Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
VCP_chr9_35051064_35077625	35071293	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG02257.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	2	414	0.0048	-17	c.17+ others(32): Show c.17+1027_17+1043delAAAAAAAAAAAAAAAAA	VCP	ENSG00000165280.18	transcript	ENST00000358901.11	protein_coding	1/16			chr9	TogoVar
VCX3B_chrX_8459830_8471510	8466683	AGGAAGAG others(10): Show AGGAAGAGGTGGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19090.hp2 NA19011.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	2	271	0.0074	-17	c.30 others(26): Show c.301_*317delGGAAGAGGTGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		174		chrX	TogoVar
VCX_chrX_7838171_7849143	7844509	GAGGTGTG others(10): Show GAGGTGTGTGAGGAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01346.hp2 HG01496.hp1 others(7): Show HG01257.hp2 HG01346.hp2 HG01496.hp1 HG01928.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1	a0005 a0079 a0005 a0079	a0005c0005 a0079c0090 a0005c0005 a0079c0090	a0005c0005t0004 a0005c0005t0014 a0079c0090t0004 a0005c0005t0004 a0005c0005t0014 a0079c0090t0004	a0005c0005t0004g0001 a0005c0005t0004g0003 a0005c0005t0004g0006 others(2): Show a0005c0005t0004g0001 a0005c0005t0004g0003 a0005c0005t0004g0006 a0005c0005t0014g0003 a0079c0090t0004g0006	10	341	0.0293	-17	c.49 others(26): Show c.494_*510delAGGTGTGTGAGGAGGGA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		367		chrX	TogoVar
VDAC2_chr10_75205796_75236448	75226966	CTTTGTAA others(10): Show CTTTGTAATGAAGTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03540.hp2 HG02723.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	396	0.0051	-17	c.736 others(34): Show c.736-2677_736-2661delTTTGTAATGAAGTCTCT	VDAC2	ENSG00000165637.14	transcript	ENST00000332211.11	protein_coding	8/9			chr10	TogoVar
VDAC3_chr8_42386880_42410937	42387344	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00673.hp2 HG02083.hp1 others(40): Show HG00544.hp2 HG00673.hp2 HG02083.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp2 HG03471.hp1 HG03579.hp1 HG03669.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18961.hp1 NA18969.hp1 NA18972.hp1 NA18973.hp2 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp2 NA18989.hp2 NA18995.hp1 NA19001.hp1 NA19004.hp1 NA19006.hp1 NA19009.hp2 NA19010.hp1 NA19056.hp1 NA19059.hp1 NA19062.hp1 NA19062.hp2 NA19067.hp2 NA19075.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19086.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0015 others(15): Show a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0004g0036	43	288	0.1493	-17	c.-46 others(28): Show c.-4626_-4610delTTTTTTTTTTTTTTTTT	VDAC3	ENSG00000078668.14	transcript	ENST00000022615.9	protein_coding		4535		chr8	TogoVar
VDR_chr12_47836537_47909994	47859892	TCCTTCCT others(10): Show TCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0015 a0002c0005t0015	a0002c0005t0015g0062 a0002c0005t0015g0062	1	358	0.0028	-17	c.278 others(34): Show c.278-2221_278-2205delGAAGGAAGGAAGGAAGG	VDR	ENSG00000111424.12	transcript	ENST00000549336.6	protein_coding	4/9			chr12	TogoVar
VDR_chr12_47836537_47909994	47859896	TCCTTCCT others(10): Show TCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0062 a0001c0009t0062	a0001c0009t0062g0307 a0001c0009t0062g0307	1	358	0.0028	-17	c.278 others(34): Show c.278-2225_278-2209delGAAGGAAGGAAGGAAGG	VDR	ENSG00000111424.12	transcript	ENST00000549336.6	protein_coding	4/9			chr12	TogoVar
VEPH1_chr3_157254742_157508416	157314330	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01261.hp1 HG01884.hp1 others(39): Show HG00544.hp2 HG01261.hp1 HG01884.hp1 HG01891.hp1 HG01978.hp2 HG02027.hp1 HG02145.hp2 HG02280.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp2 HG03688.hp2 HG04115.hp1 HG04199.hp2 NA18940.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18952.hp1 NA18961.hp1 NA18981.hp2 NA18999.hp1 NA19005.hp2 NA19009.hp2 NA19030.hp1 NA19057.hp2 NA19067.hp2 NA19084.hp1 NA19240.hp2 NA20300.hp2	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0007 a0008 a0012 a0014	a0001c0001 a0001c0006 a0003c0002 others(6): Show a0001c0001 a0001c0006 a0003c0002 a0005c0009 a0005c0013 a0007c0011 a0008c0014 a0012c0018 a0014c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0006t0001 a0001c0006t0003 a0003c0002t0001 a0003c0002t0002 a0005c0009t0003 a0005c0009t0015 a0005c0013t0003 a0005c0013t0017 a0007c0011t0003 a0008c0014t0002 a0012c0018t0003 a0014c0024t0001	a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 others(39): Show a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0002g0178 a0001c0001t0002g0274 a0001c0001t0003g0023 a0001c0001t0003g0164 a0001c0006t0001g0011 a0001c0006t0001g0019 a0001c0006t0003g0012 a0003c0002t0001g0080 a0003c0002t0002g0058 a0003c0002t0002g0059 a0003c0002t0002g0094 a0003c0002t0002g0119 a0003c0002t0002g0140 a0003c0002t0002g0173 a0003c0002t0002g0174 a0003c0002t0002g0181 a0003c0002t0002g0219 a0003c0002t0002g0221 a0003c0002t0002g0222 a0003c0002t0002g0227 a0003c0002t0002g0228 a0003c0002t0002g0229 a0003c0002t0002g0231 a0003c0002t0002g0232 a0003c0002t0002g0233 a0003c0002t0002g0256 a0005c0009t0003g0016 a0005c0009t0003g0073 a0005c0009t0015g0296 a0005c0013t0003g0195 a0005c0013t0003g0266 a0005c0013t0017g0298 a0007c0011t0003g0088 a0007c0011t0003g0089 a0007c0011t0003g0091 a0008c0014t0002g0215 a0008c0014t0002g0244 a0012c0018t0003g0014 a0014c0024t0001g0081	42	304	0.1382	-17	c.187 others(34): Show c.1876-592_1876-576delTTTTTTTTTTTTTTTTT	VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	10/13			chr3	TogoVar
VEZT_chr12_95212807_95307799	95305196	GCAGTAGC others(10): Show GCAGTAGCCCTTCTCCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	426	0.0024	-17	c.45 others(28): Show c.4524_*4540delCAGTAGCCCTTCTCCAC	VEZT	ENSG00000028203.19	transcript	ENST00000436874.6	protein_coding		2398		chr12	TogoVar
VGLL1_chrX_136527215_136561799	136532644	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	259	0.0039	-17	c.-26 others(32): Show c.-26+349_-26+365delCTTTCTTTCTTTCTTTC	VGLL1	ENSG00000102243.13	transcript	ENST00000370634.8	protein_coding	1/4			chrX	TogoVar
VGLL1_chrX_136527215_136561799	136532645	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	259	0.0039	-17	c.-26 others(32): Show c.-26+353_-26+369delCTTTCTTTCTTTCTTTT	VGLL1	ENSG00000102243.13	transcript	ENST00000370634.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
VIPR1_chr3_42497643_42542568	42522097	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0171 a0001c0002t0034g0171	1	412	0.0024	-17	c.292 others(34): Show c.292+2769_292+2785delATATTTTTTTTTTTTTT	VIPR1	ENSG00000114812.13	transcript	ENST00000325123.5	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
VIPR1_chr3_42497643_42542568	42522099	ATATTTTT others(10): Show ATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02451.hp2 HG02523.hp1 others(7): Show HG01346.hp2 HG02451.hp2 HG02523.hp1 HG02895.hp1 HG02896.hp2 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03516.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0008t0002 a0001c0008t0006	a0001c0001t0001g0170 a0001c0001t0002g0174 a0001c0001t0003g0131 others(7): Show a0001c0001t0001g0170 a0001c0001t0002g0174 a0001c0001t0003g0131 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0006g0091 a0001c0001t0014g0175 a0001c0008t0002g0018 a0001c0008t0006g0018 a0001c0008t0006g0176	10	412	0.0243	-17	c.292 others(34): Show c.292+2771_292+2787delATTTTTTTTTTTTTTTT	VIPR1	ENSG00000114812.13	transcript	ENST00000325123.5	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
VIRMA_chr8_94482689_94558469	94505530	TGGCATGA others(10): Show TGGCATGATCACTGCAGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG01069.hp1 others(41): Show HG00280.hp2 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02080.hp2 HG02109.hp1 HG02148.hp1 HG02300.hp1 HG02300.hp2 HG02735.hp1 HG02738.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 NA18944.hp2 NA18969.hp1 NA18970.hp1 NA18974.hp1 NA18982.hp2 NA18984.hp2 NA19007.hp2 NA19056.hp1 NA19063.hp1 NA19066.hp2 NA19074.hp2 NA19077.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0019t0007 a0001c0001t0001 a0001c0019t0007	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 others(36): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0307 a0001c0019t0007g0237	44	346	0.1272	-17	c.409 others(34): Show c.4097+953_4097+969delGCTGCAGTGATCATGCC	VIRMA	ENSG00000164944.12	transcript	ENST00000297591.10	protein_coding	16/23			chr8	TogoVar
VIT_chr2_36691707_36819794	36703913	TTTTTTGT others(10): Show TTTTTTGTTTGTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp2 HG01106.hp2 others(29): Show HG00621.hp1 HG00639.hp2 HG01106.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02132.hp1 HG02486.hp2 HG02630.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03669.hp1 HG04204.hp1 HG06807.hp2 NA18747.hp1 NA18947.hp2 NA18972.hp2 NA18990.hp2 NA19006.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0009 others(2): Show a0001c0001 a0001c0004 a0001c0009 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0009t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0007	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0064 others(29): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0324 a0001c0001t0002g0271 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0004t0001g0006 a0001c0009t0001g0096 a0002c0002t0001g0055 a0002c0002t0001g0060 a0002c0002t0001g0070 a0002c0002t0001g0212 a0003c0003t0001g0215 a0003c0003t0002g0270 a0003c0003t0007g0213	32	328	0.0976	-17	c.-19 others(34): Show c.-19+6950_-19+6966delGTTTTTTGTTTTTGTTT	VIT	ENSG00000205221.13	transcript	ENST00000379242.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
VIT_chr2_36691707_36819794	36795362	TTTATTTA others(10): Show TTTATTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	328	0.0031	-17	c.105 others(36): Show c.1059-5936_1059-5920delATTTATTTTATTTTATT	VIT	ENSG00000205221.13	transcript	ENST00000379242.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
VKORC1L1_chr7_65868074_65964558	65895479	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19057.hp2 NA19081.hp2 NA18993.hp2 NA19057.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0044 a0001c0001t0005 a0001c0001t0044	a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0044g0318 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0044g0318	3	350	0.0086	-17	c.194 others(36): Show c.194+21916_194+21932delATATATATATATATATA	VKORC1L1	ENSG00000196715.7	transcript	ENST00000360768.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
VNN2_chr6_132738870_132762904	132758019	TTCTTCTT others(10): Show TTCTTCTTCTTCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01192.hp2 HG01255.hp2 others(65): Show HG00609.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01346.hp1 HG01358.hp2 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp1 HG02280.hp2 HG02293.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03927.hp1 HG04115.hp1 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA18943.hp1 NA18946.hp1 NA18954.hp1 NA18957.hp2 NA18960.hp1 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18986.hp1 NA18989.hp1 NA18994.hp1 NA19004.hp2 NA19006.hp1 NA19010.hp1 NA19030.hp2 NA19054.hp1 NA19057.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19075.hp2 NA19078.hp2 NA19080.hp1 NA19086.hp1 NA19089.hp1 NA19091.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0007 a0011	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0003c0008 a0005c0010 a0007c0014 a0011c0019	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0005t0001 a0003c0008t0001 a0005c0010t0001 a0007c0014t0001 a0011c0019t0001	a0001c0001t0001g0173 a0001c0002t0001g0003 a0001c0002t0001g0005 others(34): Show a0001c0001t0001g0173 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0020 a0001c0002t0001g0031 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0130 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0002t0001g0146 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0167 a0001c0002t0003g0151 a0001c0005t0001g0047 a0001c0005t0001g0128 a0001c0005t0001g0129 a0001c0005t0001g0158 a0003c0008t0001g0131 a0003c0008t0001g0132 a0005c0010t0001g0068 a0007c0014t0001g0127 a0011c0019t0001g0176	68	436	0.1560	-17	c.-15 others(26): Show c.-153_-137delGAAGAAGAAGAAGAAGA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding		116		chr6	TogoVar
VNN2_chr6_132738870_132762904	132758022	TTCTTCTT others(10): Show TTCTTCTTCTTCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02559.hp2 HG03704.hp2 HG01123.hp1 HG02559.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0058 a0001c0002t0001g0010 a0001c0001t0002g0058 a0001c0002t0001g0010	3	436	0.0069	-17	c.-15 others(26): Show c.-156_-140delGAAGAAGAAGAAGAAGA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding		119		chr6	TogoVar
VOPP1_chr7_55465613_55577502	55532679	GCAATCTG others(10): Show GCAATCTGAGGGAGGCTC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	318	0.0031	-17	c.55- others(34): Show c.55-11566_55-11550delGAGCCTCCCTCAGATTG	VOPP1	ENSG00000154978.13	transcript	ENST00000285279.10	protein_coding	1/4			chr7	TogoVar
VPS13A_chr9_77172534_77426537	77399167	TAAAAAAA others(10): Show TAAAAAAAAAAAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0251 a0001c0001t0016g0251	1	348	0.0029	-17	c.919 others(36): Show c.9190-4055_9190-4039delTAAAAAAAAAAAAAAAA	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	68/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13B_chr8_99008274_99882580	99128386	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0090 a0001c0001t0011g0090	1	134	0.0075	-17	c.120 others(36): Show c.1207-6221_1207-6205delAAAAAAAAAAAAAAAAA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	8/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99354266	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02965.hp2 others(3): Show HG01884.hp2 HG02145.hp2 HG02965.hp2 HG03041.hp2 HG03453.hp2 NA20129.hp1	a0003 a0021 a0003 a0021	a0003c0004 a0003c0007 a0021c0034 a0003c0004 a0003c0007 a0021c0034	a0003c0004t0001 a0003c0007t0005 a0021c0034t0001 a0003c0004t0001 a0003c0007t0005 a0021c0034t0001	a0003c0004t0001g0049 a0003c0004t0001g0050 a0003c0004t0001g0087 others(3): Show a0003c0004t0001g0049 a0003c0004t0001g0050 a0003c0004t0001g0087 a0003c0004t0001g0111 a0003c0007t0005g0063 a0021c0034t0001g0106	6	134	0.0448	-17	c.282 others(38): Show c.2825-29919_2825-29903delTTTTTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99360206	CTCTCTTT others(10): Show CTCTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0080 a0001c0020t0002g0080	1	134	0.0075	-17	c.282 others(38): Show c.2825-24000_2825-23984delCTCTTTCTTTCTTTCTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99540046	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03834.hp1 NA18984.hp1 HG02040.hp2 HG03834.hp1 NA18984.hp1	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0002c0003 a0017c0013 a0001c0001 a0002c0003 a0017c0013	a0001c0001t0002 a0002c0003t0003 a0017c0013t0001 a0001c0001t0002 a0002c0003t0003 a0017c0013t0001	a0001c0001t0002g0053 a0002c0003t0003g0078 a0017c0013t0001g0089 a0001c0001t0002g0053 a0002c0003t0003g0078 a0017c0013t0001g0089	3	134	0.0224	-17	c.474 others(38): Show c.4746-16403_4746-16387delATATATATATATATATA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	30/61			chr8	TogoVar
VPS13B_chr8_99008274_99882580	99540047	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18991.hp2 NA19065.hp1 HG01981.hp1 NA18991.hp2 NA19065.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0002c0003 a0008c0029 a0001c0002 a0002c0003 a0008c0029	a0001c0002t0001 a0002c0003t0003 a0008c0029t0003 a0001c0002t0001 a0002c0003t0003 a0008c0029t0003	a0001c0002t0001g0083 a0002c0003t0003g0084 a0008c0029t0003g0086 a0001c0002t0001g0083 a0002c0003t0003g0084 a0008c0029t0003g0086	3	134	0.0224	-17	c.474 others(38): Show c.4746-16401_4746-16385delATATATATATATATATT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	30/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99540049	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01256.hp1 HG02165.hp2 HG00423.hp2 HG01256.hp1 HG02165.hp2	a0001 a0013 a0015 a0001 a0013 a0015	a0001c0001 a0013c0014 a0015c0019 a0001c0001 a0013c0014 a0015c0019	a0001c0001t0002 a0013c0014t0002 a0015c0019t0002 a0001c0001t0002 a0013c0014t0002 a0015c0019t0002	a0001c0001t0002g0055 a0013c0014t0002g0093 a0015c0019t0002g0059 a0001c0001t0002g0055 a0013c0014t0002g0093 a0015c0019t0002g0059	3	134	0.0224	-17	c.474 others(38): Show c.4746-16399_4746-16383delATATATATATATATTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	30/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99640046	GAAGAGAA others(10): Show GAAGAGAAAAGAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0003 a0010 a0003 a0010	a0003c0033 a0010c0032 a0003c0033 a0010c0032	a0003c0033t0006 a0010c0032t0006 a0003c0033t0006 a0010c0032t0006	a0003c0033t0006g0134 a0010c0032t0006g0133 a0003c0033t0006g0134 a0010c0032t0006g0133	2	134	0.0149	-17	c.522 others(36): Show c.5221-1760_5221-1744delGAAAAGAAAAGAAAAGA	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99854634	GCAGGCAC others(10): Show GCAGGCACAGAGCCCTTT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01106.hp1 HG01243.hp1 others(12): Show HG00738.hp1 HG01106.hp1 HG01243.hp1 HG01884.hp1 HG01981.hp2 HG02451.hp1 HG02895.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp2 HG03834.hp2 NA18522.hp2 NA19066.hp1 NA19078.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0009 a0012	a0001c0001 a0001c0008 a0001c0010 others(6): Show a0001c0001 a0001c0008 a0001c0010 a0003c0005 a0003c0006 a0003c0007 a0005c0023 a0009c0024 a0012c0025	a0001c0001t0004 a0001c0008t0005 a0001c0010t0005 others(6): Show a0001c0001t0004 a0001c0008t0005 a0001c0010t0005 a0003c0005t0004 a0003c0006t0004 a0003c0007t0005 a0005c0023t0005 a0009c0024t0005 a0012c0025t0010	a0001c0001t0004g0101 a0001c0001t0004g0118 a0001c0008t0005g0104 others(12): Show a0001c0001t0004g0101 a0001c0001t0004g0118 a0001c0008t0005g0104 a0001c0008t0005g0125 a0001c0010t0005g0051 a0003c0005t0004g0130 a0003c0005t0004g0132 a0003c0006t0004g0110 a0003c0006t0004g0126 a0003c0006t0004g0128 a0003c0007t0005g0052 a0003c0007t0005g0063 a0005c0023t0005g0105 a0009c0024t0005g0124 a0012c0025t0010g0109	15	134	0.1119	-17	c.108 others(36): Show c.10867+380_10867+396delAGGCACAGAGCCCTTTC	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	56/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13C_chr15_61847389_62065447	61862157	TAAAGGAA others(10): Show TAAAGGAAAAGGAAAAGG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp1 HG02976.hp2 others(1): Show HG02258.hp2 HG02723.hp1 HG02976.hp2 NA20300.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0014 a0010c0011t0028 a0010c0011t0014 a0010c0011t0028	a0010c0011t0014g0187 a0010c0011t0014g0188 a0010c0011t0014g0189 others(1): Show a0010c0011t0014g0187 a0010c0011t0014g0188 a0010c0011t0014g0189 a0010c0011t0028g0344	4	352	0.0114	-17	c.109 others(38): Show c.10952+1266_10952+1282delCCTTTTCCTTTTCCTTT	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	82/84			chr15	TogoVar
VPS13C_chr15_61847389_62065447	61902607	TTCAACAG others(10): Show TTCAACAGATGCTAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0004 a0004	a0004c0030 a0004c0030	a0004c0030t0001 a0004c0030t0001	a0004c0030t0001g0043 a0004c0030t0001g0043	1	352	0.0028	-17	c.910 others(36): Show c.9105+4640_9105+4656delTTTTTAGCATCTGTTGA	VPS13C	ENSG00000129003.19	transcript	ENST00000644861.2	protein_coding	66/84			chr15	TogoVar
VPS26A_chr10_69119178_69179412	69149727	GTTTTTTG others(10): Show GTTTTTTGTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(105): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00735.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01943.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02165.hp2 HG02258.hp2 HG02559.hp2 HG02647.hp1 HG02735.hp2 HG02738.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03492.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18959.hp2 NA18960.hp1 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18994.hp1 NA19004.hp2 NA19006.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19091.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018 a0001c0001t0026 a0001c0001t0028	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 others(89): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0257 a0001c0001t0001g0278 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0218 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0243 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0268 a0001c0001t0012g0001 a0001c0001t0012g0002 a0001c0001t0018g0208 a0001c0001t0018g0237 a0001c0001t0026g0267 a0001c0001t0028g0007	108	336	0.3214	-17	c.154 others(34): Show c.154-6078_154-6062delGTTTTTTTTTTTTTTTT	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
VPS26C_chr21_37218422_37272334	37257928	TGCAGCGC others(10): Show TGCAGCGCCCACCAGCCG	T T	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	396	0.0025	-17	c.57+ others(32): Show c.57+9293_57+9309delCGGCTGGTGGGCGCTGC	VPS26C	ENSG00000157538.14	transcript	ENST00000309117.11	protein_coding	1/7			chr21	TogoVar
VPS33A_chr12_122224564_122271494	122226363	AGGGAGGC others(10): Show AGGGAGGCGGGGCCGGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01123.hp2 HG01243.hp1 others(26): Show HG00735.hp2 HG01123.hp2 HG01243.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG02258.hp2 HG02451.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG03017.hp2 HG03098.hp1 HG03453.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18940.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0001 a0001c0005t0007 a0003c0008t0004	a0001c0001t0001g0022 a0001c0001t0001g0091 a0001c0001t0001g0100 others(23): Show a0001c0001t0001g0022 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0237 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0002g0014 a0001c0001t0004g0005 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0267 a0001c0001t0004g0285 a0001c0004t0001g0043 a0001c0005t0007g0245 a0001c0005t0007g0268 a0001c0005t0007g0269 a0001c0005t0007g0297 a0003c0008t0004g0244	29	346	0.0838	-17	c.58 others(28): Show c.5866_*5882delGCCCGGCCCCGCCTCCC	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding		3200		chr12	TogoVar
VPS33B_chr15_90993673_91027594	91017368	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0257 a0001c0001t0008g0257	1	374	0.0027	-17	c.178 others(32): Show c.178-361_178-345delATATATATATATATATA	VPS33B	ENSG00000184056.15	transcript	ENST00000333371.8	protein_coding	2/22			chr15	TogoVar
VPS35L_chr16_19550703_19706163	19570873	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	284	0.0035	-17	c.285 others(34): Show c.285+1284_285+1300delATATATATATATATATT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS37B_chr12_122860330_122901124	122874947	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(158): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18966.hp1 NA18974.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp2 NA18995.hp2 NA18997.hp2 NA19003.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19082.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(116): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0002g0019 a0001c0001t0002g0042 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0005g0086 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0007g0067 a0001c0001t0008g0075 a0001c0001t0010g0121 a0001c0001t0011g0111 a0001c0001t0012g0133 a0001c0001t0013g0150 a0001c0001t0016g0070 a0001c0001t0018g0068 a0001c0001t0019g0151	161	266	0.6053	-17	c.112 others(34): Show c.112-3903_112-3887delTTTTTTTTTTTTTTTTT	VPS37B	ENSG00000139722.7	transcript	ENST00000267202.7	protein_coding	1/3			chr12	TogoVar
VPS41_chr7_38717974_38914191	38720487	TATATATA others(10): Show TATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02818.hp2 NA18969.hp2 others(1): Show HG01192.hp2 HG02818.hp2 NA18969.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0002 a0001c0002t0022 others(1): Show a0001c0001t0008 a0001c0002t0002 a0001c0002t0022 a0001c0002t0034	a0001c0001t0008g0247 a0001c0002t0002g0159 a0001c0002t0022g0034 others(1): Show a0001c0001t0008g0247 a0001c0002t0002g0159 a0001c0002t0022g0034 a0001c0002t0034g0160	4	278	0.0144	-17	c.57 others(28): Show c.5742_*5758delTATATATATATATATAT	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding		2486		chr7	TogoVar
VPS41_chr7_38717974_38914191	38758917	CACCCAAA others(10): Show CACCCAAAGAGGACCTGG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02965.hp2 others(1): Show HG01884.hp2 HG02258.hp1 HG02965.hp2 HG02970.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0005c0015 a0001c0003 a0005c0015	a0001c0003t0001 a0001c0003t0009 a0005c0015t0001 a0001c0003t0001 a0001c0003t0009 a0005c0015t0001	a0001c0003t0001g0068 a0001c0003t0001g0118 a0001c0003t0009g0066 others(1): Show a0001c0003t0001g0068 a0001c0003t0001g0118 a0001c0003t0009g0066 a0005c0015t0001g0067	4	278	0.0144	-17	c.142 others(34): Show c.1423-453_1423-437delCCAGGTCCTCTTTGGGT	VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding	17/28			chr7	TogoVar
VPS4A_chr16_69306350_69331939	69310070	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	366	0.0027	-17	c.-14 others(28): Show c.-1441_-1425delTTTTTTTTTTTTTTTTT	VPS4A	ENSG00000132612.16	transcript	ENST00000254950.13	protein_coding		1279		chr16	TogoVar
VPS52_chr6_33245278_33276876	33255794	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0236 a0001c0005t0003g0236	1	325	0.0031	-17	c.179 others(36): Show c.1795-3840_1795-3824delTTTTTTTTTTTTTTTTT	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS52_chr6_33245278_33276876	33256463	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA20905.hp2 NA19030.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0145 a0001c0001t0002g0052 a0001c0001t0001g0145 a0001c0001t0002g0052	2	325	0.0062	-17	c.179 others(36): Show c.1795-4509_1795-4493delTTTTTTTTTTTTTTTTT	VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19			chr6	TogoVar
VPS53_chr17_503668_719839	571529	TACGGTCT others(10): Show TACGGTCTCCCTCTCCCC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0145 a0001c0001t0095g0145	1	232	0.0043	-17	c.131 others(36): Show c.1314-8801_1314-8785delGGGGAGAGGGAGACCGT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	13/21			chr17	TogoVar
VPS53_chr17_503668_719839	633173	CGCCCCGC others(10): Show CGCCCCGCAATGGATCAG	C C	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0006 a0001c0005t0019g0006	1	232	0.0043	-17	c.609 others(34): Show c.609-1562_609-1546delCTGATCCATTGCGGGGC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
VRK3_chr19_49971468_50030372	50019674	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02109.hp1 NA19240.hp1 HG01070.hp1 HG02109.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0002g0192 a0001c0001t0002g0265 a0001c0006t0001g0140 a0001c0001t0002g0192 a0001c0001t0002g0265 a0001c0006t0001g0140	3	350	0.0086	-17	c.-2+ others(30): Show c.-2+894_-2+910delAAAAAAAAAAAAAAAAA	VRK3	ENSG00000105053.11	transcript	ENST00000316763.8	protein_coding	2/14			chr19	TogoVar
VSIG4_chrX_66016738_66045080	66036904	ATATATTA others(10): Show ATATATTATATGATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG01168.hp1 others(40): Show HG00733.hp2 HG00735.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02622.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03492.hp1 HG03516.hp1 HG03834.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA20300.hp2 NA20905.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0004 a0003c0005 others(1): Show a0001c0001 a0001c0004 a0003c0005 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0003c0005t0001 a0007c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0031 others(35): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0004t0001g0010 a0003c0005t0001g0053 a0003c0005t0001g0054 a0007c0007t0001g0063	43	218	0.1973	-17	c.55+ others(32): Show c.55+3023_55+3039delATATATCATATAATATA	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
VSNL1_chr2_17535696_17662018	17592636	CTCTCTTT others(10): Show CTCTCTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0136 a0001c0001t0010g0136	1	232	0.0043	-17	c.162 others(32): Show c.162+402_162+418delCTCTTTTTTTTTTTTTT	VSNL1	ENSG00000163032.12	transcript	ENST00000295156.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
VSNL1_chr2_17535696_17662018	17592640	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0205 a0001c0001t0019g0205	1	232	0.0043	-17	c.162 others(32): Show c.162+427_162+443delTTTTTTTTTTTTTTTTT	VSNL1	ENSG00000163032.12	transcript	ENST00000295156.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
VTI1B_chr14_67642085_67679632	67643852	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0114 a0001c0001t0007g0114	1	446	0.0022	-17	c.75 others(28): Show c.7516_*7532delTTTTTTTTTTTTTTTTT	VTI1B	ENSG00000100568.11	transcript	ENST00000554659.6	protein_coding		3232		chr14	TogoVar
VWA1_chr1_1430690_1447882	1443673	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	280	0.0036	-17	c.38 others(28): Show c.3887_*3903delTTTTTTTTTTTTTTTTT	VWA1	ENSG00000179403.12	transcript	ENST00000476993.2	protein_coding		792		chr1	TogoVar

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Search Results (Total: 9132 hits)