Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
PDXK_chr21_43714129_43767299	43741419	G G	GGGGGGGC others(93): Show GGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTGG C	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	358	0.0028	100	c.143 others(115): Show c.143-220_143-219insCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCT CGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43743128	A A	ATGGGGAC others(93): Show ATGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCAGCTCCTGAGCAC TATGGGGACACCTCGCCTGCATCCACCTCCCTCCCCCCGCCCCCAGCACT G	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0064 a0001c0002t0064	a0001c0002t0064g0169 a0001c0002t0064g0169	1	358	0.0028	100	c.248 others(115): Show c.248-553_248-454dupTGAGCACTATGGGGACACCTCGCCTGCATC CACCTCCCTCCCCCCGCCCCCAGCACTGTGGGGACACCTCGCCTGCACCC ACCTCCCTCCCCCCAGCTCC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	32036951	G G	GCCCTGGT others(93): Show GCCCTGGTTCCATGCTGCGCAGTGAGACGTGTGCTGAGGAGGACTGGGGG CCCCTGGTTCCATGCTGGGCGGTGAGACGCGTGCTGAGGAGGACTGGGGG C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0077 a0001c0026t0002g0077	1	216	0.0046	100	c.140 others(117): Show c.1408-188_1408-187insCTGGGGGCCCCTGGTTCCATGCTGCGCA GTGAGACGTGTGCTGAGGAGGACTGGGGGCCCCTGGTTCCATGCTGGGCG GTGAGACGCGTGCTGAGGAGGA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(93): Show TTCTCTCTCTCTCTCTCTCTCCCCCCTCTCTCCCTCTCTCTCTCTCTCTC TCCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCTCCCTCTCCCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0008	1	426	0.0024	100	c.48 others(111): Show c.4863_*4864insGAGGGAGAGGGAGAGGGAGGGGGAGGGGGGAGGG GGAGGGGGAGGGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGGAGA GAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(93): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0024	100	c.48 others(111): Show c.4863_*4864insGAGAGAGGGAGAGGGAGAGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGGGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAGA GAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(93): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTCC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0024	100	c.48 others(111): Show c.4863_*4864insGGGAGAGGGAGAGGGAGAGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAGA GAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(93): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00558.hp2 others(60): Show HG00140.hp1 HG00438.hp1 HG00558.hp2 HG00735.hp2 HG01099.hp1 HG01123.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02071.hp2 HG02148.hp2 HG02257.hp1 HG02300.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG03704.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18939.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp2 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18980.hp1 NA18982.hp1 NA18990.hp2 NA18999.hp1 NA19002.hp1 NA19005.hp1 NA19006.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19055.hp1 NA19065.hp2 NA19072.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0065 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0002g0011 a0001c0002t0001g0005 a0002c0003t0001g0008	63	426	0.1479	100	c.48 others(111): Show c.4863_*4864insGAGAGAGGGAGAGGGAGAGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAGA GAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(93): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTCTCTCTCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	426	0.0024	100	c.48 others(111): Show c.4863_*4864insGAGAGAGAGAGAGGGAGAGGGAGAGGGAGGGGGA GGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAGA GAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(93): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCTCTCCCTCTCCCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	426	0.0024	100	c.48 others(111): Show c.4863_*4864insGAGGGAGAGGGAGAGGGGAGGGGGAGGAGGGGGA GGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAGA GAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(93): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	426	0.0024	100	c.48 others(111): Show c.4863_*4864insGAGAGGGAGAGGGAGAGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAGA GAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(93): Show TTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCTGTCTCTCTCTCTCTCTCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	426	0.0024	100	c.48 others(111): Show c.4863_*4864insGAGAGAGAGAGAGAGAGACAGAGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGGGAGAGAGGGGGAGAGA GAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(93): Show TTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCC CCCTCCCCCTCCCCCTCCCCCTCTCTGTCTCTCTCTCTCTCTCTCTCTCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	426	0.0024	100	c.48 others(111): Show c.4863_*4864insGAGAGAGAGAGAGAGAGAGAGAGACAGAGAGGGG GAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGGGAGAGAGGGGGAGAGA GAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PERM1_chr1_970198_987093	977404	T T	TCCCCCCG others(93): Show TCCCCCCGCACCCGGAACCGCCCACCACACCCCCCACCCCGAACCGCCTC CCACTCCCCCCCGCAACCCCGGAACCGCCTCCCACTCCCCCACCCGAACC C	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0092 a0001c0007t0001g0092	1	408	0.0025	100	c.215 others(117): Show c.2150-781_2150-780insGGGTTCGGGTGGGGGAGTGGGAGGCGGT TCCGGGGTTGCGGGGGGGAGTGGGAGGCGGTTCGGGGTGGGGGGTGTGGT GGGCGGTTCCGGGTGCGGGGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PFKFB3_chr10_6197932_6240532	6210533	T T	TGTGTTTT others(93): Show TGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGAT A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG02165.hp2 others(1): Show HG00408.hp2 HG00423.hp2 HG02165.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 others(1): Show a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0002g0240	4	432	0.0093	100	c.77- others(115): Show c.77-3000_77-2999insGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210574	A A	AGTCTTGA others(93): Show AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT G	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA19082.hp2 HG03017.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0306 a0001c0001t0024g0402 a0001c0001t0001g0306 a0001c0001t0024g0402	2	432	0.0046	100	c.77- others(115): Show c.77-3000_77-2999insGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210774	A A	AGTCTTGA others(93): Show AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT G	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	432	0.0023	100	c.77- others(115): Show c.77-2800_77-2799insGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210915	A A	AGCCAGGA others(93): Show AGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTT GGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCACCATGTT G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	432	0.0023	100	c.77- others(115): Show c.77-2700_77-2699insGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTGGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCACCATGTTGGCCAGGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085819	C C	CACCCCCC others(93): Show CACCCCCCTCCCCAGGAGAGTCCTCCACCCCCTCCCCAGCACTGTCCTCC ACCCTGGGCCAAAGCACTGTCCTCCACCCTGGGCCAAAGCATTGTCCTCC G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0330 a0001c0005t0002g0330	1	402	0.0025	100	c.186 others(117): Show c.186+3358_186+3359insACCCCCCTCCCCAGGAGAGTCCTCCACC CCCTCCCCAGCACTGTCCTCCACCCTGGGCCAAAGCACTGTCCTCCACCC TGGGCCAAAGCATTGTCCTCCG	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21			chr10	TogoVar
PGAM5_chr12_132705842_132727734	132727606	C C	CGCACTGC others(93): Show CGCACTGCTGAACCCTGGCACCGTGGGCACACGCGCCCGGGCGGAGGAGA GGCACTGCTGAACCCTGGCACCGTGGGCACACGCGCCCGGATGGAGGAGA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0147 a0001c0001t0022g0147	1	394	0.0025	100	c.67 others(111): Show c.6778_*6779insGCACTGCTGAACCCTGGCACCGTGGGCACACGCG CCCGGGCGGAGGAGAGGCACTGCTGAACCCTGGCACCGTGGGCACACGCG CCCGGATGGAGGAGAT	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding		4873		chr12	TogoVar
PHACTR3_chr20_59599540_59852711	59821980	G G	GATCCCAC others(93): Show GATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCC CTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGC A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0151 a0005c0006t0001g0151	1	250	0.0040	100	c.132 others(121): Show c.1329-14486_1329-14485insAATCCCACCCCTTCCCCAGCAATC CCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCCCTTC CCCAGCAATCCCACCCCTTCCCCAGC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59821980	G G	GATCCCAC others(93): Show GATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCC CTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGC A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	250	0.0040	100	c.132 others(121): Show c.1329-14486_1329-14485insAATCCCACCCCTTCCCCAGCGATC CCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCAATCCCACCCCTTC CCCAGCAATCCCACCCCTTCCCCAGC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59821980	G G	GATCCCAC others(93): Show GATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCAATCCCACCC CTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGC A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	250	0.0040	100	c.132 others(121): Show c.1329-14506_1329-14505insGATCCCACCCCTTCCCCAGCAATC CCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTC CCCAGCAATCCCACCCCTTCCCCAGC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59822000	A A	AATCCCAC others(93): Show AATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCC CTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGC G	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19065.hp2 NA19084.hp2 NA18939.hp2 NA19065.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0034 a0001c0001t0001g0063 a0001c0001t0003g0135 a0001c0001t0001g0034 a0001c0001t0001g0063 a0001c0001t0003g0135	3	250	0.0120	100	c.132 others(121): Show c.1329-14486_1329-14485insAATCCCACCCCTTCCCCAGCAATC CCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCCCTTC CCCAGCGATCCCACCCCTTCCCCAGC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59822000	A A	AATCCCAC others(93): Show AATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCGATCCCACCC CTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGC G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp1 HG02615.hp1 others(1): Show HG01255.hp2 HG02109.hp1 HG02615.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0007 a0001c0003t0018	a0001c0001t0001g0098 a0001c0001t0004g0199 a0001c0003t0007g0087 others(1): Show a0001c0001t0001g0098 a0001c0001t0004g0199 a0001c0003t0007g0087 a0001c0003t0018g0065	4	250	0.0160	100	c.132 others(121): Show c.1329-14486_1329-14485insAATCCCACCCCTTCCCCAGCGATC CCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTC CCCAGCGATCCCACCCCTTCCCCAGC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHEX_chrX_22027325_22256310	22224947	A A	AATTATCA others(93): Show AATTATCATACAGCGCTGTATGATTTATTATCATACAGCGCTGTATGATT TATTATCATACAGCGCTGTATGATTTATTATCATACAGCGCTGTATGATT T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG01099.hp1 others(47): Show HG00423.hp2 HG00673.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG02015.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02293.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG03225.hp1 HG03492.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18939.hp1 NA18942.hp1 NA18945.hp1 NA18955.hp1 NA18984.hp1 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19056.hp1 NA19060.hp1 NA19068.hp1 NA19077.hp2 NA19083.hp1 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0035 a0001c0001t0036 a0001c0001t0053 a0001c0001t0063 a0001c0001t0065 a0001c0001t0071 a0001c0001t0086 a0001c0001t0088 a0001c0001t0089 a0001c0001t0091 a0001c0001t0092 a0001c0001t0096 a0001c0001t0097 a0001c0001t0114 a0001c0001t0116 a0001c0001t0118 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0135 a0001c0001t0152 a0001c0001t0154 a0001c0001t0163 a0001c0002t0087 a0004c0006t0140	a0001c0001t0001g0137 a0001c0001t0001g0162 a0001c0001t0001g0188 others(47): Show a0001c0001t0001g0137 a0001c0001t0001g0162 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0219 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0109 a0001c0001t0003g0055 a0001c0001t0004g0186 a0001c0001t0005g0159 a0001c0001t0006g0051 a0001c0001t0008g0216 a0001c0001t0010g0049 a0001c0001t0010g0065 a0001c0001t0010g0100 a0001c0001t0011g0154 a0001c0001t0011g0192 a0001c0001t0012g0066 a0001c0001t0019g0071 a0001c0001t0020g0015 a0001c0001t0020g0040 a0001c0001t0027g0143 a0001c0001t0035g0142 a0001c0001t0036g0145 a0001c0001t0053g0205 a0001c0001t0063g0221 a0001c0001t0065g0173 a0001c0001t0071g0179 a0001c0001t0086g0106 a0001c0001t0088g0099 a0001c0001t0089g0150 a0001c0001t0091g0086 a0001c0001t0092g0112 a0001c0001t0096g0068 a0001c0001t0097g0053 a0001c0001t0114g0007 a0001c0001t0116g0067 a0001c0001t0118g0029 a0001c0001t0121g0117 a0001c0001t0122g0048 a0001c0001t0123g0038 a0001c0001t0124g0121 a0001c0001t0125g0073 a0001c0001t0135g0118 a0001c0001t0152g0018 a0001c0001t0154g0009 a0001c0001t0163g0102 a0001c0002t0087g0036 a0004c0006t0140g0123	50	231	0.2165	100	c.190 others(119): Show c.1900-1458_1900-1457insGCTGTATGATTTATTATCATACAGCG CTGTATGATTTATTATCATACAGCGCTGTATGATTTATTATCATACAGCG CTGTATGATTTATTATCATACAGC	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	18/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
PHEX_chrX_22027325_22256310	22224947	A A	AATTATCA others(93): Show AATTATCATACAGCGCTGTATGATTTATTATCATACAGTGCTGTATGATT TATTATCATACAGCGCTGTATGATTTATTATCATACAGCGCTGTATGATT T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0013 a0001c0001t0021g0014 a0001c0001t0021g0013 a0001c0001t0021g0014	2	231	0.0087	100	c.190 others(119): Show c.1900-1459_1900-1458insTGCTGTATGATTTATTATCATACAGC GCTGTATGATTTATTATCATACAGCGCTGTATGATTTATTATCATACAGC GCTGTATGATTTATTATCATACAG	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	18/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
PHEX_chrX_22027325_22256310	22224960	C C	CGCTGTAT others(93): Show CGCTGTATGATTTATTATCATACAGCGCTGTATGATTTATTATCATACAG CGCTGTATGATTTATTATCATACAGCGCTGTATGATTTATTATCATACAG T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03041.hp1 HG01070.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0129 a0001c0001t0161 a0001c0001t0129 a0001c0001t0161	a0001c0001t0129g0069 a0001c0001t0161g0011 a0001c0001t0129g0069 a0001c0001t0161g0011	2	231	0.0087	100	c.190 others(119): Show c.1900-1458_1900-1457insGCTGTATGATTTATTATCATACAGCG CTGTATGATTTATTATCATACAGCGCTGTATGATTTATTATCATACAGTG CTGTATGATTTATTATCATACAGC	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	18/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
PIBF1_chr13_72777133_73021461	72927996	C C	CATATATA others(93): Show CATATATATATACATATATATACATATATATACATATATATATATATACA TATATATATACATATATATACATATATATACATATATATATATATATACA T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	346	0.0029	100	c.173 others(119): Show c.1731-3160_1731-3159insTACATATATATACATATATATACATA TATATATATATACATATATATATACATATATATACATATATATACATATA TATATATATATACATATATATATA	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72928028	T T	TATATATA others(93): Show TATATATATATACATATATATACATATATATATATATACATATATATACA TATATATATATATACATATATATACATATATATATATATACATATATATA C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	346	0.0029	100	c.173 others(119): Show c.1731-3126_1731-3125insCATATATATACATATATATATATATA CATATATATACATATATATATATATACATATATATACATATATATATATA TACATATATATACATATATATATA	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIK3R1_chr5_68210756_68306821	68262807	G G	GTAGATGC others(93): Show GTAGATGCATGTAGATACATGTATACATATATACATGTAGATACATGTAG ATACATGTGTACATATATACATGTAGATGCATGTAGATACATGTGTACAT A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0017 a0001c0001t0103g0017	1	308	0.0033	100	c.335 others(119): Show c.335-10581_335-10580insGATGCATGTAGATACATGTATACATA TATACATGTAGATACATGTAGATACATGTGTACATATATACATGTAGATG CATGTAGATACATGTGTACATATA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262807	G G	GTAGATGC others(93): Show GTAGATGCATGTAGATACATGTATACATATATACATGTAGATGCATGTAG ATACATGTATACATATATACATGTAGATGCATGTAGATACATGTATACAT A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0067 a0002c0003t0012g0067	1	308	0.0033	100	c.335 others(119): Show c.335-10581_335-10580insGATGCATGTAGATACATGTATACATA TATACATGTAGATGCATGTAGATACATGTATACATATATACATGTAGATG CATGTAGATACATGTATACATATA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262807	G G	GTAGATGC others(93): Show GTAGATGCATGTAGATACATGTATACATATATACATGTAGATGCATGTAG ATACATGTGTACATATATACATGTAGATGCATGTAGATACATGTGTACAT A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00609.hp1 others(34): Show HG00140.hp2 HG00408.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00741.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp1 HG01361.hp1 HG01433.hp2 HG02056.hp1 HG02071.hp1 HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG03239.hp1 HG03704.hp1 HG04199.hp1 NA18906.hp2 NA18957.hp1 NA18964.hp1 NA18964.hp2 NA18984.hp2 NA19004.hp1 NA19010.hp1 NA19064.hp1 NA19079.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0009 a0001c0012 a0001c0013 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0016 a0001c0001t0101 a0001c0001t0102 a0001c0001t0116 a0001c0001t0121 a0001c0001t0160 a0001c0002t0001 a0001c0002t0007 a0001c0002t0105 a0001c0002t0141 a0001c0005t0003 a0001c0005t0006 a0001c0005t0036 a0001c0005t0072 a0001c0005t0086 a0001c0005t0089 a0001c0005t0093 a0001c0006t0006 a0001c0006t0059 a0001c0006t0075 a0001c0009t0099 a0001c0012t0164 a0001c0013t0010 a0001c0013t0013 a0002c0003t0003 a0002c0003t0017 a0002c0003t0033 a0002c0004t0003 a0002c0004t0030 a0002c0004t0031 a0002c0004t0175	a0001c0001t0001g0050 a0001c0001t0002g0027 a0001c0001t0010g0018 others(34): Show a0001c0001t0001g0050 a0001c0001t0002g0027 a0001c0001t0010g0018 a0001c0001t0016g0078 a0001c0001t0101g0008 a0001c0001t0102g0058 a0001c0001t0116g0262 a0001c0001t0121g0069 a0001c0001t0160g0052 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0155 a0001c0002t0001g0175 a0001c0002t0007g0199 a0001c0002t0105g0121 a0001c0002t0141g0156 a0001c0005t0003g0024 a0001c0005t0006g0038 a0001c0005t0036g0040 a0001c0005t0072g0039 a0001c0005t0086g0084 a0001c0005t0089g0106 a0001c0005t0093g0171 a0001c0006t0006g0222 a0001c0006t0059g0211 a0001c0006t0075g0149 a0001c0009t0099g0070 a0001c0012t0164g0235 a0001c0013t0010g0288 a0001c0013t0013g0287 a0002c0003t0003g0261 a0002c0003t0017g0071 a0002c0003t0033g0270 a0002c0004t0003g0154 a0002c0004t0030g0239 a0002c0004t0031g0237 a0002c0004t0175g0296	37	308	0.1201	100	c.335 others(119): Show c.335-10581_335-10580insGATGCATGTAGATACATGTATACATA TATACATGTAGATGCATGTAGATACATGTGTACATATATACATGTAGATG CATGTAGATACATGTGTACATATA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262807	G G	GTAGATGC others(93): Show GTAGATGCATGTAGATACATGTGTACATATATACATGTAGATGCATGTAG ATACATGTGTACATATATACATGTAGATGCATGTAGATACATGTGTACAT A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18967.hp1 NA18960.hp1 NA18967.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0081 a0001c0006t0006 a0001c0005t0081 a0001c0006t0006	a0001c0005t0081g0110 a0001c0006t0006g0126 a0001c0005t0081g0110 a0001c0006t0006g0126	2	308	0.0065	100	c.335 others(119): Show c.335-10581_335-10580insGATGCATGTAGATACATGTGTACATA TATACATGTAGATGCATGTAGATACATGTGTACATATATACATGTAGATG CATGTAGATACATGTGTACATATA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262807	G G	GTAGATGC others(93): Show GTAGATGCATGTAGATACGTGTATACATATATACATGTAGATGCATGTAG ATACATGTATACATATATACATGTAGATGCATGTAGATACATGTATACAT A	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0117 a0001c0002t0117	a0001c0002t0117g0204 a0001c0002t0117g0204	1	308	0.0033	100	c.335 others(119): Show c.335-10581_335-10580insGATGCATGTAGATACGTGTATACATA TATACATGTAGATGCATGTAGATACATGTATACATATATACATGTAGATG CATGTAGATACATGTATACATATA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262807	G G	GTAGATGC others(93): Show GTAGATGCATGTAGATACGTGTATACATATATACATGTAGATGCATGTAG ATACATGTGTACATATATACATGTAGATGCATGTAGATACATGTGTACAT A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0163 a0001c0006t0003g0164 a0001c0006t0003g0163 a0001c0006t0003g0164	2	308	0.0065	100	c.335 others(119): Show c.335-10581_335-10580insGATGCATGTAGATACGTGTATACATA TATACATGTAGATGCATGTAGATACATGTGTACATATATACATGTAGATG CATGTAGATACATGTGTACATATA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262899	A A	ATATACAT others(93): Show ATATACATGTAGATGCATGTAGATACATGTGTACATATATACATGTAGAT GCATGTAGATACATGTGTACATATATACATGTAGATGCATGTAGATACAT G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0018 a0001c0005t0018	a0001c0005t0018g0099 a0001c0005t0018g0099	1	308	0.0033	100	c.335 others(119): Show c.335-10478_335-10477insGCATGTAGATACATGTGTACATATAT ACATGTAGATGCATGTAGATACATGTGTACATATATACATGTAGATGCAT GTAGATACATGTATACATGTAGAT	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R5_chr17_8873916_8970707	8925106	G G	GGATAGAT others(93): Show GGATAGATAGATAGTAGATGGATAGATAGATAGTAGATGAATAGATAGCT AGATAGTAGATGGATAGATGGGTAGATAGATAGACAGAAAGTAGATGGAT A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02723.hp2 others(1): Show HG02280.hp2 HG02486.hp1 HG02723.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0148 a0001c0005t0001g0030 a0001c0005t0001g0136 others(1): Show a0001c0001t0001g0148 a0001c0005t0001g0030 a0001c0005t0001g0136 a0001c0005t0001g0272	4	298	0.0134	100	c.-13 others(119): Show c.-13-13699_-13-13600dupTATCCATCTACTTTCTGTCTATCTAT CTACCCATCTATCCATCTACTATCTAGCTATCTATTCATCTACTATCTAT CTATCCATCTACTATCTATCTATC	PIK3R5	ENSG00000141506.15	transcript	ENST00000447110.6	protein_coding	1/18			chr17	TogoVar
PIP5K1C_chr19_3625183_3705468	3649230	G G	GCCCAGCG others(93): Show GCCCAGCGCGGGAGTTAACTGTCACCCGGCACCATGCCCACACGTCCCCT GCCCAGCGCGGGAGTTAACTGTCACCCGGCACCATGCCCACACGTCCCCT A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	332	0.0030	100	c.112 others(117): Show c.1128-523_1128-522insTAGGGGACGTGTGGGCATGGTGCCGGGT GACAGTTAACTCCCGCGCTGGGCAGGGGACGTGTGGGCATGGTGCCGGGT GACAGTTAACTCCCGCGCTGGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649263	A A	ATGCCCAC others(93): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0288 a0001c0002t0003g0288	1	332	0.0030	100	c.112 others(117): Show c.1128-655_1128-556dupCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649381	C C	CCCAGCGC others(93): Show CCCAGCGCGGGAGTTAACTGTCACCCGGCACCGTGCCCACACGTCCCCTG CCCAGCGCGGGAGTTAACTGTCACCCGGCACCGTGCCCACACGTCCCCTG T	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0224 a0001c0001t0004g0224	1	332	0.0030	100	c.112 others(117): Show c.1128-674_1128-673insACAGGGGACGTGTGGGCACGGTGCCGGG TGACAGTTAACTCCCGCGCTGGGCAGGGGACGTGTGGGCACGGTGCCGGG TGACAGTTAACTCCCGCGCTGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649417	C C	CCACACGT others(93): Show CCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACCGTGC CCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACCGTGC T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02965.hp1 others(2): Show HG02451.hp1 HG02486.hp2 HG02965.hp1 HG03130.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0045 a0001c0001t0010 a0001c0001t0045	a0001c0001t0010g0058 a0001c0001t0010g0059 a0001c0001t0010g0061 others(2): Show a0001c0001t0010g0058 a0001c0001t0010g0059 a0001c0001t0010g0061 a0001c0001t0010g0062 a0001c0001t0045g0270	5	332	0.0151	100	c.112 others(117): Show c.1128-710_1128-709insAGCACGGTGCCGGGTGACAGTTAACTCC CGCGCTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCC CGCGCTGGGCAGGGGACGTGTG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PLCG2_chr16_81774291_81967685	81776079	C C	CTCGTTCT others(93): Show CTCGTTCTTTCTTTCTTTCTTGCTTGCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0057	1	330	0.0030	100	c.-33 others(111): Show c.-3393_-3392insTCGTTCTTTCTTTCTTTCTTGCTTGCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTTTTTCTTTTTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding		3211		chr16	TogoVar
PLCG2_chr16_81774291_81967685	81776079	C C	CTCGTTCT others(93): Show CTCGTTCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0052 a0001c0004t0003g0052	1	330	0.0030	100	c.-33 others(111): Show c.-3393_-3392insTCGTTCTTTCTTTCTTTCTTGCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTTTTTCTTTTTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding		3211		chr16	TogoVar
PLCG2_chr16_81774291_81967685	81776079	C C	CTCGTTCT others(93): Show CTCGTTCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTTTTTCT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0005 a0001c0016t0005	a0001c0016t0005g0210 a0001c0016t0005g0210	1	330	0.0030	100	c.-33 others(111): Show c.-3393_-3392insTCGTTCTTTCTTTCTTTCTTGCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TTTTTCTTTTTTTCTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding		3211		chr16	TogoVar
PLCXD1_chrX_276381_308356	280476	G G	GGGGGGCC others(93): Show GGGGGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCCGT GCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGCGGAG C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0059 a0001c0001t0027g0059	1	176	0.0057	100	c.-12 others(111): Show c.-1230_-1229insGGGGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGG GGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAA GACGTGCAGGCGGAGC	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		904		chrX	TogoVar
PLEKHG4B_chr5_87168_194966	194146	A A	ACTGTCCT others(93): Show ACTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(70): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01515.hp1 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG02004.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG03017.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03491.hp1 HG03579.hp1 HG03669.hp1 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp2 NA18906.hp1 NA18954.hp1 NA18954.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18984.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19066.hp1 NA19068.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0006 a0008 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0022 a0026 a0030 a0036 a0039 a0040 a0041	a0001c0001 a0001c0015 a0001c0052 others(32): Show a0001c0001 a0001c0015 a0001c0052 a0002c0003 a0002c0005 a0002c0039 a0002c0057 a0003c0009 a0003c0056 a0004c0006 a0004c0041 a0004c0043 a0004c0054 a0006c0068 a0008c0024 a0008c0025 a0008c0079 a0011c0023 a0012c0013 a0014c0027 a0014c0065 a0014c0066 a0015c0076 a0016c0018 a0017c0030 a0018c0022 a0019c0019 a0021c0026 a0022c0046 a0026c0050 a0030c0047 a0036c0075 a0039c0062 a0040c0063 a0041c0064	a0001c0001t0027 a0001c0015t0035 a0001c0015t0076 others(59): Show a0001c0001t0027 a0001c0015t0035 a0001c0015t0076 a0001c0052t0118 a0002c0003t0002 a0002c0003t0011 a0002c0003t0066 a0002c0003t0071 a0002c0003t0124 a0002c0003t0130 a0002c0003t0132 a0002c0003t0135 a0002c0003t0136 a0002c0005t0002 a0002c0005t0003 a0002c0005t0070 a0002c0005t0072 a0002c0005t0075 a0002c0005t0127 a0002c0005t0129 a0002c0039t0009 a0002c0057t0003 a0003c0009t0017 a0003c0009t0119 a0003c0009t0120 a0003c0009t0121 a0003c0056t0017 a0004c0006t0002 a0004c0006t0003 a0004c0006t0065 a0004c0006t0123 a0004c0006t0125 a0004c0006t0134 a0004c0041t0003 a0004c0043t0126 a0004c0054t0034 a0006c0068t0058 a0008c0024t0021 a0008c0025t0069 a0008c0079t0068 a0011c0023t0041 a0011c0023t0044 a0012c0013t0009 a0012c0013t0133 a0014c0027t0049 a0014c0065t0038 a0014c0066t0051 a0015c0076t0067 a0016c0018t0003 a0016c0018t0034 a0017c0030t0039 a0018c0022t0011 a0019c0019t0010 a0019c0019t0062 a0021c0026t0060 a0022c0046t0047 a0026c0050t0009 a0030c0047t0131 a0036c0075t0061 a0039c0062t0010 a0040c0063t0063 a0041c0064t0010	a0001c0001t0027g0052 a0001c0001t0027g0053 a0001c0015t0035g0122 others(70): Show a0001c0001t0027g0052 a0001c0001t0027g0053 a0001c0015t0035g0122 a0001c0015t0076g0154 a0001c0052t0118g0121 a0002c0003t0002g0098 a0002c0003t0002g0101 a0002c0003t0002g0132 a0002c0003t0011g0210 a0002c0003t0066g0209 a0002c0003t0071g0095 a0002c0003t0124g0017 a0002c0003t0130g0130 a0002c0003t0132g0028 a0002c0003t0135g0128 a0002c0003t0136g0071 a0002c0005t0002g0064 a0002c0005t0003g0031 a0002c0005t0003g0096 a0002c0005t0003g0167 a0002c0005t0070g0100 a0002c0005t0072g0153 a0002c0005t0075g0076 a0002c0005t0127g0124 a0002c0005t0129g0043 a0002c0039t0009g0030 a0002c0057t0003g0026 a0003c0009t0017g0088 a0003c0009t0017g0093 a0003c0009t0119g0049 a0003c0009t0120g0013 a0003c0009t0121g0092 a0003c0056t0017g0080 a0004c0006t0002g0051 a0004c0006t0002g0065 a0004c0006t0002g0119 a0004c0006t0003g0047 a0004c0006t0065g0208 a0004c0006t0123g0003 a0004c0006t0125g0048 a0004c0006t0134g0011 a0004c0041t0003g0077 a0004c0043t0126g0099 a0004c0054t0034g0139 a0006c0068t0058g0194 a0008c0024t0021g0175 a0008c0024t0021g0176 a0008c0025t0069g0174 a0008c0079t0068g0173 a0011c0023t0041g0184 a0011c0023t0044g0187 a0012c0013t0009g0016 a0012c0013t0009g0019 a0012c0013t0133g0118 a0014c0027t0049g0171 a0014c0065t0038g0166 a0014c0066t0051g0170 a0015c0076t0067g0192 a0016c0018t0003g0005 a0016c0018t0034g0004 a0017c0030t0039g0140 a0018c0022t0011g0195 a0018c0022t0011g0196 a0019c0019t0010g0164 a0019c0019t0062g0191 a0021c0026t0060g0169 a0022c0046t0047g0180 a0026c0050t0009g0141 a0030c0047t0131g0067 a0036c0075t0061g0178 a0039c0062t0010g0165 a0040c0063t0063g0189 a0041c0064t0010g0190	73	210	0.3476	100	c.11 others(113): Show c.11823_*11824insCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCT GCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCT GCTTTCTGAGCTGACATT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding		4181		chr5	TogoVar
PLEKHN1_chr1_961482_980865	977404	T T	TCCCCCCG others(93): Show TCCCCCCGCACCCGGAACCGCCCACCACACCCCCCACCCCGAACCGCCTC CCACTCCCCCCCGCAACCCCGGAACCGCCTCCCACTCCCCCACCCGAACC C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0001 a0001c0044t0001	a0001c0044t0001g0001 a0001c0044t0001g0001	1	422	0.0024	100	c.28 others(111): Show c.2829_*2830insCCCCCCGCACCCGGAACCGCCCACCACACCCCCC ACCCCGAACCGCCTCCCACTCCCCCCCGCAACCCCGGAACCGCCTCCCAC TCCCCCACCCGAACCC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1540		chr1	TogoVar
PLIN1_chr15_89659367_89684367	89663911	G G	GCCAGGGC others(93): Show GCCAGGGCCACAGAGTCAGCTCCAGGGCCACAGAGTCAGCGCCAGGGCCA CAGAGTCAGCTCCAGGGCCACAGAGTCAGTGCCAGGGCCACAGAGTCAGT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02895.hp1 HG02896.hp2 HG02109.hp2 HG02895.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316	3	460	0.0065	100	c.16 others(111): Show c.1671_*1672insAACTGACTCTGTGGCCCTGGCACTGACTCTGTGG CCCTGGAGCTGACTCTGTGGCCCTGGCGCTGACTCTGTGGCCCTGGAGCT GACTCTGTGGCCCTGG	PLIN1	ENSG00000166819.12	transcript	ENST00000300055.10	protein_coding		455		chr15	TogoVar
PLVAP_chr19_17346455_17382342	17349175	T T	TCTTTCTT others(93): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	436	0.0023	100	c.31 others(111): Show c.3186_*3187insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAG	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2279		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17349191	T T	TCTTTCTT others(93): Show TCTTTCTTTCTTTCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0405 a0001c0001t0001g0405	1	436	0.0023	100	c.31 others(111): Show c.3170_*3171insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GAAGAAAGAAAGAAAG	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2263		chr19	TogoVar

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Search Results (Total: 10000 hits)