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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
PKIB_chr6_122605405_122731373	122722140	A A	ATTTTCCT others(25): Show ATTTTCCTTTCATTAACATCACAATACAAAATG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	312	0.0032	32	c.170 others(49): Show c.170-2958_170-2927dupATGTTTTCCTTTCATTAACATCACAATA CAAA	PKIB	ENSG00000135549.16	transcript	ENST00000368452.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PKN1_chr19_14428306_14476859	14465399	C C	CTCTTTTT others(25): Show CTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01168.hp1 others(3): Show HG01069.hp1 HG01070.hp2 HG01168.hp1 HG01169.hp2 HG01943.hp2 NA18954.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0173 a0003c0005t0001g0176 a0003c0005t0001g0179 others(3): Show a0003c0005t0001g0173 a0003c0005t0001g0176 a0003c0005t0001g0179 a0003c0005t0001g0180 a0003c0005t0001g0190 a0003c0005t0001g0192	6	376	0.0160	32	c.173 others(51): Show c.1731+1247_1731+1248insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	PKN1	ENSG00000123143.13	transcript	ENST00000242783.11	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18906.hp2 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0060 a0001c0001t0007g0004 a0001c0001t0001g0060 a0001c0001t0007g0004	2	362	0.0055	32	c.-57 others(51): Show c.-57+12741_-57+12742insAAAAAATATATATATATATATATATA TATATA	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0010 a0001c0001t0007g0010	1	362	0.0028	32	c.-57 others(51): Show c.-57+12741_-57+12742insAAAATATATATATATATATATATATA TATATA	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKNOX2_chr11_125159751_125438389	125178645	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18986.hp2 NA18942.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0057 a0001c0001t0003g0050 a0001c0001t0002g0057 a0001c0001t0003g0050	2	222	0.0090	32	c.-20 others(53): Show c.-201+13872_-201+13873insAGAAAGAAAGAAAGAAAGAAAGAA GGAAGGAA	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKNOX2_chr11_125159751_125438389	125178645	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18962.hp2 HG04228.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0033 a0001c0001t0004g0106 a0001c0001t0002g0033 a0001c0001t0004g0106	2	222	0.0090	32	c.-20 others(53): Show c.-201+13872_-201+13873insAGAAAGAAAGAAAGAAAGAAGGAA GGAAGGAA	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKNOX2_chr11_125159751_125438389	125178645	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19057.hp2 HG03041.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0035 a0001c0001t0006g0097 a0001c0001t0001g0035 a0001c0001t0006g0097	2	222	0.0090	32	c.-20 others(53): Show c.-201+13872_-201+13873insAGAAAGAAAGAAAGAAGGAAGGAA GGAAGGAA	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKNOX2_chr11_125159751_125438389	125178645	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0107 a0001c0001t0005g0107	1	222	0.0045	32	c.-20 others(53): Show c.-201+13872_-201+13873insAGAAAGAAGGAAGGAAGGAAGGAA GGAAGGAA	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKNOX2_chr11_125159751_125438389	125178677	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19043.hp2 HG03139.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0167 a0001c0001t0004g0171 a0001c0001t0001g0167 a0001c0001t0004g0171	2	222	0.0090	32	c.-20 others(53): Show c.-201+13903_-201+13904insAAGAAAGAAGGAAGGAAGGAAGGA AGGAAGGA	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP1_chr1_201278506_201337989	201316113	T T	TGGACGGA others(25): Show TGGACGGATGGACGGACGGACGGATGGACGGAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0027 a0003c0007t0027	a0003c0007t0027g0063 a0003c0007t0027g0063	1	334	0.0030	32	c.702 others(47): Show c.702-417_702-416insTGGACGGACGGACGGATGGACGGACGGACG GA	PKP1	ENSG00000081277.13	transcript	ENST00000367324.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKP1_chr1_201278506_201337989	201316121	T T	TGGACGGA others(25): Show TGGACGGACGGACGGATGGACGGACGGACGGAC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0100 a0001c0002t0004g0100	1	334	0.0030	32	c.702 others(47): Show c.702-417_702-416insTGGACGGACGGACGGACGGACGGACGGACG GA	PKP1	ENSG00000081277.13	transcript	ENST00000367324.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKP2_chr12_32785755_32901777	32846745	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18612.hp1 HG02965.hp2 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0006 a0002c0002t0002 a0002c0002t0006	a0002c0002t0002g0237 a0002c0002t0006g0209 a0002c0002t0002g0237 a0002c0002t0006g0209	2	342	0.0059	32	c.137 others(51): Show c.1378+4020_1378+4021insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	5/12			chr12	TogoVar
PKP3_chr11_389209_409908	400887	C C	CGCCCCGC others(25): Show CGCCCCGCTCACACCCGGCCCCGCTCACACCCG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0153 a0001c0003t0001g0153	1	216	0.0046	32	c.173 others(49): Show c.1737+193_1737+194insACCCGGCCCCGCTCACACCCGGCCCCGC TCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401458	C C	CGGCCCCG others(25): Show CGGCCCCGCTCACACCCGCCCCGCTCACCCCCG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	216	0.0046	32	c.173 others(49): Show c.1737+754_1737+755insGCCCCGCTCACACCCGCCCCGCTCACCC CCGG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCCGCT others(25): Show GCCCCGCTCACACCCGCCCCGCTCACCCCCGGC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	216	0.0046	32	c.173 others(49): Show c.1737+850_1737+851insCGCTCACACCCGCCCCGCTCACCCCCGG CCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402628	C C	CGGCTCCA others(25): Show CGGCTCCACTGACCCCGGCCCCGCTCACCCCCG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02723.hp1 HG02129.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0075 a0001c0001t0001g0012 a0001c0001t0001g0075	2	216	0.0093	32	c.173 others(49): Show c.1738-449_1738-448insGCTCCACTGACCCCGGCCCCGCTCACCC CCGG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	403015	C C	CCCCGGAC others(25): Show CCCCGGACCCCGCTCACCCCCGCCCCACTCACA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01496.hp1 HG01934.hp2 others(18): Show HG01358.hp2 HG01496.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02074.hp2 HG02148.hp2 HG02273.hp1 HG02683.hp2 HG03017.hp2 HG03492.hp2 HG03704.hp2 HG03927.hp2 HG04199.hp2 NA18612.hp1 NA18971.hp1 NA18983.hp1 NA19065.hp1 NA20752.hp1	a0001 a0010 a0011 others(2): Show a0001 a0010 a0011 a0015 a0019	a0001c0002 a0001c0003 a0010c0033 others(3): Show a0001c0002 a0001c0003 a0010c0033 a0011c0031 a0015c0032 a0019c0017	a0001c0002t0001 a0001c0003t0001 a0010c0033t0001 others(3): Show a0001c0002t0001 a0001c0003t0001 a0010c0033t0001 a0011c0031t0001 a0015c0032t0001 a0019c0017t0001	a0001c0002t0001g0172 a0001c0003t0001g0095 a0001c0003t0001g0096 others(18): Show a0001c0002t0001g0172 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0108 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0116 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0161 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0166 a0010c0033t0001g0124 a0011c0031t0001g0167 a0015c0032t0001g0157 a0019c0017t0001g0109	21	216	0.0972	32	c.173 others(47): Show c.1738-59_1738-58insGACCCCGCTCACCCCCGCCCCACTCACACC CG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLA2G4A_chr1_186823949_186993981	186857373	G G	GTATTATA others(25): Show GTATTATATAAATGTAATATAATATATAATATA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	310	0.0032	32	c.33+ others(47): Show c.33+2997_33+3028dupATGTAATATAATATATAATATATATTATAT AA	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4A_chr1_186823949_186993981	186934443	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	310	0.0032	32	c.695 others(49): Show c.695+1565_695+1566insTATATATATATATATATATATATATATA TATA	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4C_chr19_48042846_48115817	48055389	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp2 HG02559.hp1 HG02809.hp2	a0005 a0006 a0005 a0006	a0005c0014 a0006c0023 a0005c0014 a0006c0023	a0005c0014t0014 a0006c0023t0001 a0005c0014t0014 a0006c0023t0001	a0005c0014t0014g0278 a0006c0023t0001g0071 a0005c0014t0014g0278 a0006c0023t0001g0071	2	322	0.0062	32	c.125 others(49): Show c.1258-341_1258-340insTATATATATATATATATATATATATATA TATA	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	14/16			chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105929	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	322	0.0031	32	c.9-4 others(43): Show c.9-486_9-485insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16			chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105937	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18943.hp1 NA18967.hp1 HG02132.hp1 NA18943.hp1 NA18967.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0006c0011t0001 a0001c0001t0001 a0006c0011t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0006c0011t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0006c0011t0001g0047	3	322	0.0093	32	c.9-4 others(43): Show c.9-494_9-493insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16			chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105941	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA18971.hp2 HG01975.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0061 a0001c0001t0001g0062	2	322	0.0062	32	c.9-4 others(43): Show c.9-498_9-497insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16			chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105947	C C	CTCCCTCC others(25): Show CTCCCTCCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0125 a0002c0004t0001g0125	1	322	0.0031	32	c.9-5 others(43): Show c.9-504_9-503insAGAAAGAAAGAAAGAAAGAAAGAAAGGAGGGA	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16			chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105947	C C	CTCCTTTC others(25): Show CTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA19004.hp1 HG03704.hp2 NA19004.hp1	a0001 a0008 a0001 a0008	a0001c0020 a0008c0010 a0001c0020 a0008c0010	a0001c0020t0001 a0008c0010t0010 a0001c0020t0001 a0008c0010t0010	a0001c0020t0001g0088 a0008c0010t0010g0087 a0001c0020t0001g0088 a0008c0010t0010g0087	2	322	0.0062	32	c.9-5 others(43): Show c.9-504_9-503insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGA	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16			chr19	TogoVar
PLA2G6_chr22_38106495_38186830	38116851	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	10	0.1000	32	c.174 others(49): Show c.1743-641_1743-640insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PLA2G6	ENSG00000184381.20	transcript	ENST00000332509.8	protein_coding	12/16			chr22	TogoVar
PLAAT3_chr11_63569462_63619433	63615064	G G	GTGTGTGT others(25): Show GTGTGTGTATATGTGTATATATATGTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	352	0.0028	32	c.-73 others(41): Show c.-735_-734insTATATACACATATATATACACATATACACACA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		632		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615076	G G	GTGTGTGT others(25): Show GTGTGTGTATATGTGTATATATATGTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01255.hp2 HG01361.hp2 others(4): Show HG01106.hp2 HG01255.hp2 HG01361.hp2 HG03098.hp1 HG03491.hp1 HG03654.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 others(4): Show a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0005t0001g0322	7	352	0.0199	32	c.-74 others(41): Show c.-747_-746insTATATACACATATATATACACATATACACACA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		644		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615292	A A	ATGTGTGT others(25): Show ATGTGTGTATATATGTGTGTATATATATGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01496.hp1 HG03831.hp2 HG01433.hp2 HG01496.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0329 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0329	3	352	0.0085	32	c.-96 others(41): Show c.-963_-962insCACACATATATATACACACATATATACACACA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		860		chr11	TogoVar
PLAAT5_chr11_63456404_63496167	63483827	A A	ATATATAT others(25): Show ATATATATGTATATATACATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0093 a0002c0004t0008g0093	1	358	0.0028	32	c.345 others(49): Show c.345+5043_345+5044insCATATATATATATATGTATATATACATA TATA	PLAAT5	ENSG00000168004.10	transcript	ENST00000540857.6	protein_coding	3/5			chr11	TogoVar
PLAGL1_chr6_143935300_144013259	143985982	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18967.hp1 NA18955.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0293 a0001c0001t0007g0014 a0001c0001t0002g0293 a0001c0001t0007g0014	2	394	0.0051	32	c.-58 others(49): Show c.-583-809_-583-808insTATATATATATATATATATATATATATA TATA	PLAGL1	ENSG00000118495.21	transcript	ENST00000674357.1	protein_coding	1/7			chr6	TogoVar
PLAT_chr8_42169718_42212565	42203992	T T	TATATATA others(25): Show TATATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03041.hp2 HG03098.hp2 HG02572.hp2 HG03041.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0002 a0001c0002t0001 a0001c0003t0002	a0001c0002t0001g0313 a0001c0002t0001g0322 a0001c0003t0002g0321 a0001c0002t0001g0313 a0001c0002t0001g0322 a0001c0003t0002g0321	3	378	0.0079	32	c.-27 others(49): Show c.-27+3501_-27+3502insGTGTGTGTGTGTGTATATATATATATAT ATAT	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLAT_chr8_42169718_42212565	42203992	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0311 a0001c0002t0001g0311	1	378	0.0027	32	c.-27 others(49): Show c.-27+3501_-27+3502insGTGTATATATATATATATATATATATAT ATAT	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLAUR_chr19_43643579_43675169	43645481	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	442	0.0023	32	c.34 others(43): Show c.3408_*3409insCACACACACACACACACACACACACACACACA	PLAUR	ENSG00000011422.12	transcript	ENST00000340093.8	protein_coding		3097		chr19	TogoVar
PLCB1_chr20_8127266_8889900	8391789	A A	ATATATAT others(25): Show ATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp2 HG02647.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0021 a0001c0001t0010g0008 a0001c0001t0002g0021 a0001c0001t0010g0008	2	106	0.0189	32	c.246 others(51): Show c.246+20362_246+20363insGTGTGTGTGTATATATATATATATAT ATATAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8523490	C C	CCATATAT others(25): Show CCATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01934.hp1 others(1): Show HG00639.hp2 HG01071.hp1 HG01934.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0016 a0001c0002t0003 a0001c0003t0002 others(1): Show a0001c0001t0016 a0001c0002t0003 a0001c0003t0002 a0001c0003t0008	a0001c0001t0016g0058 a0001c0002t0003g0023 a0001c0003t0002g0090 others(1): Show a0001c0001t0016g0058 a0001c0002t0003g0023 a0001c0003t0002g0090 a0001c0003t0008g0004	4	106	0.0377	32	c.247 others(53): Show c.247-104804_247-104803insCATATATATATATATATATATATA TATATATA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31			chr20	TogoVar
PLCB1_chr20_8127266_8889900	8541562	G G	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02630.hp1 HG01261.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0005 a0001c0001t0006 a0001c0002t0005	a0001c0001t0006g0096 a0001c0002t0005g0056 a0001c0001t0006g0096 a0001c0002t0005g0056	2	106	0.0189	32	c.247 others(51): Show c.247-86717_247-86686dupAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8541605	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0029 a0001c0003t0001g0029	1	106	0.0094	32	c.247 others(51): Show c.247-86686_247-86685insAAAGAAAGAAAGAAAGAAAGAAAGAA AGGAAG	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8661993	T T	TAATTATT others(25): Show TAATTATTTATTATATAATTATATATAATATAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp2 HG02922.hp1 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0002 a0001c0003t0001 a0001c0004t0002	a0001c0003t0001g0043 a0001c0004t0002g0065 a0001c0003t0001g0043 a0001c0004t0002g0065	2	106	0.0189	32	c.862 others(49): Show c.862+3318_862+3349dupATACAATTATTTATTATATAATTATATA TAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8662164	C C	CTAATTCT others(25): Show CTAATTCTATATTATATATAATTATTTATTATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0025	1	106	0.0094	32	c.862 others(49): Show c.862+3486_862+3517dupTATTATATAATTCTATATTATATATAAT TATT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8662354	G G	GTAATTAT others(25): Show GTAATTATTTATTATATAATTACGTATAATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0019 a0001c0001t0002g0050 a0001c0001t0010g0008 a0001c0001t0001g0019 a0001c0001t0002g0050 a0001c0001t0010g0008	3	106	0.0283	32	c.862 others(49): Show c.862+3671_862+3672insCGTATAATATATAATTATTTATTATATA ATTA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8662354	G G	GTAATTAT others(25): Show GTAATTATTTATTATATAATTATGTATAATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp1 HG02615.hp1 others(4): Show HG00639.hp1 HG01106.hp1 HG02615.hp1 HG03041.hp1 HG03225.hp2 NA19030.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(3): Show a0001c0001 a0001c0005 a0001c0006 a0001c0011 a0002c0024 a0002c0025	a0001c0001t0002 a0001c0005t0001 a0001c0006t0020 others(3): Show a0001c0001t0002 a0001c0005t0001 a0001c0006t0020 a0001c0011t0003 a0002c0024t0009 a0002c0025t0001	a0001c0001t0002g0078 a0001c0005t0001g0033 a0001c0005t0001g0082 others(4): Show a0001c0001t0002g0078 a0001c0005t0001g0033 a0001c0005t0001g0082 a0001c0006t0020g0074 a0001c0011t0003g0067 a0002c0024t0009g0081 a0002c0025t0001g0044	7	106	0.0660	32	c.862 others(49): Show c.862+3707_862+3738dupATAATATATAATTATTTATTATATAATT ATGT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB2_chr15_40282909_40312935	40285264	G G	GGTCAGGG others(25): Show GGTCAGGGATCTGCCAATTTTCTTTCCTGGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0105 a0001c0003t0001g0105	1	388	0.0026	32	c.34 others(43): Show c.3419_*3450dupACACCAGGAAAGAAAATTGGCAGATCCCTGAC	PLCB2	ENSG00000137841.12	transcript	ENST00000260402.8	protein_coding		2644		chr15	TogoVar
PLCB4_chr20_9064087_9485808	9156819	G G	GCCTCCCT others(25): Show GCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG03579.hp2 HG01928.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0038 a0002c0002t0002g0012 a0001c0001t0001g0038 a0002c0002t0002g0012	2	140	0.0143	32	c.-79 others(51): Show c.-79+60481_-79+60512dupCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCT	PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB4_chr20_9064087_9485808	9156851	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0101	1	140	0.0071	32	c.-79 others(51): Show c.-79+60512_-79+60513insCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCT	PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCD1_chr3_38002496_38034642	38007400	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	362	0.0028	32	c.37 others(41): Show c.372_*373insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PLCD1	ENSG00000187091.14	transcript	ENST00000334661.5	protein_coding		95		chr3	TogoVar
PLCD1_chr3_38002496_38034642	38033976	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0086 a0001c0018t0001g0086	1	362	0.0028	32	c.-44 others(43): Show c.-4438_-4437insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PLCD1	ENSG00000187091.14	transcript	ENST00000334661.5	protein_coding		4335		chr3	TogoVar
PLCD4_chr2_218602899_218642175	218616927	T T	TATATATA others(25): Show TATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	298	0.0034	32	c.181 others(47): Show c.181+866_181+867insTATATATATATATATATAGAGAGAGAGAGA GA	PLCD4	ENSG00000115556.14	transcript	ENST00000450993.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCD4_chr2_218602899_218642175	218616927	T T	TATATATA others(25): Show TATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	298	0.0034	32	c.181 others(47): Show c.181+866_181+867insTATATATATATATATATATATAGAGAGAGA GA	PLCD4	ENSG00000115556.14	transcript	ENST00000450993.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCXD3_chr5_41301952_41515601	41411931	C C	CATATATA others(25): Show CATATATATGTATCCATATATATGTATCCATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18964.hp2 HG02155.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0059 a0001c0001t0001 a0001c0001t0059	a0001c0001t0001g0145 a0001c0001t0059g0033 a0001c0001t0001g0145 a0001c0001t0059g0033	2	244	0.0082	32	c.104 others(51): Show c.104-29429_104-29398dupATATGGATACATATATATGGATACAT ATATAT	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)