412-8332_412-8331insTATATATATATATATATAT	VTA1	ENSG00000009844.16	transcript	ENST00000367630.9	protein_coding	4/7			chr6	TogoVar
VTI1A_chr10_112442215_112823744	112455169	T T	TCCTCCCC others(12): Show TCCTCCCCTCCCCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 NA19240.hp1 HG02622.hp2 HG02630.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0133 a0001c0001t0002g0020 a0001c0001t0006g0132 a0001c0001t0001g0133 a0001c0001t0002g0020 a0001c0001t0006g0132	3	72	0.0417	19	c.95- others(34): Show c.95-5343_95-5342insCTCCTCCCCTCCCCTCCCC	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112611737	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	30	0.0333	19	c.428 others(38): Show c.428-56477_428-56459dupTTTTTTTTTTTTTTTTTTT	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112767944	G G	GCCGGACA others(12): Show GCCGGACACGTATTACTTCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00597.hp2 others(35): Show HG00438.hp2 HG00558.hp1 HG00597.hp2 HG01884.hp1 HG01891.hp1 HG02040.hp2 HG02074.hp2 HG02132.hp2 HG02155.hp1 HG02451.hp2 HG02622.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18954.hp1 NA18962.hp1 NA18983.hp2 NA19002.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0034 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0111 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0165 a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0040 a0001c0001t0002g0094 a0001c0001t0002g0100 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0167 a0001c0001t0003g0002 a0001c0001t0003g0022 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0004g0006 a0001c0001t0004g0018 a0001c0001t0004g0112 a0001c0001t0006g0004 a0001c0001t0006g0132 a0001c0001t0007g0124 a0001c0001t0007g0135 a0001c0001t0017g0098	38	166	0.2289	19	c.561 others(38): Show c.561-47343_561-47325dupGGACACGTATTACTTCCCC	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114246505	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01123.hp1 HG00280.hp1 HG01123.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0010 a0008c0009t0010	a0008c0009t0010g0055 a0008c0009t0010g0056 a0008c0009t0010g0055 a0008c0009t0010g0056	2	166	0.0120	19	c.-10 others(36): Show c.-10-2197_-10-2179dupAAAAAAAAAAAAAAAAAAA	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA3B_chr2_98082167_98318299	98278550	A A	AGCTAGAA others(12): Show AGCTAGAAAGGGGATGGAGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03041.hp1 HG03041.hp2 others(2): Show HG01261.hp2 HG03041.hp1 HG03041.hp2 HG03486.hp1 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0021 others(1): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0021 a0002c0002t0024	a0002c0002t0003g0024 a0002c0002t0003g0027 a0002c0002t0004g0022 others(2): Show a0002c0002t0003g0024 a0002c0002t0003g0027 a0002c0002t0004g0022 a0002c0002t0021g0006 a0002c0002t0024g0008	5	238	0.0210	19	c.304 others(38): Show c.3045+7669_3045+7687dupCTAGAAAGGGGATGGAGTG	VWA3B	ENSG00000168658.20	transcript	ENST00000477737.6	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWA5B1_chr1_20285875_20364518	20299461	T T	TAGTGCGA others(12): Show TAGTGCGATCTTAGCTCACC	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0279 a0002c0002t0001g0279	1	326	0.0031	19	c.-27 others(36): Show c.-27+8374_-27+8392dupAGTGCGATCTTAGCTCACC	VWA5B1	ENSG00000158816.16	transcript	ENST00000289815.13	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
VWA8_chr13_41561835_41966109	41841820	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	173	0.0058	19	c.142 others(38): Show c.1426-8290_1426-8289insATATTTTTTTTTTTTTTTT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	12/44			chr13	TogoVar
VWC2L_chr2_214406054_214583976	214421885	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	111	0.0090	19	c.390 others(36): Show c.390+7308_390+7326dupTTTTTTTTTTTTTTTTTTT	VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWC2L_chr2_214406054_214583976	214563546	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	3	0.3333	19	c.521 others(38): Show c.521-12109_521-12091dupAAAAAAAAAAAAAAAAAAA	VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWC2_chr7_49768638_49926950	49877481	A A	AAAAAAAT others(12): Show AAAAAAATATACATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	88	0.0114	19	c.827 others(38): Show c.827-34552_827-34551insAAAAATATACATATATATA	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VWC2_chr7_49768638_49926950	49877481	A A	AAAAATAT others(12): Show AAAAATATACATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0017 a0003c0003t0017	a0003c0003t0017g0242 a0003c0003t0017g0242	1	88	0.0114	19	c.827 others(38): Show c.827-34552_827-34551insAAATATACATATATATATA	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VXN_chr8_66488566_66523524	66489829	T T	TTTTATTT others(12): Show TTTTATTTTATTTTATTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02976.hp1 HG01070.hp1 HG01071.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0223 a0001c0001t0003g0057 a0001c0001t0003g0060 a0001c0001t0001g0223 a0001c0001t0003g0057 a0001c0001t0003g0060	3	330	0.0091	19	c.-38 others(30): Show c.-3820_-3819insTTTATTTTATTTTATTTTA	VXN	ENSG00000169085.14	transcript	ENST00000305454.8	protein_coding		3736		chr8	TogoVar
VXN_chr8_66488566_66523524	66489834	T T	TTTTATTT others(12): Show TTTTATTTTATTTTATTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG03490.hp1 HG01258.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0224 a0001c0001t0001g0225	2	328	0.0061	19	c.-38 others(30): Show c.-3815_-3814insTTTATTTTATTTTATTTTA	VXN	ENSG00000169085.14	transcript	ENST00000305454.8	protein_coding		3731		chr8	TogoVar
WAC_chr10_28528118_28628112	28626049	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01496.hp2 HG00280.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0011 a0001c0001t0002g0012	2	24	0.0833	19	c.64 others(30): Show c.6443_*6444insTTTTTTTTTTTTTTTTTTT	WAC	ENSG00000095787.26	transcript	ENST00000354911.9	protein_coding		2938		chr10	TogoVar
WAPL_chr10_86430256_86526792	86504037	G G	GGGGGCAC others(12): Show GGGGGCACATGCCAGTCGTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	408	0.0025	19	c.500 others(36): Show c.500-3295_500-3294insGACGACTGGCATGTGCCCC	WAPL	ENSG00000062650.20	transcript	ENST00000298767.10	protein_coding	2/18			chr10	TogoVar
WAPL_chr10_86430256_86526792	86505300	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	155	0.0065	19	c.500 others(36): Show c.500-4576_500-4558dupAAAAAAAAAAAAAAAAAAA	WAPL	ENSG00000062650.20	transcript	ENST00000298767.10	protein_coding	2/18			chr10	TogoVar
WARS1_chr14_100328790_100380347	100371447	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	116	0.0086	19	c.-73 others(36): Show c.-73-2208_-73-2190dupTTTTTTTTTTTTTTTTTTT	WARS1	ENSG00000140105.18	transcript	ENST00000392882.7	protein_coding	1/10			chr14	TogoVar
WASF2_chr1_27399230_27495167	27454187	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	68	0.0147	19	c.-43 others(38): Show c.-43-25255_-43-25254insAAAAAAATATATATATATA	WASF2	ENSG00000158195.11	transcript	ENST00000618852.5	protein_coding	1/8			chr1	TogoVar
WASF3_chr13_26552683_26693948	26554092	C C	CTTCTTCT others(12): Show CTTCTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	144	0.0069	19	c.-38 others(30): Show c.-3836_-3835insTTCTTCTTTCTTTCTTTCT	WASF3	ENSG00000132970.14	transcript	ENST00000335327.6	protein_coding		3590		chr13	TogoVar
WASF3_chr13_26552683_26693948	26578993	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp2 HG02818.hp2 HG00408.hp1 HG00642.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0055 a0001c0001t0002g0095 a0001c0001t0007g0086 a0001c0001t0002g0055 a0001c0001t0002g0095 a0001c0001t0007g0086	3	13	0.2308	19	c.-10 others(40): Show c.-109+21179_-109+21197dupTTTTTTTTTTTTTTTTTTT	WASF3	ENSG00000132970.14	transcript	ENST00000335327.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
WASHC2A_chr10_50062954_50138509	50090515	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0031 a0031	a0031c0022 a0031c0022	a0031c0022t0001 a0031c0022t0001	a0031c0022t0001g0061 a0031c0022t0001g0061	1	104	0.0096	19	c.733 others(34): Show c.733-260_733-259insAAAAAAAAATATATATATA	WASHC2A	ENSG00000099290.17	transcript	ENST00000282633.10	protein_coding	8/30		INFO_REALIGN_3_PRIME	chr10	TogoVar
WASHC2C_chr10_45722266_45797964	45749836	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0342 a0004c0004t0002g0342	1	119	0.0084	19	c.733 others(34): Show c.733-259_733-258insAAAAATATATATATATATA	WASHC2C	ENSG00000172661.20	transcript	ENST00000623400.4	protein_coding	8/30		INFO_REALIGN_3_PRIME	chr10	TogoVar
WASHC2C_chr10_45722266_45797964	45749836	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0346 a0004c0004t0002g0346	1	119	0.0084	19	c.733 others(34): Show c.733-259_733-258insAAATATATATATATATATA	WASHC2C	ENSG00000172661.20	transcript	ENST00000623400.4	protein_coding	8/30		INFO_REALIGN_3_PRIME	chr10	TogoVar
WASHC5_chr8_125019260_125096792	125079142	A A	ATATATAT others(12): Show ATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02896.hp1 HG02818.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0242 a0001c0002t0001g0243	2	325	0.0062	19	c.519 others(34): Show c.519-213_519-212insGTATATATATATATATATA	WASHC5	ENSG00000164961.16	transcript	ENST00000318410.12	protein_coding	5/28			chr8	TogoVar
WBP1L_chr10_102738948_102821262	102768364	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0117 a0002c0002t0001g0117	1	357	0.0028	19	c.90+ others(36): Show c.90+24227_90+24228insTTTTTTTTTTTTTTTTTTT	WBP1L	ENSG00000166272.18	transcript	ENST00000448841.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
WBP1L_chr10_102738948_102821262	102768371	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0119 a0002c0002t0001g0119	1	327	0.0031	19	c.90+ others(36): Show c.90+24235_90+24253dupTTTTTTTTTTTTTTTTTTT	WBP1L	ENSG00000166272.18	transcript	ENST00000448841.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDFY1_chr2_223870348_223950335	223891382	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18522.hp1 HG03209.hp2 NA18522.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0018 a0005c0004t0018 a0001c0001t0018 a0005c0004t0018	a0001c0001t0018g0264 a0005c0004t0018g0008 a0001c0001t0018g0264 a0005c0004t0018g0008	2	69	0.0290	19	c.831 others(36): Show c.831+2851_831+2852insTTTTTTTTTTTTTTTTTTT	WDFY1	ENSG00000085449.15	transcript	ENST00000233055.9	protein_coding	8/11			chr2	TogoVar
WDFY1_chr2_223870348_223950335	223896155	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02165.hp1 HG03195.hp1 others(2): Show HG00544.hp1 HG02165.hp1 HG03195.hp1 HG03195.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0013 a0001c0001t0002g0050 a0001c0001t0002g0083 others(2): Show a0001c0001t0002g0013 a0001c0001t0002g0050 a0001c0001t0002g0083 a0001c0001t0002g0366 a0001c0002t0003g0151	5	51	0.0980	19	c.599 others(34): Show c.599-544_599-526dupTTTTTTTTTTTTTTTTTTT	WDFY1	ENSG00000085449.15	transcript	ENST00000233055.9	protein_coding	6/11			chr2	TogoVar
WDFY2_chr13_51579462_51772709	51768602	C C	CTCAGCAA others(12): Show CTCAGCAAGGGTTTCTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0247 a0001c0001t0036g0247	1	276	0.0036	19	c.88 others(30): Show c.8833_*8834insTCAGCAAGGGTTTCTCTTT	WDFY2	ENSG00000139668.9	transcript	ENST00000298125.7	protein_coding		894		chr13	TogoVar
WDFY4_chr10_48679873_48987956	48784530	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02109.hp1 HG02257.hp2	a0024 a0053 a0024 a0053	a0024c0016 a0053c0052 a0024c0016 a0053c0052	a0024c0016t0002 a0053c0052t0002 a0024c0016t0002 a0053c0052t0002	a0024c0016t0002g0116 a0053c0052t0002g0115 a0024c0016t0002g0116 a0053c0052t0002g0115	2	45	0.0444	19	c.357 others(38): Show c.3577-2097_3577-2079dupTTTTTTTTTTTTTTTTTTT	WDFY4	ENSG00000128815.20	transcript	ENST00000325239.12	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDFY4_chr10_48679873_48987956	48974527	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02886.hp2 HG01243.hp1 HG02886.hp2	a0025 a0045 a0025 a0045	a0025c0029 a0045c0082 a0025c0029 a0045c0082	a0025c0029t0001 a0045c0082t0002 a0025c0029t0001 a0045c0082t0002	a0025c0029t0001g0199 a0045c0082t0002g0153 a0025c0029t0001g0199 a0045c0082t0002g0153	2	180	0.0111	19	c.892 others(36): Show c.8929-333_8929-332insAAAAAAAAAAAAAAAACAA	WDFY4	ENSG00000128815.20	transcript	ENST00000325239.12	protein_coding	57/61		INFO_REALIGN_3_PRIME	chr10	TogoVar

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