Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PRKCB_chr16_23830983_24225611	23902732	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01243.hp1 others(4): Show HG01070.hp1 HG01071.hp2 HG01243.hp1 HG02602.hp1 HG02896.hp2 HG03486.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0001 a0001c0002t0023 a0001c0002t0031 others(4): Show a0001c0002t0001 a0001c0002t0023 a0001c0002t0031 a0001c0003t0010 a0001c0003t0075 a0001c0005t0005 a0001c0005t0015	a0001c0002t0001g0003 a0001c0002t0023g0079 a0001c0002t0031g0121 others(4): Show a0001c0002t0001g0003 a0001c0002t0023g0079 a0001c0002t0031g0121 a0001c0003t0010g0143 a0001c0003t0075g0019 a0001c0005t0005g0034 a0001c0005t0015g0038	7	148	0.0473	28	c.205 others(47): Show c.205+65329_205+65330insCCCTCCCTCCCTCCCTCCCTTCCTTC CT	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(21): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01168.hp1 others(19): Show HG00642.hp2 HG00738.hp1 HG01168.hp1 HG02258.hp1 HG02559.hp1 HG02559.hp2 HG02698.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 NA18522.hp2 NA18906.hp1 NA18969.hp2 NA19030.hp2 NA19240.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0010 a0001c0014 a0001c0016	a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 others(17): Show a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0022 a0001c0001t0036 a0001c0001t0049 a0001c0001t0060 a0001c0001t0076 a0001c0001t0079 a0001c0002t0005 a0001c0002t0012 a0001c0003t0064 a0001c0003t0065 a0001c0003t0074 a0001c0005t0006 a0001c0007t0001 a0001c0010t0061 a0001c0010t0088 a0001c0014t0001 a0001c0016t0004	a0001c0001t0008g0054 a0001c0001t0011g0112 a0001c0001t0017g0070 others(19): Show a0001c0001t0008g0054 a0001c0001t0011g0112 a0001c0001t0017g0070 a0001c0001t0022g0126 a0001c0001t0036g0110 a0001c0001t0049g0101 a0001c0001t0060g0108 a0001c0001t0076g0100 a0001c0001t0079g0142 a0001c0002t0005g0065 a0001c0002t0012g0098 a0001c0002t0012g0145 a0001c0002t0012g0148 a0001c0003t0064g0147 a0001c0003t0065g0119 a0001c0003t0074g0141 a0001c0005t0006g0028 a0001c0007t0001g0116 a0001c0010t0061g0111 a0001c0010t0088g0099 a0001c0014t0001g0107 a0001c0016t0004g0133	22	148	0.1487	28	c.205 others(47): Show c.205+65329_205+65330insCCCTCCCTCCCTCCCTTCCTTCCTTC CT	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(21): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01106.hp1 HG01168.hp2 others(13): Show HG00609.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01496.hp2 HG02698.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG03209.hp2 HG03540.hp2 NA18969.hp1 NA18970.hp1 NA18983.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0013	a0001c0001t0007 a0001c0001t0019 a0001c0001t0020 others(12): Show a0001c0001t0007 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0058 a0001c0001t0081 a0001c0002t0018 a0001c0002t0050 a0001c0002t0055 a0001c0003t0001 a0001c0003t0007 a0001c0003t0024 a0001c0004t0002 a0001c0004t0009 a0001c0013t0048	a0001c0001t0007g0005 a0001c0001t0019g0102 a0001c0001t0020g0084 others(13): Show a0001c0001t0007g0005 a0001c0001t0019g0102 a0001c0001t0020g0084 a0001c0001t0021g0006 a0001c0001t0058g0072 a0001c0001t0081g0081 a0001c0002t0018g0088 a0001c0002t0050g0008 a0001c0002t0055g0114 a0001c0003t0001g0064 a0001c0003t0007g0062 a0001c0003t0007g0063 a0001c0003t0024g0057 a0001c0004t0002g0039 a0001c0004t0009g0092 a0001c0013t0048g0047	16	148	0.1081	28	c.205 others(47): Show c.205+65329_205+65330insCCCTCCCTCCCTTCCTTCCTTCCTTC CT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23980798	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0054 a0001c0007t0054	a0001c0007t0054g0095 a0001c0007t0054g0095	1	148	0.0068	28	c.206 others(45): Show c.206-7694_206-7693insATATATATATATATATATATATATATAT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24021295	C C	CTTCCCTT others(21): Show CTTCCCTTCCTTCCTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01358.hp1 HG02015.hp1 HG01106.hp2 HG01358.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0003t0001 a0001c0008t0016 a0001c0001t0001 a0001c0003t0001 a0001c0008t0016	a0001c0001t0001g0115 a0001c0003t0001g0128 a0001c0008t0016g0125 a0001c0001t0001g0115 a0001c0003t0001g0128 a0001c0008t0016g0125	3	148	0.0203	28	c.289 others(47): Show c.289-10837_289-10836insCTTCCTTCCTCTTTCTTTCTTTCTTT CC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24182873	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp1 HG02155.hp2 others(7): Show HG01106.hp1 HG01243.hp1 HG02155.hp2 HG02602.hp1 HG02630.hp2 HG02735.hp2 HG03130.hp2 HG03669.hp1 NA18969.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0016	a0001c0001t0014 a0001c0002t0003 a0001c0002t0031 others(7): Show a0001c0001t0014 a0001c0002t0003 a0001c0002t0031 a0001c0003t0001 a0001c0003t0004 a0001c0003t0044 a0001c0003t0064 a0001c0003t0075 a0001c0004t0086 a0001c0016t0004	a0001c0001t0014g0120 a0001c0002t0003g0061 a0001c0002t0031g0121 others(7): Show a0001c0001t0014g0120 a0001c0002t0003g0061 a0001c0002t0031g0121 a0001c0003t0001g0064 a0001c0003t0004g0076 a0001c0003t0044g0131 a0001c0003t0064g0147 a0001c0003t0075g0019 a0001c0004t0086g0024 a0001c0016t0004g0133	10	148	0.0676	28	c.153 others(47): Show c.1533+1947_1533+1974dupGTGTGTGTGTGTGTGTGTGTGTGTGT GT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCE_chr2_45646675_46192990	45751809	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03209.hp2 HG02622.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0003 a0001c0001t0004g0063 a0001c0001t0002g0003 a0001c0001t0004g0063	2	168	0.0119	28	c.349 others(47): Show c.349-91165_349-91164insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCE_chr2_45646675_46192990	45958791	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	168	0.0060	28	c.413 others(47): Show c.413-17612_413-17611insATATATATATATATATATATATATAT AT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCE_chr2_45646675_46192990	46097519	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	168	0.0060	28	c.159 others(49): Show c.1592+11175_1592+11176insAAAAAAAAAAAAAAAAAAAAAAAA AAAA	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCE_chr2_45646675_46192990	46123214	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0086 a0001c0001t0018g0086	1	168	0.0060	28	c.159 others(49): Show c.1593-21877_1593-21850dupTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCE_chr2_45646675_46192990	46178123	G G	GGATCTCT others(21): Show GGATCTCTCTCTATTCTCTCGTTGTTGTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	168	0.0060	28	c.206 others(47): Show c.2068-6611_2068-6610insATCTCTCTCTATTCTCTCGTTGTTGT TG	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKD1_chr14_29571479_29932847	29826854	T T	TACATATA others(21): Show TACATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02976.hp2 HG01884.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0064 a0001c0003t0003g0138 a0001c0001t0001g0064 a0001c0003t0003g0138	2	156	0.0128	28	c.264 others(49): Show c.264+100394_264+100395insGTGTGTATATATATATATATATAT ATGT	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17			chr14	TogoVar
PRKD2_chr19_46669316_46722114	46680928	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA20300.hp1 HG01884.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0280 a0001c0001t0001g0281	2	378	0.0053	28	c.207 others(45): Show c.2070+721_2070+722insAATATATATATATATATATATATATATA	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17			chr19	TogoVar
PRKD2_chr19_46669316_46722114	46680946	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0326 a0001c0001t0002g0326	1	378	0.0027	28	c.207 others(45): Show c.2070+703_2070+704insAATATATATATATATATATATATATATA	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17			chr19	TogoVar
PRKD2_chr19_46669316_46722114	46680946	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	378	0.0027	28	c.207 others(45): Show c.2070+703_2070+704insAAAAAAAATATATATATATATATATATA	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17			chr19	TogoVar
PRKD3_chr2_37245502_37329833	37249643	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02922.hp1 HG03139.hp1 others(5): Show HG02080.hp2 HG02922.hp1 HG03139.hp1 NA18952.hp2 NA18964.hp2 NA18965.hp2 NA19000.hp2 NA19064.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0007 a0001c0002 a0001c0003 a0003c0007	a0001c0002t0001 a0001c0002t0021 a0001c0002t0022 others(2): Show a0001c0002t0001 a0001c0002t0021 a0001c0002t0022 a0001c0003t0004 a0003c0007t0012	a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0147 others(5): Show a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0147 a0001c0002t0001g0310 a0001c0002t0021g0156 a0001c0002t0022g0305 a0001c0003t0004g0222 a0003c0007t0012g0245	8	388	0.0206	28	c.35 others(39): Show c.3506_*3533dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PRKD3	ENSG00000115825.11	transcript	ENST00000234179.8	protein_coding		858		chr2	TogoVar
PRKG1_chr10_51069487_52303350	51115372	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03579.hp2 HG01099.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0051 a0001c0001t0010g0042 a0001c0001t0001g0051 a0001c0001t0010g0042	2	64	0.0313	28	c.312 others(47): Show c.312-37779_312-37778insTATATATATATATATATATATATATA TA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51115384	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0025	1	64	0.0156	28	c.312 others(47): Show c.312-37779_312-37778insTATATATATATATATATATATATATA AA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51553986	A A	ATGCGTAT others(21): Show ATGCGTATGTGATACGTGCATATTATATG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0012 a0001c0001t0013g0012	1	64	0.0156	28	c.592 others(47): Show c.592+86168_592+86195dupCATATTATATGTGCGTATGTGATACG TG	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51570067	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02922.hp2 HG02615.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0001 a0001c0001t0003 a0001c0008t0001	a0001c0001t0003g0009 a0001c0008t0001g0020 a0001c0001t0003g0009 a0001c0008t0001g0020	2	64	0.0313	28	c.592 others(49): Show c.592+102232_592+102233insATATATATATATATATATATATAT ATGT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51570067	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0049 a0003c0009t0001g0049	1	64	0.0156	28	c.592 others(49): Show c.592+102232_592+102233insATATATATATATATATATATATAT GTGT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51578980	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	64	0.0156	28	c.592 others(49): Show c.592+111145_592+111172dupTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51899671	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	64	0.0156	28	c.699 others(45): Show c.699-7812_699-7811insTATATATATATATATATATATATATATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52166799	A A	ATATATGT others(21): Show ATATATGTATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00738.hp2 others(7): Show HG00140.hp1 HG00639.hp1 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01192.hp2 HG01496.hp2 HG03834.hp1 HG03834.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0009 a0001c0001 a0002c0004 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0002c0004t0001 a0002c0004t0004 a0003c0009t0001	a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0051 others(7): Show a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0002g0043 a0001c0001t0004g0035 a0001c0001t0005g0061 a0002c0004t0001g0044 a0002c0004t0004g0053 a0003c0009t0001g0049	10	64	0.1563	28	c.107 others(47): Show c.1076+4841_1076+4842insGTATATATATGTATATATATATGTAT AT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52224808	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03225.hp1 HG00738.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0063 a0001c0002t0002g0025 a0001c0001t0002g0063 a0001c0002t0002g0025	2	64	0.0313	28	c.107 others(49): Show c.1077-26758_1077-26731dupTATATATATATATATATATATATA TATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52224836	T T	TATATATA others(21): Show TATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0037 a0001c0005t0002g0037	1	64	0.0156	28	c.107 others(49): Show c.1077-26731_1077-26730insTATATATATATATATATATACATA CATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG2_chr4_81082375_81220222	81092465	A A	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0079 a0001c0001t0004g0079	1	250	0.0040	28	c.212 others(43): Show c.2127-41_2127-14dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT	PRKG2	ENSG00000138669.10	transcript	ENST00000264399.6	protein_coding	17/18			chr4	TogoVar
PRKN_chr6_161342417_162732766	161757833	A A	ATCTCTCT others(21): Show ATCTCTCTCCCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	32	0.0313	28	c.871 others(47): Show c.871+27938_871+27939insGAGAGAGAGAGAGAGAGAGGGAGAGA GA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161874631	T T	TGAATATA others(21): Show TGAATATATTACATGTAAAATGTACAATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0014 a0001c0008t0010g0014	1	32	0.0313	28	c.735 others(47): Show c.735-88724_735-88723insTATTGTACATTTTACATGTAATATAT TC	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161897966	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	32	0.0313	28	c.734 others(47): Show c.734+75335_734+75336insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161902546	C C	CTATCTAT others(21): Show CTATCTATCTATCTATCTATCTATCTATT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03704.hp2 HG02976.hp2 HG03704.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0002 a0005c0011t0012 a0001c0001t0002 a0005c0011t0012	a0001c0001t0002g0005 a0005c0011t0012g0009 a0001c0001t0002g0005 a0005c0011t0012g0009	2	32	0.0625	28	c.734 others(47): Show c.734+70755_734+70756insAATAGATAGATAGATAGATAGATAGA TA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161906659	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03041.hp2 HG02922.hp2 HG03041.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0003c0006t0003 a0001c0001t0002 a0003c0006t0003	a0001c0001t0002g0023 a0003c0006t0003g0004 a0001c0001t0002g0023 a0003c0006t0003g0004	2	32	0.0625	28	c.734 others(47): Show c.734+66642_734+66643insATATATATATATATATATATATATAT AT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162359079	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0015 a0003c0005t0001g0015	1	32	0.0313	28	c.171 others(47): Show c.171+84230_171+84231insATATATATATATATATATATATATAT TT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162390396	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	32	0.0313	28	c.171 others(47): Show c.171+52913_171+52914insGTATATATATATATATATATATATAT AT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11			chr6	TogoVar
PRKRIP1_chr7_102391363_102431666	102431115	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0250 a0001c0001t0003g0250	1	382	0.0026	28	c.60 others(39): Show c.6004_*6005insTGTGTGTGTGTGTGTGTGTGTGTGTGTG	PRKRIP1	ENSG00000128563.13	transcript	ENST00000397912.3	protein_coding		4450		chr7	TogoVar
PRKRIP1_chr7_102391363_102431666	102431117	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01261.hp1 HG02647.hp2 others(14): Show HG00738.hp2 HG01261.hp1 HG02647.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp2 NA18947.hp1 NA18955.hp1 NA18965.hp1 NA18968.hp1 NA18977.hp1 NA18979.hp1 NA18986.hp2 NA18999.hp2 NA19000.hp2 NA19030.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0135 others(11): Show a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0168 a0001c0001t0001g0195 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0271 a0001c0001t0002g0001 a0001c0001t0011g0182	17	382	0.0445	28	c.60 others(39): Show c.6006_*6007insTGTGTGTGTGTGTGTGTGTGTGTGTGTG	PRKRIP1	ENSG00000128563.13	transcript	ENST00000397912.3	protein_coding		4452		chr7	TogoVar
PRLR_chr5_35050702_35235487	35074504	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp2 HG02622.hp2 others(1): Show HG01109.hp2 HG02451.hp2 HG02622.hp2 HG02809.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0016 a0001c0001t0032 a0001c0001t0054 others(1): Show a0001c0001t0016 a0001c0001t0032 a0001c0001t0054 a0002c0002t0007	a0001c0001t0016g0114 a0001c0001t0032g0076 a0001c0001t0054g0203 others(1): Show a0001c0001t0016g0114 a0001c0001t0032g0076 a0001c0001t0054g0203 a0002c0002t0007g0115	4	214	0.0187	28	c.374 others(45): Show c.374-1761_374-1760insATATATATATATATATATATATATATAT	PRLR	ENSG00000113494.17	transcript	ENST00000618457.5	protein_coding	5/9			chr5	TogoVar
PRMT3_chr11_20382716_20514338	20504707	T T	TGTGAGAG others(21): Show TGTGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	380	0.0026	28	c.148 others(47): Show c.1487-3596_1487-3595insTGAGAGAGAGAGAGAGAGAGAGAGAG AG	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(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03669.hp2 HG03704.hp1 others(4): Show HG03654.hp2 HG03669.hp2 HG03704.hp1 NA18940.hp1 NA18991.hp2 NA19030.hp2 NA19055.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0010 others(2): Show a0001c0003 a0001c0005 a0001c0010 a0001c0017 a0001c0018	a0001c0003t0002 a0001c0005t0007 a0001c0010t0002 others(2): Show a0001c0003t0002 a0001c0005t0007 a0001c0010t0002 a0001c0017t0002 a0001c0018t0002	a0001c0003t0002g0004 a0001c0003t0002g0107 a0001c0005t0007g0034 others(3): Show a0001c0003t0002g0004 a0001c0003t0002g0107 a0001c0005t0007g0034 a0001c0010t0002g0109 a0001c0017t0002g0038 a0001c0018t0002g0095	7	284	0.0247	28	c.928 others(43): Show c.928-718_928-717insACACACACACACACACACACACACACAC	PRMT7	ENSG00000132600.18	transcript	ENST00000441236.3	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRMT7_chr16_68306019_68363584	68344933	T T	TACACACA others(21): Show TACACACACACACACACACATACACACAC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	284	0.0035	28	c.928 others(43): Show c.928-723_928-722insTACACACACACACACACACACACACACA	PRMT7	ENSG00000132600.18	transcript	ENST00000441236.3	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRMT7_chr16_68306019_68363584	68344933	T T	TACACACA others(21): Show TACACACACACACACACATACACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02895.hp2 HG02897.hp2 others(1): Show HG01346.hp1 HG02895.hp2 HG02897.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0002 a0001c0001t0004 a0001c0004t0002	a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0004t0002g0023 others(1): Show a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0004t0002g0023 a0001c0004t0002g0024	4	284	0.0141	28	c.928 others(43): Show c.928-725_928-724insTACACACACACACACACACACACACACA	PRMT7	ENSG00000132600.18	transcript	ENST00000441236.3	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRMT8_chr12_3486203_3598973	3490675	A A	AAGAGAGA others(21): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	364	0.0028	28	c.-95 others(37): Show c.-951_-950insAGAGAGAGAGAGAGAGAGAGAGAGAGAG	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding		527		chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	364	0.0028	28	c.75+ others(43): Show c.75+4515_75+4516insATATATATATATATATATATATATATTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	364	0.0028	28	c.75+ others(43): Show c.75+4515_75+4516insATATATATATATATATATATATATTTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	364	0.0028	28	c.75+ others(43): Show c.75+4515_75+4516insATATATATATATATATATATTTTTTTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	364	0.0028	28	c.75+ others(43): Show c.75+4515_75+4516insATATATATATATATATATTTTTTTTTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0102 a0001c0002t0002g0102	1	364	0.0028	28	c.75+ others(43): Show c.75+4515_75+4516insATATATATATATATATTTTTTTTTTTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3558961	C C	CCTATCTA others(21): Show CCTATCTACCTATCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	364	0.0028	28	c.481 others(45): Show c.481+5254_481+5255insCCTATCTATCTATCTATCTATCTATCTA	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRODH2_chr19_35794988_35817845	35811457	A A	AAGGGAGG others(21): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19240.hp2 NA20300.hp1 HG02647.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0011 a0001c0010 a0002c0011	a0001c0010t0001 a0002c0011t0001 a0001c0010t0001 a0002c0011t0001	a0001c0010t0001g0064 a0001c0010t0001g0066 a0002c0011t0001g0065 a0001c0010t0001g0064 a0001c0010t0001g0066 a0002c0011t0001g0065	3	428	0.0070	28	c.597 others(43): Show c.597+504_597+505insCCCTCCCTCCCTCCCTCCCTCCCTCCCT	PRODH2	ENSG00000250799.11	transcript	ENST00000653904.2	protein_coding	4/9			chr19	TogoVar
PROM1_chr4_15963228_16089023	16004829	T T	TTCTTTCT others(21): Show TTCTTTCTTTCTTTCTTTCTTTTTCTTCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18982.hp2 NA19080.hp1 HG00423.hp1 NA18982.hp2 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0202 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0202	3	374	0.0080	28	c.145 others(47): Show c.1454+1708_1454+1709insGGAAGAAAAAGAAAGAAAGAAAGAAA GA	PROM1	ENSG00000007062.12	transcript	ENST00000447510.7	protein_coding	13/27			chr4	TogoVar

Search by Variant

Search

Search Results