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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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
VPS18_chr15_40889450_40908975	40905237	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0019 a0001c0005t0002g0019	1	406	0.0025	29	c.18 others(40): Show c.1896_*1897insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	VPS18	ENSG00000104142.11	transcript	ENST00000220509.10	protein_coding		1263		chr15	TogoVar
VPS54_chr2_63887150_64024428	63967718	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	304	0.0033	29	c.492 others(46): Show c.492+1238_492+1239insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	5/22			chr2	TogoVar
VPS8_chr3_184807166_185057604	184842186	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG03710.hp2 NA20805.hp2 HG01928.hp2 HG03710.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0091 a0002c0002t0001g0236 a0002c0002t0001g0244 a0002c0002t0001g0091 a0002c0002t0001g0236 a0002c0002t0001g0244	3	274	0.0110	29	c.536 others(46): Show c.536-1031_536-1030insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184984194	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAACTCACCAAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01884.hp2 HG02257.hp2 others(9): Show HG00735.hp2 HG01884.hp2 HG02257.hp2 HG02615.hp2 HG02818.hp1 HG02896.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp1 NA20300.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0003c0005 a0003c0012 others(3): Show a0001c0001 a0003c0005 a0003c0012 a0003c0016 a0004c0018 a0006c0007	a0001c0001t0002 a0003c0005t0001 a0003c0012t0001 others(3): Show a0001c0001t0002 a0003c0005t0001 a0003c0012t0001 a0003c0016t0001 a0004c0018t0001 a0006c0007t0001	a0001c0001t0002g0157 a0003c0005t0001g0024 a0003c0005t0001g0025 others(9): Show a0001c0001t0002g0157 a0003c0005t0001g0024 a0003c0005t0001g0025 a0003c0005t0001g0026 a0003c0005t0001g0049 a0003c0012t0001g0001 a0003c0012t0001g0003 a0003c0016t0001g0032 a0003c0016t0001g0041 a0004c0018t0001g0059 a0006c0007t0001g0037 a0006c0007t0001g0068	12	274	0.0438	29	c.358 others(48): Show c.3585+1100_3585+1101insAAAAAAAAAAAAAAAAAAAACTCACC AAG	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	42/47			chr3	TogoVar
VPS8_chr3_184807166_185057604	184984194	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAACAAAAAAACTCACCAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0069 a0003c0015t0001g0069	1	274	0.0037	29	c.358 others(48): Show c.3585+1100_3585+1101insAAAAAAAAAAAACAAAAAAACTCACC AAG	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	42/47			chr3	TogoVar
VPS8_chr3_184807166_185057604	185031063	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0049 a0003c0005t0001g0049	1	274	0.0037	29	c.405 others(48): Show c.4056+6702_4056+6703insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK2_chr2_58041806_58164871	58137156	T T	TTATATAT others(22): Show TTATATATATCATATATATCATATATATCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03540.hp2 HG01167.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0165 a0001c0001t0001g0166	2	340	0.0059	29	c.856 others(46): Show c.856+1973_856+1974insATCATATATATCATATATATATCATATA T	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VSIG4_chrX_66016738_66045080	66036874	T T	TATATATT others(22): Show TATATATTATATTATATATTTTATTATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG02647.hp1 HG00738.hp1 HG01081.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0008t0001g0162 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0008t0001g0162	3	218	0.0138	29	c.55+ others(44): Show c.55+3041_56-3045dupTATATAATAAAATATATAATATAATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
VSIG4_chrX_66016738_66045080	66036973	A A	AATATAAT others(22): Show AATATAATATATCATATAATATAATATATC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01109.hp1 others(3): Show HG00642.hp1 HG00735.hp2 HG01109.hp1 HG01346.hp1 HG01433.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0103 a0001c0001t0004g0006 a0001c0001t0004g0011 a0001c0001t0001g0103 a0001c0001t0004g0006 a0001c0001t0004g0011	6	218	0.0275	29	c.55+ others(44): Show c.55+2942_55+2970dupGATATATTATATTATATGATATATTATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
VSIG4_chrX_66016738_66045080	66037272	T T	TATAATAT others(22): Show TATAATATAATATATAATATATATTATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01256.hp1 HG01346.hp2 others(4): Show HG01081.hp2 HG01256.hp1 HG01346.hp2 HG01358.hp1 HG03239.hp1 HG03239.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0143 a0001c0001t0001g0144 others(3): Show a0001c0001t0001g0017 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0157	7	218	0.0321	29	c.55+ others(44): Show c.55+2643_55+2671dupTATATAATATATATTATATATTATATTAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
VSIG4_chrX_66016738_66045080	66037335	T T	TATAATAT others(22): Show TATAATATAATATATAATATATATTATATA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	218	0.0046	29	c.55+ others(44): Show c.55+2580_55+2608dupTATATAATATATATTATATATTATATTAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
VSNL1_chr2_17535696_17662018	17642309	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03540.hp1 NA18522.hp1 HG03209.hp1 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0003g0099 a0001c0001t0004g0113 a0001c0001t0005g0229 a0001c0001t0003g0099 a0001c0001t0004g0113 a0001c0001t0005g0229	3	232	0.0129	29	c.163 others(46): Show c.163-7084_163-7083insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	VSNL1	ENSG00000163032.12	transcript	ENST00000295156.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
VSTM5_chr11_93813232_93855618	93822008	C C	CCTATAGC others(22): Show CCTATAGCTTTAGGTACATTATAGGGAAAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0286 a0001c0001t0044g0286	1	360	0.0028	29	c.92- others(42): Show c.92-686_92-685insATTTCCCTATAATGTACCTAAAGCTATAG	VSTM5	ENSG00000214376.6	transcript	ENST00000409977.2	protein_coding	1/3			chr11	TogoVar
VSTM5_chr11_93813232_93855618	93841011	A A	ACCTGGGG others(22): Show ACCTGGGGTCTGGGGGCAAGGAACCTAAGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02572.hp1 others(13): Show HG01884.hp1 HG02258.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02818.hp2 HG02896.hp2 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03471.hp2 HG03516.hp2 NA18522.hp1 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0015 a0001c0001t0019 others(4): Show a0001c0001t0011 a0001c0001t0015 a0001c0001t0019 a0001c0001t0026 a0001c0001t0033 a0001c0001t0034 a0001c0001t0042	a0001c0001t0011g0009 a0001c0001t0011g0247 a0001c0001t0011g0253 others(9): Show a0001c0001t0011g0009 a0001c0001t0011g0247 a0001c0001t0011g0253 a0001c0001t0011g0254 a0001c0001t0015g0038 a0001c0001t0015g0287 a0001c0001t0015g0288 a0001c0001t0019g0035 a0001c0001t0026g0046 a0001c0001t0033g0245 a0001c0001t0034g0060 a0001c0001t0042g0246	16	360	0.0444	29	c.91+ others(44): Show c.91+9400_91+9401insCCTTAGGTTCCTTGCCCCCAGACCCCAGG	VSTM5	ENSG00000214376.6	transcript	ENST00000409977.2	protein_coding	1/3			chr11	TogoVar
VSX2_chr14_74234449_74267738	74254784	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02886.hp2 HG03579.hp2 HG02683.hp2 HG02886.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0106 a0001c0001t0013g0236 a0001c0001t0013g0237 a0001c0001t0001g0106 a0001c0001t0013g0236 a0001c0001t0013g0237	3	422	0.0071	29	c.580 others(46): Show c.580-4805_580-4804insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
VTA1_chr6_142142263_142229685	142181094	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	334	0.0030	29	c.412 others(46): Show c.412-8331_412-8330insAAAAATATATATATATATATATATATAT A	VTA1	ENSG00000009844.16	transcript	ENST00000367630.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
VWA3B_chr2_98082167_98318299	98089662	C C	CCAGACAA others(22): Show CCAGACAATACAAATATTCCATTTGTATTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02056.hp1 HG02080.hp1 others(4): Show HG00597.hp1 HG02056.hp1 HG02080.hp1 HG02165.hp2 HG03098.hp1 NA18995.hp2 NA19085.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0016 a0017	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0006c0007 a0016c0028 a0017c0027	a0001c0001t0001 a0002c0002t0002 a0002c0002t0008 others(4): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0008 a0003c0003t0003 a0006c0007t0012 a0016c0028t0002 a0017c0027t0002	a0001c0001t0001g0088 a0002c0002t0002g0087 a0002c0002t0008g0086 others(4): Show a0001c0001t0001g0088 a0002c0002t0002g0087 a0002c0002t0008g0086 a0003c0003t0003g0052 a0006c0007t0012g0051 a0016c0028t0002g0085 a0017c0027t0002g0084	7	240	0.0292	29	c.-33 others(46): Show c.-33+2347_-33+2375dupCATTTGTATTTCAGACAATACAAATATT C	VWA3B	ENSG00000168658.20	transcript	ENST00000477737.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
VWA8_chr13_41561835_41966109	41573486	A A	AAAAAAAT others(22): Show AAAAAAATAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	250	0.0040	29	c.537 others(48): Show c.5370+2253_5370+2254insATATATATATATATATATATTTATTT TTT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	43/44			chr13	TogoVar
VWA8_chr13_41561835_41966109	41573486	A A	AAATAAAT others(22): Show AAATAAATAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	250	0.0040	29	c.537 others(48): Show c.5370+2253_5370+2254insATATATATATATATATATATTTATTT ATT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	43/44			chr13	TogoVar
VWA8_chr13_41561835_41966109	41882824	A A	AGGGAGAG others(22): Show AGGGAGAGGGAGAGGGAGAGGGAGACCGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01358.hp2 HG02148.hp1 others(2): Show HG01109.hp2 HG01358.hp2 HG02148.hp1 HG02922.hp2 NA20300.hp1	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0001 a0003c0003 a0014c0023 a0001c0001 a0003c0003 a0014c0023	a0001c0001t0002 a0003c0003t0001 a0014c0023t0001 a0001c0001t0002 a0003c0003t0001 a0014c0023t0001	a0001c0001t0002g0163 a0003c0003t0001g0093 a0003c0003t0001g0096 others(2): Show a0001c0001t0002g0163 a0003c0003t0001g0093 a0003c0003t0001g0096 a0003c0003t0001g0097 a0014c0023t0001g0156	5	250	0.0200	29	c.108 others(46): Show c.1080+562_1080+563insCACGGTCTCCCTCTCCCTCTCCCTCTCC C	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	9/44			chr13	TogoVar
VWC2_chr7_49768638_49926950	49877481	A A	AAAAAAAT others(22): Show AAAAAAATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02258.hp2 HG02723.hp1 others(5): Show HG01099.hp1 HG02258.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03209.hp1 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 others(3): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 a0002c0002t0001 a0002c0002t0061 a0002c0002t0068	a0001c0001t0003g0163 a0001c0001t0003g0184 a0001c0001t0003g0192 others(5): Show a0001c0001t0003g0163 a0001c0001t0003g0184 a0001c0001t0003g0192 a0001c0001t0011g0222 a0001c0001t0014g0168 a0002c0002t0001g0020 a0002c0002t0061g0061 a0002c0002t0068g0227	8	256	0.0313	29	c.827 others(48): Show c.827-34552_827-34551insAAAAATATACATATATATATATATAT ATA	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VWC2_chr7_49768638_49926950	49877481	A A	AAAAATAT others(22): Show AAAAATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	256	0.0039	29	c.827 others(48): Show c.827-34552_827-34551insAAATATACATATATATATATATATAT ATA	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VXN_chr8_66488566_66523524	66489819	T T	TTTTATTT others(22): Show TTTTATTTTATTTTATTTTATTTTATTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	332	0.0030	29	c.-38 others(40): Show c.-3830_-3829insTTTATTTTATTTTATTTTATTTTATTTTA	VXN	ENSG00000169085.14	transcript	ENST00000305454.8	protein_coding		3746		chr8	TogoVar
WAC_chr10_28528118_28628112	28626049	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0271 a0001c0001t0019g0271	1	322	0.0031	29	c.64 others(40): Show c.6443_*6444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	WAC	ENSG00000095787.26	transcript	ENST00000354911.9	protein_coding		2938		chr10	TogoVar
WARS1_chr14_100328790_100380347	100371447	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02486.hp1 HG00738.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0197 a0001c0001t0001g0198	2	338	0.0059	29	c.-73 others(46): Show c.-73-2190_-73-2189insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	WARS1	ENSG00000140105.18	transcript	ENST00000392882.7	protein_coding	1/10			chr14	TogoVar
WASF3_chr13_26552683_26693948	26559788	T T	TTTTCTTT others(22): Show TTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19030.hp1 NA18954.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0004 a0001c0004t0013 a0001c0002t0004 a0001c0004t0013	a0001c0002t0004g0239 a0001c0004t0013g0195 a0001c0002t0004g0239 a0001c0004t0013g0195	2	294	0.0068	29	c.-10 others(48): Show c.-109+1976_-109+1977insTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	WASF3	ENSG00000132970.14	transcript	ENST00000335327.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
WASF3_chr13_26552683_26693948	26578993	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01070.hp2 HG00544.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0240 a0001c0001t0002g0042 a0001c0001t0002g0240	2	294	0.0068	29	c.-10 others(50): Show c.-109+21197_-109+21198insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	WASF3	ENSG00000132970.14	transcript	ENST00000335327.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
WASF3_chr13_26552683_26693948	26675673	T T	TGTGTGTG others(22): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0102 a0001c0002t0006g0102	1	294	0.0034	29	c.541 others(44): Show c.541-876_541-875insGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	WASF3	ENSG00000132970.14	transcript	ENST00000335327.6	protein_coding	6/9			chr13	TogoVar
WDPCP_chr2_63114559_63593477	63572701	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18906.hp1 NA18998.hp1 HG03688.hp2 NA18906.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0068 a0001c0001t0001g0208 a0001c0001t0004g0062 a0001c0001t0001g0068 a0001c0001t0001g0208 a0001c0001t0004g0062	3	216	0.0139	29	c.75+ others(46): Show c.75+15495_75+15496insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTGTATAT others(22): Show GTGTATATATAGTATATACAGTATATACAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA20905.hp1 HG03831.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0128 a0001c0001t0004g0129 a0001c0001t0001g0128 a0001c0001t0004g0129	2	216	0.0093	29	c.75+ others(46): Show c.75+12689_75+12717dupGTGTATATACTGTATATACTATATATAC A	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDR18_chr19_979345_999557	987829	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0098 a0003c0004t0002g0098	1	456	0.0022	29	c.321 others(46): Show c.321+1877_321+1878insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	WDR18	ENSG00000065268.11	transcript	ENST00000585809.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
WDR20_chr14_102134897_102215527	102161142	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	264	0.0038	29	c.249 others(48): Show c.249+20971_249+20972insATATATATATATATATATATATATAT TTT	WDR20	ENSG00000140153.18	transcript	ENST00000342702.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR20_chr14_102134897_102215527	102161142	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	264	0.0038	29	c.249 others(48): Show c.249+20971_249+20972insATATATATATATATATATATATATTT TTT	WDR20	ENSG00000140153.18	transcript	ENST00000342702.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR20_chr14_102134897_102215527	102161142	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19074.hp2 NA19030.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0036 a0001c0002t0001g0003 a0001c0001t0001g0036 a0001c0002t0001g0003	2	264	0.0076	29	c.249 others(48): Show c.249+20971_249+20972insATATATATATATATATATATATTTTT TTT	WDR20	ENSG00000140153.18	transcript	ENST00000342702.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR26_chr1_224380146_224439797	224407151	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0085 a0001c0001t0004g0085	1	252	0.0040	29	c.145 others(48): Show c.1459-2582_1459-2581insATATATATATATATATATATATATTT TTT	WDR26	ENSG00000162923.18	transcript	ENST00000414423.9	protein_coding	7/13		WARNING_TRANSCRIPT_NO_START_CODON	chr1	TogoVar
WDR26_chr1_224380146_224439797	224407151	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0232 a0001c0002t0008g0232	1	252	0.0040	29	c.145 others(48): Show c.1459-2582_1459-2581insATATATATATATATATATATATATAT TTT	WDR26	ENSG00000162923.18	transcript	ENST00000414423.9	protein_coding	7/13		WARNING_TRANSCRIPT_NO_START_CODON	chr1	TogoVar
WDR33_chr2_127696027_127816171	127711781	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	318	0.0031	29	c.330 others(48): Show c.3308+1801_3308+1802insTATATATATATATATATATATATATA TAT	WDR33	ENSG00000136709.12	transcript	ENST00000322313.9	protein_coding	18/21			chr2	TogoVar
WDR37_chr10_1051385_1137372	1069389	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0010 a0001c0001t0024g0010	1	362	0.0028	29	c.-40 others(46): Show c.-40-2726_-40-2725insATATATATATATATATTTTTTTTTTTTT T	WDR37	ENSG00000047056.18	transcript	ENST00000263150.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR38_chr9_124848460_124862878	124852568	G G	GCAGGTGG others(22): Show GCAGGTGGTCCCAGTACAGACACCCAGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02451.hp2 HG02717.hp2 others(5): Show HG02145.hp2 HG02451.hp2 HG02717.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 NA18522.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0009 a0004c0005t0001g0009	8	416	0.0192	29	c.-96 others(38): Show c.-964_-963insCAGGTGGTCCCAGTACAGACACCCAGAGT	WDR38	ENSG00000136918.8	transcript	ENST00000373574.2	protein_coding		891		chr9	TogoVar
WDR44_chrX_118341106_118454961	118352352	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0210 a0001c0003t0003g0210	1	293	0.0034	29	c.77+ others(44): Show c.77+5773_77+5774insATATATATATATATATTTTTTTTTTTTTT	WDR44	ENSG00000131725.14	transcript	ENST00000254029.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chrX	TogoVar
WDR44_chrX_118341106_118454961	118352352	A A	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0214 a0001c0003t0003g0214	1	293	0.0034	29	c.77+ others(44): Show c.77+5773_77+5774insATATATATATATATTTTTTTTTTTTTTTT	WDR44	ENSG00000131725.14	transcript	ENST00000254029.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chrX	TogoVar
WDR44_chrX_118341106_118454961	118352352	A A	ATATATAT others(22): Show ATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0003	a0006c0007t0003g0218 a0006c0007t0003g0218	1	293	0.0034	29	c.77+ others(44): Show c.77+5773_77+5774insATATATATATATTTTTTTTTTTTTTTTTT	WDR44	ENSG00000131725.14	transcript	ENST00000254029.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chrX	TogoVar
WDR49_chr3_167473684_167658942	167545509	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG04199.hp1 HG00741.hp2 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0109 a0002c0002t0001g0111	2	210	0.0095	29	c.182 others(48): Show c.1824-8510_1824-8509insTATATATATATATATATATATATATA TAT	WDR49	ENSG00000174776.12	transcript	ENST00000682715.1	protein_coding	10/18			chr3	TogoVar
WDR59_chr16_74866362_74990123	74958592	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	294	0.0034	29	c.105 others(46): Show c.105-1983_105-1982insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	WDR59	ENSG00000103091.15	transcript	ENST00000262144.11	protein_coding	2/25			chr16	TogoVar
WDR86_chr7_151376124_151415038	151402070	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18947.hp1 HG04115.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0006 a0001c0001t0001 a0001c0003t0006	a0001c0001t0001g0416 a0001c0003t0006g0062 a0001c0001t0001g0416 a0001c0003t0006g0062	2	458	0.0044	29	c.164 others(46): Show c.164-1830_164-1829insATATATATATATATATTTTTTTTTTTTT T	WDR86	ENSG00000187260.16	transcript	ENST00000334493.11	protein_coding	1/5			chr7	TogoVar
WDR86_chr7_151376124_151415038	151402070	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	458	0.0022	29	c.164 others(46): Show c.164-1830_164-1829insATATATATATATATATATATTTTTTTTT T	WDR86	ENSG00000187260.16	transcript	ENST00000334493.11	protein_coding	1/5			chr7	TogoVar
WDR86_chr7_151376124_151415038	151402070	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0209 a0002c0004t0001g0209	1	458	0.0022	29	c.164 others(46): Show c.164-1830_164-1829insATATATATATATATATATATATTTTTTT T	WDR86	ENSG00000187260.16	transcript	ENST00000334493.11	protein_coding	1/5			chr7	TogoVar
WDR90_chr16_644365_672830	660957	C C	CCCTCCCC others(22): Show CCCTCCCCAGGCCCCCCCCCCGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02976.hp2 HG03139.hp2 others(1): Show HG01891.hp1 HG02976.hp2 HG03139.hp2 HG03209.hp1	a0004 a0005 a0016 others(1): Show a0004 a0005 a0016 a0033	a0004c0027 a0005c0006 a0016c0024 others(1): Show a0004c0027 a0005c0006 a0016c0024 a0033c0049	a0004c0027t0003 a0005c0006t0003 a0016c0024t0003 others(1): Show a0004c0027t0003 a0005c0006t0003 a0016c0024t0003 a0033c0049t0003	a0004c0027t0003g0187 a0005c0006t0003g0180 a0016c0024t0003g0121 others(1): Show a0004c0027t0003g0187 a0005c0006t0003g0180 a0016c0024t0003g0121 a0033c0049t0003g0120	4	376	0.0106	29	c.339 others(44): Show c.3392-93_3392-92insCTCCCCAGGCCCCCCCCCCGCCCGGCCTC	WDR90	ENSG00000161996.19	transcript	ENST00000293879.9	protein_coding	28/40		INFO_REALIGN_3_PRIME	chr16	TogoVar
WDR91_chr7_135178839_135216526	135212411	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0080 a0002c0002t0003g0080	1	396	0.0025	29	c.-91 others(38): Show c.-910_-909insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	WDR91	ENSG00000105875.15	transcript	ENST00000354475.5	protein_coding		886		chr7	TogoVar
WDR93_chr15_89685811_89748638	89712396	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0063 a0007c0009t0001g0063	1	352	0.0028	29	c.640 others(44): Show c.640+315_640+316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	WDR93	ENSG00000140527.15	transcript	ENST00000268130.12	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr15	TogoVar

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