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
PP2D1_chr3_19980346_20017264	20012958	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	396	0.0025	31	c.-88 others(40): Show c.-887_-886insCTGTATATATATATATATATATATATATATA		PP2D1	ENSG00000183977.14	transcript	ENST00000389050.5	protein_coding					695		chr3	TogoVar
PPARD_chr6_35337558_35433178	35377871	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0095 a0001c0001t0016g0095	1	238	0.0042	31	c.-10 others(52): Show c.-102+30732_-102+30733insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
PPARG_chr3_12284070_12439344	12406532	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA18973.hp1 NA19002.hp2 others(1): Show HG00741.hp2 NA18973.hp1 NA19002.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0119 a0001c0001t0001g0265 a0001c0002t0001g0124 others(1): Show a0001c0001t0001g0119 a0001c0001t0001g0265 a0001c0002t0001g0124 a0001c0002t0001g0126	4	294	0.0136	31	c.729 others(46): Show c.729+476_729+477insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		PPARG	ENSG00000132170.24	transcript	ENST00000651735.1	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
PPFIA1_chr11_70265690_70389396	70279905	A A	ATTGTGTG others(24): Show ATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0168 a0001c0005t0003g0168	1	282	0.0036	31	c.264 others(48): Show c.264+7470_264+7471insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT		PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA2_chr12_81252975_81764350	81584876	A A	AATTATAT others(24): Show AATTATATATTAATTATATTTATATATAATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	168	0.0060	31	c.303 others(50): Show c.303+91884_303+91914dupATATTATATATAAATATAATTAATAT ATAAT		PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32						chr12	TogoVar
PPFIA3_chr19_49114544_49156026	49137628	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp1 HG01515.hp1 HG00733.hp1 HG00738.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0145 a0001c0001t0002g0153 a0001c0001t0002g0139 a0001c0001t0002g0145 a0001c0001t0002g0153	3	362	0.0083	31	c.185 others(48): Show c.1854-547_1854-546insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		PPFIA3	ENSG00000177380.14	transcript	ENST00000334186.9	protein_coding	15/29					INFO_REALIGN_3_PRIME	chr19	TogoVar
PPIC_chr5_123018250_123041725	123037315	C C	CTTCTAAG others(24): Show CTTCTAAGAACTTATTTGGAGGATTGGCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0074 a0001c0001t0007g0074	1	382	0.0026	31	c.-69 others(40): Show c.-691_-690insAGAAGCCAATCCTCCAAATAAGTTCTTAGAA		PPIC	ENSG00000168938.6	transcript	ENST00000306442.5	protein_coding					591		chr5	TogoVar
PPL_chr16_4877507_4942148	4920371	G G	GAAAGAAA others(24): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0333 a0007c0009t0002g0333	1	372	0.0027	31	c.63- others(46): Show c.63-9423_63-9422insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT T		PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	1/21						chr16	TogoVar
PPM1B_chr2_44163875_44236472	44205354	G G	GGTGTGTG others(24): Show GGTGTGTGTGTCGGGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	358	0.0028	31	c.846 others(48): Show c.846+3319_846+3320insCGGGTGTGTGTGTGTGTGTGTGTGTGTG TGT		PPM1B	ENSG00000138032.21	transcript	ENST00000282412.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
PPM1B_chr2_44163875_44236472	44205354	G G	GGTGTGTG others(24): Show GGTGTGTGTGTCGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	358	0.0028	31	c.846 others(48): Show c.846+3319_846+3320insCGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT		PPM1B	ENSG00000138032.21	transcript	ENST00000282412.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
PPM1H_chr12_62638994_62940150	62673715	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	252	0.0040	31	c.124 others(50): Show c.1246-6387_1246-6386insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA		PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	8/9						chr12	TogoVar
PPM1L_chr3_160751231_161083902	161058118	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0001	1	206	0.0049	31	c.575 others(48): Show c.575-7261_575-7260insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP1R12C_chr19_55085918_55122637	55096901	G G	GCCCCTTC others(24): Show GCCCCTTCCCCGCAGTTCACCACCGTCTTCAC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	390	0.0026	31	c.952 others(46): Show c.952-567_952-566insGTGAAGACGGTGGTGAACTGCGGGGAAGGG G		PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	6/21						chr19	TogoVar
PPP1R16B_chr20_38800697_38928024	38801531	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0018 a0001c0002t0003g0018	1	244	0.0041	31	c.-43 others(42): Show c.-4363_-4362insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding					4165		chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38855982	A A	AGAGAAGG others(24): Show AGAGAAGGAGGAGGAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03834.hp2 HG02129.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0120 a0001c0001t0001g0099 a0001c0001t0001g0120	2	244	0.0082	31	c.250 others(50): Show c.250+19807_250+19808insGAGAAGGAGGAGGAGGAGGAGGAGGA GGAGG		PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	2/10						chr20	TogoVar
PPP1R9A_chr7_94902594_95301400	95181640	A A	AATATATA others(24): Show AATATATATATTCCGTCACATATATATAGAAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02071.hp2 homoSapiens_chm13v2.hp1 HG01167.hp2 HG02071.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0004 a0002c0001t0003 a0002c0001t0004	a0002c0001t0003g0026 a0002c0001t0003g0218 a0002c0001t0004g0092 a0002c0001t0003g0026 a0002c0001t0003g0218 a0002c0001t0004g0092	3	290	0.0103	31	c.175 others(52): Show c.1755-16571_1755-16541dupGTCACATATATATAGAATATATAT ATATTCC		PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP2R2D_chr10_131896008_131964834	131952598	C C	CTAGTGAC others(24): Show CTAGTGACTTGCGGGTGTGCGGGGGGGTTCAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02723.hp1 HG02886.hp2 others(7): Show HG00735.hp1 HG02723.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03130.hp2 HG03540.hp2 NA18942.hp1 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0080 a0002c0002t0001 a0001c0001t0009 a0001c0001t0080 a0002c0002t0001	a0001c0001t0009g0152 a0001c0001t0009g0153 a0001c0001t0009g0154 others(7): Show a0001c0001t0009g0152 a0001c0001t0009g0153 a0001c0001t0009g0154 a0001c0001t0009g0155 a0001c0001t0009g0157 a0001c0001t0009g0158 a0001c0001t0009g0177 a0001c0001t0080g0156 a0002c0002t0001g0214 a0002c0002t0001g0249	10	394	0.0254	31	c.108 others(50): Show c.1083-3085_1083-3084insAGTGACTTGCGGGTGTGCGGGGGGGT TCATT		PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131952623	G G	GGGGGGGT others(24): Show GGGGGGGTTCACTTAGTGACTTTCGGGTGTGT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0228 a0002c0002t0001g0228	1	394	0.0025	31	c.108 others(50): Show c.1083-3056_1083-3055insGTTCACTTAGTGACTTTCGGGTGTGT GGGGG		PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R5C_chr14_101756709_101932977	101924445	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02897.hp1 others(4): Show HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03516.hp1 HG03579.hp1 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0003t0018 a0001c0001t0002 a0001c0003t0002 a0001c0003t0018	a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0080 others(4): Show a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0080 a0001c0001t0002g0114 a0001c0003t0002g0112 a0001c0003t0002g0127 a0001c0003t0018g0089	7	138	0.0507	31	c.160 others(48): Show c.1609-684_1609-683insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP3CA_chr4_101018418_101352526	101106450	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0030	1	192	0.0052	31	c.384 others(48): Show c.384+2503_384+2504insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT		PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13						chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101106466	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0034 a0001c0001t0038g0034	1	192	0.0052	31	c.384 others(48): Show c.384+2487_384+2488insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT		PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13						chr4	TogoVar
PPP3CC_chr8_22436078_22546125	22489689	G G	GTATATAT others(24): Show GTATATATTATATATTATATATAAGTATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03491.hp1 HG03540.hp2 others(3): Show HG02027.hp1 HG03491.hp1 HG03540.hp2 NA18957.hp1 NA18980.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0118 a0001c0001t0001g0153 a0001c0001t0002g0210 others(3): Show a0001c0001t0001g0118 a0001c0001t0001g0153 a0001c0001t0002g0210 a0001c0001t0002g0270 a0001c0001t0005g0093 a0001c0001t0007g0293	6	326	0.0184	31	c.373 others(48): Show c.373-8297_373-8267dupTATATATAAGTATATATTATATATTATA TAT		PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP3R1_chr2_68173857_68257532	68252588	C C	CGGAGGCG others(24): Show CGGAGGCGGGGGGCGCGCGCGGGCCGGCGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0296 a0001c0002t0002g0296	1	398	0.0025	31	c.-46 others(40): Show c.-462_-461insCGCCGCCGGCCCGCGCGCGCCCCCCGCCTCC		PPP3R1	ENSG00000221823.11	transcript	ENST00000234310.8	protein_coding					57		chr2	TogoVar
PPP4R1_chr18_9541794_9619559	9605566	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	388	0.0026	31	c.52+ others(46): Show c.52+8659_52+8660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		PPP4R1	ENSG00000154845.16	transcript	ENST00000400556.8	protein_coding	2/19						chr18	TogoVar
PPP4R3A_chr14_91452508_91515310	91468667	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	370	0.0027	31	c.166 others(50): Show c.1660+2169_1660+2170insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	10/14						chr14	TogoVar
PPP4R3A_chr14_91452508_91515310	91507340	T T	TATTATAT others(24): Show TATTATATATACTATATAGTATATATACTATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG00735.hp1 others(55): Show HG00597.hp1 HG00621.hp2 HG00735.hp1 HG01433.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02630.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03453.hp1 HG03486.hp1 HG03491.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18953.hp2 NA18963.hp2 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA18981.hp2 NA18985.hp2 NA18991.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp2 NA19078.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0010t0001 a0001c0001t0001 a0001c0001t0003 a0001c0010t0001	a0001c0001t0001g0005 a0001c0001t0001g0162 a0001c0001t0001g0234 others(54): Show a0001c0001t0001g0005 a0001c0001t0001g0162 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0003g0248 a0001c0010t0001g0358	58	370	0.1568	31	c.142 others(48): Show c.142+2135_142+2165dupTATAGTATATATACTATATAGTATATAT AAT		PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	1/14						chr14	TogoVar
PPP6R2_chr22_50338327_50450090	50375832	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02683.hp1 HG02738.hp2 HG00438.hp1 HG02683.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0029g0238 a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0029g0238	3	340	0.0088	31	c.-17 others(48): Show c.-17+3708_-17+3709insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R3_chr11_68455752_68620334	68478647	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	252	0.0040	31	c.-15 others(52): Show c.-158+17845_-158+17846insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
PPWD1_chr5_65558296_65592549	65573476	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02258.hp2 NA18980.hp2 HG02132.hp2 HG02258.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0001g0088 a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0001g0088	3	384	0.0078	31	c.969 others(48): Show c.969+1190_969+1191insATATATATATATATATATATATATATAT ATA		PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding	5/10						chr5	TogoVar
PRAM1_chr19_8485056_8507640	8499611	G G	GACCTCAG others(24): Show GACCTCAGGCGGCGGGGGCTTCTTGGGGAGGT	frameshift_variant frameshift_variant	HIGH	HG01109.hp1 HG02559.hp2 HG02717.hp1 others(1): Show HG01109.hp1 HG02559.hp2 HG02717.hp1 HG03225.hp2	a0014 a0014	a0014c0024 a0014c0025 a0014c0024 a0014c0025	a0014c0024t0002 a0014c0025t0002 a0014c0024t0002 a0014c0025t0002	a0014c0024t0002g0259 a0014c0024t0002g0260 a0014c0025t0002g0055 a0014c0024t0002g0259 a0014c0024t0002g0260 a0014c0025t0002g0055	4	422	0.0095	31	c.196 others(38): Show c.196_197insACCTCCCCAAGAAGCCCCCGCCGCCTGAGGT	p.Ala others(4): Show p.Ala66fs	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	245/2195	196/2013	66/670			chr19	TogoVar
PRAMEF14_chr1_13336892_13352134	13349213	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0000 a0000	a0000c0011 a0000c0011	a0000c0011t0001 a0000c0011t0001	a0000c0011t0001g0056 a0000c0011t0001g0056	1	256	0.0039	31	c.-21 others(42): Show c.-2183_-2182insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT		PRAMEF14	ENSG00000204481.8	transcript	ENST00000334600.7	protein_coding					2080		chr1	TogoVar
PRCC_chr1_156762535_156805815	156792053	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	350	0.0029	31	c.117 others(48): Show c.1179+289_1179+290insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM15_chr21_41793225_41884344	41835954	T T	TCCCCCAC others(24): Show TCCCCCACAGGCCTCGCCCACTCTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0271 a0001c0001t0010g0271	1	406	0.0025	31	c.127 others(48): Show c.1278+158_1278+159insGAGGGAGGAGAGTGGGCGAGGCCTGTGG GGG		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	10/23						chr21	TogoVar
PRDM16_chr1_3064203_3443621	3403037	A A	ACCCTCCT others(24): Show ACCCTCCTCTGAGTCTTCCTCCCCTTCCCGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02572.hp1 others(12): Show HG02055.hp1 HG02145.hp2 HG02572.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02965.hp1 HG02976.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA20300.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0007c0024	a0001c0001t0014 a0001c0004t0004 a0001c0004t0007 others(8): Show a0001c0001t0014 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0001c0004t0025 a0001c0004t0055 a0001c0004t0063 a0001c0004t0081 a0002c0003t0004 a0002c0003t0059 a0007c0024t0007	a0001c0001t0014g0069 a0001c0004t0004g0051 a0001c0004t0007g0063 others(12): Show a0001c0001t0014g0069 a0001c0004t0004g0051 a0001c0004t0007g0063 a0001c0004t0007g0071 a0001c0004t0010g0032 a0001c0004t0010g0034 a0001c0004t0010g0130 a0001c0004t0010g0174 a0001c0004t0025g0205 a0001c0004t0055g0004 a0001c0004t0063g0016 a0001c0004t0081g0031 a0002c0003t0004g0127 a0002c0003t0059g0037 a0007c0024t0007g0173	15	210	0.0714	31	c.884 others(44): Show c.884+64_884+94dupTCCCGTGCCCTCCTCTGAGTCTTCCTCCCCT		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	6/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDX4_chrX_23662493_23691397	23665838	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG02723.hp1 HG02970.hp1 others(1): Show HG01070.hp2 HG02723.hp1 HG02970.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0006 a0001c0001t0001g0130 a0001c0001t0001g0166 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0130 a0001c0001t0001g0166 a0001c0001t0003g0119	4	349	0.0115	31	c.-17 others(42): Show c.-1733_-1732insAAAAAAAAAAAAAAAAAAAAAAAAAAAACAG		PRDX4	ENSG00000123131.13	transcript	ENST00000379341.9	protein_coding					1654		chrX	TogoVar
PRIM2_chr6_57312630_57651850	57446418	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	300	0.0033	31	c.694 others(50): Show c.694-60954_694-60953insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
PRIMA1_chr14_93713298_93793485	93727763	C C	CCCCTTCA others(24): Show CCCCTTCACCTTGTCTTCCTGTCACAAAACCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19030.hp1 NA19043.hp2 HG02976.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0024 a0001c0005t0001 a0001c0006t0002 a0001c0001t0024 a0001c0005t0001 a0001c0006t0002	a0001c0001t0024g0370 a0001c0005t0001g0215 a0001c0006t0002g0213 a0001c0001t0024g0370 a0001c0005t0001g0215 a0001c0006t0002g0213	3	397	0.0076	31	c.360 others(48): Show c.360-6248_360-6218dupAGGTTTTGTGACAGGAAGACAAGGTGAA GGG		PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4						chr14	TogoVar
PRKCA_chr17_66297613_66815743	66562041	T T	TAATTATA others(24): Show TAATTATATATATAATTAAATATATATAATTA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02132.hp1 NA19091.hp2 HG00673.hp2 HG02132.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0025 a0001c0001t0088 a0001c0001t0007 a0001c0001t0025 a0001c0001t0088	a0001c0001t0007g0025 a0001c0001t0025g0142 a0001c0001t0088g0143 a0001c0001t0007g0025 a0001c0001t0025g0142 a0001c0001t0088g0143	3	178	0.0169	31	c.288 others(50): Show c.288+65841_288+65871dupATATATAATTAAATTATATATATAAT TAAAT		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCB_chr16_23830983_24225611	23902780	T T	TCCTTCCT others(24): Show TCCTTCCTTCCTTCCTTCTTCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0061 a0001c0002t0003g0061	1	148	0.0068	31	c.205 others(50): Show c.205+65377_205+65378insTCCTTCCTTCCTTCTTCCTCCCTCCC TCCCT		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24096666	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0080 a0001c0008t0080	a0001c0008t0080g0058 a0001c0008t0080g0058	1	148	0.0068	31	c.821 others(48): Show c.821+2370_821+2371insAAAAAAAAATATATATATATATATATAT ATA		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24182902	T T	TGTGTGTG others(24): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0082 a0001c0006t0082	a0001c0006t0082g0093 a0001c0006t0082g0093	1	148	0.0068	31	c.153 others(50): Show c.1533+1974_1533+1975insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTG		PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	13/16						chr16	TogoVar
PRKCE_chr2_45646675_46192990	45941065	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03041.hp1 NA19005.hp2 HG02976.hp1 HG03041.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0076 a0001c0001t0002g0049 a0001c0001t0006g0045 a0001c0001t0001g0076 a0001c0001t0002g0049 a0001c0001t0006g0045	3	168	0.0179	31	c.413 others(50): Show c.413-35342_413-35341insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA		PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCZ_chr1_2045411_2190395	2148176	T T	TGTCTGTT others(24): Show TGTCTGTTGTCCACTGACCTCTCCATCTTTCC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0132 a0001c0003t0001g0132	1	286	0.0035	31	c.635 others(46): Show c.635-672_635-642dupATCTTTCCGTCTGTTGTCCACTGACCTCTC C		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	7/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKD2_chr19_46669316_46722114	46680947	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0152 a0001c0001t0001g0102 a0001c0001t0001g0152	2	378	0.0053	31	c.207 others(48): Show c.2070+702_2070+703insTATATATATATATATATATATATATATA TAT		PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17						chr19	TogoVar
PRKG1_chr10_51069487_52303350	51374093	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	64	0.0156	31	c.479 others(50): Show c.479-93629_479-93628insAAATATATATATATATATATATATAT ATATA		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51570067	A A	ATATATAT others(24): Show ATATATATATATATATATATAATATATATATG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	64	0.0156	31	c.592 others(52): Show c.592+102232_592+102233insATATATATATATATATATAATATA TATATGT		PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKN_chr6_161342417_162732766	161350586	A A	AATATATT others(24): Show AATATATTTTTATATATTTATATTTAAAATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	32	0.0313	31	c.128 others(48): Show c.1286-406_1286-376dupATATTTTAAATATAAATATATAAAAATA TAT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	11/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162328130	G G	GCAGGCGG others(24): Show GCAGGCGGGTCACAAAGTCAAGAGATCAAGAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01884.hp1 HG02602.hp1 others(6): Show HG01361.hp1 HG01884.hp1 HG02602.hp1 HG02897.hp2 HG03209.hp1 HG03209.hp2 HG03704.hp2 NA18522.hp1 NA18522.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0005c0011 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0002c0002t0004 a0002c0002t0009 a0005c0011t0012 a0006c0010t0005	a0001c0001t0001g0030 a0001c0001t0002g0024 a0001c0003t0001g0025 others(6): Show a0001c0001t0001g0030 a0001c0001t0002g0024 a0001c0003t0001g0025 a0001c0003t0001g0032 a0001c0004t0001g0001 a0002c0002t0004g0019 a0002c0002t0009g0008 a0005c0011t0012g0009 a0006c0010t0005g0013	9	32	0.2813	31	c.172 others(50): Show c.172-65396_172-65366dupGTCTTGATCTCTTGACTTTGTGACCC GCCTG		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11						chr6	TogoVar
PRKRIP1_chr7_102391363_102431666	102431117	T T	TGTGTGTG others(24): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	382	0.0026	31	c.60 others(42): Show c.6006_*6007insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG		PRKRIP1	ENSG00000128563.13	transcript	ENST00000397912.3	protein_coding					4452		chr7	TogoVar
PRLH_chr2_237561574_237572175	237566132	A A	ACATACAC others(24): Show ACATACACACAAACCTACACACATACACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	404	0.0025	31	c.-44 others(40): Show c.-442_-441insCATACACACAAACCTACACACATACACACAT		PRLH	ENSG00000071677.1	transcript	ENST00000165524.1	protein_coding					441		chr2	TogoVar

Search by Variant

Search

Search Results (Total: 5228 hits)