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.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PRKCA_chr17_66297613_66815743	66677075	T T	TTTTATTT others(29): Show TTTTATTTATTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01891.hp2 HG02056.hp2 HG01071.hp1 HG01891.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0009 a0001c0002 a0001c0003 a0001c0009	a0001c0002t0003 a0001c0003t0063 a0001c0009t0034 a0001c0002t0003 a0001c0003t0063 a0001c0009t0034	a0001c0002t0003g0031 a0001c0003t0063g0162 a0001c0009t0034g0158 a0001c0002t0003g0031 a0001c0003t0063g0162 a0001c0009t0034g0158	3	178	0.0169	36	c.530 others(55): Show c.530-10014_530-10013insTATTTATTTATTTATTTATTTATTTA TTTATTTATT		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66765418	C C	CTATCTAT others(29): Show CTATCTATATCTATATATCTATATATCTATATATCTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0039 a0001c0001t0042g0039	1	178	0.0056	36	c.152 others(55): Show c.1525-8566_1525-8565insCTATATCTATATATCTATATATCTAT ATATCTATAT		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798759	T T	TGGTGGTG others(29): Show TGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0157 a0001c0001t0004g0157	1	178	0.0056	36	c.185 others(55): Show c.1855-5101_1855-5100insACGGTGGTGGTGGTGGTGGTGACGGT GGTGGTGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798818	A A	ATGGTAAT others(29): Show ATGGTAATGGTGGTGGTGGTGGTGATGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0023 a0001c0001t0019g0023	1	178	0.0056	36	c.185 others(55): Show c.1855-5051_1855-5050insAATGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGT		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCB_chr16_23830983_24225611	23902732	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02735.hp2 HG03017.hp2 HG00609.hp2 HG02735.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0014 a0001c0002t0052 a0001c0011t0063 a0001c0001t0014 a0001c0002t0052 a0001c0011t0063	a0001c0001t0014g0120 a0001c0002t0052g0127 a0001c0011t0063g0067 a0001c0001t0014g0120 a0001c0002t0052g0127 a0001c0011t0063g0067	3	148	0.0203	36	c.205 others(55): Show c.205+65329_205+65330insCCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23902732	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02055.hp1 HG02132.hp1 others(4): Show HG01070.hp2 HG02055.hp1 HG02132.hp1 HG02145.hp1 HG02717.hp1 HG02738.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 others(2): Show a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0012	a0001c0002t0034 a0001c0002t0068 a0001c0004t0077 others(4): Show a0001c0002t0034 a0001c0002t0068 a0001c0004t0077 a0001c0006t0002 a0001c0006t0082 a0001c0008t0037 a0001c0012t0024	a0001c0002t0034g0085 a0001c0002t0068g0050 a0001c0004t0077g0091 others(4): Show a0001c0002t0034g0085 a0001c0002t0068g0050 a0001c0004t0077g0091 a0001c0006t0002g0035 a0001c0006t0082g0093 a0001c0008t0037g0123 a0001c0012t0024g0022	7	148	0.0473	36	c.205 others(55): Show c.205+65329_205+65330insCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCTTCCT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23903938	C C	CCTTATTA others(29): Show CCTTATTAAATATGTGTCGACTAAATGAATATGTGGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0032 a0001c0005t0013g0032	1	148	0.0068	36	c.205 others(55): Show c.205+66571_205+66606dupTATTAAATATGTGTCGACTAAATGAA TATGTGGTCT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23982038	A A	ACCTTCCC others(29): Show ACCTTCCCTTCCCTTCCCTTCCCCTTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0062 a0001c0003t0007g0062	1	148	0.0068	36	c.206 others(53): Show c.206-6463_206-6462insTTCCCTTCCCTTCCCCTTCCCTTCCCTT CCCTTCCC		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24021072	C C	CTCCCTCC others(29): Show CTCCCTCCCTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0028 a0001c0005t0006g0028	1	148	0.0068	36	c.289 others(55): Show c.289-11063_289-11062insCCCTCCCTTCTTTCTTTCTTTCTTTC TTTCTTTCTT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24049257	C C	CCCTGGCA others(29): Show CCCTGGCACATCCGGGACCTGCACCCTTTACCACTAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01123.hp2 HG01243.hp1 others(40): Show HG00738.hp2 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01358.hp2 HG01496.hp1 HG02055.hp1 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18991.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0018	a0001c0001t0008 a0001c0001t0014 a0001c0001t0019 others(39): Show a0001c0001t0008 a0001c0001t0014 a0001c0001t0019 a0001c0001t0033 a0001c0001t0040 a0001c0001t0042 a0001c0001t0056 a0001c0001t0058 a0001c0001t0076 a0001c0001t0079 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0018 a0001c0002t0023 a0001c0002t0070 a0001c0003t0008 a0001c0003t0010 a0001c0003t0025 a0001c0003t0044 a0001c0003t0047 a0001c0003t0064 a0001c0003t0071 a0001c0003t0075 a0001c0003t0085 a0001c0004t0009 a0001c0004t0072 a0001c0004t0086 a0001c0004t0087 a0001c0005t0003 a0001c0005t0008 a0001c0005t0013 a0001c0005t0051 a0001c0006t0006 a0001c0006t0082 a0001c0007t0054 a0001c0009t0038 a0001c0009t0073 a0001c0010t0006 a0001c0011t0002 a0001c0012t0024 a0001c0018t0008	a0001c0001t0008g0054 a0001c0001t0014g0120 a0001c0001t0019g0102 others(40): Show a0001c0001t0008g0054 a0001c0001t0014g0120 a0001c0001t0019g0102 a0001c0001t0033g0060 a0001c0001t0040g0018 a0001c0001t0042g0001 a0001c0001t0056g0109 a0001c0001t0058g0072 a0001c0001t0076g0100 a0001c0001t0079g0142 a0001c0002t0011g0021 a0001c0002t0012g0098 a0001c0002t0013g0020 a0001c0002t0018g0002 a0001c0002t0023g0080 a0001c0002t0070g0045 a0001c0003t0008g0140 a0001c0003t0010g0143 a0001c0003t0025g0016 a0001c0003t0044g0131 a0001c0003t0047g0055 a0001c0003t0064g0147 a0001c0003t0071g0046 a0001c0003t0075g0019 a0001c0003t0085g0073 a0001c0004t0009g0011 a0001c0004t0072g0094 a0001c0004t0086g0024 a0001c0004t0087g0023 a0001c0005t0003g0042 a0001c0005t0008g0027 a0001c0005t0013g0032 a0001c0005t0051g0040 a0001c0006t0006g0015 a0001c0006t0006g0043 a0001c0006t0082g0093 a0001c0007t0054g0095 a0001c0009t0038g0056 a0001c0009t0073g0031 a0001c0010t0006g0144 a0001c0011t0002g0136 a0001c0012t0024g0022 a0001c0018t0008g0048	43	148	0.2905	36	c.529 others(55): Show c.529+13745_529+13746insACCTGGCACATCCGGGACCTGCACCC TTTACCACTA		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24049269	C C	CGGGACCT others(29): Show CGGGACCTGCACCCTTTACCACTAACCTGGCACATCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0078 a0001c0005t0078	a0001c0005t0078g0014 a0001c0005t0078g0014	1	148	0.0068	36	c.529 others(55): Show c.529+13745_529+13746insACCTGGCACATCTGGGACCTGCACCC TTTACCACTA		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24182873	T T	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0087 a0001c0004t0087	a0001c0004t0087g0023 a0001c0004t0087g0023	1	148	0.0068	36	c.153 others(55): Show c.1533+1974_1533+1975insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCE_chr2_45646675_46192990	45941065	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0052 a0002c0004t0004g0052	1	168	0.0060	36	c.413 others(55): Show c.413-35342_413-35341insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA		PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCG_chr19_53877197_53912652	53906075	C C	CCTTCTTC others(29): Show CCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0036 a0001c0005t0001g0036	1	362	0.0028	36	c.176 others(53): Show c.1765-240_1765-239insTCTTCTTCTTCCTCTTCTTCTTCTTCTT CTTCTTCT		PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906081	C C	CCTTCTTC others(29): Show CCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	362	0.0028	36	c.176 others(53): Show c.1765-234_1765-233insTCTTCTTCTTCCTCTTCTTCTTCTTCTT CTTCTTCT		PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906081	C C	CCTTCTTC others(29): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0199 a0001c0002t0001g0199	1	362	0.0028	36	c.176 others(53): Show c.1765-234_1765-233insTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCT		PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTCCTCC others(29): Show CCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0010 a0002c0013t0002g0010	1	362	0.0028	36	c.176 others(53): Show c.1765-231_1765-230insCCTCCTCCTCCTTCTTCTTCTTCTTCTT CTTCTTCT		PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTCCTCC others(29): Show CCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0031 a0001c0005t0004g0031	1	362	0.0028	36	c.176 others(53): Show c.1765-231_1765-230insCCTCCTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCT		PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCG_chr19_53877197_53912652	53906084	C C	CCTCCTTC others(29): Show CCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0300 a0001c0002t0001g0300	1	362	0.0028	36	c.176 others(53): Show c.1765-231_1765-230insCCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCT		PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr19	TogoVar
PRKCZ_chr1_2045411_2190395	2080325	A A	AGTGCGCG others(29): Show AGTGCGCGTGGACGTGGCGGTGCGCGTGGACGTGGCG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp2 HG01123.hp1 others(25): Show HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01243.hp2 HG02258.hp1 HG02258.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0017 a0003c0005t0016	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(25): Show a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0015g0014 a0001c0001t0017g0019 a0003c0005t0016g0180	28	286	0.0979	36	c.334 others(55): Show c.334+20769_334+20770insGGTGCGCGTGGACGTGGCGGTGCGCG TGGACGTGGC		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122541	G G	GGTTAGGG others(29): Show GGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	286	0.0035	36	c.335 others(55): Show c.335-12711_335-12710insTGGTGGTAGTTAGGGTCACGGCTGTA GTTAGGGTCA		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122568	C C	CGTGGTGG others(29): Show CGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	286	0.0035	36	c.335 others(55): Show c.335-12680_335-12679insCGTGGCGGTGGTTAGGGTCACGGTGG TGGTTAGGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122952	G G	GGTAGTTA others(29): Show GGTAGTTAGGGTCATGGCTGTAGTTAGGATCATGGCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0125 a0001c0003t0001g0125	1	286	0.0035	36	c.335 others(55): Show c.335-12294_335-12293insCTGTAGTTAGGATCATGGCTGTAGTT AGGGTCATGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123100	C C	CGGCTGTA others(29): Show CGGCTGTAGTTAGGGTCATGGCTGTAGTTAGGGTCAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	286	0.0035	36	c.335 others(55): Show c.335-12160_335-12159insCTGTAGTTAGGGTCATGGCTGTAGTT AGGGTCATGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123588	C C	CGGCTGTA others(29): Show CGGCTGTAGTTAGGGTCATGGCTGTAGTTAGGGTCAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	286	0.0035	36	c.335 others(55): Show c.335-11672_335-11671insCTGTAGTTAGGGTCATGGCTGTAGTT AGGGTCATGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123660	C C	CAGCGATA others(29): Show CAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19064.hp1 NA18969.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0034 a0001c0002t0002g0041 a0001c0001t0002g0034 a0001c0002t0002g0041	2	286	0.0070	36	c.335 others(55): Show c.335-11602_335-11601insAGCGATAGTTAGCATCATGGTGGTAG TTAGGGTCAT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123957	C C	CGGCTATA others(29): Show CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19064.hp1 NA18969.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0034 a0001c0002t0002g0041 a0001c0001t0002g0034 a0001c0002t0002g0041	2	286	0.0070	36	c.335 others(55): Show c.335-11302_335-11301insTATAGTTGGGGTCATGGTGGTAGTTA GGATCATGGC		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124065	C C	CTGTAGTT others(29): Show CTGTAGTTAGCATCATGGTGGTAGTTAGGGTCATGGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02080.hp1 HG00558.hp2 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0096 a0001c0002t0001g0100	2	286	0.0070	36	c.335 others(55): Show c.335-11197_335-11196insTGTAGTTAGCATCATGGTGGTAGTTA GGGTCATGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124085	G G	GCGGTTAG others(29): Show GCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	286	0.0035	36	c.335 others(55): Show c.335-11160_335-11159insGCGGTTAGGGTCACGGCGACGGTTAG GGTCACGGCG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124289	A A	AGGGTCAT others(29): Show AGGGTCATGGTGGTAGTTGGGGTCACGGCTATAGTTG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG06807.hp1 NA19087.hp1 HG01978.hp2 HG06807.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0049 a0001c0001t0001g0080 a0001c0001t0002g0024 a0001c0001t0001g0049 a0001c0001t0001g0080 a0001c0001t0002g0024	3	286	0.0105	36	c.335 others(55): Show c.335-10972_335-10971insGGTCATGGTGGTAGTTGGGGTCACGG CTATAGTTGG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKD2_chr19_46669316_46722114	46680946	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	378	0.0027	36	c.207 others(53): Show c.2070+703_2070+704insAAAAAAAATATATATATATATATATATA TATATATA		PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17						chr19	TogoVar
PRKDC_chr8_47768111_47965136	47885577	C C	CATATTTC others(29): Show CATATTTCAGGAATTCCTGTATATTTCAGGAATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0170	1	198	0.0051	36	c.477 others(53): Show c.4776+366_4776+367insATATATTCCTGAAATATACAGGAATTCC TGAAATAT		PRKDC	ENSG00000253729.9	transcript	ENST00000314191.7	protein_coding	36/85						chr8	TogoVar
PRKG1_chr10_51069487_52303350	51115372	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02965.hp2 HG00140.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0002c0004t0001 a0001c0001t0003 a0002c0004t0001	a0001c0001t0003g0023 a0002c0004t0001g0044 a0001c0001t0003g0023 a0002c0004t0001g0044	2	64	0.0313	36	c.312 others(55): Show c.312-37779_312-37778insTATATATATATATATATATATATATA TATATATATA		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51570049	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	64	0.0156	36	c.592 others(57): Show c.592+102232_592+102233insATATATATATATATATATATATAT ATATATATATAT		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51627879	C C	CCCTTCCC others(29): Show CCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	64	0.0156	36	c.592 others(57): Show c.592+160057_592+160092dupCCCTTCCTTCCCTTCCTTCCCTTC CTTCCCTTCCTT		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKX_chrX_3599340_3718649	3685261	A A	ATCCTCCT others(29): Show ATCCTCCTTTCTCCCTTTTTCCTTCCTCTTCTTTCCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02280.hp2 HG03471.hp1 others(1): Show HG00639.hp2 HG02280.hp2 HG03471.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0012 a0001c0001 a0001c0007 a0002c0012	a0001c0001t0044 a0001c0001t0136 a0001c0007t0025 others(1): Show a0001c0001t0044 a0001c0001t0136 a0001c0007t0025 a0002c0012t0011	a0001c0001t0044g0051 a0001c0001t0136g0226 a0001c0007t0025g0044 others(1): Show a0001c0001t0044g0051 a0001c0001t0136g0226 a0001c0007t0025g0044 a0002c0012t0011g0187	4	227	0.0176	36	c.167 others(55): Show c.167-10496_167-10495insAGGAAAGAAGAGGAAGGAAAAAGGGA GAAAGGAGGA		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	1/8						chrX	TogoVar
PRLR_chr5_35050702_35235487	35074504	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02258.hp2 NA18942.hp2 others(1): Show HG01192.hp2 HG02258.hp2 NA18942.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0025 a0002c0002t0003 a0002c0002t0055 a0001c0001t0025 a0002c0002t0003 a0002c0002t0055	a0001c0001t0025g0162 a0002c0002t0003g0022 a0002c0002t0003g0023 others(1): Show a0001c0001t0025g0162 a0002c0002t0003g0022 a0002c0002t0003g0023 a0002c0002t0055g0205	4	214	0.0187	36	c.374 others(53): Show c.374-1761_374-1760insATATATATATATATATATATATATATAT ATATATAT		PRLR	ENSG00000113494.17	transcript	ENST00000618457.5	protein_coding	5/9						chr5	TogoVar
PRMT3_chr11_20382716_20514338	20504707	T T	TGTGTGAG others(29): Show TGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	380	0.0026	36	c.148 others(55): Show c.1487-3596_1487-3595insTGTGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAG		PRMT3	ENSG00000185238.13	transcript	ENST00000331079.11	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
PRMT7_chr16_68306019_68363584	68344933	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03471.hp2 HG03098.hp1 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0027 a0001c0005t0007g0028 a0001c0005t0007g0027 a0001c0005t0007g0028	2	284	0.0070	36	c.928 others(51): Show c.928-718_928-717insACACACACACACACACACACACACACACAC ACACAC		PRMT7	ENSG00000132600.18	transcript	ENST00000441236.3	protein_coding	9/18					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	364	0.0028	36	c.75+ others(51): Show c.75+4515_75+4516insATATATATATATATATATATATATATATAT ATATTT		PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PROP1_chr5_177987235_178001242	177988881	A A	ATATATAT others(29): Show ATATATATATATACATCTGTATATATATACACATCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02809.hp1 HG03195.hp1 HG01884.hp2 HG02809.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0001t0001g0027 a0001c0001t0001g0046	3	436	0.0069	36	c.38 others(47): Show c.3827_*3828insCAGATGTGTATATATATACAGATGTATATATATA TA		PROP1	ENSG00000175325.2	transcript	ENST00000308304.2	protein_coding					3353		chr5	TogoVar
PRPF38B_chr1_108687310_108707928	108689608	T T	TAACATTA others(29): Show TAACATTATATATATATATATATATATATAAAATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	362	0.0028	36	c.-29 others(47): Show c.-2984_-2983insAACATTATATATATATATATATATATATAAAATG TG		PRPF38B	ENSG00000134186.12	transcript	ENST00000370025.9	protein_coding					2701		chr1	TogoVar
PRPF3_chr1_150316533_150358233	150320839	G G	GGGAGAAA others(29): Show GGGAGAAAGGGTTTACTTTCTACCAGAAAGGCTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0351	1	362	0.0028	36	c.-80 others(45): Show c.-802_-801insGGAGAAAGGGTTTACTTTCTACCAGAAAGGCTGTGT		PRPF3	ENSG00000117360.13	transcript	ENST00000324862.7	protein_coding					693		chr1	TogoVar
PRPF6_chr20_63976132_64038100	64017274	G G	GCCCCTCC others(29): Show GCCCCTCCCAAAGTGCTGGGATCACAGGCGTGAGCCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02615.hp2 HG01884.hp2 HG02486.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0005 a0001c0001t0005 a0001c0004t0005	a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0004t0005g0243 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0004t0005g0243	3	294	0.0102	36	c.164 others(53): Show c.1647+431_1647+432insCCTCCCAAAGTGCTGGGATCACAGGCGT GAGCCACC		PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	12/20					INFO_REALIGN_3_PRIME	chr20	TogoVar
PRPS1L1_chr7_18021770_18032846	18030651	T T	TATATATA others(29): Show TATATATATATATATATATATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	462	0.0022	36	c.-28 others(47): Show c.-2870_-2869insGTGTGTGTGTATATATATATATATATATATATAT AT		PRPS1L1	ENSG00000229937.9	transcript	ENST00000506618.5	protein_coding					2806	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
PRR13_chr12_53436734_53451638	53450293	A A	AATATAAT others(29): Show AATATAATGTGTGGCTTTTGCTTGGATCCTGGGTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	388	0.0026	36	c.42 others(47): Show c.4234_*4235insATATAATGTGTGGCTTTTGCTTGGATCCTGGGTT TC		PRR13	ENSG00000205352.11	transcript	ENST00000429243.7	protein_coding					3656		chr12	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0077 a0002c0002t0003g0077	1	316	0.0032	36	c.79 others(47): Show c.7922_*7923insATATATATATATATATATATATATATTTTTTTTT TT		PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding					3742		chr22	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(29): Show AAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0086 a0002c0002t0011g0086	1	316	0.0032	36	c.79 others(47): Show c.7922_*7923insATATATATATATATATATATATATATATATTTTT TT		PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding					3742		chr22	TogoVar
PRR14L_chr22_31676347_31755132	31747994	A A	AATCAGAA others(29): Show AATCAGAAAAAAAAAAACCAAAACCCACAAAACAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02896.hp2 HG03209.hp2 HG02145.hp1 HG02896.hp2 HG03209.hp2	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0016 a0015c0018t0016	a0015c0018t0016g0011 a0015c0018t0016g0012 a0015c0018t0016g0013 a0015c0018t0016g0011 a0015c0018t0016g0012 a0015c0018t0016g0013	3	316	0.0095	36	c.-52 others(53): Show c.-52+1998_-52+1999insCTTTGTTTTGTGGGTTTTGGTTTTTTTT TTTCTGAT		PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding	1/8						chr22	TogoVar
PRR36_chr19_7863719_7879390	7870537	C C	CAGGGGGA others(29): Show CAGGGGGAGAGAAAGGGGCCTGCACTGGGGGTGAGGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02965.hp2 HG03669.hp2 NA18522.hp1 HG02965.hp2 HG03669.hp2 NA18522.hp1	a0011 a0032 a0011 a0032	a0011c0017 a0032c0027 a0011c0017 a0032c0027	a0011c0017t0001 a0032c0027t0001 a0011c0017t0001 a0032c0027t0001	a0011c0017t0001g0021 a0032c0027t0001g0051 a0011c0017t0001g0021 a0032c0027t0001g0051	3	386	0.0078	36	c.267 others(45): Show c.2671_2706dupCCCTCACCCCCAGTGCAGGCCCCTTTCTCTCCCCCT	p.Pro others(49): Show p.Pro902_Ala903insProSerProProValGlnAlaProPheSerPr oPro	PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding	5/6	2818/4467	2706/4041	902/1346			chr19	TogoVar

Search by Variant

Search

Search Results (Total: 8848 hits)