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
VPS13B_chr8_99008274_99882580	99326452	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0048 a0001c0010t0005g0048	1	34	0.0294	23	c.282 others(44): Show c.2824+51206_2824+51228dupTTTTTTTTTTTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99640049	G G	GAAGAAGA others(16): Show GAAGAAGAAGAAGAAGAAGAGAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0132 a0003c0005t0004g0132	1	70	0.0143	23	c.522 others(42): Show c.5221-1761_5221-1760insAGAAGAAGAAGAAGAAGAGAAAA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99832341	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01515.hp2 HG03195.hp1 NA18992.hp1 HG01515.hp2 HG03195.hp1 NA18992.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0007 a0002c0003t0003 a0002c0003t0007	a0002c0003t0003g0059 a0002c0003t0003g0099 a0002c0003t0007g0017 a0002c0003t0003g0059 a0002c0003t0003g0099 a0002c0003t0007g0017	3	53	0.0566	23	c.933 others(37): Show c.9331-25_9331-3dupTTTTTTTTTTTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	51/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13C_chr15_61847389_62065447	61923861	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA20300.hp2 HG02258.hp2 NA20300.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0014 a0012c0011t0028 a0012c0011t0014 a0012c0011t0028	a0012c0011t0014g0190 a0012c0011t0028g0343 a0012c0011t0014g0190 a0012c0011t0028g0343	2	101	0.0198	23	c.661 others(42): Show c.6610-1100_6610-1099insAAAAAAAAAAAAAAAAAAAAAAA	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	53/84			chr15	TogoVar
VPS16_chr20_2835745_2871732	2836440	G G	GCCCTCTA others(16): Show GCCCTCTACCCAGTTTTCCTCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18984.hp1 NA19011.hp1 others(1): Show NA18945.hp1 NA18984.hp1 NA19011.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0148 others(1): Show a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0001g0185	4	406	0.0099	23	c.-43 others(34): Show c.-4335_-4334insCCCTCTACCCAGTTTTCCTCATT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding		4304		chr20	TogoVar
VPS26A_chr10_69119178_69179412	69151282	A A	AAAAACAA others(16): Show AAAAACAAAAAACAAAAAACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02970.hp2 HG02572.hp2 HG02630.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0026 a0001c0002t0008 a0001c0002t0026	a0001c0002t0008g0033 a0001c0002t0008g0035 a0001c0002t0026g0030 a0001c0002t0008g0033 a0001c0002t0008g0035 a0001c0002t0026g0030	3	316	0.0095	23	c.154 others(40): Show c.154-4529_154-4528insAAACAAAAAACAAAAAACACACA	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26C_chr21_37218422_37272334	37255851	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0248 a0001c0001t0005g0248	1	46	0.0217	23	c.57+ others(40): Show c.57+11386_57+11387insAAAAAAAAAAAAAAAAAAAAAAA	VPS26C	ENSG00000157538.14	transcript	ENST00000309117.11	protein_coding	1/7			chr21	TogoVar
VPS33B_chr15_90993673_91027594	91026979	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02055.hp1 HG02818.hp1 others(5): Show HG01496.hp1 HG02055.hp1 HG02818.hp1 HG02896.hp2 HG03540.hp1 NA18955.hp1 NA18981.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0030 a0001c0001t0001g0053 a0001c0001t0001g0082 others(5): Show a0001c0001t0001g0030 a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0006t0001g0045 a0001c0006t0001g0233 a0001c0006t0001g0234	8	155	0.0516	23	c.-47 others(34): Show c.-4731_-4730insAAAAAAAAAAAAAAAAAAAAAAA	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding		4386		chr15	TogoVar
VPS35_chr16_46651132_46694178	46663862	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	5	0.2000	23	c.164 others(40): Show c.1648-723_1648-701dupAAAAAAAAAAAAAAAAAAAAAAA	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding	13/16			chr16	TogoVar
VPS37A_chr8_17241958_17303024	17243703	A A	AGAATTGC others(16): Show AGAATTGCATGCCACCTACTCACT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	382	0.0026	23	c.-35 others(34): Show c.-3542_-3541insGAATTGCATGCCACCTACTCACT	VPS37A	ENSG00000155975.10	transcript	ENST00000324849.9	protein_coding		3254		chr8	TogoVar
VPS41_chr7_38717974_38914191	38723723	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp2 HG03490.hp2 HG02622.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0152 a0001c0001t0030g0206 a0001c0001t0030g0152 a0001c0001t0030g0206	2	73	0.0274	23	c.25 others(34): Show c.2500_*2522dupTTTTTTTTTTTTTTTTTTTTTTT	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	29/29	2522		chr7	TogoVar
VPS41_chr7_38717974_38914191	38744776	G G	GAGCACCC others(16): Show GAGCACCCATGAATCTGCATACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0253 a0001c0001t0025g0253	1	276	0.0036	23	c.198 others(40): Show c.1981+760_1981+782dupGTGTATGCAGATTCATGGGTGCT	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	23/28			chr7	TogoVar
VPS4A_chr16_69306350_69331939	69310070	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	34	0.0294	23	c.-14 others(34): Show c.-1442_-1441insTTTTTTTTTTTTTTTTTTTTTTT	VPS4A	ENSG00000132612.16	transcript	ENST00000254950.13	protein_coding		1279		chr16	TogoVar
VPS4A_chr16_69306350_69331939	69311944	T T	TCACTTCG others(16): Show TCACTTCGAACAAGCCCCGGCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	364	0.0027	23	c.21+ others(36): Show c.21+413_21+435dupCACTTCGAACAAGCCCCGGCCCC	VPS4A	ENSG00000132612.16	transcript	ENST00000254950.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS53_chr17_503668_719839	547636	C C	CTAAAAAT others(16): Show CTAAAAATATACTAAAAACAACTA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19060.hp2 NA18950.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0091 a0001c0001t0015 a0001c0001t0091	a0001c0001t0015g0131 a0001c0001t0091g0129 a0001c0001t0015g0131 a0001c0001t0091g0129	2	230	0.0087	23	c.186 others(42): Show c.1866+4235_1866+4236insTAGTTGTTTTTAGTATATTTTTA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	571523	T T	TCTCCCTA others(16): Show TCTCCCTACGGTCTCCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(38): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00621.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG01978.hp1 HG02135.hp1 HG02738.hp1 HG02886.hp1 HG03516.hp2 HG04204.hp2 NA18940.hp1 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18967.hp1 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA19007.hp1 NA19009.hp1 NA19065.hp1 NA19070.hp1 NA19079.hp1 NA19084.hp1 NA19090.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(22): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0021 a0001c0002t0023 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0045 a0001c0002t0052 a0001c0002t0061 a0001c0002t0069 a0001c0002t0072 a0001c0002t0073 a0001c0002t0075 a0001c0002t0076 a0001c0002t0079 a0001c0002t0080 a0002c0003t0027	a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0001g0066 others(38): Show a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0090 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0072 a0001c0002t0005g0061 a0001c0002t0005g0065 a0001c0002t0007g0058 a0001c0002t0007g0062 a0001c0002t0007g0063 a0001c0002t0007g0081 a0001c0002t0010g0057 a0001c0002t0013g0078 a0001c0002t0013g0083 a0001c0002t0014g0074 a0001c0002t0014g0077 a0001c0002t0021g0087 a0001c0002t0023g0085 a0001c0002t0025g0076 a0001c0002t0026g0073 a0001c0002t0026g0088 a0001c0002t0027g0070 a0001c0002t0028g0075 a0001c0002t0029g0059 a0001c0002t0029g0060 a0001c0002t0045g0064 a0001c0002t0052g0089 a0001c0002t0061g0052 a0001c0002t0069g0071 a0001c0002t0072g0051 a0001c0002t0073g0050 a0001c0002t0075g0041 a0001c0002t0076g0086 a0001c0002t0079g0069 a0001c0002t0080g0067 a0002c0003t0027g0068	41	230	0.1783	23	c.131 others(42): Show c.1314-8801_1314-8779dupGGGGAGAGGGAGACCGTAGGGAG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	13/21			chr17	TogoVar
VPS53_chr17_503668_719839	669592	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0050 a0001c0005t0050	a0001c0005t0050g0011 a0001c0005t0050g0011	1	87	0.0115	23	c.286 others(40): Show c.286-7698_286-7697insTTTTTTTTTTTTTTTTTTTTTTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS54_chr2_63887150_64024428	63938059	G G	GGTGTGTG others(16): Show GGTGTGTGTGGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0182 a0001c0003t0001g0182	1	103	0.0097	23	c.139 others(42): Show c.1399-4047_1399-4046insACACACACACACACCACACACAC	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	11/22			chr2	TogoVar
VPS54_chr2_63887150_64024428	63967718	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01952.hp2 HG02055.hp2 others(4): Show HG00140.hp1 HG01952.hp2 HG02055.hp2 HG02109.hp2 HG02622.hp1 HG02976.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0001 a0002c0002t0001 a0001c0004t0001 a0002c0002t0001	a0001c0004t0001g0021 a0001c0004t0001g0024 a0001c0004t0001g0049 others(4): Show a0001c0004t0001g0021 a0001c0004t0001g0024 a0001c0004t0001g0049 a0001c0004t0001g0053 a0001c0004t0001g0054 a0002c0002t0001g0125 a0002c0002t0001g0126	7	116	0.0603	23	c.492 others(40): Show c.492+1238_492+1239insTTTTTTTTTTTTTTTTTTTTTTT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	5/22			chr2	TogoVar
VPS8_chr3_184807166_185057604	184842186	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	100	0.0100	23	c.536 others(40): Show c.536-1053_536-1031dupAAAAAAAAAAAAAAAAAAAAAAA	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRTN_chr14_74343471_74365008	74344246	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG03490.hp2 HG00642.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0004 a0001c0001t0001g0030	2	5	0.4000	23	c.-44 others(34): Show c.-4408_-4407insAAAAAAAAAAAAAAAAAAAAAAA	VRTN	ENSG00000133980.5	transcript	ENST00000256362.5	protein_coding		4224		chr14	TogoVar
VSIG4_chrX_66016738_66045080	66037757	C C	CGTATATA others(16): Show CGTATATATACTTATTGCTGATAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp2 HG01358.hp1 others(1): Show HG00099.hp1 HG01081.hp2 HG01358.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0002g0029	4	175	0.0229	23	c.55+ others(38): Show c.55+2164_55+2186dupTTATCAGCAATAAGTATATATAC	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
VSNL1_chr2_17535696_17662018	17642309	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp2 HG01496.hp2 HG01257.hp1 HG01257.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013	a0001c0001t0005g0095 a0001c0001t0006g0028 a0001c0001t0013g0094 a0001c0001t0005g0095 a0001c0001t0006g0028 a0001c0001t0013g0094	3	73	0.0411	23	c.163 others(40): Show c.163-7084_163-7083insTTTTTTTTTTTTTTTTTTTTTTT	VSNL1	ENSG00000163032.12	transcript	ENST00000295156.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
VSTM5_chr11_93813232_93855618	93837011	G G	GACACACA others(16): Show GACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	22	0.0455	23	c.91+ others(40): Show c.91+13400_91+13401insTGTGTGTGTGTGTGTGTGTGTGT	VSTM5	ENSG00000214376.6	transcript	ENST00000409977.2	protein_coding	1/3			chr11	TogoVar
VSX1_chr20_25070463_25087141	25086999	C C	CTGCCCGA others(16): Show CTGCCCGATGTTGTCGTGTGCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	366	0.0027	23	c.-49 others(34): Show c.-4904_-4903insTGGGCACACGACAACATCGGGCA	VSX1	ENSG00000100987.15	transcript	ENST00000376709.9	protein_coding		4859		chr20	TogoVar
VSX2_chr14_74234449_74267738	74254784	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00597.hp2 others(22): Show HG00280.hp2 HG00323.hp1 HG00597.hp2 HG00733.hp1 HG01099.hp2 HG01255.hp2 HG02015.hp1 HG02148.hp2 HG02809.hp1 HG02895.hp1 HG03704.hp1 NA18747.hp1 NA18951.hp1 NA18951.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18994.hp2 NA19007.hp1 NA19043.hp2 NA19057.hp1 NA19075.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0019 a0001c0001t0001 a0001c0001t0008 a0001c0001t0019	a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0040 others(18): Show a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0144 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0008g0030 a0001c0001t0008g0119 a0001c0001t0008g0174 a0001c0001t0019g0176	25	106	0.2358	23	c.580 others(40): Show c.580-4805_580-4804insTTTTTTTTTTTTTTTTTTTTTTT	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
VTA1_chr6_142142263_142229685	142181094	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	53	0.0189	23	c.412 others(40): Show c.412-8331_412-8330insAAATATATATATATATATATATA	VTA1	ENSG00000009844.16	transcript	ENST00000367630.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
VTA1_chr6_142142263_142229685	142181094	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	53	0.0189	23	c.412 others(40): Show c.412-8331_412-8330insATATATATATATATATATATATA	VTA1	ENSG00000009844.16	transcript	ENST00000367630.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
VTI1A_chr10_112442215_112823744	112455169	T T	TCCTCTCT others(16): Show TCCTCTCTCCCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01081.hp1 HG01109.hp2 others(23): Show HG00597.hp1 HG01081.hp1 HG01109.hp2 HG02074.hp2 HG02080.hp2 HG02257.hp2 HG02523.hp2 HG02723.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03453.hp2 HG03688.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18945.hp1 NA18947.hp2 NA18962.hp2 NA18963.hp2 NA18971.hp1 NA18981.hp2 NA18995.hp1 NA18998.hp2 NA19081.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0014	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0165 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0121 a0001c0001t0002g0134 a0001c0001t0002g0149 a0001c0001t0004g0109 a0001c0001t0005g0015 a0001c0001t0008g0003 a0001c0001t0014g0024	26	95	0.2737	23	c.95- others(38): Show c.95-5351_95-5350insTCTCCCCCTCCTCCCCTCCCCTC	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114246505	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03225.hp2 HG03453.hp2 others(1): Show HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0003c0007 a0006c0006 a0003c0003 a0003c0007 a0006c0006	a0003c0003t0010 a0003c0003t0025 a0003c0007t0014 others(1): Show a0003c0003t0010 a0003c0003t0025 a0003c0007t0014 a0006c0006t0015	a0003c0003t0010g0050 a0003c0003t0025g0051 a0003c0007t0014g0007 others(1): Show a0003c0003t0010g0050 a0003c0003t0025g0051 a0003c0007t0014g0007 a0006c0006t0015g0049	4	168	0.0238	23	c.-10 others(40): Show c.-10-2179_-10-2178insAAAAAAAAAAAAAAAAAAAAAAA	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA3A_chr16_22087541_22161964	22115923	A A	AAGGAAGG others(16): Show AAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0029 a0029	a0029c0028 a0029c0028	a0029c0028t0001 a0029c0028t0001	a0029c0028t0001g0028 a0029c0028t0001g0028	1	287	0.0035	23	c.815 others(38): Show c.815+452_815+453insGGAAGGAAGGAAGGAAGGAAGGA	VWA3A	ENSG00000175267.15	transcript	ENST00000389398.10	protein_coding	9/33		INFO_REALIGN_3_PRIME	chr16	TogoVar
VWA8_chr13_41561835_41966109	41882797	A A	AGAGAGGG others(16): Show AGAGAGGGAGAGGGAGACCGTGGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG02074.hp2 HG00438.hp1 HG00558.hp2 HG02074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0149 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0149	3	219	0.0137	23	c.108 others(40): Show c.1080+567_1080+589dupCCCACGGTCTCCCTCTCCCTCTC	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	9/44			chr13	TogoVar
VWC2L_chr2_214406054_214583976	214421885	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03098.hp1 HG03486.hp2 HG01884.hp2 HG03098.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011	a0001c0001t0003g0004 a0001c0001t0006g0128 a0001c0001t0011g0003 a0001c0001t0003g0004 a0001c0001t0006g0128 a0001c0001t0011g0003	3	113	0.0265	23	c.390 others(40): Show c.390+7304_390+7326dupTTTTTTTTTTTTTTTTTTTTTTT	VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWC2_chr7_49768638_49926950	49877481	A A	AAAAAAAT others(16): Show AAAAAAATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0241 a0003c0003t0011g0241	1	88	0.0114	23	c.827 others(42): Show c.827-34552_827-34551insAAAAATATACATATATATATATA	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(16): Show AAAAATATACATACATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0046 a0002c0002t0046	a0002c0002t0046g0050 a0002c0002t0046g0050	1	88	0.0114	23	c.827 others(42): Show c.827-34552_827-34551insAAATATACATACATATATATATA	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(16): Show AAAAATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01981.hp2 HG03139.hp2 others(3): Show HG00423.hp1 HG01981.hp2 HG03139.hp2 NA18944.hp1 NA18964.hp1 NA19010.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0009 a0001c0001t0044 others(3): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0044 a0001c0001t0054 a0002c0002t0002 a0003c0003t0033	a0001c0001t0002g0191 a0001c0001t0009g0175 a0001c0001t0044g0138 others(3): Show a0001c0001t0002g0191 a0001c0001t0009g0175 a0001c0001t0044g0138 a0001c0001t0054g0004 a0002c0002t0002g0030 a0003c0003t0033g0236	6	93	0.0645	23	c.827 others(42): Show c.827-34552_827-34551insAAATATACATATATATATATATA	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VWF_chr12_5943877_6129670	5983521	T T	TAGATAGA others(16): Show TAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0175 a0001c0175	a0001c0175t0001 a0001c0175t0001	a0001c0175t0001g0223 a0001c0175t0001g0223	1	210	0.0048	23	c.697 others(40): Show c.6977-268_6977-267insTCTATCTATCTATCTATCTATCT	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	40/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6126490	A A	AGAGTGGA others(16): Show AGAGTGGAAGTGGAATTCGAAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0001 a0004c0021t0001	a0004c0021t0001g0236 a0004c0021t0001g0236	1	286	0.0035	23	c.-20 others(34): Show c.-2071_-2070insGCCTTCGAATTCCACTTCCACTC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding		1821		chr12	TogoVar
WARS1_chr14_100328790_100380347	100371447	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA19091.hp2 HG03834.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0221 a0001c0001t0001g0222	2	117	0.0171	23	c.-73 others(40): Show c.-73-2190_-73-2189insTTTTTTTTTTTTTTTTTTTTTTT	WARS1	ENSG00000140105.18	transcript	ENST00000392882.7	protein_coding	1/10			chr14	TogoVar
WASF1_chr6_110094819_110184670	110124235	C C	CCTCTCTC others(16): Show CCTCTCTCTCCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	146	0.0068	23	c.133 others(40): Show c.133+3233_133+3234insAGAGAGAGAGAGAGGAGAGAGAG	WASF1	ENSG00000112290.13	transcript	ENST00000392589.6	protein_coding	4/10			chr6	TogoVar
WASF1_chr6_110094819_110184670	110142952	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18955.hp2 NA18989.hp1 HG02132.hp1 NA18955.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0156 a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0004g0156 a0001c0001t0004g0173 a0001c0001t0004g0175	3	9	0.3333	23	c.-28 others(42): Show c.-28-15324_-28-15323insTTTTTTTTTTTTTTTTTTTTTTT	WASF1	ENSG00000112290.13	transcript	ENST00000392589.6	protein_coding	3/10			chr6	TogoVar
WASF3_chr13_26552683_26693948	26554096	C C	CTTCTTCT others(16): Show CTTCTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0017 a0001c0001t0015g0017	1	22	0.0455	23	c.-38 others(34): Show c.-3832_-3831insTTCTTCTTTCTTTCTTTCTTTCT	WASF3	ENSG00000132970.14	transcript	ENST00000335327.6	protein_coding		3586		chr13	TogoVar
WASF3_chr13_26552683_26693948	26578993	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02451.hp2 NA18982.hp2 HG02071.hp1 HG02451.hp2 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0007 a0002c0003 a0001c0002 a0001c0007 a0002c0003	a0001c0002t0006 a0001c0007t0002 a0002c0003t0003 a0001c0002t0006 a0001c0007t0002 a0002c0003t0003	a0001c0002t0006g0106 a0001c0007t0002g0040 a0002c0003t0003g0062 a0001c0002t0006g0106 a0001c0007t0002g0040 a0002c0003t0003g0062	3	13	0.2308	23	c.-10 others(44): Show c.-109+21175_-109+21197dupTTTTTTTTTTTTTTTTTTTTTTT	WASF3	ENSG00000132970.14	transcript	ENST00000335327.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
WASHC2C_chr10_45722266_45797964	45749836	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0270 a0010c0009t0001g0270	1	119	0.0084	23	c.733 others(38): Show c.733-259_733-258insATATATATATATATATATATATA	WASHC2C	ENSG00000172661.20	transcript	ENST00000623400.4	protein_coding	8/30		INFO_REALIGN_3_PRIME	chr10	TogoVar
WBP1L_chr10_102738948_102821262	102768371	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0014 a0002c0004t0014	a0002c0004t0014g0173 a0002c0004t0014g0173	1	327	0.0031	23	c.90+ others(40): Show c.90+24231_90+24253dupTTTTTTTTTTTTTTTTTTTTTTT	WBP1L	ENSG00000166272.18	transcript	ENST00000448841.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDFY4_chr10_48679873_48987956	48974502	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0075 a0075	a0075c0093 a0075c0093	a0075c0093t0001 a0075c0093t0001	a0075c0093t0001g0004 a0075c0093t0001g0004	1	65	0.0154	23	c.892 others(40): Show c.8929-355_8929-333dupAAAAAAAAAAAAAAAAAAAAAAA	WDFY4	ENSG00000128815.20	transcript	ENST00000325239.12	protein_coding	57/61		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDFY4_chr10_48679873_48987956	48974527	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAACAAAACAAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0006 a0009c0015t0006	a0009c0015t0006g0032 a0009c0015t0006g0032	1	179	0.0056	23	c.892 others(40): Show c.8929-333_8929-332insAAAAAAAAAAAACAAAACAACAA	WDFY4	ENSG00000128815.20	transcript	ENST00000325239.12	protein_coding	57/61		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDHD1_chr14_54933949_55032099	55013194	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0002 a0013c0015t0002	a0013c0015t0002g0150 a0013c0015t0002g0150	1	110	0.0091	23	c.189 others(38): Show c.189+268_189+290dupTTTTTTTTTTTTTTTTTTTTTTT	WDHD1	ENSG00000198554.12	transcript	ENST00000360586.8	protein_coding	3/25			chr14	TogoVar
WDPCP_chr2_63114559_63593477	63572701	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp1 HG06807.hp1 HG02630.hp1 HG02922.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202	3	7	0.4286	23	c.75+ others(40): Show c.75+15473_75+15495dupTTTTTTTTTTTTTTTTTTTTTTT	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDR17_chr4_176060841_176187815	176155548	T T	TTTTTTTT others(16): Show TTTTTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01081.hp2 others(17): Show HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01109.hp2 HG01891.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp2 NA18906.hp1 NA19240.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0008 a0027	a0001c0001 a0002c0002 a0005c0005 others(2): Show a0001c0001 a0002c0002 a0005c0005 a0008c0007 a0027c0015	a0001c0001t0010 a0001c0001t0019 a0002c0002t0009 others(4): Show a0001c0001t0010 a0001c0001t0019 a0002c0002t0009 a0002c0002t0017 a0005c0005t0004 a0008c0007t0036 a0027c0015t0017	a0001c0001t0010g0009 a0001c0001t0010g0017 a0001c0001t0010g0018 others(17): Show a0001c0001t0010g0009 a0001c0001t0010g0017 a0001c0001t0010g0018 a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0001t0010g0342 a0001c0001t0010g0343 a0001c0001t0010g0345 a0001c0001t0010g0346 a0001c0001t0019g0012 a0001c0001t0019g0015 a0001c0001t0019g0016 a0001c0001t0019g0021 a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0014 a0002c0002t0017g0140 a0005c0005t0004g0097 a0008c0007t0036g0010 a0027c0015t0017g0319	20	354	0.0565	23	c.246 others(40): Show c.2461-524_2461-523insGTTTTGTTTTGTTTTGTTTTTTT	WDR17	ENSG00000150627.16	transcript	ENST00000508596.6	protein_coding	17/28		INFO_REALIGN_3_PRIME	chr4	TogoVar

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