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
PPP1R13B_chr14_103728195_103852575	103776186	G G	GAGGGAGG others(37): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0192 a0004c0007t0001g0192	1	186	0.0054	44	c.354 others(61): Show c.354+2558_354+2559insTCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCT	PPP1R13B	ENSG00000088808.18	transcript	ENST00000202556.14	protein_coding	4/16			chr14	TogoVar
PPP1R37_chr19_45088179_45152285	45089726	C C	CTGGCTGT others(37): Show CTGGCTGTCTAATTCAGTTATAGTGATTCTCTAATGGGTCGCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	340	0.0029	44	c.-36 others(55): Show c.-3600_-3599insTGGCTGTCTAATTCAGTTATAGTGATTCTCTAAT GGGTCGCTAT	PPP1R37	ENSG00000104866.11	transcript	ENST00000221462.9	protein_coding		3452		chr19	TogoVar
PPP1R37_chr19_45088179_45152285	45095386	T T	TTAAGCCT others(37): Show TTAAGCCTTCCAAAGTGCTGGGATTACCGGCATGAGCCACCGTGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03516.hp2 HG03540.hp1 HG02451.hp1 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0214 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0001g0214 a0001c0001t0002g0213 a0001c0001t0002g0215	3	340	0.0088	44	c.202 others(61): Show c.202+1860_202+1903dupTAAGCCTTCCAAAGTGCTGGGATTACCG GCATGAGCCACCGTGC	PPP1R37	ENSG00000104866.11	transcript	ENST00000221462.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP1R3F_chrX_49264793_49293090	49291316	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG03669.hp1 HG03927.hp1 others(2): Show HG00597.hp2 HG03669.hp1 HG03927.hp1 NA19002.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0010 a0001c0001t0001g0083 a0001c0001t0001g0084 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0008g0081	5	181	0.0276	44	c.42 others(55): Show c.4226_*4227insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTGTCTG	PPP1R3F	ENSG00000049769.14	transcript	ENST00000055335.11	protein_coding		3227		chrX	TogoVar
PPP1R8_chr1_27825782_27856676	27855774	T T	TTCAAGCA others(37): Show TTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTACCTGGGATTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0093 a0001c0001t0008g0093	1	338	0.0030	44	c.53 others(55): Show c.5328_*5329insTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAC CTGGGATTAC	PPP1R8	ENSG00000117751.18	transcript	ENST00000311772.10	protein_coding		4099		chr1	TogoVar
PPP1R9A_chr7_94902594_95301400	95070593	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0008 a0007c0009t0008	a0007c0009t0008g0011 a0007c0009t0008g0011	1	215	0.0047	44	c.139 others(65): Show c.1396-40648_1396-40647insTATATATATATATATATGTATATA TATATATATATATATATATA	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP2R3A_chr3_135960728_136152894	135991440	G G	GTATATAA others(37): Show GTATATAATAAAGAATTTTTTAAAATTAGAAAATGGTAAAAGTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02145.hp1 HG02258.hp2 others(8): Show HG01496.hp2 HG02145.hp1 HG02258.hp2 HG02486.hp2 HG02809.hp2 HG02896.hp1 HG02965.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0007 a0002c0002t0010 others(2): Show a0002c0002t0005 a0002c0002t0007 a0002c0002t0010 a0002c0002t0014 a0002c0002t0015	a0002c0002t0005g0051 a0002c0002t0005g0052 a0002c0002t0005g0054 others(8): Show a0002c0002t0005g0051 a0002c0002t0005g0052 a0002c0002t0005g0054 a0002c0002t0005g0103 a0002c0002t0007g0053 a0002c0002t0007g0101 a0002c0002t0007g0102 a0002c0002t0010g0100 a0002c0002t0010g0104 a0002c0002t0014g0055 a0002c0002t0015g0105	11	236	0.0466	44	c.-44 others(63): Show c.-440-9618_-440-9575dupTATATAATAAAGAATTTTTTAAAATT AGAAAATGGTAAAAGTTT	PPP2R3A	ENSG00000073711.11	transcript	ENST00000264977.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP2R3B_chrX_328933_391907	330898	T T	TCCCCCCC others(37): Show TCCCCCCCGACGGGGGCCTCGTCCCCCCCCGACGGGGCCTCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0003 a0006c0005t0003	a0006c0005t0003g0012 a0006c0005t0003g0012	1	10	0.1000	44	c.34 others(55): Show c.3468_*3469insGGACGAGGCCCCGTCGGGGGGGGACGAGGCCCCC GTCGGGGGGG	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding		3034		chrX	TogoVar
PPP2R5C_chr14_101756709_101932977	101760937	G G	GGAGGGGC others(37): Show GGAGGGGCTGGCCGAGGGAAGAGGAGGAGAGGGGACGGGCTGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02886.hp2 HG03927.hp2 others(1): Show HG02486.hp1 HG02886.hp2 HG03927.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0020 a0001c0001t0003 a0001c0003t0020	a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 others(1): Show a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0003t0020g0008	4	136	0.0294	44	c.-95 others(53): Show c.-957_-956insGAGGGGCTGGCCGAGGGAAGAGGAGGAGAGGGGACG GGCTGGTC	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding		771		chr14	TogoVar
PPP2R5E_chr14_63366364_63548377	63430389	A A	ACATGCAT others(37): Show ACATGCATACATACATACATACATGCATACATACATACATACATG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0230	1	215	0.0047	44	c.355 others(61): Show c.355-8296_355-8295insCATGTATGTATGTATGTATGCATGTATG TATGTATGTATGCATG	PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	3/13			chr14	TogoVar
PPP3CA_chr4_101018418_101352526	101106453	G G	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAGAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	141	0.0071	44	c.384 others(61): Show c.384+2500_384+2501insTTTCTCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP4R3A_chr14_91452508_91515310	91468667	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0346 a0001c0001t0001g0346	1	21	0.0476	44	c.166 others(63): Show c.1660+2169_1660+2170insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	10/14			chr14	TogoVar
PPP4R4_chr14_94169322_94284734	94174272	T T	TCGCCCCG others(37): Show TCGCCCCGCCTCCTCGCCGGGCCCGCCCCGCCTCCTCGCCGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG02922.hp1 HG06807.hp1 others(2): Show HG00323.hp2 HG02922.hp1 HG06807.hp1 NA19043.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0030 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0080 a0001c0001t0001g0114	5	300	0.0167	44	c.-19 others(53): Show c.-194_-193insCGCCCCGCCTCCTCGCCGGGCCCGCCCCGCCTCCTC GCCGGGCC	PPP4R4	ENSG00000119698.12	transcript	ENST00000304338.8	protein_coding		49		chr14	TogoVar
PPP5C_chr19_46342087_46395975	46389388	C C	CACACACA others(37): Show CACACACAGTTGATCCCTTGCCTGGGGAAGAGTAAGACTCCATCT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0341 a0001c0001t0003g0341	1	391	0.0026	44	c.135 others(61): Show c.1356-656_1356-655insGTTGATCCCTTGCCTGGGGAAGAGTAAG ACTCCATCTACACACA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP5C_chr19_46342087_46395975	46389392	C C	CACACACA others(37): Show CACACACACACACACACACAGTGTTGAGTAAGACTCCATCTCAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0353	1	389	0.0026	44	c.135 others(61): Show c.1356-640_1356-639insGTGTTGAGTAAGACTCCATCTCAAAACA CACACACACACACACA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPT2_chr6_32149141_32168675	32167060	C C	CTCCGCAG others(37): Show CTCCGCAGCTCTCCGCCTTCCGCCGACCCCCCGTGTCTCGTCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	422	0.0024	44	c.41 others(55): Show c.4110_*4111insTCCGCAGCTCTCCGCCTTCCGCCGACCCCCCGTG TCTCGTCCCG	PPT2	ENSG00000221988.13	transcript	ENST00000324816.11	protein_coding		3386		chr6	TogoVar
PRAMEF10_chr1_12887896_12903270	12900231	T T	TCCCCGCC others(37): Show TCCCCGCCGGTTTAGGGAGAGACATGGGTCATATGGATCCCATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0010 a0002c0008t0002g0010	1	376	0.0027	44	c.-20 others(55): Show c.-2042_-2041insCAATGGGATCCATATGACCCATGTCTCTCCCTAA ACCGGCGGGG	PRAMEF10	ENSG00000187545.5	transcript	ENST00000235347.4	protein_coding		1962		chr1	TogoVar
PRDM16_chr1_3064203_3443621	3181448	A A	ACAAGCAG others(37): Show ACAAGCAGTCTTACACACGGTCTTACACACGCGGTCTTACACAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0062 a0001c0001t0087g0062	1	187	0.0053	44	c.38- others(59): Show c.38-4676_38-4675insAAGCAGTCTTACACACGGTCTTACACACGC GGTCTTACACAAGC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3181565	C C	CAGTCTTA others(37): Show CAGTCTTACACACGGTCTTACACGGTCTTACACAGTCTTACACAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	132	0.0076	44	c.38- others(59): Show c.38-4560_38-4559insAGTCTTACACACGGTCTTACACGGTCTTAC ACAGTCTTACACAT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16			chr1	TogoVar
PRELID2_chr5_145751344_145840342	145817421	T T	TTATATAT others(37): Show TTATATATATATATTTATATATATATATATATATATATATTTATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0129 a0001c0001t0037g0129	1	97	0.0103	44	c.368 others(59): Show c.368+472_368+473insTATAAATATATATATATATATATATATATA AATATATATATATA	PRELID2	ENSG00000186314.12	transcript	ENST00000683046.1	protein_coding	4/6			chr5	TogoVar
PRKAG2_chr7_151551127_151882115	151782339	A A	AGGAAGGA others(37): Show AGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	167	0.0060	44	c.187 others(59): Show c.187-909_187-908insCTCCCTCCCTCCCTCCCTCCCTCCCTCCTT CCTTCCTTCCTTCC	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	2/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151855319	T T	TACACACA others(37): Show TACACACACGCCACCCTCCACACACCACCCTCCACACACACTTTA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	178	0.0056	44	c.114 others(63): Show c.114+21187_114+21188insTAAAGTGTGTGTGGAGGGTGGTGTGT GGAGGGTGGCGTGTGTGT	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCB_chr16_23830983_24225611	23875638	C C	CATACATG others(37): Show CATACATGTATGTATATCACATATATATGTATGTATATCACACAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp2 HG01167.hp1 others(5): Show HG01123.hp1 HG01123.hp2 HG01167.hp1 HG02109.hp2 HG02486.hp1 HG03017.hp1 HG03486.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0009	a0001c0001t0046 a0001c0002t0023 a0001c0004t0002 others(5): Show a0001c0001t0046 a0001c0002t0023 a0001c0004t0002 a0001c0004t0007 a0001c0004t0009 a0001c0005t0003 a0001c0009t0038 a0001c0009t0067	a0001c0001t0046g0029 a0001c0002t0023g0077 a0001c0004t0002g0009 others(5): Show a0001c0001t0046g0029 a0001c0002t0023g0077 a0001c0004t0002g0009 a0001c0004t0007g0041 a0001c0004t0009g0011 a0001c0005t0003g0042 a0001c0009t0038g0056 a0001c0009t0067g0012	8	132	0.0606	44	c.205 others(63): Show c.205+38235_205+38236insCATGTATGTATATCACATATATATGT ATGTATATCACACATATA	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23882017	T T	TCTCTTTC others(37): Show TCTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0107 a0001c0014t0001g0107	1	116	0.0086	44	c.205 others(63): Show c.205+44613_205+44614insCTTTCTTTCTTTCTTTCTCTTTCTTT CTTTCTTTCTTCCTTCCT	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(37): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0051 a0001c0001t0069g0051	1	26	0.0385	44	c.205 others(63): Show c.205+65329_205+65330insCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24021072	C C	CTCCTTTC others(37): Show CTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 NA18991.hp1 HG01168.hp2 HG01169.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0007 a0001c0001t0004 a0001c0003t0007	a0001c0001t0004g0086 a0001c0003t0007g0062 a0001c0003t0007g0063 a0001c0001t0004g0086 a0001c0003t0007g0062 a0001c0003t0007g0063	3	60	0.0500	44	c.289 others(63): Show c.289-11063_289-11062insCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCH_chr14_61316579_61555976	61428112	C C	CACATATA others(37): Show CACATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0195 a0001c0003t0014g0195	1	84	0.0119	44	c.428 others(63): Show c.428-14998_428-14997insCATATATATATATATATATATATATA TATATATATATATATATA	PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCZ_chr1_2045411_2190395	2121785	G G	GTTATTTA others(37): Show GTTATTTAGGGTCATGGTGGTGGTTAGGGTCGTGGTGGTAGTTAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02698.hp1 NA18956.hp2 others(2): Show HG02293.hp1 HG02698.hp1 NA18956.hp2 NA18961.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0081 others(2): Show a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085	5	269	0.0186	44	c.335 others(63): Show c.335-13474_335-13473insTTTAGGGTCATGGTGGTGGTTAGGGT CGTGGTGGTAGTTATTTA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKG1_chr10_51069487_52303350	52114557	A A	ACTATATA others(37): Show ACTATATATATATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	61	0.0164	44	c.936 others(63): Show c.936-19283_936-19282insCTATATATATATACATATATATATAT ATATATATATATATATAT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	7/17			chr10	TogoVar
PRKN_chr6_161342417_162732766	161874159	T T	TATATTAT others(37): Show TATATTATATGTAAAATATAATATATAATATATATTATATGTAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0011 a0005c0011t0011	a0005c0011t0011g0009 a0005c0011t0011g0009	1	28	0.0357	44	c.735 others(63): Show c.735-88252_735-88251insTTTACATATAATATATATTATATATT ATATTTTACATATAATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161874264	A A	AAATATAA others(37): Show AAATATAATATATATTATATATAATATATAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0019 a0002c0002t0003g0019	1	20	0.0500	44	c.735 others(63): Show c.735-88357_735-88356insATATATATTATATATTATATATTATA TATAATATATATTATATT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162011400	A A	AATATATA others(37): Show AATATATAATATATTATATTTTATAATATATATATTATATATTAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	12	0.0833	44	c.619 others(63): Show c.619-37984_619-37983insATAATATATAATATATATATTATAAA ATATAATATATTATATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRKX_chrX_3599340_3718649	3639324	G G	GATGGATG others(37): Show GATGGATGATTGAATGAAGGGGTGGGGGTGGATGGATGAAGGGGT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18982.hp1 NA18984.hp1 others(1): Show HG02132.hp1 NA18982.hp1 NA18984.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0019 a0002c0003t0121 a0001c0001t0002 a0001c0001t0019 a0002c0003t0121	a0001c0001t0002g0025 a0001c0001t0002g0036 a0001c0001t0019g0131 others(1): Show a0001c0001t0002g0025 a0001c0001t0002g0036 a0001c0001t0019g0131 a0002c0003t0121g0203	4	216	0.0185	44	c.719 others(61): Show c.719+2527_719+2528insACCCCTTCATCCATCCACCCCCACCCCT TCATTCAATCATCCAT	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	119	0.0084	44	c.75+ others(59): Show c.75+4515_75+4516insATATATATATATATATATATATATATATAT ATATATATTTTTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PROSER2_chr10_11818356_11877277	11852777	T T	TTCCCAAA others(37): Show TTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCAGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG01081.hp1 others(37): Show HG00323.hp1 HG00597.hp1 HG01081.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01515.hp2 HG01884.hp2 HG02148.hp2 HG02280.hp1 HG02818.hp2 HG03486.hp1 HG03516.hp2 HG04228.hp1 NA18747.hp2 NA18940.hp1 NA18946.hp2 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA19002.hp2 NA19010.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19065.hp2 NA19066.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0020 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0066 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0229 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0333 a0001c0001t0003g0013 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0015g0019 a0001c0001t0015g0032 a0001c0021t0001g0037	40	346	0.1156	44	c.138 others(59): Show c.138+602_138+645dupAGGCCTCCCAAAGTGCTGGGATTATAGGCG TGAGCCACCGCGCC	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PROZ_chr13_113153648_113177386	113162560	A A	ACATCCTC others(37): Show ACATCCTCCTCCTGCTCAGGTCCCCCGTCCCTGCCACCGCCCCAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	352	0.0028	44	c.260 others(59): Show c.260-425_260-424insCGTCCCTGCCACCGCCCCACCATCCTCCTC CTGCTCAGGTCCCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(37): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG03471.hp1 HG03540.hp2 others(2): Show HG01978.hp2 HG03471.hp1 HG03540.hp2 HG04115.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0023 a0001c0001t0001g0047 a0001c0001t0001g0081 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0047 a0001c0001t0001g0081 a0001c0001t0001g0102 a0001c0002t0001g0006	5	77	0.0649	44	c.23 others(55): Show c.2397_*2398insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(37): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02129.hp1 HG02148.hp2 others(5): Show HG00621.hp2 HG02129.hp1 HG02148.hp2 HG03471.hp2 HG03490.hp1 NA18980.hp2 NA18986.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0016 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0069 a0001c0003t0001g0015	8	80	0.1000	44	c.23 others(55): Show c.2397_*2398insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCTCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PRPF38B_chr1_108687310_108707928	108689608	T T	TAACATTA others(37): Show TAACATTATATATATATATATATATATATATATATATATAATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 NA18522.hp2 HG02055.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0023 a0001c0001t0013g0024 a0001c0001t0013g0023 a0001c0001t0013g0024	2	6	0.3333	44	c.-29 others(55): Show c.-2984_-2983insAACATTATATATATATATATATATATATATATAT ATATAATGTG	PRPF38B	ENSG00000134186.12	transcript	ENST00000370025.9	protein_coding		2701		chr1	TogoVar
PRPF6_chr20_63976132_64038100	64017443	G G	GTGAGCCG others(37): Show GTGAGCCGCCGCGCCCGGCCTCCCAGAGTGCTGGGATCACAGGCA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	211	0.0047	44	c.164 others(61): Show c.1647+607_1647+608insGCGCCCGGCCTCCCAGAGTGCTGGGATC ACAGGCATGAGCCGCC	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRPF6_chr20_63976132_64038100	64017513	A A	AGTGCTGG others(37): Show AGTGCTGGGATCACAGGCGTGAGCCGCCGCGCCCGGCCTCCCACG	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	292	0.0034	44	c.164 others(61): Show c.1647+692_1647+735dupCGCCGCGCCCGGCCTCCCACGGTGCTGG GATCACAGGCGTGAGC	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(37): Show AAAAAAAAAATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0113 a0002c0002t0008g0113	1	155	0.0065	44	c.79 others(55): Show c.7922_*7923insATATATATATATATATATATATATATATATATAT ATTTTTTTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3742		chr22	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0065 a0010c0016t0001g0065	1	92	0.0109	44	c.-51 others(61): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131448543	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	67	0.0149	44	c.112 others(61): Show c.1120+766_1120+767insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2C_chr1_171480530_171598511	171569575	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02109.hp1 HG03654.hp2 others(3): Show HG01952.hp1 HG02109.hp1 HG03654.hp2 NA18950.hp2 NA18956.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0032 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128	6	70	0.0857	44	c.665 others(63): Show c.6651+1254_6651+1255insATATATATATATATATATATATATAT ATATATATATATATATAT	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRSS55_chr8_10520532_10543819	10543481	T T	TTTCTTTC others(37): Show TTTCTTTCTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0031 a0005c0005t0001g0031	1	452	0.0022	44	c.46 others(55): Show c.4688_*4689insTTCTTTCTTTCTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTC	PRSS55	ENSG00000184647.11	transcript	ENST00000328655.8	protein_coding		4663		chr8	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	156	0.0064	44	c.870 others(61): Show c.870-1095_870-1094insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTT	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSD2_chr5_139790808_139849466	139830565	C C	CCTTCCTT others(37): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	229	0.0044	44	c.127 others(63): Show c.1270-3134_1270-3133insCCTTCCTTCCTTCCTTCCTTCCTTCC TTTCTTTCTTTCTTTCTT	PSD2	ENSG00000146005.4	transcript	ENST00000274710.4	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PSD3_chr8_18522303_19018703	18752558	A A	ATATATAC others(37): Show ATATATACTACATATATTATATATATAATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0051 a0003c0004t0051	a0003c0004t0051g0024 a0003c0004t0051g0024	1	205	0.0049	44	c.217 others(65): Show c.2172+12890_2172+12891insATATATAATATATATAATTATATA TATAATATATGTAGTATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18752558	A A	ATATATAT others(37): Show ATATATATTACATATATTATATATATAATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG01074.hp2 others(18): Show HG00140.hp1 HG00609.hp2 HG01074.hp2 HG01256.hp1 HG01258.hp2 HG01496.hp2 HG01934.hp1 HG02071.hp1 HG02602.hp2 HG02735.hp1 HG03239.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18981.hp1 NA18989.hp1 NA19007.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0013 others(3): Show a0001c0001 a0001c0002 a0001c0013 a0002c0003 a0003c0004 a0004c0009	a0001c0001t0001 a0001c0001t0007 a0001c0001t0029 others(15): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0029 a0001c0001t0063 a0001c0001t0078 a0001c0002t0001 a0001c0013t0001 a0002c0003t0007 a0002c0003t0011 a0002c0003t0013 a0002c0003t0034 a0002c0003t0040 a0002c0003t0084 a0002c0003t0085 a0003c0004t0001 a0003c0004t0008 a0003c0004t0080 a0004c0009t0076	a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0067 others(18): Show a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0067 a0001c0001t0007g0104 a0001c0001t0029g0045 a0001c0001t0029g0098 a0001c0001t0063g0092 a0001c0001t0078g0218 a0001c0002t0001g0080 a0001c0013t0001g0013 a0002c0003t0007g0111 a0002c0003t0011g0099 a0002c0003t0013g0141 a0002c0003t0034g0042 a0002c0003t0040g0058 a0002c0003t0084g0228 a0002c0003t0085g0227 a0003c0004t0001g0078 a0003c0004t0008g0109 a0003c0004t0080g0220 a0004c0009t0076g0155	21	225	0.0933	44	c.217 others(65): Show c.2172+12890_2172+12891insATATATAATATATATAATTATATA TATAATATATGTAATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar

Search by Variant

Search

Search Results