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
PLEKHN1_chr1_961482_980865	977508	C C	CCAACCCC others(24): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02896.hp2 HG02897.hp2 HG02145.hp1 HG02896.hp2 HG02897.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0002 a0003c0021t0002	a0003c0021t0002g0006 a0003c0021t0002g0006	3	422	0.0071	31	c.29 others(42): Show c.2933_*2934insCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1644		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977508	C C	GCAACCCC others(24): Show GCAACCCCGGGAACCGCCTCCCACCACCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0099 a0003c0003t0011g0099	1	422	0.0024	31	c.29 others(42): Show c.2932_*2933insGCAACCCCGGGAACCGCCTCCCACCACCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1643		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977572	C C	CCAACCCC others(24): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02895.hp2 HG02922.hp2 others(4): Show HG02809.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG03195.hp1 HG03225.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0009 a0001c0011 a0007c0015 a0001c0009 a0001c0011 a0007c0015	a0001c0009t0002 a0001c0009t0008 a0001c0011t0007 others(1): Show a0001c0009t0002 a0001c0009t0008 a0001c0011t0007 a0007c0015t0007	a0001c0009t0002g0024 a0001c0009t0002g0123 a0001c0009t0002g0125 others(3): Show a0001c0009t0002g0024 a0001c0009t0002g0123 a0001c0009t0002g0125 a0001c0009t0008g0094 a0001c0011t0007g0155 a0007c0015t0007g0042	7	422	0.0166	31	c.29 others(42): Show c.2997_*2998insCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1708		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977651	G G	GCCTCCCA others(24): Show GCCTCCCACTCCCCGCGCAACCCCGGGAACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0001 a0001c0007t0001g0001	1	422	0.0024	31	c.30 others(42): Show c.3076_*3077insCCTCCCACTCCCCGCGCAACCCCGGGAACCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1787		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977960	A A	ACCCCGCC others(24): Show ACCCCGCCAACCCCGGGAACCGCCTCCACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	422	0.0024	31	c.33 others(42): Show c.3385_*3386insCCCCGCCAACCCCGGGAACCGCCTCCACCAC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		2096		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977989	T T	TCCCCCCA others(24): Show TCCCCCCAACCCCAGGAACCGCCTCCCAACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0019 a0001c0011t0019	a0001c0011t0019g0163 a0001c0011t0019g0163	1	422	0.0024	31	c.34 others(42): Show c.3414_*3415insCCCCCCAACCCCAGGAACCGCCTCCCAACCC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		2125		chr1	TogoVar
PLEKHO1_chr1_150144916_150165065	150149899	T T	TGCGGACT others(24): Show TGCGGACTGGGCCGCCCACAGCGCACCGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	426	0.0024	31	c.-35 others(40): Show c.-359_-358insGCGGACTGGGCCGCCCACAGCGCACCGGGCC	PLEKHO1	ENSG00000023902.14	transcript	ENST00000369124.5	protein_coding		16		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	384	0.0026	31	c.-24 others(42): Show c.-2481_-2480insAAAAAAAAAAAAAAAAAATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	384	0.0026	31	c.-24 others(42): Show c.-2481_-2480insAAAAAAAAAAAAAATATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0035 a0003c0013t0001g0035	1	384	0.0026	31	c.-24 others(42): Show c.-2481_-2480insAAAAAAAAAAAATATATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG02486.hp2 NA18944.hp2 others(1): Show HG00423.hp1 HG02486.hp2 NA18944.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0002t0001g0002 a0001c0001t0001g0004 a0001c0002t0001g0002	4	384	0.0104	31	c.-24 others(42): Show c.-2481_-2480insAAAAAAAAAATATATATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA19010.hp2 NA18995.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0002t0001g0002 a0001c0001t0001g0005 a0001c0002t0001g0002	2	384	0.0052	31	c.-24 others(42): Show c.-2481_-2480insAAAAAAAATATATATATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	384	0.0026	31	c.-24 others(42): Show c.-2481_-2480insAATATATATATATATATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLPP2_chr19_276043_296403	291604	G G	GGAGGGGC others(24): Show GGAGGGGCGGGGAGGGGAGAGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00438.hp2 others(64): Show HG00140.hp2 HG00423.hp2 HG00438.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02080.hp2 HG02293.hp2 HG02559.hp2 HG02602.hp1 HG02698.hp1 HG03195.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18944.hp1 NA18951.hp2 NA18952.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18973.hp2 NA18984.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19003.hp2 NA19010.hp1 NA19012.hp2 NA19065.hp1 NA19066.hp1 NA19080.hp1 NA19084.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007	a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0077 others(33): Show a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0077 a0001c0001t0001g0155 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0181 a0001c0001t0002g0147 a0001c0001t0002g0148 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0072 a0002c0002t0001g0075 a0002c0002t0001g0146 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0156 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0171 a0002c0002t0001g0173 a0002c0002t0002g0076 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0007g0158	67	354	0.1893	31	c.-26 others(40): Show c.-269_-268insTCCCCTCCCCCCTCTCCCCTCCCCGCCCCTC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		202		chr19	TogoVar
PLPP3_chr1_56489761_56584563	56557018	G G	GAAAGAAA others(24): Show GAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0300 a0001c0001t0002g0300	1	336	0.0030	31	c.140 others(50): Show c.140-19907_140-19906insTTTCTTTCTTTCTTTCCTTCTTTCTT TCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPPR1_chr9_101023727_101330135	101316616	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01081.hp2 HG01255.hp2 others(10): Show HG01071.hp2 HG01081.hp2 HG01255.hp2 HG01891.hp2 HG02109.hp2 HG02451.hp2 HG02818.hp1 HG02897.hp1 HG03098.hp2 HG03209.hp2 HG03471.hp2 HG03516.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0002g0018 a0001c0001t0002g0033 a0001c0001t0002g0106 others(10): Show a0001c0001t0002g0018 a0001c0001t0002g0033 a0001c0001t0002g0106 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0138 a0001c0001t0002g0142 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0004g0072 a0001c0001t0007g0087 a0001c0001t0007g0096	13	203	0.0640	31	c.814 others(46): Show c.814-737_814-736insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLS1_chr3_142591393_142718664	142628335	G G	GTGTGTGC others(24): Show GTGTGTGCGCGCACATGTGCATGCAGTGTGCA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	276	0.0036	31	c.-37 others(50): Show c.-37+31865_-37+31895dupGCGCACATGTGCATGCAGTGTGCATG TGTGC	PLS1	ENSG00000120756.13	transcript	ENST00000457734.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLSCR2_chr3_146428288_146474561	146468572	G G	GGCAGTAC others(24): Show GGCAGTACTCAGTGAGTACTGCCAGGCACTCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	364	0.0028	31	c.-18 others(48): Show c.-180+922_-180+923insGGAGTGCCTGGCAGTACTCACTGAGTAC TGC	PLSCR2	ENSG00000163746.13	transcript	ENST00000696113.1	protein_coding	1/7			chr3	TogoVar
PLVAP_chr19_17346455_17382342	17349244	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0248 a0001c0001t0005g0248	1	436	0.0023	31	c.31 others(42): Show c.3117_*3118insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2210		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382272	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	436	0.0023	31	c.-49 others(42): Show c.-4985_-4984insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4931		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02004.hp2 HG03490.hp2 others(5): Show HG01109.hp2 HG02004.hp2 HG03490.hp2 HG03491.hp2 NA18951.hp2 NA18980.hp1 NA18998.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0015 a0001c0001t0001g0252 a0001c0001t0001g0268 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0252 a0001c0001t0001g0268 a0001c0001t0001g0331 a0001c0001t0001g0336 a0001c0001t0001g0357 a0001c0001t0001g0404 a0001c0001t0003g0367	8	436	0.0184	31	c.-49 others(42): Show c.-4989_-4988insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4935		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382280	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02647.hp2 HG02145.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0100 a0001c0001t0002g0078 a0001c0001t0002g0100	2	436	0.0046	31	c.-49 others(42): Show c.-4993_-4992insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4939		chr19	TogoVar
PLXNA2_chr1_208017242_208249384	208209983	A A	AATTTTTT others(24): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18939.hp1 NA21309.hp1 HG01099.hp2 NA18939.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0022 a0001c0001t0058 a0001c0001t0009 a0001c0001t0022 a0001c0001t0058	a0001c0001t0009g0295 a0001c0001t0022g0270 a0001c0001t0058g0028 a0001c0001t0009g0295 a0001c0001t0022g0270 a0001c0001t0058g0028	3	312	0.0096	31	c.137 others(48): Show c.1371+296_1371+297insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAT	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNB2_chr22_50269979_50312646	50307773	G G	GGAGGGGG others(24): Show GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01123.hp1 HG01258.hp2 others(20): Show HG00408.hp2 HG01123.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02155.hp1 HG03927.hp1 NA18957.hp1 NA18970.hp1 NA18971.hp2 NA18983.hp2 NA18990.hp1 NA18993.hp1 NA19012.hp1 NA19088.hp2 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0013	a0001c0002 a0001c0003 a0001c0006 others(8): Show a0001c0002 a0001c0003 a0001c0006 a0002c0007 a0002c0009 a0002c0028 a0003c0001 a0004c0004 a0005c0016 a0005c0067 a0013c0030	a0001c0002t0002 a0001c0003t0001 a0001c0006t0001 others(8): Show a0001c0002t0002 a0001c0003t0001 a0001c0006t0001 a0002c0007t0001 a0002c0009t0002 a0002c0028t0001 a0003c0001t0001 a0004c0004t0002 a0005c0016t0002 a0005c0067t0001 a0013c0030t0001	a0001c0002t0002g0186 a0001c0002t0002g0195 a0001c0002t0002g0199 others(20): Show a0001c0002t0002g0186 a0001c0002t0002g0195 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0003t0001g0206 a0001c0003t0001g0209 a0001c0006t0001g0138 a0002c0007t0001g0226 a0002c0009t0002g0240 a0002c0028t0001g0224 a0002c0028t0001g0225 a0003c0001t0001g0202 a0004c0004t0002g0167 a0004c0004t0002g0173 a0004c0004t0002g0175 a0004c0004t0002g0217 a0004c0004t0002g0218 a0004c0004t0002g0221 a0004c0004t0002g0222 a0004c0004t0002g0241 a0005c0016t0002g0223 a0005c0067t0001g0045 a0013c0030t0001g0219	23	302	0.0762	31	c.-29 others(40): Show c.-295_-294insTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		128		chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50307856	G G	GAGGGGAG others(24): Show GAGGGGAGGGGAGAGGGGAGGGGGAGCGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0001 a0012c0023t0001	a0012c0023t0001g0035 a0012c0023t0001g0035	1	302	0.0033	31	c.-37 others(40): Show c.-378_-377insTCCCCGCTCCCCCTCCCCTCTCCCCTCCCCT	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		211		chr22	TogoVar
PLXNB3_chrX_153759249_153784341	153772125	G G	GTGGAGAA others(24): Show GTGGAGAAGGTGCGCTCAGGTAGACAGCTGGC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0013 a0013	a0013c0032 a0013c0032	a0013c0032t0004 a0013c0032t0004	a0013c0032t0004g0085 a0013c0032t0004g0085	1	308	0.0033	31	c.267 others(46): Show c.2670-54_2670-53insAGAAGGTGCGCTCAGGTAGACAGCTGGCTG G	PLXNB3	ENSG00000198753.12	transcript	ENST00000361971.10	protein_coding	15/35		INFO_REALIGN_3_PRIME	chrX	TogoVar
PM20D1_chr1_205823025_205855132	205853432	C C	CATATAAT others(24): Show CATATAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0166 a0002c0009t0001g0166	1	416	0.0024	31	c.-33 others(42): Show c.-3361_-3360insATATATATATATATATATATATATATTATAT	PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding		3301		chr1	TogoVar
PM20D1_chr1_205823025_205855132	205853436	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0012 a0012	a0012c0029 a0012c0029	a0012c0029t0002 a0012c0029t0002	a0012c0029t0002g0152 a0012c0029t0002g0152	1	416	0.0024	31	c.-33 others(42): Show c.-3365_-3364insATATATATATATATATATATATATATATATA	PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding		3305		chr1	TogoVar
PMM1_chr22_41571900_41594840	41594335	G G	GGGTGGGG others(24): Show GGGTGGGGGGGCGGTGGGGGGGTGGGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	330	0.0030	31	c.-45 others(42): Show c.-4531_-4530insGCCTCCCCCACCCCCCCACCGCCCCCCCACC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4496		chr22	TogoVar
PMS1_chr2_189779450_189882629	189864687	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	234	0.0043	31	c.234 others(48): Show c.2342+460_2342+461insAAAAAAAAAAAAAAAAAAAAAAAAATAT ATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNMA6E_chrX_153390639_153406350	153391336	A A	ACACACAC others(24): Show ACACACACCATGCACACCACGCACTCACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	346	0.0029	31	c.55 others(42): Show c.5569_*5570insGTGTGTGAGTGCGTGGTGTGCATGGTGTGTG	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding		4302		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153391975	A A	ACACACCA others(24): Show ACACACCACACACACACACCATGCACACCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00673.hp1 HG02071.hp1 others(4): Show HG00544.hp2 HG00673.hp1 HG02071.hp1 HG04184.hp1 NA18987.hp2 NA19074.hp2 NA19076.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0004c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0003g0010 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0003g0010 a0001c0001t0003g0091 a0002c0002t0002g0001 a0004c0004t0001g0094	7	346	0.0202	31	c.49 others(42): Show c.4930_*4931insCATGGTGTGCATGGTGTGTGTGTGTGGTGTG	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding		3663		chrX	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTG others(24): Show GTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	454	0.0022	31	c.-20 others(42): Show c.-2004_-2003insAAAAAAAAAAAAAAAAAAAAAAAACAAAAAA	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		1698		chr19	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02622.hp1 HG03041.hp2 others(1): Show HG00639.hp2 HG02622.hp1 HG03041.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0019 a0001c0002t0007 a0001c0008t0041 a0001c0001t0019 a0001c0002t0007 a0001c0008t0041	a0001c0001t0019g0029 a0001c0002t0007g0007 a0001c0008t0041g0084 a0001c0001t0019g0029 a0001c0002t0007g0007 a0001c0008t0041g0084	4	454	0.0088	31	c.-20 others(42): Show c.-2004_-2003insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		1698		chr19	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	390	0.0026	31	c.161 others(48): Show c.161+1784_161+1785insAAAAAAAAATATATATATATATATATAT ATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0117 a0001c0001t0006g0117	1	390	0.0026	31	c.161 others(48): Show c.161+1784_161+1785insAAAAAAAAAAATATATATATATATATAT ATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PODXL_chr7_131495271_131561628	131558478	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0003 a0005c0019t0003	a0005c0019t0003g0052 a0005c0019t0003g0052	1	440	0.0023	31	c.-21 others(42): Show c.-2120_-2119insAAAAAAATATATATATATATATATATATATA	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		1851		chr7	TogoVar
POLD3_chr11_74587582_74648076	74609373	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18747.hp2 HG02027.hp1 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0035 a0001c0002t0004g0076 a0001c0002t0004g0035 a0001c0002t0004g0076	2	400	0.0050	31	c.220 others(48): Show c.220-2126_220-2125insATATATATATATATATATATATATATAT ATA	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11			chr11	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG01109.hp2 others(14): Show HG00735.hp2 HG01106.hp1 HG01109.hp2 HG01346.hp1 HG02071.hp1 HG02257.hp1 HG02258.hp1 HG02559.hp1 HG02615.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03831.hp2 HG06807.hp2 NA18979.hp2 NA18998.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0121 a0001c0001t0002g0022 others(6): Show a0001c0001t0001g0009 a0001c0001t0001g0121 a0001c0001t0002g0022 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0003g0120 a0001c0002t0001g0018 a0001c0002t0001g0119 a0001c0002t0001g0136	17	340	0.0500	31	c.438 others(46): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar
POLK_chr5_75506891_75614991	75595248	G G	GAAAAAAA others(24): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0279 a0001c0001t0030g0279	1	356	0.0028	31	c.152 others(48): Show c.1529-949_1529-948insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	POLK	ENSG00000122008.16	transcript	ENST00000241436.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLR1A_chr2_86015216_86110886	86097214	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0013 a0013	a0013c0030 a0013c0030	a0013c0030t0065 a0013c0030t0065	a0013c0030t0065g0170 a0013c0030t0065g0170	1	340	0.0029	31	c.432 others(48): Show c.432+1396_432+1397insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	3/33			chr2	TogoVar
POLR2E_chr19_1081574_1100375	1082264	G G	GGGCGGGC others(24): Show GGGCGGGCGGGGCACGGAGTGGGCAGTGTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0091 a0001c0001t0012g0091	1	442	0.0023	31	c.64 others(42): Show c.6470_*6471insTGCACACTGCCCACTCCGTGCCCCGCCCGCC	POLR2E	ENSG00000099817.12	transcript	ENST00000615234.5	protein_coding		4309		chr19	TogoVar
POLR3C_chr1_145819200_145849402	145842809	A A	AGATAGAT others(24): Show AGATAGATAGATAGATAGATAGATAGATAGAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03130.hp1 HG03195.hp2 NA19030.hp1 HG03130.hp1 HG03195.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0034 a0001c0001t0014 a0001c0001t0034	a0001c0001t0014g0052 a0001c0001t0014g0056 a0001c0001t0034g0050 a0001c0001t0014g0052 a0001c0001t0014g0056 a0001c0001t0034g0050	3	368	0.0082	31	c.39 others(40): Show c.397_*398insGATAGATAGATAGATAGATAGATGATAGATA	POLR3C	ENSG00000186141.10	transcript	ENST00000334163.4	protein_coding	15/15	398	INFO_REALIGN_3_PRIME	chr1	TogoVar
POLR3E_chr16_22292409_22340096	22303639	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03225.hp1 HG03710.hp1 HG03098.hp2 HG03225.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0288 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0288	3	358	0.0084	31	c.36+ others(44): Show c.36+653_36+654insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	POLR3E	ENSG00000058600.16	transcript	ENST00000299853.10	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
POMZP3_chr7_76604986_76632279	76620861	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0063	1	423	0.0024	31	c.228 others(48): Show c.228-2562_228-2561insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	3/6			chr7	TogoVar
POR_chr7_75910155_75991855	75970938	T T	TTTTATTT others(24): Show TTTTATTTTATTTTATTTTATTTTATTTTAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0200 a0002c0001t0002g0200	1	278	0.0036	31	c.180 others(48): Show c.180-1472_180-1471insATTTTATTTTATTTTATTTTATTTTAAA TTT	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
POTED_chr21_13604777_13650823	13637005	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0100 a0002c0002t0004g0100	1	416	0.0024	31	c.141 others(50): Show c.1410-2510_1410-2509insATATATATATATATATATATATATAT ATATA	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding	9/10			chr21	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18991.hp2 NA19084.hp2 NA18941.hp1 NA18991.hp2 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0001 a0001c0003t0003g0019 a0001c0003t0003g0200 a0001c0003t0003g0001 a0001c0003t0003g0019 a0001c0003t0003g0200	3	416	0.0072	31	c.47 others(42): Show c.4721_*4722insAAAAAAAAAAAAAAAAAAAAAAAAAACACAC	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding		465		chr21	TogoVar
POU2F3_chr11_120235140_120324945	120316666	C C	CCACAGCT others(24): Show CCACAGCTTATCTCCCAAGTCTGGCTTACCGG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	320	0.0031	31	c.113 others(48): Show c.1136-562_1136-561insACAGCTTATCTCCCAAGTCTGGCTTACC GGC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU6F2_chr7_38972909_39473601	39015306	T T	TATATATA others(24): Show TATATATAATAATAGATATAATATATATTATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG02630.hp1 others(5): Show HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02922.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0005t0001 a0001c0005t0026	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0002g0003 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0002g0003 a0001c0001t0004g0001 a0001c0001t0004g0093 a0001c0005t0001g0002 a0001c0005t0001g0005 a0001c0005t0026g0007	8	170	0.0471	31	c.105 others(50): Show c.105+37268_105+37298dupATATATATTATAATATATAATAATAG ATATA	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar

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Search Results (Total: 5228 hits)