Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ORC4_chr2_147925396_148025737	147929364	TTTCTTTT others(20): Show TTTCTTTTTAAAAGTTAAACAAAAATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	336	0.0030	-27	c.61 others(38): Show c.6119_*6145delTTATTTTTGTTTAACTTTTAAAAAGAA	ORC4	ENSG00000115947.14	transcript	ENST00000392857.10	protein_coding		1031		chr2	TogoVar
OSBPL10_chr3_31655825_31986262	31812719	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0172 a0001c0002t0003g0172	1	186	0.0054	-27	c.729 others(46): Show c.729+17294_729+17320delCTTTCTTTCTTTCTTTCTTTCTTTCT T	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL2_chr20_62233521_62301183	62300729	TCTTGGCC others(20): Show TCTTGGCCACTGCGTTGGCCTCTGCACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0241 a0001c0001t0004g0241	1	348	0.0029	-27	c.68 others(38): Show c.6843_*6869delCTTGGCCACTGCGTTGGCCTCTGCACA	OSBPL2	ENSG00000130703.17	transcript	ENST00000313733.9	protein_coding		4547		chr20	TogoVar
OSBPL8_chr12_76346797_76564771	76547222	AAACAAGA others(20): Show AAACAAGATTTGCATTCTGCCAATGCAG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	238	0.0042	-27	c.-68 others(46): Show c.-68+12148_-68+12174delCTGCATTGGCAGAATGCAAATCTTGT T	OSBPL8	ENSG00000091039.17	transcript	ENST00000261183.8	protein_coding	1/23			chr12	TogoVar
OSTF1_chr9_75083514_75152265	75128387	TATATATA others(20): Show TATATATATATATATATATATTTTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01261.hp2 HG01891.hp2 others(14): Show HG00733.hp1 HG01261.hp2 HG01891.hp2 HG01975.hp1 HG02132.hp1 HG02735.hp2 HG02922.hp2 HG03486.hp1 HG03654.hp2 HG04204.hp1 NA18941.hp2 NA18951.hp1 NA18961.hp1 NA19012.hp2 NA19054.hp2 NA19074.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 others(4): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0003t0003 a0001c0003t0008 a0001c0003t0011 a0001c0003t0019	a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 others(14): Show a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0007g0051 a0001c0001t0007g0287 a0001c0001t0009g0049 a0001c0003t0003g0023 a0001c0003t0003g0024 a0001c0003t0003g0025 a0001c0003t0003g0027 a0001c0003t0003g0031 a0001c0003t0003g0034 a0001c0003t0003g0039 a0001c0003t0003g0044 a0001c0003t0008g0030 a0001c0003t0011g0126 a0001c0003t0019g0018	17	366	0.0465	-27	c.132 others(42): Show c.132+783_132+809delATATATTTTGTCCATATATATATATAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTOF_chr2_26452203_26483124	26474862	AGATGCCC others(20): Show AGATGCCCGGCTCAGGACTAGACATGAG	A A	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0081 a0001c0003t0001g0081	1	330	0.0030	-27	c.886 others(42): Show c.886-215_886-189delCTCATGTCTAGTCCTGAGCCGGGCATC	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	8/28			chr2	TogoVar
OTOG_chr11_17542259_17651044	17613240	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0025 a0025	a0025c0101 a0025c0101	a0025c0101t0002 a0025c0101t0002	a0025c0101t0002g0244 a0025c0101t0002g0244	1	268	0.0037	-27	c.643 others(44): Show c.6439-370_6439-344delTCTTTCTTTCTTTCTTTCTTTCTTTCT	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	38/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTUD7A_chr15_31470398_31875673	31511359	CACACATA others(20): Show CACACATATATATGTATATCTATATGTA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03130.hp1 HG03710.hp1 others(1): Show HG01496.hp2 HG03130.hp1 HG03710.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0007 a0001c0001 a0002c0003 a0002c0007	a0001c0001t0007 a0001c0001t0083 a0002c0003t0099 others(1): Show a0001c0001t0007 a0001c0001t0083 a0002c0003t0099 a0002c0007t0003	a0001c0001t0007g0008 a0001c0001t0083g0017 a0002c0003t0099g0244 others(1): Show a0001c0001t0007g0008 a0001c0001t0083g0017 a0002c0003t0099g0244 a0002c0007t0003g0158	4	244	0.0164	-27	c.894 others(44): Show c.894-7568_894-7542delTACATATAGATATACATATATATGTGT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OXR1_chr8_106265190_106757694	106405175	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp2 HG03130.hp2 others(3): Show HG02055.hp2 HG02615.hp2 HG03130.hp2 NA18939.hp1 NA18973.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0076 a0001c0001t0001g0130 a0001c0001t0002g0019 others(3): Show a0001c0001t0001g0076 a0001c0001t0001g0130 a0001c0001t0002g0019 a0001c0001t0007g0117 a0001c0001t0007g0164 a0001c0002t0001g0086	6	172	0.0349	-27	c.23+ others(44): Show c.23+45540_23+45566delATATATATATATATATATATATATATA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	2/16			chr8	TogoVar
OXTR_chr3_8745381_8774613	8773176	CTATATAT others(20): Show CTATATATATATAATCTATATATATCTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03471.hp2 HG02055.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0012 a0001c0002t0001 a0001c0002t0012	a0001c0002t0001g0165 a0001c0002t0012g0168 a0001c0002t0001g0165 a0001c0002t0012g0168	2	474	0.0042	-27	c.-42 others(38): Show c.-4211_-4185delTAGATATATATAGATTATATATATATA	OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding		3564		chr3	TogoVar
P2RY8_chrX_1457581_1542185	1530149	GTATGTAT others(20): Show GTATGTATGATCTATCTATCTATCTATC	G G	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	114	0.0088	-27	c.-25 others(44): Show c.-25+6745_-25+6771delGATAGATAGATAGATAGATCATACATA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1530157	GATCTATC others(20): Show GATCTATCTATCTATCTATCTATCTATC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19240.hp1 HG02486.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0009 a0001c0001t0001 a0002c0002t0009	a0001c0001t0001g0007 a0002c0002t0009g0006 a0001c0001t0001g0007 a0002c0002t0009g0006	2	114	0.0175	-27	c.-25 others(44): Show c.-25+6737_-25+6763delGATAGATAGATAGATAGATAGATAGAT	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P3H2_chr3_189951728_190125897	189959885	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0234 a0001c0003t0001g0234	1	304	0.0033	-27	c.203 others(46): Show c.2035-1908_2035-1882delCACACACACACACACACACACACACA C	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	14/14			chr3	TogoVar
PABPN1L_chr16_88858333_88871660	88870640	TGTGCTCC others(20): Show TGTGCTCCCGCCCTGCCTCTTCCCCGTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01070.hp1 HG00323.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	452	0.0044	-27	c.-40 others(38): Show c.-4061_-4035delGACGGGGAAGAGGCAGGGCGGGAGCAC	PABPN1L	ENSG00000205022.9	transcript	ENST00000419291.7	protein_coding		3981		chr16	TogoVar
PACS1_chr11_66065272_66249744	66156228	ATATATAT others(20): Show ATATATATATATATATATATATATATAG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	322	0.0031	-27	c.357 others(46): Show c.357-37256_357-37230delATATATATATATATATATATATATAG T	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS2_chr14_105309748_105403147	105348361	CGCCCAGG others(20): Show CGCCCAGGCAGTCACACCCCGCCCTGCA	C C	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0059 a0001c0001t0017g0059	1	210	0.0048	-27	c.120 others(42): Show c.120-131_120-105delGCCCAGGCAGTCACACCCCGCCCTGCA	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	1/24			chr14	TogoVar
PADI1_chr1_17200128_17251007	17217012	AGAGGAGA others(20): Show AGAGGAGAGGGGAGGGAGGGGAGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01433.hp1 HG03491.hp1 others(2): Show HG00735.hp1 HG01433.hp1 HG03491.hp1 HG03492.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0008 a0001c0002 a0001c0005 a0001c0008	a0001c0002t0007 a0001c0005t0001 a0001c0008t0001 a0001c0002t0007 a0001c0005t0001 a0001c0008t0001	a0001c0002t0007g0092 a0001c0005t0001g0006 a0001c0008t0001g0211 others(1): Show a0001c0002t0007g0092 a0001c0005t0001g0006 a0001c0008t0001g0211 a0001c0008t0001g0267	5	406	0.0123	-27	c.93- others(42): Show c.93-5236_93-5210delGAGGGGAGGAGAGGAGGAGAGGGGAGG	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17329004	TATTTATT others(20): Show TATTTATTAAGATATCTTAATATAATAA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0016 a0016	a0016c0027 a0016c0027	a0016c0027t0001 a0016c0027t0001	a0016c0027t0001g0023 a0016c0027t0001g0023	1	372	0.0027	-27	c.93- others(42): Show c.93-1961_93-1935delTATTAAGATATCTTAATATAATAAATT	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172371	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0136 a0001c0001t0102g0136	1	432	0.0023	-27	c.46 others(38): Show c.4673_*4699delATATATATATATATATATATATATATA	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1327		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172373	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG03540.hp2 NA18906.hp1 HG00642.hp2 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0071 a0001c0001t0008 a0001c0001t0071	a0001c0001t0008g0010 a0001c0001t0071g0010 a0001c0001t0008g0010 a0001c0001t0071g0010	3	432	0.0069	-27	c.46 others(38): Show c.4675_*4701delATATATATATATATATATATATATATA	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1329		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172378	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 NA18977.hp1 HG00609.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	432	0.0046	-27	c.46 others(38): Show c.4680_*4706delTATATATATATATATATATATATATAT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1334		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172380	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG02004.hp2 NA18950.hp1 HG01928.hp2 HG02004.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0005 a0001c0001t0012g0005 a0001c0001t0001g0005 a0001c0001t0012g0005	3	432	0.0069	-27	c.46 others(38): Show c.4682_*4708delTATATATATATATATATATATATATTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1336		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172390	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0025 a0001c0001t0097g0025	1	432	0.0023	-27	c.46 others(38): Show c.4692_*4718delTATATATATATATATTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1346		chr11	TogoVar
PAH_chr12_102831889_102922244	102871934	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19012.hp2 HG01496.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0084 a0001c0002t0001g0074 a0001c0002t0001g0084	2	312	0.0064	-27	c.442 others(44): Show c.442-5298_442-5272delATATATATATATTTTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102871936	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01884.hp2 HG01891.hp1 others(1): Show HG00642.hp2 HG01884.hp2 HG01891.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0001t0025 a0001c0008t0023 others(1): Show a0001c0001t0003 a0001c0001t0025 a0001c0008t0023 a0001c0008t0024	a0001c0001t0003g0233 a0001c0001t0025g0234 a0001c0008t0023g0242 others(1): Show a0001c0001t0003g0233 a0001c0001t0025g0234 a0001c0008t0023g0242 a0001c0008t0024g0241	4	312	0.0128	-27	c.442 others(44): Show c.442-5300_442-5274delATATATATATATATTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAK2_chr3_196734857_196837647	196807381	TAAAAACT others(20): Show TAAAAACTTTCATGGGAATTAATAATAG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0006 a0001c0001t0053g0006	1	178	0.0056	-27	c.577 others(42): Show c.577-400_577-374delAAAAACTTTCATGGGAATTAATAATAG	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	6/14			chr3	TogoVar
PALD1_chr10_70473767_70573450	70569552	ACCCACAG others(20): Show ACCCACAGGCATATGAAAGAAATGTCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	308	0.0033	-27	c.28 others(38): Show c.2820_*2846delCCCACAGGCATATGAAAGAAATGTCCG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding		1103		chr10	TogoVar
PALLD_chr4_168492052_168933441	168799785	CATTATAT others(20): Show CATTATATTCTTTTCCCTGAGGCAGAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG01123.hp2 others(6): Show HG00280.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01261.hp1 HG02559.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0002c0007 others(2): Show a0001c0001 a0002c0003 a0002c0007 a0002c0012 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0002c0007t0002 a0002c0012t0019 a0004c0011t0013	a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0059 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0059 a0001c0001t0001g0070 a0001c0001t0002g0117 a0002c0003t0001g0036 a0002c0007t0002g0139 a0002c0012t0019g0141 a0004c0011t0013g0004	9	156	0.0577	-27	c.196 others(48): Show c.1964+87865_1964+87891delTATATTCTTTTCCCTGAGGCAGAA AAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110072090	ACCTATTG others(20): Show ACCTATTGGTAAAATATAGAATCTTAAG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	222	0.0045	-27	c.582 others(46): Show c.582+56078_582+56104delGCCTATTGGTAAAATATAGAATCTTA A	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALMD_chr1_99641113_99699535	99683123	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02976.hp2 HG06807.hp1 HG01346.hp2 HG02976.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0024 a0001c0002t0002g0231 a0001c0002t0002g0233 a0001c0002t0001g0024 a0001c0002t0002g0231 a0001c0002t0002g0233	3	380	0.0079	-27	c.252 others(44): Show c.252-3550_252-3524delGAAAGAAAGAAAGAAAGAAAGAAAGAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAM_chr5_102750305_103034716	102758068	ATTTTGTT others(20): Show ATTTTGTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02559.hp2 others(3): Show HG02055.hp1 HG02258.hp2 HG02559.hp2 HG02818.hp2 HG02896.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0003g0033 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0003g0033 a0001c0002t0002g0004 a0001c0002t0002g0029 a0001c0002t0002g0030	6	188	0.0319	-27	c.-37 others(46): Show c.-374+2725_-374+2751delGTTTTTTTTTTTTTTTTTTTTTTTTT T	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PANX3_chr11_124606428_124625356	124606646	TACTAAAA others(20): Show TACTAAAATTCCACACAAAGAAAATCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	-27	c.-49 others(38): Show c.-4910_-4884delACTAAAATTCCACACAAAGAAAATCCC	PANX3	ENSG00000154143.3	transcript	ENST00000284288.3	protein_coding		4781		chr11	TogoVar
PAPSS2_chr10_87654878_87752705	87666227	GTGCTGGG others(20): Show GTGCTGGGATTACAGGCATGAGCCACCA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0342 a0001c0001t0015g0342	1	372	0.0027	-27	c.27+ others(42): Show c.27+6224_27+6250delGGGATTACAGGCATGAGCCACCATGCT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300645	CTTTCTTT others(20): Show CTTTCTTTTCTTTCTTTCTTTCATTCTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01433.hp1 NA18954.hp2 HG01261.hp2 HG01433.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0003t0003g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0003t0003g0275	3	284	0.0106	-27	c.-27 others(46): Show c.-277+1591_-277+1617delTTCTTTTCTTTCTTTCTTTCATTCTT T	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300913	CTTTCTCT others(20): Show CTTTCTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	284	0.0035	-27	c.-27 others(46): Show c.-277+1860_-277+1886delTCTCTCTCTCTCTCTCTCTCTCTCTT T	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322691	GGAAGAAG others(20): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp2 HG02559.hp1 others(2): Show HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02630.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0048 a0001c0001t0002g0128 a0001c0001t0003g0005 others(2): Show a0001c0001t0001g0048 a0001c0001t0002g0128 a0001c0001t0003g0005 a0001c0001t0006g0244 a0002c0002t0001g0044	5	284	0.0176	-27	c.-27 others(48): Show c.-276-14596_-276-14570delAGAAGAAGAAGAAGAAGAAGAAGA AGA	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322760	AGAAGAAG others(20): Show AGAAGAAGAAGAGGGAGAAGAAGAAGAC	A A	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19009.hp1 NA18957.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0014 a0001c0001t0001g0033	2	284	0.0070	-27	c.-27 others(48): Show c.-276-14578_-276-14552delAGAAGAAGAGGGAGAAGAAGAAGA CGA	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322784	AGACGAGG others(20): Show AGACGAGGAAGAAGAAGAAGAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	284	0.0035	-27	c.-27 others(48): Show c.-276-14554_-276-14528delCGAGGAAGAAGAAGAAGAGGAAGA GGA	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69342267	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02145.hp1 HG02145.hp2 others(29): Show HG01496.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0002c0002t0002	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 others(29): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0252 a0001c0001t0002g0015 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0003g0005 a0001c0001t0003g0250 a0001c0001t0006g0229 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0251 a0001c0001t0018g0214 a0001c0001t0019g0039 a0001c0001t0022g0049 a0002c0002t0002g0004	32	284	0.1127	-27	c.-11 others(46): Show c.-116+4784_-116+4810delATTATTATTATTATTATTATTATTAT T	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3B_chr2_204540475_205625162	205037281	TATATATA others(20): Show TATATATATAGTGGACTATTTGTATAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02055.hp1 others(28): Show HG01109.hp2 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0010	a0001c0002 a0001c0004 a0001c0006 others(18): Show a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0021 a0001c0022 a0002c0001 a0002c0003 a0003c0005 a0003c0009 a0003c0010 a0003c0018 a0004c0011 a0004c0012 a0004c0019 a0004c0026 a0005c0013 a0007c0017 a0007c0028 a0008c0007 a0010c0027	a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 others(25): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 a0001c0004t0002 a0001c0004t0021 a0001c0006t0007 a0001c0008t0001 a0001c0008t0004 a0001c0021t0001 a0001c0022t0018 a0002c0001t0004 a0002c0003t0016 a0003c0005t0001 a0003c0005t0005 a0003c0009t0009 a0003c0010t0019 a0003c0018t0002 a0004c0011t0005 a0004c0012t0003 a0004c0019t0002 a0004c0026t0004 a0005c0013t0001 a0005c0013t0003 a0007c0017t0012 a0007c0028t0003 a0008c0007t0001 a0008c0007t0005 a0010c0027t0015	a0001c0002t0001g0008 a0001c0002t0001g0027 a0001c0002t0004g0029 others(28): Show a0001c0002t0001g0008 a0001c0002t0001g0027 a0001c0002t0004g0029 a0001c0002t0013g0022 a0001c0004t0002g0035 a0001c0004t0021g0051 a0001c0006t0007g0013 a0001c0006t0007g0018 a0001c0008t0001g0054 a0001c0008t0004g0028 a0001c0021t0001g0012 a0001c0022t0018g0020 a0002c0001t0004g0017 a0002c0003t0016g0046 a0003c0005t0001g0025 a0003c0005t0005g0045 a0003c0009t0009g0039 a0003c0010t0019g0030 a0003c0018t0002g0038 a0004c0011t0005g0044 a0004c0012t0003g0004 a0004c0012t0003g0048 a0004c0019t0002g0036 a0004c0026t0004g0041 a0005c0013t0001g0001 a0005c0013t0003g0002 a0007c0017t0012g0006 a0007c0028t0003g0007 a0008c0007t0001g0026 a0008c0007t0005g0040 a0010c0027t0015g0003	31	54	0.5741	-27	c.395 others(46): Show c.395-10209_395-10183delGTGGACTATTTGTATAAAATATATAT A	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3_chr10_34104561_34820296	34681752	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0094 a0001c0001t0005g0094	1	100	0.0100	-27	c.222 others(46): Show c.222+14539_222+14565delAAAAAAAAAAATATATATATATATAT A	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARN_chr16_14430701_14635260	14451843	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAATACA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	169	0.0059	-27	c.167 others(46): Show c.1671-4789_1671-4763delTGTATTTTTTTTTTTTTTTTTTTTTT T	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	22/23			chr16	TogoVar
PARN_chr16_14430701_14635260	14497734	TGGGCTGC others(20): Show TGGGCTGCACTATTTACACTTTCATTAA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03471.hp2 HG03540.hp1 others(1): Show HG02717.hp1 HG03471.hp2 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0057 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0057 a0001c0001t0017g0046	4	169	0.0237	-27	c.148 others(48): Show c.1481-14934_1481-14908delTTAATGAAAGTGTAAATAGTGCAG CCC	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	21/23			chr16	TogoVar
PARP12_chr7_140018749_140067951	140023775	TACTCTTT others(20): Show TACTCTTTTGTGACATGTGTGGCACAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0099 a0001c0001t0010g0099	1	360	0.0028	-27	c.75 others(36): Show c.758_*784delCTTGTGCCACACATGTCACAAAAGAGT	PARP12	ENSG00000059378.13	transcript	ENST00000263549.8	protein_coding	12/12	758		chr7	TogoVar
PARP12_chr7_140018749_140067951	140035993	GAGGAGGA others(20): Show GAGGAGGAGAAGGAGGAGAAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	360	0.0028	-27	c.132 others(46): Show c.1325-1689_1325-1663delTCTCCTCCTTCTCCTCCTTCTCCTCC T	PARP12	ENSG00000059378.13	transcript	ENST00000263549.8	protein_coding	7/11			chr7	TogoVar
PARP1_chr1_226355691_226413093	226384264	GGAGAGGG others(20): Show GGAGAGGGGTATGTGAGAAGGAAGAAAA	G G	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	358	0.0028	-27	c.101 others(46): Show c.1012-1108_1012-1082delTTTTCTTCCTTCTCACATACCCCTCT C	PARP1	ENSG00000143799.14	transcript	ENST00000366794.10	protein_coding	7/22			chr1	TogoVar
PARP2_chr14_20338635_20362904	20347374	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	420	0.0024	-27	c.324 others(42): Show c.324+463_324+489delATATATATATATATATATATATATTTT	PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARVB_chr22_44019302_44177939	44154948	TGTGTGTG others(20): Show TGTGTGTGTGGTTTTTGTAGTCTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02602.hp1 HG02145.hp1 HG02258.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0009 a0001c0002t0085 a0001c0001t0003 a0001c0002t0009 a0001c0002t0085	a0001c0001t0003g0144 a0001c0002t0009g0191 a0001c0002t0085g0135 a0001c0001t0003g0144 a0001c0002t0009g0191 a0001c0002t0085g0135	3	332	0.0090	-27	c.844 others(44): Show c.844-3024_844-2998delGTTTTTGTAGTCTGTGTGGTGTGTGTG	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PAWR_chr12_79579879_79695964	79613969	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	256	0.0039	-27	c.649 others(42): Show c.649-387_649-361delAAAAAAAAAAAAAAAAATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAX1_chr20_21700664_21723481	21721315	TTATATAT others(20): Show TTATATATGTATATAATACATATATATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18992.hp1 NA18747.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0028 a0001c0001t0005 a0001c0001t0028	a0001c0001t0005g0001 a0001c0001t0028g0004 a0001c0001t0005g0001 a0001c0001t0028g0004	2	400	0.0050	-27	c.67 others(38): Show c.6754_*6780delTATATATGTATATAATACATATATATG	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		2835		chr20	TogoVar

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Search Results (Total: 3848 hits)