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	status	chr	external
VPS53_chr17_503668_719839	543813	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0019 a0003c0004t0004g0019	1	232	0.0043	40	c.186 others(59): Show c.1867-6638_1867-6637insCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21		chr17	TogoVar
VPS53_chr17_503668_719839	543813	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0103 a0004c0008t0103	a0004c0008t0103g0227 a0004c0008t0103g0227	1	232	0.0043	40	c.186 others(59): Show c.1867-6638_1867-6637insCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTCCT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21		chr17	TogoVar
VPS53_chr17_503668_719839	662834	A A	AAAGAGAA others(33): Show AAAGAGAAAGAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0042 a0001c0005t0042	a0001c0005t0042g0044 a0001c0005t0042g0044	1	232	0.0043	40	c.286 others(55): Show c.286-940_286-939insCCTTCCTTCCTTCCTTCCTTTCTTTCTTTC TCTTTCTCTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21		chr17	TogoVar
VPS54_chr2_63887150_64024428	63970244	T T	TATATATA others(33): Show TATATATATAGATATATATAGATATATATAGATATATATAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp1 HG01169.hp2 others(19): Show HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01261.hp2 HG01993.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03225.hp1 HG03471.hp2 HG03688.hp1 NA18906.hp1 NA18989.hp2 NA19001.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 a0002c0002t0001 a0002c0002t0005 a0002c0006t0001 a0003c0005t0001 a0003c0005t0006	a0001c0001t0001g0026 a0001c0001t0001g0062 a0001c0001t0001g0257 others(19): Show a0001c0001t0001g0026 a0001c0001t0001g0062 a0001c0001t0001g0257 a0001c0001t0002g0200 a0001c0001t0002g0258 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0003t0001g0181 a0001c0003t0003g0284 a0001c0003t0003g0285 a0001c0003t0003g0302 a0002c0002t0001g0147 a0002c0002t0005g0115 a0002c0002t0005g0117 a0002c0006t0001g0179 a0002c0006t0001g0180 a0003c0005t0001g0004 a0003c0005t0001g0175 a0003c0005t0006g0005 a0003c0005t0006g0006	22	304	0.0724	40	c.458 others(57): Show c.458-1293_458-1254dupCTATATATATCTATATATATCTATATAT ATCTATATATAT	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	4/22		chr2	TogoVar
VPS8_chr3_184807166_185057604	184984194	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTCACCAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19000.hp2 HG00438.hp1 NA19000.hp2	a0001 a0004 a0001 a0004	a0001c0023 a0004c0006 a0001c0023 a0004c0006	a0001c0023t0002 a0004c0006t0003 a0001c0023t0002 a0004c0006t0003	a0001c0023t0002g0137 a0004c0006t0003g0207 a0001c0023t0002g0137 a0004c0006t0003g0207	2	274	0.0073	40	c.358 others(59): Show c.3585+1100_3585+1101insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAACTCACCAAG	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	42/47		chr3	TogoVar
VPS8_chr3_184807166_185057604	185003785	G G	GCTCCTCA others(33): Show GCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCGGAGGGT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	274	0.0037	40	c.400 others(59): Show c.4002+3950_4002+3989dupTGCCGGGCGGAGGGTCTCCTCACTTC TCAGACGGGGCGGC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	45/47	INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	185012978	T T	TATAGTTA others(33): Show TATAGTTATTTCCTACAGGAAATATAGTTATTTCCTACAGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03139.hp1 HG02970.hp1 HG03139.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0033 a0004c0003t0003g0040 a0004c0003t0003g0033 a0004c0003t0003g0040	2	274	0.0073	40	c.400 others(61): Show c.4003-11357_4003-11356insTAGTTATTTCCTACAGGAAATATA GTTATTTCCTACAGGA	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	45/47	INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK2_chr2_58041806_58164871	58136907	A A	ATATATTA others(33): Show ATATATTATATCATATATATGTGTATATATATCATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp1 HG02896.hp2 others(4): Show HG01891.hp1 HG02647.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0010 others(4): Show a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0010 a0001c0003t0001g0013 a0001c0003t0004g0009 a0001c0003t0004g0011 a0001c0003t0004g0012	7	340	0.0206	40	c.856 others(57): Show c.856+1713_856+1714insTATATCATATATATGTGTATATATATCA TATATATTATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12	INFO_REALIGN_3_PRIME	chr2	TogoVar
VSIR_chr10_71742556_71778520	71760249	A A	ATGTATAT others(33): Show ATGTATATATATGTATATACATATATATGTATGTATATATG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0306 a0003c0005t0004g0306	1	462	0.0022	40	c.568 others(55): Show c.568+579_568+618dupCATATATACATACATATATATGTATATACA TATATATACA	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6		chr10	TogoVar
VSX2_chr14_74234449_74267738	74244899	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGAAAGAGAGAGAGAAAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	422	0.0024	40	c.456 others(55): Show c.456-253_456-252insAAAGAGAGAGAGAAAGAGAGAGAGAAAGTG TGTGTGTGTG	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	2/4	INFO_REALIGN_3_PRIME	chr14	TogoVar
VSX2_chr14_74234449_74267738	74244901	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGAAAGAGAGAGAGAAAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp2 HG01169.hp1 others(10): Show HG01099.hp1 HG01168.hp2 HG01169.hp1 HG01358.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02602.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG04184.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0036 a0001c0002t0001g0226 others(4): Show a0001c0002t0001g0001 a0001c0002t0001g0036 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0243	13	422	0.0308	40	c.456 others(55): Show c.456-251_456-250insAAAGAGAGAGAGAAAGAGAGAGAGAAAGTG TGTGTGTGTG	VSX2	ENSG00000119614.3	transcript	ENST00000261980.3	protein_coding	2/4	INFO_REALIGN_3_PRIME	chr14	TogoVar
VTI1A_chr10_112442215_112823744	112618524	T T	TAGAGAGA others(33): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	168	0.0060	40	c.428 others(59): Show c.428-49670_428-49669insAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAG	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7	INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112618524	T T	TATAGAGA others(33): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	168	0.0060	40	c.428 others(59): Show c.428-49693_428-49692insTAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7	INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112618524	T T	TATATAGA others(33): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18998.hp1 NA18971.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0134 a0001c0001t0004g0097 a0001c0001t0002g0134 a0001c0001t0004g0097	2	168	0.0119	40	c.428 others(59): Show c.428-49693_428-49692insTATAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7	INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112618524	T T	TATATATA others(33): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	168	0.0060	40	c.428 others(59): Show c.428-49693_428-49692insTATATAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7	INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112733773	A A	ATTTTATT others(33): Show ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0086 a0001c0001t0001g0138 a0001c0001t0004g0006 a0001c0001t0001g0086 a0001c0001t0001g0138 a0001c0001t0004g0006	3	168	0.0179	40	c.560 others(59): Show c.560+64775_560+64776insTTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTG	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	7/7		chr10	TogoVar
VWA8_chr13_41561835_41966109	41573610	C C	CACATATA others(33): Show CACATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0087 a0007c0009t0002g0087	1	250	0.0040	40	c.537 others(59): Show c.5370+2129_5370+2130insATATATATATATATATATATATATAT ATATATATATATGT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	43/44		chr13	TogoVar
VWA8_chr13_41561835_41966109	41784699	T T	TATACATA others(33): Show TATACATATACATATACATATACATATACATATACATATAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0189 a0009c0008t0001g0189	1	250	0.0040	40	c.217 others(57): Show c.2171-799_2171-798insGTATATGTATATGTATATGTATATGTAT ATGTATATGTAT	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	18/44		chr13	TogoVar
VWC2L_chr2_214406054_214583976	214433159	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03486.hp1 HG02280.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0092 a0001c0001t0003g0084 a0001c0001t0002g0092 a0001c0001t0003g0084	2	282	0.0071	40	c.391 others(57): Show c.391-3446_391-3445insATATATATATATATATATATATATATAT ATATATATATAT	VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding	2/3	INFO_REALIGN_3_PRIME	chr2	TogoVar
VWC2_chr7_49768638_49926950	49877481	A A	AAAAAATA others(33): Show AAAAAATATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04199.hp2 NA19086.hp1 HG03688.hp2 HG04199.hp2 NA19086.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0006 a0002c0002t0002 a0003c0003t0006	a0002c0002t0002g0073 a0003c0003t0006g0220 a0003c0003t0006g0234 a0002c0002t0002g0073 a0003c0003t0006g0220 a0003c0003t0006g0234	3	256	0.0117	40	c.827 others(59): Show c.827-34552_827-34551insAAAATATACATATATATATATATATA TATATATATATATA	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3	INFO_REALIGN_3_PRIME	chr7	TogoVar
VWF_chr12_5943877_6129670	5964234	A A	ACATGCAT others(33): Show ACATGCATGCATGCATGCATACATACATACATGCATGCATG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0006 a0006	a0006c0036 a0006c0036	a0006c0036t0001 a0006c0036t0001	a0006c0036t0001g0208 a0006c0036t0001g0219 a0006c0036t0001g0208 a0006c0036t0001g0219	2	288	0.0069	40	c.788 others(59): Show c.7887+3251_7887+3252insCATGCATGCATGTATGTATGTATGCA TGCATGCATGCATG	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	47/51		chr12	TogoVar
VWF_chr12_5943877_6129670	6092616	A A	AGTGAGTG others(33): Show AGTGAGTGAGTGAGTGAGAGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0051 a0051	a0051c0070 a0051c0070	a0051c0070t0001 a0051c0070t0001	a0051c0070t0001g0150 a0051c0070t0001g0150	1	288	0.0035	40	c.657 others(57): Show c.657+2843_657+2844insACTCTCTCTCTCTCTCTCTCTCTCTCAC TCACTCACTCAC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51		chr12	TogoVar
VWF_chr12_5943877_6129670	6092618	A A	AGTGAGAG others(33): Show AGTGAGAGTGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0001 a0013c0016t0001	a0013c0016t0001g0281 a0013c0016t0001g0281	1	288	0.0035	40	c.657 others(57): Show c.657+2841_657+2842insACACACACACACACTCTCTCTCTCTCTC TCTCACTCTCAC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51		chr12	TogoVar
VWF_chr12_5943877_6129670	6092620	T T	TGAGAGTG others(33): Show TGAGAGTGAGAGTGAGAGTGAGAGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03540.hp1 HG02630.hp2 HG03540.hp1	a0012 a0097 a0012 a0097	a0012c0095 a0097c0097 a0012c0095 a0097c0097	a0012c0095t0001 a0097c0097t0001 a0012c0095t0001 a0097c0097t0001	a0012c0095t0001g0003 a0097c0097t0001g0005 a0012c0095t0001g0003 a0097c0097t0001g0005	2	288	0.0069	40	c.657 others(57): Show c.657+2839_657+2840insTCTCTCTCTCTCTCTCACTCTCACTCTC ACTCTCACTCTC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51		chr12	TogoVar
WASF1_chr6_110094819_110184670	110124274	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0177 a0001c0001t0004g0177	1	262	0.0038	40	c.133 others(57): Show c.133+3194_133+3195insTATATATATATATATATATATATATATA TAGAGAGAGAGA	WASF1	ENSG00000112290.13	transcript	ENST00000392589.6	protein_coding	4/10		chr6	TogoVar
WASF3_chr13_26552683_26693948	26578993	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0093 a0002c0003t0003g0093	1	294	0.0034	40	c.-10 others(61): Show c.-109+21197_-109+21198insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	WASF3	ENSG00000132970.14	transcript	ENST00000335327.6	protein_coding	1/9	INFO_REALIGN_3_PRIME	chr13	TogoVar
WASHC2A_chr10_50062954_50138509	50090515	A A	AAAATATA others(33): Show AAAATATATATATATTTATATATATATATATATTTATATTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00735.hp2 HG01074.hp1 others(27): Show HG00597.hp1 HG00735.hp2 HG01074.hp1 HG01123.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02148.hp1 HG02300.hp2 HG03654.hp2 HG03927.hp1 HG04204.hp2 NA18954.hp2 NA18956.hp2 NA18999.hp2 NA19062.hp2 NA19082.hp2 NA19085.hp1 NA20129.hp1 NA20752.hp1	a0004 a0015 a0019 others(2): Show a0004 a0015 a0019 a0039 a0041	a0004c0003 a0015c0014 a0019c0021 others(2): Show a0004c0003 a0015c0014 a0019c0021 a0039c0032 a0041c0031	a0004c0003t0003 a0004c0003t0004 a0015c0014t0003 others(3): Show a0004c0003t0003 a0004c0003t0004 a0015c0014t0003 a0019c0021t0003 a0039c0032t0003 a0041c0031t0004	a0004c0003t0003g0001 a0004c0003t0003g0024 a0004c0003t0003g0025 others(24): Show a0004c0003t0003g0001 a0004c0003t0003g0024 a0004c0003t0003g0025 a0004c0003t0003g0061 a0004c0003t0003g0063 a0004c0003t0003g0064 a0004c0003t0003g0065 a0004c0003t0003g0067 a0004c0003t0003g0068 a0004c0003t0003g0069 a0004c0003t0003g0070 a0004c0003t0003g0071 a0004c0003t0003g0072 a0004c0003t0003g0073 a0004c0003t0003g0075 a0004c0003t0003g0079 a0004c0003t0003g0081 a0004c0003t0003g0082 a0004c0003t0003g0087 a0004c0003t0003g0093 a0004c0003t0004g0173 a0015c0014t0003g0062 a0015c0014t0003g0074 a0015c0014t0003g0086 a0019c0021t0003g0066 a0039c0032t0003g0080 a0041c0031t0004g0001	30	310	0.0968	40	c.733 others(55): Show c.733-260_733-259insAATATATATATATTTATATATATATATATA TTTATATTTA	WASHC2A	ENSG00000099290.17	transcript	ENST00000282633.10	protein_coding	8/30	INFO_REALIGN_3_PRIME	chr10	TogoVar
WASHC2A_chr10_50062954_50138509	50090515	A A	AATATATA others(33): Show AATATATATATATATTTATATATATATATATATTTATATTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA18945.hp1 HG01981.hp2 NA18945.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0026 a0004c0003t0003g0059 a0004c0003t0003g0026 a0004c0003t0003g0059	2	310	0.0065	40	c.733 others(55): Show c.733-247_733-246insTTATATATATATATATATTTATATTTATAT ATATATATAT	WASHC2A	ENSG00000099290.17	transcript	ENST00000282633.10	protein_coding	8/30	INFO_REALIGN_3_PRIME	chr10	TogoVar
WASHC2C_chr10_45722266_45797964	45749836	A A	AAAAAAAA others(33): Show AAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03579.hp1 HG02818.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0265 a0001c0001t0001g0070 a0001c0001t0001g0265	2	380	0.0053	40	c.733 others(55): Show c.733-259_733-258insAAAAAAAAAATATATATATATATATATATA TATATATATA	WASHC2C	ENSG00000172661.20	transcript	ENST00000623400.4	protein_coding	8/30	INFO_REALIGN_3_PRIME	chr10	TogoVar
WASHC2C_chr10_45722266_45797964	45749836	A A	AAAAAAAA others(33): Show AAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	380	0.0026	40	c.733 others(55): Show c.733-259_733-258insAAAAAAAATATATATATATATATATATATA TATATATATA	WASHC2C	ENSG00000172661.20	transcript	ENST00000623400.4	protein_coding	8/30	INFO_REALIGN_3_PRIME	chr10	TogoVar
WASHC2C_chr10_45722266_45797964	45784289	T T	TATACACA others(33): Show TATACACACACACATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0349 a0004c0004t0002g0349	1	380	0.0026	40	c.247 others(57): Show c.2479-275_2479-274insTACACACACACATATATATATATATATA TATACACACACA	WASHC2C	ENSG00000172661.20	transcript	ENST00000623400.4	protein_coding	23/30	INFO_REALIGN_3_PRIME	chr10	TogoVar
WASHC2C_chr10_45722266_45797964	45784289	T T	TATATACA others(33): Show TATATACACACACACATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0340 a0004c0004t0002g0340	1	380	0.0026	40	c.247 others(57): Show c.2479-275_2479-274insTATACACACACACATATATATATATATA TATACACACACA	WASHC2C	ENSG00000172661.20	transcript	ENST00000623400.4	protein_coding	23/30	INFO_REALIGN_3_PRIME	chr10	TogoVar
WASHC2C_chr10_45722266_45797964	45784293	C C	CACACACA others(33): Show CACACACACATATATATATATATATATATACACACACATAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18964.hp2 NA18966.hp2 others(2): Show NA18961.hp1 NA18964.hp2 NA18966.hp2 NA19003.hp2 NA20752.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0014 a0004c0004t0002 a0004c0004t0014	a0004c0004t0002g0010 a0004c0004t0002g0360 a0004c0004t0002g0367 others(1): Show a0004c0004t0002g0010 a0004c0004t0002g0360 a0004c0004t0002g0367 a0004c0004t0014g0366	5	380	0.0132	40	c.247 others(57): Show c.2479-271_2479-270insCACACACATATATATATATATATATATA CACACACATATA	WASHC2C	ENSG00000172661.20	transcript	ENST00000623400.4	protein_coding	23/30	INFO_REALIGN_3_PRIME	chr10	TogoVar
WBP2NL_chr22_41993788_42033475	42008088	C C	CTTCCTTT others(33): Show CTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG02622.hp2 others(9): Show HG00423.hp2 HG00673.hp1 HG02622.hp2 HG02683.hp2 NA18972.hp2 NA18975.hp2 NA18980.hp1 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19007.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0180 others(8): Show a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0263 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0002g0309	12	388	0.0309	40	c.62+ others(55): Show c.62+9240_62+9241insCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTT	WBP2NL	ENSG00000183066.14	transcript	ENST00000328823.13	protein_coding	1/5	INFO_REALIGN_3_PRIME	chr22	TogoVar
WBP2NL_chr22_41993788_42033475	42008106	C C	CCTTTCCT others(33): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	388	0.0026	40	c.62+ others(55): Show c.62+9240_62+9241insCCTTTCCTTTCCTTTCCTTTCCTTTGCTTT CCTTTCCTTT	WBP2NL	ENSG00000183066.14	transcript	ENST00000328823.13	protein_coding	1/5	INFO_REALIGN_3_PRIME	chr22	TogoVar
WBP2NL_chr22_41993788_42033475	42008111	C C	CCTTTCCT others(33): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0337 a0004c0004t0002g0337	1	388	0.0026	40	c.62+ others(55): Show c.62+9240_62+9241insCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT GCTTTCCTTT	WBP2NL	ENSG00000183066.14	transcript	ENST00000328823.13	protein_coding	1/5	INFO_REALIGN_3_PRIME	chr22	TogoVar
WBP2NL_chr22_41993788_42033475	42008116	C C	CCTTTCCT others(33): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG01261.hp2 others(12): Show HG01109.hp1 HG01167.hp1 HG01261.hp2 HG03098.hp2 HG03831.hp2 HG04228.hp2 NA18973.hp2 NA18983.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19079.hp1 NA19085.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0002 a0001c0001t0001 a0004c0004t0002	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 others(12): Show a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0212 a0001c0001t0001g0322 a0001c0001t0001g0323 a0004c0004t0002g0348	15	388	0.0387	40	c.62+ others(55): Show c.62+9240_62+9241insCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTGCTTT	WBP2NL	ENSG00000183066.14	transcript	ENST00000328823.13	protein_coding	1/5	INFO_REALIGN_3_PRIME	chr22	TogoVar
WBP2NL_chr22_41993788_42033475	42008126	C C	CCTTTCCT others(33): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	388	0.0026	40	c.62+ others(55): Show c.62+9285_62+9286insGCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTT	WBP2NL	ENSG00000183066.14	transcript	ENST00000328823.13	protein_coding	1/5	INFO_REALIGN_3_PRIME	chr22	TogoVar
WDHD1_chr14_54933949_55032099	55003587	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02809.hp1 HG02109.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0119 a0001c0001t0003g0122	2	286	0.0070	40	c.601 others(57): Show c.601-1403_601-1402insTATATATATATATATATATATATATATA TATATATATATA	WDHD1	ENSG00000198554.12	transcript	ENST00000360586.8	protein_coding	7/25		chr14	TogoVar
WDPCP_chr2_63114559_63593477	63313866	A A	ATATATAT others(33): Show ATATATATGTGTGTGTGTATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18941.hp2 HG01192.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0033 a0001c0001t0002g0015 a0001c0001t0001g0033 a0001c0001t0002g0015	2	216	0.0093	40	c.174 others(57): Show c.1749-556_1749-555insCACACACACATATATATATATATACACA CACACATATATA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	12/17		chr2	TogoVar
WDPCP_chr2_63114559_63593477	63313868	A A	ATATATAT others(33): Show ATATATATGTGTGTGTATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01934.hp1 HG02056.hp1 others(13): Show HG00735.hp1 HG01934.hp1 HG02056.hp1 HG02074.hp2 HG02451.hp1 HG02630.hp1 HG02922.hp1 HG03130.hp1 HG03239.hp2 HG03540.hp1 HG03654.hp1 NA18941.hp1 NA18943.hp2 NA18947.hp1 NA18963.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0038 a0001c0001t0040 others(1): Show a0001c0001t0001 a0001c0001t0038 a0001c0001t0040 a0002c0003t0001	a0001c0001t0001g0019 a0001c0001t0001g0043 a0001c0001t0001g0055 others(13): Show a0001c0001t0001g0019 a0001c0001t0001g0043 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0091 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0038g0144 a0001c0001t0040g0216 a0002c0003t0001g0085	16	216	0.0741	40	c.174 others(57): Show c.1749-558_1749-557insCACACACACATATATATATATATATACA CACACATATATA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	12/17		chr2	TogoVar
WDPCP_chr2_63114559_63593477	63313868	A A	ATATATAT others(33): Show ATATATATGTGTGTGTGTATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02922.hp2 HG02970.hp1 others(2): Show HG00642.hp2 HG02922.hp2 HG02970.hp1 NA18999.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0001 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0027 a0001c0001t0006g0056 a0001c0001t0006g0061 others(2): Show a0001c0001t0001g0027 a0001c0001t0006g0056 a0001c0001t0006g0061 a0001c0001t0009g0121 a0001c0001t0009g0122	5	216	0.0232	40	c.174 others(57): Show c.1749-558_1749-557insCACACACACATATATATATATATACACA CACACATATATA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	12/17		chr2	TogoVar
WDPCP_chr2_63114559_63593477	63313868	A A	ATATATGT others(33): Show ATATATGTGTGTGTATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03710.hp1 HG02895.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0191 a0001c0001t0007g0149 a0001c0001t0005g0191 a0001c0001t0007g0149	2	216	0.0093	40	c.174 others(57): Show c.1749-558_1749-557insCACACACACATATATATATATATATATA CACACACATATA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	12/17		chr2	TogoVar
WDR18_chr19_979345_999557	991661	C C	CGGGGCCT others(33): Show CGGGGCCTGGCTGGGAGCGTGAACTGGGTTTGCTGTGGGGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	456	0.0022	40	c.932 others(55): Show c.932-280_932-279insAGCGTGAACTGGGTTTGCTGTGGGGTGGGG CCTGGCTGGG	WDR18	ENSG00000065268.11	transcript	ENST00000585809.6	protein_coding	7/9	INFO_REALIGN_3_PRIME	chr19	TogoVar
WDR37_chr10_1051385_1137372	1069389	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	362	0.0028	40	c.-40 others(57): Show c.-40-2726_-40-2725insATATATATATATATATATATATATATTT TTTTTTTTTTTT	WDR37	ENSG00000047056.18	transcript	ENST00000263150.9	protein_coding	1/13	INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR37_chr10_1051385_1137372	1069389	A A	ATATATAT others(33): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0085 a0001c0001t0012g0085	1	362	0.0028	40	c.-40 others(57): Show c.-40-2726_-40-2725insATATATATATATATATATATATTTTTTT TTTTTTTTTTTT	WDR37	ENSG00000047056.18	transcript	ENST00000263150.9	protein_coding	1/13	INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR44_chrX_118341106_118454961	118352352	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0203 a0001c0003t0003g0203	1	293	0.0034	40	c.77+ others(55): Show c.77+5773_77+5774insATATATATATATATATATATATATTTTTTT TTTTTTTTTT	WDR44	ENSG00000131725.14	transcript	ENST00000254029.8	protein_coding	1/19	INFO_REALIGN_3_PRIME	chrX	TogoVar
WDR44_chrX_118341106_118454961	118368459	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0267 a0002c0006t0001g0267	1	293	0.0034	40	c.78- others(55): Show c.78-9938_78-9937insTATATATATATATATATATATATATATATA TATATATATA	WDR44	ENSG00000131725.14	transcript	ENST00000254029.8	protein_coding	1/19	INFO_REALIGN_3_PRIME	chrX	TogoVar
WDR59_chr16_74866362_74990123	74906313	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	294	0.0034	40	c.171 others(59): Show c.1713-2214_1713-2213insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	WDR59	ENSG00000103091.15	transcript	ENST00000262144.11	protein_coding	17/25		chr16	TogoVar
WDR59_chr16_74866362_74990123	74981660	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0014 a0004c0011t0014	a0004c0011t0014g0129 a0004c0011t0014g0129	1	294	0.0034	40	c.54+ others(55): Show c.54+3303_54+3304insAAAAAATATATATATATATATATATATATA TATATATATA	WDR59	ENSG00000103091.15	transcript	ENST00000262144.11	protein_coding	1/25		chr16	TogoVar

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