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
POR_chr7_75910155_75991855	75988790	G G	GGAAGGCC others(46): Show GGAAGGCCGGGTGGGGGGCTGGAGGGGAAGGCCAGGTGGGGGGCTGGAGG GGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0056 a0001c0003t0001g0056	1	278	0.0036	53	c.23 others(64): Show c.2309_*2310insGAAGGCCGGGTGGGGGGCTGGAGGGGAAGGCCAG GTGGGGGGCTGGAGGGGAA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1936		chr7	TogoVar
POTED_chr21_13604777_13650823	13637005	T T	TATATATA others(46): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0093 a0004c0005t0002g0093	1	416	0.0024	53	c.141 others(72): Show c.1410-2510_1410-2509insATATATATATATATATATATATATAT ATATATATATATATATATATATATATA	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding	9/10			chr21	TogoVar
PPARA_chr22_46145526_46248755	46174266	G G	GAAGGAAG others(46): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGG AAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00738.hp1 others(23): Show HG00438.hp2 HG00597.hp1 HG00738.hp1 HG01109.hp1 HG01934.hp1 HG01952.hp2 HG02109.hp2 HG02129.hp1 HG02155.hp1 HG02293.hp2 HG02523.hp2 HG02895.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03831.hp1 NA18945.hp1 NA18952.hp1 NA18993.hp2 NA19070.hp1 NA19085.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0045 a0001c0001t0058 a0001c0001t0074 a0001c0001t0077 a0001c0004t0001 a0002c0002t0021	a0001c0001t0001g0015 a0001c0001t0001g0052 a0001c0001t0001g0084 others(23): Show a0001c0001t0001g0015 a0001c0001t0001g0052 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0184 a0001c0001t0002g0054 a0001c0001t0002g0082 a0001c0001t0002g0170 a0001c0001t0004g0037 a0001c0001t0008g0167 a0001c0001t0008g0183 a0001c0001t0009g0175 a0001c0001t0023g0176 a0001c0001t0024g0181 a0001c0001t0025g0058 a0001c0001t0028g0127 a0001c0001t0045g0059 a0001c0001t0058g0079 a0001c0001t0074g0112 a0001c0001t0077g0004 a0001c0004t0001g0055 a0002c0002t0021g0114	26	200	0.1300	53	c.-12 others(72): Show c.-126-2477_-126-2476insGGAAGGAAGGAAGGAAGGAAGGAAAG GAAGGAAGGAAGGAAGAAAGGAAGGAA	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPARA_chr22_46145526_46248755	46174266	G G	GAAGGAAG others(46): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGG AAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0026 a0001c0006t0026	a0001c0006t0026g0142 a0001c0006t0026g0142	1	200	0.0050	53	c.-12 others(72): Show c.-126-2477_-126-2476insGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGGAAGGAAGGAAGAAAGGAAGGAA	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPEF2_chr4_75854867_75907452	75877038	G G	GAAAGAAA others(46): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	270	0.0037	53	c.934 others(68): Show c.934-366_934-365insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTT	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	10/16			chr4	TogoVar
PPFIA1_chr11_70265690_70389396	70277058	A A	ATTATAAT others(46): Show ATTATAATATATATATATATATATATATATATATATATATATATATTTTT TTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0064 a0001c0004t0004g0064	1	282	0.0036	53	c.264 others(70): Show c.264+4623_264+4624insTATAATATATATATATATATATATATAT ATATATATATATATATTTTTTTTTT	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP1R14C_chr6_150138044_150255392	150164814	G G	GAATCCTA others(46): Show GAATCCTAAGCCCCAGTATTATACTATTGGGAGAGGGGCCTTTCGGAGGT GATT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0101 a0001c0001t0008g0101	1	312	0.0032	53	c.306 others(72): Show c.306+21318_306+21370dupATCCTAAGCCCCAGTATTATACTATT GGGAGAGGGGCCTTTCGGAGGTGATTA	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R16B_chr20_38800697_38928024	38895860	T T	TCTCCTCC others(46): Show TCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTC TTTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02055.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0001g0100 a0001c0001t0001g0117	2	244	0.0082	53	c.467 others(68): Show c.467+150_467+151insCTCCTCCCTCCCTCCTTCCTTCTTTCTCTC CTCCCTCCCTCCTTCCTTCTTTC	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10			chr20	TogoVar
PPP2R1B_chr11_111732877_111771389	111766393	T T	TCCCGCCC others(46): Show TCCCGCCCCGCGCCCAGGCCCCGCCCGCGCCCAGGCCCCGCCCCGCGCCC AGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0234 a0001c0002t0002g0234	1	358	0.0028	53	c.-33 others(60): Show c.-33_-32insGCCTGGGCGCGGGGCGGGGCCTGGGCGCGGGCGGGGCC TGGGCGCGGGGCGGG	PPP2R1B	ENSG00000137713.16	transcript	ENST00000527614.6	protein_coding		5		chr11	TogoVar
PPP2R3B_chrX_328933_391907	376599	A A	AGTGGGGC others(46): Show AGTGGGGCCGCCATGGGGCTGTCTATACACTACTGTATACAGGGACGGGC CGTC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01255.hp2 others(8): Show HG01071.hp1 HG01071.hp2 HG01255.hp2 HG01934.hp1 HG02015.hp1 HG02630.hp1 HG03209.hp1 HG03834.hp2 NA18940.hp1 NA18960.hp1 NA19088.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0008	a0001c0001 a0002c0002 a0002c0003 others(4): Show a0001c0001 a0002c0002 a0002c0003 a0002c0004 a0005c0009 a0007c0006 a0008c0005	a0001c0001t0001 a0002c0002t0002 a0002c0002t0012 others(5): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0012 a0002c0003t0003 a0002c0004t0002 a0005c0009t0009 a0007c0006t0004 a0008c0005t0003	a0001c0001t0001g0022 a0002c0002t0002g0010 a0002c0002t0002g0014 others(8): Show a0001c0001t0001g0022 a0002c0002t0002g0010 a0002c0002t0002g0014 a0002c0002t0012g0008 a0002c0003t0003g0011 a0002c0003t0003g0013 a0002c0004t0002g0005 a0002c0004t0002g0009 a0005c0009t0009g0012 a0007c0006t0004g0001 a0008c0005t0003g0006	11	25	0.4400	53	c.324 others(70): Show c.324+9768_324+9769insGACGGCCCGTCCCTGTATACAGTAGTGT ATAGACAGCCCCATGGCGGCCCCAC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12			chrX	TogoVar
PPP2R5C_chr14_101756709_101932977	101782577	C C	CTCTGTCT others(46): Show CTCTGTCTCTTTCTCCCCCCCTTTCCACTTTCTCTCTTTCTCCCCCCTTC CCCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0080 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0080	3	138	0.0217	53	c.94- others(68): Show c.94-3441_94-3440insTCTGTCTCTTTCTCCCCCCCTTTCCACTTT CTCTCTTTCTCCCCCCTTCCCCT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15			chr14	TogoVar
PPP3CA_chr4_101018418_101352526	101103950	T T	TTTCATCA others(46): Show TTTCATCACTACTCAAAAGCTTGCTTGTCTTATTTGGGCTAACTTTGTGG GAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0152 a0002c0005t0005g0152	1	192	0.0052	53	c.385 others(70): Show c.385-4281_385-4229dupTTTCCCACAAAGTTAGCCCAAATAAGAC AAGCAAGCTTTTGAGTAGTGATGAA	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101106453	G G	GAAAGAAA others(46): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	192	0.0052	53	c.384 others(70): Show c.384+2500_384+2501insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101106456	A A	AGAAAGAA others(46): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0029 a0001c0001t0036g0029	1	192	0.0052	53	c.384 others(70): Show c.384+2497_384+2498insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTC	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP4R3A_chr14_91452508_91515310	91507640	A A	AGTATATA others(46): Show AGTATATATACACGGAATATATATATATATATATATACACGGAATATATA TAGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01123.hp2 HG01256.hp2 others(13): Show HG00280.hp1 HG01123.hp2 HG01256.hp2 HG01258.hp1 HG01943.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp1 HG02280.hp2 HG02523.hp1 HG02559.hp1 HG02970.hp2 HG03927.hp1 NA18942.hp1 NA19056.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 others(13): Show a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0003g0337	16	370	0.0432	53	c.142 others(70): Show c.142+1865_142+1866insACTATATATATTCCGTGTATATATATAT ATATATATATTCCGTGTATATATAC	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	1/14			chr14	TogoVar
PPP4R3A_chr14_91452508_91515310	91507640	A A	AGTATATA others(46): Show AGTATATATACACGGACTATATATATATATATATATACACGGAATATATA TAGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02572.hp1 others(5): Show HG01884.hp2 HG02451.hp2 HG02572.hp1 HG02976.hp1 HG03041.hp2 HG03195.hp2 HG03516.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 others(5): Show a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311	8	370	0.0216	53	c.142 others(70): Show c.142+1865_142+1866insACTATATATATTCCGTGTATATATATAT ATATATATAGTCCGTGTATATATAC	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	1/14			chr14	TogoVar
PPP6R2_chr22_50338327_50450090	50345768	T T	TCCCCCCC others(46): Show TCCCCCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCCCCCCGGTC AGTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0188 a0002c0004t0010g0188	1	340	0.0029	53	c.-14 others(72): Show c.-148+2251_-148+2252insCCCCCCCCCCCCGGTCAGTCCCCCCC CCCAGTCAGTGCCCCCTCCAGTCAGTT	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRAMEF26_chr1_13143907_13161009	13155155	T T	TCTGGTGT others(46): Show TCTGGTGTGGGAGAATCACTTTAGCCCAGAAGATTGAGGATGCAGTGAGC CATG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0098 a0002c0002t0005g0098	1	229	0.0044	53	c.-17 others(68): Show c.-17+728_-17+729insCATGGCTCACTGCATCCTCAATCTTCTGGG CTAAAGTGATTCTCCCACACCAG	PRAMEF26	ENSG00000280267.7	transcript	ENST00000624207.2	protein_coding	1/3			chr1	TogoVar
PRAMEF8_chr1_13276304_13290137	13286175	A A	AGGGAGGC others(46): Show AGGGAGGCAGGGAGGGAGGCAGGGAGGGAGGGAGGGAGGGAGGGAAGGAG GGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0003 a0002c0001t0001g0003	1	332	0.0030	53	c.-11 others(64): Show c.-1105_-1104insCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCT GCCTCCCTCCCTGCCTCCC	PRAMEF8	ENSG00000182330.11	transcript	ENST00000357367.7	protein_coding		1039		chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151855228	A A	ACACACCA others(46): Show ACACACCACCTTCCACACACCACCCTCCACACACCACCCTCCACACACAC CATC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02895.hp2 HG02897.hp1 others(1): Show HG02572.hp2 HG02895.hp2 HG02897.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010	a0001c0001t0002g0139 a0001c0001t0006g0060 a0001c0001t0010g0159 others(1): Show a0001c0001t0002g0139 a0001c0001t0006g0060 a0001c0001t0010g0159 a0001c0001t0010g0160	4	252	0.0159	53	c.114 others(72): Show c.114+21278_114+21279insGATGGTGTGTGTGGAGGGTGGTGTGT GGAGGGTGGTGTGTGGAAGGTGGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKN_chr6_161342417_162732766	161874150	T T	TATATAAT others(46): Show TATATAATATATATTATATGTAAAATATAATATATAATATATATTATATG TAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0011 a0004c0009t0011	a0004c0009t0011g0031 a0004c0009t0011g0031	1	32	0.0313	53	c.735 others(72): Show c.735-88243_735-88242insTTTACATATAATATATATTATATATT ATATTTTACATATAATATATATTATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162010721	A A	ATATAATA others(46): Show ATATAATATATTATATAATATATTATATAATATATAATATATAATATATT ATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0015 a0003c0005t0001g0015	1	32	0.0313	53	c.619 others(72): Show c.619-37305_619-37304insATATAATATATTATATATTATATATT ATATAATATATTATATAATATATTATA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRLH_chr2_237561574_237572175	237564308	G G	GGTCTCTA others(46): Show GGTCTCTAAAAAGGAAAGGTGTAGGCATTTTAAATTGTTCTGATGGAGAG CACT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	404	0.0025	53	c.-22 others(64): Show c.-2266_-2265insGTCTCTAAAAAGGAAAGGTGTAGGCATTTTAAAT TGTTCTGATGGAGAGCACT	PRLH	ENSG00000071677.1	transcript	ENST00000165524.1	protein_coding		2265		chr2	TogoVar
PRM1_chr16_11275841_11286330	11282880	G G	GGCATGAG others(46): Show GGCATGAGCCACCACACCTGGCCTTGAATTACACACTTTAAAATGATGTA TTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	53	c.-16 others(64): Show c.-1643_-1642insTAAATACATCATTTTAAAGTGTGTAATTCAAGGC CAGGTGTGGTGGCTCATGC	PRM1	ENSG00000175646.4	transcript	ENST00000312511.4	protein_coding		1551		chr16	TogoVar
PRORP_chr14_35117552_35282622	35172453	C C	CTTCCTTC others(46): Show CTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01952.hp1 HG01993.hp2 others(2): Show HG00438.hp2 HG01952.hp1 HG01993.hp2 HG02074.hp1 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0220 a0001c0002t0001g0239 others(2): Show a0001c0002t0001g0005 a0001c0002t0001g0220 a0001c0002t0001g0239 a0001c0002t0001g0259 a0001c0002t0001g0260	5	314	0.0159	53	c.116 others(72): Show c.1168-8214_1168-8213insCTTCCTTCCTTCCTTCCTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTTC	PRORP	ENSG00000100890.16	transcript	ENST00000534898.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRORP_chr14_35117552_35282622	35172453	C C	CTTCCTTC others(46): Show CTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA20752.hp2 HG01891.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0029 a0001c0002t0001 a0001c0002t0029	a0001c0002t0001g0198 a0001c0002t0029g0210 a0001c0002t0001g0198 a0001c0002t0029g0210	2	314	0.0064	53	c.116 others(72): Show c.1168-8214_1168-8213insCTTCCTTCCTTCCTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTTC	PRORP	ENSG00000100890.16	transcript	ENST00000534898.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRORP_chr14_35117552_35282622	35172453	C C	CTTCCTTC others(46): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	314	0.0032	53	c.116 others(72): Show c.1168-8214_1168-8213insCTTCCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTTC	PRORP	ENSG00000100890.16	transcript	ENST00000534898.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRPF6_chr20_63976132_64038100	64029867	A A	ATGTGATT others(46): Show ATGTGATTCACACTGGTGCGCTGGCCGCCGGGTCAGAGACTCACTGGGGA CGCG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	294	0.0034	53	c.254 others(70): Show c.2546+426_2546+427insGCGTGTGATTCACACTGGTGCGCTGGCC GCCGGGTCAGAGACTCACTGGGGAC	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRR23C_chr3_139037102_139049892	139048722	A A	ATGATAAA others(46): Show ATGATAAATTCTTTGTCTAGACCAATGTCCAGGAAAGTTTTCTCCAGTAA TTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0000 a0001c0002t0003g0000	1	426	0.0024	53	c.-41 others(64): Show c.-4155_-4103dupAAAATTACTGGAGAAAACTTTCCTGGACATTGGT CTAGACAAAGAATTTATCA	PRR23C	ENSG00000233701.3	transcript	ENST00000413199.1	protein_coding		3831		chr3	TogoVar
PRR35_chr16_555394_570529	565820	G G	GTGTCTTG others(46): Show GTGTCTTGGTGTGTCGGGGGTGGAGAGGCGTGTGGACTGGGCTGCTCGGC CTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	424	0.0024	53	c.51 others(62): Show c.513_*514insTGTCTTGGTGTGTCGGGGGTGGAGAGGCGTGTGGAC TGGGCTGCTCGGCCTGT	PRR35	ENSG00000161992.6	transcript	ENST00000409413.4	protein_coding		292		chr16	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(46): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03669.hp2 HG01515.hp1 HG03669.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0111 a0002c0003t0003g0027 a0001c0001t0001g0111 a0002c0003t0003g0027	2	216	0.0093	53	c.-51 others(70): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131420494	T T	TTTCTTTC others(46): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCT TTCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0032 a0013c0020t0032	a0013c0020t0032g0006 a0013c0020t0032g0006	1	216	0.0046	53	c.-51 others(70): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCCTT TCTTTCTTTCTTTCTTTCTTTCCTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2C_chr1_171480530_171598511	171569575	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	336	0.0030	53	c.665 others(72): Show c.6651+1236_6651+1237insTATATATATATATATATATATATATA TATATATATATATATATATATATATAT	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34			chr1	TogoVar
PSD3_chr8_18522303_19018703	18594244	A A	ATATATAT others(46): Show ATATATATTATATAATATATATTATTATATACATATTATATAATAATATA TTAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	228	0.0044	53	c.248 others(72): Show c.2481+6119_2481+6120insATAATATATTATTATATAATATGTAT ATAATAATATATATTATATAATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PSMA8_chr18_26128869_26198355	26163218	T T	TAATATAT others(46): Show TAATATATATATATTATATATATATATAATATATATATATTATATATATA TATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02896.hp1 HG02897.hp2 HG02109.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032	3	268	0.0112	53	c.477 others(70): Show c.477+4975_477+4976insATATATATATATTATATATATATATAAT ATATATATATTATATATATATATAA	PSMA8	ENSG00000154611.15	transcript	ENST00000415576.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
PSMB9_chr6_32849192_32864851	32862765	A A	AAACAAAA others(46): Show AAACAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAGAAAAAAGAA AAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	455	0.0022	53	c.32 others(64): Show c.3233_*3234insAACAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAA AAAAAGAAAAAAGAAAAAG	PSMB9	ENSG00000240065.8	transcript	ENST00000374859.3	protein_coding		2915		chr6	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(46): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	370	0.0027	53	c.859 others(70): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(46): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	370	0.0027	53	c.859 others(70): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(46): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	370	0.0027	53	c.859 others(70): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATATATATATATATTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN9_chr15_75458251_75584315	75530713	A A	ATATTATA others(46): Show ATATTATAATATACTATAATATATATTATATAATATACTATTATATAATT ATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	326	0.0031	53	c.64- others(68): Show c.64-3453_64-3452insATATAATTATATAATAGTATATTATATAAT ATATATTATAGTATATTATAATA	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPRD_chr9_8309246_10618002	8353817	A A	AAATATAT others(46): Show AAATATATGTATATATGTATATATGTGTATATGTGTATATATGTATATAT GTGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	34	0.0294	53	c.466 others(74): Show c.4662-11840_4662-11839insACACATATATACATATATACACAT ATACACATATATACATATATACATATATT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	39/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10449053	C C	CCCTCTCC others(46): Show CCCTCTCCCTCTCCGTCTCCCACTTTCCACGGTCTCCCTCTCATGCCGCT CCCT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0020 a0004c0016t0020	a0004c0016t0020g0011 a0004c0016t0020g0011	1	34	0.0294	53	c.-59 others(76): Show c.-599-108037_-599-108036insAGGGAGCGGCATGAGAGGGAGA CCGTGGAAAGTGGGAGACGGAGAGGGAGAGG	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRQ_chr12_80439235_80685273	80558119	C C	CTTTCTTT others(46): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTTCTTTTCTT TTCT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	178	0.0056	53	c.428 others(72): Show c.4285+8392_4285+8393insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTTTCTTTTCTTTTCTTTTCTTT	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTTG1IP2_chr7_90464639_90518397	90499723	A A	AAGACCTG others(46): Show AAGACCTGCGATGGTGGAAGATGTGTGGGGAAGGTGGTCGAGCTTTCTGA TCGT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	384	0.0026	53	c.50 others(70): Show c.50+5293_*50+5294insAGACCTGCGATGGTGGAAGATGTGTGGG GAAGGTGGTCGAGCTTTCTGATCGT	PTTG1IP2	ENSG00000251154.2	transcript	ENST00000509356.2	protein_coding	6/6			chr7	TogoVar
PUM1_chr1_30926506_31070717	30972447	G G	GGGAGGGG others(46): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0228 a0001c0002t0004g0228	1	334	0.0030	53	c.150 others(72): Show c.1506+2203_1506+2204insTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCC	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PURB_chr7_44871299_44890530	44883774	C C	CCAATTTG others(46): Show CCAATTTGGTTCTGTATTCTTAGATGGCTTCTTGAAATCTTATCTTTAAC CTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0000 a0001c0002t0028g0000	1	412	0.0024	53	c.58 others(62): Show c.583_*635dupACAGGTTAAAGATAAGATTTCAAGAAGCCATCTAAG AATACAGAACCAAATTG	PURB	ENSG00000146676.10	transcript	ENST00000395699.5	protein_coding	1/1	635		chr7	TogoVar
PXMP2_chr12_132682587_132709985	132694348	C C	CAGTTAGT others(46): Show CAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGTC AGTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01070.hp1 HG01071.hp1 others(6): Show HG00544.hp2 HG01070.hp1 HG01071.hp1 HG01243.hp2 HG03490.hp1 HG03492.hp2 NA18977.hp1 NA18986.hp2 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0008 a0001c0003t0003 a0001c0003t0008	a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0149 others(4): Show a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0149 a0001c0003t0003g0150 a0001c0003t0003g0154 a0001c0003t0003g0169 a0001c0003t0008g0155	9	350	0.0257	53	c.237 others(70): Show c.237-1529_237-1528insTAGTGAGCTCCCTTGCCAGTTAGTTAGT GAGCTCCCTTAGTCAGTTAGTTAGT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PXMP2_chr12_132682587_132709985	132694368	C C	CAGTTAGT others(46): Show CAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCC AGTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0158 a0001c0003t0003g0158	1	350	0.0029	53	c.237 others(70): Show c.237-1509_237-1508insTAGTGAGCGCCCTTGCCAGTTAGTTAGT GAGCTCCCTTAGCCAGTTAGTTAGT	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PYDC2_chr3_191456163_191466456	191463082	T T	TTTTCTTT others(46): Show TTTTCTTTCTTTCTTCTTTCTTTCTTTTTCTCTCTCTCTCCCTCCCTCCC TTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	434	0.0023	53	c.16 others(64): Show c.1626_*1627insTTTCTTTCTTTCTTCTTTCTTTCTTTTTCTCTCT CTCTCCCTCCCTCCCTTCC	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1627		chr3	TogoVar
QPCT_chr2_37339630_37378322	37347170	T T	TATATATA others(46): Show TATATATATATATATATATATATATATATCATATATATATAACATATATA TAAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0144 a0001c0003t0001g0144	1	442	0.0023	53	c.120 others(70): Show c.120+2328_120+2329insTATATATATATATATATATCATATATAT ATAACATATATATAACATATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 10000 hits)