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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0045 a0002c0011t0045	a0002c0011t0045g0206 a0002c0011t0045g0206	1	328	0.0031	44	c.858 others(61): Show c.858+2796_858+2797insAAAAAAAAAAAAAAAAAAAATATATATA TATATATATATATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE7B_chr6_135846701_136200574	135934825	A A	ATAAATAA others(37): Show ATAAATAAATATATATATTTATTTAAATAAATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp1 HG03209.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0035 a0001c0001t0033 a0001c0001t0035	a0001c0001t0033g0055 a0001c0001t0035g0054 a0001c0001t0033g0055 a0001c0001t0035g0054	2	142	0.0141	44	c.22- others(61): Show c.22-12601_22-12600insTTTATTTAAATAAATATATATATTTATT TAAATAAATATATATA		PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	135934863	A A	ATTTATTT others(37): Show ATTTATTTAAATAAATATATATAAAAATATATATAAATATTTATT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18906.hp2 HG03540.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0004 a0001c0006 a0003c0004	a0001c0006t0028 a0003c0004t0013 a0001c0006t0028 a0003c0004t0013	a0001c0006t0028g0032 a0003c0004t0013g0108 a0001c0006t0028g0032 a0003c0004t0013g0108	2	142	0.0141	44	c.22- others(61): Show c.22-12601_22-12600insTTTATTTAAATAAATATATATAAAAATA TATATAAATATTTATT		PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12						chr6	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	324	0.0031	44	c.263 others(61): Show c.263-5145_263-5144insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTT		PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFA_chr7_492258_524846	511319	G G	GGGCCAGT others(37): Show GGGCCAGTGGCTGGGGGTGGGGAGAGGGGAACTTAGTCCAGGTGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp1 HG02922.hp1 HG02622.hp1 HG02717.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0132 a0001c0001t0043 a0001c0001t0132	a0001c0001t0043g0277 a0001c0001t0043g0278 a0001c0001t0132g0276 a0001c0001t0043g0277 a0001c0001t0043g0278 a0001c0001t0132g0276	3	302	0.0099	44	c.266 others(59): Show c.266-324_266-323insGCACCTGGACTAAGTTCCCCTCTCCCCACC CCCAGCCACTGGCC		PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	3/5						chr7	TogoVar
PDGFA_chr7_492258_524846	512266	C C	CACCCGGC others(37): Show CACCCGGCCCTGCCCTGCCCATCGCGGCCTCCTGGACTCACCCCG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0076 a0001c0002t0008g0076	1	302	0.0033	44	c.265 others(57): Show c.265+84_265+85insCGGGGTGAGTCCAGGAGGCCGCGATGGGCAGG GCAGGGCCGGGT		PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	3/5						chr7	TogoVar
PDHX_chr11_34911618_35001128	34964773	A A	ATATTAGC others(37): Show ATATTAGCATAACTAATATTAGCTATTAGCATAACTAATATTAGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02109.hp2 others(13): Show HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp2 HG02486.hp1 HG02647.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG06807.hp2 NA18906.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0017 a0001c0026 a0002c0004 others(1): Show a0001c0017 a0001c0026 a0002c0004 a0002c0005	a0001c0017t0007 a0001c0026t0013 a0002c0004t0005 others(1): Show a0001c0017t0007 a0001c0026t0013 a0002c0004t0005 a0002c0005t0005	a0001c0017t0007g0144 a0001c0026t0013g0054 a0002c0004t0005g0007 others(8): Show a0001c0017t0007g0144 a0001c0026t0013g0054 a0002c0004t0005g0007 a0002c0005t0005g0007 a0002c0005t0005g0008 a0002c0005t0005g0026 a0002c0005t0005g0027 a0002c0005t0005g0263 a0002c0005t0005g0267 a0002c0005t0005g0268 a0002c0005t0005g0269	16	314	0.0510	44	c.642 others(61): Show c.642-1842_642-1799dupTTAGCATAACTAATATTAGCTATTAGCA TAACTAATATTAGCTA		PDHX	ENSG00000110435.13	transcript	ENST00000227868.9	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAGACAGA others(37): Show CAGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01099.hp1 HG01433.hp2 others(8): Show HG00280.hp1 HG01099.hp1 HG01433.hp2 HG02698.hp2 HG02735.hp1 HG03491.hp2 HG03688.hp1 HG03704.hp1 HG03942.hp1 NA19070.hp1 NA20752.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0011 a0001c0005t0003g0018 a0001c0005t0003g0140 others(5): Show a0001c0005t0003g0011 a0001c0005t0003g0018 a0001c0005t0003g0140 a0001c0005t0003g0146 a0001c0005t0003g0147 a0001c0005t0003g0148 a0001c0005t0003g0149 a0001c0005t0003g0151	11	342	0.0322	44	c.20- others(59): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTGTCTGT CTGTCTGTCTGTCT		PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12						chr2	TogoVar
PDLIM1_chr10_95232572_95296003	95256986	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0087 a0002c0003t0003g0087	1	338	0.0030	44	c.533 others(61): Show c.533+6834_533+6877dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT		PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6						chr10	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0088 a0001c0001t0026g0088	1	334	0.0030	44	c.313 others(61): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTT		PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34					INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	334	0.0030	44	c.313 others(61): Show c.313-2864_313-2863insATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTT		PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34					INFO_REALIGN_3_PRIME	chr13	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGCGGGGG others(37): Show GGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01256.hp1 HG00639.hp2 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0056 a0001c0001t0001 a0001c0001t0056	a0001c0001t0001g0105 a0001c0001t0056g0112 a0001c0001t0001g0105 a0001c0001t0056g0112	2	358	0.0056	44	c.143 others(59): Show c.143-497_143-496insCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCGGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGCGGGGG others(37): Show GGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0039 a0001c0001t0077g0039	1	358	0.0028	44	c.143 others(59): Show c.143-497_143-496insCTGGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCGGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741165	G G	GGGGGGCT others(37): Show GGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0010 a0001c0002t0003g0010	1	358	0.0028	44	c.143 others(59): Show c.143-497_143-496insCTCGCGGGGGGCTGGCGGGGGGCTCGCGGG GGGCTCGCAGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741268	G G	GGGGGGCT others(37): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	358	0.0028	44	c.143 others(59): Show c.143-394_143-393insCTCGCGGGGGGCTCGCGGGGGGGCTGGCGG GGGGCTCGCGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741280	G G	GGGGGGCT others(37): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0119 a0001c0001t0017g0119	1	358	0.0028	44	c.143 others(59): Show c.143-382_143-381insCTCGCGGGGGGCTCGCGGGGGGGCTGGCGG GGGGCTCGCGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741281	G G	GGGGGCTC others(37): Show GGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	358	0.0028	44	c.143 others(59): Show c.143-382_143-381insCTCGCGGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTCGCGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741395	G G	GGGGGGCT others(37): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	358	0.0028	44	c.143 others(59): Show c.143-267_143-266insCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741407	G G	GGGGGGGC others(37): Show GGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	358	0.0028	44	c.143 others(59): Show c.143-243_143-242insCTGGCGGGGGGCTGGCGGGGGGCTCGCGGG GGGCTCGCGGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGCT others(37): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	358	0.0028	44	c.143 others(59): Show c.143-220_143-219insCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATTTTTTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0022 a0003c0004t0003g0022	1	216	0.0046	44	c.-36 others(65): Show c.-361+49917_-361+49918insATATATATATATATATATATATAT ATATATTTTTTTTTTCTTTT		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32094030	A A	AAGTGGTT others(37): Show AAGTGGTTCATCATAAAGGGCTTCATCCTTGTCATCTTCACACTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0041 a0004c0041	a0004c0041t0031 a0004c0041t0031	a0004c0041t0031g0114 a0004c0041t0031g0114	1	216	0.0046	44	c.784 others(63): Show c.7845+1010_7845+1053dupGGTTCATCATAAAGGGCTTCATCCTT GTCATCTTCACACTGAGT		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	21/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD7_chr10_101002679_101036129	101018969	T T	TGAGGATG others(37): Show TGAGGATGACTGTGGGCCGCACGCTGCACCAGGTCTCCACCCGGC	frameshift_variant frameshift_variant	HIGH	NA18979.hp2 NA18979.hp2	a0014 a0014	a0014c0036 a0014c0036	a0014c0036t0001 a0014c0036t0001	a0014c0036t0001g0235 a0014c0036t0001g0235	1	432	0.0023	44	c.113 others(53): Show c.1133_1176dupGCCGGGTGGAGACCTGGTGCAGCGTGCGGCCCACAG TCATCCTC	p.Arg others(5): Show p.Arg393fs	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	8/17	1398/4112	1176/3102	392/1033			chr10	TogoVar
PEBP1_chr12_118131124_118150584	118133183	T T	TATATTTT others(37): Show TATATTTTCATCATTTCATTTCATTTCATCATTTCATTTCATTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	426	0.0024	44	c.-30 others(55): Show c.-3027_-3026insATATTTTCATCATTTCATTTCATTTCATCATTTC ATTTCATTTC		PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding					2940		chr12	TogoVar
PECAM1_chr17_64314415_64395860	64377617	A A	AAAGGAAG others(37): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00741.hp1 others(15): Show HG00408.hp1 HG00597.hp1 HG00741.hp1 HG01106.hp2 HG01257.hp1 HG01928.hp1 HG01975.hp2 HG02074.hp1 HG02083.hp1 HG02293.hp2 HG02717.hp1 HG03239.hp2 HG03491.hp2 HG03516.hp2 NA18956.hp2 NA18978.hp1 NA19007.hp1 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0006c0010t0001	a0001c0001t0001g0017 a0001c0001t0001g0096 a0001c0001t0001g0190 others(15): Show a0001c0001t0001g0017 a0001c0001t0001g0096 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0002g0016 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0238 a0001c0001t0004g0150 a0001c0001t0010g0195 a0001c0001t0011g0149 a0006c0010t0001g0244 a0006c0010t0001g0245	18	288	0.0625	44	c.385 others(59): Show c.385+206_385+207insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTT		PECAM1	ENSG00000261371.6	transcript	ENST00000563924.6	protein_coding	3/15						chr17	TogoVar
PEX5_chr12_7184686_7216459	7197222	A A	ATATATGT others(37): Show ATATATGTCATATATAATGTAATTATATATGTCATATGTAATAAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19059.hp2 NA19079.hp2 NA18962.hp1 NA19059.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0241 a0001c0001t0002g0276 a0001c0001t0002g0228 a0001c0001t0002g0241 a0001c0001t0002g0276	3	428	0.0070	44	c.449 others(61): Show c.449-1777_449-1776insATAATGTAATTATATATGTCATATGTAA TAATTATATGTCATAT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197394	A A	ATGTCATA others(37): Show ATGTCATATACAATGTAATATATATGTCATATACAATGTAATAAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	428	0.0023	44	c.449 others(61): Show c.449-1616_449-1615insGTCATATACAATGTAATATATATGTCAT ATACAATGTAATAATT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132717303	C C	CGGAGGAG others(37): Show CGGAGGAGGGGGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAGGGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19043.hp1 HG03471.hp2 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0056 a0001c0004t0009g0057 a0001c0004t0009g0056 a0001c0004t0009g0057	2	394	0.0051	44	c.371 others(58): Show c.371-126_371-83dupGGTGTTTGCGGGCGGAGGAGGGGGTGTTTGA GGGTGGAGGAGGG		PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132717313	G G	GGTGTTTG others(37): Show GGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAGGGTGGAGGAGGGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp1 others(67): Show HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG01255.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG02735.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03239.hp1 HG03486.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18960.hp1 NA18967.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18999.hp1 NA19000.hp2 NA19007.hp1 NA19010.hp1 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0038 a0001c0001t0041	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0015 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0002g0133 a0001c0001t0008g0042 a0001c0001t0008g0132 a0001c0001t0011g0023 a0001c0001t0025g0173 a0001c0001t0028g0001 a0001c0001t0029g0018 a0001c0001t0038g0042 a0001c0001t0041g0119	70	394	0.1777	44	c.371 others(57): Show c.371-82_371-39dupCGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAG GGTGGAGGAGGG		PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132717313	G G	GGTGTTTG others(37): Show GGTGTTTGTGGGCGGAGGAGGGGGTGTTTGAGGGTGGAGGAGGGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG00741.hp1 others(33): Show HG00597.hp1 HG00673.hp1 HG00741.hp1 HG01123.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01928.hp1 HG01978.hp1 HG01981.hp1 HG02027.hp2 HG02071.hp1 HG02083.hp2 HG02165.hp2 HG02300.hp1 HG02300.hp2 NA18942.hp1 NA18945.hp1 NA18950.hp2 NA18957.hp2 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18983.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19066.hp2 NA19068.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0023 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0039 a0001c0001t0040	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0041 others(12): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0041 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0008g0006 a0001c0001t0023g0002 a0001c0001t0024g0002 a0001c0001t0026g0142 a0001c0001t0039g0002 a0001c0001t0040g0122	36	394	0.0914	44	c.371 others(59): Show c.371-119_371-118insTGGGCGGAGGAGGGGGTGTTTGAGGGTGGA GGAGGGCGTGTTTG		PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAP6_chr16_365788_386978	369614	C C	CCCGACCT others(37): Show CCCGACCTGCTCTGCTCGCCTCCCCGACCTGCTCTGCTCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01069.hp2 others(23): Show HG00099.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp2 HG02280.hp2 HG02451.hp2 HG02602.hp2 HG02622.hp2 HG02886.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp2 HG03831.hp2 NA19240.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0005 a0010c0015	a0001c0001t0006 a0001c0004t0002 a0002c0002t0003 others(5): Show a0001c0001t0006 a0001c0004t0002 a0002c0002t0003 a0002c0002t0021 a0002c0005t0006 a0002c0005t0013 a0002c0005t0014 a0010c0015t0014	a0001c0001t0006g0013 a0001c0001t0006g0078 a0001c0004t0002g0040 others(13): Show a0001c0001t0006g0013 a0001c0001t0006g0078 a0001c0004t0002g0040 a0002c0002t0003g0005 a0002c0002t0003g0146 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0021g0112 a0002c0005t0006g0048 a0002c0005t0006g0049 a0002c0005t0006g0050 a0002c0005t0006g0052 a0002c0005t0013g0024 a0002c0005t0014g0167 a0010c0015t0014g0149	26	376	0.0692	44	c.23 others(55): Show c.2372_*2373insAGAGGCGAGCAGAGCAGGTCGGGGAGGCGAGCAG AGCAGGTCGG		PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding					1173		chr16	TogoVar
PGC_chr6_41731711_41752397	41738205	T T	TATATATA others(37): Show TATATATATACATATATATATGCATATATATACATATATATATAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	464	0.0022	44	c.916 others(59): Show c.916-378_916-377insGTATATATATATGTATATATATGCATATAT ATATGTATATATAT		PGC	ENSG00000096088.16	transcript	ENST00000373025.7	protein_coding	7/8						chr6	TogoVar
PGLYRP3_chr1_153292116_153317952	153297499	A A	AAAGGAAG others(37): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0074 a0001c0001t0086g0074	1	434	0.0023	44	c.41 others(53): Show c.413_*456dupCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT		PGLYRP3	ENSG00000159527.4	transcript	ENST00000683862.1	protein_coding	8/8				456		chr1	TogoVar
PGPEP1_chr19_18335598_18374950	18364083	G G	GCTTGCTT others(37): Show GCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0209 a0001c0001t0209	a0001c0001t0209g0124 a0001c0001t0209g0124	1	412	0.0024	44	c.50 others(53): Show c.503_*504insGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT		PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5				504	INFO_REALIGN_3_PRIME	chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18364103	T T	TCTTTCTT others(37): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTTCTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02922.hp2 HG02965.hp1 HG02615.hp2 HG02922.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0145 a0001c0001t0146 a0001c0001t0224 a0001c0001t0145 a0001c0001t0146 a0001c0001t0224	a0001c0001t0145g0178 a0001c0001t0146g0176 a0001c0001t0224g0071 a0001c0001t0145g0178 a0001c0001t0146g0176 a0001c0001t0224g0071	3	412	0.0073	44	c.53 others(53): Show c.531_*532insTCTTTCTTTCTTTCTTTCTTGCTTTCTTTCTTGCTT TCTTTCTT		PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5				532	INFO_REALIGN_3_PRIME	chr19	TogoVar
PHACTR1_chr6_12711767_13292837	13003963	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATGTATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	108	0.0093	44	c.251 others(63): Show c.251-49401_251-49400insATATATATATATATATATATATATGT ATATATATATATATATGT		PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59635169	C C	CTTTCTTT others(37): Show CTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	250	0.0040	44	c.118 others(63): Show c.118+30037_118+30038insTTTCTTTCCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT		PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12						chr20	TogoVar
PHF10_chr6_169698902_169729500	169724335	A A	ACTCGCTC others(37): Show ACTCGCTCGCCTCAGCCCCGCCGCTCGCTCGCCTCAGCCCCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG03098.hp1 HG01069.hp2 HG01071.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0007 a0001c0001t0014	a0001c0001t0007g0033 a0001c0001t0014g0205 a0001c0001t0007g0033 a0001c0001t0014g0205	3	394	0.0076	44	c.-40 others(53): Show c.-405_-404insCGGCGGGGCTGAGGCGAGCGAGCGGCGGGGCTGAGG CGAGCGAG		PHF10	ENSG00000130024.15	transcript	ENST00000339209.9	protein_coding	1/12				405		chr6	TogoVar
PHF14_chr7_10968872_11174618	11122352	T T	TATATATA others(37): Show TATATATATATATATATATATATATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	298	0.0034	44	c.277 others(65): Show c.2772+10886_2772+10887insTATATATATATATATATATATATA CACACACACACACACACACA		PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
PHF14_chr7_10968872_11174618	11122352	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01993.hp1 HG00609.hp2 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0065 a0001c0002t0008g0092 a0001c0002t0001g0065 a0001c0002t0008g0092	2	298	0.0067	44	c.277 others(65): Show c.2772+10886_2772+10887insTATATATATATATATATATATATA TATATACACACACACACACA		PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
PHF14_chr7_10968872_11174618	11122352	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	298	0.0034	44	c.277 others(65): Show c.2772+10886_2772+10887insTATATATATATATATATATATATA TATATATATATACACACACA		PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
PHLPP1_chr18_62710541_62985433	62849830	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	192	0.0052	44	c.190 others(65): Show c.1900-10604_1900-10603insTATATATATATATATATATATATA TATATATATATATATATATA		PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr18	TogoVar
PI4K2A_chr10_97635671_97681434	97642887	T T	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0328 a0001c0002t0008g0328	1	350	0.0029	44	c.435 others(61): Show c.435+1710_435+1711insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTCTCTCTCTCTC		PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding	1/8						chr10	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp1 NA20905.hp1 HG01361.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0229 a0001c0001t0037 a0001c0001t0229	a0001c0001t0037g0247 a0001c0001t0229g0233 a0001c0001t0037g0247 a0001c0001t0229g0233	2	322	0.0062	44	c.50 others(55): Show c.5049_*5050insAAAAAATATATATATATATATATATATATATATA TATATATATA		PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14				5049		chr18	TogoVar
PIBF1_chr13_72777133_73021461	72928002	T T	TATATACA others(37): Show TATATACACACATATATATATACATATATATATACACACATATAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp1 HG00735.hp2 others(29): Show HG00673.hp1 HG00735.hp1 HG00735.hp2 HG01167.hp2 HG01169.hp1 HG01884.hp1 HG01884.hp2 HG02145.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02717.hp1 HG02723.hp2 HG02896.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18950.hp1 NA18966.hp1 NA19009.hp1 NA19030.hp2 NA20129.hp1 NA20300.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0002c0014 a0009c0015 a0002c0002 a0002c0014 a0009c0015	a0002c0002t0002 a0002c0014t0002 a0009c0015t0002 a0002c0002t0002 a0002c0014t0002 a0009c0015t0002	a0002c0002t0002g0182 a0002c0002t0002g0186 a0002c0002t0002g0205 others(29): Show a0002c0002t0002g0182 a0002c0002t0002g0186 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0211 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0224 a0002c0002t0002g0227 a0002c0002t0002g0229 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0295 a0002c0002t0002g0298 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0014t0002g0212 a0009c0015t0002g0223	32	346	0.0925	44	c.173 others(63): Show c.1731-3160_1731-3159insTACACACATATATATATACATATATA TATACACACATATACATA		PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	13/17					INFO_REALIGN_3_PRIME	chr13	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(37): Show CACACACACACACACACACACACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0006 a0017 a0006 a0017	a0006c0004 a0017c0016 a0006c0004 a0017c0016	a0006c0004t0003 a0017c0016t0003 a0006c0004t0003 a0017c0016t0003	a0006c0004t0003g0084 a0017c0016t0003g0015 a0006c0004t0003g0084 a0017c0016t0003g0015	2	158	0.0127	44	c.719 others(61): Show c.7191-400_7191-399insATATATATATATATATATATGTGTGTGT GTGTGTGTGTGTGTGT		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55						chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(37): Show CACACACACACACACACACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0076 a0009c0010t0001g0076	1	158	0.0063	44	c.719 others(61): Show c.7191-400_7191-399insATATATATATATATATATATATATGTGT GTGTGTGTGTGTGTGT		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55						chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(37): Show CACACACACACACACACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0106 a0001c0040t0001g0106	1	158	0.0063	44	c.719 others(61): Show c.7191-400_7191-399insATATATATATATATATATATATATATAT GTGTGTGTGTGTGTGT		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55						chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(37): Show CACACACACACACACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp1 HG02027.hp2 others(2): Show HG00741.hp2 HG01123.hp1 HG02027.hp2 HG02129.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0028 a0002c0001 a0001c0028 a0002c0001	a0001c0028t0001 a0002c0001t0001 a0001c0028t0001 a0002c0001t0001	a0001c0028t0001g0126 a0002c0001t0001g0055 a0002c0001t0001g0087 others(2): Show a0001c0028t0001g0126 a0002c0001t0001g0055 a0002c0001t0001g0087 a0002c0001t0001g0117 a0002c0001t0001g0139	5	158	0.0317	44	c.719 others(61): Show c.7191-400_7191-399insATATATATATATATATATATATATATAT ATGTGTGTGTGTGTGT		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55						chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886343	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATACACATACAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0005 a0005	a0005c0080 a0005c0080	a0005c0080t0002 a0005c0080t0002	a0005c0080t0002g0089 a0005c0080t0002g0089	1	158	0.0063	44	c.330 others(63): Show c.330-14929_330-14928insGTGTATGTGTATATATATATATATAT ATATATATATATATATAT		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55						chr18	TogoVar

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Search Results (Total: 4475 hits)