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
VRK2_chr2_58041806_58164871	58120184	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG01167.hp1 others(1): Show HG00099.hp2 HG00597.hp1 HG01167.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0163 a0001c0001t0001g0285 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0163 a0001c0001t0001g0285 a0001c0001t0001g0306	4	128	0.0313	22	c.544 others(39): Show c.544-2914_544-2893dupTTTTTTTTTTTTTTTTTTTTTT	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(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18978.hp2 HG03041.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0278 a0001c0001t0001g0052 a0001c0001t0001g0278	2	27	0.0741	22	c.118 others(41): Show c.1182+5272_1182+5293dupTTTTTTTTTTTTTTTTTTTTTT	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(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG03834.hp2 HG00280.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0019t0001 a0001c0001t0001 a0001c0019t0001	a0001c0001t0001g0071 a0001c0019t0001g0005 a0001c0001t0001g0071 a0001c0019t0001g0005	2	5	0.4000	22	c.-44 others(33): Show c.-4408_-4407insAAAAAAAAAAAAAAAAAAAAAA	VRTN	ENSG00000133980.5	transcript	ENST00000256362.5	protein_coding		4224		chr14	TogoVar
VSIG10L2_chr11_125941044_125961319	125958565	A A	ATATGTGT others(15): Show ATATGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0007 a0005c0011t0001g0007	1	94	0.0106	22	c.26 others(33): Show c.2651_*2652insTATGTGTGTGTGTGTGTGTGTG	VSIG10L2	ENSG00000283703.3	transcript	ENST00000686984.1	protein_coding		2247		chr11	TogoVar
VSIG10L_chr19_51326541_51347139	51328339	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	385	0.0026	22	c.42 others(33): Show c.4271_*4272insTTTTTTTTTTTTTTTTTTTTTT	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding		3201		chr19	TogoVar
VSIR_chr10_71742556_71778520	71759846	C C	CACACATA others(15): Show CACACATACACACACACACACAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0277 a0003c0005t0001g0277	1	249	0.0040	22	c.568 others(39): Show c.568+1021_568+1022insATGTGTGTGTGTGTGTATGTGT	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar
VSIR_chr10_71742556_71778520	71759846	C C	CACACATA others(15): Show CACACATATACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0122 a0002c0002t0122	a0002c0002t0122g0072 a0002c0002t0122g0072	1	249	0.0040	22	c.568 others(39): Show c.568+1021_568+1022insATGTGTGTGTGTGTATATGTGT	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar
VSIR_chr10_71742556_71778520	71759846	C C	CACATATA others(15): Show CACATATACACACACACACACAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19081.hp1 NA19000.hp2 NA19081.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0064 a0003c0005t0001g0064	2	250	0.0080	22	c.568 others(39): Show c.568+1021_568+1022insATGTGTGTGTGTGTGTATATGT	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar
VSNL1_chr2_17535696_17662018	17617885	A A	ACACATGC others(15): Show ACACATGCACATGCACATGCACG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00642.hp2 others(21): Show HG00099.hp2 HG00280.hp1 HG00642.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01168.hp1 HG01261.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG02055.hp1 HG02129.hp2 HG02155.hp2 HG02698.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG04184.hp2 HG04228.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012	a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0121 others(21): Show a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0005g0095 a0001c0001t0005g0175 a0001c0001t0012g0134 a0001c0001t0012g0142 a0001c0001t0012g0144 a0001c0001t0012g0188	24	230	0.1043	22	c.162 others(41): Show c.162+25650_162+25651insACATGCACATGCACATGCACGC	VSNL1	ENSG00000163032.12	transcript	ENST00000295156.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
VSNL1_chr2_17535696_17662018	17642309	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	71	0.0141	22	c.163 others(39): Show c.163-7084_163-7083insTTTTTTTTTTTTTTTTTTTTTT	VSNL1	ENSG00000163032.12	transcript	ENST00000295156.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
VSTM2A_chr7_54537375_54576067	54546670	A A	AGGGACAG others(15): Show AGGGACAGCGCCGGGACAGCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01255.hp1 HG00099.hp2 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0076 a0001c0001t0002g0077	2	292	0.0068	22	c.247 others(37): Show c.247-258_247-257insCCCGGGACAGCGCCGGGACAGC	VSTM2A	ENSG00000170419.11	transcript	ENST00000402613.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
VSTM2L_chr20_37898127_37950350	37911892	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGCATGTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	235	0.0043	22	c.121 others(39): Show c.121+8425_121+8446dupGTGTGTGTGTGTGCATGTGTGT	VSTM2L	ENSG00000132821.12	transcript	ENST00000373461.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
VSTM4_chr10_49009236_49120522	49096622	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01981.hp1 HG03130.hp1 HG01109.hp1 HG01981.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0036 a0001c0003t0004 a0001c0003t0036	a0001c0003t0004g0198 a0001c0003t0004g0206 a0001c0003t0036g0197 a0001c0003t0004g0198 a0001c0003t0004g0206 a0001c0003t0036g0197	3	78	0.0385	22	c.458 others(41): Show c.458-10621_458-10600dupACACACACACACACACACACAC	VSTM4	ENSG00000165633.13	transcript	ENST00000332853.9	protein_coding	2/7			chr10	TogoVar
VSX2_chr14_74234449_74267738	74237529	T T	TCATCACT others(15): Show TCATCACTCACACACTTGTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	420	0.0024	22	c.-20 others(33): Show c.-2033_-2032insCATCACTCACACACTTGTTTTC	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding		1919		chr14	TogoVar
VSX2_chr14_74234449_74267738	74254784	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02818.hp2 others(1): Show HG01257.hp2 HG01258.hp2 HG02818.hp2 HG03130.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0008 a0003c0005t0007 a0001c0001t0001 a0001c0001t0008 a0003c0005t0007	a0001c0001t0001g0094 a0001c0001t0008g0029 a0003c0005t0007g0055 a0001c0001t0001g0094 a0001c0001t0008g0029 a0003c0005t0007g0055	4	85	0.0471	22	c.580 others(39): Show c.580-4805_580-4804insTTTTTTTTTTTTTTTTTTTTTT	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
VTA1_chr6_142142263_142229685	142181092	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	295	0.0034	22	c.412 others(39): Show c.412-8333_412-8332insTATATATATATATATATATATA	VTA1	ENSG00000009844.16	transcript	ENST00000367630.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
VTA1_chr6_142142263_142229685	142181094	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp2 NA18960.hp2 others(2): Show HG01243.hp2 HG01255.hp2 NA18960.hp2 NA18968.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0149 a0001c0001t0002g0287 a0001c0001t0010g0191 others(2): Show a0001c0001t0002g0149 a0001c0001t0002g0287 a0001c0001t0010g0191 a0001c0001t0010g0279 a0001c0001t0010g0280	5	57	0.0877	22	c.412 others(39): Show c.412-8331_412-8330insAATATATATATATATATATATA	VTA1	ENSG00000009844.16	transcript	ENST00000367630.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
VTA1_chr6_142142263_142229685	142181094	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19004.hp2 HG01496.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0286 a0001c0001t0002g0036 a0001c0001t0002g0286	2	54	0.0370	22	c.412 others(39): Show c.412-8330_412-8309dupTATATATATATATATATATATA	VTA1	ENSG00000009844.16	transcript	ENST00000367630.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
VTCN1_chr1_117138587_117215927	117157092	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01243.hp2 HG01358.hp1 others(9): Show HG01099.hp1 HG01243.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG02257.hp1 HG02615.hp1 HG02622.hp2 HG02723.hp2 HG02896.hp2 HG03209.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0005 a0001c0001t0002g0076 a0001c0001t0002g0129 others(8): Show a0001c0001t0002g0005 a0001c0001t0002g0076 a0001c0001t0002g0129 a0001c0001t0003g0036 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0166	12	137	0.0876	22	c.98- others(35): Show c.98-193_98-172dupATATATATATATATATATATAT	VTCN1	ENSG00000134258.18	transcript	ENST00000369458.8	protein_coding	2/5			chr1	TogoVar
VTI1A_chr10_112442215_112823744	112537311	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02055.hp2 HG02080.hp1 others(7): Show HG00438.hp1 HG02055.hp2 HG02080.hp1 HG02300.hp2 HG02451.hp2 HG03139.hp2 HG03491.hp1 HG04184.hp2 NA18906.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0004t0002	a0001c0001t0001g0082 a0001c0001t0001g0102 a0001c0001t0001g0142 others(7): Show a0001c0001t0001g0082 a0001c0001t0001g0102 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0002g0081 a0001c0001t0002g0089 a0001c0001t0003g0071 a0001c0001t0013g0106 a0001c0004t0002g0016	10	33	0.3030	22	c.343 others(37): Show c.343-929_343-908dupATATATATATATATATATATAT	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112618516	T T	TAGAGAGA others(15): Show TAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	125	0.0080	22	c.428 others(41): Show c.428-49701_428-49700insGAGAGAGAGAGAGAGAGAGAGA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112618522	T T	TAGAGAGA others(15): Show TAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0116 a0001c0001t0004g0116	1	71	0.0141	22	c.428 others(41): Show c.428-49695_428-49694insGAGAGAGAGAGAGAGAGAGAGA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112618524	T T	TATAGAGA others(15): Show TATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	2	0.5000	22	c.428 others(41): Show c.428-49693_428-49692insTAGAGAGAGAGAGAGAGAGAGA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112618524	T T	TATATAGA others(15): Show TATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03041.hp1 HG00597.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0118 a0001c0001t0001g0017 a0001c0001t0001g0118	2	3	0.6667	22	c.428 others(41): Show c.428-49693_428-49692insTATAGAGAGAGAGAGAGAGAGA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114246505	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0015 a0006c0006t0015	a0006c0006t0015g0052 a0006c0006t0015g0052	1	165	0.0061	22	c.-10 others(39): Show c.-10-2179_-10-2178insAAAAAAAAAAAAAAAAAAAAAA	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA3A_chr16_22087541_22161964	22153738	A A	ATTTCACA others(15): Show ATTTCACAGGACATGGCATAATT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0164 a0002c0002t0001g0164	1	267	0.0037	22	c.340 others(41): Show c.3405+1107_3405+1108insCACAGGACATGGCATAATTTTT	VWA3A	ENSG00000175267.15	transcript	ENST00000389398.10	protein_coding	31/33		INFO_REALIGN_3_PRIME	chr16	TogoVar
VWA3B_chr2_98082167_98318299	98129224	A A	AGAGAGTG others(15): Show AGAGAGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18998.hp2 NA18985.hp1 NA18998.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0088 a0004c0005t0002g0120 a0004c0005t0002g0088 a0004c0005t0002g0120	2	112	0.0179	22	c.872 others(37): Show c.872+817_872+818insAGAGTGTGTGTGTGTGTGTGTG	VWA3B	ENSG00000168658.20	transcript	ENST00000477737.6	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWA3B_chr2_98082167_98318299	98166799	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03209.hp2 NA18993.hp1 HG02896.hp2 HG03209.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0125 a0001c0001t0001g0150 a0001c0001t0003g0232 a0001c0001t0001g0125 a0001c0001t0001g0150 a0001c0001t0003g0232	3	17	0.1765	22	c.111 others(41): Show c.1114+3828_1114+3849dupACACACACACACACACACACAC	VWA3B	ENSG00000168658.20	transcript	ENST00000477737.6	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWA5A_chr11_124110450_124152721	124114503	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0009 a0009	a0009c0034 a0009c0034	a0009c0034t0001 a0009c0034t0001	a0009c0034t0001g0083 a0009c0034t0001g0083	1	80	0.0125	22	c.-11 others(33): Show c.-1110_-1109insTATATATATATATATATATATA	VWA5A	ENSG00000110002.16	transcript	ENST00000456829.7	protein_coding		946		chr11	TogoVar
VWA5B1_chr1_20285875_20364518	20291359	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	58	0.0172	22	c.-27 others(37): Show c.-27+274_-27+275insTTCTTTCTCTCTCTCTCTCTCT	VWA5B1	ENSG00000158816.16	transcript	ENST00000289815.13	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
VWA5B1_chr1_20285875_20364518	20291359	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01255.hp1 HG02886.hp1 HG00735.hp1 HG01255.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0010g0117 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0010g0117	3	60	0.0500	22	c.-27 others(37): Show c.-27+274_-27+275insTTCTTTCTTTCTCTCTCTCTCT	VWA5B1	ENSG00000158816.16	transcript	ENST00000289815.13	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
VWA8_chr13_41561835_41966109	41573486	A A	AAAATAAA others(15): Show AAAATAAATAAATAAATAAATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0013 a0014c0017t0013	a0014c0017t0013g0250 a0014c0017t0013g0250	1	132	0.0076	22	c.537 others(41): Show c.5370+2253_5370+2254insATATTTATTTATTTATTTATTT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	43/44			chr13	TogoVar
VWA8_chr13_41561835_41966109	41573610	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG01516.hp2 others(9): Show HG00544.hp1 HG00558.hp1 HG01516.hp2 HG01993.hp2 HG02027.hp1 HG03486.hp1 NA18942.hp2 NA18983.hp1 NA18989.hp2 NA19004.hp2 NA19012.hp1 NA19077.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0004 a0003c0003 others(1): Show a0001c0001 a0001c0004 a0003c0003 a0009c0025	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0003c0003t0004 a0009c0025t0002	a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0129 others(9): Show a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0129 a0001c0001t0004g0122 a0001c0004t0001g0124 a0001c0004t0001g0131 a0001c0004t0001g0147 a0003c0003t0004g0095 a0003c0003t0004g0098 a0003c0003t0004g0151 a0003c0003t0004g0152 a0009c0025t0002g0008	12	141	0.0851	22	c.537 others(41): Show c.5370+2129_5370+2130insATATATATATATATATATATAT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	43/44			chr13	TogoVar
VWA8_chr13_41561835_41966109	41784699	T T	TATACATA others(15): Show TATACATATACATATACATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00673.hp2 others(18): Show HG00140.hp1 HG00423.hp1 HG00673.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG02129.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp2 NA18964.hp1 NA18971.hp2 NA18978.hp1 NA18990.hp1 NA18992.hp2 NA18998.hp1 NA19009.hp2 NA19056.hp1 NA19062.hp1 NA19065.hp1 NA19090.hp2	a0001 a0003 a0009 others(2): Show a0001 a0003 a0009 a0015 a0017	a0001c0001 a0003c0003 a0009c0010 others(2): Show a0001c0001 a0003c0003 a0009c0010 a0015c0021 a0017c0020	a0001c0001t0001 a0001c0001t0012 a0003c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0012 a0003c0003t0001 a0009c0010t0001 a0015c0021t0001 a0017c0020t0001	a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0204 others(18): Show a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0012g0213 a0003c0003t0001g0157 a0009c0010t0001g0197 a0015c0021t0001g0232 a0017c0020t0001g0221	21	240	0.0875	22	c.217 others(39): Show c.2171-799_2171-798insGTATATGTATATGTATATGTAT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	18/44			chr13	TogoVar
VWA8_chr13_41561835_41966109	41784727	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	150	0.0067	22	c.217 others(39): Show c.2171-827_2171-826insGTATATATATATATATATATAT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	18/44			chr13	TogoVar
VWA8_chr13_41561835_41966109	41784737	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03579.hp1 HG02056.hp1 HG03579.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0005 a0005c0005t0001 a0005c0005t0005	a0005c0005t0001g0030 a0005c0005t0005g0004 a0005c0005t0001g0030 a0005c0005t0005g0004	2	176	0.0114	22	c.217 others(39): Show c.2171-858_2171-837dupATATATATATATATATATATAT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	18/44			chr13	TogoVar
VWC2L_chr2_214406054_214583976	214421885	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02451.hp1 HG01175.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0127 a0001c0001t0001g0002 a0001c0001t0001g0127	2	112	0.0179	22	c.390 others(39): Show c.390+7305_390+7326dupTTTTTTTTTTTTTTTTTTTTTT	VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWC2L_chr2_214406054_214583976	214561809	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01074.hp1 HG01884.hp1 others(13): Show HG01071.hp1 HG01074.hp1 HG01884.hp1 HG02083.hp1 HG02523.hp1 HG02723.hp1 HG02886.hp1 HG02922.hp2 HG03098.hp2 HG06807.hp2 NA18612.hp2 NA18943.hp2 NA18987.hp2 NA19043.hp2 NA19087.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0157 a0001c0001t0002g0023 a0001c0001t0002g0040 others(13): Show a0001c0001t0001g0157 a0001c0001t0002g0023 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0083 a0001c0001t0002g0089 a0001c0001t0002g0166 a0001c0001t0002g0187 a0001c0001t0009g0231 a0001c0001t0010g0148	16	216	0.0741	22	c.521 others(41): Show c.521-13862_521-13861insTATATATATATATATATATACA	VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWC2_chr7_49768638_49926950	49770814	G G	GAGGGGAG others(15): Show GAGGGGAGGGGGAGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0173 a0001c0001t0019g0173	1	254	0.0039	22	c.-34 others(33): Show c.-3403_-3402insAGGGGAGGGGGAGGGGAGGGGA	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding		2823		chr7	TogoVar
VWC2_chr7_49768638_49926950	49877481	A A	AAAAAATA others(15): Show AAAAAATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03669.hp1 HG01981.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0145 a0001c0001t0002g0149 a0001c0001t0001g0145 a0001c0001t0002g0149	2	89	0.0225	22	c.827 others(41): Show c.827-34552_827-34551insAAAATATACATATATATATATA	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VWF_chr12_5943877_6129670	6055761	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02523.hp2 NA19009.hp1 HG02074.hp1 HG02523.hp2 NA19009.hp1	a0001 a0001	a0001c0007 a0001c0042 a0001c0007 a0001c0042	a0001c0007t0001 a0001c0042t0001 a0001c0007t0001 a0001c0042t0001	a0001c0007t0001g0185 a0001c0042t0001g0221 a0001c0042t0001g0222 a0001c0007t0001g0185 a0001c0042t0001g0221 a0001c0042t0001g0222	3	21	0.1429	22	c.194 others(41): Show c.1945+1074_1945+1095dupGTGTGTGTGTGTGTGTGTGTGT	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	15/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092610	T T	TGAGAGTG others(15): Show TGAGAGTGAGAGTGAGAGTGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0027 a0027	a0027c0020 a0027c0020	a0027c0020t0001 a0027c0020t0001	a0027c0020t0001g0040 a0027c0020t0001g0040	1	249	0.0040	22	c.657 others(39): Show c.657+2849_657+2850insTCTCACTCTCACTCTCACTCTC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
WAC_chr10_28528118_28628112	28559135	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	312	0.0032	22	c.274 others(41): Show c.274+23378_274+23379insGTGTGTGTGTGTGTGTGTGTGT	WAC	ENSG00000095787.26	transcript	ENST00000354911.9	protein_coding	3/13			chr10	TogoVar
WAC_chr10_28528118_28628112	28559136	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18998.hp1 HG01934.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0046 a0001c0001t0001 a0001c0001t0046	a0001c0001t0001g0212 a0001c0001t0046g0151 a0001c0001t0001g0212 a0001c0001t0046g0151	2	34	0.0588	22	c.274 others(41): Show c.274+23387_274+23408dupGTGTGTGTGTGTGTGTGTGTGT	WAC	ENSG00000095787.26	transcript	ENST00000354911.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WASF1_chr6_110094819_110184670	110124233	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0149 a0001c0001t0004g0149	1	254	0.0039	22	c.133 others(39): Show c.133+3235_133+3236insAGGAGAGAGAGAGAGAGAGAGA	WASF1	ENSG00000112290.13	transcript	ENST00000392589.6	protein_coding	4/10			chr6	TogoVar
WASF1_chr6_110094819_110184670	110124270	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	243	0.0041	22	c.133 others(39): Show c.133+3198_133+3199insTATATATATATATATATATATA	WASF1	ENSG00000112290.13	transcript	ENST00000392589.6	protein_coding	4/10			chr6	TogoVar
WASF1_chr6_110094819_110184670	110124274	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0157 a0001c0001t0004g0157	1	103	0.0097	22	c.133 others(39): Show c.133+3173_133+3194dupTATATATATATATATATATATA	WASF1	ENSG00000112290.13	transcript	ENST00000392589.6	protein_coding	4/10			chr6	TogoVar
WASF1_chr6_110094819_110184670	110124274	C C	CTCTCTAT others(15): Show CTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA18978.hp2 HG01993.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0251 a0001c0001t0002g0235 a0001c0001t0002g0251	2	104	0.0192	22	c.133 others(39): Show c.133+3194_133+3195insTATATATATATATATATAGAGA	WASF1	ENSG00000112290.13	transcript	ENST00000392589.6	protein_coding	4/10			chr6	TogoVar
WASF1_chr6_110094819_110184670	110124274	C C	CTCTCTCT others(15): Show CTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	103	0.0097	22	c.133 others(39): Show c.133+3194_133+3195insTATATATATATATAGAGAGAGA	WASF1	ENSG00000112290.13	transcript	ENST00000392589.6	protein_coding	4/10			chr6	TogoVar
WASF1_chr6_110094819_110184670	110142952	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18964.hp1 NA19007.hp1 others(4): Show NA18950.hp2 NA18964.hp1 NA19007.hp1 NA19078.hp1 NA19085.hp2 NA19087.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0167 a0001c0001t0004g0168 others(4): Show a0001c0001t0004g0154 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172	7	13	0.5385	22	c.-28 others(41): Show c.-28-15324_-28-15323insTTTTTTTTTTTTTTTTTTTTTT	WASF1	ENSG00000112290.13	transcript	ENST00000392589.6	protein_coding	3/10			chr6	TogoVar

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