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
UST_chr6_148742030_149081990	148871117	C C	CTCTCTCT others(24): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	210	0.0048	31	c.248 others(50): Show c.248-15869_248-15868insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	1/7			chr6	TogoVar
UTP11_chr1_38007734_38029820	38012048	G G	GTTTTTTT others(24): Show GTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 NA19001.hp1 HG04184.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0003 a0001c0001t0001g0043	2	368	0.0054	31	c.-75 others(40): Show c.-755_-754insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT	UTP11	ENSG00000183520.12	transcript	ENST00000373014.5	protein_coding		685		chr1	TogoVar
UTP11_chr1_38007734_38029820	38012048	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18978.hp1 NA18964.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	368	0.0054	31	c.-75 others(40): Show c.-755_-754insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UTP11	ENSG00000183520.12	transcript	ENST00000373014.5	protein_coding		685		chr1	TogoVar
UTP20_chr12_101275105_101391618	101310595	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01433.hp2 HG03491.hp1 HG01361.hp1 HG01433.hp2 HG03491.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0009 a0002c0005t0005 a0002c0005t0009	a0002c0005t0005g0005 a0002c0005t0005g0113 a0002c0005t0009g0111 a0002c0005t0005g0005 a0002c0005t0005g0113 a0002c0005t0009g0111	3	356	0.0084	31	c.223 others(48): Show c.2231+759_2231+760insAAAAAAAAAAAAAAAAAAAAAAAAAAAG AAA	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTRN_chr6_144280335_144858034	144690074	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0108 a0003c0004t0003g0108	1	128	0.0078	31	c.765 others(50): Show c.7653-9991_7653-9990insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
VAT1L_chr16_77783564_77985107	77805865	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG03453.hp2 HG04204.hp1 HG01928.hp2 HG03453.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0004 a0001c0003t0042 a0001c0001t0001 a0001c0002t0004 a0001c0003t0042	a0001c0001t0001g0069 a0001c0002t0004g0092 a0001c0003t0042g0266 a0001c0001t0001g0069 a0001c0002t0004g0092 a0001c0003t0042g0266	3	342	0.0088	31	c.234 others(50): Show c.234-11041_234-11040insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	VAT1L	ENSG00000171724.3	transcript	ENST00000302536.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
VAV2_chr9_133756894_133997324	133772055	A A	ACACACGG others(24): Show ACACACGGCCCCGGCGGTCACTGCGTGAGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00639.hp2 others(57): Show HG00099.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01433.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG02055.hp1 HG02129.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp2 NA18906.hp1 NA19030.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0006 others(12): Show a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0015 a0001c0016 a0001c0021 a0001c0023 a0001c0028 a0001c0030 a0002c0001 a0002c0005 a0002c0011	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(25): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0002t0012 a0001c0002t0017 a0001c0002t0034 a0001c0004t0001 a0001c0004t0002 a0001c0004t0014 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0008t0025 a0001c0009t0023 a0001c0010t0005 a0001c0015t0002 a0001c0016t0002 a0001c0021t0024 a0001c0023t0019 a0001c0028t0005 a0001c0030t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0010 a0002c0005t0001 a0002c0005t0002 a0002c0011t0012	a0001c0002t0001g0038 a0001c0002t0001g0046 a0001c0002t0001g0070 others(57): Show a0001c0002t0001g0038 a0001c0002t0001g0046 a0001c0002t0001g0070 a0001c0002t0001g0103 a0001c0002t0001g0118 a0001c0002t0001g0127 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0028 a0001c0002t0002g0091 a0001c0002t0002g0173 a0001c0002t0003g0059 a0001c0002t0003g0181 a0001c0002t0003g0194 a0001c0002t0010g0186 a0001c0002t0012g0026 a0001c0002t0017g0018 a0001c0002t0017g0044 a0001c0002t0034g0117 a0001c0004t0001g0131 a0001c0004t0001g0149 a0001c0004t0001g0189 a0001c0004t0002g0023 a0001c0004t0002g0029 a0001c0004t0002g0061 a0001c0004t0002g0128 a0001c0004t0002g0184 a0001c0004t0002g0190 a0001c0004t0002g0196 a0001c0004t0002g0197 a0001c0004t0014g0125 a0001c0004t0014g0126 a0001c0006t0002g0056 a0001c0008t0001g0011 a0001c0008t0002g0040 a0001c0008t0002g0041 a0001c0008t0002g0174 a0001c0008t0025g0170 a0001c0009t0023g0171 a0001c0010t0005g0053 a0001c0010t0005g0137 a0001c0010t0005g0167 a0001c0015t0002g0122 a0001c0016t0002g0020 a0001c0021t0024g0021 a0001c0023t0019g0138 a0001c0028t0005g0024 a0001c0030t0001g0014 a0002c0001t0002g0006 a0002c0001t0002g0060 a0002c0001t0002g0074 a0002c0001t0002g0114 a0002c0001t0002g0115 a0002c0001t0004g0083 a0002c0001t0004g0084 a0002c0001t0010g0031 a0002c0005t0001g0045 a0002c0005t0002g0116 a0002c0011t0012g0003	60	200	0.3000	31	c.213 others(45): Show c.2136-10_2136-9insGCCCTCACGCAGTGACCGCCGGGGCCGTGTG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	25/29			chr9	TogoVar
VCAN_chr5_83466744_83587302	83489123	G G	GTATATCT others(24): Show GTATATCTTGTTGATATACATTTTGTTGAAAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18943.hp2 NA18959.hp2 others(7): Show NA18941.hp1 NA18943.hp2 NA18959.hp2 NA18974.hp2 NA18986.hp2 NA18995.hp1 NA18999.hp1 NA19055.hp2 NA19072.hp1 NA19077.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0023 a0002c0019 a0002c0053 others(1): Show a0001c0023 a0002c0019 a0002c0053 a0005c0018	a0001c0023t0001 a0002c0019t0002 a0002c0053t0002 others(2): Show a0001c0023t0001 a0002c0019t0002 a0002c0053t0002 a0005c0018t0002 a0005c0018t0006	a0001c0023t0001g0086 a0002c0019t0002g0002 a0002c0019t0002g0084 others(5): Show a0001c0023t0001g0086 a0002c0019t0002g0002 a0002c0019t0002g0084 a0002c0053t0002g0081 a0005c0018t0002g0085 a0005c0018t0006g0080 a0005c0018t0006g0082 a0005c0018t0006g0083	10	350	0.0286	31	c.71- others(44): Show c.71-975_71-974insTATATCTTGTTGATATACATTTTGTTGAAAT	VCAN	ENSG00000038427.16	transcript	ENST00000265077.8	protein_coding	2/14			chr5	TogoVar
VCX2_chrX_8164944_8176267	8169390	A A	ACACCTCT others(24): Show ACACCTCTTCCTCCTCCCTCCCTCCCCCACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0004	1	115	0.0087	31	c.64 others(40): Show c.641_*642insGTGTGGGGGAGGGAGGGAGGAGGAAGAGGTG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		553		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466909	A A	AGGGAGGG others(24): Show AGGGAGGGGGAGGGGGGAAGAGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	271	0.0037	31	c.52 others(40): Show c.526_*527insGGGAGGGGGAGGGGGGAAGAGGTGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		400		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467046	A A	AGGGAGGG others(24): Show AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02922.hp1 HG03491.hp1 others(1): Show HG02451.hp2 HG02922.hp1 HG03491.hp1 NA19240.hp1	a0003 a0018 a0003 a0018	a0003c0003 a0018c0018 a0003c0003 a0018c0018	a0003c0003t0003 a0018c0018t0014 a0003c0003t0003 a0018c0018t0014	a0003c0003t0003g0004 a0018c0018t0014g0005 a0003c0003t0003g0004 a0018c0018t0014g0005	4	271	0.0148	31	c.66 others(40): Show c.663_*664insGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		537		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467242	G G	GGGGGAGG others(24): Show GGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0074 a0074	a0074c0091 a0074c0091	a0074c0091t0010 a0074c0091t0010	a0074c0091t0010g0012 a0074c0091t0010g0012	1	271	0.0037	31	c.85 others(40): Show c.859_*860insGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		733		chrX	TogoVar
VEGFC_chr4_176678538_176797922	176740516	T T	TAGAGAGT others(24): Show TAGAGAGTATATATAATATATATTCTATATAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0215 a0001c0001t0003g0215	1	224	0.0045	31	c.148 others(50): Show c.148-10771_148-10770insCTATATAGAATATATATTATATATAC TCTCT	VEGFC	ENSG00000150630.4	transcript	ENST00000618562.2	protein_coding	1/6			chr4	TogoVar
VGLL2_chr6_117260558_117278565	117273683	T T	TTAGATAG others(24): Show TTAGATAGATAGATAGATAGATAGATAGATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02895.hp2 others(9): Show HG01256.hp1 HG01258.hp2 HG02895.hp2 HG02897.hp2 HG03453.hp1 NA18947.hp2 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18980.hp2 NA18995.hp2 NA19075.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0006 a0001c0001 a0001c0002 a0005c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0005c0006t0002	a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0002t0001g0032 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0002t0001g0032 a0001c0002t0002g0005 a0001c0002t0002g0027 a0001c0002t0002g0046 a0005c0006t0002g0005	12	432	0.0278	31	c.11 others(42): Show c.1189_*1190insTAGATAGATAGATAGATAGATAGATAGATAG	VGLL2	ENSG00000170162.14	transcript	ENST00000326274.6	protein_coding		119		chr6	TogoVar
VGLL3_chr3_86932973_86996149	86988714	A A	AAAGAAAG others(24): Show AAAGAAAGAAATTTTGAACAAGCCATTTTAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(140): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp2 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18968.hp1 NA18969.hp1 NA18972.hp1 NA18974.hp2 NA18978.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19030.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0034 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0059	a0001c0001t0001g0032 a0001c0001t0001g0050 a0001c0001t0001g0051 others(138): Show a0001c0001t0001g0032 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0303 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0059 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0301 a0001c0001t0003g0107 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0006g0058 a0001c0001t0006g0061 a0001c0001t0006g0062 a0001c0001t0006g0063 a0001c0001t0006g0065 a0001c0001t0006g0186 a0001c0001t0007g0052 a0001c0001t0007g0053 a0001c0001t0007g0054 a0001c0001t0007g0077 a0001c0001t0007g0130 a0001c0001t0007g0154 a0001c0001t0010g0067 a0001c0001t0010g0072 a0001c0001t0010g0073 a0001c0001t0010g0102 a0001c0001t0010g0116 a0001c0001t0015g0093 a0001c0001t0015g0094 a0001c0001t0015g0112 a0001c0001t0016g0156 a0001c0001t0016g0161 a0001c0001t0016g0178 a0001c0001t0018g0098 a0001c0001t0018g0126 a0001c0001t0025g0015 a0001c0001t0026g0068 a0001c0001t0034g0165 a0001c0001t0038g0167 a0001c0001t0039g0060 a0001c0001t0041g0166 a0001c0001t0042g0147 a0001c0001t0043g0109 a0001c0001t0044g0159 a0001c0001t0045g0133 a0001c0001t0059g0359	143	370	0.3865	31	c.126 others(48): Show c.126+1903_126+1904insACTAAAATGGCTTGTTCAAAATTTCTTT CTT	VGLL3	ENSG00000206538.9	transcript	ENST00000398399.7	protein_coding	1/3			chr3	TogoVar
VIPR2_chr7_159023175_159149867	159132746	T T	TTGATTGG others(24): Show TTGATTGGCATACAGACTGATTTCAGACAGAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02165.hp2 HG02738.hp2 others(8): Show HG01243.hp2 HG02165.hp2 HG02738.hp2 HG03654.hp1 HG03834.hp1 NA18942.hp1 NA18970.hp1 NA18972.hp2 NA18985.hp2 NA19060.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0026 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0026 a0001c0001t0030 a0001c0002t0002 a0001c0002t0009	a0001c0001t0001g0161 a0001c0001t0001g0259 a0001c0001t0003g0169 others(8): Show a0001c0001t0001g0161 a0001c0001t0001g0259 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0286 a0001c0001t0026g0172 a0001c0001t0026g0173 a0001c0001t0030g0257 a0001c0002t0002g0256 a0001c0002t0009g0258	11	336	0.0327	31	c.151 others(48): Show c.151+9669_151+9699dupTTCTGTCTGAAATCAGTCTGTATGCCAA TCA	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132762	C C	CTGATTTC others(24): Show CTGATTTCAGACAGAATGATTGGCATACAGAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0041 a0001c0001t0008g0041	1	336	0.0030	31	c.151 others(48): Show c.151+9683_151+9684insATCTGTATGCCAATCATTCTGTCTGAAA TCA	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132769	C C	CAGACAGA others(24): Show CAGACAGAATGATTGGCATACAGATTGATTTG	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18522.hp2 NA18939.hp2 others(2): Show HG02273.hp2 NA18522.hp2 NA18939.hp2 NA18960.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0004t0004 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0004 a0001c0005t0047	a0001c0001t0001g0218 a0001c0002t0002g0210 a0001c0002t0002g0241 others(2): Show a0001c0001t0001g0218 a0001c0002t0002g0210 a0001c0002t0002g0241 a0001c0004t0004g0017 a0001c0005t0047g0327	5	336	0.0149	31	c.151 others(48): Show c.151+9676_151+9677insCAAATCAATCTGTATGCCAATCATTCTG TCT	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132769	C C	CAGACAGA others(24): Show CAGACAGAATGATTGGCATACCGATTGATTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01243.hp1 HG02559.hp2 others(1): Show HG00733.hp1 HG01243.hp1 HG02559.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0004 a0001c0002t0005 a0001c0002t0007 others(1): Show a0001c0001t0004 a0001c0002t0005 a0001c0002t0007 a0001c0010t0023	a0001c0001t0004g0086 a0001c0002t0005g0027 a0001c0002t0007g0087 others(1): Show a0001c0001t0004g0086 a0001c0002t0005g0027 a0001c0002t0007g0087 a0001c0010t0023g0011	4	336	0.0119	31	c.151 others(48): Show c.151+9676_151+9677insAAAATCAATCGGTATGCCAATCATTCTG TCT	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132793	C C	CTGATTTC others(24): Show CTGATTTCAGACAGAATGATTGGCATACAGAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	336	0.0030	31	c.151 others(48): Show c.151+9652_151+9653insATCTGTATGCCAATCATTCTGTCTGAAA TCA	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132821	C C	CGATTGAT others(24): Show CGATTGATTTTAGACAGAATGATTGGCATACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18522.hp1 HG01891.hp1 NA18522.hp1	a0001 a0001	a0001c0012 a0001c0013 a0001c0012 a0001c0013	a0001c0012t0008 a0001c0013t0007 a0001c0012t0008 a0001c0013t0007	a0001c0012t0008g0074 a0001c0013t0007g0073 a0001c0012t0008g0074 a0001c0013t0007g0073	2	336	0.0060	31	c.151 others(48): Show c.151+9624_151+9625insTGTATGCCAATCATTCTGTCTAAAATCA ATC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132824	T T	TTGATTTC others(24): Show TTGATTTCAGACAGAATGATTGGCATACAGAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0012 a0001c0004t0011g0012	1	336	0.0030	31	c.151 others(48): Show c.151+9621_151+9622insGTCTGTATGCCAATCATTCTGTCTGAAA TCA	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132831	G G	GAGACAGA others(24): Show GAGACAGAATGATTGGCATACAGATTGATTTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0070 a0001c0002t0044g0070	1	336	0.0030	31	c.151 others(48): Show c.151+9614_151+9615insGAAATCAATCTGTATGCCAATCATTCTG TCT	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132831	G G	GAGACAGA others(24): Show GAGACAGAATGATTGGCATACCGATTGATTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02257.hp2 HG03486.hp1 HG01934.hp1 HG02257.hp2 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0329 a0001c0005t0019g0330 a0001c0005t0019g0332 a0001c0005t0019g0329 a0001c0005t0019g0330 a0001c0005t0019g0332	3	336	0.0089	31	c.151 others(48): Show c.151+9584_151+9614dupAAAATCAATCGGTATGCCAATCATTCTG TCT	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132852	C C	CGATTGAT others(24): Show CGATTGATTTTAGACAGAATGATTGGCATACA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0311 a0001c0004t0004g0311	1	336	0.0030	31	c.151 others(48): Show c.151+9563_151+9593dupTGTATGCCAATCATTCTGTCTAAAATCA ATC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132883	A A	AGATTGAT others(24): Show AGATTGATTTCAGACAGAATGATTGGCATACC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0183 a0001c0004t0004g0183	1	336	0.0030	31	c.151 others(48): Show c.151+9562_151+9563insGGTATGCCAATCATTCTGTCTGAAATCA ATC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132883	A A	AGATTGAT others(24): Show AGATTGATTTGAGACAGAATGATTGGCATACC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01109.hp2 HG01256.hp1 others(12): Show HG00408.hp2 HG01109.hp2 HG01256.hp1 HG01258.hp2 HG02683.hp2 HG06807.hp2 NA18939.hp2 NA18948.hp1 NA18962.hp1 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18984.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0032 a0001c0002t0002	a0001c0001t0001g0187 a0001c0001t0001g0198 a0001c0001t0001g0217 others(12): Show a0001c0001t0001g0187 a0001c0001t0001g0198 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0003g0324 a0001c0001t0004g0194 a0001c0001t0008g0041 a0001c0001t0010g0131 a0001c0001t0010g0221 a0001c0001t0010g0225 a0001c0001t0010g0226 a0001c0001t0010g0227 a0001c0001t0032g0193 a0001c0002t0002g0224	15	336	0.0446	31	c.151 others(48): Show c.151+9562_151+9563insGGTATGCCAATCATTCTGTCTCAAATCA ATC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132883	A A	AGATTGAT others(24): Show AGATTGATTTTAGACAGAATGATTGGCATACC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0070 a0001c0002t0044g0070	1	336	0.0030	31	c.151 others(48): Show c.151+9562_151+9563insGGTATGCCAATCATTCTGTCTAAAATCA ATC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132893	C C	CAGACAGA others(24): Show CAGACAGAATGATTGGCATACCGATTGATTTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG01891.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0013 a0001c0004 a0001c0013	a0001c0004t0004 a0001c0013t0007 a0001c0004t0004 a0001c0013t0007	a0001c0004t0004g0021 a0001c0013t0007g0073 a0001c0004t0004g0021 a0001c0013t0007g0073	2	336	0.0060	31	c.151 others(48): Show c.151+9552_151+9553insCAAATCAATCGGTATGCCAATCATTCTG TCT	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132893	C C	GAGACAGA others(24): Show GAGACAGAATGATTGGCATACCGATTGATTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18960.hp2 NA18977.hp2 others(1): Show NA18952.hp1 NA18960.hp2 NA18977.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 a0001c0001t0001 a0001c0002t0002 a0001c0002t0007	a0001c0001t0001g0166 a0001c0001t0001g0215 a0001c0002t0002g0210 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0215 a0001c0002t0002g0210 a0001c0002t0007g0216	4	336	0.0119	31	c.151 others(44): Show c.151+9553delGinsAAAATCAATCGGTATGCCAATCATTCTGTCTC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132914	A A	AGATTGAT others(24): Show AGATTGATTTTAGACAGAATGATTGGCATACC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02572.hp2 HG02976.hp2 HG01168.hp2 HG02572.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0028 a0001c0001 a0001c0005 a0001c0028	a0001c0001t0025 a0001c0005t0058 a0001c0028t0057 a0001c0001t0025 a0001c0005t0058 a0001c0028t0057	a0001c0001t0025g0059 a0001c0005t0058g0328 a0001c0028t0057g0331 a0001c0001t0025g0059 a0001c0005t0058g0328 a0001c0028t0057g0331	3	336	0.0089	31	c.151 others(48): Show c.151+9531_151+9532insGGTATGCCAATCATTCTGTCTAAAATCA ATC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132924	C C	CAGACAGA others(24): Show CAGACAGAATGATTGGCATACCGATTGATTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0276 a0001c0001t0025g0276	1	336	0.0030	31	c.151 others(48): Show c.151+9521_151+9522insAAAATCAATCGGTATGCCAATCATTCTG TCT	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132955	C C	CAGACAGA others(24): Show CAGACAGAATGATTGGCATACCGATTGATTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA19091.hp1 HG03491.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0243 a0001c0002t0002g0270 a0001c0002t0002g0243 a0001c0002t0002g0270	2	336	0.0060	31	c.151 others(48): Show c.151+9460_151+9490dupAAAATCAATCGGTATGCCAATCATTCTG TCT	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132976	C C	CGATTGAT others(24): Show CGATTGATTTTAGACAGAATGATTGGCATACA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0274 a0001c0002t0053g0274	1	336	0.0030	31	c.151 others(48): Show c.151+9439_151+9469dupTGTATGCCAATCATTCTGTCTAAAATCA ATC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159132986	T T	TAGACAGA others(24): Show TAGACAGAATGATTGGCATACCGATTGATTTG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0047 a0001c0005t0047	a0001c0005t0047g0327 a0001c0005t0047g0327	1	336	0.0030	31	c.151 others(48): Show c.151+9459_151+9460insCAAATCAATCGGTATGCCAATCATTCTG TCT	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VMAC_chr19_5899872_5915853	5907610	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA19066.hp1 HG01515.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	2	386	0.0052	31	c.192 others(48): Show c.192-1188_192-1187insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	VMAC	ENSG00000187650.4	transcript	ENST00000339485.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
VMP1_chr17_59702654_59847255	59772950	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0258 a0001c0001t0003g0258	1	286	0.0035	31	c.583 others(46): Show c.583-774_583-773insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	VMP1	ENSG00000062716.13	transcript	ENST00000262291.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
VN1R1_chr19_57449790_57462140	57458501	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	430	0.0023	31	c.-20 others(42): Show c.-2016_-2015insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	VN1R1	ENSG00000178201.5	transcript	ENST00000321039.5	protein_coding		1362		chr19	TogoVar
VNN2_chr6_132738870_132762904	132758041	T T	TCTTCTTC others(24): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02965.hp1 NA19240.hp1 HG02109.hp1 HG02965.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086	3	436	0.0069	31	c.-15 others(40): Show c.-159_-158insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding		138		chr6	TogoVar
VPS13A_chr9_77172534_77426537	77377203	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0202 a0001c0001t0025g0202	1	348	0.0029	31	c.907 others(50): Show c.9078-4746_9078-4745insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	67/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS13B_chr8_99008274_99882580	99832341	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0066 a0002c0003t0007g0066	1	134	0.0075	31	c.933 others(44): Show c.9331-3_9331-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	51/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS26A_chr10_69119178_69179412	69119380	A A	ACATATAT others(24): Show ACATATATATATATACATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	336	0.0030	31	c.-48 others(42): Show c.-4898_-4897insCATATATATATATACATATATATATATATAT	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding		4797		chr10	TogoVar
VPS26C_chr21_37218422_37272334	37255851	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	396	0.0025	31	c.57+ others(48): Show c.57+11386_57+11387insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	VPS26C	ENSG00000157538.14	transcript	ENST00000309117.11	protein_coding	1/7			chr21	TogoVar
VPS45_chr1_150062776_150150329	150149899	T T	TGCGGACT others(24): Show TGCGGACTGGGCCGCCCACAGCGCACCGGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0015 a0002c0002t0004g0015	1	176	0.0057	31	c.51 others(42): Show c.5103_*5104insGCGGACTGGGCCGCCCACAGCGCACCGGGCC	VPS45	ENSG00000136631.16	transcript	ENST00000644510.2	protein_coding		4571		chr1	TogoVar
VPS53_chr17_503668_719839	556879	A A	ACTGAAGG others(24): Show ACTGAAGGGGGGTGGCCAGGAGGGCCTCTCTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(62): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01978.hp1 HG01981.hp2 HG02040.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG03225.hp1 HG03491.hp1 HG03492.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18940.hp2 NA18944.hp1 NA18948.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA18990.hp2 NA18994.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0003 a0003c0004 a0004c0008	a0001c0001t0002 a0001c0001t0017 a0001c0001t0033 others(42): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0033 a0001c0001t0034 a0001c0001t0087 a0001c0001t0106 a0001c0001t0111 a0001c0001t0112 a0001c0001t0121 a0001c0001t0123 a0001c0001t0127 a0001c0001t0141 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0013 a0001c0002t0025 a0001c0002t0026 a0001c0002t0043 a0001c0002t0048 a0001c0002t0058 a0001c0002t0067 a0001c0002t0075 a0001c0002t0076 a0001c0002t0082 a0001c0002t0125 a0001c0005t0020 a0001c0006t0021 a0001c0006t0039 a0001c0006t0040 a0001c0006t0068 a0002c0003t0073 a0002c0003t0136 a0003c0004t0003 a0003c0004t0022 a0003c0004t0047 a0003c0004t0054 a0003c0004t0056 a0003c0004t0060 a0003c0004t0064 a0004c0008t0035 a0004c0008t0124 a0004c0008t0142	a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0134 others(62): Show a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0141 a0001c0001t0002g0210 a0001c0001t0017g0158 a0001c0001t0033g0205 a0001c0001t0033g0206 a0001c0001t0034g0162 a0001c0001t0087g0198 a0001c0001t0106g0117 a0001c0001t0111g0164 a0001c0001t0112g0157 a0001c0001t0121g0143 a0001c0001t0123g0123 a0001c0001t0127g0159 a0001c0001t0141g0165 a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0090 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0005g0061 a0001c0002t0007g0058 a0001c0002t0007g0062 a0001c0002t0007g0063 a0001c0002t0007g0081 a0001c0002t0010g0057 a0001c0002t0010g0087 a0001c0002t0013g0078 a0001c0002t0025g0075 a0001c0002t0026g0059 a0001c0002t0026g0060 a0001c0002t0043g0064 a0001c0002t0048g0089 a0001c0002t0058g0052 a0001c0002t0067g0076 a0001c0002t0075g0051 a0001c0002t0076g0050 a0001c0002t0082g0069 a0001c0002t0125g0116 a0001c0005t0020g0005 a0001c0005t0020g0010 a0001c0006t0021g0100 a0001c0006t0021g0101 a0001c0006t0039g0003 a0001c0006t0040g0002 a0001c0006t0068g0098 a0002c0003t0073g0068 a0002c0003t0136g0216 a0003c0004t0003g0015 a0003c0004t0003g0043 a0003c0004t0022g0004 a0003c0004t0047g0017 a0003c0004t0054g0032 a0003c0004t0056g0020 a0003c0004t0060g0039 a0003c0004t0064g0042 a0004c0008t0035g0203 a0004c0008t0124g0229 a0004c0008t0142g0228	65	232	0.2802	31	c.170 others(50): Show c.1705-3448_1705-3418dupCAGAGAGGCCCTCCTGGCCACCCCCC TTCAG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	15/21			chr17	TogoVar
VPS53_chr17_503668_719839	556903	C C	CCTCTCTG others(24): Show CCTCTCTGCTGAAGGGGGGTGGCCAGGAGGGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03139.hp1 HG02572.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0102 a0001c0001t0101 a0001c0001t0102	a0001c0001t0101g0200 a0001c0001t0102g0220 a0001c0001t0101g0200 a0001c0001t0102g0220	2	232	0.0086	31	c.170 others(50): Show c.1705-3472_1705-3442dupCCCCTCCTGGCCACCCCCCTTCAGCA GAGAG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	15/21			chr17	TogoVar
VPS8_chr3_184807166_185057604	184984194	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAACTCACCAAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00544.hp1 others(58): Show HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01109.hp2 HG01192.hp1 HG01358.hp2 HG02071.hp2 HG02135.hp1 HG02145.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp2 HG03486.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18939.hp1 NA18942.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18979.hp2 NA18985.hp2 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA18999.hp2 NA19005.hp1 NA19030.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0010 a0014	a0001c0001 a0001c0010 a0002c0002 others(6): Show a0001c0001 a0001c0010 a0002c0002 a0002c0019 a0003c0009 a0004c0006 a0007c0013 a0010c0043 a0014c0039	a0001c0001t0002 a0001c0010t0002 a0002c0002t0001 others(8): Show a0001c0001t0002 a0001c0010t0002 a0002c0002t0001 a0002c0002t0004 a0002c0019t0001 a0003c0009t0001 a0003c0009t0010 a0004c0006t0003 a0007c0013t0004 a0010c0043t0002 a0014c0039t0001	a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0002g0081 others(58): Show a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0095 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0194 a0001c0001t0002g0267 a0001c0010t0002g0184 a0001c0010t0002g0186 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0103 a0002c0002t0001g0156 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0203 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0216 a0002c0002t0001g0220 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0233 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0252 a0002c0002t0001g0269 a0002c0002t0001g0271 a0002c0002t0004g0093 a0002c0019t0001g0237 a0002c0019t0001g0238 a0003c0009t0001g0073 a0003c0009t0010g0044 a0004c0006t0003g0051 a0004c0006t0003g0053 a0007c0013t0004g0115 a0007c0013t0004g0116 a0010c0043t0002g0193 a0014c0039t0001g0249	61	274	0.2226	31	c.358 others(50): Show c.3585+1100_3585+1101insAAAAAAAAAAAAAAAAAAAAAACTCA CCAAG	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	42/47			chr3	TogoVar
VRTN_chr14_74343471_74365008	74344246	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01517.hp1 HG02155.hp2 others(5): Show HG01255.hp2 HG01517.hp1 HG02155.hp2 HG02735.hp2 HG03239.hp2 HG04184.hp2 NA19065.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0033 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0003t0001g0006 a0001c0004t0001g0059	8	428	0.0187	31	c.-44 others(42): Show c.-4408_-4407insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	VRTN	ENSG00000133980.5	transcript	ENST00000256362.5	protein_coding		4224		chr14	TogoVar
VSIG4_chrX_66016738_66045080	66036790	A A	AATATAAT others(24): Show AATATAATATAATATATATTATATTATATTAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	2	218	0.0092	31	c.56- others(46): Show c.56-2961_56-2960insATAATATAATATAATATATATTATATTATA T	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
VTA1_chr6_142142263_142229685	142181094	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	334	0.0030	31	c.412 others(48): Show c.412-8332_412-8331insTATATATATATATATATATATATATATA TAT	VTA1	ENSG00000009844.16	transcript	ENST00000367630.9	protein_coding	4/7			chr6	TogoVar

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